#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
CPSF3L	54973	broad.mit.edu	37	1	1248252	1248252	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:1248252G>A	ENST00000435064.1	-	12	1291	c.1209C>T	c.(1207-1209)ggC>ggT	p.G403G	CPSF3L_ENST00000411962.1_Silent_p.G305G|CPSF3L_ENST00000545578.1_Silent_p.G374G|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000450926.2_Silent_p.G381G|CPSF3L_ENST00000419704.1_Silent_p.G302G|CPSF3L_ENST00000540437.1_Silent_p.G409G|CPSF3L_ENST00000421495.2_Silent_p.G145G	NM_001256460.1|NM_017871.5	NP_001243389.1|NP_060341.2	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	403					snRNA processing (GO:0016180)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		GCTCTGCCTGGCCCACCAGCT	0.632																																						uc001aee.1		NaN																	0					0						c.(1207-1209)GGC>GGT		cleavage and polyadenylation specific factor							46.0	44.0	45.0					1																	1248252		2201	4296	6497	SO:0001819	synonymous_variant	54973					Golgi apparatus|nucleus	hydrolase activity	g.chr1:1248252G>A	AL136813	CCDS21.1, CCDS57959.1, CCDS57960.1, CCDS57961.1, CCDS72678.1	1p36.33	2008-02-05			ENSG00000127054	ENSG00000127054			26052	protein-coding gene	gene with protein product	"""integrator complex subunit 11"""	611354				15684398, 16239144	Standard	NM_001256456		Approved	FLJ20542, RC-68, CPSF73L, INT11, INTS11	uc001aee.2	Q5TA45	OTTHUMG00000003330	ENST00000435064.1:c.1209C>T	1.37:g.1248252G>A						CPSF3L_uc009vjy.1_RNA|CPSF3L_uc001aef.1_Silent_p.G409G|CPSF3L_uc009vjz.1_Silent_p.G381G|CPSF3L_uc010nyj.1_Silent_p.G374G|CPSF3L_uc001aeg.1_Silent_p.G279G|CPSF3L_uc001aeh.1_Silent_p.G302G|CPSF3L_uc001aei.1_Silent_p.G305G|CPSF3L_uc001aej.1_Silent_p.G230G|CPSF3L_uc001aek.1_Silent_p.G145G	p.G403G	NM_017871	NP_060341	Q5TA45	INT11_HUMAN		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)	12	1267	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	403					A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9	Silent	SNP	ENST00000435064.1	37	c.1209C>T	CCDS21.1																																																																																				0.632	CPSF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009360.2		NM_017871		59	5	0	0	0	0.01441	0	59	5		
CEP104	9731	broad.mit.edu	37	1	3742336	3742336	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:3742336C>A	ENST00000378230.3	-	18	2674	c.2350G>T	c.(2350-2352)Gac>Tac	p.D784Y		NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	784						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						TTGCAGTGGTCACATCTTGTC	0.507																																						uc001aky.2		NaN																	0					0						c.(2350-2352)GAC>TAC		glycine-, glutamate-,							120.0	105.0	110.0					1																	3742336		2203	4300	6503	SO:0001583	missense	9731					centriole	binding	g.chr1:3742336C>A	AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"""glycine, glutamate, thienylcyclohexylpiperidine binding protein"""		"""KIAA0562"""	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.2350G>T	1.37:g.3742336C>A	ENSP00000367476:p.Asp784Tyr					KIAA0562_uc010nzm.1_RNA	p.D784Y	NM_014704	NP_055519	O60308	CE104_HUMAN		Epithelial(90;6.85e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.59e-22)|GBM - Glioblastoma multiforme(42;3.16e-16)|Colorectal(212;2.01e-05)|COAD - Colon adenocarcinoma(227;7.99e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000389)|Kidney(185;0.000513)|STAD - Stomach adenocarcinoma(132;0.00709)|KIRC - Kidney renal clear cell carcinoma(229;0.00714)|Lung(427;0.137)	18	2709	-	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_epithelial(116;3.96e-21)|all_lung(118;2.74e-08)|Lung NSC(185;6.4e-06)|Breast(487;0.00066)|Renal(390;0.00121)|Hepatocellular(190;0.00335)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.031)|Lung SC(97;0.0548)|Medulloblastoma(700;0.212)	784					Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Missense_Mutation	SNP	ENST00000378230.3	37	c.2350G>T	CCDS30571.1	.	.	.	.	.	.	.	.	.	.	C	6.014	0.370895	0.11409	.	.	ENSG00000116198	ENST00000378230	T	0.30981	1.51	4.84	2.9	0.33743	.	0.973701	0.08458	N	0.942797	T	0.28928	0.0718	N	0.24115	0.695	0.22424	N	0.999119	P	0.48016	0.904	P	0.47981	0.563	T	0.19679	-1.0298	10	0.54805	T	0.06	.	9.6871	0.40105	0.0:0.8239:0.0:0.1761	.	784	O60308	CE104_HUMAN	Y	784	ENSP00000367476:D784Y	ENSP00000367476:D784Y	D	-	1	0	CEP104	3732196	0.847000	0.29606	0.001000	0.08648	0.542000	0.35054	2.445000	0.44899	0.419000	0.25927	-0.150000	0.13652	GAC		0.507	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3		NM_014704		45	32	1	0	1.61004e-24	0.01441	2.02165e-24	45	32		
MFN2	9927	broad.mit.edu	37	1	12057360	12057360	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:12057360A>G	ENST00000235329.5	+	6	803	c.481A>G	c.(481-483)Aac>Gac	p.N161D	MFN2_ENST00000444836.1_Missense_Mutation_p.N161D	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	161	Dynamin-type G.				apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TCAGACTGTGAACCAGCTGGC	0.572																																						uc001atn.3		NaN																	0				ovary(1)	1						c.(481-483)AAC>GAC		mitofusin 2							72.0	67.0	69.0					1																	12057360		2203	4300	6503	SO:0001583	missense	9927				blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr1:12057360A>G	AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.481A>G	1.37:g.12057360A>G	ENSP00000235329:p.Asn161Asp					MFN2_uc009vni.2_Missense_Mutation_p.N161D	p.N161D	NM_014874	NP_055689	O95140	MFN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)	6	934	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	161			Cytoplasmic (Potential).		A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Missense_Mutation	SNP	ENST00000235329.5	37	c.481A>G	CCDS30587.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.899095	0.91962	.	.	ENSG00000116688	ENST00000444836;ENST00000235329	D;D	0.96619	-4.07;-4.07	5.3	5.3	0.74995	Dynamin, GTPase domain (1);	0.000000	0.85682	D	0.000000	D	0.94032	0.8088	N	0.12746	0.255	0.80722	D	1	D	0.56035	0.974	P	0.57846	0.828	D	0.92289	0.5840	10	0.15499	T	0.54	-34.9807	14.4621	0.67456	1.0:0.0:0.0:0.0	.	161	O95140	MFN2_HUMAN	D	161	ENSP00000416338:N161D;ENSP00000235329:N161D	ENSP00000235329:N161D	N	+	1	0	MFN2	11979947	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.962000	0.93254	2.005000	0.58758	0.523000	0.50628	AAC		0.572	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006859.2		NM_014874		50	4	0	0	0	0.01441	0	50	4		
TNFRSF1B	7133	broad.mit.edu	37	1	12251959	12251959	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:12251959G>T	ENST00000376259.3	+	4	525	c.436G>T	c.(436-438)Ggc>Tgc	p.G146C	TNFRSF1B_ENST00000536782.1_Missense_Mutation_p.G146C|TNFRSF1B_ENST00000492361.1_3'UTR|MIR4632_ENST00000584158.1_RNA	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	146					aging (GO:0007568)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lipopolysaccharide (GO:0071222)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of inflammatory response (GO:0050728)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|RNA destabilization (GO:0050779)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|varicosity (GO:0043196)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)	p.G146R(1)		central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)	GTGCCGCCCGGGCTTCGGCGT	0.682																																						uc001att.2		NaN																	1	Substitution - Missense(1)		lung(1)	liver(1)|central_nervous_system(1)|skin(1)	3						c.(436-438)GGC>TGC		tumor necrosis factor receptor 2 precursor	Etanercept(DB00005)|Infliximab(DB00065)						16.0	19.0	18.0					1																	12251959		2197	4286	6483	SO:0001583	missense	7133				apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity	g.chr1:12251959G>T	M32315	CCDS145.1	1p36.22	2008-02-05			ENSG00000028137	ENSG00000028137		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11917	protein-coding gene	gene with protein product		191191		TNFR2		2158863, 8702885	Standard	NM_001066		Approved	TNFBR, TNFR80, TNF-R75, TNF-R-II, p75, CD120b	uc001att.3	P20333	OTTHUMG00000001829	ENST00000376259.3:c.436G>T	1.37:g.12251959G>T	ENSP00000365435:p.Gly146Cys					TNFRSF1B_uc001atu.2_5'UTR|TNFRSF1B_uc009vnk.2_RNA	p.G146C	NM_001066	NP_001057	P20333	TNR1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	4	525	+	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	146			TNFR-Cys 3.|Extracellular (Potential).		B1AJZ3|Q16042|Q6YI29|Q9UIH1	Missense_Mutation	SNP	ENST00000376259.3	37	c.436G>T	CCDS145.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635561	0.67130	.	.	ENSG00000028137	ENST00000376259;ENST00000400863;ENST00000536782	D;D	0.99724	-6.54;-4.69	3.91	3.91	0.45181	TNFR/CD27/30/40/95 cysteine-rich region (2);	0.000000	0.85682	D	0.000000	D	0.99743	0.9898	H	0.94964	3.605	0.47659	D	0.999485	D	0.89917	1.0	D	0.97110	1.0	D	0.97262	0.9905	10	0.87932	D	0	-39.3817	11.6276	0.51156	0.0:0.0:1.0:0.0	.	146	P20333	TNR1B_HUMAN	C	146	ENSP00000365435:G146C;ENSP00000440425:G146C	ENSP00000365435:G146C	G	+	1	0	TNFRSF1B	12174546	0.991000	0.36638	0.756000	0.31282	0.095000	0.18619	2.586000	0.46119	2.198000	0.70561	0.555000	0.69702	GGC		0.682	TNFRSF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005133.1		NM_001066		58	5	1	0	6.75472e-32	0.01441	9.01171e-32	58	5		
UBR4	23352	broad.mit.edu	37	1	19404471	19404471	+	Splice_Site	SNP	T	T	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:19404471T>G	ENST00000375254.3	-	104	15350	c.15323A>C	c.(15322-15324)aAg>aCg	p.K5108T	UBR4_ENST00000375217.2_Splice_Site_p.K5101T|RP5-1126H10.2_ENST00000606379.1_RNA|UBR4_ENST00000375267.2_Splice_Site_p.K5108T|UBR4_ENST00000429347.2_Splice_Site_p.K631T|UBR4_ENST00000375224.1_Splice_Site_p.K815T|UBR4_ENST00000375225.3_Splice_Site_p.K183T|UBR4_ENST00000543981.1_Splice_Site_p.K772T|UBR4_ENST00000375226.2_Splice_Site_p.K5084T	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	5108					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CCTCCTTACCTTAAACATGTT	0.507																																						uc001bbi.2		NaN																	0				kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(15322-15324)AAG>ACG		retinoblastoma-associated factor 600							102.0	81.0	88.0					1																	19404471		2203	4300	6503	SO:0001630	splice_region_variant	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19404471T>G	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.15324+1A>C	1.37:g.19404471T>G						UBR4_uc001bbe.1_5'Flank|UBR4_uc001bbf.2_Missense_Mutation_p.K3T|UBR4_uc010ocv.1_Missense_Mutation_p.K631T|UBR4_uc009vph.2_Missense_Mutation_p.K742T|UBR4_uc010ocw.1_Missense_Mutation_p.K772T|UBR4_uc001bbg.2_Missense_Mutation_p.K819T|UBR4_uc001bbh.2_Missense_Mutation_p.K817T	p.K5108T	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	104	15327	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	5108					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.15323A>C	CCDS189.1	.	.	.	.	.	.	.	.	.	.	T	16.28	3.079380	0.55753	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000375225;ENST00000375224;ENST00000429347;ENST00000543981	T;T;T;T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27;1.27;1.27;1.27	5.6	5.6	0.85130	.	0.052012	0.85682	D	0.000000	T	0.40423	0.1116	L	0.59436	1.845	0.46586	D	0.999111	B;B;P;B	0.35468	0.157;0.284;0.503;0.13	B;B;B;B	0.39805	0.115;0.214;0.31;0.043	T	0.21211	-1.0252	10	0.34782	T	0.22	.	14.6642	0.68896	0.0:0.0:0.0:1.0	.	772;631;5108;5084	B4DYV5;B4DPF6;Q5T4S7;Q5T4S7-3	.;.;UBR4_HUMAN;.	T	5108;5108;5101;5084;183;815;631;772	ENSP00000364403:K5108T;ENSP00000364416:K5108T;ENSP00000364365:K5101T;ENSP00000364374:K5084T;ENSP00000364373:K183T;ENSP00000364372:K815T;ENSP00000394173:K631T;ENSP00000444070:K772T	ENSP00000364365:K5101T	K	-	2	0	UBR4	19277058	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.365000	0.66116	2.144000	0.66660	0.529000	0.55759	AAG		0.507	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1		NM_020765	Missense_Mutation	43	2	0	0	0	0.01441	0	43	2		
PTPRU	10076	broad.mit.edu	37	1	29638200	29638200	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:29638200G>C	ENST00000345512.3	+	22	3160	c.3031G>C	c.(3031-3033)Gac>Cac	p.D1011H	PTPRU_ENST00000323874.8_Missense_Mutation_p.D1007H|PTPRU_ENST00000428026.2_Missense_Mutation_p.D998H|PTPRU_ENST00000356870.3_Missense_Mutation_p.D1007H|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000373779.3_Missense_Mutation_p.D1001H|PTPRU_ENST00000460170.2_Missense_Mutation_p.D1007H	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1011	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CACCTACGGGGACATCAAGAT	0.607																																						uc001bru.2		NaN																	0				large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7						c.(3031-3033)GAC>CAC		protein tyrosine phosphatase, receptor type, U							136.0	119.0	125.0					1																	29638200		2203	4300	6503	SO:0001583	missense	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29638200G>C	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.3031G>C	1.37:g.29638200G>C	ENSP00000334941:p.Asp1011His					PTPRU_uc001brv.2_Missense_Mutation_p.D1007H|PTPRU_uc001brw.2_Missense_Mutation_p.D1001H|PTPRU_uc009vtq.2_Missense_Mutation_p.D1007H|PTPRU_uc009vtr.2_Missense_Mutation_p.D998H	p.D1011H	NM_005704	NP_005695	Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	22	3141	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	1011			Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	c.3031G>C	CCDS334.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.578347	0.86645	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	D;D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83;-1.83	4.67	4.67	0.58626	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	D	0.90239	0.6948	L	0.54323	1.7	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.89347	0.3658	9	.	.	.	.	17.1105	0.86673	0.0:0.0:1.0:0.0	.	998;1007;1001;1007;1011	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	H	1011;1001;1007;1007;998;1007	ENSP00000334941:D1011H;ENSP00000362884:D1001H;ENSP00000349333:D1007H;ENSP00000314987:D1007H;ENSP00000392332:D998H;ENSP00000432906:D1007H	.	D	+	1	0	PTPRU	29510787	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.652000	0.98499	2.592000	0.87571	0.591000	0.81541	GAC		0.607	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1				45	88	0	0	0	0.013114	0	45	88		
UROD	7389	broad.mit.edu	37	1	45480182	45480182	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:45480182C>T	ENST00000246337.4	+	7	827	c.708C>T	c.(706-708)taC>taT	p.Y236Y	UROD_ENST00000494399.1_3'UTR	NM_000374.4	NP_000365.3	P06132	DCUP_HUMAN	uroporphyrinogen decarboxylase	236					heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	uroporphyrinogen decarboxylase activity (GO:0004853)			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					CACTGCCTTACATCCGTGATG	0.542									Porphyria Cutanea Tarda, Type II		OREG0013449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001cna.1		NaN																	0					0						c.(706-708)TAC>TAT		uroporphyrinogen decarboxylase							81.0	74.0	77.0					1																	45480182		2203	4300	6503	SO:0001819	synonymous_variant	7389	Porphyria_Cutanea_Tarda_Type_II	Familial Cancer Database	PCT-II		cytosol|microtubule cytoskeleton|nucleus	uroporphyrinogen decarboxylase activity	g.chr1:45480182C>T	BC001778	CCDS518.1	1p34	2012-10-02			ENSG00000126088	ENSG00000126088	4.1.1.37		12591	protein-coding gene	gene with protein product		613521				3015909, 3460962	Standard	NM_000374		Approved		uc001cna.2	P06132	OTTHUMG00000008949	ENST00000246337.4:c.708C>T	1.37:g.45480182C>T			OREG0013449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	931	UROD_uc001cnb.1_Silent_p.Y201Y|UROD_uc010olj.1_3'UTR|UROD_uc001cnc.1_Silent_p.Y141Y	p.Y236Y	NM_000374	NP_000365	P06132	DCUP_HUMAN			7	816	+	Acute lymphoblastic leukemia(166;0.155)		236					A8K762|Q16863|Q16883|Q53YB8|Q53ZP6|Q6IB28|Q9BUZ0	Silent	SNP	ENST00000246337.4	37	c.708C>T	CCDS518.1	.	.	.	.	.	.	.	.	.	.	C	1.814	-0.473907	0.04414	.	.	ENSG00000126088	ENST00000428106	.	.	.	5.16	-2.89	0.05665	.	.	.	.	.	T	0.62720	0.2451	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59343	-0.7472	4	.	.	.	-47.6793	12.9983	0.58660	0.0:0.3381:0.0:0.6619	.	.	.	.	Y	176	.	.	H	+	1	0	UROD	45252769	0.994000	0.37717	0.379000	0.26080	0.500000	0.33767	0.363000	0.20301	-0.818000	0.04329	-0.793000	0.03317	CAT		0.542	UROD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024803.1		NM_000374		67	3	0	0	0	0.01441	0	67	3		
USP24	23358	broad.mit.edu	37	1	55549036	55549036	+	Splice_Site	SNP	T	T	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:55549036T>G	ENST00000294383.6	-	58	6883	c.6884A>C	c.(6883-6885)cAa>cCa	p.Q2295P	USP24_ENST00000407756.1_Splice_Site_p.Q2135P	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2295					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						CCTAATTCCTTGCTGTCACAA	0.393																																						uc001cyg.3		NaN																	0				ovary(6)|kidney(6)|breast(1)	13						c.(6403-6405)CAA>CCA		ubiquitin specific protease 24							72.0	68.0	69.0					1																	55549036		1899	4126	6025	SO:0001630	splice_region_variant	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55549036T>G	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.6883-1A>C	1.37:g.55549036T>G							p.Q2135P	NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN			55	6404	-			2295					Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	37	c.6404A>C	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	T	12.59	1.984524	0.35036	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.02177	4.41;4.42	5.84	5.84	0.93424	.	0.144722	0.47093	D	0.000244	T	0.01627	0.0052	N	0.08118	0	0.44611	D	0.997581	P	0.40211	0.707	B	0.31614	0.133	T	0.69628	-0.5094	10	0.48119	T	0.1	.	16.2141	0.82191	0.0:0.0:0.0:1.0	.	2135	B7WPF4	.	P	2295;2135	ENSP00000294383:Q2295P;ENSP00000385700:Q2135P	ENSP00000294383:Q2295P	Q	-	2	0	USP24	55321624	1.000000	0.71417	1.000000	0.80357	0.557000	0.35523	6.147000	0.71783	2.230000	0.72887	0.528000	0.53228	CAA		0.393	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			Missense_Mutation	26	6	0	0	0	0.021523	0	26	6		
INADL	10207	broad.mit.edu	37	1	62240939	62240939	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:62240939G>T	ENST00000371158.2	+	7	896	c.782G>T	c.(781-783)gGa>gTa	p.G261V	INADL_ENST00000316485.6_Missense_Mutation_p.G261V	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	261	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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						CTAGGTTTTGGAATAGTTGGA	0.413																																						uc001dab.2		NaN																	0				ovary(3)|skin(1)	4						c.(781-783)GGA>GTA		InaD-like							261.0	251.0	254.0					1																	62240939		2203	4300	6503	SO:0001583	missense	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62240939G>T	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.782G>T	1.37:g.62240939G>T	ENSP00000360200:p.Gly261Val					INADL_uc009waf.1_Missense_Mutation_p.G261V|INADL_uc001daa.2_Missense_Mutation_p.G261V|INADL_uc001dad.3_5'UTR	p.G261V	NM_176877	NP_795352	Q8NI35	INADL_HUMAN			7	896	+			261			PDZ 2.		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	c.782G>T	CCDS617.2	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250391	0.80024	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	T;T	0.26373	1.74;1.74	5.28	5.28	0.74379	PDZ/DHR/GLGF (4);	0.000000	0.64402	D	0.000002	T	0.39279	0.1072	N	0.21545	0.675	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.97110	0.986;1.0;0.998	T	0.20472	-1.0274	10	0.41790	T	0.15	.	18.906	0.92462	0.0:0.0:1.0:0.0	.	261;261;261	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	V	261	ENSP00000360200:G261V;ENSP00000326199:G261V	ENSP00000255202:G261V	G	+	2	0	INADL	62013527	1.000000	0.71417	0.997000	0.53966	0.727000	0.41649	9.204000	0.95041	2.455000	0.83008	0.650000	0.86243	GGA		0.413	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2		NM_170605		61	96	1	0	6.70656e-16	0.01441	7.80323e-16	61	96		
KANK4	163782	broad.mit.edu	37	1	62739459	62739459	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:62739459G>A	ENST00000371153.4	-	3	1695	c.1317C>T	c.(1315-1317)agC>agT	p.S439S	KANK4_ENST00000371150.1_5'Flank|KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	439						cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CAGACTCCATGCTGCCTAGAA	0.562																																						uc001dah.3		NaN																	0				ovary(3)|skin(2)|lung(1)	6						c.(1315-1317)AGC>AGT		ankyrin repeat domain 38							192.0	183.0	186.0					1																	62739459		2203	4300	6503	SO:0001819	synonymous_variant	163782							g.chr1:62739459G>A	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.1317C>T	1.37:g.62739459G>A						KANK4_uc001dai.3_Intron|KANK4_uc001dag.3_5'Flank	p.S439S	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN			3	1694	-			439					B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Silent	SNP	ENST00000371153.4	37	c.1317C>T	CCDS620.1																																																																																				0.562	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1		NM_181712		116	105	0	0	0	0.01441	0	116	105		
SGIP1	84251	broad.mit.edu	37	1	67147961	67147961	+	Missense_Mutation	SNP	A	A	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:67147961A>T	ENST00000371037.4	+	15	1301	c.1224A>T	c.(1222-1224)agA>agT	p.R408S	SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.R412S|SGIP1_ENST00000371039.1_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	408	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TGGGACAAAGAGCAACTCCAC	0.512																																						uc001dcr.2		NaN																	0				ovary(3)	3						c.(1222-1224)AGA>AGT		SH3-domain GRB2-like (endophilin) interacting							85.0	97.0	93.0					1																	67147961		2203	4300	6503	SO:0001583	missense	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67147961A>T	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1224A>T	1.37:g.67147961A>T	ENSP00000360076:p.Arg408Ser					SGIP1_uc010opd.1_Intron|SGIP1_uc001dcs.2_Intron|SGIP1_uc001dct.2_Intron|SGIP1_uc009wat.2_Missense_Mutation_p.R175S	p.R408S	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN			15	1441	+			408			Pro-rich.		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	c.1224A>T	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	A	18.89	3.720573	0.68959	.	.	ENSG00000118473	ENST00000237247;ENST00000371038;ENST00000407289;ENST00000371037	T;T	0.20881	2.04;2.36	5.19	4.05	0.47172	.	0.171071	0.50627	D	0.000111	T	0.18425	0.0442	L	0.50333	1.59	0.80722	D	1	D;D	0.63880	0.993;0.967	D;P	0.72338	0.977;0.879	T	0.13629	-1.0502	10	0.07990	T	0.79	-18.9082	8.0561	0.30606	0.8465:0.0:0.1535:0.0	.	411;408	A6NEV3;Q9BQI5	.;SGIP1_HUMAN	S	412;411;411;408	ENSP00000237247:R412S;ENSP00000360076:R408S	ENSP00000237247:R412S	R	+	3	2	SGIP1	66920549	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.372000	0.59530	2.079000	0.62486	0.374000	0.22700	AGA		0.512	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4		NM_032291		26	179	0	0	0	0.004656	0	26	179		
MIER1	57708	broad.mit.edu	37	1	67436628	67436628	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:67436628A>G	ENST00000355356.3	+	8	900	c.751A>G	c.(751-753)Aaa>Gaa	p.K251E	MIER1_ENST00000371016.1_Missense_Mutation_p.K268E|MIER1_ENST00000371018.3_Missense_Mutation_p.K268E|MIER1_ENST00000355977.6_Missense_Mutation_p.K188E|MIER1_ENST00000401041.1_Missense_Mutation_p.K304E|MIER1_ENST00000371014.1_Missense_Mutation_p.K304E|MIER1_ENST00000401042.3_Missense_Mutation_p.K251E|MIER1_ENST00000357692.2_Missense_Mutation_p.K268E	NM_001077701.2|NM_001077704.2	NP_001071169.1|NP_001071172.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	251	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.|Interaction with HDAC1.				positive regulation of chromatin silencing (GO:0031937)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						ATCTCACATAAAAGACAATGA	0.353																																						uc001dde.2		NaN																	0				ovary(1)	1						c.(910-912)AAA>GAA		mesoderm induction early response 1 isoform b							91.0	88.0	89.0					1																	67436628		1856	4107	5963	SO:0001583	missense	57708				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr1:67436628A>G		CCDS41347.1, CCDS41348.1, CCDS53325.1, CCDS53326.1, CCDS53327.1, CCDS53328.1, CCDS53329.1, CCDS53330.1, CCDS60163.1	1p31.2	2013-07-23	2013-07-23		ENSG00000198160	ENSG00000198160			29657	protein-coding gene	gene with protein product			"""mesoderm induction early response 1 homolog (Xenopus laevis)"""			12242014, 12482978	Standard	NM_020948		Approved	hMI-ER1, MI-ER1, KIAA1610	uc001dde.2	Q8N108	OTTHUMG00000009194	ENST00000355356.3:c.751A>G	1.37:g.67436628A>G	ENSP00000347514:p.Lys251Glu					MIER1_uc010opf.1_Missense_Mutation_p.K268E|MIER1_uc009way.2_Missense_Mutation_p.K268E|MIER1_uc001ddc.2_Missense_Mutation_p.K304E|MIER1_uc001ddh.2_Missense_Mutation_p.K188E|MIER1_uc001ddf.2_Missense_Mutation_p.K268E|MIER1_uc001ddg.2_Missense_Mutation_p.K224E|MIER1_uc010opg.1_Missense_Mutation_p.K268E|MIER1_uc001ddj.1_Missense_Mutation_p.K251E|MIER1_uc001ddi.2_Missense_Mutation_p.K251E	p.K304E	NM_001077700	NP_001071168	Q8N108	MIER1_HUMAN			9	1044	+			275			ELM2.|Interaction with HDAC1.		C9JFD4|Q08AE0|Q32NC4|Q5T104|Q5TAD1|Q5TAD2|Q5TAD4|Q5TAD5|Q6AHY8|Q86TB4|Q8N156|Q8N161|Q8NC37|Q8NES4|Q8NES5|Q8NES6|Q8WWG2|Q9HCG2	Missense_Mutation	SNP	ENST00000355356.3	37	c.910A>G	CCDS41348.1	.	.	.	.	.	.	.	.	.	.	A	29.4	4.998871	0.93227	.	.	ENSG00000198160	ENST00000371017;ENST00000371018;ENST00000355977;ENST00000357692;ENST00000401041;ENST00000371016;ENST00000371014;ENST00000401042;ENST00000355356	T;T;T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83	5.52	5.52	0.82312	ELM2 domain (1);	0.000000	0.85682	D	0.000000	T	0.61540	0.2355	M	0.72894	2.215	0.80722	D	1	P;D;D;D;D;D;D;D;D	0.71674	0.944;0.997;0.998;0.996;0.982;0.997;0.998;0.972;0.972	P;D;D;D;D;D;D;P;P	0.80764	0.715;0.985;0.994;0.987;0.932;0.985;0.994;0.694;0.694	T	0.66991	-0.5783	10	0.87932	D	0	-48.6089	15.6129	0.76740	1.0:0.0:0.0:0.0	.	268;268;251;251;188;275;268;304;304	Q5TAD2;Q32NC4;Q8N108-3;Q8N108-6;Q08AE0;Q8N108;Q8N108-10;Q5TAD5;Q5TAD4	.;.;.;.;.;MIER1_HUMAN;.;.;.	E	272;268;188;268;304;268;304;251;251	ENSP00000360057:K268E;ENSP00000348253:K188E;ENSP00000350321:K268E;ENSP00000383820:K304E;ENSP00000360055:K268E;ENSP00000360053:K304E;ENSP00000383821:K251E;ENSP00000347514:K251E	ENSP00000347514:K251E	K	+	1	0	MIER1	67209216	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.127000	0.77210	2.230000	0.72887	0.528000	0.53228	AAA		0.353	MIER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025491.2		NM_020948		19	42	0	0	0	0.01892	0	19	42		
FPGT	8790	broad.mit.edu	37	1	74670542	74670542	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:74670542G>C	ENST00000609362.1	+	4	848	c.811G>C	c.(811-813)Gat>Cat	p.D271H	FPGT-TNNI3K_ENST00000557284.2_Intron|FPGT_ENST00000534056.1_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT_ENST00000370894.5_Intron|FPGT_ENST00000370898.3_Missense_Mutation_p.D284H|FPGT-TNNI3K_ENST00000533006.1_Intron|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	271					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)			breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						TGTCTACACAGATAGCCTATT	0.368																																						uc001dgb.1		NaN																	0				skin(1)	1						c.(811-813)GAT>CAT		fucose-1-phosphate guanyltransferase							39.0	39.0	39.0					1																	74670542		2202	4300	6502	SO:0001583	missense	8790				fucose metabolic process	cytoplasm	fucose-1-phosphate guanylyltransferase activity|GTP binding	g.chr1:74670542G>C	AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.811G>C	1.37:g.74670542G>C	ENSP00000476680:p.Asp271His					TNNI3K_uc001dgc.1_Intron|TNNI3K_uc001dgd.2_Intron|TNNI3K_uc001dge.1_Intron|FPGT_uc010oqt.1_Intron|FPGT_uc010oqu.1_Intron|FPGT_uc010oqv.1_Intron	p.D271H	NM_003838	NP_003829	O14772	FPGT_HUMAN			4	848	+			271					A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Missense_Mutation	SNP	ENST00000609362.1	37	c.811G>C	CCDS663.1	.	.	.	.	.	.	.	.	.	.	G	19.89	3.911193	0.72983	.	.	ENSG00000254685	ENST00000370898	T	0.34667	1.35	5.57	5.57	0.84162	L-fucokinase (1);	.	.	.	.	T	0.60843	0.2300	M	0.85041	2.73	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63857	-0.6542	8	.	.	.	.	19.5527	0.95328	0.0:0.0:1.0:0.0	.	271	O14772	FPGT_HUMAN	H	271	ENSP00000359935:D271H	.	D	+	1	0	TNNI3K	74443130	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	9.476000	0.97823	2.618000	0.88619	0.591000	0.81541	GAT		0.368	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding					25	21	0	0	0	0.021523	0	25	21		
BARHL2	343472	broad.mit.edu	37	1	91178154	91178154	+	Silent	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:91178154C>A	ENST00000370445.4	-	3	920	c.879G>T	c.(877-879)gtG>gtT	p.V293V		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	293					cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	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)			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		ACTCCAGGCCCACCGCTGTCT	0.617																																					GBM(199;3561 4100 22440)	uc001dns.2		NaN																	0				ovary(1)	1						c.(877-879)GTG>GTT		BarH-like homeobox 2							23.0	22.0	23.0					1																	91178154		2202	4293	6495	SO:0001819	synonymous_variant	343472					nucleus	sequence-specific DNA binding	g.chr1:91178154C>A	AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"""Homeoboxes / ANTP class : NKL subclass"""	954	protein-coding gene	gene with protein product		605212	"""BarH (Drosophila)-like 2"""				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.879G>T	1.37:g.91178154C>A							p.V293V	NM_020063	NP_064447	Q9NY43	BARH2_HUMAN		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)	3	921	-		all_lung(203;0.0263)|Lung SC(238;0.128)	293					A0AVP2|Q7Z4N7	Silent	SNP	ENST00000370445.4	37	c.879G>T	CCDS730.1																																																																																				0.617	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027728.2				17	19	1	0	9.16793e-09	0.00499	9.76622e-09	17	19		
CCDC18	343099	broad.mit.edu	37	1	93667528	93667528	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:93667528G>A	ENST00000343253.7	+	7	1280	c.778G>A	c.(778-780)Gct>Act	p.A260T	CCDC18_ENST00000557479.1_Missense_Mutation_p.A378T|CCDC18_ENST00000334652.5_De_novo_Start_OutOfFrame|CCDC18_ENST00000338949.4_Missense_Mutation_p.A59T|CCDC18_ENST00000401026.3_Missense_Mutation_p.A260T			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	260										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		AAAAAAAGTGGCTGAAAAACT	0.308																																						uc001dpq.2		NaN																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(1132-1134)GCT>ACT		sarcoma antigen NY-SAR-41							39.0	39.0	39.0					1																	93667528		1800	4067	5867	SO:0001583	missense	343099							g.chr1:93667528G>A			1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.778G>A	1.37:g.93667528G>A	ENSP00000343377:p.Ala260Thr						p.A378T	NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	7	1300	+		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)	260			Potential.		Q6ZU17	Missense_Mutation	SNP	ENST00000343253.7	37	c.1132G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.32|14.32	2.501108|2.501108	0.44455|0.44455	.|.	.|.	ENSG00000122483|ENSG00000122483	ENST00000343253;ENST00000401026;ENST00000557479;ENST00000338949|ENST00000370276	.|.	.|.	.|.	5.21|5.21	5.21|5.21	0.72293|0.72293	.|.	0.303702|.	0.31797|.	N|.	0.007050|.	T|.	0.42108|.	0.1188|.	L|L	0.39633|0.39633	1.23|1.23	0.80722|0.80722	D|D	1|1	P|.	0.41393|.	0.748|.	B|.	0.36134|.	0.218|.	T|.	0.36792|.	-0.9733|.	9|.	0.21014|.	T|.	0.42|.	.|.	8.7708|8.7708	0.34731|0.34731	0.1352:0.0:0.8648:0.0|0.1352:0.0:0.8648:0.0	.|.	378|.	G3V388|.	.|.	T|X	260;260;378;59|313	.|.	ENSP00000344380:A59T|.	A|W	+|+	1|3	0|0	CCDC18|CCDC18	93440116|93440116	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.549000|0.549000	0.35272|0.35272	2.428000|2.428000	0.44749|0.44749	2.585000|2.585000	0.87301|0.87301	0.650000|0.650000	0.86243|0.86243	GCT|TGG		0.308	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1		NM_206886		17	17	0	0	0	0.00499	0	17	17		
ANKRD35	148741	broad.mit.edu	37	1	145561389	145561389	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:145561389C>T	ENST00000355594.4	+	10	1164	c.1077C>T	c.(1075-1077)ggC>ggT	p.G359G		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	359										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GAAAGCAAGGCTCTAGTCTCC	0.582																																					Melanoma(9;127 754 22988 51047)	uc001eob.1		NaN																	0				ovary(4)|skin(1)	5						c.(1075-1077)GGC>GGT		ankyrin repeat domain 35							37.0	38.0	38.0					1																	145561389		2203	4300	6503	SO:0001819	synonymous_variant	148741							g.chr1:145561389C>T	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.1077C>T	1.37:g.145561389C>T						NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Silent_p.G202G	p.G359G	NM_144698	NP_653299	Q8N283	ANR35_HUMAN			10	1185	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		359					A6NEU0|B4DL62|Q3MJ10|Q96LS3	Silent	SNP	ENST00000355594.4	37	c.1077C>T	CCDS919.1																																																																																				0.582	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1		NM_144698		22	30	0	0	0	0.010504	0	22	30		
HIST2H3D	653604	broad.mit.edu	37	1	149785176	149785176	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:149785176G>A	ENST00000331491.1	-	1	60	c.61C>T	c.(61-63)Ctg>Ttg	p.L21L	HIST2H2BF_ENST00000427880.2_5'Flank|HIST2H2BF_ENST00000469483.1_5'Flank|RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000545683.1_5'Flank|HIST2H2BF_ENST00000369167.1_5'Flank	NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN	histone cluster 2, H3d	21					blood coagulation (GO:0007596)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						TTGGTAGCCAGCTGCTTCCTC	0.667																																						uc010pbl.1		NaN																	0					0						c.(61-63)CTG>TTG		histone cluster 2, H3d							10.0	11.0	10.0					1																	149785176		1455	3389	4844	SO:0001819	synonymous_variant	653604				blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr1:149785176G>A	AL591493	CCDS41388.1	1q21.2	2012-03-08	2006-10-11		ENSG00000183598	ENSG00000183598		"""Histones / Replication-dependent"""	25311	protein-coding gene	gene with protein product			"""histone 2, H3d"""				Standard	NM_001123375		Approved		uc010pbl.2	Q71DI3	OTTHUMG00000012092	ENST00000331491.1:c.61C>T	1.37:g.149785176G>A						HIST2H2BF_uc010pbj.1_5'Flank|HIST2H2BF_uc010pbk.1_5'Flank|HIST2H2BF_uc001esr.2_5'Flank	p.L21L	NM_001123375	NP_001116847	Q71DI3	H32_HUMAN			1	61	-			21					A2BDF6|A6NFS4|Q6B053	Silent	SNP	ENST00000331491.1	37	c.61C>T	CCDS41388.1																																																																																				0.667	HIST2H3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033452.1		NM_001123375		21	75	0	0	0	0.012213	0	21	75		
SNX27	81609	broad.mit.edu	37	1	151611551	151611551	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:151611551G>A	ENST00000458013.2	+	2	619	c.499G>A	c.(499-501)Gtc>Atc	p.V167I	SNX27_ENST00000368843.3_Missense_Mutation_p.V167I|SNX27_ENST00000368838.1_Missense_Mutation_p.V74I			Q96L92	SNX27_HUMAN	sorting nexin family member 27	167	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCCCATATCGGTCCCCAGATA	0.463																																					Colon(46;291 966 40145 41237 41888)	uc001eyn.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(499-501)GTC>ATC		sorting nexin family member 27							82.0	78.0	79.0					1																	151611551		2203	4300	6503	SO:0001583	missense	81609				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding	g.chr1:151611551G>A	AB007957	CCDS1001.1	1q21.3	2008-03-11			ENSG00000143376	ENSG00000143376		"""Sorting nexins"""	20073	protein-coding gene	gene with protein product		611541				12461558	Standard	XM_005245509		Approved	MY014, KIAA0488, MGC20471	uc001eyn.1	Q96L92	OTTHUMG00000013052	ENST00000458013.2:c.499G>A	1.37:g.151611551G>A	ENSP00000400333:p.Val167Ile					SNX27_uc001eyo.2_Missense_Mutation_p.V74I|SNX27_uc001eyp.2_5'UTR	p.V167I	NM_030918	NP_112180	Q96L92	SNX27_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	515	+	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		167			PX.		Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	Missense_Mutation	SNP	ENST00000458013.2	37	c.499G>A		.	.	.	.	.	.	.	.	.	.	G	3.465	-0.109142	0.06924	.	.	ENSG00000143376	ENST00000458013;ENST00000368843;ENST00000368838	T;T;T	0.43688	1.49;1.49;0.94	4.66	4.66	0.58398	Phox homologous domain (4);	0.185770	0.47455	D	0.000225	T	0.03827	0.0108	N	0.00783	-1.19	0.43351	D	0.995416	B;B	0.02656	0.0;0.0	B;B	0.10450	0.004;0.005	T	0.45702	-0.9243	10	0.02654	T	1	.	6.9341	0.24457	0.1862:0.0:0.8138:0.0	.	167;167	Q96L92;Q96L92-3	SNX27_HUMAN;.	I	167;167;74	ENSP00000400333:V167I;ENSP00000357836:V167I;ENSP00000357831:V74I	ENSP00000357831:V74I	V	+	1	0	SNX27	149878175	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.715000	0.54897	2.414000	0.81942	0.591000	0.81541	GTC		0.463	SNX27-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000036624.3		NM_030918		49	73	0	0	0	0.01441	0	49	73		
EFNA1	1942	broad.mit.edu	37	1	155104034	155104034	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:155104034G>A	ENST00000368407.3	+	2	830	c.312G>A	c.(310-312)ctG>ctA	p.L104L	EFNA1_ENST00000368406.2_Silent_p.L104L|EFNA1_ENST00000469878.1_3'UTR	NM_004428.2	NP_004419.2	P20827	EFNA1_HUMAN	ephrin-A1	104	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|ephrin receptor signaling pathway (GO:0048013)|mitral valve morphogenesis (GO:0003183)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|notochord formation (GO:0014028)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of angiogenesis (GO:0045765)|regulation of axonogenesis (GO:0050770)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|substrate adhesion-dependent cell spreading (GO:0034446)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ephrin receptor binding (GO:0046875)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|kidney(1)|lung(1)|skin(1)	5	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			CGGAGAAGCTGTCTGAGAAGT	0.582																																						uc001fhh.2		NaN																	0					0						c.(310-312)CTG>CTA		ephrin A1 isoform a precursor							52.0	46.0	48.0					1																	155104034		2203	4300	6503	SO:0001819	synonymous_variant	1942				angiogenesis|aortic valve morphogenesis|cell migration|cell-cell signaling|endocardial cushion to mesenchymal transition involved in heart valve formation|ephrin receptor signaling pathway|mitral valve morphogenesis|negative regulation of epithelial to mesenchymal transition|negative regulation of transcription from RNA polymerase II promoter|positive regulation of peptidyl-tyrosine phosphorylation|regulation of cell adhesion mediated by integrin|substrate adhesion-dependent cell spreading	extracellular region|integral to plasma membrane	ephrin receptor binding	g.chr1:155104034G>A		CCDS1091.1, CCDS1092.1	1q21-q22	2011-03-09			ENSG00000169242	ENSG00000169242		"""Ephrins"""	3221	protein-coding gene	gene with protein product		191164		TNFAIP4, EPLG1		2233719, 8660976	Standard	NM_182685		Approved	LERK1, ECKLG	uc001fhh.3	P20827	OTTHUMG00000035312	ENST00000368407.3:c.312G>A	1.37:g.155104034G>A						EFNA1_uc001fhi.2_Silent_p.L104L|EFNA1_uc009wpd.1_5'Flank	p.L104L	NM_004428	NP_004419	P20827	EFNA1_HUMAN	Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)		2	417	+	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		104					D3DV86|Q5SR60|Q5SR61|Q6I9T9|Q8N578	Silent	SNP	ENST00000368407.3	37	c.312G>A	CCDS1091.1																																																																																				0.582	EFNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085428.1		NM_004428		22	41	0	0	0	0.012319	0	22	41		
CCT3	7203	broad.mit.edu	37	1	156294831	156294831	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:156294831G>C	ENST00000295688.3	-	6	634	c.354C>G	c.(352-354)caC>caG	p.H118Q	CCT3_ENST00000368261.3_Missense_Mutation_p.H73Q|CCT3_ENST00000368259.2_Missense_Mutation_p.H80Q|CCT3_ENST00000472765.2_Missense_Mutation_p.H73Q	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	118					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CCACTGTTGGGTGCATCTGCT	0.433																																						uc001fol.1		NaN																	0				ovary(1)|skin(1)	2						c.(352-354)CAC>CAG		chaperonin containing TCP1, subunit 3 isoform a							107.0	95.0	99.0					1																	156294831		2203	4300	6503	SO:0001583	missense	7203				'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding	g.chr1:156294831G>C	BC008019	CCDS1140.2, CCDS30888.1	1q23	2011-09-02			ENSG00000163468	ENSG00000163468		"""Heat Shock Proteins / Chaperonins"""	1616	protein-coding gene	gene with protein product		600114		TRIC5		8110840	Standard	NM_005998		Approved	Cctg	uc001fol.2	P49368	OTTHUMG00000024061	ENST00000295688.3:c.354C>G	1.37:g.156294831G>C	ENSP00000295688:p.His118Gln					CCT3_uc001fom.1_Missense_Mutation_p.H117Q|CCT3_uc001fon.1_Missense_Mutation_p.H80Q|CCT3_uc010phj.1_Missense_Mutation_p.H72Q|CCT3_uc010phk.1_Missense_Mutation_p.H72Q|CCT3_uc010phl.1_Missense_Mutation_p.H72Q	p.H118Q	NM_005998	NP_005989	P49368	TCPG_HUMAN			6	574	-	Hepatocellular(266;0.158)		118					A6NE14|Q5SZY1|Q9BR64	Missense_Mutation	SNP	ENST00000295688.3	37	c.354C>G	CCDS1140.2	.	.	.	.	.	.	.	.	.	.	G	19.24	3.790206	0.70337	.	.	ENSG00000163468	ENST00000295688;ENST00000368259;ENST00000368261;ENST00000472765;ENST00000413555;ENST00000496684;ENST00000533194;ENST00000446905;ENST00000478640;ENST00000415548	T;T;T;T;T;T;T;T;T;D	0.91407	-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-2.84	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.97353	0.9134	H	0.99830	4.82	0.51012	D	0.9999	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.993;0.999;0.998	D	0.97599	1.0122	10	0.87932	D	0	-16.135	10.1618	0.42855	0.0906:0.0:0.9094:0.0	.	80;117;118	P49368-2;E9PAQ6;P49368	.;.;TCPG_HUMAN	Q	118;80;73;73;142;117;39;104;97;141	ENSP00000295688:H118Q;ENSP00000357242:H80Q;ENSP00000357244:H73Q;ENSP00000431543:H73Q;ENSP00000413308:H142Q;ENSP00000434232:H117Q;ENSP00000434481:H39Q;ENSP00000388799:H104Q;ENSP00000435026:H97Q;ENSP00000413431:H141Q	ENSP00000295688:H118Q	H	-	3	2	CCT3	154561455	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.703000	0.47110	2.541000	0.85698	0.637000	0.83480	CAC		0.433	CCT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060602.3		NM_005998		37	90	0	0	0	0.021022	0	37	90		
FCRL4	83417	broad.mit.edu	37	1	157557731	157557731	+	Silent	SNP	A	A	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:157557731A>G	ENST00000271532.1	-	4	621	c.486T>C	c.(484-486)aaT>aaC	p.N162N	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	162	Ig-like C2-type 2.				immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GATAATTGCCATTGTTATTTG	0.308																																						uc001fqw.2		NaN																	0				ovary(2)|kidney(1)|skin(1)	4						c.(484-486)AAT>AAC		Fc receptor-like 4 precursor							60.0	57.0	58.0					1																	157557731		2202	4300	6502	SO:0001819	synonymous_variant	83417					integral to membrane|plasma membrane	receptor activity	g.chr1:157557731A>G	AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.486T>C	1.37:g.157557731A>G						FCRL4_uc010phy.1_Intron	p.N162N	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN			4	622	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)	162			Extracellular (Potential).|Ig-like C2-type 2.		Q96PJ3|Q96RE0	Silent	SNP	ENST00000271532.1	37	c.486T>C	CCDS1166.1																																																																																				0.308	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1		NM_031282		13	14	0	0	0	0.016723	0	13	14		
SPTA1	6708	broad.mit.edu	37	1	158590242	158590242	+	Silent	SNP	G	G	A	rs369162735		TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:158590242G>A	ENST00000368147.4	-	44	6315	c.6135C>T	c.(6133-6135)ttC>ttT	p.F2045F		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2045					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAAATTCCACGAACAGGTCCT	0.423																																						uc001fst.1		NaN																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(6133-6135)TTC>TTT		spectrin, alpha, erythrocytic 1		G		0,3746		0,0,1873	58.0	52.0	54.0		6135	4.0	1.0	1		54	1,8219		0,1,4109	no	coding-synonymous	SPTA1	NM_003126.2		0,1,5982	AA,AG,GG		0.0122,0.0,0.0084		2045/2420	158590242	1,11965	1873	4110	5983	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158590242G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6135C>T	1.37:g.158590242G>A							p.F2045F	NM_003126	NP_003117	P02549	SPTA1_HUMAN			44	6334	-	all_hematologic(112;0.0378)		2045			Spectrin 20.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.6135C>T	CCDS41423.1																																																																																				0.423	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3		NM_003126		19	50	0	0	0	0.007413	0	19	50		
SPTA1	6708	broad.mit.edu	37	1	158641934	158641934	+	Missense_Mutation	SNP	C	C	A	rs372937123		TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:158641934C>A	ENST00000368147.4	-	11	1583	c.1403G>T	c.(1402-1404)cGt>cTt	p.R468L		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	468					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.R468H(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTGACGATGACGCTCGTCCCA	0.438																																						uc001fst.1		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(1402-1404)CGT>CTT		spectrin, alpha, erythrocytic 1							111.0	107.0	108.0					1																	158641934		1961	4160	6121	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158641934C>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1403G>T	1.37:g.158641934C>A	ENSP00000357129:p.Arg468Leu						p.R468L	NM_003126	NP_003117	P02549	SPTA1_HUMAN			11	1602	-	all_hematologic(112;0.0378)		468			Spectrin 5.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.1403G>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.089849	0.76756	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.61510	0.1;0.1	5.0	4.09	0.47781	.	0.265080	0.20210	N	0.096925	T	0.72350	0.3449	M	0.90759	3.145	0.45962	D	0.998784	D	0.60160	0.987	D	0.67231	0.95	T	0.78386	-0.2224	10	0.66056	D	0.02	.	12.173	0.54169	0.0:0.9174:0.0:0.0826	.	468	P02549	SPTA1_HUMAN	L	468	ENSP00000357130:R468L;ENSP00000357129:R468L	ENSP00000357129:R468L	R	-	2	0	SPTA1	156908558	1.000000	0.71417	0.108000	0.21378	0.069000	0.16628	4.128000	0.57951	1.335000	0.45486	0.655000	0.94253	CGT		0.438	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3		NM_003126		64	52	1	0	7.73544e-29	0.01441	1.01254e-28	64	52		
SLAMF8	56833	broad.mit.edu	37	1	159802972	159802972	+	Splice_Site	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:159802972G>A	ENST00000289707.5	+	3	822		c.e3+1		SLAMF8_ENST00000368104.4_Splice_Site|C1orf204_ENST00000491974.1_5'Flank|SLAMF8_ENST00000471286.1_Splice_Site	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8						cellular response to drug (GO:0035690)|defense response to bacterium (GO:0042742)|phagosome acidification (GO:0090383)|regulation of kinase activity (GO:0043549)|regulation of NAD(P)H oxidase activity (GO:0033860)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					CATGAGGCAGGTATGCTAAGG	0.562																																						uc001fue.3		NaN																	0					0						c.e3+1		SLAM family member 8 precursor							163.0	138.0	147.0					1																	159802972		2203	4300	6503	SO:0001630	splice_region_variant	56833					integral to membrane		g.chr1:159802972G>A	AF146761	CCDS1188.1	1q23.1	2013-01-11			ENSG00000158714	ENSG00000158714		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21391	protein-coding gene	gene with protein product		606620				11313408	Standard	NM_020125		Approved	BLAME, SBBI42, CD353	uc001fue.4	Q9P0V8	OTTHUMG00000035433	ENST00000289707.5:c.673+1G>A	1.37:g.159802972G>A							p.A225_splice	NM_020125	NP_064510	Q9P0V8	SLAF8_HUMAN			3	883	+	all_hematologic(112;0.0597)							Q32MC6|Q5VU15	Splice_Site	SNP	ENST00000289707.5	37	c.673_splice	CCDS1188.1	.	.	.	.	.	.	.	.	.	.	G	9.705	1.155644	0.21454	.	.	ENSG00000158714	ENST00000289707;ENST00000368104	.	.	.	4.77	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1716	0.59602	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLAMF8	158069596	1.000000	0.71417	0.998000	0.56505	0.215000	0.24574	4.594000	0.61041	2.478000	0.83669	0.561000	0.74099	.		0.562	SLAMF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085983.1		NM_020125	Intron	105	62	0	0	0	0.01441	0	105	62		
DCAF8	50717	broad.mit.edu	37	1	160209813	160209813	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:160209813C>A	ENST00000368073.3	-	4	831	c.397G>T	c.(397-399)Gag>Tag	p.E133*	DCAF8_ENST00000608310.1_Nonsense_Mutation_p.E287*|DCAF8_ENST00000475733.1_Nonsense_Mutation_p.E133*|DCAF8_ENST00000556710.1_Nonsense_Mutation_p.E287*|DCAF8_ENST00000368074.1_Nonsense_Mutation_p.E133*|DCAF8_ENST00000326837.2_Nonsense_Mutation_p.E133*|DCAF8_ENST00000610139.1_Nonsense_Mutation_p.E133*			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	133					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						AGGGCCCGCTCATCATCTGAT	0.612																																						uc001fvo.2		NaN																	0				skin(2)	2						c.(397-399)GAG>TAG		DDB1 and CUL4 associated factor 8							52.0	52.0	52.0					1																	160209813		2203	4300	6503	SO:0001587	stop_gained	50717					CUL4 RING ubiquitin ligase complex	protein binding	g.chr1:160209813C>A	AK093176	CCDS1200.1	1q22-q23	2013-01-09	2009-07-17	2009-07-17	ENSG00000132716	ENSG00000132716		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	24891	protein-coding gene	gene with protein product		615820	"""WD repeat domain 42A"""	WDR42A		11401431	Standard	NM_015726		Approved	H326, FLJ35857	uc010pjb.1	Q5TAQ9	OTTHUMG00000031604	ENST00000368073.3:c.397G>T	1.37:g.160209813C>A	ENSP00000357052:p.Glu133*					DCAF8_uc001fvn.2_Nonsense_Mutation_p.E133*|DCAF8_uc009wth.2_Nonsense_Mutation_p.E133*|DCAF8_uc010pjb.1_Nonsense_Mutation_p.E133*|DCAF8_uc010pjc.1_Nonsense_Mutation_p.E287*|DCAF8_uc001fvq.3_Nonsense_Mutation_p.E133*|DCAF8_uc001fvp.3_Nonsense_Mutation_p.E133*|uc010pjd.1_3'UTR	p.E133*	NM_015726	NP_056541	Q5TAQ9	DCAF8_HUMAN			4	709	-			133					D3DVE6|Q12839|Q4QQI6|Q53F14|Q66K50|Q68CS7|Q96E00	Nonsense_Mutation	SNP	ENST00000368073.3	37	c.397G>T	CCDS1200.1	.	.	.	.	.	.	.	.	.	.	C	36	5.966008	0.97156	.	.	ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000258465	ENST00000368073;ENST00000326837;ENST00000368074;ENST00000555195;ENST00000540855;ENST00000447377;ENST00000556710	.	.	.	4.89	4.89	0.63831	.	0.165270	0.38959	U	0.001518	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-7.326	16.8615	0.86019	0.0:1.0:0.0:0.0	.	.	.	.	X	133;133;133;287;114;133;287	.	ENSP00000318227:E133X	E	-	1	0	RP11-574F21.3;DCAF8	158476437	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.950000	0.63603	2.258000	0.74832	0.555000	0.69702	GAG		0.612	DCAF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077402.2		NM_015726		46	80	1	0	3.21987e-24	0.01441	4.03392e-24	46	80		
UCK2	7371	broad.mit.edu	37	1	165860506	165860506	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:165860506C>T	ENST00000367879.4	+	3	606	c.303C>T	c.(301-303)atC>atT	p.I101I	UCK2_ENST00000372212.4_Silent_p.I101I	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	101					cellular response to oxygen levels (GO:0071453)|CTP salvage (GO:0044211)|feeding behavior (GO:0007631)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|response to axon injury (GO:0048678)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|nucleoside kinase activity (GO:0019206)|uridine kinase activity (GO:0004849)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					TCAAAGAAATCACTGAAGGGA	0.413																																						uc001gdp.2		NaN																	0				ovary(1)	1						c.(301-303)ATC>ATT		uridine-cytidine kinase 2							122.0	119.0	120.0					1																	165860506		2203	4300	6503	SO:0001819	synonymous_variant	7371				pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity	g.chr1:165860506C>T	AF236637	CCDS1252.1	1p32	2012-10-02	2004-07-13	2004-07-14	ENSG00000143179	ENSG00000143179	2.7.1.48		12562	protein-coding gene	gene with protein product		609329	"""uridine monophosphate kinase"""	UMPK			Standard	NM_012474		Approved		uc001gdp.3	Q9BZX2	OTTHUMG00000040117	ENST00000367879.4:c.303C>T	1.37:g.165860506C>T						UCK2_uc010plb.1_Missense_Mutation_p.S11L	p.I101I	NM_012474	NP_036606	Q9BZX2	UCK2_HUMAN			3	484	+	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)		101					Q5VV91|Q7KZV3|Q92528|Q96KG5|Q9BU42	Silent	SNP	ENST00000367879.4	37	c.303C>T	CCDS1252.1																																																																																				0.413	UCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096753.1		NM_012474		37	94	0	0	0	0.005524	0	37	94		
DUSP27	92235	broad.mit.edu	37	1	167096802	167096802	+	Missense_Mutation	SNP	T	T	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:167096802T>G	ENST00000361200.2	+	6	2600	c.2434T>G	c.(2434-2436)Tgc>Ggc	p.C812G	DUSP27_ENST00000443333.1_Missense_Mutation_p.C812G|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.C812G			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	812					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CGCGGAAAGTTGCAGAAGCAA	0.562																																						uc001geb.1		NaN																	0				ovary(3)	3						c.(2434-2436)TGC>GGC		dual specificity phosphatase 27							85.0	78.0	81.0					1																	167096802		2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167096802T>G	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.2434T>G	1.37:g.167096802T>G	ENSP00000354483:p.Cys812Gly						p.C812G	NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN			5	2434	+			812					A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.2434T>G	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	T	0.022	-1.410983	0.01145	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.02944	4.1;4.1;4.1	3.91	-7.82	0.01205	.	19.561000	0.00520	N	0.000181	T	0.00384	0.0012	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44205	-0.9343	10	0.66056	D	0.02	8.5046	1.4898	0.02454	0.1822:0.2554:0.3155:0.2468	.	812	Q5VZP5	DUS27_HUMAN	G	812	ENSP00000354483:C812G;ENSP00000271385:C812G;ENSP00000404874:C812G	ENSP00000271385:C812G	C	+	1	0	DUSP27	165363426	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.078000	0.11375	-1.994000	0.00972	-0.686000	0.03744	TGC		0.562	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1		NM_001080426		88	51	0	0	0	0.01441	0	88	51		
RCSD1	92241	broad.mit.edu	37	1	167653169	167653169	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:167653169C>A	ENST00000367854.3	+	2	370	c.39C>A	c.(37-39)gaC>gaA	p.D13E	RCSD1_ENST00000537350.1_Missense_Mutation_p.D13E	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	13					cellular hyperosmotic response (GO:0071474)|skeletal muscle contraction (GO:0003009)	actin filament (GO:0005884)	actin filament binding (GO:0051015)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CCAATGTGGACAACTCGGCGT	0.587																																						uc001gem.2		NaN																	0				ovary(2)|central_nervous_system(2)|skin(1)	5						c.(37-39)GAC>GAA		RCSD domain containing 1							147.0	158.0	154.0					1																	167653169		2203	4300	6503	SO:0001583	missense	92241							g.chr1:167653169C>A	BC072399	CCDS1263.1	1q24.2	2008-02-05			ENSG00000198771	ENSG00000198771			28310	protein-coding gene	gene with protein product		610579				12477932	Standard	NM_052862		Approved	MK2S4, MGC21854	uc001gem.3	Q6JBY9	OTTHUMG00000035318	ENST00000367854.3:c.39C>A	1.37:g.167653169C>A	ENSP00000356828:p.Asp13Glu					RCSD1_uc010pli.1_Missense_Mutation_p.D13E	p.D13E	NM_052862	NP_443094	Q6JBY9	CPZIP_HUMAN			2	226	+	all_hematologic(923;0.215)		13					B1AK48|Q4G0E7|Q6IN93|Q8IZM2|Q96DX0|Q9NST4	Missense_Mutation	SNP	ENST00000367854.3	37	c.39C>A	CCDS1263.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.236087	0.39498	.	.	ENSG00000198771	ENST00000367854;ENST00000361496;ENST00000537350	T;T	0.56444	0.51;0.46	5.25	3.33	0.38152	.	0.345075	0.29631	N	0.011613	T	0.46678	0.1405	L	0.57536	1.79	0.30443	N	0.776016	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	T	0.44787	-0.9305	9	0.21014	T	0.42	-30.3986	5.8357	0.18605	0.0:0.6644:0.1563:0.1793	.	13;13	B7ZKW8;Q6JBY9	.;CPZIP_HUMAN	E	13	ENSP00000356828:D13E;ENSP00000439409:D13E	ENSP00000355291:D13E	D	+	3	2	RCSD1	165919793	0.670000	0.27512	0.643000	0.29450	0.101000	0.19017	0.188000	0.17018	0.541000	0.28827	0.655000	0.94253	GAC		0.587	RCSD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085451.1		NM_052862		120	313	1	0	2.4537e-52	0.01441	3.45635e-52	120	313		
ASTN1	460	broad.mit.edu	37	1	176863873	176863873	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:176863873G>A	ENST00000367654.3	-	17	3000	c.2789C>T	c.(2788-2790)aCc>aTc	p.T930I	ASTN1_ENST00000361833.2_Missense_Mutation_p.T922I|ASTN1_ENST00000367657.3_Missense_Mutation_p.T922I|ASTN1_ENST00000424564.2_Missense_Mutation_p.T922I	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	930					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CATGTGCTTGGTGCCGGAGTC	0.597																																						uc001glc.2		NaN																	0				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(2764-2766)ACC>ATC		astrotactin isoform 1							109.0	106.0	107.0					1																	176863873		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176863873G>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2789C>T	1.37:g.176863873G>A	ENSP00000356626:p.Thr930Ile					ASTN1_uc001glb.1_Missense_Mutation_p.T922I|ASTN1_uc001gld.1_Missense_Mutation_p.T922I	p.T922I	NM_004319	NP_004310	O14525	ASTN1_HUMAN			17	2977	-			930					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.2765C>T		.	.	.	.	.	.	.	.	.	.	G	18.10	3.547389	0.65311	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.14893	2.47;2.88;2.88;2.47	5.26	4.35	0.52113	.	0.093132	0.85682	D	0.000000	T	0.15262	0.0368	N	0.19112	0.55	0.51233	D	0.999919	P;P	0.40731	0.728;0.728	B;B	0.41988	0.372;0.372	T	0.04961	-1.0915	10	0.72032	D	0.01	-22.6679	16.0478	0.80731	0.0:0.1347:0.8653:0.0	.	922;922	O14525-2;B1AJS1	.;.	I	922;922;930;922;922	ENSP00000356629:T922I;ENSP00000354536:T922I;ENSP00000356626:T930I;ENSP00000395041:T922I	ENSP00000354536:T922I	T	-	2	0	ASTN1	175130496	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.865000	0.69583	1.385000	0.46445	-0.122000	0.15005	ACC		0.597	ASTN1-201	KNOWN	basic	protein_coding	protein_coding			NM_004319		36	142	0	0	0	0.01441	0	36	142		
TEX35	84066	broad.mit.edu	37	1	178483197	178483197	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:178483197G>A	ENST00000319416.2	+	2	187	c.75G>A	c.(73-75)aaG>aaA	p.K25K	TEX35_ENST00000367639.1_Silent_p.K33K|TEX35_ENST00000258298.2_5'UTR|TEX35_ENST00000367641.3_Silent_p.K25K|TEX35_ENST00000367643.3_Silent_p.K25K|TEX35_ENST00000367642.3_Silent_p.K25K	NM_032126.4	NP_115502.2			testis expressed 35																		TGGAATTGAAGCCAGAGCCGA	0.532																																						uc001glt.1		NaN																	0					0						c.(73-75)AAG>AAA		hypothetical protein LOC84066							105.0	97.0	100.0					1																	178483197		2203	4300	6503	SO:0001819	synonymous_variant	84066					microtubule cytoskeleton		g.chr1:178483197G>A	AL136694	CCDS1323.1, CCDS53433.1, CCDS53434.1	1q25.2	2014-01-28	2012-06-29	2012-06-29	ENSG00000240021	ENSG00000240021			25366	protein-coding gene	gene with protein product	"""Testis-Specific Conserved gene 24kDa"""		"""chromosome 1 open reading frame 49"""	C1orf49		11230166, 17077512	Standard	NM_032126		Approved	DKFZP564J047, TSC24	uc001glt.2	Q5T0J7	OTTHUMG00000035023	ENST00000319416.2:c.75G>A	1.37:g.178483197G>A						C1orf49_uc001glu.1_Silent_p.K25K|C1orf49_uc001glv.1_RNA|C1orf49_uc001glw.1_Silent_p.K33K	p.K25K	NM_032126	NP_115502	Q5T0J7	CA049_HUMAN			2	187	+			25						Silent	SNP	ENST00000319416.2	37	c.75G>A	CCDS1323.1																																																																																				0.532	TEX35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084917.1		NM_032126		35	78	0	0	0	0.015359	0	35	78		
QSOX1	5768	broad.mit.edu	37	1	180165664	180165664	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:180165664A>G	ENST00000367602.3	+	12	1810	c.1736A>G	c.(1735-1737)gAc>gGc	p.D579G	QSOX1_ENST00000367600.5_Missense_Mutation_p.D579G			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	579					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)	flavin-linked sulfhydryl oxidase activity (GO:0016971)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TCAACTCTGGACCCTGGGAAG	0.642																																						uc001gnz.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1735-1737)GAC>GGC		quiescin Q6 sulfhydryl oxidase 1 isoform a							84.0	88.0	87.0					1																	180165664		2203	4300	6503	SO:0001583	missense	5768				cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity	g.chr1:180165664A>G	U97276	CCDS1337.1, CCDS30950.1	1q24	2008-02-05	2007-04-23	2007-04-23	ENSG00000116260	ENSG00000116260			9756	protein-coding gene	gene with protein product		603120	"""quiescin Q6"""	QSCN6		9878249, 8396966	Standard	NM_002826		Approved		uc001gnz.3	O00391	OTTHUMG00000035256	ENST00000367602.3:c.1736A>G	1.37:g.180165664A>G	ENSP00000356574:p.Asp579Gly					QSOX1_uc001gny.2_Missense_Mutation_p.D579G|QSOX1_uc001goa.2_Missense_Mutation_p.D579G|QSOX1_uc001goc.2_Missense_Mutation_p.D121G|FLJ23867_uc001god.3_5'Flank	p.D579G	NM_002826	NP_002817	O00391	QSOX1_HUMAN			12	1811	+			579					Q59G29|Q5T2X0|Q8TDL6|Q8WVP4	Missense_Mutation	SNP	ENST00000367602.3	37	c.1736A>G	CCDS1337.1	.	.	.	.	.	.	.	.	.	.	A	3.299	-0.143232	0.06669	.	.	ENSG00000116260	ENST00000367602;ENST00000367600	T;T	0.04234	3.73;3.67	4.99	-5.74	0.02391	.	1.446540	0.04335	N	0.353071	T	0.01523	0.0049	N	0.02315	-0.6	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.0	T	0.44877	-0.9299	10	0.02654	T	1	-0.2822	5.374	0.16154	0.2004:0.4833:0.2246:0.0917	.	579;579;579;579	A8K4C2;A8K477;O00391;O00391-2	.;.;QSOX1_HUMAN;.	G	579	ENSP00000356574:D579G;ENSP00000356572:D579G	ENSP00000356572:D579G	D	+	2	0	QSOX1	178432287	0.000000	0.05858	0.001000	0.08648	0.084000	0.17831	-0.255000	0.08769	-0.641000	0.05487	-0.558000	0.04189	GAC		0.642	QSOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085289.1		NM_002826		74	143	0	0	0	0.01441	0	74	143		
COLGALT2	23127	broad.mit.edu	37	1	183933111	183933111	+	Silent	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:183933111C>A	ENST00000361927.4	-	6	1247	c.876G>T	c.(874-876)ctG>ctT	p.L292L	COLGALT2_ENST00000546159.1_Silent_p.L292L|COLGALT2_ENST00000367520.3_Silent_p.L29L	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	292					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)										GGGGGATGGGCAGGTAGCCAT	0.522																																						uc001gqr.2		NaN																	0				ovary(1)|breast(1)	2						c.(874-876)CTG>CTT		glycosyltransferase 25 domain containing 2							149.0	118.0	128.0					1																	183933111		2203	4300	6503	SO:0001819	synonymous_variant	23127				lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity	g.chr1:183933111C>A	AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 17"", ""glycosyltransferase 25 domain containing 2"""	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.876G>T	1.37:g.183933111C>A						GLT25D2_uc010poj.1_Silent_p.L292L|GLT25D2_uc001gqq.2_Silent_p.L29L|GLT25D2_uc001gqs.2_Silent_p.L172L	p.L292L	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN			6	1248	-			292					O60327|Q9BZR0	Silent	SNP	ENST00000361927.4	37	c.876G>T	CCDS1360.1																																																																																				0.522	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086128.1		NM_015101		24	59	1	0	4.7796e-09	0.004656	5.11114e-09	24	59		
IVNS1ABP	10625	broad.mit.edu	37	1	185278644	185278644	+	Splice_Site	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:185278644C>A	ENST00000367498.3	-	3	605		c.e3-1		IVNS1ABP_ENST00000459929.1_Splice_Site|IVNS1ABP_ENST00000392007.3_Splice_Site|IVNS1ABP_ENST00000367497.1_Splice_Site	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein						negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription from RNA polymerase III promoter (GO:0006383)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|spliceosomal complex (GO:0005681)|transcription factor complex (GO:0005667)				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						ATAAATTTGGCTAGATGATGA	0.299																																						uc001grl.2		NaN																	0				ovary(4)|central_nervous_system(1)	5						c.e3-1		influenza virus NS1A binding protein							45.0	47.0	46.0					1																	185278644		2193	4295	6488	SO:0001630	splice_region_variant	10625				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex		g.chr1:185278644C>A	AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679		"""Kelch-like"", ""BTB/POZ domain containing"""	16951	protein-coding gene	gene with protein product	"""kelch-like family member 39"""	609209				9696811, 10048485	Standard	NM_006469		Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.18-1G>T	1.37:g.185278644C>A						IVNS1ABP_uc009wyj.2_Splice_Site|IVNS1ABP_uc009wyk.2_Splice_Site		NM_006469	NP_006460	Q9Y6Y0	NS1BP_HUMAN			3	606	-								A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Splice_Site	SNP	ENST00000367498.3	37	c.-17_splice	CCDS1368.1																																																																																				0.299	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085774.1		NM_006469	Intron	22	39	1	0	1.40151e-16	0.010504	1.64796e-16	22	39		
PTPRC	5788	broad.mit.edu	37	1	198713182	198713182	+	Splice_Site	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:198713182G>T	ENST00000367376.2	+	26	2862		c.e26-1		PTPRC_ENST00000442510.2_Splice_Site|PTPRC_ENST00000348564.6_Splice_Site|PTPRC_ENST00000594404.1_Splice_Site|PTPRC_ENST00000352140.3_Splice_Site	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C						axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TGAAATTGTAGGCCCAGTACA	0.328																																						uc001gur.1		NaN																	0				breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						c.e26-1		protein tyrosine phosphatase, receptor type, C							115.0	110.0	112.0					1																	198713182		2202	4300	6502	SO:0001630	splice_region_variant	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198713182G>T	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.2692-1G>T	1.37:g.198713182G>T						PTPRC_uc001gus.1_Splice_Site_p.A850_splice|PTPRC_uc001gut.1_Splice_Site_p.A737_splice	p.A898_splice	NM_002838	NP_002829	P08575	PTPRC_HUMAN			26	2872	+								A8K7W6|Q16614|Q9H0Y6	Splice_Site	SNP	ENST00000367376.2	37	c.2692_splice		.	.	.	.	.	.	.	.	.	.	G	20.2	3.957211	0.73902	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.053	0.97634	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTPRC	196979805	1.000000	0.71417	0.997000	0.53966	0.662000	0.39071	9.414000	0.97362	2.733000	0.93635	0.650000	0.86243	.		0.328	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				Intron	32	24	1	0	3.76114e-14	0.019004	4.29512e-14	32	24		
CACNA1S	779	broad.mit.edu	37	1	201016656	201016656	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:201016656C>T	ENST00000362061.3	-	37	4766	c.4540G>A	c.(4540-4542)Gga>Aga	p.G1514R	CACNA1S_ENST00000367338.3_Missense_Mutation_p.G1495R	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1514					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CACCTACCTCCTATTGGAGGG	0.547																																						uc001gvv.2		NaN																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(4540-4542)GGA>AGA		calcium channel, voltage-dependent, L type,	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						88.0	75.0	80.0					1																	201016656		2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201016656C>T	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.4540G>A	1.37:g.201016656C>T	ENSP00000355192:p.Gly1514Arg						p.G1514R	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			37	4767	-			1514			Cytoplasmic (Potential).		A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.4540G>A	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	.	21.4	4.145328	0.77888	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	T;T	0.11277	2.79;2.79	4.94	4.94	0.65067	.	0.364680	0.23345	N	0.049194	T	0.30665	0.0772	L	0.55743	1.74	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.01814	-1.1268	10	0.87932	D	0	.	18.0906	0.89474	0.0:1.0:0.0:0.0	.	1514	Q13698	CAC1S_HUMAN	R	1514;1495	ENSP00000355192:G1514R;ENSP00000356307:G1495R	ENSP00000355192:G1514R	G	-	1	0	CACNA1S	199283279	1.000000	0.71417	0.998000	0.56505	0.561000	0.35649	7.531000	0.81973	2.459000	0.83118	0.561000	0.74099	GGA		0.547	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1		NM_000069		18	46	0	0	0	0.007413	0	18	46		
LMOD1	25802	broad.mit.edu	37	1	201868633	201868633	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:201868633G>A	ENST00000367288.4	-	2	1754	c.1508C>T	c.(1507-1509)gCc>gTc	p.A503V	RP11-307B6.3_ENST00000458139.1_RNA|RP11-307B6.3_ENST00000414927.1_RNA	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	503					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CTTAGCCACGGCCCCGGCCTT	0.582																																						uc001gxb.2		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1507-1509)GCC>GTC		leiomodin 1 (smooth muscle)							47.0	50.0	49.0					1																	201868633		1958	4134	6092	SO:0001583	missense	25802				muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding	g.chr1:201868633G>A	X54162	CCDS53457.1	1q32.1	2008-05-22			ENSG00000163431	ENSG00000163431			6647	protein-coding gene	gene with protein product		602715					Standard	NM_012134		Approved	64kD, D1, 1D	uc021phl.1	P29536	OTTHUMG00000035802	ENST00000367288.4:c.1508C>T	1.37:g.201868633G>A	ENSP00000356257:p.Ala503Val					LMOD1_uc010ppu.1_Missense_Mutation_p.A452V	p.A503V	NM_012134	NP_036266	P29536	LMOD1_HUMAN			2	1756	-			503					B1APV6|C4AMB1|Q68EN2	Missense_Mutation	SNP	ENST00000367288.4	37	c.1508C>T	CCDS53457.1	.	.	.	.	.	.	.	.	.	.	G	6.579	0.475137	0.12521	.	.	ENSG00000163431	ENST00000367288;ENST00000400965;ENST00000412469	T	0.23348	1.91	4.52	1.34	0.21922	.	0.591551	0.14085	N	0.342456	T	0.12178	0.0296	N	0.16790	0.44	0.09310	N	1	P;P	0.36222	0.544;0.544	B;B	0.33339	0.116;0.162	T	0.19484	-1.0304	10	0.25751	T	0.34	-5.1925	5.7796	0.18299	0.191:0.1611:0.6479:0.0	.	452;503	B4E3S9;P29536	.;LMOD1_HUMAN	V	503;503;452	ENSP00000356257:A503V	ENSP00000356257:A503V	A	-	2	0	LMOD1	200135256	0.033000	0.19621	0.023000	0.16930	0.117000	0.20001	2.175000	0.42491	0.435000	0.26365	-0.136000	0.14681	GCC		0.582	LMOD1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087085.2				23	30	0	0	0	0.005443	0	23	30		
RCOR3	55758	broad.mit.edu	37	1	211462527	211462527	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:211462527C>T	ENST00000367005.4	+	7	695	c.554C>T	c.(553-555)aCt>aTt	p.T185I	RCOR3_ENST00000367006.4_Missense_Mutation_p.T243I|RCOR3_ENST00000452621.2_Missense_Mutation_p.T243I|RCOR3_ENST00000419091.2_Missense_Mutation_p.T243I	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	185					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		TAGGGTAATACTGAACAACCT	0.378																																						uc001hig.2		NaN																	0				ovary(1)	1						c.(553-555)ACT>ATT		REST corepressor 3 isoform d							105.0	97.0	100.0					1																	211462527		2203	4300	6503	SO:0001583	missense	55758				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr1:211462527C>T	AK001738	CCDS31016.1, CCDS44312.1, CCDS44313.1, CCDS44314.1	1q32.3	2008-02-05			ENSG00000117625	ENSG00000117625			25594	protein-coding gene	gene with protein product						10718198	Standard	NM_018254		Approved	FLJ10876	uc010psw.2	Q9P2K3	OTTHUMG00000036996	ENST00000367005.4:c.554C>T	1.37:g.211462527C>T	ENSP00000355972:p.Thr185Ile					RCOR3_uc010psv.1_RNA|RCOR3_uc001hie.2_Missense_Mutation_p.T243I|RCOR3_uc010psw.1_Missense_Mutation_p.T243I|RCOR3_uc001hif.2_Missense_Mutation_p.T243I	p.T185I	NM_018254	NP_060724	Q9P2K3	RCOR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)	7	723	+			185					B3KYA2|B4DYY7|Q5VT47|Q7L9I5|Q8N5U3|Q9NV83	Missense_Mutation	SNP	ENST00000367005.4	37	c.554C>T	CCDS31016.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.988907	0.35131	.	.	ENSG00000117625	ENST00000367006;ENST00000452621;ENST00000419091;ENST00000367005;ENST00000529763	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.62	5.62	0.85841	.	0.853808	0.10722	N	0.641668	T	0.23688	0.0573	N	0.08118	0	0.33546	D	0.595537	B;B;B;B	0.27416	0.178;0.003;0.006;0.038	B;B;B;B	0.25614	0.022;0.006;0.006;0.062	T	0.23154	-1.0196	10	0.38643	T	0.18	-0.803	7.7877	0.29101	0.2056:0.7133:0.0:0.0812	.	243;185;243;243	Q9P2K3-3;Q9P2K3;Q9P2K3-2;Q9P2K3-4	.;RCOR3_HUMAN;.;.	I	243;243;243;185;3	ENSP00000355973:T243I;ENSP00000398558:T243I;ENSP00000413929:T243I;ENSP00000355972:T185I	ENSP00000355972:T185I	T	+	2	0	RCOR3	209529150	0.954000	0.32549	0.981000	0.43875	0.990000	0.78478	2.852000	0.48310	2.639000	0.89480	0.655000	0.94253	ACT		0.378	RCOR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089821.1		NM_018254		47	71	0	0	0	0.013114	0	47	71		
LPGAT1	9926	broad.mit.edu	37	1	212002548	212002548	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:212002548C>A	ENST00000366997.4	-	2	317	c.91G>T	c.(91-93)Gtt>Ttt	p.V31F	RP11-552D8.1_ENST00000457272.1_RNA|LPGAT1_ENST00000488600.1_5'UTR|RP11-552D8.1_ENST00000446560.1_RNA|RP11-552D8.1_ENST00000429499.1_RNA|LPGAT1_ENST00000366996.1_Missense_Mutation_p.V31F|RP11-552D8.1_ENST00000430623.1_RNA	NM_014873.2	NP_055688.1	Q92604	LGAT1_HUMAN	lysophosphatidylglycerol acyltransferase 1	31					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring acyl groups (GO:0016746)			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114)		GGAATAGCAACCAGGTTGTTG	0.463																																						uc001hiu.2		NaN																	0				ovary(1)|skin(1)	2						c.(91-93)GTT>TTT		lysophosphatidylglycerol acyltransferase 1							144.0	140.0	141.0					1																	212002548		2203	4300	6503	SO:0001583	missense	9926				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	g.chr1:212002548C>A	D86960	CCDS31018.1	1q32.3	2008-05-14	2004-11-25	2004-11-26	ENSG00000123684	ENSG00000123684			28985	protein-coding gene	gene with protein product		610473	"""family with sequence similarity 34, member A"""	FAM34A		9039502, 15485873	Standard	NM_014873		Approved	KIAA0205, FAM34A1, NET8	uc001hiv.3	Q92604	OTTHUMG00000037120	ENST00000366997.4:c.91G>T	1.37:g.212002548C>A	ENSP00000355964:p.Val31Phe					LPGAT1_uc001hiv.2_Missense_Mutation_p.V31F	p.V31F	NM_014873	NP_055688	Q92604	LGAT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114)	2	904	-			31			Helical; (Potential).		Q53YL2	Missense_Mutation	SNP	ENST00000366997.4	37	c.91G>T	CCDS31018.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.973812	0.74246	.	.	ENSG00000123684	ENST00000366997;ENST00000366996	D;D	0.93763	-3.28;-3.28	5.06	4.13	0.48395	.	0.116377	0.56097	D	0.000021	D	0.90830	0.7120	M	0.63428	1.95	0.80722	D	1	B	0.28713	0.22	B	0.27500	0.08	D	0.87113	0.2186	10	0.17832	T	0.49	-9.1181	14.488	0.67631	0.1561:0.8439:0.0:0.0	.	31	Q92604	LGAT1_HUMAN	F	31	ENSP00000355964:V31F;ENSP00000355963:V31F	ENSP00000355963:V31F	V	-	1	0	LPGAT1	210069171	1.000000	0.71417	0.987000	0.45799	0.994000	0.84299	5.892000	0.69790	1.087000	0.41251	0.557000	0.71058	GTT		0.463	LPGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090150.1		NM_014873		108	141	1	0	2.66069e-56	0.01441	3.77668e-56	108	141		
RPS6KC1	26750	broad.mit.edu	37	1	213224846	213224846	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:213224846G>T	ENST00000366960.3	+	1	250	c.100G>T	c.(100-102)Gcc>Tcc	p.A34S	RPS6KC1_ENST00000543354.1_5'UTR|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.A34S|RPS6KC1_ENST00000543470.1_5'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	34	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TAAGGTCACCGCCCGGGTGAG	0.627																																						uc010ptr.1		NaN																	0				lung(4)|ovary(3)|breast(1)	8						c.(100-102)GCC>TCC		ribosomal protein S6 kinase, 52kDa, polypeptide							18.0	17.0	17.0					1																	213224846		2202	4298	6500	SO:0001583	missense	26750				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	g.chr1:213224846G>T	AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.100G>T	1.37:g.213224846G>T	ENSP00000355927:p.Ala34Ser					RPS6KC1_uc001hkd.2_Missense_Mutation_p.A34S|RPS6KC1_uc010pts.1_5'UTR|RPS6KC1_uc010ptt.1_5'UTR|RPS6KC1_uc010ptu.1_5'UTR|RPS6KC1_uc010ptv.1_5'UTR|RPS6KC1_uc009xdh.2_RNA	p.A34S	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)	1	259	+			34			PX.		B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	ENST00000366960.3	37	c.100G>T	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878861	0.91740	.	.	ENSG00000136643	ENST00000366960;ENST00000366959	T;T	0.39229	1.09;1.29	5.72	5.72	0.89469	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.45895	0.1365	N	0.12746	0.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.36792	-0.9733	10	0.19590	T	0.45	-10.7805	16.8053	0.85625	0.0:0.0:1.0:0.0	.	34;34	Q96S38;B1APS8	KS6C1_HUMAN;.	S	34	ENSP00000355927:A34S;ENSP00000355926:A34S	ENSP00000355926:A34S	A	+	1	0	RPS6KC1	211291469	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.150000	0.71801	2.700000	0.92200	0.563000	0.77884	GCC		0.627	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3		NM_012424		12	24	1	0	0.00136819	0.013537	0.0013882	12	24		
MAP10	54627	broad.mit.edu	37	1	232942439	232942439	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:232942439G>T	ENST00000418460.1	+	1	1797	c.1670G>T	c.(1669-1671)aGt>aTt	p.S557I		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	415					cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)										CCTGTGACAAGTCCTGCTCAT	0.413																																						uc001hvh.2		NaN																	0				ovary(1)	1						c.(1669-1671)AGT>ATT		hypothetical protein LOC54627							86.0	81.0	82.0					1																	232942439		1928	4153	6081	SO:0001583	missense	54627							g.chr1:232942439G>T	AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"""microtubule regulator 120 KDa"""		"""KIAA1383"""	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.1670G>T	1.37:g.232942439G>T	ENSP00000403208:p.Ser557Ile						p.S557I	NM_019090	NP_061963	Q9P2G4	K1383_HUMAN			1	1802	+		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)	415					A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Missense_Mutation	SNP	ENST00000418460.1	37	c.1670G>T	CCDS44334.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.759929	0.49468	.	.	ENSG00000212916	ENST00000418460	.	.	.	6.17	0.638	0.17742	.	0.646123	0.13495	U	0.383683	T	0.51466	0.1676	L	0.60455	1.87	0.09310	N	1	D	0.59357	0.985	P	0.58391	0.838	T	0.41805	-0.9488	9	0.66056	D	0.02	-1.7383	9.3359	0.38049	0.2774:0.1311:0.5915:0.0	.	415	Q9P2G4	K1383_HUMAN	I	557	.	ENSP00000403208:S557I	S	+	2	0	KIAA1383	231009062	0.000000	0.05858	0.708000	0.30435	0.882000	0.50991	0.066000	0.14489	0.173000	0.19788	0.655000	0.94253	AGT		0.413	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092317.3		NM_019090		21	62	1	0	3.62473e-10	0.012319	3.94456e-10	21	62		
GNG4	2786	broad.mit.edu	37	1	235747123	235747123	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:235747123A>G	ENST00000366598.4	-	2	231	c.16T>C	c.(16-18)Tct>Cct	p.S6P	GNG4_ENST00000391854.2_Missense_Mutation_p.S6P|GNG4_ENST00000484517.1_5'UTR|GNG4_ENST00000366597.1_Missense_Mutation_p.S6P|GNG4_ENST00000450593.1_Missense_Mutation_p.S6P			P50150	GBG4_HUMAN	guanine nucleotide binding protein (G protein), gamma 4	6					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of cell growth (GO:0030308)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00168)|Prostate(94;0.0776)|Acute lymphoblastic leukemia(190;0.23)	OV - Ovarian serous cystadenocarcinoma(106;0.000882)			CTGTTATTAGACATGCCCTCT	0.507																																						uc001hxe.3		NaN																	0					0						c.(16-18)TCT>CCT		guanine nucleotide binding protein (G protein),							184.0	171.0	175.0					1																	235747123		2203	4300	6503	SO:0001583	missense	2786				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|negative regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity	g.chr1:235747123A>G	BC022485	CCDS1607.1	1q42.3	2008-02-05			ENSG00000168243	ENSG00000168243			4407	protein-coding gene	gene with protein product		604388				7665596	Standard	NM_001098721		Approved		uc001hxh.4	P50150	OTTHUMG00000040740	ENST00000366598.4:c.16T>C	1.37:g.235747123A>G	ENSP00000355557:p.Ser6Pro					GNG4_uc009xfz.2_Missense_Mutation_p.S6P|GNG4_uc001hxh.3_Missense_Mutation_p.S6P	p.S6P	NM_001098722	NP_001092192	P50150	GBG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000882)		3	470	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00168)|Prostate(94;0.0776)|Acute lymphoblastic leukemia(190;0.23)	6						Missense_Mutation	SNP	ENST00000366598.4	37	c.16T>C	CCDS1607.1	.	.	.	.	.	.	.	.	.	.	A	11.63	1.696732	0.30142	.	.	ENSG00000168243	ENST00000450593;ENST00000391854;ENST00000366598;ENST00000366597	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	5.52	4.37	0.52481	G-protein gamma domain (2);	0.435447	0.22048	N	0.065342	T	0.33585	0.0868	.	.	.	0.36371	D	0.861287	B	0.02656	0.0	B	0.04013	0.001	T	0.24261	-1.0165	9	0.22706	T	0.39	-4.7941	10.4315	0.44411	0.8358:0.1642:0.0:0.0	.	6	P50150	GBG4_HUMAN	P	6	ENSP00000398629:S6P;ENSP00000375727:S6P;ENSP00000355557:S6P;ENSP00000355556:S6P	ENSP00000355556:S6P	S	-	1	0	GNG4	233813746	1.000000	0.71417	0.984000	0.44739	0.884000	0.51177	2.333000	0.43912	0.887000	0.36136	0.533000	0.62120	TCT		0.507	GNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097906.1		NM_004485		70	156	0	0	0	0.01441	0	70	156		
ACTN2	88	broad.mit.edu	37	1	236925893	236925893	+	Missense_Mutation	SNP	G	G	A	rs148972050		TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:236925893G>A	ENST00000366578.4	+	21	2825	c.2659G>A	c.(2659-2661)Gca>Aca	p.A887T	ACTN2_ENST00000542672.1_Missense_Mutation_p.A887T|ACTN2_ENST00000546208.1_Missense_Mutation_p.A381T	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	887					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GTTCTCTTCCGCACTCTACGG	0.552																																						uc001hyf.2		NaN																	0				ovary(4)|skin(1)	5						c.(2659-2661)GCA>ACA		actinin, alpha 2		G	THR/ALA	0,4406		0,0,2203	58.0	48.0	51.0		2659	5.4	0.3	1	dbSNP_134	51	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ACTN2	NM_001103.2	58	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	887/895	236925893	2,13004	2203	4300	6503	SO:0001583	missense	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236925893G>A	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.2659G>A	1.37:g.236925893G>A	ENSP00000355537:p.Ala887Thr					ACTN2_uc001hyg.2_Missense_Mutation_p.A679T|ACTN2_uc009xgi.1_Missense_Mutation_p.A887T|ACTN2_uc010pxu.1_Missense_Mutation_p.A576T|ACTN2_uc001hyh.2_Missense_Mutation_p.A575T	p.A887T	NM_001103	NP_001094	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		21	2863	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	887					B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	c.2659G>A	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225853	0.79576	0.0	2.33E-4	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000546208;ENST00000545611	T;T;T	0.45276	0.9;0.9;0.9	5.43	5.43	0.79202	EF-hand, Ca insensitive (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.62183	0.2407	L	0.53617	1.68	0.80722	D	1	D;B;D;D	0.76494	0.999;0.158;0.999;0.997	D;B;D;D	0.87578	0.998;0.05;0.998;0.982	T	0.58907	-0.7553	10	0.45353	T	0.12	.	19.6166	0.95636	0.0:0.0:1.0:0.0	.	672;887;657;887	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	T	887;887;381;656	ENSP00000443495:A887T;ENSP00000355537:A887T;ENSP00000438384:A381T	ENSP00000355537:A887T	A	+	1	0	ACTN2	234992516	1.000000	0.71417	0.306000	0.25113	0.144000	0.21451	9.680000	0.98651	2.721000	0.93114	0.655000	0.94253	GCA		0.552	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1		NM_001103		8	92	0	0	0	0.00308	0	8	92		
RYR2	6262	broad.mit.edu	37	1	237753123	237753123	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:237753123C>A	ENST00000366574.2	+	30	3946	c.3629C>A	c.(3628-3630)gCt>gAt	p.A1210D	RYR2_ENST00000360064.6_Missense_Mutation_p.A1208D|RYR2_ENST00000542537.1_Missense_Mutation_p.A1194D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1210	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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)			CTTGGAGTGGCTCAAGTGGGT	0.383																																						uc001hyl.1		NaN																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(3628-3630)GCT>GAT		cardiac muscle ryanodine receptor							86.0	82.0	83.0					1																	237753123		1886	4123	6009	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237753123C>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.3629C>A	1.37:g.237753123C>A	ENSP00000355533:p.Ala1210Asp						p.A1210D	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		30	3749	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1210			Cytoplasmic (By similarity).|4 X approximate repeats.|B30.2/SPRY 2.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.3629C>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	c	14.27	2.485188	0.44147	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.68765	-0.35;-0.35;-0.35	5.49	3.55	0.40652	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.213562	0.30704	N	0.009057	T	0.56688	0.2002	N	0.26130	0.795	0.80722	D	1	B	0.18610	0.029	B	0.24701	0.055	T	0.53258	-0.8464	10	0.59425	D	0.04	.	15.7078	0.77598	0.0:0.7405:0.2595:0.0	.	1210	Q92736	RYR2_HUMAN	D	1210;1208;1194	ENSP00000355533:A1210D;ENSP00000353174:A1208D;ENSP00000443798:A1194D	ENSP00000353174:A1208D	A	+	2	0	RYR2	235819746	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.482000	0.45224	0.619000	0.30197	0.650000	0.86243	GCT		0.383	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2		NM_001035		23	39	1	0	1.64293e-13	0.01892	1.8685e-13	23	39		
FMN2	56776	broad.mit.edu	37	1	240374392	240374392	+	Splice_Site	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:240374392G>C	ENST00000319653.9	+	6	4152	c.3922G>C	c.(3922-3924)Gac>Cac	p.D1308H		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1308	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TAATTTTAGAGACTCCAGTAC	0.363																																						uc010pyd.1		NaN																	0				ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(3922-3924)GAC>CAC		formin 2							83.0	84.0	84.0					1																	240374392		2203	4299	6502	SO:0001630	splice_region_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240374392G>C	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3921-1G>C	1.37:g.240374392G>C						FMN2_uc010pye.1_Missense_Mutation_p.D1312H	p.D1308H	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		6	4147	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1308			FH2.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.3922G>C	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	13.61	2.289475	0.40494	.	.	ENSG00000155816	ENST00000319653	T	0.18657	2.2	4.49	4.49	0.54785	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.64402	D	0.000009	T	0.36552	0.0971	M	0.77486	2.375	0.80722	D	1	P	0.38551	0.636	P	0.44477	0.451	T	0.42632	-0.9440	10	0.87932	D	0	.	17.1987	0.86900	0.0:0.0:1.0:0.0	.	1308	Q9NZ56	FMN2_HUMAN	H	1308	ENSP00000318884:D1308H	ENSP00000318884:D1308H	D	+	1	0	FMN2	238441015	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.194000	0.65125	2.051000	0.60960	0.655000	0.94253	GAC		0.363	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2		XM_371352	Missense_Mutation	45	37	0	0	0	0.013114	0	45	37		
OR2C3	81472	broad.mit.edu	37	1	247695441	247695441	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:247695441C>T	ENST00000366487.3	-	2	734	c.373G>A	c.(373-375)Gct>Act	p.A125T	GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527084.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	125						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)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CAGATGGCAGCGTAGCGGTCA	0.562																																						uc009xgy.2		NaN																	0				ovary(1)|skin(1)	2						c.(373-375)GCT>ACT		olfactory receptor, family 2, subfamily C,							73.0	74.0	74.0					1																	247695441		2203	4300	6503	SO:0001583	missense	81472				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247695441C>T	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"""GPCR / Class A : Olfactory receptors"""	15005	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily C, member 4"""	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.373G>A	1.37:g.247695441C>T	ENSP00000355443:p.Ala125Thr					C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank	p.A125T	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		2	735	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	125			Cytoplasmic (Potential).		Q5JQS4|Q6IEZ1|Q8NGW7	Missense_Mutation	SNP	ENST00000366487.3	37	c.373G>A	CCDS1634.2	.	.	.	.	.	.	.	.	.	.	C	13.94	2.387907	0.42308	.	.	ENSG00000196242	ENST00000366487	T	0.01854	4.6	3.89	3.89	0.44902	GPCR, rhodopsin-like superfamily (1);	0.238056	0.21479	U	0.073861	T	0.02418	0.0074	L	0.52206	1.635	0.22819	N	0.998698	P	0.43352	0.804	B	0.28553	0.091	T	0.49283	-0.8956	10	0.41790	T	0.15	.	13.7858	0.63108	0.0:1.0:0.0:0.0	.	125	Q8N628	OR2C3_HUMAN	T	125	ENSP00000355443:A125T	ENSP00000355443:A125T	A	-	1	0	OR2C3	245762064	0.000000	0.05858	0.849000	0.33467	0.960000	0.62799	0.010000	0.13242	2.156000	0.67533	0.650000	0.86243	GCT		0.562	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2		NM_198074		25	63	0	0	0	0.004656	0	25	63		
ACBD7	414149	broad.mit.edu	37	10	15120593	15120593	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr10:15120593G>A	ENST00000356189.5	-	4	250	c.203C>T	c.(202-204)aCg>aTg	p.T68M	ACBD7_ENST00000496890.1_5'UTR	NM_001039844.2	NP_001034933.1	Q8N6N7	ACBD7_HUMAN	acyl-CoA binding domain containing 7	68	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.						fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			endometrium(1)|lung(4)|prostate(1)	6						CGCATCTTCCGTCGACAACCC	0.363																																						uc001inv.2		NaN																	0					0						c.(202-204)ACG>ATG		acyl-Coenzyme A binding domain containing 7							141.0	141.0	141.0					10																	15120593		2203	4300	6503	SO:0001583	missense	414149						fatty-acyl-CoA binding	g.chr10:15120593G>A	AK095538	CCDS31153.1	10p13	2010-08-05	2010-04-30		ENSG00000176244	ENSG00000176244			17715	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 7"""				Standard	NM_001039844		Approved	FLJ38219, bA455B2.2	uc010qby.1	Q8N6N7	OTTHUMG00000017725	ENST00000356189.5:c.203C>T	10.37:g.15120593G>A	ENSP00000367453:p.Thr68Met					ACBD7_uc010qby.1_Intron	p.T68M	NM_001039844	NP_001034933	Q8N6N7	ACBD7_HUMAN			4	251	-			68			ACB.		A6NCI2|B3KTG8	Missense_Mutation	SNP	ENST00000356189.5	37	c.203C>T	CCDS31153.1	.	.	.	.	.	.	.	.	.	.	g	17.34	3.365135	0.61513	.	.	ENSG00000176244	ENST00000356189	T	0.22945	1.93	4.9	3.77	0.43336	FERM/acyl-CoA-binding protein, 3-helical bundle (1);Acyl-CoA-binding protein, ACBP (4);	0.267117	0.35585	N	0.003101	T	0.31513	0.0799	.	.	.	0.35999	D	0.837222	P	0.48350	0.909	P	0.47645	0.553	T	0.42137	-0.9469	9	0.62326	D	0.03	-14.4094	10.5277	0.44958	0.0:0.0:0.1709:0.8291	.	68	Q8N6N7	ACBD7_HUMAN	M	68	ENSP00000367453:T68M	ENSP00000367453:T68M	T	-	2	0	ACBD7	15160599	1.000000	0.71417	0.914000	0.36105	0.982000	0.71751	3.651000	0.54431	0.908000	0.36671	-0.410000	0.06199	ACG		0.363	ACBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046972.2				14	48	0	0	0	0.004007	0	14	48		
CUBN	8029	broad.mit.edu	37	10	16883004	16883004	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr10:16883004A>G	ENST00000377833.4	-	61	9771	c.9706T>C	c.(9706-9708)Ttt>Ctt	p.F3236L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3236	CUB 24. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAACCACAAAACGTTCCAGCC	0.368																																						uc001ioo.2		NaN																	0				ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(9706-9708)TTT>CTT		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						101.0	91.0	94.0					10																	16883004		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16883004A>G	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.9706T>C	10.37:g.16883004A>G	ENSP00000367064:p.Phe3236Leu						p.F3236L	NM_001081	NP_001072	O60494	CUBN_HUMAN			61	9758	-			3236			CUB 24.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.9706T>C	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	A	15.08	2.726783	0.48833	.	.	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.19394	2.15	4.49	4.49	0.54785	CUB (5);	0.000000	0.38272	N	0.001753	T	0.34193	0.0889	L	0.35854	1.095	0.80722	D	1	D	0.76494	0.999	D	0.66196	0.942	T	0.10776	-1.0615	10	0.72032	D	0.01	.	13.7992	0.63190	1.0:0.0:0.0:0.0	.	3236	O60494	CUBN_HUMAN	L	3236;77	ENSP00000367064:F3236L	ENSP00000367064:F3236L	F	-	1	0	CUBN	16923010	1.000000	0.71417	0.023000	0.16930	0.045000	0.14185	8.681000	0.91228	1.674000	0.50907	0.533000	0.62120	TTT		0.368	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1		NM_001081		20	21	0	0	0	0.007413	0	20	21		
VIM	7431	broad.mit.edu	37	10	17277194	17277194	+	Silent	SNP	T	T	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr10:17277194T>C	ENST00000224237.5	+	6	1180	c.1035T>C	c.(1033-1035)cgT>cgC	p.R345R	RP11-124N14.3_ENST00000456355.1_RNA|VIM_ENST00000544301.1_Silent_p.R345R			P08670	VIME_HUMAN	vimentin	345	Coil 2.|Rod.				apoptotic process (GO:0006915)|astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular component movement (GO:0006928)|intermediate filament organization (GO:0045109)|lens fiber cell development (GO:0070307)|muscle filament sliding (GO:0030049)|negative regulation of neuron projection development (GO:0010977)|positive regulation of gene expression (GO:0010628)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|neuron projection (GO:0043005)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	double-stranded RNA binding (GO:0003725)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCCAGATGCGTGAAATGGAAG	0.483																																						uc001iou.2		NaN																	0				large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(1033-1035)CGT>CGC		vimentin							104.0	91.0	95.0					10																	17277194		2203	4300	6503	SO:0001819	synonymous_variant	7431				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton	g.chr10:17277194T>C	M14144	CCDS7120.1	10p13	2013-01-16			ENSG00000026025	ENSG00000026025		"""Intermediate filaments type III"""	12692	protein-coding gene	gene with protein product		193060					Standard	NM_003380		Approved		uc001iou.2	P08670	OTTHUMG00000017744	ENST00000224237.5:c.1035T>C	10.37:g.17277194T>C						VIM_uc001iov.1_Silent_p.R345R|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Silent_p.R345R|VIM_uc001ioy.1_Intron|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Silent_p.R303R|VIM_uc001ipc.1_Silent_p.R345R	p.R345R	NM_003380	NP_003371	P08670	VIME_HUMAN			7	1448	+			345			Rod.|Coil 2.		B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	Silent	SNP	ENST00000224237.5	37	c.1035T>C	CCDS7120.1																																																																																				0.483	VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047015.1		NM_003380		17	43	0	0	0	0.006122	0	17	43		
KIAA1217	56243	broad.mit.edu	37	10	24669846	24669846	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr10:24669846G>C	ENST00000376454.3	+	3	433	c.403G>C	c.(403-405)Gac>Cac	p.D135H	KIAA1217_ENST00000376452.3_Missense_Mutation_p.D135H|KIAA1217_ENST00000430453.2_Missense_Mutation_p.D56H|KIAA1217_ENST00000376462.1_Missense_Mutation_p.D55H|KIAA1217_ENST00000458595.1_Missense_Mutation_p.D135H	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	135					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CAGTCTGGGTGACCCGGTCGA	0.502																																						uc001iru.3		NaN																	0				ovary(5)|skin(2)	7						c.(403-405)GAC>CAC		sickle tail isoform 1							71.0	75.0	74.0					10																	24669846		2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24669846G>C	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.403G>C	10.37:g.24669846G>C	ENSP00000365637:p.Asp135His					KIAA1217_uc001irs.2_Missense_Mutation_p.D55H|KIAA1217_uc001irt.3_Missense_Mutation_p.D135H|KIAA1217_uc010qcy.1_Missense_Mutation_p.D135H|KIAA1217_uc010qcz.1_Missense_Mutation_p.D135H|KIAA1217_uc001irv.1_5'UTR|KIAA1217_uc010qda.1_RNA	p.D135H	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN			3	806	+			135					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.403G>C	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.354193	0.82243	.	.	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000376454;ENST00000376452;ENST00000430453	T;D;T;T;T;T	0.94966	1.26;-3.57;1.23;1.62;1.22;0.5	5.54	5.54	0.83059	.	0.143965	0.64402	D	0.000009	D	0.97195	0.9083	M	0.74881	2.28	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.91635	0.999;0.994;0.99;0.958	D	0.97546	1.0089	10	0.87932	D	0	.	19.4705	0.94961	0.0:0.0:1.0:0.0	.	135;135;135;135	Q5T5P2-7;A6NLF3;Q5T5P2;Q5T5P2-2	.;.;SKT_HUMAN;.	H	55;135;135;135;135;56	ENSP00000365645:D55H;ENSP00000365639:D135H;ENSP00000392625:D135H;ENSP00000365637:D135H;ENSP00000365635:D135H;ENSP00000389680:D56H	ENSP00000365635:D135H	D	+	1	0	KIAA1217	24709852	1.000000	0.71417	0.347000	0.25668	0.787000	0.44495	9.452000	0.97615	2.616000	0.88540	0.591000	0.81541	GAC		0.502	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2		NM_019590		13	46	0	0	0	0.016723	0	13	46		
ARHGAP21	57584	broad.mit.edu	37	10	24910248	24910248	+	Missense_Mutation	SNP	A	A	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr10:24910248A>C	ENST00000396432.2	-	9	1062	c.576T>G	c.(574-576)aaT>aaG	p.N192K	ARHGAP21_ENST00000320481.6_5'UTR	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	191					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TATTGCGGGCATTGCCGCTAT	0.463																																						uc001isb.2		NaN																	0				ovary(7)|pancreas(1)	8						c.(574-576)AAT>AAG		Rho GTPase activating protein 21							28.0	27.0	27.0					10																	24910248		2203	4297	6500	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24910248A>C	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.576T>G	10.37:g.24910248A>C	ENSP00000379709:p.Asn192Lys					ARHGAP21_uc010qdb.1_RNA|ARHGAP21_uc009xkl.1_Missense_Mutation_p.N192K|ARHGAP21_uc010qdc.1_Missense_Mutation_p.N27K|ARHGAP21_uc001isc.1_Missense_Mutation_p.N182K	p.N192K	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN			9	1063	-			191					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.576T>G	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	A	17.33	3.362640	0.61403	.	.	ENSG00000107863	ENST00000396432;ENST00000447364;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T	0.49720	2.73;0.8;0.77	5.47	1.7	0.24286	.	0.000000	0.85682	D	0.000000	T	0.53142	0.1778	M	0.64404	1.975	0.80722	D	1	P;P	0.45634	0.843;0.863	P;P	0.56700	0.75;0.804	T	0.43310	-0.9399	10	0.30078	T	0.28	.	6.3637	0.21443	0.7502:0.0:0.1319:0.1179	.	182;191	F8W9U9;Q5T5U3	.;RHG21_HUMAN	K	192;181;182;192;27	ENSP00000379709:N192K;ENSP00000365592:N182K;ENSP00000405018:N192K	ENSP00000365592:N182K	N	-	3	2	ARHGAP21	24950254	1.000000	0.71417	0.984000	0.44739	0.955000	0.61496	4.138000	0.58017	0.096000	0.17463	0.528000	0.53228	AAT		0.463	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4		NM_020824		6	7	0	0	0	0.001168	0	6	7		
SVIL	6840	broad.mit.edu	37	10	29760165	29760165	+	Missense_Mutation	SNP	A	A	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr10:29760165A>T	ENST00000355867.4	-	31	6289	c.5537T>A	c.(5536-5538)gTt>gAt	p.V1846D	PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.V760D|SVIL_ENST00000375398.2_Missense_Mutation_p.V1846D|SVIL_ENST00000460007.1_5'Flank|SVIL_ENST00000375400.3_Missense_Mutation_p.V1420D|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000446807.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1846					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TCCCTGGAGAACCTGGACCTT	0.498																																						uc001iut.1		NaN																	0				ovary(5)|upper_aerodigestive_tract(1)	6						c.(5536-5538)GTT>GAT		supervillin isoform 2							52.0	45.0	48.0					10																	29760165		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29760165A>T	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.5537T>A	10.37:g.29760165A>T	ENSP00000348128:p.Val1846Asp					LOC387647_uc001iup.2_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Missense_Mutation_p.V760D|SVIL_uc001iuu.1_Missense_Mutation_p.V1420D	p.V1846D	NM_021738	NP_068506	O95425	SVIL_HUMAN			31	6290	-		Breast(68;0.103)	1846			Gelsolin-like 3.		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.5537T>A	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	A	32	5.114180	0.94339	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393	T;T;T;T	0.57907	0.37;0.39;0.39;0.37	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.80824	0.4697	H	0.94423	3.535	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.87578	0.998;0.991;0.997	D	0.86221	0.1631	10	0.87932	D	0	-17.446	16.5582	0.84512	1.0:0.0:0.0:0.0	.	760;1420;1846	F5H2Q5;O95425-2;O95425	.;.;SVIL_HUMAN	D	1420;1846;1846;760	ENSP00000364549:V1420D;ENSP00000364547:V1846D;ENSP00000348128:V1846D;ENSP00000445472:V760D	ENSP00000348128:V1846D	V	-	2	0	SVIL	29800171	1.000000	0.71417	0.976000	0.42696	0.953000	0.61014	9.174000	0.94824	2.308000	0.77769	0.533000	0.62120	GTT		0.498	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1				12	10	0	0	0	0.013537	0	12	10		
ZNF485	220992	broad.mit.edu	37	10	44111919	44111919	+	Missense_Mutation	SNP	C	C	T	rs138982373		TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr10:44111919C>T	ENST00000361807.3	+	5	622	c.428C>T	c.(427-429)tCg>tTg	p.S143L	ZNF485_ENST00000374437.2_Missense_Mutation_p.S52L|ZNF485_ENST00000374435.3_Missense_Mutation_p.S143L	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	143					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(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						AAATACAATTCGTCCTTTATT	0.413																																						uc010qfc.1		NaN																	0					0						c.(427-429)TCG>TTG		zinc finger protein 485		C	LEU/SER	0,4406		0,0,2203	112.0	112.0	112.0		428	1.6	0.1	10	dbSNP_134	112	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF485	NM_145312.3	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	143/442	44111919	1,13005	2203	4300	6503	SO:0001583	missense	220992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:44111919C>T	AK074679	CCDS7205.2	10q11.21	2013-01-08			ENSG00000198298	ENSG00000198298		"""Zinc fingers, C2H2-type"", ""-"""	23440	protein-coding gene	gene with protein product							Standard	NM_145312		Approved		uc010qfc.2	Q8NCK3	OTTHUMG00000018040	ENST00000361807.3:c.428C>T	10.37:g.44111919C>T	ENSP00000354694:p.Ser143Leu					ZNF485_uc010qfd.1_Missense_Mutation_p.S52L	p.S143L	NM_145312	NP_660355	Q8NCK3	ZN485_HUMAN			5	622	+			143			C2H2-type 1.		B4DSE6|Q96CL0	Missense_Mutation	SNP	ENST00000361807.3	37	c.428C>T	CCDS7205.2	.	.	.	.	.	.	.	.	.	.	C	5.656	0.305597	0.10678	0.0	1.16E-4	ENSG00000198298	ENST00000361807;ENST00000374437;ENST00000374435	T;T;T	0.07444	3.19;3.19;3.19	2.54	1.59	0.23543	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11153	0.0272	M	0.82716	2.605	0.09310	N	1	P	0.46327	0.876	B	0.38954	0.286	T	0.25117	-1.0141	9	0.62326	D	0.03	.	3.7821	0.08684	0.0:0.591:0.2609:0.1481	.	143	Q8NCK3	ZN485_HUMAN	L	143;52;143	ENSP00000354694:S143L;ENSP00000363560:S52L;ENSP00000363558:S143L	ENSP00000354694:S143L	S	+	2	0	ZNF485	43431925	0.000000	0.05858	0.125000	0.21846	0.094000	0.18550	-0.432000	0.06956	0.597000	0.29811	0.462000	0.41574	TCG		0.413	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047719.2		NM_145312		15	53	0	0	0	0.00499	0	15	53		
NRBF2	29982	broad.mit.edu	37	10	64913495	64913495	+	Silent	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr10:64913495G>T	ENST00000277746.6	+	4	562	c.381G>T	c.(379-381)ctG>ctT	p.L127L	NRBF2_ENST00000435510.2_Silent_p.L117L	NM_030759.3	NP_110386.2	Q96F24	NRBF2_HUMAN	nuclear receptor binding factor 2	127					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)				large_intestine(2)|lung(3)|skin(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					AGAAATGCCTGCCTGAGATTC	0.507																																						uc001jmj.3		NaN																	0					0						c.(379-381)CTG>CTT		nuclear receptor binding factor 2							22.0	24.0	24.0					10																	64913495		2199	4279	6478	SO:0001819	synonymous_variant	29982				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	cytoplasm|nucleoplasm	protein binding	g.chr10:64913495G>T	D82519	CCDS7268.1, CCDS60537.1	10q22.1	2012-11-01			ENSG00000148572	ENSG00000148572			19692	protein-coding gene	gene with protein product	"""comodulator of PPAR and RXR 1"", ""comodulator of PPAR and RXR 2"""					10786636	Standard	NM_001282405		Approved	DKFZp564C1664, FLJ30395, COPR1, COPR2	uc001jmj.4	Q96F24	OTTHUMG00000018309	ENST00000277746.6:c.381G>T	10.37:g.64913495G>T						NRBF2_uc010qip.1_Silent_p.L117L	p.L127L	NM_030759	NP_110386	Q96F24	NRBF2_HUMAN			4	605	+	Prostate(12;0.0119)|all_hematologic(501;0.191)		127					A6PW36|B4DWS0|Q86UR2|Q96NP6|Q9H0S9|Q9H2I2	Silent	SNP	ENST00000277746.6	37	c.381G>T	CCDS7268.1																																																																																				0.507	NRBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048247.1		NM_030759		12	25	1	0	1.61879e-10	0.013537	1.76509e-10	12	25		
NODAL	4838	broad.mit.edu	37	10	72195635	72195635	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr10:72195635G>C	ENST00000287139.3	-	2	297	c.298C>G	c.(298-300)Cct>Gct	p.P100A	AC022532.1_ENST00000420338.2_3'UTR	NM_018055.4	NP_060525.3	Q96S42	NODAL_HUMAN	nodal growth differentiation factor	100					axial mesodermal cell fate specification (GO:0048327)|brain development (GO:0007420)|cell migration involved in gastrulation (GO:0042074)|digestive tract morphogenesis (GO:0048546)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic pattern specification (GO:0009880)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|endodermal cell differentiation (GO:0035987)|epiblast cell-extraembryonic ectoderm cell signaling involved in anterior/posterior axis specification (GO:0060802)|floor plate morphogenesis (GO:0033505)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|heart looping (GO:0001947)|inhibition of neuroepithelial cell differentiation (GO:0002085)|left lung morphogenesis (GO:0060460)|liver development (GO:0001889)|maternal placenta development (GO:0001893)|maternal process involved in parturition (GO:0060137)|mesendoderm development (GO:0048382)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of chorionic trophoblast cell proliferation (GO:1901383)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of trophoblast cell migration (GO:1901164)|neural fold formation (GO:0001842)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|placenta development (GO:0001890)|polarity specification of proximal/distal axis (GO:0010085)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gastrulation (GO:0010470)|regulation of stem cell maintenance (GO:2000036)|SMAD protein signal transduction (GO:0060395)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway involved in primitive streak formation (GO:0090010)|trophectodermal cellular morphogenesis (GO:0001831)|vasculature development (GO:0001944)	extracellular space (GO:0005615)	morphogen activity (GO:0016015)|type I activin receptor binding (GO:0070698)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	15						AGGTCCACAGGGCTGGACAGC	0.572																																						uc001jrc.2		NaN																	0				large_intestine(1)|kidney(1)	2						c.(298-300)CCT>GCT		nodal precursor							50.0	48.0	49.0					10																	72195635		2203	4300	6503	SO:0001583	missense	4838				growth	extracellular space	cytokine activity|growth factor activity	g.chr10:72195635G>C	BC033585	CCDS7304.1	10q22.1	2012-12-07	2012-12-07		ENSG00000156574	ENSG00000156574			7865	protein-coding gene	gene with protein product		601265	"""nodal, mouse, homolog"", ""nodal homolog (mouse)"""			9354794	Standard	NM_018055		Approved		uc001jrc.2	Q96S42	OTTHUMG00000018408	ENST00000287139.3:c.298C>G	10.37:g.72195635G>C	ENSP00000287139:p.Pro100Ala						p.P100A	NM_018055	NP_060525	Q96S42	NODAL_HUMAN			2	340	-			100					Q2M3A5|Q8N4V3	Missense_Mutation	SNP	ENST00000287139.3	37	c.298C>G	CCDS7304.1	.	.	.	.	.	.	.	.	.	.	G	0.812	-0.751561	0.03041	.	.	ENSG00000156574	ENST00000287139;ENST00000414871	T;T	0.63580	-0.05;-0.05	5.46	3.47	0.39725	Transforming growth factor-beta, N-terminal (1);	0.419637	0.22966	N	0.053496	T	0.46964	0.1420	M	0.62723	1.935	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.36915	-0.9728	10	0.05833	T	0.94	.	2.0494	0.03567	0.127:0.2204:0.4587:0.1939	.	100	Q96S42	NODAL_HUMAN	A	100;45	ENSP00000287139:P100A;ENSP00000394468:P45A	ENSP00000287139:P100A	P	-	1	0	NODAL	71865641	0.000000	0.05858	0.439000	0.26833	0.015000	0.08874	0.384000	0.20668	1.520000	0.48965	-0.211000	0.12701	CCT		0.572	NODAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048511.1		NM_018055		19	52	0	0	0	0.010504	0	19	52		
PALD1	27143	broad.mit.edu	37	10	72293777	72293777	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr10:72293777G>T	ENST00000263563.6	+	8	1238	c.970G>T	c.(970-972)Gtc>Ttc	p.V324F		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	324						cytosol (GO:0005829)											CCTGGGCATGGTCCTGGGCAC	0.701																																						uc001jrd.3		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(970-972)GTC>TTC		KIAA1274							35.0	31.0	32.0					10																	72293777		2203	4300	6503	SO:0001583	missense	27143							g.chr10:72293777G>T	AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"""paladin"", ""KIAA1274"""	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.970G>T	10.37:g.72293777G>T	ENSP00000263563:p.Val324Phe						p.V324F	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN			8	1251	+			324					B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Missense_Mutation	SNP	ENST00000263563.6	37	c.970G>T	CCDS31215.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.044059	0.75732	.	.	ENSG00000107719	ENST00000263563;ENST00000373214	T	0.37411	1.2	4.55	3.61	0.41365	.	0.323175	0.32836	N	0.005583	T	0.53997	0.1831	M	0.81802	2.56	0.37510	D	0.917119	P	0.48911	0.917	P	0.58721	0.844	T	0.62613	-0.6817	10	0.72032	D	0.01	-13.2762	8.8852	0.35398	0.186:0.0:0.814:0.0	.	324	Q9ULE6	PALD_HUMAN	F	324	ENSP00000263563:V324F	ENSP00000263563:V324F	V	+	1	0	KIAA1274	71963783	1.000000	0.71417	0.891000	0.34965	0.856000	0.48823	4.985000	0.63845	1.152000	0.42452	0.491000	0.48974	GTC		0.701	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2		NM_014431		15	12	1	0	6.72482e-11	0.003163	7.37604e-11	15	12		
SEC24C	9632	broad.mit.edu	37	10	75523669	75523669	+	Silent	SNP	T	T	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr10:75523669T>A	ENST00000339365.2	+	9	1317	c.1155T>A	c.(1153-1155)tcT>tcA	p.S385S	SEC24C_ENST00000345254.4_Silent_p.S385S|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000411652.2_Silent_p.S266S	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	385					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					CTTGCACATCTGACATGGCTA	0.542																																						uc001juw.2		NaN																	0				skin(2)|central_nervous_system(1)	3						c.(1153-1155)TCT>TCA		SEC24-related protein C							62.0	52.0	56.0					10																	75523669		2203	4300	6503	SO:0001819	synonymous_variant	9632				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr10:75523669T>A	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.1155T>A	10.37:g.75523669T>A						SEC24C_uc010qkn.1_Intron|SEC24C_uc009xrj.1_Silent_p.S243S|SEC24C_uc001jux.2_Silent_p.S385S|SEC24C_uc010qko.1_Silent_p.S266S|SEC24C_uc010qkp.1_Intron|SEC24C_uc010qkq.1_Intron	p.S385S	NM_004922	NP_004913	P53992	SC24C_HUMAN			9	1334	+	Prostate(51;0.0112)		385					B4DZT4|Q8WV25	Silent	SNP	ENST00000339365.2	37	c.1155T>A	CCDS7332.1																																																																																				0.542	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1				17	9	0	0	0	0.00499	0	17	9		
DUSP13	51207	broad.mit.edu	37	10	76867962	76867962	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr10:76867962G>A	ENST00000491677.2	-	0	209				DUSP13_ENST00000372700.3_Intron|DUSP13_ENST00000607131.1_Intron|DUSP13_ENST00000607009.1_5'UTR|DUSP13_ENST00000372702.3_Missense_Mutation_p.T52M	NM_001007271.1	NP_001007272.1	Q9UII6	DS13B_HUMAN	dual specificity phosphatase 13						meiotic nuclear division (GO:0007126)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GTTGTTTGCCGTGGCCCTGGG	0.662																																					NSCLC(174;1655 2059 12324 40663 42963)	uc001jws.2		NaN																	0					0						c.(154-156)ACG>ATG		muscle-restricted dual specificity phosphatase							43.0	47.0	46.0					10																	76867962		2065	4202	6267			51207					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:76867962G>A	AB027004	CCDS7346.1, CCDS31224.1, CCDS53542.1	10q23.1	2013-10-25			ENSG00000079393	ENSG00000079393		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	19681	protein-coding gene	gene with protein product		613191				10585869	Standard	XM_005269883		Approved	BEDP, TMDP, FLJ32450, DUSP13A, DUSP13B	uc001jwu.3	Q6B8I1	OTTHUMG00000018516	ENST00000491677.2:c.-334C>T	10.37:g.76867962G>A						DUSP13_uc001jwu.2_Intron|DUSP13_uc001jww.2_Intron|DUSP13_uc009xrs.2_Translation_Start_Site|DUSP13_uc001jwt.2_Translation_Start_Site|DUSP13_uc001jwv.2_Intron	p.T52M	NM_001007271	NP_001007272	Q6B8I1	MDSP_HUMAN			2	210	-	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		52			Tyrosine-protein phosphatase.		A8K776|A8K782|B3KPY1|B3KXT0|B4DUK0|Q5JSC6|Q6IAR0|Q96GC2	Missense_Mutation	SNP	ENST00000491677.2	37	c.155C>T		.	.	.	.	.	.	.	.	.	.	G	15.43	2.830932	0.50845	.	.	ENSG00000079393	ENST00000372702	D	0.86366	-2.11	4.93	4.93	0.64822	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	.	.	.	.	D	0.82820	0.5120	L	0.43152	1.355	0.80722	D	1	P	0.43909	0.821	B	0.39185	0.293	T	0.82350	-0.0501	9	0.30854	T	0.27	.	17.0796	0.86595	0.0:0.0:1.0:0.0	.	52	Q6B8I1	MDSP_HUMAN	M	52	ENSP00000361787:T52M	ENSP00000361787:T52M	T	-	2	0	DUSP13	76537968	0.998000	0.40836	0.871000	0.34182	0.967000	0.64934	3.902000	0.56310	2.551000	0.86045	0.655000	0.94253	ACG		0.662	DUSP13-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding					21	39	0	0	0	0.021523	0	21	39		
DLG5	9231	broad.mit.edu	37	10	79571722	79571722	+	Missense_Mutation	SNP	T	T	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr10:79571722T>A	ENST00000372391.2	-	22	4287	c.4282A>T	c.(4282-4284)Aac>Tac	p.N1428Y	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Missense_Mutation_p.N1088Y	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1428	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			ACGTGGGGGTTGTACTGGGCC	0.667																																						uc001jzk.2		NaN																	0				ovary(5)|breast(3)	8						c.(4282-4284)AAC>TAC		discs large homolog 5							77.0	59.0	65.0					10																	79571722		2203	4300	6503	SO:0001583	missense	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79571722T>A	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.4282A>T	10.37:g.79571722T>A	ENSP00000361467:p.Asn1428Tyr					DLG5_uc001jzi.2_Missense_Mutation_p.N183Y|DLG5_uc001jzj.2_Missense_Mutation_p.N843Y|DLG5_uc009xru.1_RNA	p.N1428Y	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		22	4352	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		1428			PDZ 3.		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	c.4282A>T	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	T	25.0	4.596147	0.86953	.	.	ENSG00000151208	ENST00000372391;ENST00000424842;ENST00000372388	T;T;T	0.52057	0.68;0.68;0.68	5.5	4.34	0.51931	PDZ/DHR/GLGF (3);	0.000000	0.42682	D	0.000679	T	0.72526	0.3471	M	0.92317	3.295	0.48135	D	0.999596	P;D	0.64830	0.74;0.994	P;D	0.63113	0.518;0.911	T	0.79102	-0.1941	10	0.72032	D	0.01	.	13.0581	0.58992	0.0:0.0:0.1442:0.8558	.	1428;1088	Q8TDM6;Q8TDM6-2	DLG5_HUMAN;.	Y	1428;389;1088	ENSP00000361467:N1428Y;ENSP00000394797:N389Y;ENSP00000361464:N1088Y	ENSP00000361464:N1088Y	N	-	1	0	DLG5	79241728	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.696000	0.61774	0.974000	0.38366	0.533000	0.62120	AAC		0.667	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2				31	19	0	0	0	0.013726	0	31	19		
PAPSS2	9060	broad.mit.edu	37	10	89472929	89472929	+	Silent	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr10:89472929C>G	ENST00000361175.4	+	3	612	c.243C>G	c.(241-243)gtC>gtG	p.V81V	PAPSS2_ENST00000427144.2_Silent_p.V85V|PAPSS2_ENST00000482258.1_3'UTR|PAPSS2_ENST00000456849.1_Silent_p.V81V	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	81					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|blood coagulation (GO:0007596)|bone development (GO:0060348)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		GGGACAATGTCCGTCATGGCC	0.517																																						uc001kex.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(241-243)GTC>GTG		3'-phosphoadenosine 5'-phosphosulfate synthase 2							142.0	142.0	142.0					10																	89472929		2203	4300	6503	SO:0001819	synonymous_variant	9060				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity	g.chr10:89472929C>G	AF091242	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			ENSG00000198682	ENSG00000198682	2.7.7.4, 2.7.1.25		8604	protein-coding gene	gene with protein product		603005				9771708	Standard	NM_004670		Approved	ATPSK2	uc001kex.3	O95340	OTTHUMG00000018683	ENST00000361175.4:c.243C>G	10.37:g.89472929C>G						PAPSS2_uc001kew.2_Silent_p.V81V|PAPSS2_uc009xtg.1_RNA	p.V81V	NM_004670	NP_004661	O95340	PAPS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)	3	506	+		Melanoma(5;0.019)|Colorectal(252;0.123)	81			Adenylyl-sulfate kinase.		Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	Silent	SNP	ENST00000361175.4	37	c.243C>G	CCDS7385.1																																																																																				0.517	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049229.1				77	51	0	0	0	0.01441	0	77	51		
SORBS1	10580	broad.mit.edu	37	10	97096652	97096652	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr10:97096652G>T	ENST00000361941.3	-	28	3291	c.3265C>A	c.(3265-3267)Caa>Aaa	p.Q1089K	SORBS1_ENST00000371227.4_Missense_Mutation_p.Q1043K|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000371247.2_Missense_Mutation_p.Q1089K|SORBS1_ENST00000371246.2_Intron|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000277982.5_Intron	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		AAGCTATCTTGGTGGATGCCT	0.562																																						uc001kkp.2		NaN																	0				breast(1)	1						c.(3265-3267)CAA>AAA		sorbin and SH3 domain containing 1 isoform 3							102.0	98.0	99.0					10																	97096652		2203	4300	6503	SO:0001583	missense	10580				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr10:97096652G>T	AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.3265C>A	10.37:g.97096652G>T	ENSP00000355136:p.Gln1089Lys					SORBS1_uc001kkk.2_Intron|SORBS1_uc001kkl.2_Intron|SORBS1_uc001kkn.2_Intron|SORBS1_uc001kkm.2_Intron|SORBS1_uc001kko.2_Intron|SORBS1_uc001kkq.2_Intron|SORBS1_uc001kkr.2_Intron|SORBS1_uc001kks.2_Intron|SORBS1_uc001kkt.2_Intron|SORBS1_uc001kku.2_Intron|SORBS1_uc001kkv.2_Intron|SORBS1_uc001kkw.2_Missense_Mutation_p.Q1043K|SORBS1_uc010qoe.1_Intron	p.Q1089K	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	28	3310	-		Colorectal(252;0.0429)	1089						Missense_Mutation	SNP	ENST00000361941.3	37	c.3265C>A	CCDS31255.1	.	.	.	.	.	.	.	.	.	.	G	6.186	0.402416	0.11696	.	.	ENSG00000095637	ENST00000371247;ENST00000371227;ENST00000361941	T;T;T	0.07800	3.22;3.16;3.22	5.58	3.38	0.38709	.	0.185277	0.26646	N	0.023231	T	0.03827	0.0108	N	0.14661	0.345	0.09310	N	0.999995	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.44375	-0.9332	10	0.06099	T	0.92	-2.3787	7.5229	0.27639	0.1078:0.0:0.6103:0.2819	.	1043;1089	Q9BX66-11;Q9BX66	.;SRBS1_HUMAN	K	1089;1043;1089	ENSP00000360293:Q1089K;ENSP00000360271:Q1043K;ENSP00000355136:Q1089K	ENSP00000355136:Q1089K	Q	-	1	0	SORBS1	97086642	0.863000	0.29885	0.944000	0.38274	0.219000	0.24729	1.424000	0.34848	1.360000	0.45960	0.561000	0.74099	CAA		0.562	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1				39	19	1	0	2.00842e-17	0.010771	2.392e-17	39	19		
SLIT1	6585	broad.mit.edu	37	10	98807755	98807755	+	Splice_Site	SNP	T	T	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr10:98807755T>C	ENST00000266058.4	-	15	1711		c.e15-2		SLIT1_ENST00000371070.4_Splice_Site|ARHGAP19-SLIT1_ENST00000453547.2_Splice_Site	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)						axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GCTCTTTGGCTGGGAAGAGAA	0.597																																						uc001kmw.2		NaN																	0				ovary(4)	4						c.e15-1		slit homolog 1 precursor							138.0	133.0	135.0					10																	98807755		2203	4300	6503	SO:0001630	splice_region_variant	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98807755T>C	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.1466-2A>G	10.37:g.98807755T>C						SLIT1_uc009xvh.1_Splice_Site_p.A499_splice	p.A489_splice	NM_003061	NP_003052	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	15	1718	-		Colorectal(252;0.162)						Q5T0V1|Q8WWZ2|Q9UIL7	Splice_Site	SNP	ENST00000266058.4	37	c.1466_splice	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.126288	0.77549	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371070;ENST00000314867	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5649	0.68168	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLIT1	98797745	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.262000	0.65501	2.020000	0.59435	0.379000	0.24179	.		0.597	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1		NM_003061	Intron	42	119	0	0	0	0.010771	0	42	119		
HPS1	3257	broad.mit.edu	37	10	100185614	100185614	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr10:100185614C>T	ENST00000325103.6	-	12	1349	c.1116G>A	c.(1114-1116)ctG>ctA	p.L372L	HPS1_ENST00000361490.4_Silent_p.L372L|HPS1_ENST00000467246.1_5'UTR	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	372					blood coagulation (GO:0007596)|eye pigmentation (GO:0048069)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of natural killer cell activation (GO:0032816)|retina development in camera-type eye (GO:0060041)|secretion of lysosomal enzymes (GO:0033299)|visual perception (GO:0007601)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	protein dimerization activity (GO:0046983)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		GCCACAGGGGCAGGCAGTACA	0.627									Hermansky-Pudlak syndrome		OREG0020430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010qpf.1		NaN																	0				skin(1)	1						c.(1114-1116)CTG>CTA		Hermansky-Pudlak syndrome 1 protein isoform a							93.0	96.0	95.0					10																	100185614		2203	4300	6503	SO:0001819	synonymous_variant	3257	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity	g.chr10:100185614C>T	U79136	CCDS7475.1, CCDS7476.1	10q23.1-q23.3	2014-06-18		2002-05-01	ENSG00000107521	ENSG00000107521			5163	protein-coding gene	gene with protein product		604982	"""Hermansky-Pudlak syndrome"""	HPS		8541858, 7573033	Standard	NM_182639		Approved		uc021pwv.1	Q92902	OTTHUMG00000018876	ENST00000325103.6:c.1116G>A	10.37:g.100185614C>T			OREG0020430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1349	HPS1_uc001kpi.1_Silent_p.L372L|HPS1_uc001kpj.1_Silent_p.L279L|HPS1_uc001kpk.1_Intron|HPS1_uc010qpg.1_Silent_p.L4L|HPS1_uc009xwb.2_RNA	p.L372L	NM_000195	NP_000186	Q92902	HPS1_HUMAN		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)	12	1362	-		Colorectal(252;0.234)	372					A8MRT2|O15402|O15502|Q5TAA3|Q8WXE5	Silent	SNP	ENST00000325103.6	37	c.1116G>A	CCDS7475.1																																																																																				0.627	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049776.1		NM_000195, NM_182637, NM_182638, NM_182639		22	85	0	0	0	0.016522	0	22	85		
SH3PXD2A	9644	broad.mit.edu	37	10	105495534	105495534	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr10:105495534C>A	ENST00000369774.4	-	4	538	c.262G>T	c.(262-264)Gac>Tac	p.D88Y	SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.D88Y			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	88	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		ACAGCTACGTCCCGGATGTGG	0.572																																						uc001kxj.1		NaN																	0					0						c.(262-264)GAC>TAC		SH3 multiple domains 1							158.0	162.0	160.0					10																	105495534		2203	4300	6503	SO:0001583	missense	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105495534C>A	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.262G>T	10.37:g.105495534C>A	ENSP00000358789:p.Asp88Tyr					SH3PXD2A_uc010qqu.1_Missense_Mutation_p.D18Y	p.D88Y	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	4	402	-		Colorectal(252;0.0815)|Breast(234;0.131)	88			PX.		D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	ENST00000369774.4	37	c.262G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.9|22.9	4.347053|4.347053	0.82022|0.82022	.|.	.|.	ENSG00000107957|ENSG00000107957	ENST00000369774;ENST00000355946;ENST00000536035|ENST00000420222	T;T|.	0.70399|.	-0.48;-0.48|.	5.84|5.84	5.84|5.84	0.93424|0.93424	Phox homologous domain (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83926|0.83926	0.5360|0.5360	M|M	0.89214|0.89214	3.015|3.015	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	D|D	0.85884|0.85884	0.1424|0.1424	10|5	0.87932|.	D|.	0|.	-30.522|-30.522	17.0446|17.0446	0.86499|0.86499	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	88;88|.	Q5TCZ1;Q5TCZ1-3|.	SPD2A_HUMAN;.|.	Y|V	88;88;18|42	ENSP00000358789:D88Y;ENSP00000348215:D88Y|.	ENSP00000348215:D88Y|.	D|G	-|-	1|2	0|0	SH3PXD2A|SH3PXD2A	105485524|105485524	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.913000|0.913000	0.54294|0.54294	5.725000|5.725000	0.68507|0.68507	2.768000|2.768000	0.95171|0.95171	0.561000|0.561000	0.74099|0.74099	GAC|GGA		0.572	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1		NM_014631		107	63	1	0	4.37601e-64	0.01441	6.2595e-64	107	63		
DCLRE1A	9937	broad.mit.edu	37	10	115596934	115596934	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr10:115596934C>G	ENST00000361384.2	-	8	3766	c.2849G>C	c.(2848-2850)gGt>gCt	p.G950A	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.G950A	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	950					mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		GTATTTCCCACCACACTTCTT	0.373								Other identified genes with known or suspected DNA repair function																														uc001law.2		NaN																	0				skin(2)	2						c.(2848-2850)GGT>GCT	Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function	DNA cross-link repair 1A							199.0	190.0	193.0					10																	115596934		2203	4300	6503	SO:0001583	missense	9937				cell division|mitosis	nucleus	hydrolase activity	g.chr10:115596934C>G		CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	609682	"""DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"""			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.2849G>C	10.37:g.115596934C>G	ENSP00000355185:p.Gly950Ala						p.G950A	NM_014881	NP_055696	Q6PJP8	DCR1A_HUMAN		Epithelial(162;0.0157)|all cancers(201;0.0171)	8	3767	-			950					D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Missense_Mutation	SNP	ENST00000361384.2	37	c.2849G>C	CCDS7584.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.232223	0.39498	.	.	ENSG00000198924	ENST00000361384;ENST00000369305	T;T	0.39997	1.05;1.05	5.31	2.26	0.28386	DNA repair metallo-beta-lactamase (1);	0.327336	0.32231	N	0.006383	T	0.27866	0.0686	L	0.31926	0.97	0.27968	N	0.93653	B	0.15473	0.013	B	0.25759	0.063	T	0.16424	-1.0403	10	0.28530	T	0.3	-7.8038	5.3672	0.16121	0.0:0.5321:0.1876:0.2803	.	950	Q6PJP8	DCR1A_HUMAN	A	950	ENSP00000355185:G950A;ENSP00000358311:G950A	ENSP00000355185:G950A	G	-	2	0	DCLRE1A	115586924	0.997000	0.39634	0.877000	0.34402	0.834000	0.47266	0.744000	0.26245	0.255000	0.21593	0.586000	0.80456	GGT		0.373	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050444.1		NM_014881		43	43	0	0	0	0.01441	0	43	43		
ATRNL1	26033	broad.mit.edu	37	10	116975551	116975551	+	Missense_Mutation	SNP	A	A	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr10:116975551A>T	ENST00000355044.3	+	9	1571	c.1445A>T	c.(1444-1446)tAt>tTt	p.Y482F		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	482					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AAGTCCATTTATGTTCATGGA	0.363																																						uc001lcg.2		NaN																	0				ovary(5)|lung(1)|central_nervous_system(1)	7						c.(1444-1446)TAT>TTT		attractin-like 1 precursor							120.0	107.0	111.0					10																	116975551		2202	4300	6502	SO:0001583	missense	26033					integral to membrane	sugar binding	g.chr10:116975551A>T	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.1445A>T	10.37:g.116975551A>T	ENSP00000347152:p.Tyr482Phe						p.Y482F	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	9	1831	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	482			Kelch 4.|Extracellular (Potential).		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	c.1445A>T	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	A	15.92	2.975904	0.53720	.	.	ENSG00000107518	ENST00000355044	T	0.67345	-0.26	5.42	5.42	0.78866	Kelch-type beta propeller (1);	0.119028	0.64402	D	0.000016	T	0.62502	0.2433	L	0.53617	1.68	0.80722	D	1	B	0.09022	0.002	B	0.14578	0.011	T	0.58047	-0.7705	10	0.27785	T	0.31	-14.0738	15.4677	0.75416	1.0:0.0:0.0:0.0	.	482	Q5VV63	ATRN1_HUMAN	F	482	ENSP00000347152:Y482F	ENSP00000347152:Y482F	Y	+	2	0	ATRNL1	116965541	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.603000	0.74145	2.069000	0.61940	0.491000	0.48974	TAT		0.363	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3		XM_049349		7	27	0	0	0	0.001984	0	7	27		
PNLIPRP3	119548	broad.mit.edu	37	10	118228771	118228771	+	Silent	SNP	T	T	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr10:118228771T>C	ENST00000369230.3	+	9	1148	c.1002T>C	c.(1000-1002)aaT>aaC	p.N334N		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	334					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		ACTTCAAAAATATGAAGACTA	0.353																																						uc001lcl.3		NaN																	0				ovary(1)	1						c.(1000-1002)AAT>AAC		pancreatic lipase-related protein 3 precursor							78.0	79.0	78.0					10																	118228771		2203	4297	6500	SO:0001819	synonymous_variant	119548				lipid catabolic process	extracellular region	triglyceride lipase activity	g.chr10:118228771T>C	BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.1002T>C	10.37:g.118228771T>C							p.N334N	NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN		all cancers(201;0.0131)	9	1103	+			334						Silent	SNP	ENST00000369230.3	37	c.1002T>C	CCDS31292.1																																																																																				0.353	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1		XM_058404		29	16	0	0	0	0.008361	0	29	16		
FAM204A	63877	broad.mit.edu	37	10	120095128	120095128	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr10:120095128T>C	ENST00000369183.4	-	4	519	c.260A>G	c.(259-261)cAt>cGt	p.H87R	FAM204A_ENST00000369172.4_Missense_Mutation_p.H87R|FAM204A_ENST00000469758.1_5'UTR	NM_022063.2	NP_071346.1	Q9H8W3	F204A_HUMAN	family with sequence similarity 204, member A	87										kidney(1)|large_intestine(5)|lung(4)|ovary(1)	11						CTGTTCAGAATGTTTTTTATG	0.303																																						uc001ldo.2		NaN																	0					0						c.(259-261)CAT>CGT		hypothetical protein LOC63877							79.0	73.0	75.0					10																	120095128		2201	4299	6500	SO:0001583	missense	63877							g.chr10:120095128T>C	AK023250	CCDS7605.1	10q26.12	2011-06-01	2011-06-01	2011-06-01	ENSG00000165669	ENSG00000165669			25794	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 84"""	C10orf84		12477932	Standard	NM_022063		Approved	FLJ13188, bA319I23.1	uc010qss.1	Q9H8W3	OTTHUMG00000019131	ENST00000369183.4:c.260A>G	10.37:g.120095128T>C	ENSP00000358183:p.His87Arg					C10orf84_uc010qss.1_Missense_Mutation_p.H87R	p.H87R	NM_022063	NP_071346	Q9H8W3	F204A_HUMAN		all cancers(201;0.0244)	4	527	-		Colorectal(252;0.101)	87					D3DRC6|Q5T373|Q9H5V5	Missense_Mutation	SNP	ENST00000369183.4	37	c.260A>G	CCDS7605.1	.	.	.	.	.	.	.	.	.	.	T	4.654	0.121669	0.08931	.	.	ENSG00000165669	ENST00000369183;ENST00000369172;ENST00000369170	.	.	.	6.17	2.59	0.31030	.	0.406165	0.28641	N	0.014625	T	0.39200	0.1069	L	0.50919	1.6	0.22112	N	0.999352	B	0.06786	0.001	B	0.09377	0.004	T	0.36625	-0.9740	9	0.59425	D	0.04	-4.0768	8.6132	0.33815	0.0:0.2205:0.0:0.7795	.	87	Q9H8W3	F204A_HUMAN	R	87	.	ENSP00000358168:H87R	H	-	2	0	FAM204A	120085118	1.000000	0.71417	0.939000	0.37840	0.730000	0.41778	0.951000	0.29135	0.581000	0.29539	0.533000	0.62120	CAT		0.303	FAM204A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050596.2		NM_022063		5	36	0	0	0	0.001984	0	5	36		
FAM175B	23172	broad.mit.edu	37	10	126519948	126519948	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr10:126519948C>T	ENST00000298492.5	+	8	739	c.694C>T	c.(694-696)Cga>Tga	p.R232*		NM_032182.3	NP_115558.3	Q15018	F175B_HUMAN	family with sequence similarity 175, member B	232					cellular response to freezing (GO:0071497)	BRISC complex (GO:0070552)|cytoplasm (GO:0005737)	polyubiquitin binding (GO:0031593)			NS(1)	1						AAAGAGTGAGCGAGTTGTTGA	0.378																																						uc001lib.3		NaN																	0					0						c.(694-696)CGA>TGA		hypothetical protein LOC23172							97.0	85.0	89.0					10																	126519948		2203	4300	6503	SO:0001587	stop_gained	23172					BRISC complex	polyubiquitin binding	g.chr10:126519948C>T	D63877	CCDS31308.2	10q26.2	2013-01-24	2008-07-02	2008-07-02	ENSG00000165660	ENSG00000165660			28975	protein-coding gene	gene with protein product	"""Abraxas brother"""	611144	"""KIAA0157"""	KIAA0157		8590280	Standard	NM_032182		Approved	Em:AC068896.4, ABRO1	uc001lib.4	Q15018	OTTHUMG00000019218	ENST00000298492.5:c.694C>T	10.37:g.126519948C>T	ENSP00000298492:p.Arg232*						p.R232*	NM_032182	NP_115558	Q15018	F175B_HUMAN			8	739	+			232			Potential.		B4DKR2|Q96H11	Nonsense_Mutation	SNP	ENST00000298492.5	37	c.694C>T	CCDS31308.2	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372882	0.82573	.	.	ENSG00000165660	ENST00000298492	.	.	.	5.7	3.78	0.43462	.	0.190763	0.44483	D	0.000446	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.9695	13.9732	0.64255	0.3939:0.6061:0.0:0.0	.	.	.	.	X	232	.	ENSP00000298492:R232X	R	+	1	2	FAM175B	126509938	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.834000	0.48167	1.398000	0.46701	0.655000	0.94253	CGA		0.378	FAM175B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050891.2		NM_032182		6	44	0	0	0	0.001168	0	6	44		
CTBP2	1488	broad.mit.edu	37	10	126683152	126683152	+	Silent	SNP	G	G	A	rs78653489		TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr10:126683152G>A	ENST00000337195.5	-	7	1065	c.666C>T	c.(664-666)ggC>ggT	p.G222G	CTBP2_ENST00000494626.2_Silent_p.G222G|CTBP2_ENST00000531469.1_Silent_p.G222G|CTBP2_ENST00000334808.6_Silent_p.G290G|CTBP2_ENST00000411419.2_Silent_p.G222G|CTBP2_ENST00000309035.6_Silent_p.G762G	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	222					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CCCTCTGCACGCCCAGGGACC	0.552																																						uc009yak.2		NaN																	0					0						c.(664-666)GGC>GGT		C-terminal binding protein 2 isoform 1							75.0	72.0	73.0					10																	126683152		2203	4300	6503	SO:0001819	synonymous_variant	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126683152G>A	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.666C>T	10.37:g.126683152G>A						CTBP2_uc009yal.2_Silent_p.G222G|CTBP2_uc001lif.3_Silent_p.G222G|CTBP2_uc001lih.3_Silent_p.G222G|CTBP2_uc001lid.3_Silent_p.G290G|CTBP2_uc001lie.3_Silent_p.G762G	p.G222G	NM_001329	NP_001320	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	7	953	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	222					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Silent	SNP	ENST00000337195.5	37	c.666C>T	CCDS7643.1																																																																																				0.552	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3		NM_001083914		14	94	0	0	0	0.020292	0	14	94		
MKI67	4288	broad.mit.edu	37	10	129906934	129906934	+	Missense_Mutation	SNP	T	T	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr10:129906934T>G	ENST00000368654.3	-	13	3545	c.3170A>C	c.(3169-3171)gAg>gCg	p.E1057A	MKI67_ENST00000368653.3_Missense_Mutation_p.E697A|MKI67_ENST00000484853.1_5'Flank	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1057	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCCTGCTGGCTCTCTGTGCGT	0.547																																						uc001lke.2		NaN																	0				ovary(4)|central_nervous_system(2)|skin(1)	7						c.(3169-3171)GAG>GCG		antigen identified by monoclonal antibody Ki-67							288.0	263.0	272.0					10																	129906934		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129906934T>G	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.3170A>C	10.37:g.129906934T>G	ENSP00000357643:p.Glu1057Ala					MKI67_uc001lkf.2_Missense_Mutation_p.E697A|MKI67_uc009yav.1_Missense_Mutation_p.E632A|MKI67_uc009yaw.1_Missense_Mutation_p.E207A	p.E1057A	NM_002417	NP_002408	P46013	KI67_HUMAN			13	3365	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1057			16 X 122 AA approximate repeats.|1.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.3170A>C	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	T	13.04	2.119701	0.37436	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02472	4.28;4.28	3.66	-0.612	0.11597	.	.	.	.	.	T	0.05960	0.0155	L	0.49640	1.575	0.09310	N	1	P;D;P	0.67145	0.582;0.996;0.789	B;D;P	0.79784	0.207;0.993;0.608	T	0.33523	-0.9865	9	0.10636	T	0.68	.	1.492	0.02459	0.1768:0.1047:0.1694:0.5491	.	1056;697;1057	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	A	1057;697;1056	ENSP00000357643:E1057A;ENSP00000357642:E697A	ENSP00000357642:E697A	E	-	2	0	MKI67	129796924	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.672000	0.05244	-0.202000	0.10268	0.459000	0.35465	GAG		0.547	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1		NM_002417		172	115	0	0	0	0.01441	0	172	115		
VENTX	27287	broad.mit.edu	37	10	135053570	135053570	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr10:135053570C>T	ENST00000325980.9	+	3	1048	c.537C>T	c.(535-537)ggC>ggT	p.G179G		NM_014468.3	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	179					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		TTGCCAATGGCCTGCAGCTGC	0.647																																						uc010quy.1		NaN																	0					0						c.(535-537)GGC>GGT		VENT homeobox							40.0	43.0	42.0					10																	135053570		2203	4300	6503	SO:0001819	synonymous_variant	27287				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:135053570C>T	AF068006	CCDS7675.1	10q26.3	2011-06-20	2011-06-01	2005-09-27	ENSG00000151650	ENSG00000151650		"""Homeoboxes / ANTP class : NKL subclass"""	13639	protein-coding gene	gene with protein product		607158	"""VENT-like homeobox 2"", ""VENT homeobox homolog (Xenopus laevis)"""	VENTX2		10790436	Standard	NM_014468		Approved	HPX42B	uc010quy.1	O95231	OTTHUMG00000019307	ENST00000325980.9:c.537C>T	10.37:g.135053570C>T							p.G179G	NM_014468	NP_055283	O95231	VENTX_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)	3	548	+		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	179					Q32MZ3	Silent	SNP	ENST00000325980.9	37	c.537C>T	CCDS7675.1																																																																																				0.647	VENTX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051116.4		NM_014468		22	53	0	0	0	0.01892	0	22	53		
SLC25A22	79751	broad.mit.edu	37	11	800619	800619	+	5'Flank	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr11:800619C>A	ENST00000531214.1	-	0	0				PIDD_ENST00000347755.5_Missense_Mutation_p.E655D|PIDD_ENST00000534649.1_5'Flank|PIDD_ENST00000411829.2_Missense_Mutation_p.E655D	NM_001191060.1	NP_001177989.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22						L-glutamate transport (GO:0015813)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTCAGAGGGCTCGGGGCCCC	0.677																																					Colon(93;848 1468 3270 23355 49636)	uc001lro.1		NaN																	0					0						c.(1963-1965)GAG>GAT		leucine rich repeat and death domain containing							33.0	30.0	31.0					11																	800619		2187	4291	6478	SO:0001631	upstream_gene_variant	55367				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding	g.chr11:800619C>A	AJ428202	CCDS7715.1	11p15.5	2013-05-22			ENSG00000177542	ENSG00000177542		"""Solute carriers"""	19954	protein-coding gene	gene with protein product		609302				11897791	Standard	NM_024698		Approved	GC1, FLJ13044, NET44, EIEE3	uc001lrj.3	Q9H936	OTTHUMG00000133310		11.37:g.800619C>A	Exception_encountered					SLC25A22_uc009yci.2_5'Flank|SLC25A22_uc001lrj.2_5'Flank|LRDD_uc009yck.1_RNA|LRDD_uc001lrk.1_Missense_Mutation_p.E655D|LRDD_uc001lrl.1_Missense_Mutation_p.E498D|LRDD_uc001lrm.1_Missense_Mutation_p.E342D|LRDD_uc001lrn.1_Missense_Mutation_p.E498D|LRDD_uc001lrp.1_Missense_Mutation_p.E317D	p.E655D	NM_145886	NP_665893	Q9HB75	PIDD_HUMAN		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	12	2107	-		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)	655					A8K366|C9J1H6|E9PJD3|E9PKB2|E9PL68|E9PN26|E9PNQ3|E9PP01|E9PR97|Q8TBU8	Missense_Mutation	SNP	ENST00000531214.1	37	c.1965G>T	CCDS7715.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.453379	0.63290	.	.	ENSG00000177595	ENST00000411829;ENST00000347755	T;T	0.22945	1.93;1.93	4.24	2.31	0.28768	.	0.076477	0.53938	D	0.000053	T	0.31263	0.0791	L	0.27053	0.805	0.31791	N	0.629626	P;D;D;D	0.71674	0.885;0.991;0.998;0.993	P;P;D;P	0.77557	0.482;0.743;0.99;0.826	T	0.21143	-1.0254	10	0.31617	T	0.26	.	8.8033	0.34923	0.0:0.8108:0.0:0.1892	.	366;655;498;655	Q9HB75-5;Q9HB75;Q9HB75-3;Q9HB75-2	.;PIDD_HUMAN;.;.	D	655	ENSP00000416801:E655D;ENSP00000337797:E655D	ENSP00000337797:E655D	E	-	3	2	PIDD	790619	1.000000	0.71417	0.988000	0.46212	0.226000	0.24999	1.501000	0.35693	0.742000	0.32697	0.491000	0.48974	GAG		0.677	SLC25A22-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384124.1				17	1	1	0	4.75885e-15	0.00499	5.49098e-15	17	1		
MUC6	4588	broad.mit.edu	37	11	1018244	1018244	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr11:1018244G>C	ENST00000421673.2	-	31	4607	c.4557C>G	c.(4555-4557)aaC>aaG	p.N1519K		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1519	Pro-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TAGGTGTTTTGTTTGTGCTGA	0.547																																						uc001lsw.2		NaN																	0				ovary(1)	1						c.(4555-4557)AAC>AAG		mucin 6, gastric							232.0	241.0	238.0					11																	1018244		2166	4261	6427	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1018244G>C	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.4557C>G	11.37:g.1018244G>C	ENSP00000406861:p.Asn1519Lys						p.N1519K	NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	4608	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1519			Pro-rich.|Thr-rich.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.4557C>G	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	0.044	-1.273201	0.01421	.	.	ENSG00000184956	ENST00000421673	T	0.17528	2.27	2.56	1.61	0.23674	.	.	.	.	.	T	0.07818	0.0196	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40997	-0.9533	9	0.06365	T	0.9	.	7.6494	0.28340	0.1447:0.0:0.8553:0.0	.	1519	Q6W4X9	MUC6_HUMAN	K	1519	ENSP00000406861:N1519K	ENSP00000406861:N1519K	N	-	3	2	MUC6	1008244	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.133000	0.10451	0.367000	0.24454	0.313000	0.20887	AAC		0.547	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2		XM_290540		121	11	0	0	0	0.01441	0	121	11		
OR52N4	390072	broad.mit.edu	37	11	5775984	5775984	+	Missense_Mutation	SNP	A	A	C	rs372632967		TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr11:5775984A>C	ENST00000317254.3	+	1	62	c.14A>C	c.(13-15)aAt>aCt	p.N5T	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	5						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		CTAACACTGAATAAAACAGAC	0.358																																						uc001mbu.2		NaN																	0				ovary(1)|skin(1)	2						c.(13-15)AAT>ACT		olfactory receptor, family 52, subfamily N,							93.0	89.0	90.0					11																	5775984		1855	4100	5955	SO:0001583	missense	390072				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5775984A>C	AB065813	CCDS44528.1	11p15.4	2013-10-10	2013-10-10		ENSG00000181074	ENSG00000181074		"""GPCR / Class A : Olfactory receptors"""	15230	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily N, member 4"""				Standard	NM_001005175		Approved		uc001mbu.3	Q8NGI2	OTTHUMG00000066887	ENST00000317254.3:c.14A>C	11.37:g.5775984A>C	ENSP00000323224:p.Asn5Thr					TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	p.N5T	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)	1	62	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	5			Extracellular (Potential).		B2RNP8|Q6IF77	Missense_Mutation	SNP	ENST00000317254.3	37	c.14A>C	CCDS44528.1	.	.	.	.	.	.	.	.	.	.	A	18.63	3.666125	0.67700	.	.	ENSG00000181074	ENST00000317254	T	0.64260	-0.09	5.29	5.29	0.74685	.	0.000000	0.52532	D	0.000080	T	0.80639	0.4661	M	0.92507	3.315	0.09310	N	1	D	0.71674	0.998	D	0.66602	0.945	T	0.75830	-0.3179	10	0.87932	D	0	.	8.8208	0.35025	0.9161:0.0:0.0839:0.0	.	5	Q8NGI2	O52N4_HUMAN	T	5	ENSP00000323224:N5T	ENSP00000323224:N5T	N	+	2	0	OR52N4	5732560	0.928000	0.31464	0.075000	0.20258	0.375000	0.29983	2.867000	0.48428	2.235000	0.73313	0.451000	0.29950	AAT		0.358	OR52N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143350.1		NM_001005175		29	1	0	0	0	0.00632	0	29	1		
OR56A1	120796	broad.mit.edu	37	11	6048854	6048854	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr11:6048854G>T	ENST00000316650.5	-	1	117	c.81C>A	c.(79-81)ttC>ttA	p.F27L		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	27						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCAACTCTGGAAGTTGGGGA	0.572																																						uc010qzw.1		NaN																	0				ovary(2)|breast(1)	3						c.(79-81)TTC>TTA		olfactory receptor, family 56, subfamily A,							96.0	93.0	94.0					11																	6048854		2201	4296	6497	SO:0001583	missense	120796				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6048854G>T	AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"""GPCR / Class A : Olfactory receptors"""	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.81C>A	11.37:g.6048854G>T	ENSP00000321246:p.Phe27Leu						p.F27L	NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	81	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	27			Extracellular (Potential).		B2RNI2|Q6IFL0	Missense_Mutation	SNP	ENST00000316650.5	37	c.81C>A	CCDS31405.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.381044	0.00205	.	.	ENSG00000180934	ENST00000316650	T	0.00017	9.09	4.27	0.123	0.14709	.	0.650097	0.12675	N	0.448471	T	0.00039	0.0001	N	0.01152	-0.98	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40059	-0.9583	10	0.02654	T	1	.	0.8496	0.01169	0.2865:0.257:0.3089:0.1476	.	27	Q8NGH5	O56A1_HUMAN	L	27	ENSP00000321246:F27L	ENSP00000321246:F27L	F	-	3	2	OR56A1	6005430	0.618000	0.27051	0.007000	0.13788	0.037000	0.13140	0.894000	0.28350	0.153000	0.19213	0.655000	0.94253	TTC		0.572	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383757.1		NM_001001917		64	5	1	0	7.75977e-34	0.01441	1.04026e-33	64	5		
OR10A6	390093	broad.mit.edu	37	11	7949365	7949365	+	Missense_Mutation	SNP	G	G	T	rs372970469		TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr11:7949365G>T	ENST00000309838.2	-	1	844	c.845C>A	c.(844-846)aCa>aAa	p.T282K		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CAGCAGTGGTGTCAGAAGTGA	0.423																																						uc010rbh.1		NaN																	0				ovary(1)|skin(1)	2						c.(844-846)ACA>AAA		olfactory receptor, family 10, subfamily A,							176.0	159.0	165.0					11																	7949365		2201	4296	6497	SO:0001583	missense	390093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7949365G>T	AB065515	CCDS31420.1	11p15.4	2012-08-09			ENSG00000175393	ENSG00000175393		"""GPCR / Class A : Olfactory receptors"""	15132	protein-coding gene	gene with protein product							Standard	NM_001004461		Approved		uc010rbh.2	Q8NH74	OTTHUMG00000165671	ENST00000309838.2:c.845C>A	11.37:g.7949365G>T	ENSP00000312470:p.Thr282Lys						p.T282K	NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	845	-			282			Helical; Name=7; (Potential).		Q6IF59	Missense_Mutation	SNP	ENST00000309838.2	37	c.845C>A	CCDS31420.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.378965	0.24944	.	.	ENSG00000175393	ENST00000309838	T	0.38240	1.15	4.43	3.51	0.40186	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44688	D	0.000425	T	0.62889	0.2465	H	0.96833	3.89	0.09310	N	1	P	0.49696	0.927	P	0.57846	0.828	T	0.61317	-0.7087	10	0.87932	D	0	.	5.6688	0.17711	0.1059:0.2021:0.692:0.0	.	282	Q8NH74	O10A6_HUMAN	K	282	ENSP00000312470:T282K	ENSP00000312470:T282K	T	-	2	0	OR10A6	7905941	0.082000	0.21442	0.540000	0.28089	0.006000	0.05464	2.021000	0.41020	2.452000	0.82932	0.655000	0.94253	ACA		0.423	OR10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385703.1		NM_001004461		49	8	1	0	4.25531e-23	0.01441	5.30719e-23	49	8		
ZNF143	7702	broad.mit.edu	37	11	9522678	9522678	+	Silent	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr11:9522678G>T	ENST00000396602.2	+	11	1127	c.1008G>T	c.(1006-1008)cgG>cgT	p.R336R	ZNF143_ENST00000396604.1_Silent_p.R335R|ZNF143_ENST00000530463.1_Silent_p.R335R|ZNF143_ENST00000396597.3_Silent_p.R305R|ZNF143_ENST00000299606.2_Silent_p.R308R	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	336					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		GCTGCGGTCGGTCCTTTACAA	0.423																																						uc001mhr.2		NaN																	0					0						c.(1006-1008)CGG>CGT		zinc finger protein 143							119.0	115.0	116.0					11																	9522678		2201	4294	6495	SO:0001819	synonymous_variant	7702				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding	g.chr11:9522678G>T	U09850	CCDS7799.2, CCDS60720.1, CCDS60721.1	11p15.4	2013-01-08	2006-06-13		ENSG00000166478	ENSG00000166478		"""Zinc fingers, C2H2-type"""	12928	protein-coding gene	gene with protein product		603433	"""zinc finger protein 143 (clone pHZ-1)"""				Standard	NM_003442		Approved	SBF, pHZ-1, STAF	uc001mhr.3	P52747	OTTHUMG00000149922	ENST00000396602.2:c.1008G>T	11.37:g.9522678G>T						ZNF143_uc009yfu.2_Silent_p.R335R|ZNF143_uc010rby.1_Silent_p.R305R	p.R336R	NM_003442	NP_003433	P52747	ZN143_HUMAN		all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)	11	1126	+			336			C2H2-type 4.		A8K518|B4DLY5|E7ER34|O75559|Q8WUK9	Silent	SNP	ENST00000396602.2	37	c.1008G>T	CCDS7799.2																																																																																				0.423	ZNF143-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313921.2		NM_003442		71	10	1	0	8.27458e-37	0.01441	1.12283e-36	71	10		
C11orf58	10944	broad.mit.edu	37	11	16776487	16776487	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr11:16776487C>A	ENST00000228136.4	+	5	766	c.388C>A	c.(388-390)Cct>Act	p.P130T	C11orf58_ENST00000422258.2_Missense_Mutation_p.P86T|C11orf58_ENST00000525684.1_3'UTR			O00193	SMAP_HUMAN	chromosome 11 open reading frame 58	130	Asp-rich.									NS(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)	7						tTCACCTGATCCTGAAAGTCC	0.438																																						uc001mmk.2		NaN																	0					0						c.(388-390)CCT>ACT		small acidic protein isoform a							73.0	66.0	68.0					11																	16776487		2200	4294	6494	SO:0001583	missense	10944							g.chr11:16776487C>A	BC007103	CCDS7822.1	11p15.1	2012-05-30			ENSG00000110696	ENSG00000110696			16990	protein-coding gene	gene with protein product	"""small acidic protein"""					9263035	Standard	NM_014267		Approved	SMAP	uc001mmk.2	O00193	OTTHUMG00000165910	ENST00000228136.4:c.388C>A	11.37:g.16776487C>A	ENSP00000228136:p.Pro130Thr					C11orf58_uc010rct.1_Missense_Mutation_p.P86T	p.P130T	NM_014267	NP_055082	O00193	SMAP_HUMAN			5	566	+			130			Asp-rich.		B2RD28	Missense_Mutation	SNP	ENST00000228136.4	37	c.388C>A	CCDS7822.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.243624	0.58995	.	.	ENSG00000110696	ENST00000228136;ENST00000422258	.	.	.	5.21	4.28	0.50868	.	0.387155	0.31721	N	0.007171	T	0.37156	0.0993	N	0.24115	0.695	0.32498	N	0.539229	B	0.13145	0.007	B	0.17433	0.018	T	0.39057	-0.9632	9	0.15952	T	0.53	.	13.3988	0.60870	0.0:0.836:0.164:0.0	.	130	O00193	SMAP_HUMAN	T	130;86	.	ENSP00000228136:P130T	P	+	1	0	C11orf58	16733063	0.986000	0.35501	1.000000	0.80357	0.999000	0.98932	3.103000	0.50298	1.128000	0.42052	0.650000	0.86243	CCT		0.438	C11orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387023.2		NM_014267		29	3	1	0	1.2476e-16	0.00632	1.4701e-16	29	3		
OR8K5	219453	broad.mit.edu	37	11	55927213	55927213	+	Missense_Mutation	SNP	T	T	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr11:55927213T>G	ENST00000313447.1	-	1	580	c.581A>C	c.(580-582)gAa>gCa	p.E194A		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				CAATTCTATTTCCTGTGCATT	0.333																																						uc010rja.1		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(580-582)GAA>GCA		olfactory receptor, family 8, subfamily K,							82.0	84.0	83.0					11																	55927213		2201	4296	6497	SO:0001583	missense	219453				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55927213T>G	BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"""GPCR / Class A : Olfactory receptors"""	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.581A>C	11.37:g.55927213T>G	ENSP00000323853:p.Glu194Ala						p.E194A	NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN			1	581	-	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)	194			Extracellular (Potential).		Q6IFB5	Missense_Mutation	SNP	ENST00000313447.1	37	c.581A>C	CCDS31521.1	.	.	.	.	.	.	.	.	.	.	T	12.13	1.846790	0.32606	.	.	ENSG00000181752	ENST00000313447	T	0.00367	7.77	4.18	0.0526	0.14303	GPCR, rhodopsin-like superfamily (1);	0.244558	0.29624	N	0.011625	T	0.00178	0.0005	N	0.05050	-0.12	0.09310	N	1	P	0.41475	0.751	B	0.44315	0.446	T	0.49341	-0.8950	10	0.48119	T	0.1	.	3.5624	0.07887	0.4972:0.1087:0.0:0.3941	.	194	Q8NH50	OR8K5_HUMAN	A	194	ENSP00000323853:E194A	ENSP00000323853:E194A	E	-	2	0	OR8K5	55683789	0.000000	0.05858	0.003000	0.11579	0.796000	0.44982	0.028000	0.13644	0.232000	0.21100	0.462000	0.41574	GAA		0.333	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1		NM_001004058		7	61	0	0	0	0.001984	0	7	61		
OR5T1	390155	broad.mit.edu	37	11	56043760	56043760	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr11:56043760G>T	ENST00000313033.2	+	1	732	c.646G>T	c.(646-648)Ggc>Tgc	p.G216C		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	216						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					CTACTTTGTGGGCTCTATTGA	0.408																																						uc001nio.1		NaN																	0				ovary(2)|pancreas(1)	3						c.(646-648)GGC>TGC		olfactory receptor, family 5, subfamily T,							220.0	209.0	213.0					11																	56043760		2201	4296	6497	SO:0001583	missense	390155				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56043760G>T	AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"""GPCR / Class A : Olfactory receptors"""	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.646G>T	11.37:g.56043760G>T	ENSP00000323612:p.Gly216Cys						p.G216C	NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN			1	646	+	Esophageal squamous(21;0.00448)		216			Helical; Name=5; (Potential).		B2RNM9	Missense_Mutation	SNP	ENST00000313033.2	37	c.646G>T	CCDS31525.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319208	0.60524	.	.	ENSG00000181698	ENST00000313033	T	0.38077	1.16	3.44	2.5	0.30297	GPCR, rhodopsin-like superfamily (1);	0.120753	0.36815	N	0.002400	T	0.48314	0.1493	M	0.76002	2.32	0.09310	N	1	P	0.43909	0.821	P	0.53861	0.736	T	0.35798	-0.9774	10	0.72032	D	0.01	.	7.0695	0.25171	0.2206:0.0:0.7794:0.0	.	216	Q8NG75	OR5T1_HUMAN	C	216	ENSP00000323612:G216C	ENSP00000323612:G216C	G	+	1	0	OR5T1	55800336	0.000000	0.05858	0.002000	0.10522	0.868000	0.49771	-0.429000	0.06982	0.771000	0.33359	0.465000	0.42564	GGC		0.408	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1		NM_001004745		76	113	1	0	1.14856e-27	0.01441	1.48245e-27	76	113		
FAM111B	374393	broad.mit.edu	37	11	58893494	58893494	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr11:58893494G>C	ENST00000343597.3	+	4	2115	c.1924G>C	c.(1924-1926)Gat>Cat	p.D642H	FAM111B_ENST00000411426.1_Missense_Mutation_p.D612H|FAM111B_ENST00000529618.1_Missense_Mutation_p.D612H	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	642							catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						GCTTAGTTATGATACTTGTTT	0.413																																						uc001nnl.2		NaN																	0				ovary(2)	2						c.(1924-1926)GAT>CAT		hypothetical protein LOC374393 isoform a							137.0	117.0	124.0					11																	58893494		2201	4295	6496	SO:0001583	missense	374393						catalytic activity	g.chr11:58893494G>C	BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.1924G>C	11.37:g.58893494G>C	ENSP00000341565:p.Asp642His					FAM111B_uc001nnm.2_Missense_Mutation_p.D612H|FAM111B_uc010rko.1_Missense_Mutation_p.D612H	p.D642H	NM_198947	NP_945185	Q6SJ93	F111B_HUMAN			4	2167	+			642					B4E2G2|Q6P661	Missense_Mutation	SNP	ENST00000343597.3	37	c.1924G>C	CCDS7972.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409673	0.42715	.	.	ENSG00000189057	ENST00000411426;ENST00000529618;ENST00000343597	D;D;D	0.89875	-2.58;-2.58;-2.58	4.77	2.82	0.32997	Peptidase cysteine/serine, trypsin-like (1);	0.354554	0.24265	N	0.040051	D	0.87309	0.6145	L	0.52905	1.665	0.26354	N	0.977158	B	0.34161	0.439	B	0.39876	0.312	T	0.80162	-0.1497	10	0.56958	D	0.05	.	12.3132	0.54940	0.0:0.327:0.673:0.0	.	642	Q6SJ93	F111B_HUMAN	H	612;612;642	ENSP00000393855:D612H;ENSP00000432875:D612H;ENSP00000341565:D642H	ENSP00000341565:D642H	D	+	1	0	FAM111B	58650070	1.000000	0.71417	0.052000	0.19188	0.003000	0.03518	1.558000	0.36309	0.575000	0.29434	-0.172000	0.13284	GAT		0.413	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393974.1		NM_198947		35	41	0	0	0	0.006999	0	35	41		
ZP1	22917	broad.mit.edu	37	11	60635046	60635046	+	Silent	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr11:60635046C>G	ENST00000278853.5	+	1	12	c.12C>G	c.(10-12)ggC>ggG	p.G4G		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	4					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TGGCAGGAGGCTCAGCCACGA	0.667																																						uc001nqd.2		NaN																	0					0						c.(10-12)GGC>GGG		zona pellucida glycoprotein 1 precursor							56.0	56.0	56.0					11																	60635046		2203	4299	6502	SO:0001819	synonymous_variant	22917				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:60635046C>G	BC067899	CCDS31572.1	11q12.2	2013-01-17			ENSG00000149506	ENSG00000149506		"""Zona pellucida glycoproteins"""	13187	protein-coding gene	gene with protein product		195000				10542331	Standard	NM_207341		Approved		uc001nqd.3	P60852	OTTHUMG00000167797	ENST00000278853.5:c.12C>G	11.37:g.60635046C>G						ZP1_uc001nqe.2_5'Flank	p.G4G	NM_207341	NP_997224	P60852	ZP1_HUMAN			1	32	+			4						Silent	SNP	ENST00000278853.5	37	c.12C>G	CCDS31572.1																																																																																				0.667	ZP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396329.1		NM_207341		32	31	0	0	0	0.015359	0	32	31		
MTA2	9219	broad.mit.edu	37	11	62363785	62363785	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr11:62363785C>G	ENST00000278823.2	-	11	1371	c.982G>C	c.(982-984)Gac>Cac	p.D328H	MTA2_ENST00000524902.1_Missense_Mutation_p.D155H|MTA2_ENST00000527204.1_Missense_Mutation_p.D155H	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	328					ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						AGTTTGCTGTCTGCTTCAGCA	0.468																																						uc001ntq.1		NaN																	0				ovary(1)|skin(1)	2						c.(982-984)GAC>CAC		metastasis-associated protein 2							114.0	101.0	106.0					11																	62363785		2202	4299	6501	SO:0001583	missense	9219				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:62363785C>G	AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"""GATA zinc finger domain containing"""	7411	protein-coding gene	gene with protein product		603947	"""metastasis associated gene family, member 2"""	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.982G>C	11.37:g.62363785C>G	ENSP00000278823:p.Asp328His					MTA2_uc010rlx.1_Missense_Mutation_p.D155H	p.D328H	NM_004739	NP_004730	O94776	MTA2_HUMAN			11	1363	-			328					Q68DB1|Q9UQB5	Missense_Mutation	SNP	ENST00000278823.2	37	c.982G>C	CCDS8022.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.722395	0.89298	.	.	ENSG00000149480	ENST00000278823;ENST00000524902;ENST00000527204	T;T;T	0.45668	1.48;0.89;0.89	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.47414	0.1444	N	0.14661	0.345	0.80722	D	1	D	0.69078	0.997	P	0.62813	0.907	T	0.53129	-0.8482	10	0.87932	D	0	-24.7597	17.6175	0.88071	0.0:1.0:0.0:0.0	.	328	O94776	MTA2_HUMAN	H	328;155;155	ENSP00000278823:D328H;ENSP00000431346:D155H;ENSP00000431797:D155H	ENSP00000278823:D328H	D	-	1	0	MTA2	62120361	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.690000	0.84178	2.759000	0.94783	0.561000	0.74099	GAC		0.468	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395578.1		NM_004739		21	23	0	0	0	0.01892	0	21	23		
SIPA1	6494	broad.mit.edu	37	11	65417137	65417137	+	Silent	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr11:65417137G>C	ENST00000394224.3	+	11	2927	c.2631G>C	c.(2629-2631)ctG>ctC	p.L877L	SIPA1_ENST00000527525.1_Silent_p.L775L|SIPA1_ENST00000394227.3_Silent_p.L775L|MIR4489_ENST00000578869.1_RNA|SIPA1_ENST00000534313.1_Silent_p.L877L	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	877					cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						AGACACCCCTGACCCAGGTGA	0.607																																						uc001ofb.2		NaN																	0					0						c.(2629-2631)CTG>CTC		signal-induced proliferation-associated protein							85.0	85.0	85.0					11																	65417137		2201	4297	6498	SO:0001819	synonymous_variant	6494				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	g.chr11:65417137G>C	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.2631G>C	11.37:g.65417137G>C						SIPA1_uc010rom.1_Silent_p.L775L|SIPA1_uc001ofd.2_Silent_p.L877L	p.L877L	NM_006747	NP_006738	Q96FS4	SIPA1_HUMAN			11	2798	+			877					O14518|O60484|O60618|Q2YD83	Silent	SNP	ENST00000394224.3	37	c.2631G>C	CCDS8108.1																																																																																				0.607	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1		NM_006747		68	65	0	0	0	0.01441	0	68	65		
PAAF1	80227	broad.mit.edu	37	11	73625498	73625498	+	Missense_Mutation	SNP	G	G	C	rs367553624		TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr11:73625498G>C	ENST00000310571.3	+	8	821	c.768G>C	c.(766-768)ttG>ttC	p.L256F	PAAF1_ENST00000536003.1_Missense_Mutation_p.L239F|PAAF1_ENST00000541951.1_Missense_Mutation_p.L141F|PAAF1_ENST00000376384.5_Missense_Mutation_p.L239F|PAAF1_ENST00000544909.1_Missense_Mutation_p.L257F|PAAF1_ENST00000544552.1_Missense_Mutation_p.L239F|PAAF1_ENST00000535604.1_Missense_Mutation_p.L141F	NM_025155.2	NP_079431.1	Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	256					viral process (GO:0016032)	proteasome complex (GO:0000502)				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					TGCTGCTCTTGGCCCGGGAAG	0.498																																						uc001ouk.1		NaN																	0				ovary(1)|skin(1)	2						c.(766-768)TTG>TTC		proteasomal ATPase-associated factor 1							115.0	96.0	103.0					11																	73625498		2200	4293	6493	SO:0001583	missense	80227				interspecies interaction between organisms	proteasome complex	protein binding	g.chr11:73625498G>C	BC006142	CCDS8226.1, CCDS58157.1, CCDS58158.1	11q13.4	2013-05-21	2007-08-16	2007-08-16	ENSG00000175575	ENSG00000175575		"""WD repeat domain containing"""	25687	protein-coding gene	gene with protein product			"""WD repeat domain 71"""	WDR71		15831487, 17317272, 17289585	Standard	NM_001267803		Approved	FLJ11848, Rpn14	uc001ouk.2	Q9BRP4	OTTHUMG00000168062	ENST00000310571.3:c.768G>C	11.37:g.73625498G>C	ENSP00000311665:p.Leu256Phe					PAAF1_uc001oul.1_Missense_Mutation_p.L239F|PAAF1_uc009ytx.1_RNA|PAAF1_uc001oum.1_Missense_Mutation_p.L239F	p.L256F	NM_025155	NP_079431	Q9BRP4	PAAF1_HUMAN			8	802	+	Breast(11;7.42e-05)		256					A6NDR5|B4DPB0|B7ZAS9|Q4G165|Q53HS9|Q7Z500|Q8TBU6|Q9HAB6	Missense_Mutation	SNP	ENST00000310571.3	37	c.768G>C	CCDS8226.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.099241	0.76983	.	.	ENSG00000175575	ENST00000541951;ENST00000310571;ENST00000543814;ENST00000535604;ENST00000536003;ENST00000544552;ENST00000546039;ENST00000376384;ENST00000544909	T;T;T;T;T;T;T;T;T	0.39229	2.22;2.22;1.09;2.22;2.22;2.22;2.19;2.22;2.22	5.37	4.4	0.53042	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.359211	0.22591	N	0.058091	T	0.59649	0.2209	M	0.64997	1.995	0.43199	D	0.995043	P;D	0.76494	0.665;0.999	B;D	0.68765	0.403;0.96	T	0.60801	-0.7191	10	0.54805	T	0.06	-0.4838	14.3314	0.66559	0.0:0.1492:0.8508:0.0	.	239;256	Q9BRP4-2;Q9BRP4	.;PAAF1_HUMAN	F	141;256;239;141;239;239;120;239;257	ENSP00000441333:L141F;ENSP00000311665:L256F;ENSP00000438894:L239F;ENSP00000438789:L141F;ENSP00000438124:L239F;ENSP00000441494:L239F;ENSP00000439877:L120F;ENSP00000365564:L239F;ENSP00000438071:L257F	ENSP00000311665:L256F	L	+	3	2	PAAF1	73303146	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.669000	0.61575	2.538000	0.85594	0.650000	0.86243	TTG		0.498	PAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397885.1		NM_025155		28	46	0	0	0	0.013726	0	28	46		
C11orf30	56946	broad.mit.edu	37	11	76255837	76255837	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr11:76255837G>A	ENST00000529032.1	+	18	3244	c.3244G>A	c.(3244-3246)Gct>Act	p.A1082T	C11orf30_ENST00000525919.1_Missense_Mutation_p.A1083T|C11orf30_ENST00000334736.3_Missense_Mutation_p.A1082T|C11orf30_ENST00000524490.1_Missense_Mutation_p.A984T|C11orf30_ENST00000533248.1_Missense_Mutation_p.A991T|C11orf30_ENST00000524767.1_Missense_Mutation_p.A1097T|C11orf30_ENST00000525038.1_Missense_Mutation_p.A1083T|C11orf30_ENST00000343878.3_Missense_Mutation_p.A1082T			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	1082	Gln-rich.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						GTCGCTCCCAGCTTCTTCAGA	0.478																																						uc001oxl.2		NaN																	0				ovary(5)|skin(1)	6						c.(3244-3246)GCT>ACT		EMSY protein							62.0	74.0	70.0					11																	76255837		2200	4292	6492	SO:0001583	missense	56946				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr11:76255837G>A	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.3244G>A	11.37:g.76255837G>A	ENSP00000432327:p.Ala1082Thr					C11orf30_uc001oxm.2_Missense_Mutation_p.A984T|C11orf30_uc010rsb.1_Missense_Mutation_p.A1097T|C11orf30_uc010rsc.1_Missense_Mutation_p.A1083T|C11orf30_uc001oxn.2_Missense_Mutation_p.A1083T|C11orf30_uc010rsd.1_Missense_Mutation_p.A991T|C11orf30_uc001oxo.1_Missense_Mutation_p.A436T|C11orf30_uc010rse.1_Missense_Mutation_p.A329T|C11orf30_uc001oxp.2_Missense_Mutation_p.A182T	p.A1082T	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN			19	3387	+			1082			Gln-rich.		B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	c.3244G>A	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	G	12.54	1.969260	0.34754	.	.	ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000343878;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032;ENST00000532719	.	.	.	5.16	4.25	0.50352	.	0.194195	0.47852	N	0.000202	T	0.25644	0.0624	N	0.19112	0.55	0.30368	N	0.783174	B;B;B;B;B;B;B	0.30824	0.296;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.26310	0.068;0.001;0.001;0.002;0.001;0.001;0.001	T	0.13469	-1.0508	9	0.15499	T	0.54	-0.5847	13.2476	0.60031	0.077:0.0:0.923:0.0	.	991;1083;1097;436;1083;984;1082	B7ZKT8;B7ZKU2;B7ZKU0;B3KWW8;Q17RM7;E9PMC9;Q7Z589	.;.;.;.;.;.;EMSY_HUMAN	T	984;1082;1082;764;1097;991;1083;1083;1082;222	.	ENSP00000334130:A1082T	A	+	1	0	C11orf30	75933485	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	5.120000	0.64685	1.177000	0.42855	0.467000	0.42956	GCT		0.478	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2		NM_020193		49	55	0	0	0	0.01441	0	49	55		
MTNR1B	4544	broad.mit.edu	37	11	92715238	92715238	+	Silent	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr11:92715238C>G	ENST00000257068.2	+	2	855	c.849C>G	c.(847-849)ccC>ccG	p.P283P		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	283					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	AAATGGCTCCCCAGATCCCTG	0.498																																						uc001pdk.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(847-849)CCC>CCG		melatonin receptor 1B	Ramelteon(DB00980)						158.0	156.0	156.0					11																	92715238		2201	4298	6499	SO:0001819	synonymous_variant	4544				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	g.chr11:92715238C>G	AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"""GPCR / Class A : Melatonin receptors"""	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.849C>G	11.37:g.92715238C>G							p.P283P	NM_005959	NP_005950	P49286	MTR1B_HUMAN			2	952	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	283			Extracellular (Potential).			Silent	SNP	ENST00000257068.2	37	c.849C>G	CCDS8290.1																																																																																				0.498	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1				116	172	0	0	0	0.01441	0	116	172		
MAML2	84441	broad.mit.edu	37	11	95712374	95712374	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr11:95712374T>C	ENST00000524717.1	-	5	4493	c.3209A>G	c.(3208-3210)aAt>aGt	p.N1070S		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	1070					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				CCTCGACTGATTCAACCCTGT	0.512			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																	uc001pfw.1		NaN		Dom	yes		11	11q22-q23	84441	T	mastermind-like 2 (Drosophila)			E	MECT1|CRTC3		salivary gland mucoepidermoid	CRTC1/MAML2(516)|CRTC3/MAML2(26)	0				salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1)	546						c.(3208-3210)AAT>AGT		mastermind-like 2							130.0	126.0	127.0					11																	95712374		1946	4151	6097	SO:0001583	missense	84441				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr11:95712374T>C	AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.3209A>G	11.37:g.95712374T>C	ENSP00000434552:p.Asn1070Ser						p.N1070S	NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN			5	4494	-		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)	1070					A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Missense_Mutation	SNP	ENST00000524717.1	37	c.3209A>G	CCDS44714.1	.	.	.	.	.	.	.	.	.	.	T	4.881	0.163698	0.09287	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.46819	0.86;0.86	5.72	-0.816	0.10839	.	0.437153	0.21482	N	0.073817	T	0.24736	0.0600	N	0.19112	0.55	0.25890	N	0.983481	B	0.06786	0.001	B	0.09377	0.004	T	0.28490	-1.0042	10	0.07813	T	0.8	-1.8959	9.6977	0.40167	0.0:0.2541:0.0:0.7459	.	1070	Q8IZL2	MAML2_HUMAN	S	1070	ENSP00000434552:N1070S;ENSP00000412394:N1070S	ENSP00000412394:N1070S	N	-	2	0	MAML2	95352022	0.900000	0.30661	0.043000	0.18650	0.793000	0.44817	-0.025000	0.12413	-0.375000	0.07955	0.459000	0.35465	AAT		0.512	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1				27	29	0	0	0	0.007291	0	27	29		
MMP20	9313	broad.mit.edu	37	11	102477386	102477386	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr11:102477386C>T	ENST00000260228.2	-	6	845	c.833G>A	c.(832-834)gGg>gAg	p.G278E	RP11-817J15.2_ENST00000544115.1_RNA|MMP20_ENST00000544938.1_5'UTR|RP11-817J15.2_ENST00000542119.1_RNA	NM_004771.3	NP_004762.2	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 20	297					hard palate development (GO:0060022)|inflammatory response (GO:0006954)|proteolysis (GO:0006508)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G278E(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	Marimastat(DB00786)	AGTGGGCTTCCCCAGGAATAC	0.537																																						uc001phc.2		NaN																	1	Substitution - Missense(1)		lung(1)	urinary_tract(1)|skin(1)	2						c.(832-834)GGG>GAG		matrix metalloproteinase 20 preproprotein							104.0	103.0	103.0					11																	102477386		2203	4299	6502	SO:0001583	missense	9313				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding	g.chr11:102477386C>T	Y12779	CCDS8318.1	11q22.3	2008-05-22	2008-05-22			ENSG00000137674			7167	protein-coding gene	gene with protein product	"""enamelysin"""	604629	"""matrix metalloproteinase 20 (enamelysin)"""			9398237	Standard	NM_004771		Approved		uc001phc.3	O60882		ENST00000260228.2:c.833G>A	11.37:g.102477386C>T	ENSP00000260228:p.Gly278Glu						p.G278E	NM_004771	NP_004762	O60882	MMP20_HUMAN	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	6	846	-	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	278					D3DUA8|Q9H3Q0	Missense_Mutation	SNP	ENST00000260228.2	37	c.833G>A	CCDS8318.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.111557	0.00353	.	.	ENSG00000137674	ENST00000260228	T	0.12984	2.63	5.45	4.47	0.54385	.	0.438616	0.23849	N	0.043976	T	0.11580	0.0282	L	0.55990	1.75	0.09310	N	1	B	0.09022	0.002	B	0.13407	0.009	T	0.42172	-0.9467	10	0.02654	T	1	.	10.9912	0.47551	0.0:0.904:0.0:0.096	.	278	O60882	MMP20_HUMAN	E	278	ENSP00000260228:G278E	ENSP00000260228:G278E	G	-	2	0	MMP20	101982596	0.606000	0.26949	0.237000	0.24090	0.038000	0.13279	1.432000	0.34936	2.835000	0.97688	0.650000	0.86243	GGG		0.537	MMP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398012.1				6	50	0	0	0	0.012213	0	6	50		
MMP10	4319	broad.mit.edu	37	11	102647046	102647046	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr11:102647046G>T	ENST00000279441.4	-	6	933	c.897C>A	c.(895-897)agC>agA	p.S299R		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	299					collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	Marimastat(DB00786)	CCCTCAGAGTGCTGATGGCAT	0.438																																						uc001phg.1		NaN																	0				kidney(1)|lung(1)|breast(1)|central_nervous_system(1)	4						c.(895-897)AGC>AGA		matrix metalloproteinase 10 preproprotein							88.0	85.0	86.0					11																	102647046		2203	4299	6502	SO:0001583	missense	4319				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102647046G>T	X07820	CCDS8321.1	11q22.3	2008-02-05	2005-08-08		ENSG00000166670	ENSG00000166670	3.4.24.22		7156	protein-coding gene	gene with protein product		185260	"""matrix metalloproteinase 10 (stromelysin 2)"""	STMY2			Standard	NM_002425		Approved		uc001phg.2	P09238	OTTHUMG00000168083	ENST00000279441.4:c.897C>A	11.37:g.102647046G>T	ENSP00000279441:p.Ser299Arg						p.S299R	NM_002425	NP_002416	P09238	MMP10_HUMAN	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	6	919	-	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	299			Hemopexin-like 1.		B2R9X9|Q53HH9	Missense_Mutation	SNP	ENST00000279441.4	37	c.897C>A	CCDS8321.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.680060	0.29783	.	.	ENSG00000166670	ENST00000279441	T	0.02498	4.27	4.43	3.52	0.40303	Hemopexin/matrixin (2);	0.468015	0.21850	N	0.068197	T	0.10766	0.0263	M	0.71296	2.17	0.28810	N	0.89831	D	0.65815	0.995	D	0.65573	0.936	T	0.01371	-1.1372	10	0.87932	D	0	.	8.1685	0.31241	0.2332:0.0:0.7668:0.0	.	299	P09238	MMP10_HUMAN	R	299	ENSP00000279441:S299R	ENSP00000279441:S299R	S	-	3	2	MMP10	102152256	0.005000	0.15991	0.139000	0.22197	0.062000	0.15995	0.068000	0.14531	1.221000	0.43506	-0.151000	0.13558	AGC		0.438	MMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398014.1				30	51	1	0	2.47316e-13	0.015359	2.80123e-13	30	51		
MSANTD4	84437	broad.mit.edu	37	11	105880543	105880543	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr11:105880543C>G	ENST00000301919.4	-	3	2172	c.757G>C	c.(757-759)Gag>Cag	p.E253Q	MSANTD4_ENST00000529805.1_5'Flank	NM_032424.1	NP_115800.1	Q8NCY6	MSD4_HUMAN	Myb/SANT-like DNA-binding domain containing 4 with coiled-coils	253						nucleus (GO:0005634)											CGCTCCTTCTCTAGCTGAAGC	0.463																																						uc001piy.2		NaN																	0				breast(1)	1						c.(757-759)GAG>CAG		hypothetical protein LOC84437							89.0	87.0	88.0					11																	105880543		2201	4299	6500	SO:0001583	missense	84437					nucleus		g.chr11:105880543C>G	AB058729	CCDS31663.1	11q22	2012-03-13	2012-03-13	2012-03-13	ENSG00000170903	ENSG00000170903			29383	protein-coding gene	gene with protein product			"""KIAA1826"""	KIAA1826			Standard	XM_005271697		Approved		uc001piz.3	Q8NCY6	OTTHUMG00000166240	ENST00000301919.4:c.757G>C	11.37:g.105880543C>G	ENSP00000304713:p.Glu253Gln					KIAA1826_uc001piz.2_Missense_Mutation_p.E253Q	p.E253Q	NM_032424	NP_115800	Q8NCY6	K1826_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.56e-05)|Epithelial(105;0.00432)|all cancers(92;0.0309)	3	930	-		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	253			Potential.		Q96JK1|Q96JZ3|Q9H2N4	Missense_Mutation	SNP	ENST00000301919.4	37	c.757G>C	CCDS31663.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.029742	0.75504	.	.	ENSG00000170903	ENST00000301919	.	.	.	5.34	5.34	0.76211	.	0.108387	0.64402	D	0.000008	T	0.67468	0.2896	L	0.32530	0.975	0.49213	D	0.999764	P	0.51653	0.947	D	0.65140	0.932	T	0.67868	-0.5559	9	0.52906	T	0.07	-10.3543	19.3874	0.94563	0.0:1.0:0.0:0.0	.	253	Q8NCY6	K1826_HUMAN	Q	253	.	ENSP00000304713:E253Q	E	-	1	0	KIAA1826	105385753	1.000000	0.71417	1.000000	0.80357	0.584000	0.36387	5.136000	0.64783	2.654000	0.90174	0.491000	0.48974	GAG		0.463	MSANTD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388619.1		NM_032424		63	67	0	0	0	0.01441	0	63	67		
ATM	472	broad.mit.edu	37	11	108206598	108206598	+	Silent	SNP	T	T	A	rs367575159		TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr11:108206598T>A	ENST00000452508.2	+	57	8367	c.8178T>A	c.(8176-8178)gcT>gcA	p.A2726A	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Silent_p.A2726A			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2726	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		A -> V (in AT).		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GACAAGATGCTGTCATGCAAC	0.348			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												uc001pkb.1		NaN	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	D|Mis|N|F|S	ataxia telangiectasia mutated			"""L, O"""		leukemia|lymphoma|medulloblastoma|glioma	T-PLL		0				haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240						c.(8176-8178)GCT>GCA	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	ataxia telangiectasia mutated isoform 1							109.0	101.0	104.0					11																	108206598		2201	4298	6499	SO:0001819	synonymous_variant	472	Ataxia_Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108206598T>A	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8178T>A	11.37:g.108206598T>A		TSP Lung(14;0.12)				ATM_uc009yxr.1_Silent_p.A2726A|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Silent_p.A1378A	p.A2726A	NM_000051	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	56	8563	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2726		A -> V (in AT).	PI3K/PI4K.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Silent	SNP	ENST00000452508.2	37	c.8178T>A	CCDS31669.1																																																																																				0.348	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1		NM_000051		20	21	0	0	0	0.010504	0	20	21		
APOA4	337	broad.mit.edu	37	11	116692251	116692251	+	Missense_Mutation	SNP	G	G	C	rs548257183		TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr11:116692251G>C	ENST00000357780.3	-	3	637	c.523C>G	c.(523-525)Ctg>Gtg	p.L175V		NM_000482.3	NP_000473.2	P06727	APOA4_HUMAN	apolipoprotein A-IV	175	13 X 22 AA approximate tandem repeats.				cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron assembly (GO:0034378)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle remodeling (GO:0034375)|hydrogen peroxide catabolic process (GO:0042744)|innate immune response in mucosa (GO:0002227)|leukocyte cell-cell adhesion (GO:0007159)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|multicellular organismal lipid catabolic process (GO:0044240)|negative regulation of plasma lipoprotein particle oxidation (GO:0034445)|phosphatidylcholine metabolic process (GO:0046470)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|protein-lipid complex assembly (GO:0065005)|regulation of cholesterol transport (GO:0032374)|regulation of intestinal cholesterol absorption (GO:0030300)|removal of superoxide radicals (GO:0019430)|response to lipid hydroperoxide (GO:0006982)|response to stilbenoid (GO:0035634)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|cholesterol transporter activity (GO:0017127)|copper ion binding (GO:0005507)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GAGGCCTGCAGGCTGTCGGCG	0.672																																						uc001pps.1		NaN																	0					0						c.(523-525)CTG>GTG		apolipoprotein A-IV precursor							136.0	122.0	127.0					11																	116692251		2201	4296	6497	SO:0001583	missense	337							g.chr11:116692251G>C		CCDS31681.1	11q23.3	2013-01-24			ENSG00000110244	ENSG00000110244		"""Apolipoproteins"""	602	protein-coding gene	gene with protein product		107690					Standard	NM_000482		Approved		uc001pps.1	P06727	OTTHUMG00000046110	ENST00000357780.3:c.523C>G	11.37:g.116692251G>C	ENSP00000350425:p.Leu175Val						p.L175V	NM_000482	NP_000473				BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)	3	627	-	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)						A8MSL6|Q14CW8|Q6Q787	Missense_Mutation	SNP	ENST00000357780.3	37	c.523C>G	CCDS31681.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.377186	0.24944	.	.	ENSG00000110244	ENST00000357780	T	0.77489	-1.1	5.02	1.83	0.25207	Apolipoprotein/apolipophorin (1);	0.316744	0.23512	N	0.047398	D	0.85120	0.5624	M	0.86953	2.85	0.27229	N	0.959451	D	0.76494	0.999	D	0.65573	0.936	T	0.74300	-0.3710	10	0.42905	T	0.14	-14.8831	5.9757	0.19377	0.1428:0.0:0.4787:0.3786	.	175	P06727	APOA4_HUMAN	V	175	ENSP00000350425:L175V	ENSP00000350425:L175V	L	-	1	2	APOA4	116197461	0.785000	0.28726	0.068000	0.19968	0.020000	0.10135	1.042000	0.30303	1.063000	0.40649	0.462000	0.41574	CTG		0.672	APOA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106279.2		NM_000482		119	122	0	0	0	0.01441	0	119	122		
DSCAML1	57453	broad.mit.edu	37	11	117301499	117301499	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr11:117301499C>A	ENST00000321322.6	-	32	5806	c.5805G>T	c.(5803-5805)aaG>aaT	p.K1935N	DSCAML1_ENST00000527706.1_Missense_Mutation_p.K1665N	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1875					axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CATCCTGGGGCTTGGGTGGTG	0.637																																						uc001prh.1		NaN																	0				ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(5803-5805)AAG>AAT		Down syndrome cell adhesion molecule like 1							203.0	173.0	183.0					11																	117301499		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117301499C>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.5805G>T	11.37:g.117301499C>A	ENSP00000315465:p.Lys1935Asn						p.K1935N	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	32	5807	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1875			Cytoplasmic (Potential).		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.5805G>T	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.151113	0.78001	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.70399	-0.43;-0.48	5.04	4.1	0.47936	.	.	.	.	.	T	0.76212	0.3956	L	0.34521	1.04	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.78122	-0.2327	9	0.72032	D	0.01	.	14.0229	0.64568	0.0:0.9254:0.0:0.0746	.	1875	Q8TD84	DSCL1_HUMAN	N	1665;1935;1642	ENSP00000434335:K1665N;ENSP00000315465:K1935N	ENSP00000315465:K1935N	K	-	3	2	DSCAML1	116806709	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.789000	0.38724	2.628000	0.89032	0.591000	0.81541	AAG		0.637	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2		NM_020693		93	126	1	0	1.59228e-47	0.01441	2.20929e-47	93	126		
ROBO3	64221	broad.mit.edu	37	11	124738754	124738754	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr11:124738754C>A	ENST00000397801.1	+	2	409	c.217C>A	c.(217-219)Ctg>Atg	p.L73M	ROBO3_ENST00000538940.1_Missense_Mutation_p.L51M	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	73	Ig-like C2-type 1.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GCCGCCAGATCTGCTGGTCTC	0.667																																						uc001qbc.2		NaN																	0				breast(1)|central_nervous_system(1)	2						c.(217-219)CTG>ATG		roundabout, axon guidance receptor, homolog 3							12.0	17.0	15.0					11																	124738754		2015	4150	6165	SO:0001583	missense	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124738754C>A	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.217C>A	11.37:g.124738754C>A	ENSP00000380903:p.Leu73Met						p.L73M	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	2	409	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	73			Ig-like C2-type 1.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000397801.1	37	c.217C>A	CCDS44755.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.074674	0.76415	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.68624	-0.34;-0.34	5.26	3.36	0.38483	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.31102	N	0.008248	T	0.68403	0.2997	N	0.21282	0.65	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	T	0.68750	-0.5326	10	0.45353	T	0.12	.	11.7879	0.52053	0.0:0.8518:0.0:0.1482	.	73	Q96MS0	ROBO3_HUMAN	M	73;51	ENSP00000380903:L73M;ENSP00000441797:L51M	ENSP00000380903:L73M	L	+	1	2	ROBO3	124243964	0.002000	0.14202	0.997000	0.53966	0.907000	0.53573	0.104000	0.15313	1.216000	0.43427	0.462000	0.41574	CTG		0.667	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1		XM_370663		9	19	1	0	2.17888e-05	0.006214	2.23526e-05	9	19		
PKNOX2	63876	broad.mit.edu	37	11	125221258	125221258	+	Silent	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr11:125221258C>A	ENST00000298282.9	+	4	328	c.57C>A	c.(55-57)gtC>gtA	p.V19V	PKNOX2_ENST00000530517.1_Intron|PKNOX2_ENST00000542175.1_Missense_Mutation_p.S2Y	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	19					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CGCAGAATGTCCCGCCCCCAC	0.657																																						uc001qbu.2		NaN																	0				ovary(3)	3						c.(55-57)GTC>GTA		PBX/knotted 1 homeobox 2							33.0	38.0	37.0					11																	125221258		2095	4211	6306	SO:0001819	synonymous_variant	63876					nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:125221258C>A	AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"""Homeoboxes / TALE class"""	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.57C>A	11.37:g.125221258C>A						PKNOX2_uc010saz.1_Intron|PKNOX2_uc010sba.1_Intron|PKNOX2_uc010sbb.1_Missense_Mutation_p.S2Y	p.V19V	NM_022062	NP_071345	Q96KN3	PKNX2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)	4	371	+		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)	19					B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Silent	SNP	ENST00000298282.9	37	c.57C>A	CCDS41730.1	.	.	.	.	.	.	.	.	.	.	c	16.03	3.007879	0.54361	.	.	ENSG00000165495	ENST00000542175	D	0.84442	-1.85	5.61	4.64	0.57946	.	.	.	.	.	T	0.80031	0.4549	.	.	.	0.24638	N	0.993582	B	0.14012	0.009	B	0.16289	0.015	T	0.71899	-0.4453	8	0.87932	D	0	-9.678	12.8475	0.57837	0.0:0.6768:0.3232:0.0	.	2	F5GZ15	.	Y	2	ENSP00000441470:S2Y	ENSP00000441470:S2Y	S	+	2	0	PKNOX2	124726468	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.155000	0.50700	2.622000	0.88805	0.651000	0.88453	TCC		0.657	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3				11	14	1	0	1.08611e-07	0.010729	1.14381e-07	11	14		
PUS3	83480	broad.mit.edu	37	11	125765537	125765537	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr11:125765537C>A	ENST00000530811.1	-	2	571	c.526G>T	c.(526-528)Gcc>Tcc	p.A176S	HYLS1_ENST00000425380.2_Intron|PUS3_ENST00000227474.3_Missense_Mutation_p.A176S|HYLS1_ENST00000526028.1_Intron|HYLS1_ENST00000356438.3_Intron			Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	176					tRNA pseudouridine synthesis (GO:0031119)	nucleus (GO:0005634)	pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		GGGGCCCAGGCCAATATACGG	0.478																																						uc001qcy.2		NaN																	0				ovary(1)	1						c.(526-528)GCC>TCC		pseudouridylate synthase 3							55.0	58.0	57.0					11																	125765537		2201	4299	6500	SO:0001583	missense	83480					nucleus	RNA binding	g.chr11:125765537C>A	BC004822	CCDS8466.1, CCDS73411.1	11q24.2	2008-02-05							25461	protein-coding gene	gene with protein product						12477932	Standard	NM_031307		Approved	FKSG32	uc001qcy.2	Q9BZE2		ENST00000530811.1:c.526G>T	11.37:g.125765537C>A	ENSP00000432386:p.Ala176Ser					HYLS1_uc009zbv.2_Intron|HYLS1_uc001qcx.3_Intron	p.A176S	NM_031307	NP_112597	Q9BZE2	PUS3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)	3	624	-	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)	176					B2RAM0|Q96D17|Q96J23|Q96NB4	Missense_Mutation	SNP	ENST00000530811.1	37	c.526G>T	CCDS8466.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821599	0.50633	.	.	ENSG00000110060	ENST00000227474;ENST00000530811	T;T	0.53423	0.62;0.62	5.97	5.97	0.96955	Pseudouridine synthase I, TruA, N-terminal (1);Pseudouridine synthase, catalytic domain (1);Pseudouridine synthase I, TruA, alpha/beta domain (1);	0.317729	0.38492	N	0.001670	T	0.52661	0.1748	L	0.41573	1.285	0.45490	D	0.998457	P	0.49696	0.927	P	0.54706	0.759	T	0.45512	-0.9256	10	0.41790	T	0.15	-13.6941	13.5933	0.61971	0.0:0.9293:0.0:0.0707	.	176	Q9BZE2	PUS3_HUMAN	S	176	ENSP00000227474:A176S;ENSP00000432386:A176S	ENSP00000227474:A176S	A	-	1	0	PUS3	125270747	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.973000	0.49264	2.835000	0.97688	0.591000	0.81541	GCC		0.478	PUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386783.1		NM_031307		44	37	1	0	2.26627e-22	0.007835	2.82014e-22	44	37		
LRTM2	654429	broad.mit.edu	37	12	1940231	1940231	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr12:1940231G>A	ENST00000543818.1	+	4	1040	c.198G>A	c.(196-198)gtG>gtA	p.V66V	LRTM2_ENST00000543730.1_Intron|LRTM2_ENST00000299194.1_Silent_p.V66V|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000585732.1_Intron|LRTM2_ENST00000535041.1_Silent_p.V66V|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000585708.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	66	LRRNT.					integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			CCCCAGACGTGCCCGCAGCCA	0.642																																						uc001qjt.2		NaN																	0				large_intestine(1)	1						c.(196-198)GTG>GTA		leucine-rich repeats and transmembrane domains 2							82.0	86.0	84.0					12																	1940231		2203	4300	6503	SO:0001819	synonymous_variant	654429					integral to membrane		g.chr12:1940231G>A	AK095610	CCDS31726.1	12p13.33	2008-02-05				ENSG00000166159			32443	protein-coding gene	gene with protein product							Standard	NM_001039029		Approved		uc010sdx.1	Q8N967		ENST00000543818.1:c.198G>A	12.37:g.1940231G>A						CACNA2D4_uc001qjp.2_Intron|CACNA2D4_uc009zds.1_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.1_Intron|LRTM2_uc001qju.2_Silent_p.V66V|LRTM2_uc010sdx.1_Silent_p.V66V|LRTM2_uc001qjv.2_Intron	p.V66V	NM_001039029	NP_001034118	Q8N967	LRTM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000834)		4	1004	+	Ovarian(42;0.107)		66			LRRNT.|Extracellular (Potential).		A7E2U6	Silent	SNP	ENST00000543818.1	37	c.198G>A	CCDS31726.1																																																																																				0.642	LRTM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398055.1				94	79	0	0	0	0.01441	0	94	79		
TAS2R9	50835	broad.mit.edu	37	12	10962143	10962143	+	Missense_Mutation	SNP	A	A	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr12:10962143A>T	ENST00000240691.2	-	1	624	c.532T>A	c.(532-534)Ttc>Atc	p.F178I	TAS2R8_ENST00000240615.2_5'Flank	NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	178					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	taste receptor activity (GO:0008527)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AACTGTTTGAAAGTACCTGGA	0.378																																						uc001qyx.2		NaN																	0				skin(1)	1						c.(532-534)TTC>ATC		taste receptor, type 2, member 9							67.0	67.0	67.0					12																	10962143		2202	4300	6502	SO:0001583	missense	50835				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10962143A>T	AF227135	CCDS8633.1	12p13	2012-08-22			ENSG00000121381	ENSG00000121381		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14917	protein-coding gene	gene with protein product		604795				10761934, 10766242	Standard	NM_023917		Approved	T2R9, TRB6	uc001qyx.3	Q9NYW1	OTTHUMG00000168507	ENST00000240691.2:c.532T>A	12.37:g.10962143A>T	ENSP00000240691:p.Phe178Ile					TAS2R8_uc010shh.1_5'Flank	p.F178I	NM_023917	NP_076406	Q9NYW1	TA2R9_HUMAN			1	625	-			178			Extracellular (Potential).		Q502V7|Q50KT0|Q50KT1|Q645W9	Missense_Mutation	SNP	ENST00000240691.2	37	c.532T>A	CCDS8633.1	.	.	.	.	.	.	.	.	.	.	A	6.817	0.519785	0.13005	.	.	ENSG00000121381	ENST00000240691	T	0.37915	1.17	4.46	-4.93	0.03066	GPCR, rhodopsin-like superfamily (1);	2.117580	0.02768	U	0.119405	T	0.29749	0.0743	L	0.54863	1.705	0.09310	N	1	B	0.29646	0.253	B	0.33960	0.173	T	0.19844	-1.0293	10	0.31617	T	0.26	.	1.6982	0.02866	0.2402:0.3909:0.0934:0.2754	.	178	Q9NYW1	TA2R9_HUMAN	I	178	ENSP00000240691:F178I	ENSP00000240691:F178I	F	-	1	0	TAS2R9	10853410	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-1.281000	0.02802	-0.490000	0.06707	0.528000	0.53228	TTC		0.378	TAS2R9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399933.1				26	54	0	0	0	0.00632	0	26	54		
SLCO1B3	28234	broad.mit.edu	37	12	21007999	21007999	+	Missense_Mutation	SNP	A	A	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr12:21007999A>T	ENST00000381545.3	+	4	341	c.122A>T	c.(121-123)aAa>aTa	p.K41I	SLCO1B3_ENST00000553473.1_Missense_Mutation_p.K41I|LST3_ENST00000540229.1_Missense_Mutation_p.K41I|LST3_ENST00000381541.3_Missense_Mutation_p.K41I|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.K41I|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.K41I	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	41					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	TATATTGCTAAAGCACTAGGT	0.318																																						uc001rek.2		NaN																	0				large_intestine(2)|ovary(1)|skin(1)	4						c.(121-123)AAA>ATA		solute carrier organic anion transporter family,							85.0	80.0	82.0					12																	21007999		2202	4300	6502	SO:0001583	missense	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21007999A>T		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.122A>T	12.37:g.21007999A>T	ENSP00000370956:p.Lys41Ile					SLCO1B3_uc001rel.2_Missense_Mutation_p.K41I|SLCO1B3_uc010sil.1_Missense_Mutation_p.K41I|LST-3TM12_uc010sim.1_Missense_Mutation_p.K41I	p.K41I	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN			3	248	+	Esophageal squamous(101;0.149)		41			Helical; Name=1; (Potential).		E7EMT8|Q5JAR4	Missense_Mutation	SNP	ENST00000381545.3	37	c.122A>T	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	A	13.14	2.147761	0.37923	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046;ENSG00000257046;ENSG00000205754	ENST00000540853;ENST00000261196;ENST00000381545;ENST00000553473;ENST00000381541;ENST00000540229;ENST00000554957	T;T;T;T;T;T;T	0.79352	0.98;0.98;0.98;0.98;-1.26;0.98;-1.26	3.76	-0.025	0.13937	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.143817	0.64402	D	0.000009	D	0.86306	0.5901	M	0.84846	2.72	0.18873	N	0.999986	D;D;D	0.76494	0.999;0.995;0.993	D;D;D	0.76071	0.987;0.954;0.979	T	0.78994	-0.1984	10	0.87932	D	0	.	9.6766	0.40045	0.7629:0.0:0.2371:0.0	.	41;41;41	F5H094;Q5JAR4;Q9NPD5	.;.;SO1B3_HUMAN	I	41	ENSP00000442000:K41I;ENSP00000261196:K41I;ENSP00000370956:K41I;ENSP00000451758:K41I;ENSP00000370952:K41I;ENSP00000441269:K41I;ENSP00000452013:K41I	ENSP00000370952:K41I	K	+	2	0	SLCO1B3;SLCO1B7;RP11-545J16.1	20899266	0.998000	0.40836	0.000000	0.03702	0.001000	0.01503	3.737000	0.55060	-0.550000	0.06183	-1.811000	0.00612	AAA		0.318	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1		NM_019844		15	20	0	0	0	0.004007	0	15	20		
CAPRIN2	65981	broad.mit.edu	37	12	30863342	30863342	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr12:30863342C>A	ENST00000298892.5	-	17	3478	c.2728G>T	c.(2728-2730)Ggt>Tgt	p.G910C	CAPRIN2_ENST00000395805.2_3'UTR|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.G960C|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.G626C|CAPRIN2_ENST00000417045.1_3'UTR	NM_023925.3	NP_076414.2			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CCAGAGTCACCACTGTTAAAG	0.502																																						uc001rji.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(2878-2880)GGT>TGT		C1q domain containing 1 isoform 1							207.0	213.0	211.0					12																	30863342		2203	4300	6503	SO:0001583	missense	65981				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	g.chr12:30863342C>A	AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000298892.5:c.2728G>T	12.37:g.30863342C>A	ENSP00000298892:p.Gly910Cys					CAPRIN2_uc001rjf.1_3'UTR|CAPRIN2_uc001rjg.1_Missense_Mutation_p.G627C|CAPRIN2_uc001rjh.1_Missense_Mutation_p.G910C|CAPRIN2_uc001rjj.1_Missense_Mutation_p.G626C|CAPRIN2_uc001rjk.3_3'UTR|CAPRIN2_uc001rjl.3_3'UTR	p.G960C	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN			18	3629	-	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		960						Missense_Mutation	SNP	ENST00000298892.5	37	c.2878G>T	CCDS8720.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799046	0.70567	.	.	ENSG00000110888	ENST00000298892;ENST00000251071;ENST00000308433	T;T;T	0.77358	-0.7;-0.78;-1.09	5.7	5.7	0.88788	.	0.490217	0.22835	N	0.055054	T	0.72120	0.3421	N	0.08118	0	0.35692	D	0.814933	D;D	0.65815	0.995;0.989	P;P	0.56474	0.701;0.799	T	0.80455	-0.1375	10	0.66056	D	0.02	-4.347	13.0802	0.59109	0.0:0.9267:0.0:0.0733	.	960;910	Q6IMN6;Q6IMN6-2	CAPR2_HUMAN;.	C	910;960;626	ENSP00000298892:G910C;ENSP00000251071:G960C;ENSP00000309785:G626C	ENSP00000251071:G960C	G	-	1	0	CAPRIN2	30754609	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.917000	0.48821	2.682000	0.91365	0.655000	0.94253	GGT		0.502	CAPRIN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402778.1		NM_023925		153	149	1	0	7.93641e-56	0.01441	1.12365e-55	153	149		
CPNE8	144402	broad.mit.edu	37	12	39071345	39071345	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr12:39071345G>A	ENST00000331366.5	-	17	1379	c.1283C>T	c.(1282-1284)tCt>tTt	p.S428F	CPNE8_ENST00000538596.2_Missense_Mutation_p.S97F|CPNE8_ENST00000360449.3_Missense_Mutation_p.S416F|CPNE8_ENST00000546603.1_5'UTR	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	428	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				ATCCTTTACAGAAGAAGCATA	0.363																																						uc001rls.1		NaN																	0				pancreas(1)	1						c.(1282-1284)TCT>TTT		copine VIII							92.0	80.0	84.0					12																	39071345		2203	4300	6503	SO:0001583	missense	144402							g.chr12:39071345G>A	AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.1283C>T	12.37:g.39071345G>A	ENSP00000329748:p.Ser428Phe					CPNE8_uc001rlr.1_Missense_Mutation_p.S87F	p.S428F	NM_153634	NP_705898	Q86YQ8	CPNE8_HUMAN			17	1367	-	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)	428			VWFA.		Q2TB41|Q86VY2	Missense_Mutation	SNP	ENST00000331366.5	37	c.1283C>T	CCDS8733.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.092009	0.55968	.	.	ENSG00000139117	ENST00000331366;ENST00000538596;ENST00000360449	T;T;T	0.24538	1.85;1.85;1.85	4.72	4.72	0.59763	von Willebrand factor, type A (2);Copine (1);	0.134965	0.52532	D	0.000070	T	0.30166	0.0756	L	0.58583	1.82	0.80722	D	1	B	0.10296	0.003	B	0.15870	0.014	T	0.12941	-1.0528	10	0.72032	D	0.01	-21.1989	17.3378	0.87287	0.0:0.0:1.0:0.0	.	428	Q86YQ8	CPNE8_HUMAN	F	428;97;416	ENSP00000329748:S428F;ENSP00000439237:S97F;ENSP00000353633:S416F	ENSP00000329748:S428F	S	-	2	0	CPNE8	37357612	0.999000	0.42202	0.062000	0.19696	0.947000	0.59692	7.070000	0.76763	2.535000	0.85469	0.650000	0.86243	TCT		0.363	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403856.1		NM_153634		15	29	0	0	0	0.020292	0	15	29		
TMBIM6	7009	broad.mit.edu	37	12	50152022	50152022	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr12:50152022G>A	ENST00000267115.5	+	5	384	c.299G>A	c.(298-300)gGc>gAc	p.G100D	TMBIM6_ENST00000423828.1_Missense_Mutation_p.G158D|TMBIM6_ENST00000549385.1_Missense_Mutation_p.G100D|TMBIM6_ENST00000547798.1_Missense_Mutation_p.G63D|TMBIM6_ENST00000552699.1_Missense_Mutation_p.G158D|TMBIM6_ENST00000395006.4_Missense_Mutation_p.G100D	NM_003217.2	NP_003208.2	P55061	BI1_HUMAN	transmembrane BAX inhibitor motif containing 6	100					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)				lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	6						GTTGGCCTGGGCCCTGCCCTG	0.408																																						uc001rux.2		NaN																	0					0						c.(298-300)GGC>GAC		testis enhanced gene transcript (BAX inhibitor							300.0	293.0	295.0					12																	50152022		2203	4300	6503	SO:0001583	missense	7009				apoptosis|negative regulation of apoptosis	endoplasmic reticulum|insoluble fraction|integral to plasma membrane|nucleus		g.chr12:50152022G>A	X75861	CCDS31797.1, CCDS44875.1	12q13.12	2013-10-08	2008-09-17	2008-09-17	ENSG00000139644	ENSG00000139644			11723	protein-coding gene	gene with protein product	"""BAX inhibitor 1"""	600748	"""testis enhanced gene transcript"""	TEGT		8530040, 9660918	Standard	NM_001098576		Approved	BI-1, BAXI1	uc001ruy.2	P55061	OTTHUMG00000169652	ENST00000267115.5:c.299G>A	12.37:g.50152022G>A	ENSP00000267115:p.Gly100Asp					TMBIM6_uc010sml.1_Missense_Mutation_p.G100D|TMBIM6_uc001ruy.2_Missense_Mutation_p.G158D|TMBIM6_uc001ruz.2_Missense_Mutation_p.G100D	p.G100D	NM_003217	NP_003208	P55061	BI1_HUMAN			5	431	+			100			Helical; (Potential).		B2R5M4|F8W034|O14938|Q643A7|Q96J50	Missense_Mutation	SNP	ENST00000267115.5	37	c.299G>A	CCDS31797.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.954021	0.92660	.	.	ENSG00000139644	ENST00000546796;ENST00000549966;ENST00000547832;ENST00000552699;ENST00000267115;ENST00000541612;ENST00000549385;ENST00000548201;ENST00000423828;ENST00000542631;ENST00000550445;ENST00000552370;ENST00000395006;ENST00000547798	T;T;T;T;T;T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62	5.5	5.5	0.81552	Bax inhibitor 1, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.75722	0.3888	M	0.91140	3.18	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.987;0.998;0.996	T	0.80714	-0.1259	10	0.87932	D	0	.	16.94	0.86215	0.0:0.0:1.0:0.0	.	100;158;100	B7Z984;F8W034;P55061	.;.;BI1_HUMAN	D	100;100;100;158;100;100;100;100;158;100;100;100;100;63	ENSP00000450159:G100D;ENSP00000446668:G100D;ENSP00000448269:G100D;ENSP00000446734:G158D;ENSP00000267115:G100D;ENSP00000448036:G100D;ENSP00000450265:G100D;ENSP00000389277:G158D;ENSP00000449907:G100D;ENSP00000450158:G100D;ENSP00000378454:G100D;ENSP00000447030:G63D	ENSP00000267115:G100D	G	+	2	0	TMBIM6	48438289	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.891000	0.87319	2.861000	0.98227	0.655000	0.94253	GGC		0.408	TMBIM6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405289.1		NM_003217		66	94	0	0	0	0.01441	0	66	94		
KRT83	3889	broad.mit.edu	37	12	52709714	52709714	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr12:52709714C>A	ENST00000293670.3	-	7	1287	c.1225G>T	c.(1225-1227)Gcc>Tcc	p.A409S	AC121757.1_ENST00000594763.1_Intron	NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	409	Coil 2.|Rod.				aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CTGTAGGTGGCGATCTCGATA	0.597																																					GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)	uc001saf.2		NaN																	0				skin(1)	1						c.(1225-1227)GCC>TCC		keratin 83							85.0	77.0	80.0					12																	52709714		2203	4300	6503	SO:0001583	missense	3889				epidermis development	keratin filament	structural molecule activity	g.chr12:52709714C>A	X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6460	protein-coding gene	gene with protein product	"""hard keratin type II"""	602765	"""keratin, hair, basic, 3"""	KRTHB3		9084137, 16831889	Standard	NM_002282		Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.1225G>T	12.37:g.52709714C>A	ENSP00000293670:p.Ala409Ser						p.A409S	NM_002282	NP_002273	P78385	KRT83_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	7	1288	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		409			Rod.|Coil 2.		A1A4S9|B2RC21|Q6NT21|Q9NSB3	Missense_Mutation	SNP	ENST00000293670.3	37	c.1225G>T	CCDS8823.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357874	0.82243	.	.	ENSG00000170523	ENST00000293670	D	0.90504	-2.68	3.84	2.93	0.34026	Filament (1);Intermediate filament protein, conserved site (1);	0.000000	0.41712	U	0.000828	D	0.93497	0.7925	M	0.75884	2.315	0.30658	N	0.754655	P	0.38597	0.639	P	0.54856	0.762	D	0.92061	0.5656	10	0.72032	D	0.01	.	11.9366	0.52876	0.0:0.9113:0.0:0.0887	.	409	P78385	KRT83_HUMAN	S	409	ENSP00000293670:A409S	ENSP00000293670:A409S	A	-	1	0	KRT83	50995981	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.966000	0.56795	0.704000	0.31869	0.563000	0.77884	GCC		0.597	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405182.1		NM_002282		62	68	1	0	1.98135e-44	0.01441	2.72866e-44	62	68		
KRT2	3849	broad.mit.edu	37	12	53039197	53039197	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr12:53039197G>A	ENST00000309680.3	-	9	1547	c.1526C>T	c.(1525-1527)tCa>tTa	p.S509L		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	509	Tail.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		CACATTTGATGAAATGGTGCT	0.537																																						uc001sat.2		NaN																	0				ovary(2)	2						c.(1525-1527)TCA>TTA		keratin 2							130.0	123.0	125.0					12																	53039197		2203	4300	6503	SO:0001583	missense	3849				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:53039197G>A		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.1526C>T	12.37:g.53039197G>A	ENSP00000310861:p.Ser509Leu						p.S509L	NM_000423	NP_000414	P35908	K22E_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.19)	9	1559	-			509			Tail.		Q4VAQ2	Missense_Mutation	SNP	ENST00000309680.3	37	c.1526C>T	CCDS8835.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.884199	0.51908	.	.	ENSG00000172867	ENST00000309680	D	0.91180	-2.8	4.59	4.59	0.56863	.	.	.	.	.	D	0.89065	0.6609	N	0.08118	0	0.21256	N	0.999748	D	0.71674	0.998	D	0.73708	0.981	T	0.81357	-0.0969	9	0.34782	T	0.22	.	13.2617	0.60108	0.0:0.0:1.0:0.0	.	509	P35908	K22E_HUMAN	L	509	ENSP00000310861:S509L	ENSP00000310861:S509L	S	-	2	0	KRT2	51325464	0.994000	0.37717	0.513000	0.27749	0.839000	0.47603	5.133000	0.64764	2.281000	0.76405	0.561000	0.74099	TCA		0.537	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1		NM_000423		68	68	0	0	0	0.01441	0	68	68		
ITGA5	3678	broad.mit.edu	37	12	54799117	54799117	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr12:54799117C>T	ENST00000293379.4	-	12	1319	c.1058G>A	c.(1057-1059)cGg>cAg	p.R353Q	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	353					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						GTCAGGGGTCCGATCCATGAG	0.652																																						uc001sga.2		NaN																	0				ovary(2)	2						c.(1057-1059)CGG>CAG		integrin alpha 5 precursor							30.0	28.0	29.0					12																	54799117		2203	4300	6503	SO:0001583	missense	3678				angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr12:54799117C>T		CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"""CD molecules"", ""Integrins"""	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.1058G>A	12.37:g.54799117C>T	ENSP00000293379:p.Arg353Gln					ITGA5_uc010sow.1_RNA|ITGA5_uc009znp.1_RNA	p.R353Q	NM_002205	NP_002196	P08648	ITA5_HUMAN			12	1126	-			353			Extracellular (Potential).|FG-GAP 5.		Q96HA5	Missense_Mutation	SNP	ENST00000293379.4	37	c.1058G>A	CCDS8880.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.662445	0.88251	.	.	ENSG00000161638	ENST00000293379	T	0.23147	1.92	4.1	4.1	0.47936	.	0.152411	0.42294	D	0.000735	T	0.27967	0.0689	L	0.54908	1.71	0.58432	D	0.999999	D	0.55605	0.972	B	0.43478	0.421	T	0.11518	-1.0584	10	0.54805	T	0.06	.	14.2314	0.65895	0.0:1.0:0.0:0.0	.	353	P08648	ITA5_HUMAN	Q	353	ENSP00000293379:R353Q	ENSP00000293379:R353Q	R	-	2	0	ITGA5	53085384	0.588000	0.26799	0.996000	0.52242	0.793000	0.44817	2.753000	0.47524	2.293000	0.77203	0.561000	0.74099	CGG		0.652	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1				25	12	0	0	0	0.00632	0	25	12		
NCKAP1L	3071	broad.mit.edu	37	12	54911366	54911366	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr12:54911366G>T	ENST00000293373.6	+	12	1224	c.1145G>T	c.(1144-1146)tGg>tTg	p.W382L	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.W332L	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	382					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GAGGTCACCTGGCTGGTTCGC	0.448																																						uc001sgc.3		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(1144-1146)TGG>TTG		NCK-associated protein 1-like							128.0	109.0	115.0					12																	54911366		2203	4300	6503	SO:0001583	missense	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54911366G>T	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.1145G>T	12.37:g.54911366G>T	ENSP00000293373:p.Trp382Leu					NCKAP1L_uc010sox.1_5'UTR|NCKAP1L_uc010soy.1_Missense_Mutation_p.W332L	p.W382L	NM_005337	NP_005328	P55160	NCKPL_HUMAN			12	1224	+			382					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.1145G>T	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	G	33	5.195701	0.94960	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.61859	0.07;0.07	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.78240	0.4252	M	0.81497	2.545	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.80317	-0.1433	10	0.87932	D	0	-7.8807	17.553	0.87881	0.0:0.0:1.0:0.0	.	382	P55160	NCKPL_HUMAN	L	382;332	ENSP00000293373:W382L;ENSP00000445596:W332L	ENSP00000293373:W382L	W	+	2	0	NCKAP1L	53197633	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.552000	0.98115	2.747000	0.94245	0.462000	0.41574	TGG		0.448	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1		NM_005337		42	43	1	0	3.86236e-30	0.01441	5.11602e-30	42	43		
TESPA1	9840	broad.mit.edu	37	12	55357674	55357674	+	Silent	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr12:55357674G>T	ENST00000449076.1	-	8	639	c.507C>A	c.(505-507)ggC>ggA	p.G169G	TESPA1_ENST00000531122.1_Silent_p.G31G|TESPA1_ENST00000316577.8_Silent_p.G169G|TESPA1_ENST00000524959.1_5'UTR|TESPA1_ENST00000532804.1_Silent_p.G31G|TESPA1_ENST00000524622.1_Silent_p.G31G	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	169					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)											CTTGGCCAAAGCCCAGACTGA	0.478																																						uc001sgn.3		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(505-507)GGC>GGA		hypothetical protein LOC9840							162.0	158.0	159.0					12																	55357674		1894	4118	6012	SO:0001819	synonymous_variant	9840							g.chr12:55357674G>T	AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"""KIAA0748"""	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.507C>A	12.37:g.55357674G>T						KIAA0748_uc001sgl.3_Silent_p.G31G|KIAA0748_uc001sgm.3_5'UTR|KIAA0748_uc010spb.1_5'UTR|KIAA0748_uc010spc.1_Silent_p.G31G|KIAA0748_uc010spd.1_Silent_p.G169G|KIAA0748_uc001sgo.3_Intron	p.G169G	NM_001098815	NP_001092285	A2RU30	K0748_HUMAN			8	617	-			169					B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Silent	SNP	ENST00000449076.1	37	c.507C>A	CCDS44913.1																																																																																				0.478	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383822.1		NM_001098815		68	64	1	0	7.07328e-35	0.01441	9.50526e-35	68	64		
PMEL	6490	broad.mit.edu	37	12	56349451	56349451	+	Missense_Mutation	SNP	A	A	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr12:56349451A>C	ENST00000548747.1	-	9	2221	c.1559T>G	c.(1558-1560)cTg>cGg	p.L520R	PMEL_ENST00000536427.1_Missense_Mutation_p.L478R|PMEL_ENST00000548493.1_Missense_Mutation_p.L520R|PMEL_ENST00000539511.1_Missense_Mutation_p.L434R|PMEL_ENST00000548689.1_5'Flank|PMEL_ENST00000550464.1_Missense_Mutation_p.L434R|PMEL_ENST00000360714.4_Missense_Mutation_p.L520R|PMEL_ENST00000550447.1_Missense_Mutation_p.L149R|PMEL_ENST00000449260.2_Missense_Mutation_p.L520R|PMEL_ENST00000552882.1_Missense_Mutation_p.L520R			P40967	PMEL_HUMAN	premelanosome protein	520					melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTCCTTGGGCAGCCTGGAAGA	0.577																																						uc001sip.2		NaN																	0					0						c.(1558-1560)CTG>CGG		silver homolog							45.0	50.0	49.0					12																	56349451		2203	4300	6503	SO:0001583	missense	6490				melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding	g.chr12:56349451A>C	AK092881	CCDS8897.1, CCDS55833.1, CCDS55834.1	12q13-q14	2010-12-17	2010-12-17	2010-12-17	ENSG00000185664	ENSG00000185664			10880	protein-coding gene	gene with protein product		155550	"""silver (mouse homolog) like"", ""silver homolog (mouse)"""	SIL, SILV		8739560	Standard	NM_001200053		Approved	D12S53E, SI, Pmel17, gp100	uc001siq.3	P40967		ENST00000548747.1:c.1559T>G	12.37:g.56349451A>C	ENSP00000448828:p.Leu520Arg					SILV_uc001siq.2_Missense_Mutation_p.L520R|SILV_uc010spx.1_Missense_Mutation_p.L434R|SILV_uc001sir.2_Missense_Mutation_p.L520R	p.L520R	NM_006928	NP_008859	P40967	PMEL_HUMAN			9	1590	-			520			Lumenal (Potential).		B3KS57|B7Z6D7|Q12763|Q14448|Q14817|Q16565	Missense_Mutation	SNP	ENST00000548747.1	37	c.1559T>G	CCDS8897.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.039593	0.75732	.	.	ENSG00000185664	ENST00000449260;ENST00000552882;ENST00000550464;ENST00000548747;ENST00000548493;ENST00000360714;ENST00000536427;ENST00000539511;ENST00000550447	T;T;T;T;T;T;T;T	0.17213	2.68;2.8;2.79;2.8;2.8;2.69;2.29;2.79	5.7	5.7	0.88788	.	0.000000	0.46442	D	0.000294	T	0.38825	0.1055	M	0.61703	1.905	0.47037	D	0.999293	D;D;D	0.69078	0.987;0.997;0.994	D;D;P	0.67231	0.921;0.95;0.883	T	0.13710	-1.0499	10	0.87932	D	0	-4.9009	15.2648	0.73651	1.0:0.0:0.0:0.0	.	434;520;520	P40967-3;P40967-2;P40967	.;.;PMEL_HUMAN	R	520;520;434;520;520;520;478;434;149	ENSP00000402758:L520R;ENSP00000449690:L520R;ENSP00000450036:L434R;ENSP00000448828:L520R;ENSP00000447374:L520R;ENSP00000353940:L520R;ENSP00000438695:L478R;ENSP00000445005:L434R	ENSP00000353940:L520R	L	-	2	0	PMEL	54635718	1.000000	0.71417	1.000000	0.80357	0.618000	0.37518	8.718000	0.91430	2.308000	0.77769	0.533000	0.62120	CTG		0.577	PMEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409626.1		NM_006928		30	42	0	0	0	0.012213	0	30	42		
IL23A	51561	broad.mit.edu	37	12	56733306	56733306	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr12:56733306C>T	ENST00000228534.4	+	2	425	c.259C>T	c.(259-261)Cag>Tag	p.Q87*	STAT2_ENST00000556539.1_5'Flank	NM_016584.2	NP_057668.1	Q9NPF7	IL23A_HUMAN	interleukin 23, alpha subunit p19	87					defense response to Gram-negative bacterium (GO:0050829)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|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 inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|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 activation (GO:0032816)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of NK T cell proliferation (GO:0051142)|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 tissue remodeling (GO:0034105)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|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)|T cell proliferation (GO:0042098)|tissue remodeling (GO:0048771)	interleukin-23 complex (GO:0070743)				kidney(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	5						GGACAACAGTCAGGTACCACT	0.493																																						uc001sla.2		NaN																	0					0						c.(259-261)CAG>TAG		interleukin 23, alpha subunit p19 precursor							79.0	66.0	71.0					12																	56733306		2203	4300	6503	SO:0001587	stop_gained	51561				defense response to Gram-negative bacterium|inflammatory response|innate immune response|negative regulation of interleukin-10 production|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast 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|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to virus|tissue remodeling	interleukin-23 complex	cytokine activity	g.chr12:56733306C>T	AB030000	CCDS8916.1	12q13.13	2011-07-15				ENSG00000110944		"""Interleukins and interleukin receptors"""	15488	protein-coding gene	gene with protein product	"""interleukin-six, G-CSF related factor"""	605580				11114383	Standard	NM_016584		Approved	SGRF, IL23P19, IL-23, IL-23A, P19	uc001sla.3	Q9NPF7		ENST00000228534.4:c.259C>T	12.37:g.56733306C>T	ENSP00000228534:p.Gln87*						p.Q87*	NM_016584	NP_057668	Q9NPF7	IL23A_HUMAN			2	425	+			87					Q6NZ80|Q6NZ82|Q9H2A5	Nonsense_Mutation	SNP	ENST00000228534.4	37	c.259C>T	CCDS8916.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.580169	0.86645	.	.	ENSG00000110944	ENST00000228534	.	.	.	5.73	4.79	0.61399	.	0.226096	0.31427	N	0.007679	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-9.7389	12.2248	0.54453	0.0:0.8291:0.1709:0.0	.	.	.	.	X	87	.	ENSP00000228534:Q87X	Q	+	1	0	IL23A	55019573	0.996000	0.38824	1.000000	0.80357	0.943000	0.58893	1.094000	0.30951	2.882000	0.98803	0.655000	0.94253	CAG		0.493	IL23A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_016584		25	28	0	0	0	0.004656	0	25	28		
PIP4K2C	79837	broad.mit.edu	37	12	57989742	57989742	+	Silent	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr12:57989742G>C	ENST00000354947.5	+	4	457	c.441G>C	c.(439-441)cgG>cgC	p.R147R	PIP4K2C_ENST00000540759.2_Silent_p.R147R|PIP4K2C_ENST00000550465.1_Silent_p.R129R|PIP4K2C_ENST00000422156.3_Intron			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	147	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					CCTACGATCGGACTCTGGTCA	0.522																																						uc001sou.2		NaN																	0				central_nervous_system(2)|lung(1)	3						c.(439-441)CGG>CGC		phosphatidylinositol-5-phosphate 4-kinase, type							184.0	159.0	168.0					12																	57989742		2203	4300	6503	SO:0001819	synonymous_variant	79837					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding	g.chr12:57989742G>C	AK125526	CCDS8946.1, CCDS53808.1, CCDS55839.1	12q13.3	2014-09-04	2007-08-14	2007-08-14	ENSG00000166908	ENSG00000166908			23786	protein-coding gene	gene with protein product			"""phosphatidylinositol-4-phosphate 5-kinase, type II, gamma"""	PIP5K2C		9367159	Standard	NM_024779		Approved	FLJ22055	uc001sot.3	Q8TBX8	OTTHUMG00000170144	ENST00000354947.5:c.441G>C	12.37:g.57989742G>C						PIP4K2C_uc001sot.2_Silent_p.R147R|PIP4K2C_uc010srs.1_Silent_p.R129R|PIP4K2C_uc010srt.1_Intron	p.R147R	NM_001146258	NP_001139730	Q8TBX8	PI42C_HUMAN			4	572	+	Melanoma(17;0.122)		147			PIPK.		B2RDL3|B4DM11|B4DY44|Q9H6N2	Silent	SNP	ENST00000354947.5	37	c.441G>C	CCDS8946.1																																																																																				0.522	PIP4K2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407644.1		NM_024779		52	85	0	0	0	0.01441	0	52	85		
BEST3	144453	broad.mit.edu	37	12	70070774	70070774	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr12:70070774G>A	ENST00000330891.5	-	7	1015	c.789C>T	c.(787-789)ggC>ggT	p.G263G	BEST3_ENST00000331471.4_Silent_p.G263G|BEST3_ENST00000488961.1_Intron|BEST3_ENST00000476098.1_Intron|BEST3_ENST00000553096.1_Silent_p.G157G	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	263					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GCCCTGCGTAGCCTTTGGTGG	0.502																																						uc001svg.2		NaN																	0					0						c.(787-789)GGC>GGT		vitelliform macular dystrophy 2-like 3 isoform							107.0	105.0	106.0					12																	70070774		1986	4165	6151	SO:0001819	synonymous_variant	144453					chloride channel complex|plasma membrane	chloride channel activity	g.chr12:70070774G>A	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.789C>T	12.37:g.70070774G>A						BEST3_uc001svd.1_Silent_p.G263G|BEST3_uc001sve.1_Intron|BEST3_uc001svf.2_Intron|BEST3_uc010stm.1_Silent_p.G157G|BEST3_uc001svh.2_Intron	p.G263G	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		7	1016	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		263			Extracellular (Potential).		B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Silent	SNP	ENST00000330891.5	37	c.789C>T	CCDS8992.2																																																																																				0.502	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2		NM_152439		59	49	0	0	0	0.01441	0	59	49		
PPFIA2	8499	broad.mit.edu	37	12	81688795	81688795	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr12:81688795G>A	ENST00000549396.1	-	24	2904	c.2744C>T	c.(2743-2745)gCg>gTg	p.A915V	PPFIA2_ENST00000407050.4_Missense_Mutation_p.A841V|PPFIA2_ENST00000548586.1_Missense_Mutation_p.A915V|PPFIA2_ENST00000541570.2_Missense_Mutation_p.A482V|PPFIA2_ENST00000550359.2_Missense_Mutation_p.A762V|PPFIA2_ENST00000550584.2_Missense_Mutation_p.A915V|PPFIA2_ENST00000443686.3_Missense_Mutation_p.A816V|PPFIA2_ENST00000333447.7_Missense_Mutation_p.A900V|PPFIA2_ENST00000541017.1_Missense_Mutation_p.A132V|PPFIA2_ENST00000549325.1_Missense_Mutation_p.A900V|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000552948.1_Missense_Mutation_p.A915V|RP11-121G22.3_ENST00000549161.1_lincRNA	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	915	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CACGTACCACGCAGGCATTCC	0.398																																						uc001szo.1		NaN																	0				ovary(3)|lung(2)|pancreas(1)	6						c.(2743-2745)GCG>GTG		PTPRF interacting protein alpha 2							61.0	59.0	60.0					12																	81688795		2094	4268	6362	SO:0001583	missense	8499							g.chr12:81688795G>A	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.2744C>T	12.37:g.81688795G>A	ENSP00000450337:p.Ala915Val					PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	p.A915V	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN			24	2905	-			841					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.2744C>T	CCDS55857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.1|27.1	4.804750|4.804750	0.90623|0.90623	.|.	.|.	ENSG00000139220|ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948|ENST00000550018	T;T;T;T;T;T;T;T;T|.	0.51817|.	0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69|.	5.62|5.62	5.62|5.62	0.85841|0.85841	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72277|0.72277	0.3440|0.3440	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.72338|.	0.977|.	T|T	0.68296|0.68296	-0.5446|-0.5446	10|5	0.72032|.	D|.	0.01|.	-12.4495|-12.4495	19.6517|19.6517	0.95819|0.95819	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	915|.	O75334|.	LIPA2_HUMAN|.	V|C	915;900;482;132;841;926;900;915;816;915|49	ENSP00000450337:A915V;ENSP00000450298:A900V;ENSP00000438337:A482V;ENSP00000445532:A132V;ENSP00000385093:A841V;ENSP00000327416:A900V;ENSP00000449338:A915V;ENSP00000388373:A816V;ENSP00000447868:A915V|.	ENSP00000327416:A900V|.	A|R	-|-	2|1	0|0	PPFIA2|PPFIA2	80212926|80212926	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.707000|0.707000	0.40811|0.40811	9.869000|9.869000	0.99810|0.99810	2.662000|2.662000	0.90505|0.90505	0.655000|0.655000	0.94253|0.94253	GCG|CGT		0.398	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1				8	28	0	0	0	0.004482	0	8	28		
CEP290	80184	broad.mit.edu	37	12	88530508	88530508	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr12:88530508C>T	ENST00000552810.1	-	6	696	c.353G>A	c.(352-354)tGc>tAc	p.C118Y	CEP290_ENST00000309041.7_Missense_Mutation_p.C118Y	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	118					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TTCAAGTTGGCAAATTTCATT	0.338																																						uc001tar.2		NaN																	0				ovary(5)|breast(1)|pancreas(1)	7						c.(352-354)TGC>TAC		centrosomal protein 290kDa							142.0	132.0	135.0					12																	88530508		1829	4091	5920	SO:0001583	missense	80184				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	g.chr12:88530508C>T	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.353G>A	12.37:g.88530508C>T	ENSP00000448012:p.Cys118Tyr					CEP290_uc009zsl.1_RNA	p.C118Y	NM_025114	NP_079390	O15078	CE290_HUMAN			6	697	-			118			Potential.		Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	c.353G>A	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.705636	0.48412	.	.	ENSG00000198707	ENST00000552810;ENST00000309041;ENST00000536998;ENST00000545139;ENST00000550962;ENST00000552770	T;T;D	0.85556	-0.0;-0.0;-2.0	5.33	5.33	0.75918	.	0.204064	0.42682	D	0.000665	T	0.72020	0.3409	N	0.08118	0	0.80722	D	1	B	0.15141	0.012	B	0.17722	0.019	T	0.68006	-0.5523	10	0.39692	T	0.17	.	13.3461	0.60573	0.0:0.9239:0.0:0.0761	.	118	O15078	CE290_HUMAN	Y	118;118;118;20;118;60	ENSP00000448012:C118Y;ENSP00000308021:C118Y;ENSP00000447623:C118Y	ENSP00000308021:C118Y	C	-	2	0	CEP290	87054639	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.824000	0.39072	2.479000	0.83701	0.557000	0.71058	TGC		0.338	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1		NM_025114		20	38	0	0	0	0.007413	0	20	38		
FGD6	55785	broad.mit.edu	37	12	95485582	95485582	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr12:95485582C>T	ENST00000343958.4	-	17	3974	c.3751G>A	c.(3751-3753)Gta>Ata	p.V1251I	FGD6_ENST00000546711.1_Missense_Mutation_p.V1251I	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	1251					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						GCTTGGCATACAATCTGAAAA	0.328																																						uc001tdp.3		NaN																	0				ovary(2)|breast(1)	3						c.(3751-3753)GTA>ATA		FYVE, RhoGEF and PH domain containing 6							90.0	82.0	85.0					12																	95485582		2203	4300	6503	SO:0001583	missense	55785				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:95485582C>T	AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.3751G>A	12.37:g.95485582C>T	ENSP00000344446:p.Val1251Ile					FGD6_uc009zsx.2_Missense_Mutation_p.V384I|FGD6_uc001tdq.1_Missense_Mutation_p.V287I	p.V1251I	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN			17	3975	-			1251			FYVE-type.		Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	37	c.3751G>A	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.000839	0.54254	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000551521	T;T;T	0.74002	-0.8;-0.8;-0.8	5.4	5.4	0.78164	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);	0.000000	0.42964	D	0.000629	T	0.79293	0.4421	L	0.55743	1.74	0.41274	D	0.986863	D;D	0.58970	0.966;0.984	P;P	0.60949	0.881;0.615	T	0.78173	-0.2307	10	0.41790	T	0.15	-18.1559	10.1121	0.42568	0.0:0.8506:0.0:0.1494	.	1251;1251	Q6ZV73-2;Q6ZV73	.;FGD6_HUMAN	I	1251;1251;247	ENSP00000344446:V1251I;ENSP00000450342:V1251I;ENSP00000450240:V247I	ENSP00000344446:V1251I	V	-	1	0	FGD6	94009713	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.078000	0.50096	2.685000	0.91497	0.561000	0.74099	GTA		0.328	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1		NM_018351		9	25	0	0	0	0.004482	0	9	25		
PAH	5053	broad.mit.edu	37	12	103288653	103288653	+	Missense_Mutation	SNP	C	C	T	rs62508695|rs281865431|rs199475570		TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr12:103288653C>T	ENST00000553106.1	-	3	684	c.212G>A	c.(211-213)cGt>cAt	p.R71H	PAH_ENST00000551988.1_5'UTR|PAH_ENST00000307000.2_Missense_Mutation_p.R66H	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	71	ACT. {ECO:0000255|PROSITE- ProRule:PRU01007}.				catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	TTTCTTTAAACGAGAAGGTCT	0.443																																						uc001tjq.1		NaN																	0				ovary(4)	4	GRCh37	CM992650	PAH	M	rs62508695	c.(211-213)CGT>CAT		phenylalanine hydroxylase	Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)						139.0	130.0	133.0					12																	103288653		2203	4300	6503	SO:0001583	missense	5053				catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity	g.chr12:103288653C>T	U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"""phenylalanine 4-monooxygenase"""	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.212G>A	12.37:g.103288653C>T	ENSP00000448059:p.Arg71His					PAH_uc010swc.1_Missense_Mutation_p.R71H	p.R71H	NM_000277	NP_000268	P00439	PH4H_HUMAN			4	684	-			71			ACT.		Q16717|Q8TC14	Missense_Mutation	SNP	ENST00000553106.1	37	c.212G>A	CCDS9092.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.105412	0.56291	.	.	ENSG00000171759	ENST00000553106;ENST00000307000;ENST00000551337;ENST00000546844	D;D;D;D	0.99129	-5.46;-5.46;-5.46;-5.46	6.17	4.22	0.49857	Amino acid-binding ACT (1);	0.097251	0.64402	D	0.000001	D	0.98554	0.9517	M	0.79805	2.47	0.80722	D	1	P;P	0.50710	0.789;0.938	B;P	0.48840	0.084;0.592	D	0.98440	1.0586	10	0.59425	D	0.04	-10.5888	12.491	0.55899	0.1407:0.7917:0.0:0.0676	rs62508695	71;71	B4DPN2;P00439	.;PH4H_HUMAN	H	71;66;71;71	ENSP00000448059:R71H;ENSP00000303500:R66H;ENSP00000447620:R71H;ENSP00000446658:R71H	ENSP00000303500:R66H	R	-	2	0	PAH	101812783	0.995000	0.38212	0.517000	0.27799	0.995000	0.86356	3.363000	0.52321	1.625000	0.50366	0.655000	0.94253	CGT		0.443	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1				23	89	0	0	0	0.016522	0	23	89		
HSP90B1	7184	broad.mit.edu	37	12	104327817	104327817	+	Silent	SNP	C	C	T	rs144387251	byFrequency	TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr12:104327817C>T	ENST00000299767.5	+	5	677	c.495C>T	c.(493-495)acC>acT	p.T165T		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	165					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	ACCTTGGTACCATAGCCAAAT	0.438																																						uc001tkb.1		NaN																	0				ovary(2)|skin(1)	3						c.(493-495)ACC>ACT		heat shock protein 90kDa beta, member 1	Rifabutin(DB00615)						93.0	90.0	91.0					12																	104327817		2203	4300	6503	SO:0001819	synonymous_variant	7184				actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding	g.chr12:104327817C>T	AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"""Heat shock proteins / HSPC"""	12028	protein-coding gene	gene with protein product		191175	"""tumor rejection antigen (gp96) 1"""	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.495C>T	12.37:g.104327817C>T						HSP90B1_uc010swg.1_Intron|HSP90B1_uc009zui.1_Silent_p.T165T	p.T165T	NM_003299	NP_003290	P14625	ENPL_HUMAN			5	600	+			165					Q96A97	Silent	SNP	ENST00000299767.5	37	c.495C>T	CCDS9094.1																																																																																				0.438	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1		NM_003299		31	50	0	0	0	0.012213	0	31	50		
ALDH1L2	160428	broad.mit.edu	37	12	105459055	105459055	+	Missense_Mutation	SNP	A	A	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr12:105459055A>T	ENST00000258494.9	-	6	916	c.776T>A	c.(775-777)aTa>aAa	p.I259K	ALDH1L2_ENST00000424857.2_Missense_Mutation_p.I259K	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	259					10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						CTGTCCATTTATCTCTGTCCA	0.458																																						uc001tlc.2		NaN																	0				skin(1)	1						c.(775-777)ATA>AAA		aldehyde dehydrogenase 1 family, member L2							99.0	87.0	91.0					12																	105459055		2203	4300	6503	SO:0001583	missense	160428				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding	g.chr12:105459055A>T	AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"""Aldehyde dehydrogenases"""	26777	protein-coding gene	gene with protein product	"""mitochondrial 10-formyltetrahydrofolate dehydrogenase"""	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.776T>A	12.37:g.105459055A>T	ENSP00000258494:p.Ile259Lys					ALDH1L2_uc009zuo.2_5'UTR|ALDH1L2_uc009zup.2_RNA	p.I259K	NM_001034173	NP_001029345	Q3SY69	AL1L2_HUMAN			6	903	-			259					Q3SY68|Q68D62|Q6AI55|Q8N922	Missense_Mutation	SNP	ENST00000258494.9	37	c.776T>A	CCDS31891.1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.905942	0.92107	.	.	ENSG00000136010	ENST00000258494;ENST00000424857	T;T	0.45668	0.89;0.89	5.71	5.71	0.89125	Formyl transferase, C-terminal-like (1);Formyl transferase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.60405	0.2266	M	0.76433	2.335	0.80722	D	1	P	0.49447	0.924	P	0.55455	0.776	T	0.65129	-0.6243	10	0.87932	D	0	.	15.9788	0.80091	1.0:0.0:0.0:0.0	.	259	Q3SY69	AL1L2_HUMAN	K	259	ENSP00000258494:I259K;ENSP00000389608:I259K	ENSP00000258494:I259K	I	-	2	0	ALDH1L2	103983185	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	8.873000	0.92357	2.169000	0.68431	0.533000	0.62120	ATA		0.458	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1		XM_090294		32	51	0	0	0	0.012213	0	32	51		
PITPNM2	57605	broad.mit.edu	37	12	123481053	123481053	+	Silent	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr12:123481053C>A	ENST00000542749.1	-	11	1797	c.1734G>T	c.(1732-1734)gtG>gtT	p.V578V	PITPNM2_ENST00000320201.4_Silent_p.V578V|PITPNM2_ENST00000280562.5_Silent_p.V578V|PITPNM2_ENST00000392428.1_Silent_p.V299V			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	578					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GACTCTCAGACACCGGCTGGT	0.652																																						uc001uej.1		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1732-1734)GTG>GTT		phosphatidylinositol transfer protein,							36.0	35.0	35.0					12																	123481053		2203	4300	6503	SO:0001819	synonymous_variant	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123481053C>A	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.1734G>T	12.37:g.123481053C>A						PITPNM2_uc001uek.1_Silent_p.V578V	p.V578V	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	12	1873	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		578					Q9P271	Silent	SNP	ENST00000542749.1	37	c.1734G>T	CCDS9242.1																																																																																				0.652	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1		NM_020845		23	48	1	0	1.1804e-14	0.021523	1.35917e-14	23	48		
XPO4	64328	broad.mit.edu	37	13	21374421	21374421	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr13:21374421C>T	ENST00000255305.6	-	15	2092	c.2021G>A	c.(2020-2022)gGt>gAt	p.G674D	XPO4_ENST00000400602.2_Missense_Mutation_p.G674D			Q9C0E2	XPO4_HUMAN	exportin 4	674					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		CCACTGAGAACCCTCTGTATC	0.413																																						uc001unq.3		NaN																	0				large_intestine(1)|ovary(1)|kidney(1)	3						c.(2020-2022)GGT>GAT		exportin 4							133.0	123.0	126.0					13																	21374421		1948	4159	6107	SO:0001583	missense	64328				protein transport	cytoplasm|nucleus	protein binding	g.chr13:21374421C>T	AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"""Exportins"""	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.2021G>A	13.37:g.21374421C>T	ENSP00000255305:p.Gly674Asp						p.G674D	NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)	15	2057	-		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	674					Q5VUZ5|Q8N3V6|Q9H934	Missense_Mutation	SNP	ENST00000255305.6	37	c.2021G>A	CCDS41872.1	.	.	.	.	.	.	.	.	.	.	C	33	5.232319	0.95207	.	.	ENSG00000132953	ENST00000400602;ENST00000456108;ENST00000255305	T;T	0.53423	0.62;0.62	5.71	5.71	0.89125	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65417	0.2689	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	T	0.56733	-0.7930	10	0.14252	T	0.57	-7.9381	19.8505	0.96738	0.0:1.0:0.0:0.0	.	674	Q9C0E2	XPO4_HUMAN	D	674;544;674	ENSP00000383444:G674D;ENSP00000255305:G674D	ENSP00000255305:G674D	G	-	2	0	XPO4	20272421	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.190000	0.77755	2.688000	0.91661	0.655000	0.94253	GGT		0.413	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1		NM_022459		40	45	0	0	0	0.010771	0	40	45		
KL	9365	broad.mit.edu	37	13	33591101	33591101	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr13:33591101C>G	ENST00000380099.3	+	1	531	c.523C>G	c.(523-525)Cgc>Ggc	p.R175G	KL_ENST00000426690.2_Intron|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	175	Glycosyl hydrolase-1 1.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CTACTACCGGCGCCTGCTGGA	0.726																																						uc001uus.2		NaN																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(523-525)CGC>GGC		klotho precursor							7.0	8.0	8.0					13																	33591101		2024	4030	6054	SO:0001583	missense	9365				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33591101C>G	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.523C>G	13.37:g.33591101C>G	ENSP00000369442:p.Arg175Gly					KL_uc001uur.1_Intron	p.R175G	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	1	531	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	175			Glycosyl hydrolase-1 1.|Extracellular (Potential).		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Missense_Mutation	SNP	ENST00000380099.3	37	c.523C>G	CCDS9347.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.253054	0.39797	.	.	ENSG00000133116	ENST00000380099	T	0.32023	1.47	4.05	4.05	0.47172	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.324362	0.30269	N	0.010009	T	0.34948	0.0915	M	0.74467	2.265	0.30552	N	0.765343	P	0.38048	0.616	B	0.40741	0.339	T	0.40117	-0.9580	10	0.40728	T	0.16	-14.4881	9.0366	0.36291	0.1432:0.63:0.2268:0.0	.	175	Q9UEF7	KLOT_HUMAN	G	175	ENSP00000369442:R175G	ENSP00000369442:R175G	R	+	1	0	KL	32489101	0.000000	0.05858	1.000000	0.80357	0.972000	0.66771	0.203000	0.17315	2.085000	0.62840	0.462000	0.41574	CGC		0.726	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1				11	16	0	0	0	0.013537	0	11	16		
LRCH1	23143	broad.mit.edu	37	13	47243194	47243194	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr13:47243194G>C	ENST00000389798.3	+	3	679	c.482G>C	c.(481-483)tGc>tCc	p.C161S	LRCH1_ENST00000311191.6_Missense_Mutation_p.C161S|LRCH1_ENST00000389797.3_Missense_Mutation_p.C161S	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	161								p.C161>?(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		CTGCCTGCCTGCCTGTGTGGT	0.443																																						uc001vbj.2		NaN																	1	Complex(1)		skin(1)	ovary(1)|central_nervous_system(1)	2						c.(481-483)TGC>TCC		leucine-rich repeats and calponin homology (CH)							170.0	159.0	163.0					13																	47243194		2203	4300	6503	SO:0001583	missense	23143							g.chr13:47243194G>C	AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"""calponin homology (CH) domain containing 1"""	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.482G>C	13.37:g.47243194G>C	ENSP00000374448:p.Cys161Ser					LRCH1_uc010acp.2_Missense_Mutation_p.C161S|LRCH1_uc001vbk.2_Missense_Mutation_p.C161S|LRCH1_uc001vbl.3_Missense_Mutation_p.C161S	p.C161S	NM_015116	NP_055931	Q9Y2L9	LRCH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)	3	718	+		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	161			LRR 3.		B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Missense_Mutation	SNP	ENST00000389798.3	37	c.482G>C	CCDS31972.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.735243	0.30774	.	.	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797	T;T;T	0.26518	1.73;1.73;1.73	5.98	4.16	0.48862	.	0.097668	0.64402	D	0.000001	T	0.05960	0.0155	N	0.00223	-1.815	0.58432	D	0.999997	B;B;B;B	0.29590	0.129;0.25;0.204;0.004	B;B;B;B	0.28709	0.043;0.093;0.093;0.002	T	0.27839	-1.0062	10	0.21014	T	0.42	-2.9469	10.6544	0.45667	0.0713:0.1326:0.7962:0.0	.	161;161;161;161	Q17R43;Q9Y2L9-2;F8W6F0;Q9Y2L9	.;.;.;LRCH1_HUMAN	S	161	ENSP00000308493:C161S;ENSP00000374448:C161S;ENSP00000374447:C161S	ENSP00000308493:C161S	C	+	2	0	LRCH1	46141195	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.709000	0.47160	1.544000	0.49359	0.655000	0.94253	TGC		0.443	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2		NM_015116		82	107	0	0	0	0.01441	0	82	107		
NEK5	341676	broad.mit.edu	37	13	52663442	52663442	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr13:52663442C>T	ENST00000355568.4	-	14	1355	c.1216G>A	c.(1216-1218)Gag>Aag	p.E406K		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	406					positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		TGAAGGTACTCAGCAGGCCTT	0.333																																						uc001vge.2		NaN																	0				upper_aerodigestive_tract(1)	1						c.(1216-1218)GAG>AAG		NIMA-related kinase 5							61.0	60.0	60.0					13																	52663442		2202	4299	6501	SO:0001583	missense	341676						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr13:52663442C>T	BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)-related kinase 5"""			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.1216G>A	13.37:g.52663442C>T	ENSP00000347767:p.Glu406Lys						p.E406K	NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN		GBM - Glioblastoma multiforme(99;3.7e-08)	14	1356	-		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	406					Q5TAP5	Missense_Mutation	SNP	ENST00000355568.4	37	c.1216G>A	CCDS31979.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.832096	0.91036	.	.	ENSG00000197168	ENST00000355568	T	0.74526	-0.85	5.81	5.81	0.92471	.	0.442835	0.22326	N	0.061524	T	0.78792	0.4339	L	0.54323	1.7	0.28518	N	0.91321	D	0.62365	0.991	P	0.53760	0.734	T	0.73020	-0.4114	10	0.30854	T	0.27	.	16.7914	0.85590	0.0:1.0:0.0:0.0	.	406	Q6P3R8	NEK5_HUMAN	K	406	ENSP00000347767:E406K	ENSP00000347767:E406K	E	-	1	0	NEK5	51561443	0.996000	0.38824	0.961000	0.40146	0.969000	0.65631	3.938000	0.56583	2.757000	0.94681	0.505000	0.49811	GAG		0.333	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3		NM_199289		8	14	0	0	0	0.00308	0	8	14		
DIAPH3	81624	broad.mit.edu	37	13	60686272	60686272	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr13:60686272G>A	ENST00000400324.4	-	3	482	c.262C>T	c.(262-264)Cct>Tct	p.P88S	DIAPH3_ENST00000400330.1_Missense_Mutation_p.P88S|DIAPH3_ENST00000400320.1_Missense_Mutation_p.P77S|DIAPH3_ENST00000377908.2_Missense_Mutation_p.P77S|DIAPH3_ENST00000267215.4_Missense_Mutation_p.P88S|DIAPH3_ENST00000400319.1_Intron	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	88					actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		GGAAGTGGAGGTCTCTCTTTC	0.438																																						uc001vht.2		NaN																	0				ovary(2)	2						c.(262-264)CCT>TCT		diaphanous homolog 3 isoform a							206.0	191.0	196.0					13																	60686272		1854	4119	5973	SO:0001583	missense	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60686272G>A	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.262C>T	13.37:g.60686272G>A	ENSP00000383178:p.Pro88Ser					DIAPH3_uc001vhw.1_Missense_Mutation_p.P77S|DIAPH3_uc010aed.1_Missense_Mutation_p.P77S|DIAPH3_uc010aee.1_Intron	p.P88S	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	3	481	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	88					A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	ENST00000400324.4	37	c.262C>T	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.920766	0.52653	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000377908;ENST00000400320;ENST00000267215;ENST00000453990	D;D;D;D;D	0.87334	-1.52;-1.52;-1.52;-2.24;-1.5	5.82	4.1	0.47936	.	0.291515	0.32687	N	0.005766	T	0.81297	0.4793	L	0.49126	1.545	0.36120	D	0.845412	B;B;B	0.33964	0.434;0.265;0.014	B;B;B	0.29176	0.099;0.08;0.007	T	0.80395	-0.1400	10	0.37606	T	0.19	.	10.2497	0.43362	0.0712:0.0:0.7927:0.1361	.	77;77;88	C9JL55;C9JDG1;Q9NSV4	.;.;DIAP3_HUMAN	S	88;88;77;77;77;77;88;88	ENSP00000383178:P88S;ENSP00000383184:P88S;ENSP00000367141:P77S;ENSP00000383174:P77S;ENSP00000267215:P88S	ENSP00000267215:P88S	P	-	1	0	DIAPH3	59584273	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.307000	0.51888	0.817000	0.34445	0.655000	0.94253	CCT		0.438	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3		NM_001042517		97	129	0	0	0	0.01441	0	97	129		
DZIP1	22873	broad.mit.edu	37	13	96277135	96277135	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr13:96277135C>G	ENST00000376829.2	-	8	1710	c.859G>C	c.(859-861)Gac>Cac	p.D287H	DZIP1_ENST00000361156.3_Missense_Mutation_p.D287H|DZIP1_ENST00000347108.3_Missense_Mutation_p.D287H|DZIP1_ENST00000361396.2_Missense_Mutation_p.D287H	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	287					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TTCCACCTGTCAAATAACTTC	0.294																																						uc001vmk.2		NaN																	0				ovary(2)	2						c.(859-861)GAC>CAC		DAZ interacting protein 1 isoform 2							98.0	92.0	94.0					13																	96277135		2200	4299	6499	SO:0001583	missense	22873				germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr13:96277135C>G	AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"""Zinc fingers, C2H2-type"""	20908	protein-coding gene	gene with protein product		608671	"""DAZ interacting protein 1"""				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.859G>C	13.37:g.96277135C>G	ENSP00000366025:p.Asp287His					DZIP1_uc001vml.2_Missense_Mutation_p.D287H	p.D287H	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.141)		8	1711	-	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		287			Potential.		Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Missense_Mutation	SNP	ENST00000376829.2	37	c.859G>C	CCDS9478.1	.	.	.	.	.	.	.	.	.	.	C	8.711	0.912117	0.17907	.	.	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.4	4.55	0.56014	.	0.229997	0.43416	N	0.000572	T	0.38161	0.1030	L	0.43152	1.355	0.25745	N	0.985117	B;B	0.12013	0.005;0.003	B;B	0.13407	0.009;0.004	T	0.26883	-1.0090	10	0.40728	T	0.16	-9.1795	9.2451	0.37520	0.0:0.5654:0.356:0.0786	.	287;287	Q86YF9-2;Q86YF9	.;DZIP1_HUMAN	H	287	ENSP00000257312:D287H;ENSP00000355018:D287H;ENSP00000355175:D287H;ENSP00000366025:D287H	ENSP00000257312:D287H	D	-	1	0	DZIP1	95075136	0.999000	0.42202	0.972000	0.41901	0.986000	0.74619	0.632000	0.24583	1.383000	0.46405	0.655000	0.94253	GAC		0.294	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3		NM_014934		4	15	0	0	0	0.009096	0	4	15		
DOCK9	23348	broad.mit.edu	37	13	99532221	99532221	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr13:99532221G>T	ENST00000376460.1	-	27	2954	c.2874C>A	c.(2872-2874)taC>taA	p.Y958*	DOCK9_ENST00000448493.2_Nonsense_Mutation_p.Y970*|DOCK9_ENST00000339416.2_Nonsense_Mutation_p.Y959*|DOCK9_ENST00000442173.1_Nonsense_Mutation_p.Y958*	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	959					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AAAACCATGAGTACTAAAAGA	0.368																																						uc001vnt.2		NaN																	0				central_nervous_system(1)	1						c.(2875-2877)TAC>TAA		dedicator of cytokinesis 9 isoform a							80.0	73.0	75.0					13																	99532221		1869	4096	5965	SO:0001587	stop_gained	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99532221G>T	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.2874C>A	13.37:g.99532221G>T	ENSP00000365643:p.Tyr958*					DOCK9_uc001vnw.2_Nonsense_Mutation_p.Y958*|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Nonsense_Mutation_p.Y959*|DOCK9_uc010tis.1_Nonsense_Mutation_p.Y958*|DOCK9_uc010tit.1_Nonsense_Mutation_p.Y959*|DOCK9_uc010afu.1_Nonsense_Mutation_p.Y805*	p.Y959*	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN			27	2932	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		959					B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Nonsense_Mutation	SNP	ENST00000376460.1	37	c.2877C>A	CCDS45062.1	.	.	.	.	.	.	.	.	.	.	G	39	7.619082	0.98393	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000339416;ENST00000448493;ENST00000442173	.	.	.	5.36	0.245	0.15512	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.4967	9.5709	0.39427	0.6331:0.0:0.3669:0.0	.	.	.	.	X	958;959;959;959;958;959;970;958	.	ENSP00000341086:Y959X	Y	-	3	2	DOCK9	98330222	1.000000	0.71417	0.994000	0.49952	0.905000	0.53344	1.456000	0.35201	-0.088000	0.12506	-0.351000	0.07748	TAC		0.368	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1		NM_015296		18	21	1	0	2.35188e-11	0.006122	2.61582e-11	18	21		
NALCN	259232	broad.mit.edu	37	13	102029296	102029296	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr13:102029296G>T	ENST00000251127.6	-	5	568	c.487C>A	c.(487-489)Cca>Aca	p.P163T	NALCN_ENST00000376200.5_Missense_Mutation_p.P163T|NALCN_ENST00000376196.3_Missense_Mutation_p.P163T|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	163					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)	p.P163T(1)		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)					CTGGTCCTTGGCAGTTCAAAT	0.378																																						uc001vox.1		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(487-489)CCA>ACA		voltage gated channel like 1							68.0	70.0	69.0					13																	102029296		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:102029296G>T	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.487C>A	13.37:g.102029296G>T	ENSP00000251127:p.Pro163Thr					NALCN_uc001voy.2_5'UTR|NALCN_uc001voz.2_Missense_Mutation_p.P163T|NALCN_uc001vpa.2_Missense_Mutation_p.P163T	p.P163T	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			5	676	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		163			Cytoplasmic (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.487C>A	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.417436	0.83449	.	.	ENSG00000102452	ENST00000251127;ENST00000376196;ENST00000376200;ENST00000449582	D;D;D	0.98296	-4.85;-4.85;-4.85	4.92	4.92	0.64577	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98966	0.9648	M	0.86268	2.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.99494	1.0951	10	0.39692	T	0.17	.	18.1641	0.89719	0.0:0.0:1.0:0.0	.	163;163	F2Z323;Q8IZF0	.;NALCN_HUMAN	T	163	ENSP00000251127:P163T;ENSP00000365367:P163T;ENSP00000365373:P163T	ENSP00000251127:P163T	P	-	1	0	NALCN	100827297	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.283000	0.76528	0.650000	0.86243	CCA		0.378	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2		NM_052867		27	36	1	0	2.41591e-17	0.004656	2.87116e-17	27	36		
ERCC5	2073	broad.mit.edu	37	13	103510737	103510737	+	Missense_Mutation	SNP	G	G	A	rs146833751	byFrequency	TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr13:103510737G>A	ENST00000355739.4	+	6	2064	c.641G>A	c.(640-642)cGc>cAc	p.R214H	BIVM-ERCC5_ENST00000602836.1_Silent_p.A639A|ERCC5_ENST00000535557.1_Missense_Mutation_p.R214H	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	214					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TTCACCAAGCGCAGAAGAACA	0.383			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				G|||	23	0.00459265	0.0174	0.0	5008	,	,		19799	0.0		0.0	False		,,,				2504	0.0					uc001vpw.2		NaN	yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	Mis|N|F	"""excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"""			E		skin basal cell|skin squamous cell|melanoma			0				ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						c.(640-642)CGC>CAC	Direct_reversal_of_damage|NER	XPG-complementing protein		G	HIS/ARG,HIS/ARG	36,4370	42.3+/-75.8	0,36,2167	98.0	101.0	100.0		641,2003	5.3	1.0	13	dbSNP_134	100	0,8600		0,0,4300	yes	missense,missense	ERCC5,BIVM-ERCC5	NM_000123.3,NM_001204425.1	29,29	0,36,6467	AA,AG,GG		0.0,0.8171,0.2768	probably-damaging,probably-damaging	214/1187,668/1641	103510737	36,12970	2203	4300	6503	SO:0001583	missense	2073	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding	g.chr13:103510737G>A	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"""Cockayne syndrome"""	133530	"""xeroderma pigmentosum, complementation group G"", ""excision repair cross-complementing rodent repair deficiency, complementation group 5"""	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.641G>A	13.37:g.103510737G>A	ENSP00000347978:p.Arg214His					ERCC5_uc001vpu.1_Missense_Mutation_p.R668H|ERCC5_uc010tjb.1_Missense_Mutation_p.R214H|ERCC5_uc010tjc.1_RNA|ERCC5_uc010tjd.1_Missense_Mutation_p.R46H	p.R214H	NM_000123	NP_000114	P28715	ERCC5_HUMAN			6	1084	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		214					A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	ENST00000355739.4	37	c.641G>A	CCDS32004.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	G	32	5.126015	0.94429	0.008171	0.0	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000535557;ENST00000375955	T;T	0.35789	1.29;1.29	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.55273	0.1910	M	0.78049	2.395	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.987;0.999;0.997	T	0.61431	-0.7064	10	0.45353	T	0.12	-15.3668	18.993	0.92801	0.0:0.0:1.0:0.0	.	214;214;639	B4DSI5;P28715;Q59FZ7	.;ERCC5_HUMAN;.	H	639;214;214;46	ENSP00000347978:R214H;ENSP00000442117:R214H	ENSP00000347978:R214H	R	+	2	0	ERCC5	102308738	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.705000	0.91357	2.470000	0.83445	0.655000	0.94253	CGC		0.383	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1				20	104	0	0	0	0.010504	0	20	104		
F10	2159	broad.mit.edu	37	13	113803477	113803477	+	Silent	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr13:113803477C>A	ENST00000375559.3	+	8	1151	c.1113C>A	c.(1111-1113)ggC>ggA	p.G371G	F10_ENST00000375551.3_3'UTR|F10_ENST00000409306.1_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	371	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	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;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	ACGAGAAGGGCCGGCAGTCCA	0.637																																						uc001vsx.2		NaN																	0				pancreas(1)	1						c.(1111-1113)GGC>GGA		coagulation factor X preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)						39.0	38.0	39.0					13																	113803477		2203	4300	6503	SO:0001819	synonymous_variant	2159				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity	g.chr13:113803477C>A		CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.1113C>A	13.37:g.113803477C>A						F10_uc001vsy.2_3'UTR|F10_uc001vsz.2_3'UTR	p.G371G	NM_000504	NP_000495	P00742	FA10_HUMAN	all cancers(43;0.0805)|Epithelial(84;0.231)		8	1170	+	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;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	371			Peptidase S1.		Q14340	Silent	SNP	ENST00000375559.3	37	c.1113C>A	CCDS9530.1																																																																																				0.637	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045841.3				31	37	1	0	1.06801e-11	0.009535	1.19505e-11	31	37		
OR4K17	390436	broad.mit.edu	37	14	20586121	20586121	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr14:20586121C>G	ENST00000315543.4	+	1	556	c.556C>G	c.(556-558)Cac>Gac	p.H186D		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H186Y(1)		kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GGGTCTCCTTCACTCAGGGTT	0.453																																						uc001vwo.1		NaN																	1	Substitution - Missense(1)		lung(1)	skin(3)	3						c.(556-558)CAC>GAC		olfactory receptor, family 4, subfamily K,							248.0	211.0	224.0					14																	20586121		2203	4300	6503	SO:0001583	missense	390436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20586121C>G		CCDS32030.1	14q11.2	2013-09-23			ENSG00000176230	ENSG00000176230		"""GPCR / Class A : Olfactory receptors"""	15355	protein-coding gene	gene with protein product							Standard	NM_001004715		Approved		uc001vwo.1	Q8NGC6	OTTHUMG00000170783	ENST00000315543.4:c.556C>G	14.37:g.20586121C>G	ENSP00000319197:p.His186Asp						p.H186D	NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	556	+	all_cancers(95;0.00108)		158			Helical; Name=4; (Potential).		Q6IF12	Missense_Mutation	SNP	ENST00000315543.4	37	c.556C>G	CCDS32030.1	.	.	.	.	.	.	.	.	.	.	.	13.06	2.123818	0.37436	.	.	ENSG00000176230	ENST00000315543	T	0.37411	1.2	2.86	0.891	0.19224	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35151	U	0.003414	T	0.46908	0.1417	L	0.60904	1.88	0.20873	N	0.999838	D	0.89917	1.0	D	0.87578	0.998	T	0.21586	-1.0241	10	0.87932	D	0	.	3.5572	0.07869	0.2131:0.5565:0.0:0.2305	.	158	Q8NGC6	OR4KH_HUMAN	D	186	ENSP00000319197:H186D	ENSP00000319197:H186D	H	+	1	0	OR4K17	19655961	0.000000	0.05858	0.216000	0.23742	0.895000	0.52256	-0.094000	0.11094	0.482000	0.27582	0.404000	0.27445	CAC		0.453	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410346.1				60	94	0	0	0	0.01441	0	60	94		
TEP1	7011	broad.mit.edu	37	14	20876347	20876347	+	Silent	SNP	T	T	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr14:20876347T>A	ENST00000262715.5	-	2	292	c.252A>T	c.(250-252)acA>acT	p.T84T	TEP1_ENST00000556935.1_Silent_p.T84T	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	84					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GGTCAGAAAGTGTGGCCAGGC	0.552																																						uc001vxe.2		NaN																	0				ovary(5)	5						c.(250-252)ACA>ACT		telomerase-associated protein 1							112.0	108.0	109.0					14																	20876347		2203	4300	6503	SO:0001819	synonymous_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20876347T>A		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.252A>T	14.37:g.20876347T>A						TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Silent_p.T84T	p.T84T	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	2	292	-	all_cancers(95;0.00123)	all_lung(585;0.235)	84			TEP1 N-terminal 3.		A0AUV9	Silent	SNP	ENST00000262715.5	37	c.252A>T	CCDS9548.1																																																																																				0.552	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2		NM_007110		75	69	0	0	0	0.01441	0	75	69		
RNASE9	390443	broad.mit.edu	37	14	21024720	21024720	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr14:21024720C>T	ENST00000557068.1	-	4	2234	c.509G>A	c.(508-510)tGg>tAg	p.W170*	RNASE9_ENST00000553541.1_Nonsense_Mutation_p.W170*|RNASE9_ENST00000555230.1_Nonsense_Mutation_p.W170*|RNASE9_ENST00000553706.1_Nonsense_Mutation_p.W175*|RNASE9_ENST00000338904.3_Nonsense_Mutation_p.W170*|RNASE9_ENST00000557209.1_Nonsense_Mutation_p.W175*|RNASE9_ENST00000554964.1_Nonsense_Mutation_p.W170*|RNASE9_ENST00000404716.3_Nonsense_Mutation_p.W175*|RNASE9_ENST00000556208.1_Nonsense_Mutation_p.W175*|RNASE9_ENST00000429244.2_Nonsense_Mutation_p.W170*			P60153	RNAS9_HUMAN	ribonuclease, RNase A family, 9 (non-active)	170						extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		TTCATTTTGCCATGAACAAGT	0.383																																						uc010aho.2		NaN																	0				ovary(2)	2						c.(508-510)TGG>TAG		ribonuclease, RNase A family, 9 (non-active)							132.0	110.0	117.0					14																	21024720		2203	4300	6503	SO:0001587	stop_gained	390443					extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21024720C>T	AY665804	CCDS32036.1, CCDS53883.1, CCDS55904.1	14q11.2	2006-10-31				ENSG00000188655		"""Ribonucleases, RNase A"""	20673	protein-coding gene	gene with protein product		614014				15676279, 12920233	Standard	NM_001001673		Approved	h461	uc010ahu.3	P60153		ENST00000557068.1:c.509G>A	14.37:g.21024720C>T	ENSP00000451565:p.Trp170*					RNASE9_uc001vxq.3_Nonsense_Mutation_p.W175*|RNASE9_uc010ahp.2_Nonsense_Mutation_p.W175*|RNASE9_uc010ahq.2_Nonsense_Mutation_p.W175*|RNASE9_uc010ahr.2_Nonsense_Mutation_p.W175*|RNASE9_uc010ahs.2_Nonsense_Mutation_p.W170*|RNASE9_uc010aht.2_Nonsense_Mutation_p.W170*|RNASE9_uc010ahu.2_Nonsense_Mutation_p.W170*	p.W170*	NM_001110357	NP_001103827	P60153	RNAS9_HUMAN	Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)	4	668	-	all_cancers(95;0.00238)		170					A2RQR8|A8QJS1|Q5GAN7|Q6KG53	Nonsense_Mutation	SNP	ENST00000557068.1	37	c.509G>A	CCDS32036.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905635	0.72868	.	.	ENSG00000188655	ENST00000338904;ENST00000554964;ENST00000555230;ENST00000557068;ENST00000404716;ENST00000556208;ENST00000553541;ENST00000429244;ENST00000553706;ENST00000557209	.	.	.	3.73	3.73	0.42828	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999993	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-12.5591	11.3325	0.49484	0.0:1.0:0.0:0.0	.	.	.	.	X	170;170;170;170;175;175;170;170;175;175	.	ENSP00000340162:W170X	W	-	2	0	RNASE9	20094560	0.320000	0.24616	0.035000	0.18076	0.030000	0.12068	2.535000	0.45685	2.380000	0.81148	0.591000	0.81541	TGG		0.383	RNASE9-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411094.1		NM_001001673		14	17	0	0	0	0.003163	0	14	17		
TGM1	7051	broad.mit.edu	37	14	24723917	24723917	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr14:24723917C>A	ENST00000206765.6	-	13	2164	c.2041G>T	c.(2041-2043)Gcc>Tcc	p.A681S	TGM1_ENST00000544573.1_Missense_Mutation_p.A239S	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	681					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	TGCTGCTTGGCCAGCACCTGC	0.627																																						uc001wod.2		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(2041-2043)GCC>TCC		transglutaminase 1	L-Glutamine(DB00130)						81.0	80.0	80.0					14																	24723917		2203	4300	6503	SO:0001583	missense	7051				cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr14:24723917C>A	D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"""Transglutaminases"""	11777	protein-coding gene	gene with protein product	"""K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"""	190195	"""transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"""	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.2041G>T	14.37:g.24723917C>A	ENSP00000206765:p.Ala681Ser					TGM1_uc010tog.1_Missense_Mutation_p.A239S	p.A681S	NM_000359	NP_000350	P22735	TGM1_HUMAN		GBM - Glioblastoma multiforme(265;0.0186)	13	2165	-			681					B4DWR7|Q197M4	Missense_Mutation	SNP	ENST00000206765.6	37	c.2041G>T	CCDS9622.1	.	.	.	.	.	.	.	.	.	.	C	31	5.068371	0.93950	.	.	ENSG00000092295	ENST00000206765;ENST00000544573	T;T	0.68181	-0.31;-0.31	5.43	5.43	0.79202	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.102887	0.64402	D	0.000003	T	0.80308	0.4599	M	0.66939	2.045	0.54753	D	0.999987	D	0.76494	0.999	D	0.74348	0.983	T	0.80865	-0.1191	10	0.62326	D	0.03	-38.1567	16.7686	0.85531	0.0:1.0:0.0:0.0	.	681	P22735	TGM1_HUMAN	S	681;239	ENSP00000206765:A681S;ENSP00000439446:A239S	ENSP00000206765:A681S	A	-	1	0	TGM1	23793757	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.758000	0.74929	2.825000	0.97269	0.655000	0.94253	GCC		0.627	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6		NM_000359		62	77	1	0	1.7104e-27	0.01441	2.20248e-27	62	77		
SCFD1	23256	broad.mit.edu	37	14	31119826	31119826	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr14:31119826C>T	ENST00000458591.2	+	9	952	c.725C>T	c.(724-726)aCa>aTa	p.T242I	SCFD1_ENST00000396629.2_Missense_Mutation_p.T150I|SCFD1_ENST00000544052.2_Missense_Mutation_p.T175I|SCFD1_ENST00000541123.1_Missense_Mutation_p.T57I|SCFD1_ENST00000421551.3_Missense_Mutation_p.T183I	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	242					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle docking involved in exocytosis (GO:0006904)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi transport complex (GO:0017119)|Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)	syntaxin binding (GO:0019905)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		AGTCTTTTTACAGGTGATACA	0.289																																						uc001wqm.1		NaN																	0					0						c.(724-726)ACA>ATA		vesicle transport-related protein isoform a							56.0	63.0	61.0					14																	31119826		2203	4295	6498	SO:0001583	missense	23256				post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding	g.chr14:31119826C>T	AF110646	CCDS9639.1, CCDS45092.1, CCDS58308.1	14q12	2006-04-04	2004-01-15	2004-01-16	ENSG00000092108	ENSG00000092108			20726	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 163"""	C14orf163			Standard	NM_016106		Approved	RA410, KIAA0917, STXBP1L2, SLY1	uc001wqm.2	Q8WVM8	OTTHUMG00000029420	ENST00000458591.2:c.725C>T	14.37:g.31119826C>T	ENSP00000390783:p.Thr242Ile					SCFD1_uc001wqn.1_Missense_Mutation_p.T175I|SCFD1_uc010tpg.1_Missense_Mutation_p.T183I|SCFD1_uc010tph.1_Missense_Mutation_p.T57I|SCFD1_uc010amf.1_Missense_Mutation_p.T57I|SCFD1_uc010tpi.1_Missense_Mutation_p.T150I|SCFD1_uc010amd.1_Missense_Mutation_p.T74I|SCFD1_uc010ame.1_Missense_Mutation_p.T175I	p.T242I	NM_016106	NP_057190	Q8WVM8	SCFD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)	9	749	+	Hepatocellular(127;0.0877)		242					A8K2Z5|B7Z4U7|B7Z594|O60754|O94990|Q7Z529|Q9BZI3|Q9UNL3|Q9Y6A8	Missense_Mutation	SNP	ENST00000458591.2	37	c.725C>T	CCDS9639.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.907191	0.92107	.	.	ENSG00000092108	ENST00000458591;ENST00000544052;ENST00000421551;ENST00000541123;ENST00000553693;ENST00000396629;ENST00000469043	T;T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04;-1.04;-1.04	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.85474	0.5705	M	0.65320	2	0.80722	D	1	P;P;D;P	0.55172	0.935;0.9;0.97;0.9	P;P;P;P	0.59825	0.629;0.656;0.864;0.656	D	0.85575	0.1236	10	0.56958	D	0.05	-7.8098	18.8514	0.92232	0.0:1.0:0.0:0.0	.	183;175;150;242	B7Z738;B7Z4U7;B7Z594;Q8WVM8	.;.;.;SCFD1_HUMAN	I	242;175;183;57;83;150;97	ENSP00000390783:T242I;ENSP00000443010:T175I;ENSP00000388078:T183I;ENSP00000443537:T57I;ENSP00000379870:T150I;ENSP00000452448:T97I	ENSP00000309417:T250I	T	+	2	0	SCFD1	30189577	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.191000	0.77763	2.699000	0.92147	0.655000	0.94253	ACA		0.289	SCFD1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276612.3		NM_182835		23	40	0	0	0	0.007291	0	23	40		
MIPOL1	145282	broad.mit.edu	37	14	37777260	37777260	+	Splice_Site	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr14:37777260G>C	ENST00000327441.7	+	9	1089		c.e9-1		MIPOL1_ENST00000536774.1_Splice_Site|MIPOL1_ENST00000396294.2_Splice_Site|MIPOL1_ENST00000539062.2_Splice_Site|MIPOL1_ENST00000556451.1_Splice_Site|MIPOL1_ENST00000545536.1_Splice_Site|MIPOL1_ENST00000537471.1_Splice_Site	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1							nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		CTTTTTTCTAGGCTAGAAAAT	0.358																																						uc001wuc.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.e9-1		mirror-image polydactyly 1							118.0	122.0	121.0					14																	37777260		2203	4300	6503	SO:0001630	splice_region_variant	145282							g.chr14:37777260G>C	AY059470	CCDS9664.1	14q13.3	2010-05-25			ENSG00000151338	ENSG00000151338			21460	protein-coding gene	gene with protein product		606850				11954550, 19667180	Standard	NM_001195296		Approved		uc001wuc.3	Q8TD10	OTTHUMG00000140252	ENST00000327441.7:c.624-1G>C	14.37:g.37777260G>C						MIPOL1_uc010amr.2_Intron|MIPOL1_uc001wub.3_Splice_Site_p.V177_splice|MIPOL1_uc001wud.2_Splice_Site_p.V208_splice|MIPOL1_uc010ams.2_Splice_Site_p.V208_splice|MIPOL1_uc001wue.2_Splice_Site_p.V177_splice|MIPOL1_uc010amt.2_Splice_Site_p.V27_splice	p.V208_splice	NM_138731	NP_620059	Q8TD10	MIPO1_HUMAN	Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)	9	1127	+	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)							D3DSA4|Q7Z3J0|Q8IV14	Splice_Site	SNP	ENST00000327441.7	37	c.624_splice	CCDS9664.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.027371	0.54683	.	.	ENSG00000151338	ENST00000327441;ENST00000536774;ENST00000539062;ENST00000556451;ENST00000396294;ENST00000537471;ENST00000545536	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3689	0.94477	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MIPOL1	36847011	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.740000	0.84986	2.652000	0.90054	0.491000	0.48974	.		0.358	MIPOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276734.1		NM_138731	Intron	38	56	0	0	0	0.006999	0	38	56		
CLEC14A	161198	broad.mit.edu	37	14	38723983	38723983	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr14:38723983C>G	ENST00000342213.2	-	1	1591	c.1245G>C	c.(1243-1245)atG>atC	p.M415I		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	415						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CCAGTACTGTCATGGTCAAGA	0.557																																						uc001wum.1		NaN																	0				ovary(3)|skin(1)	4						c.(1243-1245)ATG>ATC		C-type lectin domain family 14, member A							50.0	49.0	49.0					14																	38723983		2203	4300	6503	SO:0001583	missense	161198					integral to membrane	sugar binding	g.chr14:38723983C>G		CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"""C-type lectin domain containing"""	19832	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 27"""	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.1245G>C	14.37:g.38723983C>G	ENSP00000353013:p.Met415Ile						p.M415I	NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)	1	1592	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		415			Helical; (Potential).		Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	ENST00000342213.2	37	c.1245G>C	CCDS9667.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.946496	0.34377	.	.	ENSG00000176435	ENST00000342213;ENST00000546356	T	0.71103	-0.54	4.79	2.86	0.33363	.	0.460583	0.19947	N	0.102510	T	0.47619	0.1455	N	0.11560	0.145	0.26627	N	0.97254	B	0.10296	0.003	B	0.10450	0.005	T	0.27226	-1.0080	10	0.17369	T	0.5	-4.6264	10.1916	0.43030	0.3753:0.6247:0.0:0.0	.	415	Q86T13	CLC14_HUMAN	I	415;180	ENSP00000353013:M415I	ENSP00000353013:M415I	M	-	3	0	CLEC14A	37793734	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.242000	0.32755	0.631000	0.30412	0.563000	0.77884	ATG		0.557	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1		NM_175060		33	29	0	0	0	0.013726	0	33	29		
EXOC5	10640	broad.mit.edu	37	14	57689135	57689135	+	Splice_Site	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr14:57689135C>A	ENST00000413566.2	-	13	1656		c.e13-1		EXOC5_ENST00000340918.7_Splice_Site	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5						cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|vesicle docking (GO:0048278)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						GATCAGAGAGCTTAAAAACAA	0.308																																						uc001xct.2		NaN																	0				ovary(2)|breast(1)	3						c.e13-1		SEC10 protein							63.0	54.0	56.0					14																	57689135		1816	4076	5892	SO:0001630	splice_region_variant	10640				exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm		g.chr14:57689135C>A	U85946	CCDS45111.1	14q22.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000070367	ENSG00000070367			10696	protein-coding gene	gene with protein product		604469	"""SEC10 (S. cerevisiae)-like 1"", ""SEC10-like 1 (S. cerevisiae)"""	SEC10L1		9119050	Standard	XM_005267272		Approved	SEC10, SEC10P	uc001xct.3	O00471	OTTHUMG00000171309	ENST00000413566.2:c.1297-1G>T	14.37:g.57689135C>A						EXOC5_uc001xcs.2_Splice_Site_p.L112_splice|EXOC5_uc010trg.1_Splice_Site_p.L378_splice|EXOC5_uc010trh.1_Splice_Site_p.L368_splice	p.L433_splice	NM_006544	NP_006535	O00471	EXOC5_HUMAN			13	1548	-								B2R6C5	Splice_Site	SNP	ENST00000413566.2	37	c.1297_splice	CCDS45111.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.932285	0.73442	.	.	ENSG00000070367	ENST00000413566;ENST00000340918	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8299	0.92133	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EXOC5	56758888	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	6.739000	0.74827	2.528000	0.85240	0.585000	0.79938	.		0.308	EXOC5-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412905.1		NM_006544	Intron	22	31	1	0	1.96895e-08	0.016522	2.08543e-08	22	31		
VRTN	55237	broad.mit.edu	37	14	74824202	74824202	+	Missense_Mutation	SNP	C	C	A	rs200831399		TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr14:74824202C>A	ENST00000256362.4	+	2	957	c.716C>A	c.(715-717)cCt>cAt	p.P239H		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	239					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						TACTTTGCCCCTGTGGTGGGG	0.687																																						uc001xpw.3		NaN																	0					0						c.(715-717)CCT>CAT		hypothetical protein LOC55237							39.0	41.0	40.0					14																	74824202		2203	4299	6502	SO:0001583	missense	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74824202C>A	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.716C>A	14.37:g.74824202C>A	ENSP00000256362:p.Pro239His						p.P239H	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00147)	2	907	+			239					Q9NVC7	Missense_Mutation	SNP	ENST00000256362.4	37	c.716C>A	CCDS9830.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.065641	0.76187	.	.	ENSG00000133980	ENST00000256362	T	0.44083	0.93	5.05	5.05	0.67936	.	0.072010	0.53938	D	0.000047	T	0.45756	0.1358	N	0.14661	0.345	0.42195	D	0.991747	D	0.76494	0.999	P	0.61328	0.887	T	0.53725	-0.8398	10	0.87932	D	0	-9.2311	16.7595	0.85508	0.0:1.0:0.0:0.0	.	239	Q9H8Y1	VRTN_HUMAN	H	239	ENSP00000256362:P239H	ENSP00000256362:P239H	P	+	2	0	VRTN	73893955	0.983000	0.35010	0.984000	0.44739	0.960000	0.62799	6.002000	0.70693	2.624000	0.88883	0.561000	0.74099	CCT		0.687	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1		NM_018228		46	76	1	0	3.28156e-27	0.01441	4.20615e-27	46	76		
FLVCR2	55640	broad.mit.edu	37	14	76107313	76107313	+	Silent	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr14:76107313C>A	ENST00000238667.4	+	7	1607	c.1251C>A	c.(1249-1251)ggC>ggA	p.G417G	FLVCR2_ENST00000555027.1_Silent_p.G132G|FLVCR2_ENST00000556856.1_Intron|FLVCR2_ENST00000553587.1_Intron|FLVCR2_ENST00000556241.1_Intron|FLVCR2_ENST00000539311.1_Silent_p.G212G	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	417					heme transport (GO:0015886)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	heme binding (GO:0020037)|heme transporter activity (GO:0015232)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		TTATGACTGGCTATCTCCCAC	0.532																																						uc001xrs.2		NaN																	0					0						c.(1249-1251)GGC>GGA		feline leukemia virus subgroup C cellular							108.0	100.0	103.0					14																	76107313		2203	4300	6503	SO:0001819	synonymous_variant	55640				transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity	g.chr14:76107313C>A	AK000378	CCDS9844.1, CCDS55933.1	14q24.3	2013-05-22	2007-05-01	2007-05-01	ENSG00000119686	ENSG00000119686		"""Solute carriers"""	20105	protein-coding gene	gene with protein product		610865	"""chromosome 14 open reading frame 58"", ""feline leukemia virus subgroup C cellular receptor 2"""	C14orf58		16439531, 20206334	Standard	NM_017791		Approved	FLJ20371, MFSD7C	uc001xrs.2	Q9UPI3	OTTHUMG00000171487	ENST00000238667.4:c.1251C>A	14.37:g.76107313C>A						FLVCR2_uc010tvd.1_Silent_p.G212G	p.G417G	NM_017791	NP_060261	Q9UPI3	FLVC2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	7	1627	+			417			Helical; (Potential).		B7Z485|Q53ZT9|Q96JY3|Q9NX90	Silent	SNP	ENST00000238667.4	37	c.1251C>A	CCDS9844.1																																																																																				0.532	FLVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413672.1		NM_017791		35	58	1	0	1.57351e-24	0.017118	1.98027e-24	35	58		
EML5	161436	broad.mit.edu	37	14	89148328	89148328	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr14:89148328C>T	ENST00000380664.5	-	21	3029	c.3030G>A	c.(3028-3030)ctG>ctA	p.L1010L	EML5_ENST00000352093.5_Silent_p.L972L|EML5_ENST00000554922.1_Silent_p.L1010L			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1010						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CACAGATGGGCAGATAAGGGT	0.408																																						uc001xxg.2		NaN																	0				ovary(3)	3						c.(3028-3030)CTG>CTA		echinoderm microtubule associated protein like							119.0	118.0	118.0					14																	89148328		1919	4129	6048	SO:0001819	synonymous_variant	161436					cytoplasm|microtubule		g.chr14:89148328C>T	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.3030G>A	14.37:g.89148328C>T						EML5_uc001xxh.1_Silent_p.L149L	p.L1010L	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN			22	3216	-			1010			WD 16.		B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Silent	SNP	ENST00000380664.5	37	c.3030G>A	CCDS45148.1																																																																																				0.408	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1				44	54	0	0	0	0.011902	0	44	54		
ATXN3	4287	broad.mit.edu	37	14	92555107	92555107	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr14:92555107G>C	ENST00000532032.1	-	6	451	c.442C>G	c.(442-444)Ctt>Gtt	p.L148V	ATXN3_ENST00000503767.1_Missense_Mutation_p.L133V|ATXN3_ENST00000340660.6_Missense_Mutation_p.L93V|ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000545170.1_Missense_Mutation_p.L148V|ATXN3_ENST00000393287.5_Missense_Mutation_p.L148V|ATXN3_ENST00000502250.1_De_novo_Start_OutOfFrame|ATXN3_ENST00000429774.2_Missense_Mutation_p.L133V			P54252	ATX3_HUMAN	ataxin 3	148	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|cellular response to misfolded protein (GO:0071218)|intermediate filament cytoskeleton organization (GO:0045104)|microtubule cytoskeleton organization (GO:0000226)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|monoubiquitinated protein deubiquitination (GO:0035520)|nervous system development (GO:0007399)|nucleotide-excision repair (GO:0006289)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell-substrate adhesion (GO:0010810)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|Lys48-specific deubiquitinase activity (GO:1990380)|Lys63-specific deubiquitinase activity (GO:0061578)|omega peptidase activity (GO:0008242)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		AAAAGTGCAAGATATGTATCT	0.323																																					Esophageal Squamous(190;752 2094 29897 44875 49530)	uc001yac.3		NaN																	0					0						c.(442-444)CTT>GTT		ataxin 3 reference isoform							221.0	242.0	235.0					14																	92555107		2203	4300	6503	SO:0001583	missense	4287				cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding	g.chr14:92555107G>C	U64820	CCDS9900.1, CCDS32143.1, CCDS45154.1, CCDS53908.1, CCDS73680.1	14q21	2014-09-17	2004-08-12	2004-08-13	ENSG00000066427	ENSG00000066427		"""Ataxins"""	7106	protein-coding gene	gene with protein product		607047	"""Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3)"""	SCA3, MJD		8358439	Standard	NM_004993		Approved	ATX3, JOS	uc001yac.4	P54252	OTTHUMG00000162212	ENST00000532032.1:c.442C>G	14.37:g.92555107G>C	ENSP00000437157:p.Leu148Val					ATXN3_uc010aug.2_Missense_Mutation_p.L133V|ATXN3_uc001yad.3_Missense_Mutation_p.L93V|ATXN3_uc010auh.2_Missense_Mutation_p.L82V|ATXN3_uc001yae.3_Missense_Mutation_p.L50V|ATXN3_uc010twl.1_RNA	p.L148V	NM_004993	NP_004984	P54252	ATX3_HUMAN		COAD - Colon adenocarcinoma(157;0.224)	6	511	-		all_cancers(154;0.0768)	148			Josephin.		A7LFZ5|D6RDL9|E9PB63|O15284|O15285|O15286|Q8N189|Q96TC3|Q96TC4|Q9H3N0	Missense_Mutation	SNP	ENST00000532032.1	37	c.442C>G		.	.	.	.	.	.	.	.	.	.	G	15.56	2.869784	0.51588	.	.	ENSG00000066427	ENST00000545278;ENST00000539555;ENST00000537884;ENST00000545170;ENST00000447800;ENST00000359819;ENST00000393289;ENST00000429774;ENST00000539454;ENST00000393287;ENST00000503767;ENST00000340660;ENST00000532032;ENST00000555381;ENST00000554592;ENST00000554672;ENST00000553491;ENST00000556220;ENST00000506466	T;T;T;T;T;T;T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5;0.5;0.5;0.5;0.5;0.5;0.5	5.51	4.6	0.57074	.	0.059084	0.64402	D	0.000002	T	0.71771	0.3379	M	0.73372	2.23	0.54753	D	0.999983	B;B;B;B;B	0.31817	0.035;0.071;0.028;0.341;0.057	P;B;B;P;B	0.54965	0.615;0.358;0.283;0.765;0.244	T	0.73717	-0.3895	10	0.62326	D	0.03	.	15.2628	0.73637	0.0:0.0:0.8585:0.1415	.	148;133;148;93;148	P54252;E9PB63;F5H096;P54252-3;P54252-2	ATX3_HUMAN;.;.;.;.	V	148;148;148;148;148;148;148;133;147;148;133;93;148;78;147;50;97;42;82	ENSP00000445618:L148V;ENSP00000389376:L133V;ENSP00000376965:L148V;ENSP00000426697:L133V;ENSP00000339110:L93V;ENSP00000437157:L148V;ENSP00000451001:L78V;ENSP00000451385:L147V;ENSP00000451417:L50V;ENSP00000451996:L97V;ENSP00000450641:L42V;ENSP00000435571:L82V	ENSP00000339110:L93V	L	-	1	0	ATXN3	91624860	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.058000	0.71126	1.309000	0.44985	0.555000	0.69702	CTT		0.323	ATXN3-015	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000388065.1		NM_004993		127	144	0	0	0	0.01441	0	127	144		
DYNC1H1	1778	broad.mit.edu	37	14	102498707	102498707	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr14:102498707C>A	ENST00000360184.4	+	52	10146	c.9982C>A	c.(9982-9984)Ctg>Atg	p.L3328M		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3328	Stalk. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CTGCCTGCTGCTGGGGGAAAG	0.577																																						uc001yks.2		NaN																	0				ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(9982-9984)CTG>ATG		cytoplasmic dynein 1 heavy chain 1							144.0	121.0	129.0					14																	102498707		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102498707C>A	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.9982C>A	14.37:g.102498707C>A	ENSP00000348965:p.Leu3328Met						p.L3328M	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			52	10146	+			3328			Stalk (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.9982C>A	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.517320	0.64634	.	.	ENSG00000197102	ENST00000360184	T	0.75821	-0.97	5.6	3.49	0.39957	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	T	0.82121	0.4968	M	0.73962	2.25	0.58432	D	0.999999	D	0.71674	0.998	D	0.67548	0.952	T	0.81099	-0.1086	10	0.42905	T	0.14	.	8.8436	0.35157	0.0:0.6893:0.0:0.3107	.	3328	Q14204	DYHC1_HUMAN	M	3328	ENSP00000348965:L3328M	ENSP00000348965:L3328M	L	+	1	2	DYNC1H1	101568460	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	1.311000	0.33562	1.306000	0.44926	0.467000	0.42956	CTG		0.577	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1		NM_001376		186	115	1	0	4.99412e-61	0.01441	7.12528e-61	186	115		
ZNF839	55778	broad.mit.edu	37	14	102792535	102792535	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr14:102792535G>C	ENST00000558850.1	+	2	504	c.154G>C	c.(154-156)Gac>Cac	p.D52H	ZNF839_ENST00000262236.5_Missense_Mutation_p.D52H|ZNF839_ENST00000442396.2_Missense_Mutation_p.D168H|ZNF839_ENST00000559185.1_Missense_Mutation_p.D52H	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839	52							metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CTTCCTAAGTGACTTATGCCA	0.607																																						uc001ylo.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(154-156)GAC>CAC		zinc finger protein 839							44.0	48.0	46.0					14																	102792535		1947	4156	6103	SO:0001583	missense	55778					intracellular	zinc ion binding	g.chr14:102792535G>C	AK093342	CCDS45164.1, CCDS58336.1	14q32.32	2010-05-06	2008-06-23	2008-06-23	ENSG00000022976	ENSG00000022976			20345	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 131"""	C14orf131			Standard	NM_018335		Approved		uc010awk.2	A8K0R7		ENST00000558850.1:c.154G>C	14.37:g.102792535G>C	ENSP00000453363:p.Asp52His					ZNF839_uc010awk.1_Missense_Mutation_p.D168H|ZNF839_uc001ylp.2_RNA|ZNF839_uc001ylq.1_Missense_Mutation_p.D52H|ZNF839_uc001ylr.2_Missense_Mutation_p.D52H	p.D52H	NM_018335	NP_060805	A8K0R7	ZN839_HUMAN			2	504	+			52					B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Missense_Mutation	SNP	ENST00000558850.1	37	c.154G>C	CCDS58336.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.183984	0.38609	.	.	ENSG00000022976	ENST00000442396;ENST00000262236	T;T	0.42513	0.97;0.97	4.1	-7.46	0.01369	.	.	.	.	.	T	0.14960	0.0361	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.08055	0.003;0.002;0.002	T	0.22417	-1.0217	9	0.31617	T	0.26	.	6.0684	0.19875	0.3112:0.4278:0.261:0.0	.	168;52;52	A8K0R7-5;A8K0R7-2;A8K0R7	.;.;ZN839_HUMAN	H	168;52	ENSP00000399863:D168H;ENSP00000262236:D52H	ENSP00000262236:D52H	D	+	1	0	ZNF839	101862288	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.213000	0.09305	-1.926000	0.01061	0.556000	0.70494	GAC		0.607	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415492.2		NM_018335		38	17	0	0	0	0.006999	0	38	17		
KIF26A	26153	broad.mit.edu	37	14	104642734	104642734	+	Silent	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr14:104642734C>G	ENST00000423312.2	+	12	3609	c.3609C>G	c.(3607-3609)gcC>gcG	p.A1203A	KIF26A_ENST00000315264.7_Silent_p.A1064A	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1203					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CATCCGCAGCCCAGACCATCC	0.736																																						uc001yos.3		NaN																	0				pancreas(1)	1						c.(3607-3609)GCC>GCG		kinesin family member 26A							14.0	19.0	17.0					14																	104642734		1926	4096	6022	SO:0001819	synonymous_variant	26153				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity	g.chr14:104642734C>G	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.3609C>G	14.37:g.104642734C>G							p.A1203A	NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Epithelial(46;0.152)	Epithelial(152;0.161)	12	3609	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	1203					Q8TAZ7|Q96GK3|Q9UFL3	Silent	SNP	ENST00000423312.2	37	c.3609C>G	CCDS45171.1																																																																																				0.736	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1				16	20	0	0	0	0.00499	0	16	20		
INF2	64423	broad.mit.edu	37	14	105174812	105174812	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr14:105174812C>A	ENST00000392634.4	+	9	1887	c.1775C>A	c.(1774-1776)gCc>gAc	p.A592D	INF2_ENST00000330634.7_Missense_Mutation_p.A592D	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	592	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		AGCCCCGACGCCGAGGCTGTG	0.682											OREG0022959	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ypb.2		NaN																	0					0						c.(1774-1776)GCC>GAC		inverted formin 2 isoform 1							35.0	41.0	39.0					14																	105174812		1938	4130	6068	SO:0001583	missense	64423				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding	g.chr14:105174812C>A	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.1775C>A	14.37:g.105174812C>A	ENSP00000376410:p.Ala592Asp		OREG0022959	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1387	INF2_uc010tyi.1_Missense_Mutation_p.A592D|INF2_uc001ypc.2_Missense_Mutation_p.A592D|INF2_uc010awz.1_RNA	p.A592D	NM_022489	NP_071934	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)	9	1918	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	592			FH2.		Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Missense_Mutation	SNP	ENST00000392634.4	37	c.1775C>A	CCDS9989.2	.	.	.	.	.	.	.	.	.	.	C	0.261	-0.999287	0.02128	.	.	ENSG00000203485	ENST00000330634;ENST00000392634	T;T	0.17054	2.3;2.3	4.04	0.406	0.16366	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.650666	0.15095	U	0.280854	T	0.07503	0.0189	N	0.20685	0.6	0.09310	N	0.999999	B;B	0.06786	0.001;0.001	B;B	0.08055	0.001;0.003	T	0.31998	-0.9923	10	0.19590	T	0.45	.	1.6996	0.02870	0.3789:0.36:0.1419:0.1192	.	592;592	Q27J81-2;Q27J81	.;INF2_HUMAN	D	592	ENSP00000376406:A592D;ENSP00000376410:A592D	ENSP00000252527:A60D	A	+	2	0	INF2	104245857	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	1.202000	0.32271	0.675000	0.31264	0.561000	0.74099	GCC		0.682	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4		NM_022489		61	62	1	0	1.34159e-35	0.01441	1.80724e-35	61	62		
CEP170B	283638	broad.mit.edu	37	14	105354104	105354104	+	Silent	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr14:105354104G>C	ENST00000414716.3	+	12	3756	c.3528G>C	c.(3526-3528)cgG>cgC	p.R1176R	CEP170B_ENST00000418279.1_Silent_p.R1106R|CEP170B_ENST00000453495.1_Silent_p.R1177R|CEP170B_ENST00000556508.1_Silent_p.R1106R	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	1176						cytoplasm (GO:0005737)|microtubule (GO:0005874)											CCCGGAAGCGGGCCGGCTCCT	0.697																																						uc010axb.2		NaN																	0				breast(1)	1						c.(3526-3528)CGG>CGC		hypothetical protein LOC283638 isoform 1							7.0	10.0	9.0					14																	105354104		1942	4091	6033	SO:0001819	synonymous_variant	283638					cytoplasm|microtubule		g.chr14:105354104G>C	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.3528G>C	14.37:g.105354104G>C						INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Silent_p.R1106R|KIAA0284_uc001yps.2_Silent_p.R1082R|KIAA0284_uc001ypt.2_5'Flank	p.R1176R	NM_001112726	NP_001106197	Q9Y4F5	K0284_HUMAN	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)	12	3752	+		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1176					Q2KHR7|Q86TI7	Silent	SNP	ENST00000414716.3	37	c.3528G>C	CCDS45175.1																																																																																				0.697	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2		NM_001112726		10	6	0	0	0	0.008291	0	10	6		
OTUD7A	161725	broad.mit.edu	37	15	31776332	31776332	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr15:31776332A>G	ENST00000307050.4	-	11	2038	c.1946T>C	c.(1945-1947)tTc>tCc	p.F649S	OTUD7A_ENST00000382902.1_Missense_Mutation_p.F656S	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	649					protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		CTCCTCGTGGAACTGGTGCCG	0.682																																						uc001zfq.2		NaN																	0				pancreas(1)|skin(1)	2						c.(1945-1947)TTC>TCC		OTU domain containing 7A							16.0	16.0	16.0					15																	31776332		2180	4254	6434	SO:0001583	missense	161725					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	g.chr15:31776332A>G	AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"""OTU domain containing"""	20718	protein-coding gene	gene with protein product		612024	"""chromosome 15 open reading frame 16"", ""OTU domain containing 7"", ""OTU domain containing 7A"""	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.1946T>C	15.37:g.31776332A>G	ENSP00000305926:p.Phe649Ser					OTUD7A_uc001zfr.2_Missense_Mutation_p.F656S	p.F649S	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)	11	2039	-		all_lung(180;1.6e-09)	649					Q8IWK5	Missense_Mutation	SNP	ENST00000307050.4	37	c.1946T>C	CCDS10026.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.994656	0.74703	.	.	ENSG00000169918	ENST00000307050;ENST00000382902	T;T	0.37752	1.18;1.18	4.31	4.31	0.51392	.	0.096793	0.64402	D	0.000001	T	0.50956	0.1646	L	0.42245	1.32	0.44719	D	0.997717	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.986	T	0.54403	-0.8299	10	0.87932	D	0	-4.1745	13.5021	0.61462	1.0:0.0:0.0:0.0	.	656;649	Q8TE49-2;Q8TE49	.;OTU7A_HUMAN	S	649;656	ENSP00000305926:F649S;ENSP00000372358:F656S	ENSP00000305926:F649S	F	-	2	0	OTUD7A	29563624	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.513000	0.73742	1.569000	0.49696	0.414000	0.27820	TTC		0.682	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2		NM_130901		17	32	0	0	0	0.012319	0	17	32		
EIF3J	8669	broad.mit.edu	37	15	44829435	44829435	+	Splice_Site	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr15:44829435G>C	ENST00000535391.1	+	1	55	c.43G>C	c.(43-45)Gac>Cac	p.D15H	EIF3J_ENST00000424492.3_Splice_Site_p.D15H|EIF3J-AS1_ENST00000313807.4_lincRNA|EIF3J_ENST00000261868.5_Splice_Site_p.D15H					eukaryotic translation initiation factor 3, subunit J											endometrium(1)|large_intestine(5)|liver(2)|skin(1)	9		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)		GGACTCCTGGGGTGAGGAGAA	0.711																																						uc001ztv.2		NaN																	0					0						c.(43-45)GAC>CAC		eukaryotic translation initiation factor 3,							6.0	8.0	7.0					15																	44829435		1996	4051	6047	SO:0001630	splice_region_variant	8669					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr15:44829435G>C	U97670	CCDS10111.1, CCDS61612.1, CCDS61613.1	15q21.1	2014-05-13	2007-07-27	2007-07-27	ENSG00000104131	ENSG00000104131			3270	protein-coding gene	gene with protein product		603910	"""eukaryotic translation initiation factor 3, subunit 1 alpha, 35kDa"""	EIF3S1		9822659	Standard	NM_001284335		Approved	eIF3-p35, eIF3-alpha, eIF3j	uc001ztv.3	O75822	OTTHUMG00000131158	ENST00000535391.1:c.43+1G>C	15.37:g.44829435G>C						uc001ztu.2_5'Flank|EIF3J_uc010ueg.1_Missense_Mutation_p.D15H|EIF3J_uc001ztw.2_Missense_Mutation_p.D15H	p.D15H	NM_003758	NP_003749	O75822	EIF3J_HUMAN		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)	1	170	+		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)	15			Sufficient for interaction with EIF3B.			Missense_Mutation	SNP	ENST00000535391.1	37	c.43G>C		.	.	.	.	.	.	.	.	.	.	G	11.61	1.690166	0.29962	.	.	ENSG00000104131	ENST00000261868;ENST00000535391;ENST00000424492	T;T;T	0.74209	-0.04;-0.04;-0.82	4.25	3.31	0.37934	.	0.119196	0.53938	D	0.000060	T	0.69788	0.3150	M	0.75447	2.3	0.34626	D	0.719068	P;P;P	0.47841	0.651;0.901;0.799	B;B;B	0.37387	0.124;0.207;0.248	T	0.80415	-0.1392	10	0.87932	D	0	.	10.7705	0.46319	0.0:0.0:0.8095:0.1905	.	15;15;15	B4DUI3;F5H425;O75822	.;.;EIF3J_HUMAN	H	15	ENSP00000261868:D15H;ENSP00000440221:D15H;ENSP00000414548:D15H	ENSP00000261868:D15H	D	+	1	0	EIF3J	42616727	1.000000	0.71417	1.000000	0.80357	0.002000	0.02628	4.334000	0.59291	1.123000	0.41961	-0.324000	0.08512	GAC		0.711	EIF3J-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000396804.1		NM_003758	Missense_Mutation	8	10	0	0	0	0.004482	0	8	10		
SLC12A1	6557	broad.mit.edu	37	15	48561931	48561931	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr15:48561931C>A	ENST00000558405.1	+	18	2386	c.2372C>A	c.(2371-2373)aCa>aAa	p.T791K	SLC12A1_ENST00000396577.3_Missense_Mutation_p.T791K|SLC12A1_ENST00000380993.3_Missense_Mutation_p.T791K			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	791					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GCTCCCTTGACAGAGATTGAG	0.408																																						uc001zwn.3		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(2371-2373)ACA>AAA		sodium potassium chloride cotransporter 2	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)						102.0	94.0	97.0					15																	48561931		2198	4297	6495	SO:0001583	missense	6557				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	g.chr15:48561931C>A		CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.2372C>A	15.37:g.48561931C>A	ENSP00000453409:p.Thr791Lys					SLC12A1_uc010uew.1_Missense_Mutation_p.T597K|SLC12A1_uc010bem.2_Missense_Mutation_p.T791K|SLC12A1_uc001zwq.3_Missense_Mutation_p.T562K|SLC12A1_uc001zwr.3_Missense_Mutation_p.T518K	p.T791K	NM_000338	NP_000329	Q13621	S12A1_HUMAN		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	19	2588	+		all_lung(180;0.00219)	791					A8JYA2|E9PDW4	Missense_Mutation	SNP	ENST00000558405.1	37	c.2372C>A	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	C	4.448	0.082994	0.08533	.	.	ENSG00000074803	ENST00000380993;ENST00000396577	D;D	0.81821	-1.54;-1.54	4.97	4.97	0.65823	.	0.657984	0.16749	N	0.201135	T	0.60586	0.2280	N	0.10809	0.05	0.29302	N	0.8686	B;B	0.12013	0.005;0.0	B;B	0.12156	0.007;0.001	T	0.43718	-0.9374	10	0.05833	T	0.94	.	12.1696	0.54150	0.0:0.9216:0.0:0.0784	.	791;791	E9PDW4;Q13621	.;S12A1_HUMAN	K	791	ENSP00000370381:T791K;ENSP00000379822:T791K	ENSP00000370381:T791K	T	+	2	0	SLC12A1	46349223	0.709000	0.27886	1.000000	0.80357	0.939000	0.58152	1.679000	0.37597	2.737000	0.93849	0.563000	0.77884	ACA		0.408	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1				13	16	1	0	4.3838e-07	0.016723	4.58194e-07	13	16		
ATP8B4	79895	broad.mit.edu	37	15	50211048	50211048	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr15:50211048C>A	ENST00000284509.6	-	19	2164	c.2023G>T	c.(2023-2025)Gga>Tga	p.G675*	ATP8B4_ENST00000559829.1_Nonsense_Mutation_p.G675*	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	675						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TGTTTGTCTCCTGTTAGGACC	0.343																																						uc001zxu.2		NaN																	0				skin(3)|ovary(2)|breast(2)|large_intestine(1)	8						c.(2023-2025)GGA>TGA		ATPase class I type 8B member 4							148.0	134.0	139.0					15																	50211048		2196	4294	6490	SO:0001587	stop_gained	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50211048C>A	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.2023G>T	15.37:g.50211048C>A	ENSP00000284509:p.Gly675*					ATP8B4_uc010ber.2_Nonsense_Mutation_p.G548*|ATP8B4_uc010ufd.1_Nonsense_Mutation_p.G485*|ATP8B4_uc010ufe.1_RNA	p.G675*	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	19	2165	-		all_lung(180;0.00183)	675			Cytoplasmic (Potential).		Q9H727	Nonsense_Mutation	SNP	ENST00000284509.6	37	c.2023G>T	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	C	40	8.428422	0.98808	.	.	ENSG00000104043	ENST00000284509	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.5077	0.84277	0.0:1.0:0.0:0.0	.	.	.	.	X	675	.	ENSP00000284509:G675X	G	-	1	0	ATP8B4	47998340	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.468000	0.80943	2.579000	0.87056	0.650000	0.86243	GGA		0.343	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1		NM_024837		33	45	1	0	1.90571e-15	0.019004	2.20808e-15	33	45		
UNC13C	440279	broad.mit.edu	37	15	54803976	54803976	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr15:54803976A>G	ENST00000260323.11	+	23	5405	c.5405A>G	c.(5404-5406)cAa>cGa	p.Q1802R	UNC13C_ENST00000537900.1_Missense_Mutation_p.Q1800R|UNC13C_ENST00000545554.1_Missense_Mutation_p.Q1802R	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1802					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AACAATATTCAACAATTGCGG	0.313																																						uc002ack.2		NaN																	0				ovary(5)|pancreas(2)	7						c.(5404-5406)CAA>CGA		unc-13 homolog C							48.0	46.0	47.0					15																	54803976		1793	4092	5885	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54803976A>G	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.5405A>G	15.37:g.54803976A>G	ENSP00000260323:p.Gln1802Arg						p.Q1802R	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	22	5405	+			1802					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.5405A>G	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	A	18.19	3.569699	0.65765	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.78595	-1.19;-1.19;-1.19	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.81226	0.4778	M	0.86805	2.84	0.50039	D	0.999848	B	0.24258	0.1	B	0.20577	0.03	T	0.80455	-0.1375	10	0.72032	D	0.01	.	15.324	0.74144	1.0:0.0:0.0:0.0	.	1802	Q8NB66	UN13C_HUMAN	R	1802;1802;1800	ENSP00000260323:Q1802R;ENSP00000438156:Q1802R;ENSP00000442569:Q1800R	ENSP00000260323:Q1802R	Q	+	2	0	UNC13C	52591268	1.000000	0.71417	0.988000	0.46212	0.940000	0.58332	8.699000	0.91316	2.209000	0.71365	0.460000	0.39030	CAA		0.313	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3		NM_173166		11	5	0	0	0	0.010729	0	11	5		
NEDD4	4734	broad.mit.edu	37	15	56152722	56152722	+	Silent	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr15:56152722G>T	ENST00000508342.1	-	7	2399	c.2100C>A	c.(2098-2100)gcC>gcA	p.A700A	NEDD4_ENST00000506154.1_Silent_p.A684A|NEDD4_ENST00000435532.3_Silent_p.A281A|NEDD4_ENST00000338963.2_Silent_p.A628A	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	700	Mediates interaction with TNIK. {ECO:0000250}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		GTGATGGGAAGGCCTGGTTGC	0.423																																						uc002adj.2		NaN																	0				skin(2)|ovary(1)|breast(1)	4						c.(2098-2100)GCC>GCA		neural precursor cell expressed, developmentally							141.0	125.0	130.0					15																	56152722		2193	4292	6485	SO:0001819	synonymous_variant	4734				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	g.chr15:56152722G>T	D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.2100C>A	15.37:g.56152722G>T						NEDD4_uc002adl.2_Silent_p.A281A|NEDD4_uc002adi.2_Silent_p.A628A|NEDD4_uc010ugj.1_Silent_p.A684A|NEDD4_uc010bfm.2_Silent_p.A683A|NEDD4_uc002adk.2_RNA	p.A700A	NM_198400	NP_006145	P46934	NEDD4_HUMAN		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	7	2400	-			700			Mediates interaction with TNIK (By similarity).		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Silent	SNP	ENST00000508342.1	37	c.2100C>A		.	.	.	.	.	.	.	.	.	.	G	8.665	0.901507	0.17760	.	.	ENSG00000069869	ENST00000508871	.	.	.	5.8	1.16	0.20824	.	.	.	.	.	T	0.25158	0.0611	.	.	.	0.25065	N	0.991035	.	.	.	.	.	.	T	0.23013	-1.0200	4	.	.	.	.	5.085	0.14676	0.3843:0.0:0.478:0.1377	.	.	.	.	H	291	.	.	P	-	2	0	NEDD4	53940014	0.213000	0.23551	0.505000	0.27651	0.950000	0.60333	0.106000	0.15354	0.534000	0.28695	0.585000	0.79938	CCT		0.423	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1		NM_198400		11	66	1	0	5.50884e-06	0.013537	5.68291e-06	11	66		
VPS13C	54832	broad.mit.edu	37	15	62146695	62146695	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr15:62146695C>A	ENST00000261517.5	-	85	11296	c.11223G>T	c.(11221-11223)caG>caT	p.Q3741H	RP11-16B9.1_ENST00000559251.1_RNA|VPS13C_ENST00000249837.3_Missense_Mutation_p.Q3698H	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCACTGATGACTGCTTCATCA	0.398																																						uc002agz.2		NaN																	0				ovary(2)	2						c.(11221-11223)CAG>CAT		vacuolar protein sorting 13C protein isoform 2A							221.0	197.0	205.0					15																	62146695		2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62146695C>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.11223G>T	15.37:g.62146695C>A	ENSP00000261517:p.Gln3741His					VPS13C_uc002aha.2_Missense_Mutation_p.Q3698H	p.Q3741H	NM_020821	NP_065872	Q709C8	VP13C_HUMAN			85	11297	-			3741						Missense_Mutation	SNP	ENST00000261517.5	37	c.11223G>T	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.243298	0.39697	.	.	ENSG00000129003	ENST00000249837;ENST00000261517	T;T	0.48522	0.81;0.81	5.36	-1.39	0.08997	.	0.000000	0.85682	D	0.000000	T	0.56411	0.1983	M	0.69823	2.125	0.31041	N	0.716305	D;D	0.65815	0.995;0.966	P;P	0.58873	0.847;0.751	T	0.61257	-0.7099	10	0.72032	D	0.01	.	9.2389	0.37484	0.0:0.4889:0.0:0.5111	.	3698;3741	Q709C8-3;Q709C8	.;VP13C_HUMAN	H	3698;3741	ENSP00000249837:Q3698H;ENSP00000261517:Q3741H	ENSP00000249837:Q3698H	Q	-	3	2	VPS13C	59933987	0.006000	0.16342	0.022000	0.16811	0.242000	0.25591	-0.877000	0.04197	-0.461000	0.06993	-0.806000	0.03193	CAG		0.398	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1		NM_017684		112	135	1	0	1.37143e-49	0.01441	1.92209e-49	112	135		
CSPG4	1464	broad.mit.edu	37	15	75981330	75981330	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr15:75981330G>A	ENST00000308508.5	-	3	2168	c.2076C>T	c.(2074-2076)gcC>gcT	p.A692A		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	692	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.|Interaction with COL6A2. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CCTGCCCCACGGCATTGGTCT	0.662																																						uc002baw.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(2074-2076)GCC>GCT		chondroitin sulfate proteoglycan 4 precursor							66.0	65.0	65.0					15																	75981330		2197	4293	6490	SO:0001819	synonymous_variant	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75981330G>A	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.2076C>T	15.37:g.75981330G>A							p.A692A	NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN			3	2169	-			692			CSPG 3.|Extracellular (Potential).|Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).		D3DW77|Q92675	Silent	SNP	ENST00000308508.5	37	c.2076C>T	CCDS10284.1																																																																																				0.662	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1		NM_001897		57	84	0	0	0	0.01441	0	57	84		
TBC1D2B	23102	broad.mit.edu	37	15	78290635	78290635	+	Missense_Mutation	SNP	C	C	T	rs200408968		TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr15:78290635C>T	ENST00000300584.3	-	13	2758	c.2759G>A	c.(2758-2760)cGa>cAa	p.R920Q	TBC1D2B_ENST00000409931.3_Missense_Mutation_p.D903N|TBC1D2B_ENST00000492078.1_5'UTR	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	920							Rab GTPase activator activity (GO:0005097)	p.D903N(3)|p.R920Q(1)		breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GTAGGCGCGTCGGTTCCGGAT	0.617																																						uc002bcy.3		NaN																	4	Substitution - Missense(4)	p.D903N(1)	cervix(2)|upper_aerodigestive_tract(1)|ovary(1)	ovary(1)|large_intestine(1)|breast(1)	3						c.(2758-2760)CGA>CAA		TBC1 domain family, member 2B isoform a							39.0	33.0	35.0					15																	78290635		2196	4291	6487	SO:0001583	missense	23102					intracellular	protein binding|Rab GTPase activator activity	g.chr15:78290635C>T	AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.2759G>A	15.37:g.78290635C>T	ENSP00000300584:p.Arg920Gln					TBC1D2B_uc010bla.2_Missense_Mutation_p.D903N	p.R920Q	NM_144572	NP_653173	Q9UPU7	TBD2B_HUMAN			13	2759	-			920					A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	ENST00000300584.3	37	c.2759G>A	CCDS45314.1	88|88	0.040293040293040296|0.040293040293040296	2|2	0.0040650406504065045|0.0040650406504065045	10|10	0.027624309392265192|0.027624309392265192	8|8	0.013986013986013986|0.013986013986013986	68|68	0.08970976253298153|0.08970976253298153	c|c	22.6|22.6	4.311579|4.311579	0.81358|0.81358	.|.	.|.	ENSG00000167202|ENSG00000167202	ENST00000418039;ENST00000409931|ENST00000300584	T|T	0.11712|0.09445	2.75|2.98	4.48|4.48	4.48|4.48	0.54585|0.54585	.|.	0.787190|.	0.11177|.	N|.	0.591392|.	T|T	0.00608|0.00608	0.0020|0.0020	.|.	.|.	.|.	0.26703|0.26703	N|N	0.971136|0.971136	B|D	0.30193|0.57257	0.272|0.979	B|P	0.18561|0.51833	0.022|0.681	T|T	0.06807|0.06807	-1.0806|-1.0806	9|8	0.02654|0.23891	T|T	1|0.37	.|.	16.1645|16.1645	0.81745|0.81745	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	903|920	Q9UPU7-2|Q9UPU7	.|TBD2B_HUMAN	N|Q	802;903|920	ENSP00000387165:D903N|ENSP00000300584:R920Q	ENSP00000387165:D903N|ENSP00000300584:R920Q	D|R	-|-	1|2	0|0	TBC1D2B|TBC1D2B	76077690|76077690	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.855000|0.855000	0.48748|0.48748	6.002000|6.002000	0.70693|0.70693	2.033000|2.033000	0.60031|0.60031	0.479000|0.479000	0.44913|0.44913	GAC|CGA		0.617	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3		NM_015079		3	20	0	0	0	0.001168	0	3	20		
ZNF774	342132	broad.mit.edu	37	15	90897897	90897897	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr15:90897897G>C	ENST00000354377.3	+	2	191	c.5G>C	c.(4-6)tGg>tCg	p.W2S	ZNF774_ENST00000379090.5_Missense_Mutation_p.W2S|ZNF774_ENST00000558115.1_Intron	NM_001004309.2	NP_001004309.2	Q6NX45	ZN774_HUMAN	zinc finger protein 774	2	KRAB.				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(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TTGATAATGTGGCTGGGGACT	0.483																																						uc002bpk.3		NaN																	0					0						c.(4-6)TGG>TCG		zinc finger protein 774							92.0	84.0	86.0					15																	90897897		2199	4298	6497	SO:0001583	missense	342132				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:90897897G>C	BC067279	CCDS32330.1	15q26.1	2013-01-08				ENSG00000196391		"""Zinc fingers, C2H2-type"""	33108	protein-coding gene	gene with protein product							Standard	NM_001004309		Approved	MGC75360	uc002bpk.4	Q6NX45		ENST00000354377.3:c.5G>C	15.37:g.90897897G>C	ENSP00000346348:p.Trp2Ser						p.W2S	NM_001004309	NP_001004309	Q6NX45	ZN774_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		2	191	+	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		2			KRAB.		A8K020	Missense_Mutation	SNP	ENST00000354377.3	37	c.5G>C	CCDS32330.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.762421	0.49468	.	.	ENSG00000196391	ENST00000354377;ENST00000379090	T;T	0.62941	3.29;-0.01	4.27	4.27	0.50696	.	0.000000	0.31772	U	0.007099	T	0.53498	0.1800	N	0.22421	0.69	0.47511	D	0.999449	D	0.54207	0.965	P	0.47864	0.559	T	0.60414	-0.7268	10	0.87932	D	0	.	12.0634	0.53574	0.0:0.0:1.0:0.0	.	2	Q6NX45	ZN774_HUMAN	S	2	ENSP00000346348:W2S;ENSP00000368383:W2S	ENSP00000346348:W2S	W	+	2	0	ZNF774	88698901	1.000000	0.71417	0.994000	0.49952	0.404000	0.30871	2.007000	0.40883	2.226000	0.72624	0.460000	0.39030	TGG		0.483	ZNF774-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418048.1		NM_001004309		10	11	0	0	0	0.008291	0	10	11		
RCCD1	91433	broad.mit.edu	37	15	91500713	91500713	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr15:91500713G>A	ENST00000394258.2	+	3	739	c.537G>A	c.(535-537)gtG>gtA	p.V179V	RCCD1_ENST00000556774.1_Intron|RCCD1_ENST00000556618.1_Silent_p.V179V|RCCD1_ENST00000555155.1_Silent_p.V179V|AC068831.6_ENST00000553321.1_RNA	NM_001017919.1|NM_033544.2	NP_001017919.1|NP_291022.2	A6NED2	RCCD1_HUMAN	RCC1 domain containing 1	179				RLPLLPCARAYVSPRAPFYRPLAPELRARQLELGAEHALLL DAAGQVFSWGGGR -> GGAAGGLVRLRFLRLRAGAGLRTR APGAQPQSAAGGRRHLPRERELELHRFRDP (in Ref. 3; AAI13827). {ECO:0000305}.		cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(2)	4	Lung NSC(78;0.0987)|all_lung(78;0.175)		Lung(145;0.189)			CTGGCCAGGTGTTCTCCTGGG	0.706																																						uc002bqj.2		NaN																	0					0						c.(535-537)GTG>GTA		RCC1 domain containing 1							4.0	5.0	5.0					15																	91500713		2023	4077	6100	SO:0001819	synonymous_variant	91433							g.chr15:91500713G>A		CCDS32333.1	15q26.1	2005-10-21	2005-10-21			ENSG00000166965			30457	protein-coding gene	gene with protein product						12477932	Standard	XM_006720763		Approved	MGC14386	uc002bqk.3	A6NED2		ENST00000394258.2:c.537G>A	15.37:g.91500713G>A						RCCD1_uc002bqk.2_Silent_p.V179V|RCCD1_uc002bql.2_Silent_p.V179V|RCCD1_uc010bob.2_Intron	p.V179V	NM_033544	NP_291022	A6NED2	RCCD1_HUMAN	Lung(145;0.189)		4	817	+	Lung NSC(78;0.0987)|all_lung(78;0.175)		179	RLPLLPCARAYVSPRAPFYRPLAPELRARQLELGAEHALLL DAAGQVFSWGGGR -> GGAAGGLVRLRFLRLRAGAGLRTR APGAQPQSAAGGRRHLPRERELELHRFRDP (in Ref. 3; AAI13827).		RCC1 2.		B2RTP9|Q29RX6	Silent	SNP	ENST00000394258.2	37	c.537G>A	CCDS32333.1																																																																																				0.706	RCCD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414748.1		NM_033544		3	5	0	0	0	0.009096	0	3	5		
NR2F2	7026	broad.mit.edu	37	15	96877679	96877679	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr15:96877679G>T	ENST00000394166.3	+	2	2206	c.817G>T	c.(817-819)Gcc>Tcc	p.A273S	NR2F2_ENST00000421109.2_Missense_Mutation_p.A140S|MIR1469_ENST00000410719.1_RNA|NR2F2_ENST00000394171.2_Missense_Mutation_p.A120S|NR2F2_ENST00000453270.2_Missense_Mutation_p.A120S	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	273	Interaction with ZFPM2. {ECO:0000250}.|Ligand-binding. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|blood vessel morphogenesis (GO:0048514)|fertilization (GO:0009566)|forebrain development (GO:0030900)|intracellular receptor signaling pathway (GO:0030522)|limb development (GO:0060173)|lipid metabolic process (GO:0006629)|maternal placenta development (GO:0001893)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|radial pattern formation (GO:0009956)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			CCTGGCCGCCGCCGGCCTGCA	0.652																																						uc010uri.1		NaN																	0				ovary(2)|breast(1)	3						c.(817-819)GCC>TCC		nuclear receptor subfamily 2, group F, member 2							36.0	36.0	36.0					15																	96877679		2194	4297	6491	SO:0001583	missense	7026				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding	g.chr15:96877679G>T	M64497	CCDS10375.1, CCDS45358.1, CCDS45359.1	15q26	2013-01-16			ENSG00000185551	ENSG00000185551		"""Nuclear hormone receptors"""	7976	protein-coding gene	gene with protein product		107773		ARP1, TFCOUP2		8530078, 11544252	Standard	NM_021005		Approved	COUP-TFII, COUPTFB, SVP40, NF-E3	uc010uri.2	P24468	OTTHUMG00000149848	ENST00000394166.3:c.817G>T	15.37:g.96877679G>T	ENSP00000377721:p.Ala273Ser					NR2F2_uc002btp.2_Missense_Mutation_p.A140S|NR2F2_uc010urj.1_Missense_Mutation_p.A120S|NR2F2_uc010urk.1_Missense_Mutation_p.A120S	p.A273S	NM_021005	NP_066285	P24468	COT2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0856)		2	2041	+	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		273			Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).		B4DQJ2|B6ZGU1|Q03754|Q3KQR7	Missense_Mutation	SNP	ENST00000394166.3	37	c.817G>T	CCDS10375.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211926	0.79240	.	.	ENSG00000185551	ENST00000421109;ENST00000394166;ENST00000394171;ENST00000453270	T;T;D;D	0.96491	0.9;0.9;-4.03;-4.03	5.09	5.09	0.68999	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.94411	0.8202	L	0.28115	0.83	0.80722	D	1	P;B	0.35542	0.508;0.062	B;B	0.42692	0.395;0.092	D	0.93903	0.7190	10	0.41790	T	0.15	.	18.4813	0.90812	0.0:0.0:1.0:0.0	.	273;140	P24468;Q3KQR7	COT2_HUMAN;.	S	140;273;120;120	ENSP00000401674:A140S;ENSP00000377721:A273S;ENSP00000377726:A120S;ENSP00000389853:A120S	ENSP00000377721:A273S	A	+	1	0	NR2F2	94678683	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	8.009000	0.88606	2.376000	0.81061	0.655000	0.94253	GCC		0.652	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313534.1				36	50	1	0	4.65686e-17	0.017118	5.51079e-17	36	50		
SOX8	30812	broad.mit.edu	37	16	1034810	1034810	+	Silent	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr16:1034810G>T	ENST00000293894.3	+	3	880	c.765G>T	c.(763-765)ggG>ggT	p.G255G		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	255					adipose tissue development (GO:0060612)|astrocyte fate commitment (GO:0060018)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|enteric nervous system development (GO:0048484)|fat cell differentiation (GO:0045444)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of gliogenesis (GO:0014015)|positive regulation of kidney development (GO:0090184)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone levels (GO:0010817)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|ureter morphogenesis (GO:0072197)	cytoplasm (GO:0005737)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				TGGACAGCGGGCGCCAGAACA	0.682																																						uc002ckn.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(763-765)GGG>GGT		SRY (sex determining region Y)-box 8							30.0	28.0	28.0					16																	1034810		2197	4294	6491	SO:0001819	synonymous_variant	30812				adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus		g.chr16:1034810G>T	AF164104	CCDS10428.1	16p13.3	2008-05-23			ENSG00000005513	ENSG00000005513		"""SRY (sex determining region Y)-boxes"""	11203	protein-coding gene	gene with protein product		605923				10662550, 10684944	Standard	NM_014587		Approved		uc002ckn.3	P57073	OTTHUMG00000122101	ENST00000293894.3:c.765G>T	16.37:g.1034810G>T							p.G255G	NM_014587	NP_055402	P57073	SOX8_HUMAN			3	880	+		Hepatocellular(780;0.00308)	255					Q9NZW2	Silent	SNP	ENST00000293894.3	37	c.765G>T	CCDS10428.1																																																																																				0.682	SOX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242867.1				28	21	1	0	3.65163e-15	0.00632	4.2222e-15	28	21		
PKD1	5310	broad.mit.edu	37	16	2168842	2168842	+	Silent	SNP	G	G	A	rs551684367		TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr16:2168842G>A	ENST00000262304.4	-	4	572	c.364C>T	c.(364-366)Ctg>Ttg	p.L122L	RP11-304L19.2_ENST00000562027.1_RNA|PKD1_ENST00000423118.1_Silent_p.L122L	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	122					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TTCCCACTCAGGTTTCTGCAG	0.682																																						uc002cos.1		NaN																	0				central_nervous_system(2)|skin(1)	3						c.(364-366)CTG>TTG		polycystin 1 isoform 1 precursor							20.0	15.0	17.0					16																	2168842		2051	3870	5921	SO:0001819	synonymous_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2168842G>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.364C>T	16.37:g.2168842G>A						PKD1_uc002cot.1_Silent_p.L122L	p.L122L	NM_001009944	NP_001009944	P98161	PKD1_HUMAN			4	573	-			122			Extracellular (Potential).		Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	c.364C>T	CCDS32369.1																																																																																				0.682	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1				8	38	0	0	0	0.006214	0	8	38		
ZSCAN10	84891	broad.mit.edu	37	16	3140433	3140433	+	Silent	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr16:3140433C>A	ENST00000252463.2	-	5	924	c.837G>T	c.(835-837)gtG>gtT	p.V279V	ZSCAN10_ENST00000538082.2_Silent_p.V197V|ZSCAN10_ENST00000575108.1_5'UTR	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	279					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|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)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CGCCCTCAGCCACTTTGACCT	0.652																																						uc002ctv.1		NaN																	0				ovary(1)	1						c.(835-837)GTG>GTT		zinc finger and SCAN domain containing 10							75.0	79.0	78.0					16																	3140433		2185	4272	6457	SO:0001819	synonymous_variant	84891				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3140433C>A	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"""-"", ""Zinc fingers, C2H2-type"""	12997	protein-coding gene	gene with protein product			"""zinc finger protein 206"""	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.837G>T	16.37:g.3140433C>A						ZSCAN10_uc002cty.1_5'UTR|ZSCAN10_uc002ctw.1_Silent_p.V197V|ZSCAN10_uc002ctx.1_Silent_p.V207V	p.V279V	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN			5	925	-			279					B3KQD3|H0YFS6|Q1WWM2	Silent	SNP	ENST00000252463.2	37	c.837G>T	CCDS10493.1																																																																																				0.652	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2		NM_032805		95	135	1	0	1.70349e-48	0.01441	2.38145e-48	95	135		
NLRC3	197358	broad.mit.edu	37	16	3613643	3613643	+	RNA	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr16:3613643C>A	ENST00000301749.7	-	0	1700				NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000359128.5_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCACGGGGCGCCCTGCAGCAG	0.587																																						uc010btn.2		NaN																	0				ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						c.(1294-1296)GGC>GTC		NOD3 protein							49.0	52.0	51.0					16																	3613643		2047	4179	6226			197358				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	g.chr16:3613643C>A	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3613643C>A							p.G432V	NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN			5	1706	-			432			NACHT.		Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Missense_Mutation	SNP	ENST00000301749.7	37	c.1295G>T		.	.	.	.	.	.	.	.	.	.	C	6.410	0.443729	0.12164	.	.	ENSG00000167984	ENST00000419350;ENST00000301749;ENST00000359128;ENST00000448023;ENST00000324659	D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78	5.35	2.1	0.27182	.	0.629307	0.17211	N	0.182740	T	0.75309	0.3832	.	.	.	0.38662	D	0.952102	B	0.20459	0.045	B	0.19946	0.027	T	0.71606	-0.4542	9	0.59425	D	0.04	.	8.7995	0.34901	0.0:0.6128:0.3037:0.0834	.	479	C9JLH9	.	V	432;432;432;479;414	ENSP00000301749:G432V;ENSP00000352039:G432V;ENSP00000414415:G479V;ENSP00000323897:G414V	ENSP00000301749:G432V	G	-	2	0	NLRC3	3553644	0.011000	0.17503	0.170000	0.22879	0.076000	0.17211	2.089000	0.41672	0.616000	0.30141	0.655000	0.94253	GGC		0.587	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene			NM_178844		19	19	1	0	1.01871e-10	0.008871	1.11516e-10	19	19		
USP7	7874	broad.mit.edu	37	16	9014215	9014215	+	Splice_Site	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr16:9014215C>T	ENST00000344836.4	-	5	810		c.e5+1		USP7_ENST00000535863.1_Splice_Site|USP7_ENST00000381886.4_Splice_Site|USP7_ENST00000566224.1_5'Flank	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)						maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						GAAAAACTTACGCAACTCCAT	0.378																																						uc002czl.2		NaN																	0				ovary(3)	3						c.e5+1		ubiquitin specific peptidase 7							97.0	95.0	95.0					16																	9014215		2197	4300	6497	SO:0001630	splice_region_variant	7874				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:9014215C>T	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.611+1G>A	16.37:g.9014215C>T						USP7_uc010uyk.1_Splice_Site_p.A105_splice|USP7_uc010uyj.1_Splice_Site_p.A105_splice|USP7_uc002czk.2_Splice_Site_p.A188_splice|USP7_uc010uyl.1_Splice_Site	p.A204_splice	NM_003470	NP_003461	Q93009	UBP7_HUMAN			5	810	-								A6NMY8|B7Z815|H0Y3G8	Splice_Site	SNP	ENST00000344836.4	37	c.611_splice	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.010097	0.93346	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863;ENST00000544549;ENST00000542333	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6876	0.95986	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	USP7	8921716	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.726000	0.84824	2.659000	0.90383	0.655000	0.94253	.		0.378	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			Intron	37	51	0	0	0	0.005524	0	37	51		
NTAN1	123803	broad.mit.edu	37	16	15133844	15133844	+	Silent	SNP	T	T	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr16:15133844T>A	ENST00000287706.3	-	8	713	c.621A>T	c.(619-621)cgA>cgT	p.R207R	PDXDC1_ENST00000535621.2_Intron	NM_001270766.1|NM_173474.3	NP_001257695.1|NP_775745.1	Q96AB6	NTAN1_HUMAN	N-terminal asparagine amidase	207					adult locomotory behavior (GO:0008344)|memory (GO:0007613)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein-N-terminal asparagine amidohydrolase activity (GO:0008418)			endometrium(1)|large_intestine(4)|lung(3)	8						CTGCTAAAGTTCGCGCAGCAC	0.443																																						uc002ddd.2		NaN																	0					0						c.(619-621)CGA>CGT		N-terminal Asn amidase							118.0	129.0	125.0					16																	15133844		2197	4300	6497	SO:0001819	synonymous_variant	123803					cytoplasm		g.chr16:15133844T>A	AF092440	CCDS10558.1, CCDS73832.1	16p13	2008-02-05			ENSG00000157045	ENSG00000157045			29909	protein-coding gene	gene with protein product		615367				8910481	Standard	NM_173474		Approved		uc002ddd.4	Q96AB6	OTTHUMG00000129849	ENST00000287706.3:c.621A>T	16.37:g.15133844T>A						PDXDC1_uc002ddc.2_Intron|NTAN1_uc010uzo.1_Silent_p.R102R	p.R207R	NM_173474	NP_775745	Q96AB6	NTAN1_HUMAN			8	626	-			207					Q7Z4Z0	Silent	SNP	ENST00000287706.3	37	c.621A>T	CCDS10558.1																																																																																				0.443	NTAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252089.1		NM_173474		129	154	0	0	0	0.01441	0	129	154		
ABCC1	4363	broad.mit.edu	37	16	16130386	16130386	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr16:16130386C>T	ENST00000399410.3	+	7	910	c.735C>T	c.(733-735)aaC>aaT	p.N245N	ABCC1_ENST00000345148.5_Silent_p.N245N|ABCC1_ENST00000346370.5_Silent_p.N245N|ABCC1_ENST00000351154.5_Silent_p.N245N|ABCC1_ENST00000349029.5_Silent_p.N245N|ABCC1_ENST00000399408.2_Silent_p.N245N	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	245					arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	GGTCCTTAAACAAGGAGGACA	0.532																																						uc010bvi.2		NaN																	0				ovary(4)	4						c.(733-735)AAC>AAT		ATP-binding cassette, sub-family C, member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						82.0	78.0	79.0					16																	16130386		1931	4135	6066	SO:0001819	synonymous_variant	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16130386C>T	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.735C>T	16.37:g.16130386C>T						ABCC1_uc010bvj.2_Silent_p.N245N|ABCC1_uc010bvk.2_Silent_p.N245N|ABCC1_uc010bvl.2_Silent_p.N245N|ABCC1_uc010bvm.2_Silent_p.N245N|ABCC1_uc002del.3_Silent_p.N129N|ABCC1_uc010bvn.2_Silent_p.N108N	p.N245N	NM_004996	NP_004987	P33527	MRP1_HUMAN			7	910	+			245			Cytoplasmic.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Silent	SNP	ENST00000399410.3	37	c.735C>T	CCDS42122.1																																																																																				0.532	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1		NM_004996		66	74	0	0	0	0.01441	0	66	74		
GPR139	124274	broad.mit.edu	37	16	20084882	20084882	+	Silent	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr16:20084882G>T	ENST00000570682.1	-	1	357	c.57C>A	c.(55-57)ccC>ccA	p.P19P		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	19					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						AGGCCGAGCCGGGGGACCACC	0.697																																						uc002dgu.1		NaN																	0				ovary(2)	2						c.(55-57)CCC>CCA		G protein-coupled receptor 139							28.0	30.0	29.0					16																	20084882		2202	4299	6501	SO:0001819	synonymous_variant	124274					integral to membrane|plasma membrane		g.chr16:20084882G>T	AY255545	CCDS32398.1	16p13.11	2012-08-21						"""GPCR / Class A : Orphans"""	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.57C>A	16.37:g.20084882G>T						GPR139_uc010vaw.1_5'UTR	p.P19P	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN			1	219	-			19			Extracellular (Potential).		A8K5R9|Q86SP2|Q8TDU8	Silent	SNP	ENST00000570682.1	37	c.57C>A	CCDS32398.1																																																																																				0.697	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1		NM_001002911		15	5	1	0	1.2644e-06	0.010504	1.31674e-06	15	5		
SCNN1B	6338	broad.mit.edu	37	16	23388689	23388689	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr16:23388689G>A	ENST00000343070.2	+	10	1562	c.1386G>A	c.(1384-1386)tgG>tgA	p.W462*	SCNN1B_ENST00000568923.1_Nonsense_Mutation_p.W435*|SCNN1B_ENST00000568085.1_Nonsense_Mutation_p.W426*|SCNN1B_ENST00000307331.5_Nonsense_Mutation_p.W507*	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	462					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	TGGCTGACTGGCCTTCTGAGG	0.587																																						uc002dln.2		NaN																	0				ovary(3)|breast(2)|large_intestine(1)|pancreas(1)	7						c.(1384-1386)TGG>TGA		sodium channel, nonvoltage-gated 1, beta	Amiloride(DB00594)|Triamterene(DB00384)						91.0	81.0	84.0					16																	23388689		2197	4300	6497	SO:0001587	stop_gained	6338				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23388689G>A	X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10600	protein-coding gene	gene with protein product	"""Liddle syndrome"""	600760	"""sodium channel, nonvoltage-gated 1, beta"", ""sodium channel, non-voltage-gated 1, beta"""				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.1386G>A	16.37:g.23388689G>A	ENSP00000345751:p.Trp462*						p.W462*	NM_000336	NP_000327	P51168	SCNNB_HUMAN		GBM - Glioblastoma multiforme(48;0.0465)	10	1562	+			462			Extracellular (By similarity).		C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Nonsense_Mutation	SNP	ENST00000343070.2	37	c.1386G>A	CCDS10609.1	.	.	.	.	.	.	.	.	.	.	G	37	6.153409	0.97329	.	.	ENSG00000168447	ENST00000343070;ENST00000307331	.	.	.	4.73	4.73	0.59995	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.6085	16.7054	0.85370	0.0:0.0:1.0:0.0	.	.	.	.	X	462;507	.	ENSP00000302874:W507X	W	+	3	0	SCNN1B	23296190	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	6.750000	0.74888	2.164000	0.68074	0.492000	0.49549	TGG		0.587	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2				34	55	0	0	0	0.00623	0	34	55		
GTF3C1	2975	broad.mit.edu	37	16	27475764	27475764	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr16:27475764C>T	ENST00000356183.4	-	34	5764	c.5749G>A	c.(5749-5751)Gaa>Aaa	p.E1917K	GTF3C1_ENST00000561623.1_Missense_Mutation_p.E1917K	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1917					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCGGTGTCTTCAAGAGCTGGG	0.652																																						uc002dov.1		NaN																	0				ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(5749-5751)GAA>AAA		general transcription factor IIIC, polypeptide							82.0	91.0	88.0					16																	27475764		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27475764C>T	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.5749G>A	16.37:g.27475764C>T	ENSP00000348510:p.Glu1917Lys					GTF3C1_uc002dou.2_Missense_Mutation_p.E1917K	p.E1917K	NM_001520	NP_001511	Q12789	TF3C1_HUMAN			34	5789	-			1917					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.5749G>A	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	C	9.074	0.997603	0.19043	.	.	ENSG00000077235	ENST00000356183	T	0.23552	1.9	4.77	1.27	0.21489	.	0.589588	0.17056	N	0.188734	T	0.17195	0.0413	L	0.48362	1.52	0.09310	N	1	B;B	0.27068	0.104;0.167	B;B	0.27170	0.023;0.077	T	0.25950	-1.0117	10	0.12766	T	0.61	-17.7414	5.3084	0.15817	0.1731:0.6277:0.0:0.1992	.	1917;1917	Q12789;Q12789-3	TF3C1_HUMAN;.	K	1917	ENSP00000348510:E1917K	ENSP00000348510:E1917K	E	-	1	0	GTF3C1	27383265	0.000000	0.05858	0.002000	0.10522	0.186000	0.23388	-0.072000	0.11486	0.440000	0.26502	0.462000	0.41574	GAA		0.652	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1		NM_001520		107	104	0	0	0	0.01441	0	107	104		
GTF3C1	2975	broad.mit.edu	37	16	27556790	27556790	+	Silent	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr16:27556790C>G	ENST00000356183.4	-	2	291	c.276G>C	c.(274-276)gtG>gtC	p.V92V	GTF3C1_ENST00000561623.1_Silent_p.V92V	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	92					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CCTCCAAAGCCACCGGGTCCC	0.423																																						uc002dov.1		NaN																	0				ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(274-276)GTG>GTC		general transcription factor IIIC, polypeptide							97.0	85.0	89.0					16																	27556790		2197	4300	6497	SO:0001819	synonymous_variant	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27556790C>G	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.276G>C	16.37:g.27556790C>G						GTF3C1_uc002dou.2_Silent_p.V92V	p.V92V	NM_001520	NP_001511	Q12789	TF3C1_HUMAN			2	316	-			92					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Silent	SNP	ENST00000356183.4	37	c.276G>C	CCDS32414.1																																																																																				0.423	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1		NM_001520		37	39	0	0	0	0.021022	0	37	39		
CLN3	1201	broad.mit.edu	37	16	28493802	28493802	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr16:28493802C>A	ENST00000569430.1	-	13	1721	c.902G>T	c.(901-903)gGa>gTa	p.G301V	CLN3_ENST00000357806.7_Missense_Mutation_p.G202V|CLN3_ENST00000567963.1_Missense_Mutation_p.G301V|CLN3_ENST00000357076.5_Missense_Mutation_p.G191V|CLN3_ENST00000535392.1_Missense_Mutation_p.G223V|CLN3_ENST00000395653.4_Missense_Mutation_p.G201V|CLN3_ENST00000333496.9_Missense_Mutation_p.G277V|CLN3_ENST00000565316.1_Intron|CLN3_ENST00000568224.1_Missense_Mutation_p.G223V|CLN3_ENST00000360019.2_Missense_Mutation_p.G301V|CLN3_ENST00000359984.7_Missense_Mutation_p.G301V|CLN3_ENST00000355477.5_Missense_Mutation_p.G253V|CLN3_ENST00000354630.5_Intron|CLN3_ENST00000357857.9_Missense_Mutation_p.G247V			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	301					action potential (GO:0001508)|amyloid precursor protein catabolic process (GO:0042987)|arginine transport (GO:0015809)|associative learning (GO:0008306)|autophagic vacuole fusion (GO:0000046)|cell death (GO:0008219)|cellular amino acid metabolic process (GO:0006520)|ceramide metabolic process (GO:0006672)|cytosolic calcium ion homeostasis (GO:0051480)|galactosylceramide metabolic process (GO:0006681)|globoside metabolic process (GO:0001575)|glucosylceramide metabolic process (GO:0006678)|ionotropic glutamate receptor signaling pathway (GO:0035235)|lysosomal lumen acidification (GO:0007042)|lysosomal lumen pH elevation (GO:0035752)|lysosome organization (GO:0007040)|macroautophagy (GO:0016236)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of macroautophagy (GO:0016242)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteolysis (GO:0045861)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter metabolic process (GO:0042133)|protein catabolic process (GO:0030163)|protein processing (GO:0016485)|receptor-mediated endocytosis (GO:0006898)|sphingomyelin metabolic process (GO:0006684)|vacuolar transport (GO:0007034)|vesicle transport along microtubule (GO:0047496)	autophagic vacuole (GO:0005776)|caveola (GO:0005901)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						ACTTACAAGTCCCTGGTTAAT	0.542																																						uc002dpo.2		NaN																	0					0						c.(901-903)GGA>GTA		ceroid-lipofuscinosis, neuronal 3							83.0	81.0	81.0					16																	28493802		2197	4300	6497	SO:0001583	missense	1201				amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding	g.chr16:28493802C>A	U32680	CCDS10632.1, CCDS73852.1, CCDS73853.1, CCDS73854.1, CCDS73855.1	16p12	2014-09-17	2008-07-29		ENSG00000188603	ENSG00000188603			2074	protein-coding gene	gene with protein product	"""juvenile neuronal ceroid lipofuscinosis"""	607042	"""Batten, Spielmeyer-Vogt disease"""	BTS		18317235	Standard	NM_001042432		Approved	JNCL	uc002dpp.3	Q13286	OTTHUMG00000097024	ENST00000569430.1:c.902G>T	16.37:g.28493802C>A	ENSP00000454229:p.Gly301Val					uc010vct.1_Intron|CLN3_uc002dpl.2_Missense_Mutation_p.G223V|CLN3_uc010vcu.1_Missense_Mutation_p.G201V|CLN3_uc002dpn.2_Missense_Mutation_p.G202V|CLN3_uc002dpm.2_Missense_Mutation_p.G247V|CLN3_uc010vcv.1_Missense_Mutation_p.G277V|CLN3_uc010byd.2_Missense_Mutation_p.G301V|CLN3_uc002dpp.2_Missense_Mutation_p.G301V|CLN3_uc002dpt.1_Missense_Mutation_p.G201V|CLN3_uc002dpq.1_Missense_Mutation_p.G253V|CLN3_uc010bye.1_Intron|CLN3_uc002dpr.1_RNA|CLN3_uc010byf.1_RNA|CLN3_uc002dps.1_Missense_Mutation_p.G174V|CLN3_uc002dpu.1_Missense_Mutation_p.G199V|CLN3_uc002dpw.1_Missense_Mutation_p.G148V|CLN3_uc010vcw.1_Missense_Mutation_p.G247V|CLN3_uc002dqa.2_3'UTR|CLN3_uc010vcx.1_3'UTR|CLN3_uc002dpx.1_Missense_Mutation_p.G178V|CLN3_uc002dpy.1_Missense_Mutation_p.G145V	p.G301V	NM_000086	NP_000077	Q13286	CLN3_HUMAN			11	1225	-			301					B2R7J1|O00668|O95089|Q549S9|Q9UP09|Q9UP11|Q9UP12|Q9UP13|Q9UP14	Missense_Mutation	SNP	ENST00000569430.1	37	c.902G>T	CCDS10632.1	.	.	.	.	.	.	.	.	.	.	c	27.9	4.875722	0.91664	.	.	ENSG00000188603	ENST00000535392;ENST00000359984;ENST00000360019;ENST00000355477;ENST00000357857;ENST00000395653;ENST00000357806;ENST00000357076	T;T;T;T;T;T;T;D	0.96104	0.2;0.2;0.2;0.2;0.2;0.2;0.2;-3.91	5.5	5.5	0.81552	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.98216	0.9410	M	0.93375	3.41	0.58432	D	0.999991	P;P;P;D;P;D;D;D	0.89917	0.95;0.713;0.871;0.984;0.95;0.964;0.986;1.0	P;P;P;D;P;P;D;D	0.81914	0.836;0.802;0.908;0.921;0.873;0.747;0.943;0.995	D	0.99091	1.0840	10	0.87932	D	0	-8.01	14.9018	0.70684	0.0:1.0:0.0:0.0	.	277;301;199;201;247;253;301;202	B4DXL3;Q13286-4;O95086;B4DMY6;B4DFF3;Q13286-2;Q13286;O95089	.;.;.;.;.;.;CLN3_HUMAN;.	V	223;301;301;253;247;201;202;191	ENSP00000443221:G223V;ENSP00000353073:G301V;ENSP00000353116:G301V;ENSP00000347660:G253V;ENSP00000350523:G247V;ENSP00000379014:G201V;ENSP00000350457:G202V;ENSP00000349586:G191V	ENSP00000347660:G253V	G	-	2	0	CLN3	28401303	0.999000	0.42202	0.995000	0.50966	0.966000	0.64601	4.602000	0.61098	2.594000	0.87642	0.556000	0.70494	GGA		0.542	CLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214115.2				15	102	1	0	9.16793e-09	0.00499	9.76622e-09	15	102		
RABEP2	79874	broad.mit.edu	37	16	28925724	28925724	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr16:28925724C>A	ENST00000358201.4	-	5	1315	c.727G>T	c.(727-729)Gtc>Ttc	p.V243F	RABEP2_ENST00000544477.1_Missense_Mutation_p.V172F|RABEP2_ENST00000561803.1_5'Flank|RABEP2_ENST00000357573.6_Missense_Mutation_p.V243F	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	243					endocytosis (GO:0006897)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						CTGCTGCCGACCCCACCGCCA	0.672																																					Pancreas(66;639 1284 10093 31061 49099)	uc002drq.2		NaN																	0				ovary(1)|breast(1)|skin(1)	3						c.(727-729)GTC>TTC		rabaptin, RAB GTPase binding effector protein 2							20.0	25.0	23.0					16																	28925724		2045	4194	6239	SO:0001583	missense	79874				endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity	g.chr16:28925724C>A	AK026935	CCDS42140.1	16p11.2	2014-09-11			ENSG00000177548	ENSG00000177548			24817	protein-coding gene	gene with protein product		611869				12477932	Standard	NM_024816		Approved	FRA, FLJ23282	uc002drq.3	Q9H5N1	OTTHUMG00000176593	ENST00000358201.4:c.727G>T	16.37:g.28925724C>A	ENSP00000350934:p.Val243Phe					uc010vct.1_Intron|RABEP2_uc010vdf.1_Missense_Mutation_p.V172F|RABEP2_uc010byn.2_Missense_Mutation_p.V243F|RABEP2_uc002drr.2_Missense_Mutation_p.V243F	p.V243F	NM_024816	NP_079092	Q9H5N1	RABE2_HUMAN			5	775	-			243						Missense_Mutation	SNP	ENST00000358201.4	37	c.727G>T	CCDS42140.1	.	.	.	.	.	.	.	.	.	.	C	1.706	-0.500191	0.04291	.	.	ENSG00000177548	ENST00000358201;ENST00000357573;ENST00000544477	T;T;T	0.40476	1.05;1.04;1.03	5.27	3.17	0.36434	.	0.907386	0.09385	N	0.809437	T	0.19846	0.0477	N	0.03608	-0.345	0.09310	N	1	P;B;B;B	0.38642	0.641;0.041;0.07;0.229	B;B;B;B	0.31614	0.133;0.006;0.058;0.054	T	0.07927	-1.0747	10	0.72032	D	0.01	-1.9818	9.9144	0.41425	0.1425:0.5801:0.2774:0.0	.	172;243;243;243	B4DHR0;Q9H5N1-2;Q49AT6;Q9H5N1	.;.;.;RABE2_HUMAN	F	243;243;172	ENSP00000350934:V243F;ENSP00000350186:V243F;ENSP00000442798:V172F	ENSP00000350186:V243F	V	-	1	0	RABEP2	28833225	0.010000	0.17322	0.023000	0.16930	0.261000	0.26267	0.286000	0.18902	1.186000	0.42985	0.462000	0.41574	GTC		0.672	RABEP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432691.1		NM_024816		37	32	1	0	3.76114e-14	0.019004	4.29512e-14	37	32		
SEPT1	1731	broad.mit.edu	37	16	30392504	30392504	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr16:30392504C>A	ENST00000571393.1	-	7	688	c.502G>T	c.(502-504)Gtc>Ttc	p.V168F	SEPT1_ENST00000570039.1_5'Flank|SEPT1_ENST00000321367.3_Missense_Mutation_p.V215F|SEPT1_ENST00000605106.1_Missense_Mutation_p.V173F			Q8WYJ6	SEPT1_HUMAN	septin 1	168	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			TTGCCAATGACTGGGATGATG	0.582																																						uc002dxy.2		NaN																	0				ovary(1)	1						c.(502-504)GTC>TTC		septin 1							179.0	162.0	167.0					16																	30392504		2197	4300	6497	SO:0001583	missense	1731				cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding	g.chr16:30392504C>A	AF308288	CCDS10678.1, CCDS10678.2, CCDS10678.3	16p11.2	2013-01-21		2001-09-10	ENSG00000180096	ENSG00000180096	3.1.5.1	"""Septins"""	2879	protein-coding gene	gene with protein product		612897		DIFF6		8697812	Standard	NM_052838		Approved	PNUTL3	uc002dxy.4	Q8WYJ6	OTTHUMG00000176984	ENST00000571393.1:c.502G>T	16.37:g.30392504C>A	ENSP00000460441:p.Val168Phe					SEPT1_uc002dxw.2_5'Flank|SEPT1_uc002dxx.2_5'UTR|SEPT1_uc010veq.1_3'UTR	p.V168F	NM_052838	NP_443070	Q8WYJ6	SEPT1_HUMAN	Colorectal(24;0.193)		7	689	-			168					B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	Missense_Mutation	SNP	ENST00000571393.1	37	c.502G>T		.	.	.	.	.	.	.	.	.	.	C	16.99	3.274519	0.59649	.	.	ENSG00000180096	ENST00000321367	.	.	.	5.93	5.93	0.95920	.	0.000000	0.56097	D	0.000023	D	0.86661	0.5986	H	0.95187	3.635	0.58432	D	0.999996	D	0.71674	0.998	D	0.74348	0.983	D	0.89798	0.3973	9	0.87932	D	0	.	14.6954	0.69118	0.0:0.8549:0.1451:0.0	.	168	Q8WYJ6	SEPT1_HUMAN	F	168	.	ENSP00000324511:V168F	V	-	1	0	SEPT1	30300005	0.601000	0.26907	0.993000	0.49108	0.392000	0.30506	1.301000	0.33447	2.815000	0.96918	0.561000	0.74099	GTC		0.582	SEPT1-201	KNOWN	basic	protein_coding	protein_coding			NM_052838		56	92	1	0	4.96213e-28	0.01441	6.41954e-28	56	92		
ZNF668	79759	broad.mit.edu	37	16	31073488	31073488	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr16:31073488C>T	ENST00000538906.1	-	3	1545	c.761G>A	c.(760-762)tGc>tAc	p.C254Y	ZNF668_ENST00000535577.1_Missense_Mutation_p.C254Y|ZNF668_ENST00000426488.2_Missense_Mutation_p.C277Y|ZNF668_ENST00000564456.1_5'Flank|ZNF668_ENST00000300849.4_Missense_Mutation_p.C254Y|ZNF668_ENST00000539836.3_Missense_Mutation_p.C277Y|ZNF668_ENST00000394983.2_Missense_Mutation_p.C254Y	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	254					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(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCAGGCCGGGCAGCGGTAGGG	0.697																																					Colon(181;1111 1980 5060 10512 25785)	uc010caf.2		NaN																	0				breast(4)	4						c.(760-762)TGC>TAC		zinc finger protein 668							35.0	38.0	37.0					16																	31073488		2197	4298	6495	SO:0001583	missense	79759				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31073488C>T		CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"""Zinc fingers, C2H2-type"""	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.761G>A	16.37:g.31073488C>T	ENSP00000440149:p.Cys254Tyr					ZNF668_uc002eao.2_Missense_Mutation_p.C254Y	p.C254Y	NM_024706	NP_078982	Q96K58	ZN668_HUMAN			3	1118	-			254			C2H2-type 8.		C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	ENST00000538906.1	37	c.761G>A	CCDS10701.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.315661	0.81469	.	.	ENSG00000167394	ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849	D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94	5.02	5.02	0.67125	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.94778	0.8314	H	0.95645	3.7	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.96136	0.9096	10	0.87932	D	0	-31.8798	17.2644	0.87081	0.0:1.0:0.0:0.0	.	254	Q96K58	ZN668_HUMAN	Y	277;254;254;254;254	ENSP00000442573:C277Y;ENSP00000441349:C254Y;ENSP00000440149:C254Y;ENSP00000378434:C254Y;ENSP00000300849:C254Y	ENSP00000300849:C254Y	C	-	2	0	ZNF668	30980989	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	7.810000	0.86072	2.584000	0.87258	0.655000	0.94253	TGC		0.697	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2		NM_024706		35	39	0	0	0	0.021022	0	35	39		
ZNF646	9726	broad.mit.edu	37	16	31088322	31088322	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr16:31088322A>G	ENST00000394979.2	+	1	1100	c.677A>G	c.(676-678)gAg>gGg	p.E226G	ZNF646_ENST00000300850.5_Missense_Mutation_p.E226G|ZNF668_ENST00000564456.1_5'Flank|ZNF668_ENST00000300849.4_5'Flank			O15015	ZN646_HUMAN	zinc finger protein 646	226					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(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GGGGGCCAGGAGCCCACCCAG	0.602																																						uc002eap.2		NaN																	0				breast(2)	2						c.(676-678)GAG>GGG		zinc finger protein 646							46.0	48.0	47.0					16																	31088322		2197	4300	6497	SO:0001583	missense	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31088322A>G	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.677A>G	16.37:g.31088322A>G	ENSP00000378429:p.Glu226Gly					ZNF668_uc002eao.2_5'Flank	p.E226G	NM_014699	NP_055514	O15015	ZN646_HUMAN			2	966	+			226					Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37	c.677A>G		.	.	.	.	.	.	.	.	.	.	A	10.52	1.373066	0.24857	.	.	ENSG00000167395	ENST00000428260;ENST00000300850;ENST00000394979	T;T;T	0.09163	3.26;3.01;3.04	5.82	3.48	0.39840	.	.	.	.	.	T	0.06645	0.0170	N	0.19112	0.55	0.24522	N	0.994154	B	0.11235	0.004	B	0.11329	0.006	T	0.32161	-0.9917	9	0.41790	T	0.15	-14.6401	3.9239	0.09256	0.5422:0.0:0.1082:0.3496	.	226	O15015-2	.	G	226	ENSP00000391271:E226G;ENSP00000300850:E226G;ENSP00000378429:E226G	ENSP00000300850:E226G	E	+	2	0	ZNF646	30995823	0.003000	0.15002	0.975000	0.42487	0.373000	0.29922	0.617000	0.24359	0.988000	0.38734	0.533000	0.62120	GAG		0.602	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2		NM_014699		39	42	0	0	0	0.006999	0	39	42		
MYLK3	91807	broad.mit.edu	37	16	46764580	46764580	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr16:46764580T>C	ENST00000394809.4	-	5	1608	c.1493A>G	c.(1492-1494)gAa>gGa	p.E498G	MYLK3_ENST00000536476.1_Missense_Mutation_p.E157G	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	498					cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TACCCGGTGTTCAAAAGGAGC	0.602																																						uc002eei.3		NaN																	0				stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	7						c.(1492-1494)GAA>GGA		myosin light chain kinase 3							135.0	120.0	125.0					16																	46764580		2203	4300	6503	SO:0001583	missense	91807				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr16:46764580T>C	AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"""MLC kinase"""	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.1493A>G	16.37:g.46764580T>C	ENSP00000378288:p.Glu498Gly					MYLK3_uc010vge.1_Missense_Mutation_p.E157G|MYLK3_uc002eej.1_Missense_Mutation_p.E157G	p.E498G	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN			5	1609	-		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	498					B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Missense_Mutation	SNP	ENST00000394809.4	37	c.1493A>G	CCDS10723.2	.	.	.	.	.	.	.	.	.	.	T	15.14	2.745401	0.49151	.	.	ENSG00000140795	ENST00000394809;ENST00000536476	T;T	0.70045	-0.45;-0.4	5.26	5.26	0.73747	Protein kinase-like domain (1);	0.000000	0.36703	N	0.002449	T	0.66877	0.2834	M	0.71581	2.175	0.49299	D	0.999774	B;B	0.33345	0.249;0.409	B;B	0.33521	0.165;0.117	T	0.70382	-0.4887	10	0.62326	D	0.03	.	14.1468	0.65355	0.0:0.0:0.0:1.0	.	498;498	B5BUL9;Q32MK0	.;MYLK3_HUMAN	G	498;157	ENSP00000378288:E498G;ENSP00000439297:E157G	ENSP00000378288:E498G	E	-	2	0	MYLK3	45322081	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	7.618000	0.83043	1.984000	0.57885	0.482000	0.46254	GAA		0.602	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2		NM_182493		46	92	0	0	0	0.01441	0	46	92		
ABCC11	85320	broad.mit.edu	37	16	48248887	48248887	+	Missense_Mutation	SNP	G	G	C	rs142830864		TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr16:48248887G>C	ENST00000394747.1	-	8	1502	c.1153C>G	c.(1153-1155)Ctg>Gtg	p.L385V	ABCC11_ENST00000353782.5_Missense_Mutation_p.L385V|ABCC11_ENST00000394748.1_Missense_Mutation_p.L385V|ABCC11_ENST00000537808.1_Missense_Mutation_p.L385V|ABCC11_ENST00000356608.2_Missense_Mutation_p.L385V	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	385	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	ATACTTGTCAGGCTCTGGACA	0.448																																						uc002eff.1		NaN																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1153-1155)CTG>GTG		ATP-binding cassette, sub-family C, member 11							131.0	119.0	123.0					16																	48248887		2201	4300	6501	SO:0001583	missense	85320	Cerumen_Type				integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48248887G>C	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.1153C>G	16.37:g.48248887G>C	ENSP00000378230:p.Leu385Val					ABCC11_uc002efg.1_Missense_Mutation_p.L385V|ABCC11_uc002efh.1_Missense_Mutation_p.L385V|ABCC11_uc010vgk.1_RNA	p.L385V	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN			8	1503	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	385			ABC transmembrane type-1 1.|Helical; (Potential).		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	c.1153C>G	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	G	9.942	1.217728	0.22373	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	D;D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64;-2.64	4.55	1.22	0.21188	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.544077	0.16828	N	0.197896	D	0.90611	0.7056	L	0.54908	1.71	0.35983	D	0.836128	D;B	0.67145	0.996;0.115	D;B	0.80764	0.994;0.345	D	0.86648	0.1896	10	0.08179	T	0.78	-10.7221	5.6512	0.17616	0.4016:0.0:0.5984:0.0	.	385;385	Q96J66-2;Q96J66	.;ABCCB_HUMAN	V	385	ENSP00000311326:L385V;ENSP00000349017:L385V;ENSP00000378231:L385V;ENSP00000378230:L385V;ENSP00000438530:L385V	ENSP00000311326:L385V	L	-	1	2	ABCC11	46806388	1.000000	0.71417	0.983000	0.44433	0.176000	0.22953	0.421000	0.21280	0.260000	0.21731	0.650000	0.86243	CTG		0.448	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1		NM_032583		31	30	0	0	0	0.008361	0	31	30		
C16orf78	123970	broad.mit.edu	37	16	49407936	49407936	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr16:49407936C>A	ENST00000299191.3	+	1	203	c.86C>A	c.(85-87)tCt>tAt	p.S29Y		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	29						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						AGGCGCATGTCTGACCTCACC	0.502																																						uc002efr.2		NaN																	0				central_nervous_system(1)	1						c.(85-87)TCT>TAT		hypothetical protein LOC123970							131.0	117.0	122.0					16																	49407936		2199	4300	6499	SO:0001583	missense	123970							g.chr16:49407936C>A	BC021181	CCDS10738.1	16q12.1	2008-02-05			ENSG00000166152	ENSG00000166152			28479	protein-coding gene	gene with protein product						12477932	Standard	NM_144602		Approved	MGC33367	uc002efr.3	Q8WTQ4	OTTHUMG00000133149	ENST00000299191.3:c.86C>A	16.37:g.49407936C>A	ENSP00000299191:p.Ser29Tyr						p.S29Y	NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN			1	129	+			29						Missense_Mutation	SNP	ENST00000299191.3	37	c.86C>A	CCDS10738.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.168691	0.38315	.	.	ENSG00000166152	ENST00000299191	T	0.59224	0.28	3.66	3.66	0.41972	.	0.000000	0.42964	D	0.000627	T	0.63686	0.2532	L	0.34521	1.04	0.34444	D	0.699982	D	0.89917	1.0	D	0.87578	0.998	T	0.73190	-0.4061	10	0.87932	D	0	-25.8629	11.1525	0.48466	0.0:1.0:0.0:0.0	.	29	Q8WTQ4	CP078_HUMAN	Y	29	ENSP00000299191:S29Y	ENSP00000299191:S29Y	S	+	2	0	C16orf78	47965437	0.973000	0.33851	0.913000	0.36048	0.214000	0.24535	3.011000	0.49567	2.344000	0.79699	0.561000	0.74099	TCT		0.502	C16orf78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256846.1		NM_144602		63	55	1	0	3.94839e-29	0.01441	5.20512e-29	63	55		
MMP2	4313	broad.mit.edu	37	16	55523725	55523725	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr16:55523725G>A	ENST00000219070.4	+	7	1678	c.1169G>A	c.(1168-1170)tGc>tAc	p.C390Y	MMP2_ENST00000570308.1_Missense_Mutation_p.C314Y|MMP2_ENST00000437642.2_Missense_Mutation_p.C340Y|MMP2_ENST00000543485.1_Missense_Mutation_p.C314Y	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	390	Collagen-binding.|Fibronectin type-II 3. {ECO:0000255|PROSITE-ProRule:PRU00479}.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	TGGGGCTTCTGCCCTGACCAA	0.572																																						uc002ehz.3		NaN																	0				large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11						c.(1168-1170)TGC>TAC		matrix metalloproteinase 2 isoform a	Marimastat(DB00786)|Sulindac(DB00605)						78.0	63.0	68.0					16																	55523725		2198	4300	6498	SO:0001583	missense	4313				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:55523725G>A		CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"""matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"""	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.1169G>A	16.37:g.55523725G>A	ENSP00000219070:p.Cys390Tyr					MMP2_uc010vhd.1_Missense_Mutation_p.C314Y|MMP2_uc010ccc.2_Missense_Mutation_p.C340Y	p.C390Y	NM_004530	NP_004521	P08253	MMP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	7	1480	+		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)	390			Fibronectin type-II 3.|Collagen-binding.		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	ENST00000219070.4	37	c.1169G>A	CCDS10752.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614501	0.87359	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	D;D;D	0.92048	-2.96;-2.96;-2.96	5.05	5.05	0.67936	Peptidase M10, metallopeptidase (1);Fibronectin, type II, collagen-binding (4);Kringle-like fold (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97626	0.9222	H	0.96662	3.86	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98866	1.0764	10	0.72032	D	0.01	.	18.7816	0.91934	0.0:0.0:1.0:0.0	.	340;390	E9PE45;P08253	.;MMP2_HUMAN	Y	390;314;340	ENSP00000219070:C390Y;ENSP00000444143:C314Y;ENSP00000394237:C340Y	ENSP00000219070:C390Y	C	+	2	0	MMP2	54081226	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.785000	0.99042	2.504000	0.84457	0.655000	0.94253	TGC		0.572	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3				25	37	0	0	0	0.021523	0	25	37		
PRSS54	221191	broad.mit.edu	37	16	58314503	58314503	+	Silent	SNP	G	G	A	rs151211769	byFrequency	TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr16:58314503G>A	ENST00000219301.4	-	7	1207	c.813C>T	c.(811-813)gcC>gcT	p.A271A	CCDC113_ENST00000443128.2_3'UTR|PRSS54_ENST00000567164.1_Silent_p.A271A|PRSS54_ENST00000543437.1_Silent_p.A172A|CCDC113_ENST00000219299.4_3'UTR	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	271						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GGGGAGGGCCGGCCCTCTCAG	0.527													G|||	2	0.000399361	0.0	0.0	5008	,	,		18523	0.0		0.0	False		,,,				2504	0.002					uc002enf.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(811-813)GCC>GCT		plasma kallikrein-like protein 4 precursor		G	,,	1,4395	2.1+/-5.4	0,1,2197	62.0	64.0	64.0		813,,	-5.7	0.0	16	dbSNP_134	64	0,8600		0,0,4300	no	coding-synonymous,utr-3,utr-3	CCDC113,PRSS54	NM_001080492.1,NM_001142302.1,NM_014157.3	,,	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	,,	271/396,,	58314503	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	221191				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:58314503G>A	AK058068	CCDS32463.1	16q21	2010-05-07			ENSG00000103023	ENSG00000103023		"""Serine peptidases / Serine peptidases"""	26336	protein-coding gene	gene with protein product	"""cancer/testis antigen 67"""					17521433	Standard	NM_001080492		Approved	FLJ25339, KLKBL4, CT67	uc002enf.3	Q6PEW0		ENST00000219301.4:c.813C>T	16.37:g.58314503G>A						PRSS54_uc002eng.2_Silent_p.A271A|PRSS54_uc010vie.1_Silent_p.A172A|CCDC113_uc002ene.2_3'UTR|CCDC113_uc010vid.1_3'UTR	p.A271A	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN			7	1208	-			271					Q96LN9|Q9NT77	Silent	SNP	ENST00000219301.4	37	c.813C>T	CCDS32463.1																																																																																				0.527	PRSS54-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422556.1		NM_001080492		33	29	0	0	0	0.013726	0	33	29		
CDH5	1003	broad.mit.edu	37	16	66436895	66436895	+	Missense_Mutation	SNP	C	C	A	rs368057935		TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr16:66436895C>A	ENST00000341529.3	+	12	2326	c.2178C>A	c.(2176-2178)gaC>gaA	p.D726E	CDH5_ENST00000539168.1_Missense_Mutation_p.D165E	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	726					adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	CCCCCTACGACACGCTGCACA	0.667																																						uc002eom.3		NaN																	0				ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6						c.(2176-2178)GAC>GAA		cadherin 5, type 2 preproprotein							53.0	45.0	48.0					16																	66436895		2201	4300	6501	SO:0001583	missense	1003				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	g.chr16:66436895C>A	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.2178C>A	16.37:g.66436895C>A	ENSP00000344115:p.Asp726Glu						p.D726E	NM_001795	NP_001786	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	12	2334	+		Ovarian(137;0.0955)	726			Cytoplasmic (Potential).		Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	37	c.2178C>A	CCDS10804.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.928259	0.92389	.	.	ENSG00000179776	ENST00000341529;ENST00000379531;ENST00000539262;ENST00000539168	D;D	0.88431	-2.38;-2.38	5.46	3.48	0.39840	Cadherin, cytoplasmic domain (1);	.	.	.	.	D	0.95947	0.8680	H	0.96720	3.87	0.58432	D	0.999996	D	0.89917	1.0	D	0.85130	0.997	D	0.95663	0.8717	9	0.87932	D	0	.	11.3656	0.49671	0.0:0.8544:0.0:0.1456	.	726	P33151	CADH5_HUMAN	E	726;611;467;165	ENSP00000344115:D726E;ENSP00000461880:D165E	ENSP00000344115:D726E	D	+	3	2	CDH5	64994396	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.275000	0.51639	0.649000	0.30751	0.563000	0.77884	GAC		0.667	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1		NM_001795		23	23	1	0	3.5997e-14	0.014323	4.12775e-14	23	23		
SF3B3	23450	broad.mit.edu	37	16	70605036	70605036	+	Silent	SNP	G	G	T	rs564943111		TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr16:70605036G>T	ENST00000302516.5	+	25	3658	c.3447G>T	c.(3445-3447)cgG>cgT	p.R1149R		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	1149					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TGCACCTGCGGTCTGAACATC	0.498																																						uc002ezf.2		NaN																	0				ovary(1)	1						c.(3445-3447)CGG>CGT		splicing factor 3b, subunit 3							151.0	142.0	145.0					16																	70605036		2198	4300	6498	SO:0001819	synonymous_variant	23450				protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr16:70605036G>T	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.3447G>T	16.37:g.70605036G>T							p.R1149R	NM_012426	NP_036558	Q15393	SF3B3_HUMAN			25	3658	+		Ovarian(137;0.0694)	1149					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Silent	SNP	ENST00000302516.5	37	c.3447G>T	CCDS10894.1																																																																																				0.498	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1		NM_012426		109	113	1	0	8.74965e-44	0.01441	1.20199e-43	109	113		
MARVELD3	91862	broad.mit.edu	37	16	71668682	71668682	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr16:71668682G>T	ENST00000268485.3	+	3	1226	c.1182G>T	c.(1180-1182)aaG>aaT	p.K394N	MARVELD3_ENST00000565261.1_Intron|MARVELD3_ENST00000299952.4_Intron	NM_052858.4	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	394					cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|tight junction (GO:0005923)				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				TAAAAGAGAAGCCAGCAGAAA	0.493																																						uc002fat.2		NaN																	0				skin(1)	1						c.(1180-1182)AAG>AAT		MARVEL domain containing 3 isoform 2							53.0	57.0	56.0					16																	71668682		2198	4299	6497	SO:0001583	missense	91862					integral to membrane		g.chr16:71668682G>T	BC013376	CCDS10904.1, CCDS32478.1, CCDS59270.1	16q22.2	2008-02-05	2004-07-12	2004-07-14	ENSG00000140832	ENSG00000140832			30525	protein-coding gene	gene with protein product		614094	"""MARVEL (membrane-associating) domain containing 3"""	MRVLDC3			Standard	NM_001017967		Approved		uc002fat.4	Q96A59	OTTHUMG00000137591	ENST00000268485.3:c.1182G>T	16.37:g.71668682G>T	ENSP00000268485:p.Lys394Asn					MARVELD3_uc002fau.2_Intron|MARVELD3_uc010cge.2_Intron	p.K394N	NM_052858	NP_443090	Q96A59	MALD3_HUMAN			3	1245	+		Ovarian(137;0.125)	394			Cytoplasmic (Potential).		A8K820|H3BQM5|Q96MJ4	Missense_Mutation	SNP	ENST00000268485.3	37	c.1182G>T	CCDS10904.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.266209	0.59540	.	.	ENSG00000140832	ENST00000268485	T	0.52983	0.64	5.79	4.83	0.62350	.	.	.	.	.	T	0.39253	0.1071	L	0.51422	1.61	0.80722	D	1	B	0.32382	0.368	B	0.28553	0.091	T	0.33954	-0.9848	9	0.54805	T	0.06	.	8.813	0.34978	0.0739:0.0:0.775:0.1511	.	394	Q96A59	MALD3_HUMAN	N	394	ENSP00000268485:K394N	ENSP00000268485:K394N	K	+	3	2	MARVELD3	70226183	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	2.495000	0.45337	1.420000	0.47138	-0.181000	0.13052	AAG		0.493	MARVELD3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268991.2		NM_052858		37	43	1	0	1.07637e-12	0.021022	1.21173e-12	37	43		
CLEC18B	497190	broad.mit.edu	37	16	74452026	74452026	+	Silent	SNP	T	T	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr16:74452026T>A	ENST00000339953.5	-	3	508	c.387A>T	c.(385-387)gcA>gcT	p.A129A		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	129	SCP.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GCTGCCCCTCTGCAAACCACA	0.662																																						uc002fct.2		NaN																	0					0						c.(385-387)GCA>GCT		C-type lectin domain family 18, member B							73.0	76.0	75.0					16																	74452026		2036	4154	6190	SO:0001819	synonymous_variant	497190					extracellular region	sugar binding	g.chr16:74452026T>A	AY358373	CCDS32484.1	16q22.3	2010-04-27	2009-03-10	2009-03-10		ENSG00000140839		"""C-type lectin domain containing"""	33849	protein-coding gene	gene with protein product							Standard	NM_001011880		Approved		uc002fct.3	Q6UXF7		ENST00000339953.5:c.387A>T	16.37:g.74452026T>A						CLEC18B_uc002fcu.2_Silent_p.A129A|CLEC18B_uc010vmu.1_Intron|CLEC18B_uc010vmw.1_Silent_p.A129A	p.A129A	NM_001011880	NP_001011880	Q6UXF7	CL18B_HUMAN			3	587	-			129			SCP.		B4DF90	Silent	SNP	ENST00000339953.5	37	c.387A>T	CCDS32484.1																																																																																				0.662	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434697.1		NM_001011880		29	36	0	0	0	0.007291	0	29	36		
TP53	7157	broad.mit.edu	37	17	7578455	7578455	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr17:7578455C>G	ENST00000269305.4	-	5	664	c.475G>C	c.(475-477)Gcc>Ccc	p.A159P	TP53_ENST00000455263.2_Missense_Mutation_p.A159P|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.A159P|TP53_ENST00000445888.2_Missense_Mutation_p.A159P|TP53_ENST00000413465.2_Missense_Mutation_p.A159P|TP53_ENST00000359597.4_Missense_Mutation_p.A159P	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	159	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.A159P(19)|p.0?(8)|p.A159T(7)|p.R158fs(6)|p.R158fs*11(6)|p.A159fs*11(4)|p.A159S(4)|p.R65fs(2)|p.A27P(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.R26fs(2)|p.A66P(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.A159_Q167delAMAIYKQSQ(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)	ATGGCCATGGCGCGGACGCGG	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		85	Substitution - Missense(34)|Deletion - Frameshift(18)|Deletion - In frame(12)|Complex(10)|Whole gene deletion(8)|Complex - frameshift(2)|Insertion - In frame(1)	p.A159V(30)|p.A159P(13)|p.A159A(8)|p.A159T(7)|p.A159D(7)|p.0?(7)|p.A159fs*11(5)|p.A159S(4)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.R158fs*11(2)|p.A159fs*21(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.A159_Q167delAMAIYKQSQ(1)|p.V157fs*21(1)|p.R158fs*8(1)	lung(20)|central_nervous_system(18)|oesophagus(8)|liver(6)|stomach(5)|breast(5)|upper_aerodigestive_tract(4)|urinary_tract(4)|bone(4)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|ovary(2)|thyroid(1)|soft_tissue(1)|pancreas(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(475-477)GCC>CCC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							50.0	51.0	50.0					17																	7578455		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.chr17:7578455C>G	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.475G>C	17.37:g.7578455C>G	ENSP00000269305:p.Ala159Pro	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.A159P|TP53_uc002gih.2_Missense_Mutation_p.A159P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.A27P|TP53_uc010cng.1_Missense_Mutation_p.A27P|TP53_uc002gii.1_Missense_Mutation_p.A27P|TP53_uc010cnh.1_Missense_Mutation_p.A159P|TP53_uc010cni.1_Missense_Mutation_p.A159P|TP53_uc002gij.2_Missense_Mutation_p.A159P|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.A66P|TP53_uc002gio.2_Missense_Mutation_p.A27P|TP53_uc010vug.1_Missense_Mutation_p.A120P	p.A159P	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	669	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	159		A -> G (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> D (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> F (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.475G>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209010	0.58343	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	5.59	2.4	0.29515	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.053992	0.64402	D	0.000001	D	0.99816	0.9919	M	0.89840	3.065	0.51767	D	0.999938	D;D;D;D;D;D;D	0.89917	1.0;0.998;0.999;1.0;0.997;0.995;1.0	D;D;D;D;D;D;D	0.87578	0.997;0.986;0.995;0.997;0.996;0.987;0.998	D	0.98681	1.0692	10	0.87932	D	0	-9.0177	6.1221	0.20159	0.0:0.6615:0.1535:0.185	.	120;159;159;66;159;159;159	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	P	159;159;159;159;159;159;148;66;27;66;27;159	ENSP00000410739:A159P;ENSP00000352610:A159P;ENSP00000269305:A159P;ENSP00000398846:A159P;ENSP00000391127:A159P;ENSP00000391478:A159P;ENSP00000425104:A27P;ENSP00000423862:A66P;ENSP00000424104:A159P	ENSP00000269305:A159P	A	-	1	0	TP53	7519180	1.000000	0.71417	0.149000	0.22428	0.179000	0.23085	4.930000	0.63462	0.333000	0.23563	0.655000	0.94253	GCC		0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		52	9	0	0	0	0.01441	0	52	9		
MYH4	4622	broad.mit.edu	37	17	10353854	10353854	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr17:10353854G>C	ENST00000255381.2	-	30	4207	c.4097C>G	c.(4096-4098)tCc>tGc	p.S1366C	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1366					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GTTGGCCTTGGACATTCCCCT	0.602																																						uc002gmn.2		NaN																	0				ovary(10)|skin(2)|central_nervous_system(1)	13						c.(4096-4098)TCC>TGC		myosin, heavy polypeptide 4, skeletal muscle							176.0	149.0	158.0					17																	10353854		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10353854G>C		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.4097C>G	17.37:g.10353854G>C	ENSP00000255381:p.Ser1366Cys					uc002gml.1_Intron	p.S1366C	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			30	4208	-			1366			Potential.			Missense_Mutation	SNP	ENST00000255381.2	37	c.4097C>G	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.915780	0.92178	.	.	ENSG00000141048	ENST00000255381	T	0.80480	-1.38	5.67	5.67	0.87782	Myosin tail (1);	0.000000	0.37304	U	0.002154	D	0.93281	0.7859	H	0.95745	3.715	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.94440	0.7657	10	0.87932	D	0	.	20.1979	0.98245	0.0:0.0:1.0:0.0	.	1366	Q9Y623	MYH4_HUMAN	C	1366	ENSP00000255381:S1366C	ENSP00000255381:S1366C	S	-	2	0	MYH4	10294579	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.806000	0.99153	2.846000	0.97976	0.650000	0.86243	TCC		0.602	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1		NM_017533		102	9	0	0	0	0.01441	0	102	9		
SREBF1	6720	broad.mit.edu	37	17	17719174	17719174	+	Splice_Site	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr17:17719174C>G	ENST00000261646.5	-	12	2567	c.2383G>C	c.(2383-2385)Gtg>Ctg	p.V795L	MIR33B_ENST00000385104.1_RNA|SREBF1_ENST00000355815.4_Splice_Site_p.V825L|SREBF1_ENST00000338854.5_Splice_Site_p.V795L|SREBF1_ENST00000395757.1_Splice_Site_p.V541L	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	795					aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						AAGAGAGCACCTGGGTTCCCG	0.627																																						uc002gru.1		NaN																	0				skin(1)	1						c.(2383-2385)GTG>CTG		sterol regulatory element binding transcription							49.0	36.0	40.0					17																	17719174		2200	4298	6498	SO:0001630	splice_region_variant	6720				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding	g.chr17:17719174C>G	BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"""Basic helix-loop-helix proteins"""	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.2383+1G>C	17.37:g.17719174C>G						SREBF1_uc002grp.1_Missense_Mutation_p.V414L|SREBF1_uc002grq.1_Missense_Mutation_p.V314L|SREBF1_uc002grr.1_Missense_Mutation_p.V541L|SREBF1_uc002grs.1_Missense_Mutation_p.V771L|SREBF1_uc002grt.1_Missense_Mutation_p.V825L|MIR33B_hsa-mir-33b|MI0003646_5'Flank	p.V795L	NM_004176	NP_004167	P36956	SRBP1_HUMAN			12	2577	-			795			Cytoplasmic (Potential).		B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Missense_Mutation	SNP	ENST00000261646.5	37	c.2383G>C	CCDS11189.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.01|14.01	2.406417|2.406417	0.42715|0.42715	.|.	.|.	ENSG00000072310|ENSG00000072310	ENST00000395751|ENST00000338854;ENST00000355815;ENST00000261646;ENST00000395757;ENST00000395756;ENST00000418712;ENST00000423161;ENST00000447641	.|T;T;T;T	.|0.13538	.|2.58;2.58;2.58;2.58	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.40040|0.40040	0.1101|0.1101	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.999;1.0;0.996	.|D;D;D	.|0.71414	.|0.941;0.973;0.937	T|T	0.14227|0.14227	-1.0480|-1.0480	5|9	.|.	.|.	.|.	-17.3737|-17.3737	18.7259|18.7259	0.91713|0.91713	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|795;825;414	.|P36956;P36956-4;A8MTU8	.|SRBP1_HUMAN;.;.	T|L	802|795;825;795;541;414;632;721;120	.|ENSP00000345822:V795L;ENSP00000348069:V825L;ENSP00000261646:V795L;ENSP00000379106:V541L	.|.	S|V	-|-	2|1	0|0	SREBF1|SREBF1	17659899|17659899	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.351000|0.351000	0.29236|0.29236	7.559000|7.559000	0.82265|0.82265	2.599000|2.599000	0.87857|0.87857	0.561000|0.561000	0.74099|0.74099	AGT|GTG		0.627	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131771.1		NM_004176	Missense_Mutation	8	21	0	0	0	0.00308	0	8	21		
TOP3A	7156	broad.mit.edu	37	17	18181198	18181198	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr17:18181198C>A	ENST00000321105.5	-	18	2832	c.2618G>T	c.(2617-2619)tGc>tTc	p.C873F	TOP3A_ENST00000542570.1_Missense_Mutation_p.C778F|TOP3A_ENST00000540524.1_Missense_Mutation_p.C403F	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	873	2 X 27 AA approximate repeats.				DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GCCTGGTGGGCATCCCAGGGA	0.642																																						uc002gsx.1		NaN																	0				skin(3)	3						c.(2617-2619)TGC>TTC		topoisomerase (DNA) III alpha							42.0	46.0	45.0					17																	18181198		2203	4299	6502	SO:0001583	missense	7156				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	g.chr17:18181198C>A	U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 7"""	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.2618G>T	17.37:g.18181198C>A	ENSP00000321636:p.Cys873Phe					TOP3A_uc010cpz.1_Missense_Mutation_p.C325F|TOP3A_uc010vxr.1_Missense_Mutation_p.C403F|TOP3A_uc002gsw.1_Missense_Mutation_p.C325F|TOP3A_uc010vxs.1_Missense_Mutation_p.C771F	p.C873F	NM_004618	NP_004609	Q13472	TOP3A_HUMAN			18	2847	-			873			2 X 27 AA approximate repeats.		A8KA61|B4DK80|D3DXC7|Q13473	Missense_Mutation	SNP	ENST00000321105.5	37	c.2618G>T	CCDS11194.1	.	.	.	.	.	.	.	.	.	.	C	0.990	-0.694161	0.03303	.	.	ENSG00000177302	ENST00000321105;ENST00000540524;ENST00000542570	T;T;T	0.10960	3.18;2.82;3.18	5.11	-10.2	0.00374	.	2.337150	0.01088	N	0.005123	T	0.04137	0.0115	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.32929	-0.9888	10	0.52906	T	0.07	0.8728	1.9778	0.03419	0.178:0.181:0.1906:0.4505	.	778;873	B4DK80;Q13472	.;TOP3A_HUMAN	F	873;403;778	ENSP00000321636:C873F;ENSP00000446425:C403F;ENSP00000442336:C778F	ENSP00000321636:C873F	C	-	2	0	TOP3A	18121923	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	-2.390000	0.01057	-1.843000	0.01179	0.549000	0.68633	TGC		0.642	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2				57	55	1	0	2.14255e-21	0.01441	2.64836e-21	57	55		
RNF112	7732	broad.mit.edu	37	17	19319264	19319264	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr17:19319264C>T	ENST00000461366.1	+	14	1887	c.1672C>T	c.(1672-1674)Ctc>Ttc	p.L558F	CTB-187M2.2_ENST00000579897.1_RNA	NM_007148.4	NP_009079.2	Q9ULX5	RN112_HUMAN	ring finger protein 112	558						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						GGGGGCCGGGCTCATGGGCCT	0.692																																						uc010vyw.1		NaN																	0				ovary(2)	2						c.(1672-1674)CTC>TTC		ring finger protein 112							10.0	11.0	11.0					17																	19319264		1932	4110	6042	SO:0001583	missense	7732						GTP binding|GTPase activity|zinc ion binding	g.chr17:19319264C>T	AF054587	CCDS58529.1	17p11.2	2013-01-16	2008-06-13	2008-06-13	ENSG00000128482	ENSG00000128482		"""RING-type (C3HC4) zinc fingers"""	12968	protein-coding gene	gene with protein product		601237	"""zinc finger protein 179"""	ZNF179		8660987, 9806830	Standard	NM_007148		Approved	BFP	uc010vyw.2	Q9ULX5	OTTHUMG00000059601	ENST00000461366.1:c.1672C>T	17.37:g.19319264C>T	ENSP00000454919:p.Leu558Phe					RNF112_uc010vyv.1_Missense_Mutation_p.L559F	p.L558F	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN			14	1871	+			558					O60633|Q7Z5V9	Missense_Mutation	SNP	ENST00000461366.1	37	c.1672C>T	CCDS58529.1																																																																																				0.692	RNF112-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132549.4		NM_007148		8	11	0	0	0	0.00308	0	8	11		
RDM1	201299	broad.mit.edu	37	17	34251642	34251642	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr17:34251642G>A	ENST00000293273.6	-	4	579	c.534C>T	c.(532-534)ggC>ggT	p.G178G	RDM1_ENST00000394527.1_Intron|RDM1_ENST00000431884.2_Silent_p.G178G|RDM1_ENST00000430160.2_Silent_p.G155G|RDM1_ENST00000394529.3_Silent_p.G155G|RDM1_ENST00000419453.2_Silent_p.G155G|RDM1_ENST00000425909.3_Intron|RDM1_ENST00000591402.1_Intron|RDM1_ENST00000394528.3_Silent_p.G178G	NM_145654.3	NP_663629.1	Q8NG50	RDM1_HUMAN	RAD52 motif containing 1	178					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)	9		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CCTCCACCAAGCCAATGCCAG	0.483								Other identified genes with known or suspected DNA repair function																														uc002hkh.2		NaN																	0				ovary(1)	1						c.(532-534)GGC>GGT	Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function	RAD52 motif 1 isoform 1							152.0	149.0	150.0					17																	34251642		2203	4300	6503	SO:0001819	synonymous_variant	201299				DNA recombination|DNA repair	Cajal body|cytoplasm|nucleolus|PML body	DNA binding|nucleotide binding|RNA binding	g.chr17:34251642G>A	AB080728	CCDS11301.1, CCDS42299.1, CCDS54111.1, CCDS54108.1, CCDS54109.1, CCDS54110.1, CCDS59280.1, CCDS59281.1	17q11.2	2014-04-10	2014-04-10	2005-10-20	ENSG00000187456	ENSG00000278023		"""RNA binding motif (RRM) containing"""	19950	protein-coding gene	gene with protein product		612896	"""RAD52 homolog B (S. cerevisiae)"", ""RAD52 motif 1"""	RAD52B		15611051	Standard	NM_001163120		Approved	MGC33977	uc002hkh.3	Q8NG50	OTTHUMG00000188399	ENST00000293273.6:c.534C>T	17.37:g.34251642G>A						RDM1_uc010cty.2_Intron|RDM1_uc010ctz.2_Intron|RDM1_uc010cua.2_Silent_p.G155G|RDM1_uc002hkg.3_Silent_p.G155G|RDM1_uc010cub.2_Intron|RDM1_uc010cud.2_Silent_p.G178G|RDM1_uc010cuf.2_Intron|RDM1_uc010cue.2_Intron|RDM1_uc010cug.2_Intron|RDM1_uc010cuc.2_Intron|RDM1_uc010wco.1_Intron|RDM1_uc010wcp.1_Silent_p.G155G|RDM1_uc002hki.2_Silent_p.G178G	p.G178G	NM_145654	NP_663629	Q8NG50	RDM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	4	583	-		Ovarian(249;0.17)	178					A0JP55|A8MV46|A8MY68|A8MZ92|A8RCS5|A8RCT0|A8RCT5|A8RCT8|A8RCU3|A8RCU8|A8RCW0|A8RCW5	Silent	SNP	ENST00000293273.6	37	c.534C>T	CCDS11301.1																																																																																				0.483	RDM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256588.2		NM_145654		113	10	0	0	0	0.01441	0	113	10		
HSD17B1	3292	broad.mit.edu	37	17	40704977	40704977	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr17:40704977C>G	ENST00000585807.1	+	1	3746	c.26C>G	c.(25-27)aCc>aGc	p.T9S	HSD17B1_ENST00000225929.5_Missense_Mutation_p.T9S|RP11-400F19.6_ENST00000590513.1_RNA|RP11-400F19.8_ENST00000585572.1_RNA	NM_000413.2	NP_000404.2	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1	9					bone development (GO:0060348)|cellular response to metal ion (GO:0071248)|estrogen biosynthetic process (GO:0006703)|estrogen metabolic process (GO:0008210)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|estradiol 17-beta-dehydrogenase activity (GO:0004303)			NS(1)|endometrium(1)|kidney(1)|lung(2)	5		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Equilin(DB02187)	GTGCTCATCACCGGCTGTTCC	0.647																																						uc002hzw.2		NaN																	0					0						c.(25-27)ACC>AGC		hydroxysteroid (17-beta) dehydrogenase 1	NADH(DB00157)						51.0	48.0	49.0					17																	40704977		2203	4300	6503	SO:0001583	missense	3292				estrogen biosynthetic process	cytosol	binding|estradiol 17-beta-dehydrogenase activity	g.chr17:40704977C>G		CCDS11428.1	17q11-q21	2011-09-14					1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5210	protein-coding gene	gene with protein product	"""Estradiol 17-beta-dehydrogenase-1"", ""short chain dehydrogenase/reductase family 28CE, member 1"""	109684		EDHB17, EDH17B2		2330005, 19027726	Standard	NM_000413		Approved	HSD17, MGC138140, SDR28C1	uc002hzw.3	P14061		ENST00000585807.1:c.26C>G	17.37:g.40704977C>G	ENSP00000466799:p.Thr9Ser					HSD17B1_uc002hzx.2_Missense_Mutation_p.T9S|HSD17B1_uc010wgm.1_RNA|uc002hzy.2_Missense_Mutation_p.V202L|HSD17B1_uc010cyi.2_Missense_Mutation_p.T9S	p.T9S	NM_000413	NP_000404	P14061	DHB1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.129)	1	994	+		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)	9					B3KXS1|Q2M2L8	Missense_Mutation	SNP	ENST00000585807.1	37	c.26C>G	CCDS11428.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.473390	0.63737	.	.	ENSG00000108786	ENST00000225929;ENST00000225928	D	0.97710	-4.5	4.15	4.15	0.48705	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.98432	0.9478	M	0.81942	2.565	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;0.99	D;D;D	0.87578	0.997;0.998;0.983	D	0.98325	1.0530	10	0.44086	T	0.13	.	13.3376	0.60526	0.0:1.0:0.0:0.0	.	9;9;9	B3RFR9;B4DTD0;P14061	.;.;DHB1_HUMAN	S	9	ENSP00000225929:T9S	ENSP00000225928:T9S	T	+	2	0	HSD17B1	37958503	0.998000	0.40836	0.989000	0.46669	0.570000	0.35934	4.241000	0.58707	2.164000	0.68074	0.586000	0.80456	ACC		0.647	HSD17B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450392.1		NM_000413		55	4	0	0	0	0.01441	0	55	4		
ACBD4	79777	broad.mit.edu	37	17	43220992	43220992	+	IGR	SNP	G	G	A	rs199635439	byFrequency	TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr17:43220992G>A	ENST00000376955.4	+	0	1453				ACBD4_ENST00000398322.3_3'UTR|ACBD4_ENST00000591859.1_Missense_Mutation_p.S337N|ACBD4_ENST00000321854.8_3'UTR|ACBD4_ENST00000431281.1_Missense_Mutation_p.S337N|ACBD4_ENST00000592162.1_3'UTR|ACBD4_ENST00000586346.1_Missense_Mutation_p.S337N	NM_001135707.1	NP_001129179.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4								fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			kidney(1)|lung(3)|ovary(1)	5						TGTGCCCTGAGCCTTCCTAGG	0.542													G|||	3	0.000599042	0.0023	0.0	5008	,	,		17546	0.0		0.0	False		,,,				2504	0.0					uc010wjj.1		NaN																	0				ovary(1)|kidney(1)	2						c.(1009-1011)AGC>AAC		acyl-Coenzyme A binding domain containing 4		G	ASN/SER,,ASN/SER,	2,1382		0,2,690	42.0	38.0	39.0		1010,,1010,	1.8	0.2	17		39	0,3182		0,0,1591	no	missense,utr-3,missense,utr-3	ACBD4	NM_001135704.1,NM_001135705.1,NM_001135706.1,NM_024722.2	46,,46,	0,2,2281	AA,AG,GG		0.0,0.1445,0.0438	,,,	337/342,,337/342,	43220992	2,4564	692	1591	2283	SO:0001628	intergenic_variant	79777						fatty-acyl-CoA binding	g.chr17:43220992G>A	BC029164	CCDS42348.1, CCDS45710.1, CCDS45711.1	17q21.31	2012-10-02	2010-04-30		ENSG00000181513	ENSG00000181513			23337	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 4"""				Standard	NM_001135704		Approved	FLJ13322	uc002iie.3	Q8NC06	OTTHUMG00000180111		17.37:g.43220992G>A						ACBD4_uc002iie.2_Missense_Mutation_p.S337N|ACBD4_uc002iif.2_3'UTR|ACBD4_uc002iic.2_3'UTR|ACBD4_uc010dae.2_Missense_Mutation_p.S259N	p.S337N	NM_001135704	NP_001129176	Q8NC06	ACBD4_HUMAN			12	1479	+			Error:Variant_position_missing_in_Q8NC06_after_alignment					D3DX64|Q8IUT1|Q9H8Q4	Missense_Mutation	SNP	ENST00000376955.4	37	c.1010G>A	CCDS45711.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	14.95	2.689678	0.48097	0.001445	0.0	ENSG00000181513	ENST00000431281;ENST00000321854	T	0.17854	2.25	3.83	1.78	0.24846	.	4.946150	0.00357	N	0.000034	T	0.10723	0.0262	N	0.08118	0	0.09310	N	1	B	0.27229	0.172	B	0.26517	0.07	T	0.26608	-1.0098	10	0.87932	D	0	.	5.3228	0.15891	0.117:0.2347:0.6483:0.0	.	337	Q8NC06-3	.	N	337	ENSP00000405969:S337N	ENSP00000314440:S337N	S	+	2	0	ACBD4	40576775	0.284000	0.24287	0.171000	0.22900	0.065000	0.16274	2.855000	0.48333	0.554000	0.29061	0.491000	0.48974	AGC		0.542	ACBD4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000449816.1		NM_024722		66	0	0	0	0	0.01441	0	66	0		
CBX1	10951	broad.mit.edu	37	17	46152410	46152410	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr17:46152410C>G	ENST00000393408.3	-	4	851	c.371G>C	c.(370-372)gGa>gCa	p.G124A	CBX1_ENST00000495350.1_Missense_Mutation_p.G124A|CBX1_ENST00000225603.4_Missense_Mutation_p.G124A	NM_006807.4	NP_006798.1	P83916	CBX1_HUMAN	chromobox homolog 1	124	Chromo 2; shadow subtype. {ECO:0000255|PROSITE-ProRule:PRU00053}.				negative regulation of transcription, DNA-templated (GO:0045892)	chromatin (GO:0000785)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|pericentric heterochromatin (GO:0005721)|spindle (GO:0005819)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone methyltransferase binding (GO:1990226)			breast(1)|central_nervous_system(1)|kidney(1)|prostate(1)	4						GTCTGTAGCTCCAATAATCCG	0.453																																					NSCLC(136;694 2497 38792 39034)	uc002ind.3		NaN																	0					0						c.(370-372)GGA>GCA		heterochromatin protein 1-beta							124.0	127.0	126.0					17																	46152410		2203	4300	6503	SO:0001583	missense	10951					nuclear heterochromatin|nucleoplasm|spindle	chromatin binding|enzyme binding	g.chr17:46152410C>G	U35451	CCDS11525.1	17q21.32	2010-07-06	2010-06-24		ENSG00000108468	ENSG00000108468			1551	protein-coding gene	gene with protein product	"""HP1 beta homolog (Drosophila )"""	604511	"""chromobox homolog 1 (Drosophila HP1 beta)"""			9169582	Standard	NM_001127228		Approved	HP1Hs-beta, M31, MOD1, CBX, HP1-BETA	uc002ind.4	P83916	OTTHUMG00000150417	ENST00000393408.3:c.371G>C	17.37:g.46152410C>G	ENSP00000377060:p.Gly124Ala					CBX1_uc002ine.3_Missense_Mutation_p.G124A	p.G124A	NM_006807	NP_006798	P83916	CBX1_HUMAN			4	852	-			124			Chromo 2; shadow subtype.		P23197	Missense_Mutation	SNP	ENST00000393408.3	37	c.371G>C	CCDS11525.1	.	.	.	.	.	.	.	.	.	.	C	35	5.468651	0.96274	.	.	ENSG00000108468	ENST00000225603;ENST00000393408;ENST00000402583	.	.	.	5.69	5.69	0.88448	Chromo shadow (1);Chromo domain-like (1);Chromo domain/shadow (2);Chromo shadow, subgroup (1);	0.000000	0.85682	U	0.000000	T	0.76535	0.4001	M	0.91140	3.18	0.80722	D	1	B	0.32862	0.387	B	0.34180	0.177	T	0.78971	-0.1993	9	0.56958	D	0.05	-15.4093	18.9494	0.92636	0.0:1.0:0.0:0.0	.	124	P83916	CBX1_HUMAN	A	124;124;128	.	ENSP00000225603:G124A	G	-	2	0	CBX1	43507409	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.663000	0.83820	2.847000	0.97988	0.655000	0.94253	GGA		0.453	CBX1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318016.1		NM_006807		87	87	0	0	0	0.01441	0	87	87		
SAMD14	201191	broad.mit.edu	37	17	48195665	48195665	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr17:48195665C>T	ENST00000330175.4	-	3	387	c.70G>A	c.(70-72)Gcc>Acc	p.A24T	SAMD14_ENST00000503131.1_Missense_Mutation_p.A24T|SAMD14_ENST00000503734.1_5'UTR	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	24										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						TCCAGTCTGGCCGTCTCTGGC	0.662																																						uc002iqg.2		NaN																	0					0						c.(70-72)GCC>ACC		sterile alpha motif domain containing 14							34.0	36.0	35.0					17																	48195665		2203	4300	6503	SO:0001583	missense	201191							g.chr17:48195665C>T		CCDS11560.1, CCDS58562.1	17q21.33	2013-01-10				ENSG00000167100		"""Sterile alpha motif (SAM) domain containing"""	27312	protein-coding gene	gene with protein product						8619474	Standard	NM_174920		Approved	FLJ36890	uc002iqg.4	Q8IZD0		ENST00000330175.4:c.70G>A	17.37:g.48195665C>T	ENSP00000329144:p.Ala24Thr					SAMD14_uc002iqd.2_5'Flank|SAMD14_uc002iqe.2_5'UTR|SAMD14_uc002iqf.2_Missense_Mutation_p.A24T	p.A24T	NM_174920	NP_777580	Q8IZD0	SAM14_HUMAN			3	369	-			24					A5D8V1|Q8N2X0	Missense_Mutation	SNP	ENST00000330175.4	37	c.70G>A	CCDS58562.1	.	.	.	.	.	.	.	.	.	.	C	15.21	2.765411	0.49574	.	.	ENSG00000167100	ENST00000330175;ENST00000285206;ENST00000503131	.	.	.	5.4	4.42	0.53409	.	0.460714	0.18060	N	0.152962	T	0.29321	0.0730	L	0.40543	1.245	0.22050	N	0.999398	B;B	0.30482	0.281;0.003	B;B	0.17433	0.018;0.004	T	0.17319	-1.0373	9	0.42905	T	0.14	-8.0174	7.0883	0.25270	0.0:0.731:0.1743:0.0947	.	24;24	Q8IZD0;Q8IZD0-2	SAM14_HUMAN;.	T	24;36;24	.	ENSP00000285206:A36T	A	-	1	0	SAMD14	45550664	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.064000	0.49986	1.250000	0.43966	0.557000	0.71058	GCC		0.662	SAMD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366661.1		NM_174920		95	83	0	0	0	0.01441	0	95	83		
COL1A1	1277	broad.mit.edu	37	17	48269225	48269225	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr17:48269225T>C	ENST00000225964.5	-	31	2169	c.2051A>G	c.(2050-2052)gAg>gGg	p.E684G		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	684	Triple-helical region.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	CACACCACGCTCGCCAGGGAA	0.642			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																															uc002iqm.2		NaN		Dom	yes		17	17q21.31-q22	1277	T	"""collagen, type I, alpha 1"""	yes	Osteogenesis imperfecta	M	PDGFB|USP6		dermatofibrosarcoma protuberans|aneurysmal bone cyst 	COL1A1/PDGFB(372)	0				soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382						c.(2050-2052)GAG>GGG		alpha 1 type I collagen preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						51.0	50.0	50.0					17																	48269225		2202	4299	6501	SO:0001583	missense	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48269225T>C	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.2051A>G	17.37:g.48269225T>C	ENSP00000225964:p.Glu684Gly						p.E684G	NM_000088	NP_000079	P02452	CO1A1_HUMAN			31	2177	-			684			Triple-helical region.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP	ENST00000225964.5	37	c.2051A>G	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.857064	0.91433	.	.	ENSG00000108821	ENST00000225964	D	0.94184	-3.37	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.96608	0.8893	M	0.83312	2.635	0.80722	D	1	D	0.71674	0.998	D	0.77004	0.989	D	0.97208	0.9869	10	0.87932	D	0	.	14.247	0.65995	0.0:0.0:0.0:1.0	.	684	P02452	CO1A1_HUMAN	G	684	ENSP00000225964:E684G	ENSP00000225964:E684G	E	-	2	0	COL1A1	45624224	1.000000	0.71417	0.958000	0.39756	0.780000	0.44128	5.021000	0.64072	2.007000	0.58848	0.460000	0.39030	GAG		0.642	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2				19	23	0	0	0	0.012319	0	19	23		
OR4D1	26689	broad.mit.edu	37	17	56232574	56232574	+	Silent	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr17:56232574C>G	ENST00000268912.5	+	1	81	c.60C>G	c.(58-60)acC>acG	p.T20T		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	20					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						TTTCACAGACCCAAGAGCTCC	0.453																																						uc010wno.1		NaN																	0				ovary(1)	1						c.(58-60)ACC>ACG		olfactory receptor, family 4, subfamily D,							126.0	125.0	125.0					17																	56232574		1942	4153	6095	SO:0001819	synonymous_variant	26689				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:56232574C>G	X89670	CCDS42365.1	17q22	2012-08-09			ENSG00000141194	ENSG00000141194		"""GPCR / Class A : Olfactory receptors"""	8293	protein-coding gene	gene with protein product				OR4D3		9119360	Standard	NM_012374		Approved	TPCR16	uc010wno.2	Q15615		ENST00000268912.5:c.60C>G	17.37:g.56232574C>G						MSX2P1_uc002ivn.2_5'Flank	p.T20T	NM_012374	NP_036506	Q15615	OR4D1_HUMAN			1	60	+			20			Extracellular (Potential).		B2RN14|Q8NGB1|Q96R76	Silent	SNP	ENST00000268912.5	37	c.60C>G	CCDS42365.1																																																																																				0.453	OR4D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443364.1				113	97	0	0	0	0.01441	0	113	97		
TANC2	26115	broad.mit.edu	37	17	61278265	61278265	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr17:61278265G>A	ENST00000424789.2	+	5	498	c.494G>A	c.(493-495)gGg>gAg	p.G165E	AC037445.1_ENST00000581421.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.G165E	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	165					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TGCAGCTATGGGGCTGTTACT	0.468																																						uc002jal.3		NaN																	0				ovary(2)	2						c.(493-495)GGG>GAG		tetratricopeptide repeat, ankyrin repeat and							123.0	118.0	120.0					17																	61278265		1949	4144	6093	SO:0001583	missense	26115						binding	g.chr17:61278265G>A	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.494G>A	17.37:g.61278265G>A	ENSP00000387593:p.Gly165Glu					TANC2_uc010wpe.1_Missense_Mutation_p.G75E	p.G165E	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN			5	517	+			165					Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	ENST00000424789.2	37	c.494G>A	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.970506	0.74246	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.72725	-0.68;-0.68	5.76	5.76	0.90799	.	.	.	.	.	T	0.55768	0.1941	L	0.28115	0.83	0.80722	D	1	B;B	0.33103	0.335;0.397	B;B	0.30943	0.122;0.057	T	0.55805	-0.8083	9	0.05959	T	0.93	.	18.1463	0.89656	0.0:0.0:1.0:0.0	.	165;165	Q9HCD6-2;Q9HCD6	.;TANC2_HUMAN	E	165	ENSP00000374171:G165E;ENSP00000387593:G165E	ENSP00000374171:G165E	G	+	2	0	TANC2	58631997	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.110000	0.94302	2.721000	0.93114	0.591000	0.81541	GGG		0.468	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1				127	78	0	0	0	0.01441	0	127	78		
RGS9	8787	broad.mit.edu	37	17	63221386	63221386	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr17:63221386G>A	ENST00000262406.9	+	18	1741	c.1674G>A	c.(1672-1674)gaG>gaA	p.E558E	RGS9_ENST00000449996.3_Silent_p.E555E|RGS9_ENST00000443584.3_Silent_p.E555E	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	558					dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						AGAGCAGCGAGGCCTCCCTCG	0.672																																						uc002jfe.2		NaN																	0				ovary(2)|skin(2)	4						c.(1672-1674)GAG>GAA		regulator of G-protein signaling 9 isoform 1							70.0	76.0	74.0					17																	63221386		1952	4144	6096	SO:0001819	synonymous_variant	8787				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr17:63221386G>A	AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"""Regulators of G-protein signaling"""	10004	protein-coding gene	gene with protein product	"""regulator of G protein signalling 9"", ""regulator of G protein signalling 9L"", ""regulator of G-protein signaling 9L"""	604067	"""regulator of G-protein signalling 9"""			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.1674G>A	17.37:g.63221386G>A						RGS9_uc010dem.2_Silent_p.E555E|RGS9_uc002jfd.2_Silent_p.E555E|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Silent_p.E329E	p.E558E	NM_003835	NP_003826	O75916	RGS9_HUMAN			18	1784	+			558					A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Silent	SNP	ENST00000262406.9	37	c.1674G>A	CCDS42373.1																																																																																				0.672	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1		NM_003835		104	165	0	0	0	0.01441	0	104	165		
SDK2	54549	broad.mit.edu	37	17	71426748	71426748	+	Silent	SNP	C	C	T	rs192403239		TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr17:71426748C>T	ENST00000392650.3	-	12	1485	c.1485G>A	c.(1483-1485)cgG>cgA	p.R495R	SDK2_ENST00000388726.3_Silent_p.R495R	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	495					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TGATGCGGGTCCGAGCTGAAA	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		16723	0.001		0.0	False		,,,				2504	0.0					uc010dfm.2		NaN																	0				ovary(2)	2						c.(1483-1485)CGG>CGA		sidekick 2							38.0	34.0	36.0					17																	71426748		2203	4300	6503	SO:0001819	synonymous_variant	54549				cell adhesion	integral to membrane		g.chr17:71426748C>T	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.1485G>A	17.37:g.71426748C>T						SDK2_uc010dfn.2_Silent_p.R174R	p.R495R	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN			12	1485	-			495			Extracellular (Potential).		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Silent	SNP	ENST00000392650.3	37	c.1485G>A	CCDS45769.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	9.621	1.133796	0.21123	.	.	ENSG00000069188	ENST00000416616	.	.	.	4.49	3.44	0.39384	.	.	.	.	.	T	0.57417	0.2052	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54111	-0.8342	4	.	.	.	.	8.506	0.33188	0.0:0.7572:0.1554:0.0874	.	.	.	.	N	400	.	.	D	-	1	0	SDK2	68938343	0.997000	0.39634	1.000000	0.80357	0.826000	0.46750	0.375000	0.20518	2.207000	0.71202	0.563000	0.77884	GAC		0.587	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2		NM_019064		3	21	0	0	0	0.004672	0	3	21		
NAT9	26151	broad.mit.edu	37	17	72769175	72769175	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr17:72769175C>A	ENST00000357814.3	-	4	267	c.194G>T	c.(193-195)tGt>tTt	p.C65F	NAT9_ENST00000580301.1_Missense_Mutation_p.C64F|NAT9_ENST00000583757.1_Missense_Mutation_p.C64F|NAT9_ENST00000581136.1_Missense_Mutation_p.C65F|NAT9_ENST00000583476.1_Missense_Mutation_p.C65F|NAT9_ENST00000582870.1_Missense_Mutation_p.C69F|NAT9_ENST00000582524.1_Missense_Mutation_p.C65F|NAT9_ENST00000580632.1_Missense_Mutation_p.C64F|NAT9_ENST00000580216.1_5'UTR|NAT9_ENST00000578822.1_Missense_Mutation_p.C70F	NM_015654.3	NP_056469.2	Q9BTE0	NAT9_HUMAN	N-acetyltransferase 9 (GCN5-related, putative)	65	N-acetyltransferase.					protein complex (GO:0043234)	N-acetyltransferase activity (GO:0008080)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)	8						AATGAAGGTACACTCTGAGGA	0.567																																						uc002jlq.2		NaN																	0					0						c.(193-195)TGT>TTT		N-acetyltransferase 9							57.0	47.0	50.0					17																	72769175		2203	4300	6503	SO:0001583	missense	26151					protein complex	N-acetyltransferase activity	g.chr17:72769175C>A	AK123115	CCDS11706.1	17q25.2	2011-11-25	2008-09-24		ENSG00000109065	ENSG00000109065			23133	protein-coding gene	gene with protein product			"""N-acetyltransferase 9"""			14608357	Standard	NM_015654		Approved	DKFZP564C103	uc002jlq.3	Q9BTE0		ENST00000357814.3:c.194G>T	17.37:g.72769175C>A	ENSP00000350467:p.Cys65Phe					NAT9_uc002jlr.2_Missense_Mutation_p.C64F	p.C65F	NM_015654	NP_056469	Q9BTE0	NAT9_HUMAN			4	268	-			65			N-acetyltransferase.		B2R7F0|Q9BTD0|Q9Y3T3	Missense_Mutation	SNP	ENST00000357814.3	37	c.194G>T	CCDS11706.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.579155	0.46006	.	.	ENSG00000109065	ENST00000357814	T	0.39406	1.08	5.41	5.41	0.78517	Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.66376	0.2783	M	0.83312	2.635	0.80722	D	1	P;D	0.89917	0.916;1.0	P;D	0.97110	0.697;1.0	T	0.62383	-0.6866	10	0.12103	T	0.63	-12.5044	19.1608	0.93531	0.0:1.0:0.0:0.0	.	64;65	Q9BTE0-2;Q9BTE0	.;NAT9_HUMAN	F	65	ENSP00000350467:C65F	ENSP00000350467:C65F	C	-	2	0	NAT9	70280770	1.000000	0.71417	0.997000	0.53966	0.882000	0.50991	7.744000	0.85034	2.689000	0.91719	0.655000	0.94253	TGT		0.567	NAT9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000443700.1		NM_015654		29	15	1	0	1.99505e-19	0.012213	2.41232e-19	29	15		
FBF1	85302	broad.mit.edu	37	17	73914079	73914079	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr17:73914079C>A	ENST00000586717.1	-	21	2550	c.2277G>T	c.(2275-2277)gaG>gaT	p.E759D	FBF1_ENST00000389570.4_Missense_Mutation_p.E759D|FBF1_ENST00000319129.5_Missense_Mutation_p.E758D			Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	759					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						GGTGCGAGGCCTCCACGCGGG	0.657																																						uc002jqc.2		NaN																	0					0						c.(2272-2274)GAG>GAT		Fas (TNFRSF6) binding factor 1							40.0	47.0	45.0					17																	73914079		2067	4195	6262	SO:0001583	missense	85302							g.chr17:73914079C>A	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.2277G>T	17.37:g.73914079C>A	ENSP00000465132:p.Glu759Asp					FBF1_uc002jqa.1_RNA|FBF1_uc010wsp.1_Missense_Mutation_p.E749D|FBF1_uc002jqd.1_Missense_Mutation_p.E759D|FBF1_uc002jqb.2_RNA|FBF1_uc010dgr.1_Missense_Mutation_p.E69D	p.E758D	NM_001080542	NP_001074011	Q8TES7	FBF1_HUMAN			21	2548	-			758					B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000586717.1	37	c.2274G>T		.	.	.	.	.	.	.	.	.	.	C	22.8	4.339733	0.81911	.	.	ENSG00000188878	ENST00000337792;ENST00000389570;ENST00000319129;ENST00000427433	T;T	0.23754	1.89;1.89	5.19	2.99	0.34606	.	.	.	.	.	T	0.46367	0.1389	M	0.72894	2.215	0.36193	D	0.850232	D;D;D	0.76494	0.999;0.989;0.986	D;P;P	0.78314	0.991;0.831;0.721	T	0.56637	-0.7946	9	0.54805	T	0.06	-27.6683	10.4924	0.44758	0.0:0.7821:0.0:0.2179	.	773;759;758	Q8TES7-6;Q8TES7;A6NLR5	.;FBF1_HUMAN;.	D	759;759;758;772	ENSP00000374221:E759D;ENSP00000324292:E758D	ENSP00000324292:E758D	E	-	3	2	FBF1	71425674	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.232000	0.32636	1.183000	0.42943	0.563000	0.77884	GAG		0.657	FBF1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000448945.2		NM_001080542		24	43	1	0	1.42536e-11	0.004656	1.5885e-11	24	43		
ENTHD2	146705	broad.mit.edu	37	17	79207838	79207838	+	Silent	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr17:79207838C>G	ENST00000300714.3	-	5	375	c.318G>C	c.(316-318)ggG>ggC	p.G106G	AC027601.1_ENST00000575922.1_RNA|AC027601.1_ENST00000569559.1_RNA|ENTHD2_ENST00000374769.2_5'UTR	NM_144679.2	NP_653280.1	Q96N21	AP4AT_HUMAN	ENTH domain containing 2	106	ENTH.					cytoplasmic vesicle (GO:0031410)											GATCTGGGGGCCCTGCAAAAG	0.677																																						uc002jzu.1		NaN																	0					0						c.(316-318)GGG>GGC		hypothetical protein LOC146705							22.0	24.0	23.0					17																	79207838		2202	4300	6502	SO:0001819	synonymous_variant	146705					integral to membrane		g.chr17:79207838C>G	AK056090	CCDS11779.1	17q25.3	2012-07-18	2012-07-18	2012-07-18	ENSG00000167302	ENSG00000167302			26458	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 56"""	C17orf56			Standard	NM_144679		Approved	FLJ31528	uc002jzu.2	Q96N21	OTTHUMG00000177866	ENST00000300714.3:c.318G>C	17.37:g.79207838C>G						C17orf56_uc002jzr.1_5'Flank|C17orf56_uc002jzs.1_5'UTR|C17orf56_uc002jzt.1_5'UTR|C17orf56_uc002jzv.1_5'UTR	p.G106G	NM_144679	NP_653280	Q96N21	CQ056_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		5	340	-	all_neural(118;0.0804)|Melanoma(429;0.242)		106					Q6ZQU0|Q6ZSQ9	Silent	SNP	ENST00000300714.3	37	c.318G>C	CCDS11779.1																																																																																				0.677	ENTHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439315.1		NM_144679		32	29	0	0	0	0.00623	0	32	29		
P4HB	5034	broad.mit.edu	37	17	79801895	79801895	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr17:79801895T>C	ENST00000331483.4	-	11	1742	c.1520A>G	c.(1519-1521)gAa>gGa	p.E507G	RP11-498C9.2_ENST00000576784.1_RNA|P4HB_ENST00000472244.1_5'Flank|P4HB_ENST00000439918.2_Missense_Mutation_p.E463G|P4HB_ENST00000576390.1_Intron	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	507					cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|protein folding (GO:0006457)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|procollagen-proline 4-dioxygenase complex (GO:0016222)	poly(A) RNA binding (GO:0044822)|procollagen-proline 4-dioxygenase activity (GO:0004656)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			GTATTACAGTTCATCTTTCAC	0.612																																					Colon(49;444 983 1296 7887 42561)	uc002kbn.1		NaN																	0					0						c.(1519-1521)GAA>GGA		prolyl 4-hydroxylase, beta subunit precursor							202.0	192.0	196.0					17																	79801895		2203	4300	6503	SO:0001583	missense	5034				cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr17:79801895T>C	J02783	CCDS11787.1	17q25	2011-10-19	2008-12-09		ENSG00000185624	ENSG00000185624	1.14.11.2, 5.3.4.1	"""Protein disulfide isomerases"""	8548	protein-coding gene	gene with protein product	"""protein disulfide isomerase-associated 1"", ""protein disulfide isomerase family A, member 1"", ""collagen prolyl 4-hydroxylase beta"""	176790	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase; thyroid hormone binding protein p55)"", ""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase-associated 1)"", ""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide"""	PO4DB, ERBA2L		8111381	Standard	NM_000918		Approved	PDIA1, PROHB, DSI, GIT, PDI, PO4HB, P4Hbeta	uc002kbn.1	P07237	OTTHUMG00000150269	ENST00000331483.4:c.1520A>G	17.37:g.79801895T>C	ENSP00000327801:p.Glu507Gly					P4HB_uc002kbl.1_Missense_Mutation_p.E184G|P4HB_uc002kbm.1_Missense_Mutation_p.E184G	p.E507G	NM_000918	NP_000909	P07237	PDIA1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)		11	1717	-	all_neural(118;0.0878)|Ovarian(332;0.12)		507			Prevents secretion from ER.		B2RDQ2|P30037|P32079|Q15205|Q6LDE5	Missense_Mutation	SNP	ENST00000331483.4	37	c.1520A>G	CCDS11787.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.91|16.91	3.252941|3.252941	0.59212|0.59212	.|.	.|.	ENSG00000185624|ENSG00000185624	ENST00000331483;ENST00000537205;ENST00000436463|ENST00000415593	T|.	0.05139|.	3.49|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	0.097504|.	0.64402|.	D|.	0.000002|.	T|.	0.51244|.	0.1663|.	N|N	0.19112|0.19112	0.55|0.55	0.58432|0.58432	D|D	0.999996|0.999996	D|.	0.71674|.	0.998|.	D|.	0.72982|.	0.979|.	T|.	0.48614|.	-0.9020|.	10|.	0.87932|.	D|.	0|.	.|.	15.5365|15.5365	0.76007|0.76007	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	507|.	P07237|.	PDIA1_HUMAN|.	G|W	507;450;491|272	ENSP00000327801:E507G|.	ENSP00000327801:E507G|.	E|X	-|-	2|3	0|0	P4HB|P4HB	77395184|77395184	1.000000|1.000000	0.71417|0.71417	0.632000|0.632000	0.29296|0.29296	0.080000|0.080000	0.17528|0.17528	5.833000|5.833000	0.69349|0.69349	2.082000|2.082000	0.62665|0.62665	0.533000|0.533000	0.62120|0.62120	GAA|TGA		0.612	P4HB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317250.3		NM_000918		193	130	0	0	0	0.01441	0	193	130		
DSC2	1824	broad.mit.edu	37	18	28669557	28669557	+	Splice_Site	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr18:28669557C>G	ENST00000280904.6	-	5	918	c.475G>C	c.(475-477)Gtt>Ctt	p.V159L	DSC2_ENST00000251081.6_Splice_Site_p.V159L	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	159	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TCAGATTGAACCTAGAAAGTA	0.328																																						uc002kwl.3		NaN																	0				ovary(2)|skin(1)	3						c.(475-477)GTT>CTT		desmocollin 2 isoform Dsc2a preproprotein							51.0	53.0	52.0					18																	28669557		2203	4300	6503	SO:0001630	splice_region_variant	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28669557C>G	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"""Cadherins / Major cadherins"""	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.475-1G>C	18.37:g.28669557C>G						DSC2_uc002kwk.3_Missense_Mutation_p.V159L	p.V159L	NM_024422	NP_077740	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		5	929	-			159			Cadherin 1.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000280904.6	37	c.475G>C	CCDS11892.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.672046	0.47781	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000399347	T;T	0.51817	0.69;0.69	6.16	-5.25	0.02781	Cadherin (4);Cadherin-like (1);	0.258142	0.20349	N	0.094097	T	0.34106	0.0886	L	0.27944	0.81	0.29715	N	0.839063	B;B	0.19935	0.04;0.032	B;B	0.26517	0.07;0.042	T	0.04825	-1.0924	10	0.54805	T	0.06	.	17.5495	0.87872	0.0:0.7532:0.0:0.2468	.	159;159	Q02487;Q02487-2	DSC2_HUMAN;.	L	159;159;172	ENSP00000251081:V159L;ENSP00000280904:V159L	ENSP00000251081:V159L	V	-	1	0	DSC2	26923555	0.990000	0.36364	0.814000	0.32528	0.958000	0.62258	0.041000	0.13927	-1.273000	0.02424	0.650000	0.86243	GTT		0.328	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1		NM_004949	Missense_Mutation	15	20	0	0	0	0.004007	0	15	20		
DSC1	1823	broad.mit.edu	37	18	28720107	28720107	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr18:28720107G>A	ENST00000257198.5	-	10	1679	c.1418C>T	c.(1417-1419)cCt>cTt	p.P473L	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_Missense_Mutation_p.P473L	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	473	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TTTCACTGGAGGGTGGCATTC	0.473																																						uc002kwn.2		NaN																	0				ovary(3)|skin(1)	4						c.(1417-1419)CCT>CTT		desmocollin 1 isoform Dsc1a preproprotein							100.0	98.0	99.0					18																	28720107		2203	4300	6503	SO:0001583	missense	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28720107G>A	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"""Cadherins / Major cadherins"""	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.1418C>T	18.37:g.28720107G>A	ENSP00000257198:p.Pro473Leu					DSC1_uc002kwm.2_Missense_Mutation_p.P473L	p.P473L	NM_024421	NP_077739	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		10	1680	-			473			Extracellular (Potential).|Cadherin 4.		Q9HB01	Missense_Mutation	SNP	ENST00000257198.5	37	c.1418C>T	CCDS11894.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.291325	0.59976	.	.	ENSG00000134765	ENST00000257197;ENST00000257198	T;T	0.61040	0.14;0.14	5.83	5.83	0.93111	Cadherin (3);Cadherin-like (1);	0.000000	0.52532	D	0.000062	T	0.79661	0.4484	M	0.86097	2.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.963	T	0.82086	-0.0631	10	0.87932	D	0	.	17.9032	0.88911	0.0:0.0:1.0:0.0	.	473;473	Q08554;Q9HB00	DSC1_HUMAN;.	L	473	ENSP00000257197:P473L;ENSP00000257198:P473L	ENSP00000257197:P473L	P	-	2	0	DSC1	26974105	1.000000	0.71417	0.950000	0.38849	0.372000	0.29890	7.309000	0.78937	2.761000	0.94854	0.650000	0.86243	CCT		0.473	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1		NM_004948, NM_024421		52	61	0	0	0	0.01441	0	52	61		
KLHL14	57565	broad.mit.edu	37	18	30350069	30350069	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr18:30350069C>A	ENST00000359358.4	-	2	924	c.486G>T	c.(484-486)aaG>aaT	p.K162N	AC012123.1_ENST00000426194.1_Intron|KLHL14_ENST00000358095.4_Missense_Mutation_p.K162N	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	162						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						TGTGCAGGATCTTGCTGACCG	0.622																																						uc002kxm.1		NaN																	0				ovary(1)	1						c.(484-486)AAG>AAT		kelch-like 14							110.0	97.0	101.0					18																	30350069		2203	4300	6503	SO:0001583	missense	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30350069C>A	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"""Kelch-like"", ""BTB/POZ domain containing"""	29266	protein-coding gene	gene with protein product	"""printor"""	613772	"""kelch-like 14 (Drosophila)"""			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.486G>T	18.37:g.30350069C>A	ENSP00000352314:p.Lys162Asn						p.K162N	NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN			2	874	-			162					A6NNW1|B4DHA0|Q8WU41	Missense_Mutation	SNP	ENST00000359358.4	37	c.486G>T	CCDS32813.1	.	.	.	.	.	.	.	.	.	.	C	7.106	0.575011	0.13623	.	.	ENSG00000197705	ENST00000359358;ENST00000358095	T;T	0.21543	2.0;2.0	4.48	2.6	0.31112	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.06325	0.0163	N	0.02916	-0.46	0.50467	D	0.999873	B	0.27013	0.166	B	0.31101	0.124	T	0.27606	-1.0069	10	0.02654	T	1	.	4.8159	0.13367	0.1559:0.5751:0.0:0.269	.	162	Q9P2G3	KLH14_HUMAN	N	162	ENSP00000352314:K162N;ENSP00000350808:K162N	ENSP00000350808:K162N	K	-	3	2	KLHL14	28604067	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.047000	0.41269	0.996000	0.38943	0.460000	0.39030	AAG		0.622	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1				65	74	1	0	2.73361e-28	0.01441	3.55306e-28	65	74		
KLHL14	57565	broad.mit.edu	37	18	30350105	30350105	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr18:30350105G>A	ENST00000359358.4	-	2	888	c.450C>T	c.(448-450)tcC>tcT	p.S150S	AC012123.1_ENST00000426194.1_Intron|KLHL14_ENST00000358095.4_Silent_p.S150S	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	150	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						CCGTGTCCAGGGACAGGGTCA	0.642																																						uc002kxm.1		NaN																	0				ovary(1)	1						c.(448-450)TCC>TCT		kelch-like 14							98.0	93.0	95.0					18																	30350105		2203	4300	6503	SO:0001819	synonymous_variant	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30350105G>A	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"""Kelch-like"", ""BTB/POZ domain containing"""	29266	protein-coding gene	gene with protein product	"""printor"""	613772	"""kelch-like 14 (Drosophila)"""			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.450C>T	18.37:g.30350105G>A							p.S150S	NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN			2	838	-			150			BTB.		A6NNW1|B4DHA0|Q8WU41	Silent	SNP	ENST00000359358.4	37	c.450C>T	CCDS32813.1																																																																																				0.642	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1				70	102	0	0	0	0.01441	0	70	102		
CELF4	56853	broad.mit.edu	37	18	34852990	34852990	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr18:34852990G>T	ENST00000591282.1	-	7	937	c.938C>A	c.(937-939)aCc>aAc	p.T313N	CELF4_ENST00000601019.1_Missense_Mutation_p.T311N|CELF4_ENST00000334919.5_Missense_Mutation_p.T303N|CELF4_ENST00000591287.1_Missense_Mutation_p.T312N|CELF4_ENST00000361795.5_Missense_Mutation_p.T311N|CELF4_ENST00000588597.1_Missense_Mutation_p.T302N|CELF4_ENST00000412753.1_Missense_Mutation_p.T312N|RP11-797E24.3_ENST00000586610.1_RNA|RP11-797E24.3_ENST00000588766.1_RNA|CELF4_ENST00000420428.2_Missense_Mutation_p.T313N|CELF4_ENST00000603232.1_Missense_Mutation_p.T312N			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	313					alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						TGAGGTTGGGGTCATAGGTGC	0.662																																						uc002lae.2		NaN																	0				ovary(2)	2						c.(937-939)ACC>AAC		bruno-like 4, RNA binding protein isoform 1							26.0	30.0	28.0					18																	34852990		2203	4295	6498	SO:0001583	missense	56853				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr18:34852990G>T	AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	14015	protein-coding gene	gene with protein product		612679	"""Bruno (Drosophila) -like 4, RNA binding protein"", ""bruno-like 4, RNA binding protein (Drosophila)"""	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.938C>A	18.37:g.34852990G>T	ENSP00000464794:p.Thr313Asn					CELF4_uc010dnd.1_Missense_Mutation_p.T311N|CELF4_uc002lag.2_Missense_Mutation_p.T303N|CELF4_uc002laf.2_Missense_Mutation_p.T308N|CELF4_uc002lai.2_Missense_Mutation_p.T298N|CELF4_uc002lah.1_Missense_Mutation_p.T38N|CELF4_uc002laj.1_Missense_Mutation_p.D148E	p.T313N	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN			7	1334	-			313					Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Missense_Mutation	SNP	ENST00000591282.1	37	c.938C>A	CCDS32818.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.9|26.9	4.783126|4.783126	0.90282|0.90282	.|.	.|.	ENSG00000101489|ENSG00000101489	ENST00000361683|ENST00000361795;ENST00000412753;ENST00000420428;ENST00000334919	.|T;T;T	.|0.74947	.|-0.83;-0.83;-0.89	5.22|5.22	5.22|5.22	0.72569|0.72569	.|Nucleotide-binding, alpha-beta plait (1);	.|0.094436	.|0.64402	.|D	.|0.000001	D|D	0.87212|0.87212	0.6121|0.6121	M|M	0.82716|0.82716	2.605|2.605	0.80722|0.80722	D|D	1|1	.|D;P;P;D;D;B	.|0.76494	.|0.985;0.842;0.769;0.999;0.991;0.225	.|D;B;P;D;D;B	.|0.71656	.|0.956;0.302;0.888;0.974;0.931;0.127	D|D	0.87694|0.87694	0.2556|0.2556	6|10	0.39692|0.52906	T|T	0.17|0.07	-24.5988|-24.5988	18.9627|18.9627	0.92682|0.92682	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|311;302;38;303;312;313	.|Q9BZC1-3;B4DHA8;A0PK06;Q9BZC1-5;Q9BZC1-2;Q9BZC1	.|.;.;.;.;.;CELF4_HUMAN	E|N	195|313;312;311;303	.|ENSP00000355089:T313N;ENSP00000406823:T312N;ENSP00000335631:T303N	ENSP00000355189:D195E|ENSP00000335631:T303N	D|T	-|-	3|2	2|0	CELF4|CELF4	33106988|33106988	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.218000|9.218000	0.95166|0.95166	2.715000|2.715000	0.92844|0.92844	0.655000|0.655000	0.94253|0.94253	GAC|ACC		0.662	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440892.1		NM_020180		40	36	1	0	6.21074e-16	0.011902	7.24152e-16	40	36		
ST8SIA3	51046	broad.mit.edu	37	18	55024154	55024154	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr18:55024154C>A	ENST00000324000.3	+	3	2347	c.313C>A	c.(313-315)Ctt>Att	p.L105I		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	105					cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid biosynthetic process (GO:0006688)|N-glycan processing (GO:0006491)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)	p.L105I(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		GCAAGAAATTCTTCAGCATGT	0.318																																						uc002lgn.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)	breast(1)|skin(1)	2						c.(313-315)CTT>ATT		ST8 alpha-N-acetyl-neuraminide							39.0	43.0	41.0					18																	55024154		2202	4300	6502	SO:0001583	missense	51046				glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr18:55024154C>A	AF004668	CCDS32834.1	18q21.31	2013-03-01	2005-02-07	2005-02-07	ENSG00000177511	ENSG00000177511		"""Sialyltransferases"""	14269	protein-coding gene	gene with protein product	"""ST8Sia III"""	609478	"""sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)"""	SIAT8C			Standard	NM_015879		Approved		uc002lgn.3	O43173	OTTHUMG00000180101	ENST00000324000.3:c.313C>A	18.37:g.55024154C>A	ENSP00000320431:p.Leu105Ile						p.L105I	NM_015879	NP_056963	O43173	SIA8C_HUMAN		READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)	3	670	+			105			Lumenal (Potential).		A8K0F2|Q6B085|Q9NS41	Missense_Mutation	SNP	ENST00000324000.3	37	c.313C>A	CCDS32834.1	.	.	.	.	.	.	.	.	.	.	C	11.81	1.749406	0.30955	.	.	ENSG00000177511	ENST00000541833;ENST00000324000	T	0.15256	2.44	5.74	3.95	0.45737	.	0.271848	0.39759	N	0.001267	T	0.12944	0.0314	L	0.40543	1.245	0.42570	D	0.99317	B	0.30763	0.294	B	0.16722	0.016	T	0.07347	-1.0777	10	0.32370	T	0.25	-26.7161	11.5084	0.50481	0.0:0.8065:0.1254:0.0681	.	105	O43173	SIA8C_HUMAN	I	212;105	ENSP00000320431:L105I	ENSP00000320431:L105I	L	+	1	0	ST8SIA3	53175152	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.575000	0.53870	0.776000	0.33473	-0.126000	0.14955	CTT		0.318	ST8SIA3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449765.1		NM_015879		24	21	1	0	5.35047e-06	0.01892	5.52982e-06	24	21		
SHD	56961	broad.mit.edu	37	19	4280064	4280064	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:4280064G>A	ENST00000543264.2	+	1	1467	c.4G>A	c.(4-6)Gcc>Acc	p.A2T	SHD_ENST00000599689.1_Missense_Mutation_p.A2T	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	2										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCCAAATGGCCAAGTGGCT	0.682																																						uc002lzw.2		NaN																	0					0						c.(4-6)GCC>ACC		Src homology 2 domain containing transforming							13.0	17.0	16.0					19																	4280064		2193	4283	6476	SO:0001583	missense	56961							g.chr19:4280064G>A	BC007206	CCDS12125.1	19p13.3	2013-02-14				ENSG00000105251		"""SH2 domain containing"""	30633	protein-coding gene	gene with protein product		610481				9315092	Standard	NM_020209		Approved		uc002lzw.2	Q96IW2		ENST00000543264.2:c.4G>A	19.37:g.4280064G>A	ENSP00000446058:p.Ala2Thr					SHD_uc010dtu.2_Missense_Mutation_p.A2T	p.A2T	NM_020209	NP_064594	Q96IW2	SHD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)	1	1467	+			2					Q96NC2	Missense_Mutation	SNP	ENST00000543264.2	37	c.4G>A	CCDS12125.1	.	.	.	.	.	.	.	.	.	.	G	36	5.675382	0.96764	.	.	ENSG00000105251	ENST00000543264	T	0.51071	0.72	4.36	4.36	0.52297	.	0.000000	0.85682	D	0.000000	T	0.66356	0.2781	M	0.73217	2.22	0.45718	D	0.998623	D	0.89917	1.0	D	0.70487	0.969	T	0.71494	-0.4576	10	0.87932	D	0	-14.1164	14.7082	0.69208	0.0:0.0:1.0:0.0	.	2	Q96IW2	SHD_HUMAN	T	2	ENSP00000446058:A2T	ENSP00000446058:A2T	A	+	1	0	SHD	4231064	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.308000	0.72820	2.118000	0.64928	0.484000	0.47621	GCC		0.682	SHD-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458082.1		NM_020209		8	1	0	0	0	0.004482	0	8	1		
RPL36	25873	broad.mit.edu	37	19	5693378	5693379	+	IGR	DNP	GG	GG	TC			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:5693378_5693379GG>TC	ENST00000577222.1	+	0	874				LONP1_ENST00000360614.3_Missense_Mutation_p.A878G|LONP1_ENST00000590729.1_Missense_Mutation_p.A748G|LONP1_ENST00000593119.1_Missense_Mutation_p.A814G|LONP1_ENST00000540670.2_Missense_Mutation_p.A682G|LONP1_ENST00000585374.1_Missense_Mutation_p.A764G			Q9Y3U8	RL36_HUMAN	ribosomal protein L36						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|upper_aerodigestive_tract(1)	2						CGCCAGTCATGGCCAGATTCTG	0.649																																						uc002mcx.2		NaN																	0					0						c.(2632-2634)GCC>GGA		mitochondrial lon peptidase 1 precursor																																				SO:0001628	intergenic_variant	9361				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding	g.chr19:5693378_5693379GG>TC		CCDS12147.1	19p13.2	2011-04-06				ENSG00000130255		"""L ribosomal proteins"""	13631	protein-coding gene	gene with protein product							Standard	NM_033643		Approved	DKFZp566B023, L36	uc002mcv.3	Q9Y3U8		Exception_encountered	19.37:g.5693378_5693379delinsTC						LONP1_uc002mcy.2_Missense_Mutation_p.A814G|LONP1_uc010duh.2_Missense_Mutation_p.A619G|LONP1_uc010dui.2_Missense_Mutation_p.A862G|LONP1_uc002mcz.2_Missense_Mutation_p.A682G	p.A878G	NM_004793	NP_004784	P36776	LONM_HUMAN			17	2666_2667	-			878					B2R4Y1|D6W634|Q6FIG1|Q9UQF6	Missense_Mutation	DNP	ENST00000577222.1	37	c.2633_2634CC>GA	CCDS12147.1																																																																																				0.649	RPL36-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442561.1		NM_015414		61	11	0	0	0	0.004672	0	61	11		
FUT5	2527	broad.mit.edu	37	19	5866680	5866680	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:5866680C>T	ENST00000588525.1	-	2	1144	c.1057G>A	c.(1057-1059)Gcc>Acc	p.A353T	FUT5_ENST00000252675.5_Missense_Mutation_p.A353T	NM_002034.2	NP_002025.2	Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	353					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						TTCCAGCAGGCCTTGCAGAAA	0.652																																						uc002mdo.3		NaN																	0					0						c.(1057-1059)GCC>ACC		fucosyltransferase 5							46.0	52.0	50.0					19																	5866680		2203	4300	6503	SO:0001583	missense	2527				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity	g.chr19:5866680C>T		CCDS12154.1	19p13.3	2013-02-26				ENSG00000130383	2.4.1.65	"""Fucosyltransferases"""	4016	protein-coding gene	gene with protein product		136835				1740457	Standard	NM_002034		Approved	FUC-TV	uc002mdo.4	Q11128	OTTHUMG00000180616	ENST00000588525.1:c.1057G>A	19.37:g.5866680C>T	ENSP00000466880:p.Ala353Thr					FUT5_uc010duo.2_Missense_Mutation_p.A353T	p.A353T	NM_002034	NP_002025	Q11128	FUT5_HUMAN			2	1145	-			353			Lumenal (Potential).		A8K4X2	Missense_Mutation	SNP	ENST00000588525.1	37	c.1057G>A	CCDS12154.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.357592	0.61293	.	.	ENSG00000130383	ENST00000252675	T	0.26223	1.75	2.34	1.27	0.21489	.	0.099907	0.42053	U	0.000777	T	0.40595	0.1123	M	0.64997	1.995	0.25641	N	0.986201	D	0.89917	1.0	D	0.85130	0.997	T	0.10222	-1.0639	10	0.44086	T	0.13	.	6.8171	0.23837	0.0:0.8437:0.0:0.1563	.	353	Q11128	FUT5_HUMAN	T	353	ENSP00000252675:A353T	ENSP00000252675:A353T	A	-	1	0	FUT5	5817680	0.998000	0.40836	0.721000	0.30653	0.447000	0.32167	3.851000	0.55926	0.308000	0.22923	0.407000	0.27541	GCC		0.652	FUT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452213.1		NM_002034		39	7	0	0	0	0.010771	0	39	7		
C3	718	broad.mit.edu	37	19	6696452	6696452	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:6696452G>T	ENST00000245907.6	-	23	2980	c.2888C>A	c.(2887-2889)cCa>cAa	p.P963Q		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	963					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	GTCTGCAGGTGGGATGTCCTC	0.572																																						uc002mfm.2		NaN																	0				skin(3)|ovary(1)|pancreas(1)	5						c.(2887-2889)CCA>CAA		complement component 3 precursor							167.0	122.0	138.0					19																	6696452		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6696452G>T	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2888C>A	19.37:g.6696452G>T	ENSP00000245907:p.Pro963Gln						p.P963Q	NM_000064	NP_000055	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	23	2950	-			963					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.2888C>A	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.877684	0.51801	.	.	ENSG00000125730	ENST00000245907	T	0.34859	1.34	5.95	-6.53	0.01866	.	1.451170	0.03683	N	0.245826	T	0.36880	0.0983	M	0.78049	2.395	0.09310	N	1	B	0.20052	0.041	B	0.19946	0.027	T	0.36163	-0.9759	10	0.14252	T	0.57	.	12.1759	0.54186	0.0:0.1341:0.4622:0.4037	.	963	P01024	CO3_HUMAN	Q	963	ENSP00000245907:P963Q	ENSP00000245907:P963Q	P	-	2	0	C3	6647452	0.000000	0.05858	0.000000	0.03702	0.628000	0.37860	-0.933000	0.03959	-0.871000	0.04042	0.650000	0.86243	CCA		0.572	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2		NM_000064		36	22	1	0	4.4194e-11	0.013726	4.87628e-11	36	22		
VAV1	7409	broad.mit.edu	37	19	6828657	6828657	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:6828657G>T	ENST00000602142.1	+	12	1199	c.1117G>T	c.(1117-1119)Gtc>Ttc	p.V373F	VAV1_ENST00000599806.1_Missense_Mutation_p.V318F|VAV1_ENST00000539284.1_Missense_Mutation_p.V276F|VAV1_ENST00000596764.1_Missense_Mutation_p.V341F|VAV1_ENST00000304076.2_Missense_Mutation_p.V373F	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	373	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CGTGAACGAGGTCAAGCGAGA	0.632																																						uc002mfu.1		NaN																	0				lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1)	16						c.(1117-1119)GTC>TTC		vav 1 guanine nucleotide exchange factor							130.0	132.0	131.0					19																	6828657		2203	4300	6503	SO:0001583	missense	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6828657G>T		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.1117G>T	19.37:g.6828657G>T	ENSP00000472929:p.Val373Phe					VAV1_uc010xjh.1_Missense_Mutation_p.V341F|VAV1_uc010dva.1_Missense_Mutation_p.V373F|VAV1_uc002mfv.1_Missense_Mutation_p.V318F	p.V373F	NM_005428	NP_005419	P15498	VAV_HUMAN			12	1214	+			373			DH.		B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	c.1117G>T	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	G	32	5.120673	0.94385	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T;T	0.69040	1.51;-0.37	5.28	5.28	0.74379	Dbl homology (DH) domain (3);	0.000000	0.64402	D	0.000001	D	0.83741	0.5320	M	0.87456	2.885	0.80722	D	1	D;D;D;D	0.89917	0.998;0.996;1.0;0.997	D;P;D;D	0.72338	0.932;0.893;0.977;0.961	D	0.86445	0.1769	10	0.66056	D	0.02	.	16.4086	0.83699	0.0:0.0:1.0:0.0	.	276;373;318;373	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	F	373;276	ENSP00000302269:V373F;ENSP00000443242:V276F	ENSP00000302269:V373F	V	+	1	0	VAV1	6779657	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.701000	0.61810	2.484000	0.83849	0.591000	0.81541	GTC		0.632	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1				33	520	1	0	1.36615e-20	0.013726	1.67007e-20	33	520		
FBN3	84467	broad.mit.edu	37	19	8176067	8176067	+	Splice_Site	SNP	T	T	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:8176067T>C	ENST00000600128.1	-	33	4499	c.4085A>G	c.(4084-4086)gAc>gGc	p.D1362G	FBN3_ENST00000601739.1_Splice_Site_p.D1362G|FBN3_ENST00000270509.2_Splice_Site_p.D1362G			Q75N90	FBN3_HUMAN	fibrillin 3	1362	EGF-like 21; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TTCATCCCTGTCTGAGGGGCC	0.637																																						uc002mjf.2		NaN																	0				ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.(4084-4086)GAC>GGC		fibrillin 3 precursor							59.0	54.0	56.0					19																	8176067		2203	4300	6503	SO:0001630	splice_region_variant	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8176067T>C		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.4085-1A>G	19.37:g.8176067T>C							p.D1362G	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			32	4106	-			1362			EGF-like 21; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.4085A>G	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	T	15.63	2.890754	0.52014	.	.	ENSG00000142449	ENST00000270509	D	0.99060	-5.38	3.66	3.66	0.41972	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.99384	0.9783	M	0.93150	3.385	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	D	0.98745	1.0718	10	0.72032	D	0.01	.	12.5695	0.56328	0.0:0.0:0.0:1.0	.	1362	Q75N90	FBN3_HUMAN	G	1362	ENSP00000270509:D1362G	ENSP00000270509:D1362G	D	-	2	0	FBN3	8082067	1.000000	0.71417	0.994000	0.49952	0.085000	0.17905	7.494000	0.81503	1.435000	0.47434	0.260000	0.18958	GAC		0.637	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2		NM_032447	Missense_Mutation	35	197	0	0	0	0.005524	0	35	197		
MYO1F	4542	broad.mit.edu	37	19	8609325	8609325	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:8609325G>A	ENST00000338257.8	-	14	1647	c.1380C>T	c.(1378-1380)gtC>gtT	p.V460V	AC092316.2_ENST00000581156.1_RNA	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	460	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CGTCGTCCAAGACGCTCATGA	0.657																																						uc002mkg.2		NaN																	0				ovary(2)|skin(1)	3						c.(1378-1380)GTC>GTT		myosin IF							16.0	21.0	19.0					19																	8609325		2056	4206	6262	SO:0001819	synonymous_variant	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8609325G>A	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.1380C>T	19.37:g.8609325G>A							p.V460V	NM_012335	NP_036467	O00160	MYO1F_HUMAN			14	1494	-			460			Myosin head-like.		Q8WWN7	Silent	SNP	ENST00000338257.8	37	c.1380C>T	CCDS42494.1																																																																																				0.657	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2				35	115	0	0	0	0.019004	0	35	115		
MUC16	94025	broad.mit.edu	37	19	9001859	9001859	+	Silent	SNP	T	T	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:9001859T>C	ENST00000397910.4	-	53	40592	c.40389A>G	c.(40387-40389)agA>agG	p.R13463R	MUC16_ENST00000380951.5_Silent_p.R104R	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13465					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						AGGCTGGAGTTCTCGAGGTTG	0.488																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(40387-40389)AGA>AGG		mucin 16							91.0	89.0	90.0					19																	9001859		2014	4174	6188	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9001859T>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.40389A>G	19.37:g.9001859T>C						MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Silent_p.R280R|MUC16_uc010xki.1_RNA	p.R13463R	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			53	40593	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.40389A>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	5.655	0.305558	0.10678	.	.	ENSG00000181143	ENST00000542240	.	.	.	1.04	-0.212	0.13169	.	.	.	.	.	T	0.27559	0.0677	.	.	.	.	.	.	.	.	.	.	.	.	T	0.31779	-0.9931	3	.	.	.	.	3.2569	0.06835	0.0:0.6573:0.0:0.3427	.	.	.	.	G	303	.	.	E	-	2	0	MUC16	8862859	0.000000	0.05858	0.001000	0.08648	0.338000	0.28826	-0.462000	0.06704	0.005000	0.14708	0.228000	0.17796	GAA		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		8	39	0	0	0	0.013537	0	8	39		
MUC16	94025	broad.mit.edu	37	19	9016999	9016999	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:9016999G>A	ENST00000397910.4	-	27	38199	c.37996C>T	c.(37996-37998)Cct>Tct	p.P12666S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12668					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						GTGGGCACAGGGATCCAATGG	0.537																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(37996-37998)CCT>TCT		mucin 16							114.0	105.0	108.0					19																	9016999		1972	4146	6118	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9016999G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.37996C>T	19.37:g.9016999G>A	ENSP00000381008:p.Pro12666Ser						p.P12666S	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			27	38200	-			12668			Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.37996C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	2.727	-0.265380	0.05754	.	.	ENSG00000181143	ENST00000397910	T	0.01981	4.52	1.48	0.419	0.16438	.	.	.	.	.	T	0.00637	0.0021	N	0.00114	-2.085	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.45848	-0.9233	8	0.87932	D	0	.	4.2675	0.10769	0.562:0.0:0.438:0.0	.	12666	B5ME49	.	S	12666	ENSP00000381008:P12666S	ENSP00000381008:P12666S	P	-	1	0	MUC16	8877999	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.140000	0.16056	-0.350000	0.08262	-0.556000	0.04195	CCT		0.537	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		25	141	0	0	0	0.005443	0	25	141		
MUC16	94025	broad.mit.edu	37	19	9057120	9057120	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:9057120G>T	ENST00000397910.4	-	3	30529	c.30326C>A	c.(30325-30327)aCc>aAc	p.T10109N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10111	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAACTGGTGGTTCCCACATT	0.488																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(30325-30327)ACC>AAC		mucin 16							101.0	98.0	99.0					19																	9057120		1947	4155	6102	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9057120G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.30326C>A	19.37:g.9057120G>T	ENSP00000381008:p.Thr10109Asn						p.T10109N	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	30530	-			10111			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.30326C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	5.342	0.248361	0.10130	.	.	ENSG00000181143	ENST00000397910	T	0.39592	1.07	2.95	-0.54	0.11861	.	.	.	.	.	T	0.30603	0.0770	N	0.11201	0.11	.	.	.	D	0.62365	0.991	P	0.55749	0.783	T	0.32613	-0.9900	8	0.87932	D	0	.	3.2199	0.06711	0.2699:0.2263:0.5038:0.0	.	10109	B5ME49	.	N	10109	ENSP00000381008:T10109N	ENSP00000381008:T10109N	T	-	2	0	MUC16	8918120	0.002000	0.14202	0.000000	0.03702	0.007000	0.05969	0.715000	0.25822	-0.014000	0.14175	0.563000	0.77884	ACC		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		38	186	1	0	2.87052e-16	0.005524	3.36816e-16	38	186		
MUC16	94025	broad.mit.edu	37	19	9058002	9058002	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:9058002G>T	ENST00000397910.4	-	3	29647	c.29444C>A	c.(29443-29445)gCc>gAc	p.A9815D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9817	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCTCACTTTGGCCACCGCTGT	0.458																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(29443-29445)GCC>GAC		mucin 16							111.0	110.0	111.0					19																	9058002		2006	4174	6180	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9058002G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.29444C>A	19.37:g.9058002G>T	ENSP00000381008:p.Ala9815Asp						p.A9815D	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	29648	-			9817			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.29444C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	5.338	0.247716	0.10130	.	.	ENSG00000181143	ENST00000397910	T	0.23348	1.91	2.43	0.0882	0.14454	.	.	.	.	.	T	0.12518	0.0304	N	0.08118	0	.	.	.	B	0.26195	0.144	B	0.27796	0.083	T	0.19877	-1.0292	8	0.87932	D	0	.	6.7327	0.23393	0.0:0.0:0.4915:0.5085	.	9815	B5ME49	.	D	9815	ENSP00000381008:A9815D	ENSP00000381008:A9815D	A	-	2	0	MUC16	8919002	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.979000	0.03774	0.102000	0.17638	0.557000	0.71058	GCC		0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		73	138	1	0	1.08321e-29	0.01441	1.43138e-29	73	138		
MUC16	94025	broad.mit.edu	37	19	9068085	9068085	+	Missense_Mutation	SNP	G	G	A	rs201728641		TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:9068085G>A	ENST00000397910.4	-	3	19564	c.19361C>T	c.(19360-19362)gCg>gTg	p.A6454V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6456	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.A6454V(2)|p.A6454E(2)|p.A2087V(1)|p.A2087E(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGTGATGTCGCCCTATGAGG	0.498																																						uc002mkp.2		NaN																	6	Substitution - Missense(6)		lung(3)|kidney(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(19360-19362)GCG>GTG		mucin 16			VAL/ALA	0,4030		0,0,2015	281.0	274.0	277.0		19361	-0.3	0.0	19		277	7,8361		0,7,4177	yes	missense	MUC16	NM_024690.2	64	0,7,6192	AA,AG,GG		0.0837,0.0,0.0565	probably-damaging	6454/14508	9068085	7,12391	2015	4184	6199	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9068085G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.19361C>T	19.37:g.9068085G>A	ENSP00000381008:p.Ala6454Val						p.A6454V	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	19565	-			6456			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.19361C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	6.353	0.433141	0.12045	0.0	8.37E-4	ENSG00000181143	ENST00000397910	T	0.02709	4.19	2.15	-0.287	0.12858	.	.	.	.	.	T	0.02267	0.0070	L	0.48642	1.525	.	.	.	P	0.39404	0.672	B	0.28638	0.092	T	0.40887	-0.9539	8	0.87932	D	0	.	2.954	0.05870	0.1898:0.2991:0.5111:0.0	.	6454	B5ME49	.	V	6454	ENSP00000381008:A6454V	ENSP00000381008:A6454V	A	-	2	0	MUC16	8929085	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.023000	0.12456	0.010000	0.14839	0.177000	0.17058	GCG		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		91	433	0	0	0	0.01441	0	91	433		
MUC16	94025	broad.mit.edu	37	19	9086125	9086125	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:9086125G>T	ENST00000397910.4	-	1	5893	c.5690C>A	c.(5689-5691)aCt>aAt	p.T1897N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1897	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCTGTGTAAGTCATGGAAGT	0.488																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(5689-5691)ACT>AAT		mucin 16							91.0	85.0	87.0					19																	9086125		1938	4155	6093	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9086125G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.5690C>A	19.37:g.9086125G>T	ENSP00000381008:p.Thr1897Asn						p.T1897N	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	5894	-			1897			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.5690C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	0.009	-1.856814	0.00558	.	.	ENSG00000181143	ENST00000397910	T	0.02525	4.26	0.225	-0.451	0.12214	.	.	.	.	.	T	0.01254	0.0041	N	0.08118	0	.	.	.	B	0.34226	0.443	B	0.23574	0.047	T	0.45101	-0.9284	7	0.87932	D	0	.	.	.	.	.	1897	B5ME49	.	N	1897	ENSP00000381008:T1897N	ENSP00000381008:T1897N	T	-	2	0	MUC16	8947125	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.096000	0.15147	-1.864000	0.01148	-1.842000	0.00583	ACT		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		25	109	1	0	2.27525e-19	0.021523	2.73919e-19	25	109		
MUC16	94025	broad.mit.edu	37	19	9090068	9090068	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:9090068C>G	ENST00000397910.4	-	1	1950	c.1747G>C	c.(1747-1749)Gaa>Caa	p.E583Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	583	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						GATGTTTCTTCAAGCCAAATC	0.532																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(1747-1749)GAA>CAA		mucin 16							50.0	50.0	50.0					19																	9090068		2085	4229	6314	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090068C>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.1747G>C	19.37:g.9090068C>G	ENSP00000381008:p.Glu583Gln						p.E583Q	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	1951	-			583			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.1747G>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	1.559	-0.537224	0.04082	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	1.57	-3.13	0.05266	.	.	.	.	.	T	0.01558	0.0050	N	0.08118	0	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.44034	-0.9354	8	0.87932	D	0	.	4.5872	0.12287	0.0:0.3364:0.4006:0.263	.	583	B5ME49	.	Q	583	ENSP00000381008:E583Q	ENSP00000381008:E583Q	E	-	1	0	MUC16	8951068	0.000000	0.05858	0.000000	0.03702	0.293000	0.27360	-3.367000	0.00495	-2.027000	0.00932	-1.021000	0.02439	GAA		0.532	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		104	28	0	0	0	0.01441	0	104	28		
ZNF846	162993	broad.mit.edu	37	19	9868990	9868990	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:9868990C>T	ENST00000397902.2	-	6	1176	c.763G>A	c.(763-765)Gtc>Atc	p.V255I	ZNF846_ENST00000588267.1_Missense_Mutation_p.V126I|ZNF846_ENST00000592859.1_Missense_Mutation_p.V126I|ZNF846_ENST00000586293.1_3'UTR	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	255					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)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						TCTTTACAGACATAGGGCTTC	0.393																																						uc002mmb.1		NaN																	0				ovary(1)	1						c.(763-765)GTC>ATC		zinc finger protein 846							86.0	91.0	89.0					19																	9868990		2091	4248	6339	SO:0001583	missense	162993				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9868990C>T	AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"""Zinc fingers, C2H2-type"", ""-"""	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.763G>A	19.37:g.9868990C>T	ENSP00000380999:p.Val255Ile					ZNF846_uc010xky.1_RNA|ZNF846_uc010xkz.1_RNA|ZNF846_uc010dww.2_Missense_Mutation_p.V126I|ZNF846_uc002mmc.1_Missense_Mutation_p.V126I	p.V255I	NM_001077624	NP_001071092	Q147U1	ZN846_HUMAN			6	1294	-			255			C2H2-type 5.		A8K0H1|B3KUP1	Missense_Mutation	SNP	ENST00000397902.2	37	c.763G>A	CCDS42496.1	.	.	.	.	.	.	.	.	.	.	.	8.907	0.957691	0.18507	.	.	ENSG00000196605	ENST00000397902	T	0.07567	3.18	1.54	-3.09	0.05331	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05273	0.0140	L	0.35414	1.06	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.41179	-0.9523	8	.	.	.	.	4.666	0.12666	0.0:0.4663:0.1948:0.3389	.	255	Q147U1	ZN846_HUMAN	I	255	ENSP00000380999:V255I	.	V	-	1	0	ZNF846	9729990	0.000000	0.05858	0.000000	0.03702	0.397000	0.30659	-7.521000	0.00034	-1.644000	0.01517	-0.696000	0.03686	GTC		0.393	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450253.1		NM_001077624		47	107	0	0	0	0.01441	0	47	107		
OLFM2	93145	broad.mit.edu	37	19	9968097	9968097	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:9968097G>A	ENST00000264833.4	-	4	607	c.422C>T	c.(421-423)gCa>gTa	p.A141V	OLFM2_ENST00000590841.1_Missense_Mutation_p.A63V	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	141					protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						CCGCGTGTCTGCCTTGTACTG	0.597																																						uc002mmp.2		NaN																	0				large_intestine(1)|skin(1)	2						c.(421-423)GCA>GTA		olfactomedin 2 precursor							109.0	90.0	97.0					19																	9968097		2203	4300	6503	SO:0001583	missense	93145					extracellular region		g.chr19:9968097G>A	AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"""noelin 2"""						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.422C>T	19.37:g.9968097G>A	ENSP00000264833:p.Ala141Val					OLFM2_uc002mmo.2_Missense_Mutation_p.A63V	p.A141V	NM_058164	NP_477512	O95897	NOE2_HUMAN			4	450	-			141			Potential.		Q6IMJ3|Q96FC2	Missense_Mutation	SNP	ENST00000264833.4	37	c.422C>T	CCDS12221.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.752563	0.49362	.	.	ENSG00000105088	ENST00000264833	D	0.88818	-2.43	3.84	3.84	0.44239	.	0.248292	0.34932	N	0.003566	D	0.82655	0.5084	L	0.42245	1.32	0.37633	D	0.921764	B	0.34264	0.446	B	0.29524	0.103	T	0.83050	-0.0153	9	.	.	.	.	13.3045	0.60345	0.0:0.0:1.0:0.0	.	141	O95897	NOE2_HUMAN	V	141	ENSP00000264833:A141V	.	A	-	2	0	OLFM2	9829097	0.996000	0.38824	0.998000	0.56505	0.756000	0.42949	7.612000	0.82975	1.988000	0.58038	0.462000	0.41574	GCA		0.597	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1				40	146	0	0	0	0.01441	0	40	146		
C19orf52	90580	broad.mit.edu	37	19	11040151	11040151	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:11040151G>T	ENST00000270502.6	+	2	646	c.556G>T	c.(556-558)Gac>Tac	p.D186Y	YIPF2_ENST00000590329.1_5'Flank|YIPF2_ENST00000253031.2_5'Flank|YIPF2_ENST00000586748.1_5'Flank	NM_138358.2	NP_612367.1	Q9BSF4	CS052_HUMAN	chromosome 19 open reading frame 52	186										prostate(1)	1						CGACATCAACGACGACGAATT	0.672																																						uc002mqd.1		NaN																	0					0						c.(556-558)GAC>TAC		hypothetical protein LOC90580							29.0	33.0	32.0					19																	11040151		2202	4299	6501	SO:0001583	missense	90580							g.chr19:11040151G>T	BC011833	CCDS12252.1	19p13.2	2011-11-24			ENSG00000142444	ENSG00000142444			25152	protein-coding gene	gene with protein product						12477932	Standard	NM_138358		Approved		uc002mqd.2	Q9BSF4		ENST00000270502.6:c.556G>T	19.37:g.11040151G>T	ENSP00000270502:p.Asp186Tyr					YIPF2_uc002mqb.2_5'Flank|YIPF2_uc002mqc.2_5'Flank	p.D186Y	NM_138358	NP_612367	Q9BSF4	CS052_HUMAN			2	631	+			186					Q96EY6|Q96IT8	Missense_Mutation	SNP	ENST00000270502.6	37	c.556G>T	CCDS12252.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.943280	0.53079	.	.	ENSG00000142444	ENST00000270502	.	.	.	4.55	3.48	0.39840	.	0.059683	0.64402	D	0.000004	T	0.52693	0.1750	L	0.50333	1.59	0.47698	D	0.999496	P	0.40211	0.707	B	0.39339	0.297	T	0.59653	-0.7414	9	0.66056	D	0.02	-22.8904	13.6831	0.62499	0.0:0.1564:0.8436:0.0	.	186	Q9BSF4	CS052_HUMAN	Y	186	.	ENSP00000270502:D186Y	D	+	1	0	C19orf52	10901151	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	4.971000	0.63749	1.225000	0.43566	0.655000	0.94253	GAC		0.672	C19orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452635.1		NM_138358		100	40	1	0	3.45148e-53	0.01441	4.87423e-53	100	40		
SMARCA4	6597	broad.mit.edu	37	19	11143966	11143966	+	Splice_Site	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:11143966G>C	ENST00000429416.3	+	27	3828	c.3547G>C	c.(3547-3549)Gac>Cac	p.D1183H	SMARCA4_ENST00000344626.4_Splice_Site_p.D1183H|SMARCA4_ENST00000590574.1_Splice_Site_p.D1183H|SMARCA4_ENST00000450717.3_Splice_Site_p.D1183H|SMARCA4_ENST00000589677.1_Splice_Site_p.D1183H|SMARCA4_ENST00000358026.2_Splice_Site_p.D1183H|SMARCA4_ENST00000413806.3_Splice_Site_p.D1183H|SMARCA4_ENST00000444061.3_Splice_Site_p.D1183H|SMARCA4_ENST00000541122.2_Splice_Site_p.D1183H	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1183	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTTCCCCCAGGACCTGCAAGC	0.627			"""F, N, Mis"""		NSCLC																																	uc002mqf.3		NaN		Rec	yes		19	19p13.2	6597	F|N|Mis	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)		lung(1)	lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67						c.(3547-3549)GAC>CAC		SWI/SNF-related matrix-associated							41.0	42.0	42.0					19																	11143966		2203	4298	6501	SO:0001630	splice_region_variant	6597	Rhabdoid_Predisposition_syndrome			chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11143966G>C	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3547-1G>C	19.37:g.11143966G>C						SMARCA4_uc010dxp.2_Missense_Mutation_p.D1183H|SMARCA4_uc010dxo.2_Missense_Mutation_p.D1183H|SMARCA4_uc010dxq.2_Missense_Mutation_p.D1183H|SMARCA4_uc010dxr.2_Missense_Mutation_p.D1183H|SMARCA4_uc002mqj.3_Missense_Mutation_p.D1183H|SMARCA4_uc010dxs.2_Missense_Mutation_p.D1183H|SMARCA4_uc010dxt.1_Missense_Mutation_p.D403H|SMARCA4_uc002mqh.3_Missense_Mutation_p.D306H|SMARCA4_uc002mqi.1_Missense_Mutation_p.D386H	p.D1183H	NM_003072	NP_003063	P51532	SMCA4_HUMAN			26	3831	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1183			Helicase C-terminal.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.3547G>C	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.915293	0.73098	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T;T;T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94	4.74	4.74	0.60224	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.91686	0.7372	H	0.98525	4.255	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.999;1.0;1.0	D	0.94847	0.8010	9	.	.	.	-56.3457	16.7067	0.85374	0.0:0.0:1.0:0.0	.	1183;1183;1183;1183;1183;403;1183	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	H	1183;1183;1247;1183;1183;1183;1183;1183	ENSP00000395654:D1183H;ENSP00000350720:D1183H;ENSP00000343896:D1183H;ENSP00000445036:D1183H;ENSP00000392837:D1183H;ENSP00000397783:D1183H;ENSP00000414727:D1183H	.	D	+	1	0	SMARCA4	11004966	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	9.319000	0.96338	2.488000	0.83962	0.558000	0.71614	GAC		0.627	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2		NM_003072	Missense_Mutation	107	48	0	0	0	0.01441	0	107	48		
ZNF653	115950	broad.mit.edu	37	19	11609127	11609127	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:11609127C>T	ENST00000293771.5	-	2	463	c.327G>A	c.(325-327)aaG>aaA	p.K109K	CTC-398G3.6_ENST00000585656.1_Missense_Mutation_p.S80N|ZNF653_ENST00000593191.1_5'UTR	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	109					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)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						TCCGCTTTGGCTTTTTGGGGA	0.597																																					Pancreas(83;980 1446 4542 6441 43352)	uc002mrz.1		NaN																	0					0						c.(325-327)AAG>AAA		zinc finger protein 653							197.0	188.0	191.0					19																	11609127		2203	4300	6503	SO:0001819	synonymous_variant	115950				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11609127C>T	AY072704	CCDS12261.1	19p13.2	2013-01-08						"""Zinc fingers, C2H2-type"""	25196	protein-coding gene	gene with protein product		611371				12477932	Standard	NM_138783		Approved	Zip67	uc002mrz.2	Q96CK0		ENST00000293771.5:c.327G>A	19.37:g.11609127C>T							p.K109K	NM_138783	NP_620138	Q96CK0	ZN653_HUMAN			2	380	-			109			Nuclear localization signal (Potential).		Q96AS7	Silent	SNP	ENST00000293771.5	37	c.327G>A	CCDS12261.1																																																																																				0.597	ZNF653-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458836.2		NM_138783		138	514	0	0	0	0.01441	0	138	514		
ZNF878	729747	broad.mit.edu	37	19	12167103	12167103	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:12167103G>C	ENST00000602107.1	-	1	24	c.25C>G	c.(25-27)Ctg>Gtg	p.L9V				C9JN71	ZN878_HUMAN	zinc finger protein 878	0	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TACAACCCCAGATAGGACAGA	0.562																																						uc002mta.1		NaN																	0					0						c.(25-27)CTG>GTG		zinc finger protein 878							39.0	40.0	40.0					19																	12167103		1877	4114	5991	SO:0001583	missense	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12167103G>C		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000602107.1:c.25C>G	19.37:g.12167103G>C	ENSP00000472036:p.Leu9Val						p.L9V	NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN			1	25	-			Error:Variant_position_missing_in_C9JN71_after_alignment						Missense_Mutation	SNP	ENST00000602107.1	37	c.25C>G		.	.	.	.	.	.	.	.	.	.	G	6.937	0.542595	0.13250	.	.	ENSG00000232371	ENST00000440730	.	.	.	0.669	0.669	0.17918	.	.	.	.	.	T	0.43322	0.1242	.	.	.	.	.	.	.	.	.	.	.	.	T	0.53107	-0.8485	3	0.30854	T	0.27	.	.	.	.	.	.	.	.	V	9	.	ENSP00000408518:L9V	L	-	1	2	ZNF878	12028103	0.006000	0.16342	0.049000	0.19019	0.266000	0.26442	1.009000	0.29886	0.650000	0.30769	0.313000	0.20887	CTG		0.562	ZNF878-201	KNOWN	basic	protein_coding	protein_coding			NM_001080404		4	4	0	0	0	0.014758	0	4	4		
NANOS3	342977	broad.mit.edu	37	19	13988397	13988397	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:13988397G>A	ENST00000397555.2	+	2	278	c.278G>A	c.(277-279)tGt>tAt	p.C93Y	MIR181C_ENST00000384881.1_RNA|MIR181D_ENST00000384853.1_RNA|NANOS3_ENST00000591727.1_Intron|NANOS3_ENST00000339133.5_Missense_Mutation_p.C112Y	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	nanos homolog 3 (Drosophila)	93					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GACTACGTGTGTCCCCAGTGC	0.647																																						uc002mxj.3		NaN																	0				skin(1)	1						c.(334-336)TGT>TAT		nanos homolog 3							32.0	38.0	36.0					19																	13988397		2160	4273	6433	SO:0001583	missense	342977				anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding	g.chr19:13988397G>A	BM702754	CCDS42511.1	19p13.13	2003-12-01				ENSG00000187556			22048	protein-coding gene	gene with protein product		608229					Standard	NM_001098622		Approved	NANOS1L, NOS3	uc002mxj.4	P60323		ENST00000397555.2:c.278G>A	19.37:g.13988397G>A	ENSP00000380687:p.Cys93Tyr						p.C112Y	NM_001098622	NP_001092092	P60323	NANO3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2e-21)		1	448	+			93			C2HC 2.|Nanos-type.		Q495E5	Missense_Mutation	SNP	ENST00000397555.2	37	c.335G>A		.	.	.	.	.	.	.	.	.	.	G	24.2	4.500805	0.85176	.	.	ENSG00000187556	ENST00000339133;ENST00000397555	D;D	0.84660	-1.88;-1.88	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.92341	0.7570	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93149	0.6548	9	0.87932	D	0	0.8371	15.857	0.78987	0.0:0.0:1.0:0.0	.	112	P60323-2	.	Y	112;93	ENSP00000341992:C112Y;ENSP00000380687:C93Y	ENSP00000341992:C112Y	C	+	2	0	NANOS3	13849397	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	9.020000	0.93667	2.622000	0.88805	0.655000	0.94253	TGT		0.647	NANOS3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			XM_292819		30	27	0	0	0	0.008361	0	30	27		
CCDC105	126402	broad.mit.edu	37	19	15121757	15121757	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:15121757G>A	ENST00000292574.3	+	1	202	c.120G>A	c.(118-120)ggG>ggA	p.G40G	SLC1A6_ENST00000430939.2_5'Flank	NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	40						extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						ATCGCTGCGGGCAGGAGGCGG	0.711																																						uc002nae.2		NaN																	0				ovary(1)	1						c.(118-120)GGG>GGA		coiled-coil domain containing 105							15.0	15.0	15.0					19																	15121757		2173	4269	6442	SO:0001819	synonymous_variant	126402				microtubule cytoskeleton organization	microtubule		g.chr19:15121757G>A	AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.120G>A	19.37:g.15121757G>A						SLC1A6_uc010xod.1_5'Flank	p.G40G	NM_173482	NP_775753	Q8IYK2	CC105_HUMAN			1	219	+			40					Q8N7T5|Q8NDL5	Silent	SNP	ENST00000292574.3	37	c.120G>A	CCDS12322.1																																																																																				0.711	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1		NM_173482		5	12	0	0	0	0.001984	0	5	12		
AKAP8L	26993	broad.mit.edu	37	19	15491178	15491178	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:15491178C>G	ENST00000397410.5	-	14	1826	c.1696G>C	c.(1696-1698)Gcc>Ccc	p.A566P	AKAP8_ENST00000269701.2_5'Flank|AC005785.2_ENST00000597164.2_RNA|AKAP8L_ENST00000595465.2_Missense_Mutation_p.A505P	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	566						cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						TCGTCCAGGGCACCGCCCTCA	0.741																																						uc002naw.1		NaN																	0				ovary(1)	1						c.(1696-1698)GCC>CCC		A kinase (PRKA) anchor protein 8-like							8.0	10.0	9.0					19																	15491178		1990	4120	6110	SO:0001583	missense	26993					cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding	g.chr19:15491178C>G	BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"""neighbor of A kinase anchoring protein 95"""	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.1696G>C	19.37:g.15491178C>G	ENSP00000380557:p.Ala566Pro					AKAP8_uc002nav.2_5'Flank|AKAP8_uc010xog.1_5'Flank|AKAP8L_uc002nax.1_RNA|AKAP8L_uc010xoh.1_Missense_Mutation_p.A505P	p.A566P	NM_014371	NP_055186	Q9ULX6	AKP8L_HUMAN			14	1795	-			566	EEEKEQEEAEGGALDEGAQGEAAGISEGAEGVPAQPPVPPE PA -> RRRRSRRRLRAVPWTRGRRAKRQGFRRAQRACRRS LPCPQSQP (in Ref. 3; AAF86048).				B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Missense_Mutation	SNP	ENST00000397410.5	37	c.1696G>C	CCDS46005.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.397147	0.25205	.	.	ENSG00000011243	ENST00000397410	T	0.48836	0.8	4.14	1.97	0.26223	.	1.125910	0.06654	N	0.763188	T	0.30230	0.0758	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.21999	-1.0229	10	0.29301	T	0.29	-1.4035	4.1553	0.10258	0.0:0.5935:0.1952:0.2113	.	505;566	B4DJ74;Q9ULX6	.;AKP8L_HUMAN	P	566	ENSP00000380557:A566P	ENSP00000380557:A566P	A	-	1	0	AKAP8L	15352178	0.003000	0.15002	0.001000	0.08648	0.161000	0.22273	0.733000	0.26087	0.404000	0.25506	0.561000	0.74099	GCC		0.741	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461301.2		NM_014371		7	7	0	0	0	0.001984	0	7	7		
PIK3R2	5296	broad.mit.edu	37	19	18273235	18273235	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:18273235A>G	ENST00000593731.1	+	9	1588	c.1028A>G	c.(1027-1029)aAa>aGa	p.K343R	PIK3R2_ENST00000222254.8_Missense_Mutation_p.K343R			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	343	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	GTGAACGAGAAACTCCGGGAC	0.627																																						uc002nia.1		NaN																	0				lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)	6						c.(1027-1029)AAA>AGA		phosphoinositide-3-kinase, regulatory subunit 2							51.0	42.0	45.0					19																	18273235		2203	4300	6503	SO:0001583	missense	5296				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding	g.chr19:18273235A>G		CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"""SH2 domain containing"""	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.1028A>G	19.37:g.18273235A>G	ENSP00000471914:p.Lys343Arg					PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA	p.K343R	NM_005027	NP_005018	O00459	P85B_HUMAN			9	1540	+			343			SH2 1.		Q5EAT5|Q9UPH9	Missense_Mutation	SNP	ENST00000593731.1	37	c.1028A>G	CCDS12371.1	.	.	.	.	.	.	.	.	.	.	A	15.88	2.962211	0.53400	.	.	ENSG00000105647	ENST00000222254	D	0.88431	-2.38	4.32	3.3	0.37823	SH2 motif (4);	0.050915	0.85682	N	0.000000	T	0.81550	0.4846	L	0.31845	0.965	0.48040	D	0.999574	B	0.25521	0.128	B	0.24269	0.052	T	0.75695	-0.3228	10	0.54805	T	0.06	-11.553	8.4194	0.32692	0.9029:0.0:0.0971:0.0	.	343	O00459	P85B_HUMAN	R	343	ENSP00000222254:K343R	ENSP00000222254:K343R	K	+	2	0	PIK3R2	18134235	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	5.011000	0.64011	0.657000	0.30906	0.402000	0.26972	AAA		0.627	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000466386.2		NM_005027		17	38	0	0	0	0.007413	0	17	38		
ZNF682	91120	broad.mit.edu	37	19	20117916	20117916	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:20117916C>A	ENST00000397165.2	-	4	555	c.395G>T	c.(394-396)gGa>gTa	p.G132V	ZNF682_ENST00000358523.5_Missense_Mutation_p.G100V|ZNF682_ENST00000595736.1_Missense_Mutation_p.G56V|ZNF682_ENST00000397162.1_Missense_Mutation_p.G100V|ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000597972.1_Missense_Mutation_p.G138V|ZNF682_ENST00000593468.1_3'UTR	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	132					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(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						TTGGTTAAGTCCATTATAAAT	0.323																																						uc002noq.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(394-396)GGA>GTA		zinc finger protein 682 isoform 1							110.0	102.0	104.0					19																	20117916		1844	4102	5946	SO:0001583	missense	91120				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20117916C>A	AC006539	CCDS42533.1, CCDS42534.1	19p12	2014-02-13			ENSG00000197124	ENSG00000197124		"""Zinc fingers, C2H2-type"", ""-"""	28857	protein-coding gene	gene with protein product							Standard	NM_033196		Approved	BC39498_3	uc002noq.3	O95780	OTTHUMG00000182650	ENST00000397165.2:c.395G>T	19.37:g.20117916C>A	ENSP00000380351:p.Gly132Val					ZNF682_uc002noo.2_Missense_Mutation_p.G100V|ZNF682_uc002nop.2_Missense_Mutation_p.G100V|ZNF682_uc010eck.2_Missense_Mutation_p.G56V	p.G132V	NM_033196	NP_149973	O95780	ZN682_HUMAN			4	518	-			132					B3KU64|E9PFJ5|Q96JV9	Missense_Mutation	SNP	ENST00000397165.2	37	c.395G>T	CCDS42533.1	.	.	.	.	.	.	.	.	.	.	C	9.096	1.002992	0.19121	.	.	ENSG00000197124	ENST00000397165;ENST00000397162;ENST00000358523	T;T;T	0.04970	3.59;3.52;3.52	0.468	0.468	0.16732	.	.	.	.	.	T	0.06645	0.0170	M	0.62154	1.92	0.19575	N	0.999966	P	0.42010	0.768	B	0.37692	0.256	T	0.29941	-0.9995	9	0.44086	T	0.13	.	3.4435	0.07472	0.4504:0.5495:1.0E-4:0.0	.	132	O95780	ZN682_HUMAN	V	132;100;100	ENSP00000380351:G132V;ENSP00000380348:G100V;ENSP00000351324:G100V	ENSP00000351324:G100V	G	-	2	0	ZNF682	19978916	0.000000	0.05858	0.005000	0.12908	0.005000	0.04900	-0.354000	0.07681	0.488000	0.27723	0.491000	0.48974	GGA		0.323	ZNF682-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462888.1		NM_033196		28	43	1	0	2.4375e-19	0.007291	2.92816e-19	28	43		
KIAA0355	9710	broad.mit.edu	37	19	34832392	34832392	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:34832392C>A	ENST00000299505.6	+	10	2426	c.1553C>A	c.(1552-1554)gCt>gAt	p.A518D		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	518										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					GGCAACCAGGCTGACCTGCCT	0.433																																						uc002nvd.3		NaN																	0				ovary(1)	1						c.(1552-1554)GCT>GAT		hypothetical protein LOC9710							79.0	81.0	80.0					19																	34832392		2203	4300	6503	SO:0001583	missense	9710							g.chr19:34832392C>A		CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.1553C>A	19.37:g.34832392C>A	ENSP00000299505:p.Ala518Asp						p.A518D	NM_014686	NP_055501	O15063	K0355_HUMAN			10	2412	+	Esophageal squamous(110;0.162)		518					Q2M3W4	Missense_Mutation	SNP	ENST00000299505.6	37	c.1553C>A	CCDS12436.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.780309	0.49891	.	.	ENSG00000166398	ENST00000299505	T	0.46451	0.87	5.28	2.69	0.31865	.	0.453747	0.24165	N	0.040949	T	0.19644	0.0472	N	0.08118	0	0.32969	D	0.52208	B	0.29037	0.231	B	0.30646	0.118	T	0.15122	-1.0448	10	0.87932	D	0	-1.0333	2.806	0.05427	0.0:0.4699:0.2841:0.246	.	518	O15063	K0355_HUMAN	D	518	ENSP00000299505:A518D	ENSP00000299505:A518D	A	+	2	0	KIAA0355	39524232	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.198000	0.42705	1.299000	0.44798	0.655000	0.94253	GCT		0.433	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4		NM_014686		55	57	1	0	1.27862e-28	0.01441	1.66973e-28	55	57		
PRODH2	58510	broad.mit.edu	37	19	36303753	36303753	+	Silent	SNP	C	C	G	rs142806923	byFrequency	TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:36303753C>G	ENST00000301175.3	-	2	200	c.183G>C	c.(181-183)ctG>ctC	p.L61L		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	61					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCTCTGGAGGCAGCAAGTTCA	0.587													C|||	2	0.000399361	0.0	0.0014	5008	,	,		19037	0.0		0.001	False		,,,				2504	0.0					uc002obx.1		NaN																	0				ovary(2)	2						c.(181-183)CTG>CTC		kidney and liver proline oxidase 1		C		0,4406		0,0,2203	27.0	25.0	26.0		183	-2.7	0.0	19	dbSNP_134	26	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	PRODH2	NM_021232.1		0,2,6501	GG,GC,CC		0.0233,0.0,0.0154		61/537	36303753	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	58510				glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity	g.chr19:36303753C>G	U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799			17325	protein-coding gene	gene with protein product							Standard	NM_021232		Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.183G>C	19.37:g.36303753C>G							p.L61L	NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		2	201	-	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		61						Silent	SNP	ENST00000301175.3	37	c.183G>C	CCDS12478.1																																																																																				0.587	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452552.2		NM_021232		19	20	0	0	0	0.006122	0	19	20		
APLP1	333	broad.mit.edu	37	19	36365745	36365745	+	Missense_Mutation	SNP	G	G	A	rs575307529		TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:36365745G>A	ENST00000221891.4	+	10	1510	c.1318G>A	c.(1318-1320)Gag>Aag	p.E440K	APLP1_ENST00000586861.1_Missense_Mutation_p.E434K|APLP1_ENST00000589298.2_3'UTR|APLP1_ENST00000537454.2_Missense_Mutation_p.E401K	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	440	Heparin-binding. {ECO:0000250}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CGTGGATCCCGAGAAGGCACA	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		18015	0.0		0.0	False		,,,				2504	0.001					uc002oce.2		NaN																	0				ovary(2)	2						c.(1318-1320)GAG>AAG		amyloid precursor-like protein 1 isoform 2							55.0	50.0	51.0					19																	36365745		2203	4300	6503	SO:0001583	missense	333				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding	g.chr19:36365745G>A	U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"""amyloid-like protein 1"", ""amyloid precursor-like protein 1"""	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.1318G>A	19.37:g.36365745G>A	ENSP00000221891:p.Glu440Lys					APLP1_uc010xsz.1_Missense_Mutation_p.E401K|APLP1_uc002ocf.2_Missense_Mutation_p.E440K|APLP1_uc002ocg.2_Missense_Mutation_p.E343K|APLP1_uc010xta.1_Missense_Mutation_p.E434K	p.E440K	NM_005166	NP_005157	P51693	APLP1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		10	1456	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		440			Extracellular (Potential).|Heparin-binding (By similarity).		O00113|Q96A92	Missense_Mutation	SNP	ENST00000221891.4	37	c.1318G>A	CCDS32997.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.119705	0.37436	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	T;T	0.50813	0.73;0.73	4.72	4.72	0.59763	Amyloidogenic glycoprotein, E2 domain (2);	0.278577	0.25622	N	0.029408	T	0.38401	0.1039	L	0.31845	0.965	0.46609	D	0.999128	P;P;P;P	0.41366	0.633;0.504;0.702;0.747	B;B;B;B	0.40677	0.102;0.119;0.228;0.337	T	0.12785	-1.0534	10	0.18276	T	0.48	-11.2279	15.1758	0.72910	0.0:0.0:1.0:0.0	.	434;401;440;440	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	K	401;440	ENSP00000441501:E401K;ENSP00000221891:E440K	ENSP00000221891:E440K	E	+	1	0	APLP1	41057585	1.000000	0.71417	0.975000	0.42487	0.322000	0.28314	6.357000	0.73051	2.171000	0.68590	0.555000	0.69702	GAG		0.642	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1		NM_001024807		25	26	0	0	0	0.005443	0	25	26		
FAM98C	147965	broad.mit.edu	37	19	38896273	38896273	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:38896273G>C	ENST00000252530.5	+	6	767	c.748G>C	c.(748-750)Gag>Cag	p.E250Q	FAM98C_ENST00000343358.7_Missense_Mutation_p.E224Q|FAM98C_ENST00000588262.1_Intron	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	250										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGACCGGGCAGAGGTGTGGTG	0.607																																						uc002oin.1		NaN																	0				skin(1)	1						c.(748-750)GAG>CAG		hypothetical protein LOC147965							36.0	39.0	38.0					19																	38896273		2149	4254	6403	SO:0001583	missense	147965							g.chr19:38896273G>C		CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.748G>C	19.37:g.38896273G>C	ENSP00000252530:p.Glu250Gln					FAM98C_uc002oio.1_Missense_Mutation_p.E224Q|FAM98C_uc010xtz.1_Intron	p.E250Q	NM_174905	NP_777565	Q17RN3	FA98C_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		6	767	+	all_cancers(60;3.95e-06)		250					A6NMW3|Q66K45	Missense_Mutation	SNP	ENST00000252530.5	37	c.748G>C	CCDS42562.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.175826	0.38413	.	.	ENSG00000130244	ENST00000252530;ENST00000343358	T;T	0.41758	0.99;0.99	4.22	0.475	0.16774	.	0.191072	0.25555	N	0.029874	T	0.23289	0.0563	L	0.31926	0.97	0.31626	N	0.649681	P;B	0.38597	0.639;0.31	B;B	0.31686	0.134;0.084	T	0.20009	-1.0288	10	0.44086	T	0.13	-16.9515	6.1475	0.20293	0.1104:0.3783:0.5113:0.0	.	224;250	Q17RN3-2;Q17RN3	.;FA98C_HUMAN	Q	250;224	ENSP00000252530:E250Q;ENSP00000340348:E224Q	ENSP00000252530:E250Q	E	+	1	0	FAM98C	43588113	0.976000	0.34144	0.998000	0.56505	0.937000	0.57800	0.185000	0.16958	0.402000	0.25451	0.558000	0.71614	GAG		0.607	FAM98C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459222.1		NM_174905		23	36	0	0	0	0.004656	0	23	36		
LRFN1	57622	broad.mit.edu	37	19	39804639	39804639	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:39804639C>A	ENST00000248668.4	-	1	1337	c.1338G>T	c.(1336-1338)agG>agT	p.R446S	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	446	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CGGGCACAGGCCTCTGGGCTG	0.647																																						uc002okw.2		NaN																	0				ovary(2)	2						c.(1336-1338)AGG>AGT		leucine rich repeat and fibronectin type III							49.0	56.0	54.0					19																	39804639		2074	4231	6305	SO:0001583	missense	57622					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane		g.chr19:39804639C>A	BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.1338G>T	19.37:g.39804639C>A	ENSP00000248668:p.Arg446Ser						p.R446S	NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		1	1338	-	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		446			Fibronectin type-III.|Extracellular (Potential).		Q8TBS9	Missense_Mutation	SNP	ENST00000248668.4	37	c.1338G>T	CCDS46071.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.789728	0.31685	.	.	ENSG00000128011	ENST00000248668	T	0.56611	0.45	4.53	-0.0487	0.13837	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.49916	D	0.000136	T	0.39145	0.1067	L	0.48877	1.53	0.48511	D	0.999663	B	0.29188	0.236	B	0.33960	0.173	T	0.05767	-1.0865	10	0.30078	T	0.28	.	4.3142	0.10984	0.0:0.3969:0.3222:0.2809	.	446	Q9P244	LRFN1_HUMAN	S	446	ENSP00000248668:R446S	ENSP00000248668:R446S	R	-	3	2	LRFN1	44496479	0.971000	0.33674	0.973000	0.42090	0.782000	0.44232	0.105000	0.15333	-0.056000	0.13221	-0.176000	0.13171	AGG		0.647	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463835.1		NM_020862		16	39	1	0	2.32078e-09	0.003163	2.49619e-09	16	39		
CEACAM4	1089	broad.mit.edu	37	19	42132180	42132180	+	Silent	SNP	T	T	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:42132180T>A	ENST00000221954.2	-	2	329	c.219A>T	c.(217-219)gcA>gcT	p.A73A	CEACAM4_ENST00000600925.1_Silent_p.A73A	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	73	Ig-like V-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						GGCTCCCTTCTGCCGTTTTCC	0.493																																						uc002orh.1		NaN																	0					0						c.(217-219)GCA>GCT		carcinoembryonic antigen-related cell adhesion							130.0	128.0	128.0					19																	42132180		2203	4300	6503	SO:0001819	synonymous_variant	1089					integral to plasma membrane|membrane fraction		g.chr19:42132180T>A	D90276	CCDS33033.1	19q13.2	2013-01-11			ENSG00000105352	ENSG00000105352		"""Immunoglobulin superfamily / V-set domain containing"""	1816	protein-coding gene	gene with protein product				CGM7		2050678	Standard	XM_005258434		Approved		uc002orh.1	O75871	OTTHUMG00000151065	ENST00000221954.2:c.219A>T	19.37:g.42132180T>A						CEACAM4_uc010xwd.1_Silent_p.A73A	p.A73A	NM_001817	NP_001808	O75871	CEAM4_HUMAN			2	330	-			73			Extracellular (Potential).|Ig-like V-type.		Q03715|Q7LDZ7	Silent	SNP	ENST00000221954.2	37	c.219A>T	CCDS33033.1																																																																																				0.493	CEACAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321148.1		NM_001817		87	54	0	0	0	0.01441	0	87	54		
ZNF225	7768	broad.mit.edu	37	19	44636769	44636769	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:44636769A>T	ENST00000262894.6	+	5	2282	c.2002A>T	c.(2002-2004)Aaa>Taa	p.K668*	ZNF225_ENST00000592780.1_3'UTR|ZNF225_ENST00000590612.1_Nonsense_Mutation_p.K668*	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	668					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)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				TTCATGCCTTAAAGACCAACA	0.443																																						uc002oyj.1		NaN																	0					0						c.(2002-2004)AAA>TAA		zinc finger protein 225							53.0	53.0	53.0					19																	44636769		2189	4297	6486	SO:0001587	stop_gained	7768				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44636769A>T	AF187991	CCDS46100.1	19q13.31	2013-01-08				ENSG00000256294		"""Zinc fingers, C2H2-type"", ""-"""	13018	protein-coding gene	gene with protein product							Standard	NM_013362		Approved		uc002oyj.1	Q9UK10		ENST00000262894.6:c.2002A>T	19.37:g.44636769A>T	ENSP00000262894:p.Lys668*					ZNF225_uc010eje.1_Nonsense_Mutation_p.K585*|ZNF225_uc010ejf.1_Nonsense_Mutation_p.K668*	p.K668*	NM_013362	NP_037494	Q9UK10	ZN225_HUMAN			5	2245	+		Prostate(69;0.0352)|all_neural(266;0.202)	668			C2H2-type 18; degenerate.		A8K8S2|Q53F12|Q9NS46|Q9UID8	Nonsense_Mutation	SNP	ENST00000262894.6	37	c.2002A>T	CCDS46100.1	.	.	.	.	.	.	.	.	.	.	A	33	5.209105	0.95069	.	.	ENSG00000256294	ENST00000262894;ENST00000544184	.	.	.	2.4	1.29	0.21616	.	.	.	.	.	.	.	.	.	.	.	0.39757	D	0.971973	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	7.4775	0.27385	0.7594:0.2406:0.0:0.0	.	.	.	.	X	668;632	.	ENSP00000262894:K668X	K	+	1	0	ZNF225	49328609	0.000000	0.05858	0.002000	0.10522	0.086000	0.17979	-4.310000	0.00255	0.161000	0.19458	0.397000	0.26171	AAA		0.443	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460581.1				23	9	0	0	0	0.016522	0	23	9		
ERCC2	2068	broad.mit.edu	37	19	45860917	45860917	+	Silent	SNP	C	C	G	rs148469762	byFrequency	TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:45860917C>G	ENST00000391945.4	-	13	1355	c.1278G>C	c.(1276-1278)ccG>ccC	p.P426P	ERCC2_ENST00000391944.3_Silent_p.P348P	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	426					7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		TGGCAATGGTCGGGGTTCTGT	0.642			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc002pbj.2		NaN	yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	Mis|N|F|S	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"""			E		skin basal cell|skin squamous cell|melanoma			0				lung(2)|pancreas(1)	3						c.(1276-1278)CCG>CCC	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							130.0	122.0	125.0					19																	45860917		2203	4300	6503	SO:0001819	synonymous_variant	2068	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	g.chr19:45860917C>G		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"""General transcription factor IIH complex subunits"""	3434	protein-coding gene	gene with protein product	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 protein"", ""TFIIH basal transcription factor complex helicase XPB subunit"""	126340	"""xeroderma pigmentosum complementary group D"", ""excision repair cross-complementing rodent repair deficiency, complementation group 2"""	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.1278G>C	19.37:g.45860917C>G						ERCC2_uc002pbh.2_5'UTR|ERCC2_uc002pbi.2_Silent_p.P119P|ERCC2_uc010ejz.2_Silent_p.P348P|ERCC2_uc002pbk.2_Silent_p.P402P	p.P426P	NM_000400	NP_000391	P18074	ERCC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	13	1325	-		Ovarian(192;0.0728)|all_neural(266;0.112)	426					Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Silent	SNP	ENST00000391945.4	37	c.1278G>C	CCDS33049.1																																																																																				0.642	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2		NM_000400		12	52	0	0	0	0.013537	0	12	52		
TMEM143	55260	broad.mit.edu	37	19	48845927	48845927	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:48845927C>G	ENST00000293261.3	-	6	1151	c.835G>C	c.(835-837)Gcc>Ccc	p.A279P	TMEM143_ENST00000541566.1_Missense_Mutation_p.A169P|TMEM143_ENST00000436660.2_Missense_Mutation_p.A214P|TMEM143_ENST00000377431.2_Missense_Mutation_p.A179P|TMEM143_ENST00000435956.3_Missense_Mutation_p.A244P	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	279					hematopoietic progenitor cell differentiation (GO:0002244)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.A279T(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		TTGAGCAGGGCGCGCTGCAGG	0.642																																						uc002pix.1		NaN																	2	Substitution - Missense(2)		lung(2)		0						c.(835-837)GCC>CCC		transmembrane protein 143							63.0	53.0	56.0					19																	48845927		2203	4300	6503	SO:0001583	missense	55260					integral to membrane|mitochondrion		g.chr19:48845927C>G	AK129801	CCDS12716.1	19q13.32	2008-02-05				ENSG00000161558			25603	protein-coding gene	gene with protein product						12975309	Standard	NM_018273		Approved	FLJ10922	uc002pix.1	Q96AN5		ENST00000293261.3:c.835G>C	19.37:g.48845927C>G	ENSP00000293261:p.Ala279Pro					TMEM143_uc002piw.1_Intron|TMEM143_uc002piy.1_Missense_Mutation_p.A244P|TMEM143_uc010xzn.1_Missense_Mutation_p.A214P|TMEM143_uc010elw.1_Missense_Mutation_p.A179P|TMEM143_uc010xzo.1_Missense_Mutation_p.A69P	p.A279P	NM_018273	NP_060743	Q96AN5	TM143_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)	6	844	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)	279					A8K656|Q6UXY4|Q9NV49	Missense_Mutation	SNP	ENST00000293261.3	37	c.835G>C	CCDS12716.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.335692	0.60853	.	.	ENSG00000161558	ENST00000293261;ENST00000377431;ENST00000435956;ENST00000436660;ENST00000541566	T;T;T	0.49720	0.77;0.78;0.78	4.63	2.44	0.29823	.	0.541730	0.17293	N	0.179580	T	0.55065	0.1897	L	0.47716	1.5	0.29284	N	0.869799	B;D;D;D	0.76494	0.099;0.998;0.999;0.998	B;D;D;D	0.72338	0.056;0.936;0.977;0.943	T	0.48490	-0.9031	10	0.52906	T	0.07	-5.5896	5.9279	0.19122	0.0:0.6663:0.1589:0.1748	.	214;179;244;279	B4DPF8;Q96AN5-2;B4DMT0;Q96AN5	.;.;.;TM143_HUMAN	P	279;179;244;214;169	ENSP00000293261:A279P;ENSP00000397038:A244P;ENSP00000444275:A169P	ENSP00000293261:A279P	A	-	1	0	TMEM143	53537739	0.758000	0.28405	0.770000	0.31555	0.994000	0.84299	1.206000	0.32321	0.478000	0.27488	0.456000	0.33151	GCC		0.642	TMEM143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465622.1		NM_018273		35	24	0	0	0	0.005524	0	35	24		
TMEM143	55260	broad.mit.edu	37	19	48846055	48846055	+	Missense_Mutation	SNP	T	T	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:48846055T>G	ENST00000293261.3	-	6	1023	c.707A>C	c.(706-708)aAg>aCg	p.K236T	TMEM143_ENST00000541566.1_Missense_Mutation_p.K126T|TMEM143_ENST00000436660.2_Missense_Mutation_p.K171T|TMEM143_ENST00000377431.2_Missense_Mutation_p.K136T|TMEM143_ENST00000435956.3_Missense_Mutation_p.K201T	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	236					hematopoietic progenitor cell differentiation (GO:0002244)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		GACCACCCGCTTAAAGTATCT	0.627																																						uc002pix.1		NaN																	0					0						c.(706-708)AAG>ACG		transmembrane protein 143							26.0	23.0	24.0					19																	48846055		2203	4300	6503	SO:0001583	missense	55260					integral to membrane|mitochondrion		g.chr19:48846055T>G	AK129801	CCDS12716.1	19q13.32	2008-02-05				ENSG00000161558			25603	protein-coding gene	gene with protein product						12975309	Standard	NM_018273		Approved	FLJ10922	uc002pix.1	Q96AN5		ENST00000293261.3:c.707A>C	19.37:g.48846055T>G	ENSP00000293261:p.Lys236Thr					TMEM143_uc002piw.1_Intron|TMEM143_uc002piy.1_Missense_Mutation_p.K201T|TMEM143_uc010xzn.1_Missense_Mutation_p.K171T|TMEM143_uc010elw.1_Missense_Mutation_p.K136T|TMEM143_uc010xzo.1_Missense_Mutation_p.K26T|TMEM143_uc010xzp.1_3'UTR|TMEM143_uc010xzq.1_3'UTR	p.K236T	NM_018273	NP_060743	Q96AN5	TM143_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)	6	716	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)	236					A8K656|Q6UXY4|Q9NV49	Missense_Mutation	SNP	ENST00000293261.3	37	c.707A>C	CCDS12716.1	.	.	.	.	.	.	.	.	.	.	T	18.12	3.553335	0.65425	.	.	ENSG00000161558	ENST00000293261;ENST00000377431;ENST00000435956;ENST00000436660;ENST00000541566	T;T;T	0.53423	0.62;0.72;0.71	4.49	4.49	0.54785	.	0.095691	0.42420	D	0.000719	T	0.62780	0.2456	L	0.53249	1.67	0.37257	D	0.906813	D;P;D;D	0.76494	0.999;0.663;0.998;0.999	D;B;D;D	0.83275	0.996;0.306;0.966;0.983	T	0.70241	-0.4926	10	0.66056	D	0.02	-29.1665	13.0964	0.59195	0.0:0.0:0.0:1.0	.	171;136;201;236	B4DPF8;Q96AN5-2;B4DMT0;Q96AN5	.;.;.;TM143_HUMAN	T	236;136;201;171;126	ENSP00000293261:K236T;ENSP00000397038:K201T;ENSP00000444275:K126T	ENSP00000293261:K236T	K	-	2	0	TMEM143	53537867	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	4.710000	0.61873	1.795000	0.52594	0.379000	0.24179	AAG		0.627	TMEM143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465622.1		NM_018273		26	16	0	0	0	0.009535	0	26	16		
KCNJ14	3770	broad.mit.edu	37	19	48965180	48965180	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:48965180G>A	ENST00000391884.1	+	1	675	c.199G>A	c.(199-201)Ggt>Agt	p.G67S	KCNJ14_ENST00000342291.2_Missense_Mutation_p.G67S			Q9UNX9	KCJ14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	67					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	Yohimbine(DB01392)	CGTAAACCTGGGTGGCCAGGG	0.677																																					NSCLC(148;170 3504 35216)	uc002pje.1		NaN																	0				skin(1)	1						c.(199-201)GGT>AGT		potassium inwardly-rectifying channel J14							53.0	34.0	40.0					19																	48965180		2202	4299	6501	SO:0001583	missense	3770					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr19:48965180G>A	BC042033	CCDS12721.1	19q13	2011-07-05				ENSG00000182324		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6260	protein-coding gene	gene with protein product		603953				9592090, 10723734, 16382105	Standard	NM_013348		Approved	Kir2.4, IRK4	uc002pje.2	Q9UNX9		ENST00000391884.1:c.199G>A	19.37:g.48965180G>A	ENSP00000375756:p.Gly67Ser					KCNJ14_uc002pjf.1_Missense_Mutation_p.G67S	p.G67S	NM_013348	NP_037480	Q9UNX9	IRK14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	2	604	+		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	67			Cytoplasmic (By similarity).			Missense_Mutation	SNP	ENST00000391884.1	37	c.199G>A	CCDS12721.1	.	.	.	.	.	.	.	.	.	.	G	9.100	1.003997	0.19199	.	.	ENSG00000182324	ENST00000342291;ENST00000391884	D;D	0.93366	-3.21;-3.21	4.16	4.16	0.48862	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.055921	0.64402	D	0.000002	T	0.75332	0.3835	N	0.00855	-1.145	0.36582	D	0.873578	B	0.18013	0.025	B	0.20577	0.03	T	0.74100	-0.3774	10	0.07644	T	0.81	.	8.0443	0.30540	0.1093:0.0:0.8907:0.0	.	67	Q9UNX9	IRK14_HUMAN	S	67	ENSP00000341479:G67S;ENSP00000375756:G67S	ENSP00000341479:G67S	G	+	1	0	KCNJ14	53656992	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.993000	0.49425	2.323000	0.78572	0.591000	0.81541	GGT		0.677	KCNJ14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466127.1		NM_013348		17	11	0	0	0	0.00499	0	17	11		
TULP2	7288	broad.mit.edu	37	19	49385331	49385331	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:49385331G>A	ENST00000221399.3	-	12	1549	c.1405C>T	c.(1405-1407)Cgg>Tgg	p.R469W		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	469					visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	protein complex binding (GO:0032403)			NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		ACCGAAGCCCGAGTGACTCGA	0.547																																						uc002pkz.2		NaN																	0				ovary(1)|kidney(1)|skin(1)	3						c.(1405-1407)CGG>TGG		tubby like protein 2							149.0	120.0	130.0					19																	49385331		2203	4300	6503	SO:0001583	missense	7288				visual perception	cytoplasm|extracellular region		g.chr19:49385331G>A	U82469	CCDS12739.1	19q13.1	2009-08-06			ENSG00000104804	ENSG00000104804			12424	protein-coding gene	gene with protein product	"""cancer/testis antigen 65"""	602309				9096357	Standard	NM_003323		Approved	TUBL2, CT65	uc002pkz.2	O00295	OTTHUMG00000164406	ENST00000221399.3:c.1405C>T	19.37:g.49385331G>A	ENSP00000221399:p.Arg469Trp						p.R469W	NM_003323	NP_003314	O00295	TULP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)	12	1556	-		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	469					Q8TC50	Missense_Mutation	SNP	ENST00000221399.3	37	c.1405C>T	CCDS12739.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.361235	0.41801	.	.	ENSG00000104804	ENST00000221399;ENST00000522341	D;D	0.85339	-1.97;-1.97	4.62	-0.382	0.12481	Tubby, C-terminal (4);Tubby, C-terminal, conserved site (1);	0.134749	0.51477	D	0.000087	D	0.87281	0.6138	L	0.48642	1.525	0.21802	N	0.999534	D	0.89917	1.0	D	0.65443	0.935	T	0.81385	-0.0957	10	0.87932	D	0	-9.5908	12.985	0.58586	0.0:0.0:0.4514:0.5486	.	469	O00295	TULP2_HUMAN	W	469;18	ENSP00000221399:R469W;ENSP00000429131:R18W	ENSP00000221399:R469W	R	-	1	2	TULP2	54077143	0.992000	0.36948	0.000000	0.03702	0.001000	0.01503	3.400000	0.52594	0.250000	0.21479	-0.158000	0.13435	CGG		0.547	TULP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378633.1		NM_003323		16	81	0	0	0	0.006122	0	16	81		
TEAD2	8463	broad.mit.edu	37	19	49863219	49863219	+	Silent	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:49863219G>T	ENST00000311227.2	-	2	204	c.114C>A	c.(112-114)ggC>ggA	p.G38G	TEAD2_ENST00000601519.1_Silent_p.G38G|TEAD2_ENST00000593945.1_Silent_p.G38G|TEAD2_ENST00000377214.4_Silent_p.G38G|AC010524.4_ENST00000596488.1_RNA|TEAD2_ENST00000539846.1_Intron|TEAD2_ENST00000598397.1_5'Flank|DKKL1_ENST00000594268.1_5'Flank|TEAD2_ENST00000598810.1_Silent_p.G38G	NM_001256659.1|NM_003598.1	NP_001243588.1|NP_003589.1	Q15562	TEAD2_HUMAN	TEA domain family member 2	38					gene expression (GO:0010467)|hippo signaling (GO:0035329)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		CTGCATCCGGGCCCCCGTCAC	0.677																																						uc002pnj.2		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(112-114)GGC>GGA		TEA domain family member 2							46.0	57.0	53.0					19																	49863219		2203	4300	6503	SO:0001819	synonymous_variant	8463				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:49863219G>T	X94440	CCDS12761.1, CCDS58670.1, CCDS58671.1, CCDS59406.1	19q13.3	2008-07-22							11715	protein-coding gene	gene with protein product		601729				9889009, 8702974	Standard	NM_003598		Approved	TEF-4, ETF, TEF4	uc031rls.1	Q15562		ENST00000311227.2:c.114C>A	19.37:g.49863219G>T						TEAD2_uc002png.2_Silent_p.G38G|TEAD2_uc002pnh.2_Silent_p.G38G|TEAD2_uc002pni.2_Silent_p.G38G|TEAD2_uc010yao.1_Intron|TEAD2_uc010emw.2_Silent_p.G38G	p.G38G	NM_003598	NP_003589	Q15562	TEAD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)	2	205	-		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)	38					B4DTJ6|M0R1T9|Q8NA25|Q96IG3	Silent	SNP	ENST00000311227.2	37	c.114C>A	CCDS12761.1																																																																																				0.677	TEAD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465465.1		NM_003598		74	32	1	0	1.1397e-45	0.01441	1.57347e-45	74	32		
IZUMO2	126123	broad.mit.edu	37	19	50657922	50657922	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:50657922C>T	ENST00000293405.3	-	6	558	c.558G>A	c.(556-558)caG>caA	p.Q186Q		NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN	IZUMO family member 2	186						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						CCAACAGCGCCTGGTTCCTCG	0.622																																						uc002prp.1		NaN																	0					0						c.(556-558)CAG>CAA		hypothetical protein LOC126123 precursor							133.0	152.0	146.0					19																	50657922		2101	4204	6305	SO:0001819	synonymous_variant	126123					integral to membrane		g.chr19:50657922C>T	AY358196	CCDS12792.2	19q13.33	2014-02-17	2010-07-29	2010-07-29	ENSG00000161652	ENSG00000161652		"""-"""	28518	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 41"""	C19orf41		19658160, 22957301	Standard	XM_006723007		Approved	MGC33947, SCRL	uc002prp.1	Q6UXV1	OTTHUMG00000074063	ENST00000293405.3:c.558G>A	19.37:g.50657922C>T							p.Q186Q	NM_152358	NP_689571	Q6UXV1	IZUM2_HUMAN		GBM - Glioblastoma multiforme(134;0.00364)|OV - Ovarian serous cystadenocarcinoma(262;0.0052)	6	645	-		all_neural(266;0.0459)|Ovarian(192;0.0728)	186			Extracellular (Potential).		Q5GRG3|Q5GRG4|Q6ZNM5|Q8NHR8	Silent	SNP	ENST00000293405.3	37	c.558G>A	CCDS12792.2	.	.	.	.	.	.	.	.	.	.	C	1.949	-0.441763	0.04604	.	.	ENSG00000161652	ENST00000377000	.	.	.	3.43	1.26	0.21427	.	.	.	.	.	T	0.39886	0.1095	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36648	-0.9739	5	0.87932	D	0	.	6.0252	0.19650	0.0:0.754:0.0:0.246	.	.	.	.	K	151	.	ENSP00000366199:R151K	R	-	2	0	IZUMO2	55349734	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	0.355000	0.20163	0.446000	0.26666	-0.680000	0.03767	AGG		0.622	IZUMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157232.1		NM_152358		21	78	0	0	0	0.016522	0	21	78		
KLK15	55554	broad.mit.edu	37	19	51329189	51329189	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:51329189G>A	ENST00000598239.1	-	5	664	c.634C>T	c.(634-636)Ccc>Tcc	p.P212S	KLK15_ENST00000326856.4_Missense_Mutation_p.P211S|KLK1_ENST00000301420.2_5'Flank|KLK15_ENST00000596931.1_3'UTR|KLK15_ENST00000416184.1_Missense_Mutation_p.P127S|KLK1_ENST00000448701.2_5'Flank|KLK15_ENST00000301421.2_3'UTR	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	212	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		CAGACCAGGGGTCCCCCAGAG	0.552																																					Pancreas(140;10 2513 7143 9246)	uc002ptl.2		NaN																	0				lung(1)|breast(1)	2						c.(634-636)CCC>TCC		kallikrein-related peptidase 15 isoform 4							55.0	55.0	55.0					19																	51329189		2203	4300	6503	SO:0001583	missense	55554				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51329189G>A	AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"""Kallikreins"""	20453	protein-coding gene	gene with protein product		610601	"""kallikrein 15"""			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.634C>T	19.37:g.51329189G>A	ENSP00000469315:p.Pro212Ser					KLK1_uc002ptk.1_5'Flank|KLK1_uc010ycg.1_5'Flank|KLK15_uc002ptm.2_Missense_Mutation_p.P127S|KLK15_uc002ptn.2_3'UTR|KLK15_uc002pto.2_Missense_Mutation_p.P211S|KLK15_uc010ych.1_RNA|KLK15_uc010yci.1_3'UTR|KLK15_uc010eod.2_RNA	p.P212S	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	5	665	-		all_neural(266;0.057)	212			Peptidase S1.		A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Missense_Mutation	SNP	ENST00000598239.1	37	c.634C>T	CCDS12805.1	.	.	.	.	.	.	.	.	.	.	g	16.26	3.073529	0.55646	.	.	ENSG00000174562	ENST00000326856;ENST00000416184	D	0.98633	-5.04	3.94	3.94	0.45596	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.40469	N	0.001096	D	0.99363	0.9776	H	0.96518	3.835	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.999	D	0.98333	1.0534	10	0.87932	D	0	.	13.8322	0.63389	0.0:0.0:1.0:0.0	.	211;127;212	Q6ISI0;Q9H2R5-4;Q9H2R5	.;.;KLK15_HUMAN	S	212;127	ENSP00000415136:P127S	ENSP00000314783:P212S	P	-	1	0	KLK15	56021001	1.000000	0.71417	0.493000	0.27502	0.265000	0.26407	9.126000	0.94411	2.198000	0.70561	0.174000	0.16983	CCC		0.552	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1		NM_017509		33	19	0	0	0	0.017118	0	33	19		
UBE2S	27338	broad.mit.edu	37	19	55915730	55915730	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:55915730C>A	ENST00000264552.9	-	3	455	c.268G>T	c.(268-270)Gcc>Tcc	p.A90S	UBE2S_ENST00000589978.1_Missense_Mutation_p.R64L|UBE2S_ENST00000592570.1_5'Flank	NM_014501.2	NP_055316.2	Q16763	UBE2S_HUMAN	ubiquitin-conjugating enzyme E2S	90					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cellular protein modification process (GO:0006464)|exit from mitosis (GO:0010458)|free ubiquitin chain polymerization (GO:0010994)|protein K11-linked ubiquitination (GO:0070979)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)	anaphase-promoting complex (GO:0005680)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			lung(1)	1	Breast(117;0.155)		LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.11)		TCGCCATTGGCGCCCACGTTC	0.617																																						uc002qkx.1		NaN																	0					0						c.(268-270)GCC>TCC		ubiquitin-conjugating enzyme E2S							42.0	41.0	41.0					19																	55915730		2203	4295	6498	SO:0001583	missense	27338				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|exit from mitosis|free ubiquitin chain polymerization|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination	anaphase-promoting complex	ATP binding|ubiquitin-protein ligase activity	g.chr19:55915730C>A	BC004236	CCDS33114.1	19q13.43	2008-02-05				ENSG00000108106		"""Ubiquitin-conjugating enzymes E2"""	17895	protein-coding gene	gene with protein product	"""ubiquitin carrier protein"", ""ubiquitin-conjugating enzyme E2-24 kD"", ""ubiquitin-protein ligase"""	610309				1379239	Standard	NM_014501		Approved	E2-EPF	uc002qkx.1	Q16763		ENST00000264552.9:c.268G>T	19.37:g.55915730C>A	ENSP00000264552:p.Ala90Ser						p.A90S	NM_014501	NP_055316	Q16763	UBE2S_HUMAN	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.11)	3	636	-	Breast(117;0.155)		90					Q9BTC1	Missense_Mutation	SNP	ENST00000264552.9	37	c.268G>T	CCDS33114.1	.	.	.	.	.	.	.	.	.	.	C	9.086	1.000540	0.19121	.	.	ENSG00000108106	ENST00000264552	T	0.36878	1.23	5.15	4.09	0.47781	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.260928	0.44483	D	0.000447	T	0.11665	0.0284	N	0.02315	-0.6	0.25776	N	0.984784	B	0.06786	0.001	B	0.15484	0.013	T	0.32719	-0.9896	10	0.02654	T	1	-20.9374	7.277	0.26290	0.0:0.726:0.1812:0.0928	.	90	Q16763	UBE2S_HUMAN	S	90	ENSP00000264552:A90S	ENSP00000264552:A90S	A	-	1	0	UBE2S	60607542	0.699000	0.27786	1.000000	0.80357	0.978000	0.69477	1.098000	0.31000	1.268000	0.44264	0.650000	0.86243	GCC		0.617	UBE2S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453088.1		NM_014501		32	22	1	0	2.37825e-27	0.010771	3.05539e-27	32	22		
ZNF773	374928	broad.mit.edu	37	19	58018245	58018245	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:58018245A>G	ENST00000282292.4	+	4	922	c.782A>G	c.(781-783)gAc>gGc	p.D261G	ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.D260G|ZNF773_ENST00000593916.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	261					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(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		CGTAATGCTGACCTCATTCAA	0.418																																						uc002qox.2		NaN																	0				ovary(1)	1						c.(781-783)GAC>GGC		zinc finger protein 773							101.0	101.0	101.0					19																	58018245		2203	4300	6503	SO:0001583	missense	374928				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58018245A>G	BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439		"""Zinc fingers, C2H2-type"", ""-"""	30487	protein-coding gene	gene with protein product			"""zinc finger protein 419B"""	ZNF419B		12477932	Standard	NM_198542		Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000282292.4:c.782A>G	19.37:g.58018245A>G	ENSP00000282292:p.Asp261Gly					ZNF547_uc002qpm.3_Intron|ZNF773_uc002qoy.2_Missense_Mutation_p.D260G|ZNF773_uc002qoz.2_Intron	p.D261G	NM_198542	NP_940944	Q6PK81	ZN773_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)	4	922	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	261			C2H2-type 3.		Q96DL8	Missense_Mutation	SNP	ENST00000282292.4	37	c.782A>G	CCDS33134.1	.	.	.	.	.	.	.	.	.	.	A	2.180	-0.387921	0.04932	.	.	ENSG00000152439	ENST00000282292	T	0.15139	2.45	1.18	0.112	0.14623	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08044	0.0201	N	0.12611	0.24	0.09310	N	1	B;B	0.31227	0.0;0.314	B;B	0.31547	0.0;0.132	T	0.38972	-0.9636	9	0.25106	T	0.35	.	5.3855	0.16216	0.8229:0.0:0.1771:0.0	.	260;261	Q6PK81-2;Q6PK81	.;ZN773_HUMAN	G	261	ENSP00000282292:D261G	ENSP00000282292:D261G	D	+	2	0	ZNF773	62710057	0.000000	0.05858	0.087000	0.20705	0.941000	0.58515	-2.348000	0.01094	-0.023000	0.13963	0.260000	0.18958	GAC		0.418	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466475.1		NM_198542		24	71	0	0	0	0.01892	0	24	71		
SNTG2	54221	broad.mit.edu	37	2	1168818	1168818	+	Silent	SNP	C	C	T	rs368006432		TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:1168818C>T	ENST00000308624.5	+	8	669	c.540C>T	c.(538-540)tcC>tcT	p.S180S	SNTG2_ENST00000407292.1_Intron|SNTG2_ENST00000467759.1_3'UTR	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	180					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GTGGGGCCTCCTCTCCCCTCT	0.473																																						uc002qwq.2		NaN																	0				ovary(1)|large_intestine(1)|breast(1)	3						c.(538-540)TCC>TCT		syntrophin, gamma 2		C		0,3914		0,0,1957	148.0	153.0	151.0		540	-8.8	0.0	2		151	1,8283		0,1,4141	no	coding-synonymous	SNTG2	NM_018968.3		0,1,6098	TT,TC,CC		0.0121,0.0,0.0082		180/540	1168818	1,12197	1957	4142	6099	SO:0001819	synonymous_variant	54221				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	g.chr2:1168818C>T	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.540C>T	2.37:g.1168818C>T						SNTG2_uc010ewi.2_Intron	p.S180S	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)	8	668	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	180					Q05AH5	Silent	SNP	ENST00000308624.5	37	c.540C>T	CCDS46220.1																																																																																				0.473	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1		NM_018968		113	18	0	0	0	0.01441	0	113	18		
PXDN	7837	broad.mit.edu	37	2	1652481	1652481	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:1652481G>T	ENST00000252804.4	-	17	3121	c.3071C>A	c.(3070-3072)gCg>gAg	p.A1024E		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1024					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CTGGATCTCCGCACCCACGAT	0.622																																						uc002qxa.2		NaN																	0				pancreas(6)|ovary(2)	8						c.(3070-3072)GCG>GAG		peroxidasin precursor							38.0	40.0	40.0					2																	1652481		2189	4272	6461	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1652481G>T	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.3071C>A	2.37:g.1652481G>T	ENSP00000252804:p.Ala1024Glu						p.A1024E	NM_012293	NP_036425	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	3135	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	1024					A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.3071C>A	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.108804	0.56398	.	.	ENSG00000130508	ENST00000252804	T	0.75477	-0.94	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.90126	0.6915	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91789	0.5442	10	0.87932	D	0	-38.3154	19.9324	0.97124	0.0:0.0:1.0:0.0	.	1024	Q92626	PXDN_HUMAN	E	1024	ENSP00000252804:A1024E	ENSP00000252804:A1024E	A	-	2	0	PXDN	1631488	1.000000	0.71417	0.087000	0.20705	0.062000	0.15995	9.759000	0.98931	2.703000	0.92315	0.650000	0.86243	GCG		0.622	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1		XM_056455		11	0	1	0	3.86212e-05	0.008291	3.94747e-05	11	0		
GEN1	348654	broad.mit.edu	37	2	17962140	17962140	+	Missense_Mutation	SNP	A	A	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:17962140A>C	ENST00000381254.2	+	14	1875	c.1661A>C	c.(1660-1662)cAg>cCg	p.Q554P	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Missense_Mutation_p.Q554P	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	554					DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTGGCTATACAGCAAATTAAA	0.363								Homologous recombination																														uc002rct.2		NaN																	0				breast(5)|kidney(1)|central_nervous_system(1)|skin(1)	8						c.(1660-1662)CAG>CCG	Homologous_recombination	Gen homolog 1, endonuclease							73.0	70.0	71.0					2																	17962140		2203	4300	6503	SO:0001583	missense	348654				DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding	g.chr2:17962140A>C	AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"""Holliday junction resolvase"""	612449	"""Gen endonuclease homolog 1 (Drosophila)"""			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.1661A>C	2.37:g.17962140A>C	ENSP00000370653:p.Gln554Pro					SMC6_uc010exo.2_Intron|GEN1_uc010yjs.1_Missense_Mutation_p.Q554P|GEN1_uc002rcu.2_Missense_Mutation_p.Q554P	p.Q554P	NM_182625	NP_872431	Q17RS7	GEN_HUMAN			14	1734	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		554					Q17RS9|Q6ZN37	Missense_Mutation	SNP	ENST00000381254.2	37	c.1661A>C	CCDS1691.1	.	.	.	.	.	.	.	.	.	.	A	12.19	1.865110	0.32977	.	.	ENSG00000178295	ENST00000317402;ENST00000381254;ENST00000536097	T;T	0.27256	1.68;1.68	5.56	5.56	0.83823	.	0.594286	0.15567	N	0.255647	T	0.29914	0.0748	M	0.69823	2.125	0.09310	N	1	P	0.49961	0.93	B	0.41571	0.36	T	0.32929	-0.9888	10	0.38643	T	0.18	-0.5547	11.1838	0.48644	0.8468:0.1532:0.0:0.0	.	554	Q17RS7	GEN_HUMAN	P	554;554;191	ENSP00000318977:Q554P;ENSP00000370653:Q554P	ENSP00000318977:Q554P	Q	+	2	0	GEN1	17825621	0.000000	0.05858	0.098000	0.21074	0.944000	0.59088	0.748000	0.26305	2.250000	0.74265	0.482000	0.46254	CAG		0.363	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241661.2		NM_182625		33	2	0	0	0	0.010818	0	33	2		
BIRC6	57448	broad.mit.edu	37	2	32715215	32715215	+	Missense_Mutation	SNP	A	A	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:32715215A>C	ENST00000421745.2	+	43	8337	c.8203A>C	c.(8203-8205)Aat>Cat	p.N2735H		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2735					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CATGCAGCTTAATTGTAAGTT	0.358																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2		NaN																	0				ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(8203-8205)AAT>CAT		baculoviral IAP repeat-containing 6							141.0	138.0	139.0					2																	32715215		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32715215A>C	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.8203A>C	2.37:g.32715215A>C	ENSP00000393596:p.Asn2735His						p.N2735H	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			43	8337	+	Acute lymphoblastic leukemia(172;0.155)		2735					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.8203A>C	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	A	14.52	2.560106	0.45590	.	.	ENSG00000115760	ENST00000421745	T	0.74315	-0.83	5.15	5.15	0.70609	.	0.216119	0.37577	N	0.002032	T	0.57829	0.2080	N	0.14661	0.345	0.41676	D	0.989268	P	0.50943	0.94	B	0.38562	0.276	T	0.65455	-0.6164	10	0.48119	T	0.1	.	15.2509	0.73545	1.0:0.0:0.0:0.0	.	2735	Q9NR09	BIRC6_HUMAN	H	2735	ENSP00000393596:N2735H	ENSP00000393596:N2735H	N	+	1	0	BIRC6	32568719	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.392000	0.66272	2.066000	0.61787	0.482000	0.46254	AAT		0.358	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3		NM_016252		67	7	0	0	0	0.01441	0	67	7		
OXER1	165140	broad.mit.edu	37	2	42990186	42990186	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:42990186G>A	ENST00000378661.2	-	1	1215	c.1134C>T	c.(1132-1134)ggC>ggT	p.G378G		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	378					G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cAMP biosynthetic process (GO:0030817)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050648)|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050647)|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050646)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						CGCTCACTGGGCCCTGCCGGC	0.662																																						uc002rss.2		NaN																	0				breast(1)	1						c.(1132-1134)GGC>GGT		G-protein coupled receptor TG1019							40.0	45.0	43.0					2																	42990186		2203	4300	6503	SO:0001819	synonymous_variant	165140				regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity	g.chr2:42990186G>A	AB083055	CCDS1810.1	2p22.1	2012-08-10			ENSG00000162881	ENSG00000162881		"""GPCR / Class A : Leukotriene receptors"""	24884	protein-coding gene	gene with protein product	"""5-oxo-ETE acid G-protein-coupled receptor 1"""					12065583, 15001665	Standard	NM_148962		Approved	GPCR, TG1019, GPR170	uc002rss.3	Q8TDS5	OTTHUMG00000128643	ENST00000378661.2:c.1134C>T	2.37:g.42990186G>A							p.G378G	NM_148962	NP_683765	Q8TDS5	OXER1_HUMAN			1	1216	-			378			Cytoplasmic (Potential).		Q86WP7|Q8NGW4	Silent	SNP	ENST00000378661.2	37	c.1134C>T	CCDS1810.1																																																																																				0.662	OXER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250514.1		NM_148962		51	2	0	0	0	0.01441	0	51	2		
MSH2	4436	broad.mit.edu	37	2	47702220	47702220	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:47702220G>T	ENST00000233146.2	+	12	2039	c.1816G>T	c.(1816-1818)Gtc>Ttc	p.V606F	MSH2_ENST00000406134.1_Missense_Mutation_p.V606F|MSH2_ENST00000543555.1_Missense_Mutation_p.V540F	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	606	Interaction with EXO1.				ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGATGCTGTTGTCAGCTTTGC	0.393			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													uc002rvy.1		NaN	yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	D|Mis|N|F|S	mutS homolog 2 (E. coli)			E		colorectal|endometrial|ovarian	colorectal|endometrial|ovarian		4	Whole gene deletion(2)|Unknown(2)	p.?(2)	haematopoietic_and_lymphoid_tissue(3)|prostate(1)	large_intestine(33)|haematopoietic_and_lymphoid_tissue(6)|endometrium(4)|ovary(3)|cervix(2)|central_nervous_system(2)|stomach(1)|small_intestine(1)|breast(1)|skin(1)|prostate(1)	55						c.(1816-1818)GTC>TTC	MMR	mutS homolog 2							130.0	116.0	120.0					2																	47702220		2203	4300	6503	SO:0001583	missense	4436	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	g.chr2:47702220G>T	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"""mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)"", ""mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"""	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.1816G>T	2.37:g.47702220G>T	ENSP00000233146:p.Val606Phe					MSH2_uc010yoh.1_Missense_Mutation_p.V540F|MSH2_uc002rvz.2_Missense_Mutation_p.V606F|MSH2_uc010fbg.2_Missense_Mutation_p.V416F|MSH2_uc010fbi.1_RNA	p.V606F	NM_000251	NP_000242	P43246	MSH2_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		12	1884	+		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	606			Interaction with EXO1.		B4E2Z2|O75488	Missense_Mutation	SNP	ENST00000233146.2	37	c.1816G>T	CCDS1834.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614288	0.87359	.	.	ENSG00000095002	ENST00000233146;ENST00000543555;ENST00000406134;ENST00000419559;ENST00000413880	D;D;D	0.90788	-2.73;-2.73;-2.73	5.61	5.61	0.85477	DNA mismatch repair protein MutS, core (3);	0.051131	0.85682	D	0.000000	D	0.96390	0.8822	M	0.91406	3.205	0.80722	D	1	D;D;D	0.60575	0.988;0.988;0.979	P;P;D	0.67231	0.877;0.877;0.95	D	0.96831	0.9611	10	0.87932	D	0	-15.0136	19.6426	0.95764	0.0:0.0:1.0:0.0	.	540;606;606	B4E2Z2;E9PHA6;P43246	.;.;MSH2_HUMAN	F	606;540;606;606;392	ENSP00000233146:V606F;ENSP00000442697:V540F;ENSP00000384199:V606F	ENSP00000233146:V606F	V	+	1	0	MSH2	47555724	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.211000	0.77933	2.650000	0.89964	0.655000	0.94253	GTC		0.393	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250805.3				44	7	1	0	3.4345e-17	0.011902	4.07296e-17	44	7		
FAM161A	84140	broad.mit.edu	37	2	62081096	62081096	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:62081096G>A	ENST00000405894.3	-	1	182	c.81C>T	c.(79-81)gtC>gtT	p.V27V	FAM161A_ENST00000404929.1_Silent_p.V27V	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	27					cilium assembly (GO:0042384)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CGTACTGGGCGACCCGCGCTC	0.667																																						uc010ypo.1		NaN																	0				large_intestine(2)|ovary(1)	3						c.(79-81)GTC>GTT		hypothetical protein LOC84140							33.0	33.0	33.0					2																	62081096		1568	3582	5150	SO:0001819	synonymous_variant	84140				response to stimulus|visual perception	centrosome		g.chr2:62081096G>A		CCDS42687.2, CCDS56120.1	2p15	2011-03-15			ENSG00000170264	ENSG00000170264			25808	protein-coding gene	gene with protein product		613596	"""retinitis pigmentosa 28 (autosomal recessive)"""	RP28		10507729, 20705278, 20705279	Standard	NM_032180		Approved	FLJ13305	uc002sbm.4	Q3B820	OTTHUMG00000152165	ENST00000405894.3:c.81C>T	2.37:g.62081096G>A						FAM161A_uc002sbm.3_Silent_p.V27V|FAM161A_uc002sbn.3_5'UTR|FAM161A_uc010fcm.1_RNA|FAM161A_uc010fcn.1_5'UTR	p.V27V	NM_032180	NP_115556	Q3B820	F161A_HUMAN			1	183	-			27					B4DJV7|Q9H8R2	Silent	SNP	ENST00000405894.3	37	c.81C>T	CCDS42687.2																																																																																				0.667	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325537.2		NM_032180		18	6	0	0	0	0.006122	0	18	6		
ASTL	431705	broad.mit.edu	37	2	96798412	96798412	+	Silent	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:96798412C>A	ENST00000342380.2	-	6	503	c.504G>T	c.(502-504)ctG>ctT	p.L168L		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						ACGTGGGCGCCAGGGAGACCA	0.652																																						uc010yui.1		NaN																	0					0						c.(502-504)CTG>CTT		astacin-like metalloendopeptidase precursor							73.0	75.0	74.0					2																	96798412		2203	4300	6503	SO:0001819	synonymous_variant	431705				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr2:96798412C>A	AJ537600	CCDS33249.1	2q11.1	2014-07-23	2006-10-10		ENSG00000188886	ENSG00000188886	3.4.24.21		31704	protein-coding gene	gene with protein product	"""sperm acrosomal SLLP1 binding"""	608860	"""astacin-like metalloendopeptidase (M12 family)"""			15087446	Standard	NM_001002036		Approved	ovastacin, SAS1B	uc010yui.2	Q6HA08	OTTHUMG00000155212	ENST00000342380.2:c.504G>T	2.37:g.96798412C>A							p.L168L	NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN			6	504	-			168						Silent	SNP	ENST00000342380.2	37	c.504G>T	CCDS33249.1																																																																																				0.652	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338801.1				46	88	1	0	5.34276e-22	0.01441	6.63362e-22	46	88		
TMEM131	23505	broad.mit.edu	37	2	98422040	98422040	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:98422040C>T	ENST00000186436.5	-	20	2410	c.2182G>A	c.(2182-2184)Gac>Aac	p.D728N		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	728						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GGCTCCAAGTCTTCCTTATTG	0.343																																						uc002syh.3		NaN																	0				ovary(4)|central_nervous_system(2)	6						c.(2182-2184)GAC>AAC		RW1 protein							194.0	206.0	202.0					2																	98422040		1814	4077	5891	SO:0001583	missense	23505					integral to membrane		g.chr2:98422040C>T	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.2182G>A	2.37:g.98422040C>T	ENSP00000186436:p.Asp728Asn						p.D728N	NM_015348	NP_056163	Q92545	TM131_HUMAN			20	2411	-			728						Missense_Mutation	SNP	ENST00000186436.5	37	c.2182G>A	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446151	0.63178	.	.	ENSG00000075568	ENST00000186436	T	0.31510	1.49	5.81	5.81	0.92471	.	0.199219	0.52532	D	0.000063	T	0.30603	0.0770	L	0.36672	1.1	0.80722	D	1	P	0.39665	0.682	B	0.40329	0.326	T	0.01472	-1.1346	10	0.22109	T	0.4	-16.0674	20.0784	0.97758	0.0:1.0:0.0:0.0	.	728	Q92545	TM131_HUMAN	N	728	ENSP00000186436:D728N	ENSP00000186436:D728N	D	-	1	0	TMEM131	97788472	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.487000	0.81328	2.736000	0.93811	0.655000	0.94253	GAC		0.343	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2		XM_371542		75	102	0	0	0	0.01441	0	75	102		
SLC9A4	389015	broad.mit.edu	37	2	103120009	103120009	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:103120009C>A	ENST00000295269.4	+	3	1280	c.823C>A	c.(823-825)Ctt>Att	p.L275I		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	275					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CGTTGTGGGGCTTGGAGGGGT	0.388																																						uc002tbz.3		NaN																	0				skin(2)|central_nervous_system(1)	3						c.(823-825)CTT>ATT		solute carrier family 9 (sodium/hydrogen							337.0	317.0	324.0					2																	103120009		2203	4300	6503	SO:0001583	missense	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103120009C>A		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.823C>A	2.37:g.103120009C>A	ENSP00000295269:p.Leu275Ile						p.L275I	NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN			3	1280	+			275			Helical; Name=H/M6; (Potential).		Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	37	c.823C>A	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	C	0.260	-0.999953	0.02128	.	.	ENSG00000180251	ENST00000295269	T	0.17054	2.3	5.48	-1.59	0.08453	Cation/H+ exchanger (1);	0.864009	0.10422	N	0.676544	T	0.07593	0.0191	N	0.17082	0.46	0.09310	N	1	B	0.10296	0.003	B	0.17722	0.019	T	0.42582	-0.9443	10	0.13853	T	0.58	.	3.3703	0.07219	0.142:0.4568:0.1528:0.2483	.	275	Q6AI14	SL9A4_HUMAN	I	275	ENSP00000295269:L275I	ENSP00000295269:L275I	L	+	1	0	SLC9A4	102486441	0.000000	0.05858	0.002000	0.10522	0.049000	0.14656	-0.321000	0.08018	-0.259000	0.09432	-0.256000	0.11100	CTT		0.388	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1		NM_001011552.3		22	32	1	0	5.35047e-06	0.01892	5.52982e-06	22	32		
PSD4	23550	broad.mit.edu	37	2	113941042	113941042	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:113941042G>C	ENST00000245796.6	+	2	1204	c.1009G>C	c.(1009-1011)Gcc>Ccc	p.A337P	PSD4_ENST00000441564.3_Missense_Mutation_p.A337P	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	337					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTCAGTGGCTGCCGCTGAGGG	0.617																																						uc002tjc.2		NaN																	0				ovary(2)	2						c.(1009-1011)GCC>CCC		pleckstrin and Sec7 domain containing 4							37.0	36.0	36.0					2																	113941042		2171	4248	6419	SO:0001583	missense	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113941042G>C	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.1009G>C	2.37:g.113941042G>C	ENSP00000245796:p.Ala337Pro					PSD4_uc002tjd.2_5'UTR|PSD4_uc002tje.2_Missense_Mutation_p.A336P|PSD4_uc002tjf.2_5'Flank	p.A337P	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN			2	1192	+			337					A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	ENST00000245796.6	37	c.1009G>C	CCDS33276.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.464280	0.43736	.	.	ENSG00000125637	ENST00000245796;ENST00000441564	T;T	0.11821	2.77;2.74	5.49	-11.0	0.00169	.	2.591460	0.00982	N	0.003380	T	0.06508	0.0167	L	0.27053	0.805	0.09310	N	0.999997	B;B	0.16802	0.019;0.011	B;B	0.16289	0.015;0.006	T	0.25606	-1.0127	9	.	.	.	.	1.29	0.02058	0.453:0.164:0.1265:0.2566	.	337;337	Q8NDX1-2;Q8NDX1	.;PSD4_HUMAN	P	337	ENSP00000245796:A337P;ENSP00000413997:A337P	.	A	+	1	0	PSD4	113657513	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.608000	0.05641	-2.981000	0.00283	-0.878000	0.02970	GCC		0.617	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1		NM_012455		29	32	0	0	0	0.009535	0	29	32		
INHBB	3625	broad.mit.edu	37	2	121107164	121107164	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:121107164G>C	ENST00000295228.3	+	2	984	c.938G>C	c.(937-939)cGc>cCc	p.R313P		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	313					activin receptor signaling pathway (GO:0032924)|cell differentiation (GO:0030154)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|cellular response to starvation (GO:0009267)|defense response (GO:0006952)|fat cell differentiation (GO:0045444)|growth (GO:0040007)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of hepatocyte growth factor biosynthetic process (GO:0048178)|negative regulation of insulin secretion (GO:0046676)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|response to mechanical stimulus (GO:0009612)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|hormone activity (GO:0005179)|host cell surface receptor binding (GO:0046789)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				ATTGACTTCCGCCTCATCGGC	0.632																																						uc002tmn.2		NaN																	0				pancreas(2)|skin(1)	3						c.(937-939)CGC>CCC		inhibin beta B subunit preproprotein							92.0	88.0	89.0					2																	121107164		2203	4300	6503	SO:0001583	missense	3625				activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity	g.chr2:121107164G>C		CCDS2132.1	2q14.2	2014-01-30	2007-07-30		ENSG00000163083	ENSG00000163083		"""Endogenous ligands"""	6067	protein-coding gene	gene with protein product		147390	"""inhibin, beta B (activin AB beta polypeptide)"""			3345731	Standard	NM_002193		Approved		uc002tmn.2	P09529	OTTHUMG00000131437	ENST00000295228.3:c.938G>C	2.37:g.121107164G>C	ENSP00000295228:p.Arg313Pro						p.R313P	NM_002193	NP_002184	P09529	INHBB_HUMAN			2	984	+		Prostate(154;0.122)	313					Q53T31|Q8N1D3	Missense_Mutation	SNP	ENST00000295228.3	37	c.938G>C	CCDS2132.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.992251	0.54041	.	.	ENSG00000163083	ENST00000295228	T	0.65178	-0.14	4.69	4.69	0.59074	Transforming growth factor-beta, C-terminal (3);	0.069285	0.56097	D	0.000026	T	0.75117	0.3806	M	0.75615	2.305	0.50813	D	0.999896	D	0.53619	0.961	D	0.64144	0.922	T	0.77327	-0.2629	10	0.72032	D	0.01	-22.1293	11.0734	0.48016	0.0904:0.0:0.9096:0.0	.	313	P09529	INHBB_HUMAN	P	313	ENSP00000295228:R313P	ENSP00000295228:R313P	R	+	2	0	INHBB	120823634	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	6.515000	0.73751	2.597000	0.87782	0.563000	0.77884	CGC		0.632	INHBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254234.1				71	91	0	0	0	0.01441	0	71	91		
BIN1	274	broad.mit.edu	37	2	127821519	127821519	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:127821519G>A	ENST00000316724.5	-	8	1099	c.688C>T	c.(688-690)Ctg>Ttg	p.L230L	BIN1_ENST00000357970.3_Silent_p.L230L|BIN1_ENST00000393040.3_Silent_p.L199L|BIN1_ENST00000393041.3_Silent_p.L199L|BIN1_ENST00000376113.2_Silent_p.L199L|BIN1_ENST00000346226.3_Silent_p.L199L|BIN1_ENST00000352848.3_Silent_p.L199L|BIN1_ENST00000348750.4_Silent_p.L199L|BIN1_ENST00000259238.4_Silent_p.L199L|BIN1_ENST00000351659.3_Silent_p.L230L|BIN1_ENST00000409400.1_Silent_p.L199L|BIN1_ENST00000466111.1_5'UTR	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	230	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|lipid tube assembly (GO:0060988)|muscle cell differentiation (GO:0042692)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of endocytosis (GO:0045807)|positive regulation of GTPase activity (GO:0043547)|regulation of cell cycle arrest (GO:0071156)|regulation of neuron differentiation (GO:0045664)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon initial segment (GO:0043194)|axon terminus (GO:0043679)|cerebellar mossy fiber (GO:0044300)|cytoplasm (GO:0005737)|I band (GO:0031674)|lipid tube (GO:0060987)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)|T-tubule (GO:0030315)|varicosity (GO:0043196)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|tau protein binding (GO:0048156)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CTGTTCCACAGGGACGGCAGC	0.652																																						uc002tns.1		NaN																	0				ovary(2)|central_nervous_system(2)|skin(2)|lung(1)	7						c.(688-690)CTG>TTG		bridging integrator 1 isoform 1							86.0	78.0	81.0					2																	127821519		2203	4300	6503	SO:0001819	synonymous_variant	274				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus		g.chr2:127821519G>A	U68485	CCDS2137.1, CCDS2138.1, CCDS2139.1, CCDS2140.1, CCDS2141.1, CCDS2142.1, CCDS2143.1, CCDS42743.1, CCDS42744.1, CCDS46403.1	2q14	2014-09-17			ENSG00000136717	ENSG00000136717			1052	protein-coding gene	gene with protein product	"""amphiphysin II"""	601248		AMPHL		8725406, 8782822, 17676042	Standard	NM_004305		Approved	SH3P9, AMPH2	uc002tns.2	O00499	OTTHUMG00000131465	ENST00000316724.5:c.688C>T	2.37:g.127821519G>A						BIN1_uc010yzf.1_Silent_p.L175L|BIN1_uc010yzg.1_Silent_p.L230L|BIN1_uc002tnu.1_Silent_p.L199L|BIN1_uc002toa.1_Silent_p.L199L|BIN1_uc002tnt.1_Silent_p.L199L|BIN1_uc002tnv.1_Silent_p.L230L|BIN1_uc002tnw.1_Silent_p.L199L|BIN1_uc002tnx.1_Silent_p.L199L|BIN1_uc002tny.1_Silent_p.L230L|BIN1_uc002tnz.1_Silent_p.L199L|BIN1_uc002tob.1_Silent_p.L199L|BIN1_uc002toc.1_Silent_p.L199L	p.L230L	NM_139343	NP_647593	O00499	BIN1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.073)	8	1033	-	Colorectal(110;0.0831)		230			BAR.|Potential.		O00297|O00545|O43867|O60552|O60553|O60554|O60555|O75514|O75515|O75516|O75517|O75518|Q659B7|Q92944|Q99688	Silent	SNP	ENST00000316724.5	37	c.688C>T	CCDS2138.1																																																																																				0.652	BIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254298.2		NM_139343		51	48	0	0	0	0.01441	0	51	48		
IMP4	92856	broad.mit.edu	37	2	131103212	131103212	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:131103212G>T	ENST00000259239.3	+	5	1087	c.379G>T	c.(379-381)Gcc>Tcc	p.A127S	IMP4_ENST00000409935.1_Missense_Mutation_p.A127S	NM_033416.1	NP_219484.1	Q96G21	IMP4_HUMAN	IMP4, U3 small nucleolar ribonucleoprotein	127	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				rRNA processing (GO:0006364)	nucleolus (GO:0005730)|ribonucleoprotein complex (GO:0030529)				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	18	Colorectal(110;0.1)					ACTGGTGCGAGCCTGCAAAGC	0.647																																						uc002tra.1		NaN																	0				central_nervous_system(2)	2						c.(379-381)GCC>TCC		IMP4, U3 small nucleolar ribonucleoprotein,							51.0	52.0	52.0					2																	131103212		2203	4300	6503	SO:0001583	missense	92856				rRNA processing|translation	nucleolus|ribonucleoprotein complex	aminoacyl-tRNA ligase activity|ATP binding|protein binding	g.chr2:131103212G>T	BC010042	CCDS2160.1	2q21.1	2014-02-19	2014-02-19		ENSG00000136718	ENSG00000136718			30856	protein-coding gene	gene with protein product		612981	"""IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast)"""			8619474, 9110174, 12655004	Standard	NM_033416		Approved	MGC19606, BXDC4	uc002tra.1	Q96G21	OTTHUMG00000131627	ENST00000259239.3:c.379G>T	2.37:g.131103212G>T	ENSP00000259239:p.Ala127Ser						p.A127S	NM_033416	NP_219484	Q96G21	IMP4_HUMAN			5	396	+	Colorectal(110;0.1)		127			Brix.		Q3ZTT3	Missense_Mutation	SNP	ENST00000259239.3	37	c.379G>T	CCDS2160.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.94|17.94	3.510741|3.510741	0.64522|0.64522	.|.	.|.	ENSG00000136718|ENSG00000136718	ENST00000259239;ENST00000409935;ENST00000409649;ENST00000428740|ENST00000452955	T;T;T;T|.	0.22945|.	1.93;1.93;1.93;1.93|.	5.06|5.06	5.06|5.06	0.68205|0.68205	Brix domain (3);Anticodon-binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70824|0.70824	0.3268|0.3268	L|L	0.60845|0.60845	1.875|1.875	0.80722|0.80722	D|D	1|1	B|.	0.29188|.	0.236|.	B|.	0.37943|.	0.261|.	T|T	0.69289|0.69289	-0.5184|-0.5184	10|5	0.25106|.	T|.	0.35|.	-37.8448|-37.8448	16.312|16.312	0.82874|0.82874	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	127|.	Q96G21|.	IMP4_HUMAN|.	S|D	127;127;42;72|115	ENSP00000259239:A127S;ENSP00000386411:A127S;ENSP00000386716:A42S;ENSP00000389701:A72S|.	ENSP00000259239:A127S|.	A|E	+|+	1|3	0|2	IMP4|IMP4	130819682|130819682	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	8.636000|8.636000	0.91010|0.91010	2.517000|2.517000	0.84864|0.84864	0.655000|0.655000	0.94253|0.94253	GCC|GAG		0.647	IMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254520.2		NM_033416		27	34	1	0	1.26454e-06	0.005443	1.31674e-06	27	34		
AMER3	205147	broad.mit.edu	37	2	131521341	131521341	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:131521341C>G	ENST00000423981.1	+	2	1806	c.1696C>G	c.(1696-1698)Cag>Gag	p.Q566E	AMER3_ENST00000321420.4_Missense_Mutation_p.Q566E	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	566					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										ACCCAGCAGGCAGGAGCTGTG	0.692																																						uc002trw.2		NaN																	0				pancreas(2)|ovary(1)	3						c.(1696-1698)CAG>GAG		hypothetical protein LOC205147							18.0	22.0	20.0					2																	131521341		2200	4295	6495	SO:0001583	missense	205147							g.chr2:131521341C>G	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1696C>G	2.37:g.131521341C>G	ENSP00000392700:p.Gln566Glu					FAM123C_uc010fmv.2_Missense_Mutation_p.Q566E|FAM123C_uc010fms.1_Missense_Mutation_p.Q566E|FAM123C_uc010fmt.1_Missense_Mutation_p.Q566E|FAM123C_uc010fmu.1_Missense_Mutation_p.Q566E	p.Q566E	NM_152698	NP_689911	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	2	1886	+	Colorectal(110;0.1)		566					B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	c.1696C>G	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.991638	0.35131	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.46063	0.88;0.88	4.69	1.16	0.20824	.	0.495268	0.15477	N	0.260312	T	0.20373	0.0490	L	0.27053	0.805	0.21527	N	0.999656	B	0.25667	0.131	B	0.19666	0.026	T	0.19516	-1.0303	10	0.07644	T	0.81	.	3.5306	0.07775	0.4327:0.4239:0.0:0.1434	.	566	Q8N944	F123C_HUMAN	E	566	ENSP00000314914:Q566E;ENSP00000392700:Q566E	ENSP00000314914:Q566E	Q	+	1	0	FAM123C	131237811	0.003000	0.15002	0.581000	0.28614	0.879000	0.50718	-0.005000	0.12855	0.472000	0.27344	0.561000	0.74099	CAG		0.692	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3		NM_152698		19	26	0	0	0	0.010504	0	19	26		
TUBA3D	113457	broad.mit.edu	37	2	132235813	132235813	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:132235813A>G	ENST00000321253.6	+	2	187	c.80A>G	c.(79-81)gAa>gGa	p.E27G		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	27					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		TACTGCCTTGAACATGGAATT	0.532																																					Ovarian(137;2059 2432 35543 39401)	uc002tsu.3		NaN																	0					0						c.(79-81)GAA>GGA		tubulin, alpha 3d							146.0	131.0	136.0					2																	132235813		2203	4300	6503	SO:0001583	missense	113457				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:132235813A>G	K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"""Tubulins"""	24071	protein-coding gene	gene with protein product	"""alpha-tubulin isotype H2-alpha"""					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.80A>G	2.37:g.132235813A>G	ENSP00000326042:p.Glu27Gly						p.E27G	NM_080386	NP_525125	Q13748	TBA3C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	2	187	+			27					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000321253.6	37	c.80A>G	CCDS33290.1	.	.	.	.	.	.	.	.	.	.	a	11.45	1.641771	0.29157	.	.	ENSG00000075886	ENST00000321253;ENST00000341158	T	0.76060	-0.99	2.47	2.47	0.30058	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.46442	U	0.000289	D	0.90386	0.6991	H	0.99487	4.59	0.46499	D	0.999078	D	0.61080	0.989	D	0.69307	0.963	D	0.90460	0.4445	10	0.87932	D	0	.	8.4519	0.32875	1.0:0.0:0.0:0.0	.	27	Q13748	TBA3C_HUMAN	G	27	ENSP00000326042:E27G	ENSP00000326042:E27G	E	+	2	0	TUBA3D	131952283	1.000000	0.71417	0.995000	0.50966	0.349000	0.29174	7.946000	0.87746	1.129000	0.42072	0.163000	0.16589	GAA		0.532	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2		NM_080386		53	97	0	0	0	0.01441	0	53	97		
THSD7B	80731	broad.mit.edu	37	2	138414682	138414682	+	Missense_Mutation	SNP	A	A	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:138414682A>T	ENST00000409968.1	+	24	4505	c.4327A>T	c.(4327-4329)Aac>Tac	p.N1443Y	THSD7B_ENST00000272643.3_Missense_Mutation_p.N1446Y|THSD7B_ENST00000413152.2_Missense_Mutation_p.N1415Y|THSD7B_ENST00000543459.1_Silent_p.I277I			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1445						integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TTGGAACAATAACGAACGAAC	0.418																																						uc002tva.1		NaN																	0				ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(4240-4242)AAC>TAC		thrombospondin, type I, domain containing 7B							121.0	119.0	119.0					2																	138414682		1944	4161	6105	SO:0001583	missense	80731							g.chr2:138414682A>T			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.4327A>T	2.37:g.138414682A>T	ENSP00000387145:p.Asn1443Tyr					THSD7B_uc010zbj.1_RNA	p.N1414Y	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	23	4240	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.4240A>T		.	.	.	.	.	.	.	.	.	.	A	23.7	4.450230	0.84101	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.24538	2.38;2.25;1.85	6.13	6.13	0.99165	.	0.000000	0.85682	D	0.000000	T	0.43033	0.1229	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.31110	-0.9955	10	0.02654	T	1	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	1415	C9JKN6	.	Y	1443;1446;1415	ENSP00000387145:N1443Y;ENSP00000272643:N1446Y;ENSP00000413841:N1415Y	ENSP00000272643:N1446Y	N	+	1	0	THSD7B	138131152	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.077000	0.76814	2.367000	0.80283	0.529000	0.55759	AAC		0.418	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2		XM_046570.9		30	36	0	0	0	0.013726	0	30	36		
ARHGAP15	55843	broad.mit.edu	37	2	143959730	143959730	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:143959730C>T	ENST00000295095.6	+	3	360	c.193C>T	c.(193-195)Cag>Tag	p.Q65*	ARHGAP15_ENST00000409869.1_Nonsense_Mutation_p.Q65*	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	65					positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		GAATCATTCACAGCATATCTT	0.299																																						uc002tvm.3		NaN																	0				ovary(1)|skin(1)	2						c.(193-195)CAG>TAG		ARHGAP15							119.0	119.0	119.0					2																	143959730		2203	4300	6503	SO:0001587	stop_gained	55843				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	g.chr2:143959730C>T	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.193C>T	2.37:g.143959730C>T	ENSP00000295095:p.Gln65*					ARHGAP15_uc010zbl.1_Nonsense_Mutation_p.Q65*	p.Q65*	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.151)	3	344	+			65					Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Nonsense_Mutation	SNP	ENST00000295095.6	37	c.193C>T	CCDS2184.1	.	.	.	.	.	.	.	.	.	.	C	37	6.456999	0.97581	.	.	ENSG00000075884	ENST00000409869;ENST00000295095	.	.	.	5.61	5.61	0.85477	.	0.067355	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	17.8083	0.88608	0.0:1.0:0.0:0.0	.	.	.	.	X	65	.	ENSP00000295095:Q65X	Q	+	1	0	ARHGAP15	143676200	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.000000	0.63940	2.646000	0.89796	0.585000	0.79938	CAG		0.299	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2		NM_018460		25	53	0	0	0	0.009535	0	25	53		
DPP4	1803	broad.mit.edu	37	2	162865119	162865119	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:162865119A>G	ENST00000360534.3	-	22	2500	c.1940T>C	c.(1939-1941)tTc>tCc	p.F647S	DPP4_ENST00000491591.1_5'UTR	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	647					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	TCCACACTTGAACACGCCACT	0.463																																						uc002ubz.2		NaN																	0				ovary(3)	3						c.(1939-1941)TTC>TCC		dipeptidylpeptidase IV	Sitagliptin(DB01261)						103.0	91.0	95.0					2																	162865119		2203	4300	6503	SO:0001583	missense	1803				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	g.chr2:162865119A>G	M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"""CD molecules"""	3009	protein-coding gene	gene with protein product		102720	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.1940T>C	2.37:g.162865119A>G	ENSP00000353731:p.Phe647Ser					DPP4_uc010fpb.2_Missense_Mutation_p.F323S	p.F647S	NM_001935	NP_001926	P27487	DPP4_HUMAN			22	2501	-			647			Extracellular (Potential).		Q53TN1	Missense_Mutation	SNP	ENST00000360534.3	37	c.1940T>C	CCDS2216.1	.	.	.	.	.	.	.	.	.	.	A	30	5.055259	0.93793	.	.	ENSG00000197635	ENST00000360534	T	0.59772	0.24	5.84	5.84	0.93424	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.85703	0.5758	H	0.98629	4.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91328	0.5087	10	0.87932	D	0	-22.4798	16.2108	0.82158	1.0:0.0:0.0:0.0	.	647	P27487	DPP4_HUMAN	S	647	ENSP00000353731:F647S	ENSP00000353731:F647S	F	-	2	0	DPP4	162573365	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.232000	0.73038	0.533000	0.62120	TTC		0.463	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2				45	51	0	0	0	0.01441	0	45	51		
SCN1A	6323	broad.mit.edu	37	2	166901824	166901824	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:166901824G>A	ENST00000303395.4	-	10	1390	c.1391C>T	c.(1390-1392)gCa>gTa	p.A464V	SCN1A_ENST00000423058.2_Missense_Mutation_p.A464V|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.A464V|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.A464V			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	464					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGAGGCAGTTGCCGTTGCTGC	0.448																																						uc010zcz.1		NaN																	0				ovary(6)|skin(6)|large_intestine(1)	13						c.(1390-1392)GCA>GTA		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						74.0	77.0	76.0					2																	166901824		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166901824G>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.1391C>T	2.37:g.166901824G>A	ENSP00000303540:p.Ala464Val					SCN1A_uc002udo.3_Missense_Mutation_p.A333V|SCN1A_uc010fpk.2_Missense_Mutation_p.A333V	p.A464V	NM_006920	NP_008851	P35498	SCN1A_HUMAN			10	1409	-			464					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.1391C>T	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.015918	0.35606	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	T;T;T;T	0.26373	1.74;1.74;1.74;1.74	5.63	-0.149	0.13420	.	1.695810	0.03532	N	0.222557	T	0.28532	0.0706	L	0.54908	1.71	0.09310	N	0.999997	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.004;0.002;0.002	T	0.39800	-0.9596	10	0.45353	T	0.12	.	11.2717	0.49142	0.4378:0.0:0.5622:0.0	.	464;464;464	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	V	464	ENSP00000407030:A464V;ENSP00000303540:A464V;ENSP00000364554:A464V;ENSP00000386312:A464V	ENSP00000303540:A464V	A	-	2	0	SCN1A	166610070	0.000000	0.05858	0.013000	0.15412	0.241000	0.25554	0.258000	0.18387	0.077000	0.16863	-0.345000	0.07892	GCA		0.448	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1		NM_006920		53	91	0	0	0	0.01441	0	53	91		
SCN1A	6323	broad.mit.edu	37	2	166903446	166903446	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:166903446A>G	ENST00000303395.4	-	9	1210	c.1211T>C	c.(1210-1212)gTa>gCa	p.V404A	SCN1A_ENST00000423058.2_Missense_Mutation_p.V404A|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.V404A|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.V404A			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	404					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AATGACCAATACAAAAAATAT	0.398																																						uc010zcz.1		NaN																	0				ovary(6)|skin(6)|large_intestine(1)	13						c.(1210-1212)GTA>GCA		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						102.0	99.0	100.0					2																	166903446		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166903446A>G	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.1211T>C	2.37:g.166903446A>G	ENSP00000303540:p.Val404Ala					SCN1A_uc002udo.3_Missense_Mutation_p.V273A|SCN1A_uc010fpk.2_Missense_Mutation_p.V273A	p.V404A	NM_006920	NP_008851	P35498	SCN1A_HUMAN			9	1229	-			404			Helical; Name=S6 of repeat I; (By similarity).|I.		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.1211T>C	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.714418	0.89112	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98947	-5.26;-5.26;-5.26;-5.26	5.49	5.49	0.81192	Ion transport (1);	0.000000	0.64402	D	0.000013	D	0.99248	0.9738	M	0.90019	3.08	0.80722	D	1	D;D;D	0.69078	0.994;0.996;0.997	P;D;D	0.79108	0.908;0.981;0.992	D	0.99204	1.0874	10	0.87932	D	0	.	15.8917	0.79303	1.0:0.0:0.0:0.0	.	404;404;404	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	A	404	ENSP00000407030:V404A;ENSP00000303540:V404A;ENSP00000364554:V404A;ENSP00000386312:V404A	ENSP00000303540:V404A	V	-	2	0	SCN1A	166611692	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.284000	0.95882	2.212000	0.71576	0.533000	0.62120	GTA		0.398	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1		NM_006920		60	44	0	0	0	0.01441	0	60	44		
TTN	7273	broad.mit.edu	37	2	179403929	179403929	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:179403929C>T	ENST00000591111.1	-	303	94034	c.93810G>A	c.(93808-93810)aaG>aaA	p.K31270K	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342175.6_Silent_p.K24038K|TTN-AS1_ENST00000585487.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.K23971K|TTN_ENST00000460472.2_Silent_p.K23846K|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000589042.1_Silent_p.K32911K|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000342992.6_Silent_p.K30343K			Q8WZ42	TITIN_HUMAN	titin	31270	Fibronectin type-III 128. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAACAGAACTCTTGGTTACAT	0.458																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(91027-91029)AAG>AAA		titin isoform N2-A							128.0	118.0	121.0					2																	179403929		1934	4132	6066	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179403929C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.93810G>A	2.37:g.179403929C>T						uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.K24038K|TTN_uc010zfi.1_Silent_p.K23971K|TTN_uc010zfj.1_Silent_p.K23846K	p.K30343K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		302	91253	-			31270					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.91029G>A																																																																																					0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		11	35	0	0	0	0.010729	0	11	35		
TTN	7273	broad.mit.edu	37	2	179593726	179593726	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:179593726C>A	ENST00000591111.1	-	63	18312	c.18088G>T	c.(18088-18090)Gcc>Tcc	p.A6030S	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.A6347S|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A5103S			Q8WZ42	TITIN_HUMAN	titin	12821	Ig-like 41.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAAGTGTGGCCACACTGTCC	0.413																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(15307-15309)GCC>TCC		titin isoform N2-A							67.0	61.0	63.0					2																	179593726		1879	4114	5993	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179593726C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.18088G>T	2.37:g.179593726C>A	ENSP00000465570:p.Ala6030Ser					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A1764S	p.A5103S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		62	15531	-			6030					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.15307G>T		.	.	.	.	.	.	.	.	.	.	C	10.36	1.329456	0.24167	.	.	ENSG00000155657	ENST00000342992	T	0.39787	1.06	5.93	5.93	0.95920	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.61726	0.2370	L	0.45581	1.43	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.60895	-0.7172	9	0.87932	D	0	.	20.3539	0.98825	0.0:1.0:0.0:0.0	.	6030	Q8WZ42	TITIN_HUMAN	S	5103	ENSP00000343764:A5103S	ENSP00000343764:A5103S	A	-	1	0	TTN	179301971	1.000000	0.71417	1.000000	0.80357	0.186000	0.23388	6.079000	0.71291	2.826000	0.97356	0.655000	0.94253	GCC		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		17	15	1	0	1.02788e-11	0.00499	1.15248e-11	17	15		
CERKL	375298	broad.mit.edu	37	2	182403985	182403985	+	Missense_Mutation	SNP	A	A	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:182403985A>T	ENST00000339098.5	-	13	1449	c.1450T>A	c.(1450-1452)Ttt>Att	p.F484I	CERKL_ENST00000374969.2_Missense_Mutation_p.F345I|CERKL_ENST00000409440.3_Missense_Mutation_p.F440I|CERKL_ENST00000374970.2_Missense_Mutation_p.F389I|CERKL_ENST00000410087.3_Missense_Mutation_p.F458I			Q49MI3	CERKL_HUMAN	ceramide kinase-like	484					negative regulation of apoptotic process (GO:0043066)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			ACAAATGGAAAATTGAACTAA	0.353																																						uc002unx.2		NaN																	0				ovary(2)|kidney(1)|skin(1)	4						c.(1450-1452)TTT>ATT		ceramide kinase-like isoform b							59.0	60.0	60.0					2																	182403985		2203	4298	6501	SO:0001583	missense	375298				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus	diacylglycerol kinase activity	g.chr2:182403985A>T	BC020465	CCDS33340.1, CCDS33341.1, CCDS42789.1, CCDS46466.1, CCDS54425.1	2q31.3	2005-01-04			ENSG00000188452	ENSG00000188452			21699	protein-coding gene	gene with protein product			"""retinitis pigmentosa 26 (autosomal recessive)"""	RP26		14681825	Standard	NR_027689		Approved		uc002uny.3	Q49MI3	OTTHUMG00000154315	ENST00000339098.5:c.1450T>A	2.37:g.182403985A>T	ENSP00000341159:p.Phe484Ile					CERKL_uc002uny.2_Missense_Mutation_p.F458I|CERKL_uc010zfm.1_Missense_Mutation_p.F440I|CERKL_uc002unz.2_Missense_Mutation_p.F206I|CERKL_uc002uoa.2_Missense_Mutation_p.F389I|CERKL_uc002uob.2_Missense_Mutation_p.F206I|CERKL_uc002uoc.2_Missense_Mutation_p.F345I|CERKL_uc010frk.2_RNA|CERKL_uc002unw.2_Missense_Mutation_p.F54I	p.F484I	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		13	1551	-			484					B2RPL2|B4DEY1|Q49MH9|Q49MI0|Q49MI1|Q49MI2|Q5DVJ2|Q5DVJ4|Q5DVJ5|Q6UZF6|Q6ZP59	Missense_Mutation	SNP	ENST00000339098.5	37	c.1450T>A	CCDS42789.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.504685	0.85176	.	.	ENSG00000188452	ENST00000410087;ENST00000409440;ENST00000374969;ENST00000339098;ENST00000374970	T;T;T;T;T	0.13420	2.59;2.59;2.59;2.59;2.59	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.43411	0.1246	M	0.87758	2.905	0.54753	D	0.999986	D;D;D;D;P	0.89917	0.99;0.998;1.0;0.994;0.908	P;D;D;P;P	0.87578	0.743;0.939;0.998;0.901;0.521	T	0.41251	-0.9519	10	0.37606	T	0.19	.	16.1827	0.81921	1.0:0.0:0.0:0.0	.	440;345;389;458;484	B4DEY1;Q49MI3-4;Q49MI3-3;Q49MI3-2;Q49MI3	.;.;.;.;CERKL_HUMAN	I	458;440;345;484;389	ENSP00000386725:F458I;ENSP00000387080:F440I;ENSP00000364108:F345I;ENSP00000341159:F484I;ENSP00000364109:F389I	ENSP00000341159:F484I	F	-	1	0	CERKL	182112230	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	7.357000	0.79456	2.282000	0.76494	0.523000	0.50628	TTT		0.353	CERKL-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334811.1				26	29	0	0	0	0.005443	0	26	29		
SLC40A1	30061	broad.mit.edu	37	2	190428407	190428407	+	Silent	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:190428407C>A	ENST00000261024.2	-	7	1731	c.1305G>T	c.(1303-1305)ggG>ggT	p.G435G		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	435					anatomical structure morphogenesis (GO:0009653)|cellular iron ion homeostasis (GO:0006879)|endothelium development (GO:0003158)|iron ion transmembrane transport (GO:0034755)|lymphocyte homeostasis (GO:0002260)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of apoptotic process (GO:0043066)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|spleen trabecula formation (GO:0060345)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	iron ion transmembrane transporter activity (GO:0005381)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			CAGAATTAGACCCATTAGACA	0.408																																						uc002uqp.3		NaN																	0				ovary(1)	1						c.(1303-1305)GGG>GGT		solute carrier family 40 (iron-regulated							92.0	94.0	93.0					2																	190428407		2203	4300	6503	SO:0001819	synonymous_variant	30061				anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding	g.chr2:190428407C>A	AF215636	CCDS2299.1	2q32	2014-09-17	2003-06-04	2003-06-05	ENSG00000138449	ENSG00000138449		"""Solute carriers"""	10909	protein-coding gene	gene with protein product	"""ferroportin 1"""	604653	"""solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3"""	SLC11A3		10828623	Standard	NM_014585		Approved	MTP1, IREG1, FPN1, HFE4	uc002uqp.4	Q9NP59	OTTHUMG00000132662	ENST00000261024.2:c.1305G>T	2.37:g.190428407C>A							p.G435G	NM_014585	NP_055400	Q9NP59	S40A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)		7	1656	-			435					Q6FI62|Q7Z4F8|Q8IVB2|Q9NRL0	Silent	SNP	ENST00000261024.2	37	c.1305G>T	CCDS2299.1																																																																																				0.408	SLC40A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255916.2				41	49	1	0	1.67305e-13	0.00623	1.89886e-13	41	49		
MYO1B	4430	broad.mit.edu	37	2	192255219	192255219	+	Splice_Site	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:192255219G>C	ENST00000392318.3	+	18	2229		c.e18+1		MYO1B_ENST00000304164.4_Splice_Site|MYO1B_ENST00000439065.2_5'Flank|MYO1B_ENST00000392316.1_Splice_Site|MYO1B_ENST00000339514.4_Splice_Site	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB						actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GACCAGCCAGGTAAGAAATTC	0.378																																						uc010fsg.2		NaN																	0				central_nervous_system(5)|large_intestine(2)|ovary(1)	8						c.e18+1		myosin IB isoform 1							33.0	31.0	31.0					2																	192255219		2203	4300	6503	SO:0001630	splice_region_variant	4430					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr2:192255219G>C	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.1982+1G>C	2.37:g.192255219G>C						MYO1B_uc002usq.2_Splice_Site_p.R661_splice|MYO1B_uc002usr.2_Splice_Site_p.R661_splice|MYO1B_uc002usu.2_5'Flank	p.R661_splice	NM_001130158	NP_001123630	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		18	2237	+								O43794|Q7Z6L5	Splice_Site	SNP	ENST00000392318.3	37	c.1982_splice	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.807713	0.90623	.	.	ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.443	0.94831	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYO1B	191963464	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.652000	0.98499	2.814000	0.96858	0.655000	0.94253	.		0.378	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1		NM_012223	Intron	16	20	0	0	0	0.004007	0	16	20		
NRP2	8828	broad.mit.edu	37	2	206631519	206631519	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:206631519C>T	ENST00000357785.5	+	15	2448	c.2417C>T	c.(2416-2418)gCt>gTt	p.A806V	NRP2_ENST00000360409.3_Missense_Mutation_p.A806V|NRP2_ENST00000540841.1_Intron|AC007362.3_ENST00000423425.1_RNA|NRP2_ENST00000272849.3_Missense_Mutation_p.A806V|NRP2_ENST00000412873.2_Missense_Mutation_p.A806V|NRP2_ENST00000485684.1_3'UTR|NRP2_ENST00000357118.4_Missense_Mutation_p.A806V|AC007362.3_ENST00000598710.1_RNA|AC007362.3_ENST00000596616.1_RNA|NRP2_ENST00000540178.1_Intron			Q99435	NELL2_HUMAN	neuropilin 2	0						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CCCATCTCGGCTTTTGCAGGT	0.343											OREG0015156	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002vaw.2		NaN																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(2416-2418)GCT>GTT		neuropilin 2 isoform 1 precursor							93.0	95.0	94.0					2																	206631519		2151	4288	6439	SO:0001583	missense	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206631519C>T	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.2417C>T	2.37:g.206631519C>T	ENSP00000350432:p.Ala806Val		OREG0015156	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2161	NRP2_uc002vau.2_Missense_Mutation_p.A806V|NRP2_uc002vav.2_Missense_Mutation_p.A806V|NRP2_uc002vax.2_Missense_Mutation_p.A806V|NRP2_uc002vay.2_Missense_Mutation_p.A806V	p.A806V	NM_201266	NP_957718	O60462	NRP2_HUMAN			15	3208	+			806			Extracellular (Potential).		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357785.5	37	c.2417C>T	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.202111	0.58234	.	.	ENSG00000118257	ENST00000360409;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	D;D;D;D;D	0.87966	-2.19;-2.24;-2.26;-2.25;-2.32	5.45	5.45	0.79879	.	0.103138	0.64402	D	0.000004	T	0.74619	0.3740	N	0.08118	0	0.80722	D	1	B;B;B;P;B	0.40834	0.231;0.118;0.041;0.73;0.433	B;B;B;B;B	0.32980	0.1;0.156;0.037;0.156;0.156	T	0.80850	-0.1198	10	0.87932	D	0	-10.414	16.4443	0.83913	0.0:1.0:0.0:0.0	.	806;806;806;806;806	O60462-2;O60462-3;O60462;O60462-4;O60462-5	.;.;NRP2_HUMAN;.;.	V	806	ENSP00000353582:A806V;ENSP00000349632:A806V;ENSP00000350432:A806V;ENSP00000407626:A806V;ENSP00000272849:A806V	ENSP00000272849:A806V	A	+	2	0	NRP2	206339764	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.466000	0.60148	2.555000	0.86185	0.655000	0.94253	GCT		0.343	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1				24	24	0	0	0	0.005443	0	24	24		
ZDBF2	57683	broad.mit.edu	37	2	207170202	207170202	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:207170202C>T	ENST00000374423.3	+	5	1336	c.950C>T	c.(949-951)tCt>tTt	p.S317F		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	317							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GACATGCCTTCTAATAAAGGA	0.368																																						uc002vbp.2		NaN																	0				ovary(3)	3						c.(949-951)TCT>TTT		zinc finger, DBF-type containing 2							42.0	41.0	42.0					2																	207170202		1812	4079	5891	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207170202C>T	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.950C>T	2.37:g.207170202C>T	ENSP00000363545:p.Ser317Phe						p.S317F	NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN			5	1200	+			317					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.950C>T	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	C	0.688	-0.795610	0.02862	.	.	ENSG00000204186	ENST00000374423	T	0.18338	2.22	4.56	1.75	0.24633	.	1.128570	0.06942	N	0.813053	T	0.18383	0.0441	L	0.47716	1.5	0.09310	N	1	B	0.15473	0.013	B	0.12156	0.007	T	0.34950	-0.9808	10	0.44086	T	0.13	.	10.8549	0.46794	0.0:0.7708:0.0:0.2292	.	317	Q9HCK1	ZDBF2_HUMAN	F	317	ENSP00000363545:S317F	ENSP00000363545:S317F	S	+	2	0	ZDBF2	206878447	0.552000	0.26505	0.000000	0.03702	0.007000	0.05969	1.000000	0.29770	-0.095000	0.12351	-0.813000	0.03139	TCT		0.368	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1		NM_020923		8	15	0	0	0	0.004482	0	8	15		
FN1	2335	broad.mit.edu	37	2	216240428	216240428	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:216240428G>A	ENST00000359671.1	-	36	5893	c.5628C>T	c.(5626-5628)ggC>ggT	p.G1876G	FN1_ENST00000421182.1_Silent_p.G1786G|FN1_ENST00000345488.5_Silent_p.G1876G|FN1_ENST00000357867.4_Silent_p.G1786G|FN1_ENST00000446046.1_Silent_p.G1876G|FN1_ENST00000354785.4_Silent_p.G1967G|FN1_ENST00000323926.6_Silent_p.G1967G|FN1_ENST00000336916.4_Silent_p.G1876G|FN1_ENST00000432072.2_Silent_p.G1877G|FN1_ENST00000346544.3_Silent_p.G1876G|FN1_ENST00000357009.2_Silent_p.G1876G|FN1_ENST00000443816.1_Silent_p.G1786G|FN1_ENST00000356005.4_Silent_p.G1786G			P02751	FINC_HUMAN	fibronectin 1	1876	Binds to FBLN1.|Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Heparin-binding 2.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	TGTAGTCAGTGCCTGGTTGTA	0.438																																						uc002vfa.2		NaN																	0				central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13						c.(5899-5901)GGC>GGT		fibronectin 1 isoform 1 preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						113.0	111.0	112.0					2																	216240428		2203	4300	6503	SO:0001819	synonymous_variant	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216240428G>A		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.5628C>T	2.37:g.216240428G>A						FN1_uc002vfb.2_Silent_p.G1786G|FN1_uc002vfc.2_Silent_p.G1786G|FN1_uc002vfd.2_Silent_p.G1967G|FN1_uc002vfe.2_Silent_p.G1876G|FN1_uc002vff.2_Silent_p.G1876G|FN1_uc002vfg.2_Silent_p.G1786G|FN1_uc002vfh.2_Silent_p.G1786G|FN1_uc002vfi.2_Silent_p.G1967G|FN1_uc002vfj.2_Silent_p.G1877G|FN1_uc002vez.2_Silent_p.G161G|FN1_uc010zjp.1_Silent_p.G504G|FN1_uc002vfk.1_RNA|FN1_uc010fva.1_RNA|FN1_uc010fvb.1_RNA|FN1_uc010fvc.1_Silent_p.G329G|FN1_uc010fvd.1_Intron	p.G1967G	NM_212482	NP_997647	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	37	6167	-		Renal(323;0.127)	1966			Binds to FBLN1.|Heparin-binding 2.|Fibronectin type-III 15.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Silent	SNP	ENST00000359671.1	37	c.5901C>T																																																																																					0.438	FN1-204	KNOWN	basic	protein_coding	protein_coding			NM_212476		14	28	0	0	0	0.004007	0	14	28		
KCNJ13	3769	broad.mit.edu	37	2	233635823	233635823	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:233635823C>T	ENST00000233826.3	-	2	389	c.250G>A	c.(250-252)Gat>Aat	p.D84N	KCNJ13_ENST00000409779.1_Intron|KCNJ13_ENST00000410029.1_Missense_Mutation_p.D84N|GIGYF2_ENST00000452341.2_Intron|GIGYF2_ENST00000409547.1_Intron|GIGYF2_ENST00000373566.3_Intron|GIGYF2_ENST00000409480.1_Intron|GIGYF2_ENST00000373563.4_Intron|GIGYF2_ENST00000409451.3_Intron|GIGYF2_ENST00000409196.3_Intron	NM_002242.4	NP_002233.2	O60928	KCJ13_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 13	84					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	inward rectifier potassium channel activity (GO:0005242)			endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)		AGTTCCAGATCACCATTCATC	0.473																																						uc002vto.2		NaN																	0					0						c.(250-252)GAT>AAT		potassium inwardly-rectifying channel J13							237.0	219.0	225.0					2																	233635823		2203	4300	6503	SO:0001583	missense	3769					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr2:233635823C>T	AJ006128	CCDS2498.1, CCDS54437.1	2q37	2014-01-28			ENSG00000115474	ENSG00000115474		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6259	protein-coding gene	gene with protein product		603208				9878260, 9620703, 16382105	Standard	NM_002242		Approved	Kir7.1, Kir1.4, LCA16	uc002vtp.3	O60928	OTTHUMG00000153292	ENST00000233826.3:c.250G>A	2.37:g.233635823C>T	ENSP00000233826:p.Asp84Asn					GIGYF2_uc010zmj.1_Intron|GIGYF2_uc002vtg.2_Intron|GIGYF2_uc002vtj.3_Intron|GIGYF2_uc002vti.3_Intron|GIGYF2_uc002vtk.3_Intron|GIGYF2_uc002vth.3_Intron|GIGYF2_uc010zmk.1_Intron|GIGYF2_uc010zml.1_Intron|KCNJ13_uc002vtn.2_Intron|KCNJ13_uc002vtp.2_Missense_Mutation_p.D84N	p.D84N	NM_002242	NP_002233	O60928	IRK13_HUMAN		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)	1	293	-		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)	84			Extracellular (By similarity).		A0PGH1|O76023|Q53SA1|Q8N3Y4	Missense_Mutation	SNP	ENST00000233826.3	37	c.250G>A	CCDS2498.1	.	.	.	.	.	.	.	.	.	.	C	34	5.308241	0.95629	.	.	ENSG00000115474	ENST00000233826;ENST00000410029;ENST00000438786	D;D;D	0.97066	-4.23;-4.23;-4.23	5.6	5.6	0.85130	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.000000	0.85682	D	0.000000	D	0.98890	0.9624	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99525	1.0959	10	0.87932	D	0	.	19.6229	0.95667	0.0:1.0:0.0:0.0	.	84	O60928	IRK13_HUMAN	N	84;84;4	ENSP00000233826:D84N;ENSP00000386251:D84N;ENSP00000407284:D4N	ENSP00000233826:D84N	D	-	1	0	KCNJ13	233344067	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.786000	0.85741	2.628000	0.89032	0.655000	0.94253	GAT		0.473	KCNJ13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257036.1		NM_002242		57	42	0	0	0	0.01441	0	57	42		
COL6A3	1293	broad.mit.edu	37	2	238275417	238275417	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:238275417G>C	ENST00000295550.4	-	11	5865	c.5413C>G	c.(5413-5415)Ctg>Gtg	p.L1805V	COL6A3_ENST00000347401.3_Missense_Mutation_p.L1604V|COL6A3_ENST00000409809.1_Missense_Mutation_p.L1599V|COL6A3_ENST00000346358.4_Missense_Mutation_p.L1605V|COL6A3_ENST00000472056.1_Missense_Mutation_p.L1198V|COL6A3_ENST00000353578.4_Missense_Mutation_p.L1599V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1805	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGTTCGGACAGCTCCTGGACG	0.517																																						uc002vwl.2		NaN																	0				ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(5413-5415)CTG>GTG		alpha 3 type VI collagen isoform 1 precursor							103.0	95.0	98.0					2																	238275417		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238275417G>C	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5413C>G	2.37:g.238275417G>C	ENSP00000295550:p.Leu1805Val					COL6A3_uc002vwo.2_Missense_Mutation_p.L1599V|COL6A3_uc010znj.1_Missense_Mutation_p.L1198V	p.L1805V	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	11	5698	-		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)	1805			VWFA 9.|Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.5413C>G	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.783684	0.49891	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	5.52	5.52	0.82312	von Willebrand factor, type A (3);	0.000000	0.42420	D	0.000701	D	0.91586	0.7342	M	0.86097	2.795	0.52099	D	0.999945	D;D;D	0.89917	0.999;1.0;0.992	D;D;D	0.91635	0.999;0.999;0.912	D	0.92493	0.6002	10	0.72032	D	0.01	.	14.6784	0.68998	0.0717:0.0:0.9283:0.0	.	1198;1599;1805	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	V	1805;1604;1599;1198;1599;1605	ENSP00000295550:L1805V;ENSP00000315609:L1604V;ENSP00000315873:L1599V;ENSP00000418285:L1198V;ENSP00000386844:L1599V;ENSP00000295546:L1605V	ENSP00000295550:L1805V	L	-	1	2	COL6A3	237940156	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.732000	0.62029	2.590000	0.87494	0.655000	0.94253	CTG		0.517	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2		NM_004369		69	88	0	0	0	0.01441	0	69	88		
ANGPT4	51378	broad.mit.edu	37	20	869075	869075	+	Missense_Mutation	SNP	T	T	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr20:869075T>A	ENST00000381922.3	-	3	575	c.473A>T	c.(472-474)aAc>aTc	p.N158I	ANGPT4_ENST00000546022.1_Missense_Mutation_p.N158I	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	158					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						TGATGTCTGGTTCAGGAGCTG	0.602																																					Pancreas(181;481 2077 3259 31286 49856)	uc002wei.2		NaN																	0				ovary(2)	2						c.(472-474)AAC>ATC		angiopoietin 4 precursor							71.0	65.0	67.0					20																	869075		2203	4300	6503	SO:0001583	missense	51378				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr20:869075T>A	AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"""Fibrinogen C domain containing"""	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.473A>T	20.37:g.869075T>A	ENSP00000371347:p.Asn158Ile					ANGPT4_uc010zpn.1_Missense_Mutation_p.N152I	p.N158I	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN			3	576	-			158			Potential.		B4E3J9|Q5TFF4|Q9H4Z4	Missense_Mutation	SNP	ENST00000381922.3	37	c.473A>T	CCDS13009.1	.	.	.	.	.	.	.	.	.	.	t	13.27	2.186058	0.38609	.	.	ENSG00000101280	ENST00000381922;ENST00000546022	T;T	0.13778	2.56;2.56	4.44	2.18	0.27775	.	0.219448	0.35067	N	0.003467	T	0.24812	0.0602	M	0.72353	2.195	0.49389	D	0.999781	D;D	0.60160	0.987;0.987	P;P	0.55667	0.781;0.781	T	0.01056	-1.1466	10	0.87932	D	0	.	7.191	0.25826	0.0:0.1911:0.0:0.8089	.	158;158	B4E3J9;Q9Y264	.;ANGP4_HUMAN	I	158	ENSP00000371347:N158I;ENSP00000439605:N158I	ENSP00000371347:N158I	N	-	2	0	ANGPT4	817075	1.000000	0.71417	1.000000	0.80357	0.060000	0.15804	4.735000	0.62051	0.258000	0.21686	-0.775000	0.03384	AAC		0.602	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1		NM_015985		16	100	0	0	0	0.007413	0	16	100		
TMC2	117532	broad.mit.edu	37	20	2596782	2596782	+	Splice_Site	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr20:2596782G>T	ENST00000358864.1	+	15	1887		c.e15-1		TMC2_ENST00000496948.1_Splice_Site	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2						detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						tccctctctAGCCTTCATATG	0.468																																						uc002wgf.1		NaN																	0				ovary(3)	3						c.e15-1		transmembrane cochlear-expressed protein 2							155.0	129.0	138.0					20																	2596782		2203	4300	6503	SO:0001630	splice_region_variant	117532					integral to membrane		g.chr20:2596782G>T	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.1873-1G>T	20.37:g.2596782G>T						TMC2_uc002wgg.1_Splice_Site_p.P609_splice	p.P625_splice	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN			15	1888	+								Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Splice_Site	SNP	ENST00000358864.1	37	c.1873_splice	CCDS13029.2	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803189	0.70682	.	.	ENSG00000149488	ENST00000358864	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9108	0.86139	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMC2	2544782	1.000000	0.71417	0.997000	0.53966	0.762000	0.43233	6.413000	0.73308	2.690000	0.91761	0.655000	0.94253	.		0.468	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			Intron	32	43	1	0	2.70662e-09	0.009535	2.90556e-09	32	43		
MAVS	57506	broad.mit.edu	37	20	3845324	3845324	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr20:3845324G>T	ENST00000428216.2	+	6	1175	c.1047G>T	c.(1045-1047)ttG>ttT	p.L349F	MAVS_ENST00000416600.2_Missense_Mutation_p.L208F|MAVS_ENST00000358134.6_3'UTR	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	349					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CATCCAAATTGCCCATCAACT	0.567																																						uc002wjw.3		NaN																	0					0						c.(1045-1047)TTG>TTT		virus-induced signaling adapter							137.0	125.0	129.0					20																	3845324		2203	4300	6503	SO:0001583	missense	57506				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity	g.chr20:3845324G>T	DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"""virus-induced signaling adaptor"", ""IFN-B promoter stimulator 1"", ""CARD adaptor inducing IFN-beta"""	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.1047G>T	20.37:g.3845324G>T	ENSP00000401980:p.Leu349Phe					MAVS_uc002wjx.3_Missense_Mutation_p.L208F|MAVS_uc002wjy.3_Missense_Mutation_p.L47F	p.L349F	NM_020746	NP_065797	Q7Z434	MAVS_HUMAN			6	1216	+			349			Cytoplasmic (Probable).		A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Missense_Mutation	SNP	ENST00000428216.2	37	c.1047G>T	CCDS33437.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.269145	0.80469	.	.	ENSG00000088888	ENST00000416600;ENST00000428216	T;T	0.56103	0.48;1.53	3.99	2.02	0.26589	.	0.424382	0.20678	N	0.087708	T	0.56702	0.2003	L	0.36672	1.1	0.25848	N	0.98397	D	0.89917	1.0	D	0.87578	0.998	T	0.42699	-0.9436	10	0.87932	D	0	-6.2746	5.7817	0.18310	0.2485:0.0:0.7515:0.0	.	349	Q7Z434	MAVS_HUMAN	F	208;349	ENSP00000413749:L208F;ENSP00000401980:L349F	ENSP00000413749:L208F	L	+	3	2	MAVS	3793324	0.723000	0.28027	0.693000	0.30195	0.893000	0.52053	0.811000	0.27198	0.638000	0.30545	0.491000	0.48974	TTG		0.567	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077784.3		NM_020746		54	156	1	0	1.4374e-25	0.01441	1.82972e-25	54	156		
TMX4	56255	broad.mit.edu	37	20	7980425	7980425	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr20:7980425G>C	ENST00000246024.2	-	4	636	c.421C>G	c.(421-423)Caa>Gaa	p.Q141E	TMX4_ENST00000530935.1_5'UTR	NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	141					cell redox homeostasis (GO:0045454)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						TCGACTGATTGCCATTTCTTC	0.403																																						uc002wmx.1		NaN																	0					0						c.(421-423)CAA>GAA		thioredoxin-related transmembrane protein 4							53.0	55.0	55.0					20																	7980425		2203	4300	6503	SO:0001583	missense	56255				cell redox homeostasis|electron transport chain|transport	integral to membrane		g.chr20:7980425G>C		CCDS13101.1	20p12	2011-10-19	2009-02-23	2009-02-23	ENSG00000125827	ENSG00000125827		"""Protein disulfide isomerases"""	25237	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 14"""		"""thioredoxin domain containing 13"""	TXNDC13			Standard	NM_021156		Approved	DJ971N18.2, KIAA1162, PDIA14	uc002wmx.1	Q9H1E5	OTTHUMG00000031843	ENST00000246024.2:c.421C>G	20.37:g.7980425G>C	ENSP00000246024:p.Gln141Glu						p.Q141E	NM_021156	NP_066979	Q9H1E5	TMX4_HUMAN			4	554	-			141					Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8	Missense_Mutation	SNP	ENST00000246024.2	37	c.421C>G	CCDS13101.1	.	.	.	.	.	.	.	.	.	.	G	9.273	1.046288	0.19748	.	.	ENSG00000125827	ENST00000246024;ENST00000527925	T;T	0.41400	1.0;1.0	5.74	3.69	0.42338	Thioredoxin-like fold (1);	0.198433	0.42294	D	0.000740	T	0.23611	0.0571	L	0.29908	0.895	0.35671	D	0.813348	B	0.17852	0.024	B	0.15870	0.014	T	0.15407	-1.0438	10	0.05351	T	0.99	-13.6375	8.4676	0.32966	0.0:0.3354:0.5138:0.1507	.	141	Q9H1E5	TMX4_HUMAN	E	141;113	ENSP00000246024:Q141E;ENSP00000435735:Q113E	ENSP00000246024:Q141E	Q	-	1	0	TMX4	7928425	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.676000	0.54612	2.703000	0.92315	0.655000	0.94253	CAA		0.403	TMX4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000077928.2		NM_021156		18	54	0	0	0	0.006122	0	18	54		
FLRT3	23767	broad.mit.edu	37	20	14307612	14307612	+	Missense_Mutation	SNP	G	G	A	rs568696965		TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr20:14307612G>A	ENST00000378053.3	-	2	797	c.541C>T	c.(541-543)Cgc>Tgc	p.R181C	MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000462077.1_5'Flank|FLRT3_ENST00000341420.4_Missense_Mutation_p.R181C|MACROD2_ENST00000310348.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	181					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	extracellular space (GO:0005615)|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)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		TCATCCAAGCGTAGTTCTTCT	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		19886	0.0		0.0	False		,,,				2504	0.001					uc002wov.1		NaN																	0				kidney(1)	1						c.(541-543)CGC>TGC		fibronectin leucine rich transmembrane protein 3							99.0	97.0	98.0					20																	14307612		2203	4300	6503	SO:0001583	missense	23767				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr20:14307612G>A	AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848		"""Fibronectin type III domain containing"""	3762	protein-coding gene	gene with protein product		604808				10644439	Standard	NM_198391		Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.541C>T	20.37:g.14307612G>A	ENSP00000367292:p.Arg181Cys					MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Missense_Mutation_p.R181C	p.R181C	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)	3	1008	-		Colorectal(1;0.0464)	181			Extracellular (Potential).|LRR 6.		D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Missense_Mutation	SNP	ENST00000378053.3	37	c.541C>T	CCDS13121.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.716643	0.68844	.	.	ENSG00000125848	ENST00000378053;ENST00000341420;ENST00000541882	T;T	0.58210	0.35;0.35	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.71609	0.3360	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68123	-0.5492	10	0.48119	T	0.1	-8.2384	20.6208	0.99490	0.0:0.0:1.0:0.0	.	181	Q9NZU0	FLRT3_HUMAN	C	181	ENSP00000367292:R181C;ENSP00000339912:R181C	ENSP00000339912:R181C	R	-	1	0	FLRT3	14255612	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.894000	0.87336	2.882000	0.98803	0.655000	0.94253	CGC		0.458	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078075.1		NM_013281		23	145	0	0	0	0.01892	0	23	145		
RRBP1	6238	broad.mit.edu	37	20	17639309	17639309	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr20:17639309C>A	ENST00000377813.1	-	3	2147	c.1844G>T	c.(1843-1845)aGc>aTc	p.S615I	RRBP1_ENST00000360807.4_Missense_Mutation_p.S185I|RRBP1_ENST00000455029.2_Intron|RRBP1_ENST00000246043.4_Missense_Mutation_p.S615I|RRBP1_ENST00000377807.2_Missense_Mutation_p.S185I			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	615					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						TGCCTCTGGGCTCTGGGCCAC	0.493																																						uc002wpv.1		NaN																	0				ovary(1)	1						c.(553-555)AGC>ATC		ribosome binding protein 1							147.0	134.0	138.0					20																	17639309		2203	4300	6503	SO:0001583	missense	6238				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity	g.chr20:17639309C>A	AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.1844G>T	20.37:g.17639309C>A	ENSP00000367044:p.Ser615Ile					RRBP1_uc002wpu.2_5'UTR|RRBP1_uc002wpw.1_Missense_Mutation_p.S185I|RRBP1_uc010gcl.1_Intron	p.S185I	NM_001042576	NP_001036041	Q9P2E9	RRBP1_HUMAN			4	908	-			615			Cytoplasmic (Potential).		A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Missense_Mutation	SNP	ENST00000377813.1	37	c.554G>T		.	.	.	.	.	.	.	.	.	.	C	12.92	2.082769	0.36758	.	.	ENSG00000125844	ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.41	3.12	0.35913	.	0.000000	0.43110	D	0.000610	T	0.42108	0.1188	L	0.29908	0.895	0.80722	D	1	D	0.60160	0.987	P	0.52217	0.693	T	0.25502	-1.0130	10	0.44086	T	0.13	-17.2239	8.2189	0.31530	0.0:0.7686:0.0:0.2314	.	185	Q9P2E9-3	.	I	185;615;185;615	ENSP00000354045:S185I;ENSP00000367044:S615I;ENSP00000367038:S185I;ENSP00000246043:S615I	ENSP00000246043:S615I	S	-	2	0	RRBP1	17587309	0.976000	0.34144	1.000000	0.80357	0.089000	0.18198	0.174000	0.16743	1.448000	0.47680	-0.229000	0.12294	AGC		0.493	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1		NM_001042576		51	98	1	0	1.38909e-20	0.01441	1.69439e-20	51	98		
HCK	3055	broad.mit.edu	37	20	30672193	30672193	+	Splice_Site	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr20:30672193G>C	ENST00000520553.1	+	8	865		c.e8-1		HCK_ENST00000534862.1_Splice_Site|HCK_ENST00000375852.2_Splice_Site|HCK_ENST00000538448.1_Splice_Site|HCK_ENST00000518730.1_Splice_Site|HCK_ENST00000375862.2_Splice_Site	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase						cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	CTCTGTTCCAGAGGGGAACGA	0.597																																						uc002wxh.2		NaN																	0				lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1)	9						c.e8-1		hemopoietic cell kinase isoform p61HCK							36.0	34.0	35.0					20																	30672193		2203	4300	6503	SO:0001630	splice_region_variant	3055				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr20:30672193G>C	AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"""SH2 domain containing"""	4840	protein-coding gene	gene with protein product		142370	"""hemopoietic cell kinase"""			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.620-1G>C	20.37:g.30672193G>C						HCK_uc010gdy.2_Splice_Site_p.K207_splice|HCK_uc002wxi.2_Splice_Site_p.K206_splice	p.K228_splice	NM_002110	NP_002101	P08631	HCK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		8	854	+								A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Splice_Site	SNP	ENST00000520553.1	37	c.683_splice	CCDS54455.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.397063	0.42512	.	.	ENSG00000101336	ENST00000534862;ENST00000538448;ENST00000375862;ENST00000520553;ENST00000518730;ENST00000375852	.	.	.	4.44	4.44	0.53790	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.747	0.69496	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HCK	30135854	1.000000	0.71417	0.998000	0.56505	0.204000	0.24138	7.654000	0.83653	2.492000	0.84095	0.555000	0.69702	.		0.597	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000375751.1			Intron	12	26	0	0	0	0.010729	0	12	26		
HCK	3055	broad.mit.edu	37	20	30672279	30672279	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr20:30672279G>A	ENST00000520553.1	+	8	951	c.705G>A	c.(703-705)gaG>gaA	p.E235E	HCK_ENST00000534862.1_Silent_p.E236E|HCK_ENST00000375852.2_Silent_p.E256E|HCK_ENST00000538448.1_Silent_p.E235E|HCK_ENST00000518730.1_Silent_p.E234E|HCK_ENST00000375862.2_Silent_p.E255E	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	256	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	ATGCCTGGGAGATCCCTCGGG	0.602																																						uc002wxh.2		NaN																	0				lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1)	9						c.(766-768)GAG>GAA		hemopoietic cell kinase isoform p61HCK							59.0	61.0	60.0					20																	30672279		2203	4300	6503	SO:0001819	synonymous_variant	3055				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr20:30672279G>A	AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"""SH2 domain containing"""	4840	protein-coding gene	gene with protein product		142370	"""hemopoietic cell kinase"""			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.705G>A	20.37:g.30672279G>A						HCK_uc010gdy.2_Silent_p.E235E|HCK_uc002wxi.2_Silent_p.E234E	p.E256E	NM_002110	NP_002101	P08631	HCK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		8	939	+			256					A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Silent	SNP	ENST00000520553.1	37	c.768G>A	CCDS54455.1																																																																																				0.602	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000375751.1				30	84	0	0	0	0.009535	0	30	84		
CEP250	11190	broad.mit.edu	37	20	34085680	34085680	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr20:34085680G>A	ENST00000397527.1	+	26	4159	c.3439G>A	c.(3439-3441)Gcc>Acc	p.A1147T	CEP250_ENST00000342580.4_Missense_Mutation_p.A1091T	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1147	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GGCCCAGGAAGCCAAGGCAGC	0.662																																						uc002xcm.2		NaN																	0				ovary(4)|central_nervous_system(1)	5						c.(3439-3441)GCC>ACC		centrosomal protein 2							13.0	12.0	12.0					20																	34085680		2198	4287	6485	SO:0001583	missense	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34085680G>A	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.3439G>A	20.37:g.34085680G>A	ENSP00000380661:p.Ala1147Thr					CEP250_uc010zve.1_Missense_Mutation_p.A515T	p.A1147T	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		27	4110	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		1147			Gln/Glu-rich.|Potential.		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	c.3439G>A	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.794781	0.50102	.	.	ENSG00000126001	ENST00000397527;ENST00000342580	T;T	0.13307	2.65;2.6	4.51	-1.22	0.09494	.	0.500775	0.18220	N	0.147917	T	0.10723	0.0262	L	0.47716	1.5	0.25250	N	0.989687	B	0.26195	0.144	B	0.30251	0.113	T	0.37430	-0.9706	10	0.18276	T	0.48	.	8.3897	0.32520	0.4409:0.0:0.5591:0.0	.	1147	Q9BV73	CP250_HUMAN	T	1147;1091	ENSP00000380661:A1147T;ENSP00000341541:A1091T	ENSP00000341541:A1091T	A	+	1	0	CEP250	33549094	0.992000	0.36948	0.949000	0.38748	0.988000	0.76386	0.374000	0.20501	-0.390000	0.07774	-0.391000	0.06502	GCC		0.662	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7		NM_007186		14	10	0	0	0	0.016723	0	14	10		
CHD6	84181	broad.mit.edu	37	20	40033665	40033665	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr20:40033665C>G	ENST00000373233.3	-	37	7893	c.7716G>C	c.(7714-7716)aaG>aaC	p.K2572N	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2572					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GGCTACTCGGCTTGTCTTCCG	0.502																																						uc002xka.1		NaN																	0				ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14						c.(7714-7716)AAG>AAC		chromodomain helicase DNA binding protein 6							148.0	147.0	147.0					20																	40033665		2203	4300	6503	SO:0001583	missense	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40033665C>G	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.7716G>C	20.37:g.40033665C>G	ENSP00000362330:p.Lys2572Asn					CHD6_uc002xjz.1_Missense_Mutation_p.K109N	p.K2572N	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN			37	7894	-		Myeloproliferative disorder(115;0.00425)	2572					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.7716G>C	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.328440	0.24167	.	.	ENSG00000124177	ENST00000373233	D	0.86164	-2.08	5.46	3.42	0.39159	.	0.229811	0.30584	N	0.009307	T	0.76478	0.3993	L	0.44542	1.39	0.80722	D	1	P	0.38250	0.624	B	0.32864	0.154	T	0.71447	-0.4590	10	0.28530	T	0.3	-11.178	4.4843	0.11781	0.0:0.6057:0.0:0.3943	.	2572	Q8TD26	CHD6_HUMAN	N	2572	ENSP00000362330:K2572N	ENSP00000362330:K2572N	K	-	3	2	CHD6	39467079	0.997000	0.39634	0.997000	0.53966	0.540000	0.34992	0.441000	0.21611	1.544000	0.49359	0.655000	0.94253	AAG		0.502	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1				75	189	0	0	0	0.01441	0	75	189		
MATN4	8785	broad.mit.edu	37	20	43933116	43933116	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr20:43933116C>T	ENST00000372754.1	-	2	403	c.395G>A	c.(394-396)cGa>cAa	p.R132Q	MATN4_ENST00000353917.5_Missense_Mutation_p.R132Q|MATN4_ENST00000360607.6_Missense_Mutation_p.R132Q|RBPJL_ENST00000372743.1_5'Flank|RBPJL_ENST00000372741.3_5'Flank|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000342716.4_Missense_Mutation_p.R132Q|MATN4_ENST00000537548.1_Missense_Mutation_p.R132Q|MATN4_ENST00000372756.1_Missense_Mutation_p.R132Q|RBPJL_ENST00000343694.3_5'Flank			O95460	MATN4_HUMAN	matrilin 4	132	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				CTCTGGCGGTCGCGCGCCCTC	0.731																																						uc002xnn.2		NaN																	0					0						c.(394-396)CGA>CAA		matrilin 4 isoform 1 precursor							9.0	9.0	9.0					20																	43933116		2145	4205	6350	SO:0001583	missense	8785					extracellular region	protein binding	g.chr20:43933116C>T	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.395G>A	20.37:g.43933116C>T	ENSP00000361840:p.Arg132Gln					MATN4_uc002xno.2_Missense_Mutation_p.R132Q|MATN4_uc002xnp.2_Missense_Mutation_p.R132Q|MATN4_uc010zwr.1_Missense_Mutation_p.R80Q|MATN4_uc002xnr.1_Missense_Mutation_p.R132Q|RBPJL_uc002xns.2_5'Flank|RBPJL_uc002xnt.2_5'Flank	p.R132Q	NM_003833	NP_003824	O95460	MATN4_HUMAN			3	582	-		Myeloproliferative disorder(115;0.0122)	132			VWFA 1.		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Missense_Mutation	SNP	ENST00000372754.1	37	c.395G>A		.	.	.	.	.	.	.	.	.	.	C	28.1	4.890744	0.91889	.	.	ENSG00000124159	ENST00000372754;ENST00000372756;ENST00000353917;ENST00000360607;ENST00000342716;ENST00000537548;ENST00000255132	D;D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32;-2.32	4.81	4.81	0.61882	.	0.000000	0.44902	D	0.000415	D	0.95360	0.8494	H	0.94423	3.535	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.96578	0.9428	10	0.87932	D	0	.	17.0299	0.86458	0.0:1.0:0.0:0.0	.	132;132;132	A6NNA4;O95460-4;O95460-2	.;.;.	Q	132	ENSP00000361840:R132Q;ENSP00000361842:R132Q;ENSP00000243983:R132Q;ENSP00000353819:R132Q;ENSP00000343164:R132Q;ENSP00000440328:R132Q	ENSP00000255132:R132Q	R	-	2	0	MATN4	43366530	1.000000	0.71417	1.000000	0.80357	0.478000	0.33099	4.779000	0.62375	2.506000	0.84524	0.462000	0.41574	CGA		0.731	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1				6	19	0	0	0	0.001168	0	6	19		
ZMYND8	23613	broad.mit.edu	37	20	45912357	45912357	+	Silent	SNP	T	T	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr20:45912357T>C	ENST00000311275.7	-	9	1033	c.780A>G	c.(778-780)ctA>ctG	p.L260L	ZMYND8_ENST00000352431.2_Silent_p.L280L|ZMYND8_ENST00000446994.2_Silent_p.L197L|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000461685.1_Silent_p.L280L|ZMYND8_ENST00000396281.4_Silent_p.L260L|ZMYND8_ENST00000262975.4_Silent_p.L260L|ZMYND8_ENST00000536340.1_Silent_p.L287L|ZMYND8_ENST00000471951.2_Silent_p.L280L|ZMYND8_ENST00000360911.3_Silent_p.L255L|ZMYND8_ENST00000355972.4_Silent_p.L260L|ZMYND8_ENST00000540497.1_Silent_p.L255L|ZMYND8_ENST00000372023.3_Silent_p.L255L|ZMYND8_ENST00000458360.2_Silent_p.L255L	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	260					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GGCAAGCAGCTAGATAACATT	0.393																																						uc002xta.1		NaN																	0				central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5						c.(778-780)CTA>CTG		zinc finger, MYND-type containing 8 isoform b							155.0	127.0	136.0					20																	45912357		2202	4300	6502	SO:0001819	synonymous_variant	23613						protein binding|zinc ion binding	g.chr20:45912357T>C	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.780A>G	20.37:g.45912357T>C						ZMYND8_uc010ghr.1_Silent_p.L235L|ZMYND8_uc002xst.1_Silent_p.L235L|ZMYND8_uc002xsu.1_Silent_p.L260L|ZMYND8_uc002xsv.1_Silent_p.L235L|ZMYND8_uc002xsw.1_Silent_p.L12L|ZMYND8_uc002xsx.1_Silent_p.L12L|ZMYND8_uc002xsy.1_Silent_p.L235L|ZMYND8_uc002xsz.1_Silent_p.L197L|ZMYND8_uc010zxy.1_Silent_p.L287L|ZMYND8_uc002xtb.1_Silent_p.L280L|ZMYND8_uc002xss.2_Silent_p.L260L|ZMYND8_uc010zxz.1_Silent_p.L255L|ZMYND8_uc002xtc.1_Silent_p.L280L|ZMYND8_uc002xtd.1_Silent_p.L255L|ZMYND8_uc002xte.1_Silent_p.L260L|ZMYND8_uc010zya.1_Silent_p.L260L|ZMYND8_uc002xtf.1_Silent_p.L280L|ZMYND8_uc002xtg.2_Silent_p.L254L|ZMYND8_uc010ghs.1_Silent_p.L254L	p.L260L	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		9	1034	-			260					B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Silent	SNP	ENST00000311275.7	37	c.780A>G		.	.	.	.	.	.	.	.	.	.	T	10.53	1.375805	0.24857	.	.	ENSG00000101040	ENST00000467200	.	.	.	5.88	0.755	0.18415	.	.	.	.	.	T	0.45196	0.1330	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21724	-1.0237	4	.	.	.	-24.5902	3.5621	0.07887	0.2268:0.0631:0.1183:0.5918	.	.	.	.	G	187	.	.	S	-	1	0	ZMYND8	45345764	1.000000	0.71417	0.948000	0.38648	0.998000	0.95712	0.654000	0.24918	-0.137000	0.11455	0.454000	0.30748	AGC		0.393	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2		NM_183047		14	75	0	0	0	0.016723	0	14	75		
ZMYND8	23613	broad.mit.edu	37	20	45927519	45927519	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr20:45927519C>A	ENST00000311275.7	-	4	600	c.347G>T	c.(346-348)aGa>aTa	p.R116I	ZMYND8_ENST00000352431.2_Missense_Mutation_p.R136I|ZMYND8_ENST00000446994.2_Missense_Mutation_p.R91I|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000461685.1_Missense_Mutation_p.R136I|ZMYND8_ENST00000396281.4_Missense_Mutation_p.R116I|ZMYND8_ENST00000262975.4_Missense_Mutation_p.R116I|ZMYND8_ENST00000536340.1_Missense_Mutation_p.R143I|ZMYND8_ENST00000471951.2_Missense_Mutation_p.R136I|ZMYND8_ENST00000360911.3_Missense_Mutation_p.R111I|ZMYND8_ENST00000355972.4_Missense_Mutation_p.R116I|ZMYND8_ENST00000540497.1_Missense_Mutation_p.R111I|ZMYND8_ENST00000372023.3_Missense_Mutation_p.R111I|ZMYND8_ENST00000458360.2_Missense_Mutation_p.R111I	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	116					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CGATGTCAGTCTCAGACACTT	0.502																																						uc002xta.1		NaN																	0				central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5						c.(346-348)AGA>ATA		zinc finger, MYND-type containing 8 isoform b							102.0	77.0	86.0					20																	45927519		2203	4300	6503	SO:0001583	missense	23613						protein binding|zinc ion binding	g.chr20:45927519C>A	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.347G>T	20.37:g.45927519C>A	ENSP00000312237:p.Arg116Ile					ZMYND8_uc010ghr.1_Missense_Mutation_p.R91I|ZMYND8_uc002xst.1_Missense_Mutation_p.R91I|ZMYND8_uc002xsu.1_Missense_Mutation_p.R116I|ZMYND8_uc002xsv.1_Missense_Mutation_p.R91I|ZMYND8_uc002xsw.1_5'UTR|ZMYND8_uc002xsx.1_5'UTR|ZMYND8_uc002xsy.1_Missense_Mutation_p.R91I|ZMYND8_uc002xsz.1_Missense_Mutation_p.R91I|ZMYND8_uc010zxy.1_Missense_Mutation_p.R143I|ZMYND8_uc002xtb.1_Missense_Mutation_p.R136I|ZMYND8_uc002xss.2_Missense_Mutation_p.R116I|ZMYND8_uc010zxz.1_Missense_Mutation_p.R111I|ZMYND8_uc002xtc.1_Missense_Mutation_p.R136I|ZMYND8_uc002xtd.1_Missense_Mutation_p.R111I|ZMYND8_uc002xte.1_Missense_Mutation_p.R116I|ZMYND8_uc010zya.1_Missense_Mutation_p.R116I|ZMYND8_uc002xtf.1_Missense_Mutation_p.R136I|ZMYND8_uc002xtg.2_Missense_Mutation_p.R110I|ZMYND8_uc010ghs.1_Missense_Mutation_p.R110I|ZMYND8_uc002xth.2_Missense_Mutation_p.R136I	p.R116I	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		4	601	-			116			PHD-type.		B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37	c.347G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.8|29.8	5.035594|5.035594	0.93630|0.93630	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000467200|ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497;ENST00000435836	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.41065	.|1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01	6.11|6.11	5.09|5.09	0.68999|0.68999	.|Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Bromodomain (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	.|0.043909	.|0.85682	.|D	.|0.000000	T|T	0.37892|0.37892	0.1020|0.1020	N|N	0.17379|0.17379	0.485|0.485	0.58432|0.58432	D|D	0.999998|0.999998	.|D;P;P;D;P;D;B;D;P;B;D;D;D;D;B;P;P;P	.|0.58620	.|0.983;0.942;0.93;0.961;0.484;0.979;0.045;0.973;0.898;0.025;0.973;0.961;0.961;0.961;0.288;0.874;0.916;0.916	.|P;P;P;P;B;P;B;P;P;B;P;P;P;P;B;P;P;P	.|0.59825	.|0.82;0.6;0.811;0.864;0.431;0.811;0.066;0.713;0.622;0.066;0.713;0.811;0.864;0.811;0.334;0.466;0.637;0.637	T|T	0.33497|0.33497	-0.9866|-0.9866	5|10	.|0.72032	.|D	.|0.01	-14.5322|-14.5322	4.1066|4.1066	0.10040|0.10040	0.0:0.6983:0.0:0.3016|0.0:0.6983:0.0:0.3016	.|.	.|111;143;111;111;136;110;136;116;111;136;136;116;91;111;111;136;111;116	.|B7ZM62;F5H0X3;Q2HXV7;Q2HXV3;Q569J9;Q5JV90;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8	.|.;.;.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.	D|I	42|111;116;111;116;136;136;116;143;116;91;136;111;111;91	.|ENSP00000354166:R111I;ENSP00000312237:R116I;ENSP00000392964:R111I;ENSP00000262975:R116I;ENSP00000420095:R136I;ENSP00000335537:R136I;ENSP00000379577:R116I;ENSP00000439800:R143I;ENSP00000348246:R116I;ENSP00000396725:R91I;ENSP00000418210:R136I;ENSP00000361093:R111I;ENSP00000443086:R111I;ENSP00000413727:R91I	.|ENSP00000262975:R116I	E|R	-|-	3|2	2|0	ZMYND8|ZMYND8	45360926|45360926	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.213000|6.213000	0.72194|0.72194	2.906000|2.906000	0.99361|0.99361	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.502	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2		NM_183047		36	24	1	0	9.17885e-22	0.015359	1.13711e-21	36	24		
NFATC2	4773	broad.mit.edu	37	20	50048713	50048713	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr20:50048713G>A	ENST00000396009.3	-	9	2832	c.2613C>T	c.(2611-2613)agC>agT	p.S871S	NFATC2_ENST00000414705.1_Silent_p.S851S|NFATC2_ENST00000609507.1_Silent_p.S652S|NFATC2_ENST00000610033.1_Silent_p.S652S|NFATC2_ENST00000609943.1_Silent_p.S851S|NFATC2_ENST00000371564.3_Silent_p.S871S	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	871					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|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 negative regulation of transcription (GO:0001078)|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 transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CGGCTCTTTGGCTCGTGGCAT	0.592																																						uc002xwd.2		NaN																	0				ovary(2)	2						c.(2611-2613)AGC>AGT		nuclear factor of activated T-cells,							92.0	92.0	92.0					20																	50048713		2203	4300	6503	SO:0001819	synonymous_variant	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50048713G>A	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.2613C>T	20.37:g.50048713G>A						NFATC2_uc002xwc.2_Silent_p.S871S|NFATC2_uc010zyv.1_Silent_p.S652S|NFATC2_uc010zyw.1_Silent_p.S652S|NFATC2_uc010zyx.1_Silent_p.S851S|NFATC2_uc010zyy.1_Silent_p.S652S|NFATC2_uc010zyz.1_Silent_p.S652S|NFATC2_uc002xwe.2_Silent_p.S851S	p.S871S	NM_173091	NP_775114	Q13469	NFAC2_HUMAN			9	2833	-	Hepatocellular(150;0.248)		871					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Silent	SNP	ENST00000396009.3	37	c.2613C>T	CCDS13437.1																																																																																				0.592	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2		NM_012340		51	117	0	0	0	0.01441	0	51	117		
GATA5	140628	broad.mit.edu	37	20	61050567	61050567	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr20:61050567C>T	ENST00000252997.2	-	2	72	c.11G>A	c.(10-12)aGc>aAc	p.S4N	RP13-379O24.3_ENST00000606283.1_lincRNA	NM_080473.4	NP_536721.1	Q9BWX5	GATA5_HUMAN	GATA binding protein 5	4					blood coagulation (GO:0007596)|cellular response to BMP stimulus (GO:0071773)|intestinal epithelial cell differentiation (GO:0060575)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			kidney(1)|lung(3)|ovary(1)|stomach(1)	6	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;3.08e-06)			CAGCGCCAGGCTCTGGTACAT	0.716																																						uc002ycx.1		NaN																	0					0						c.(10-12)AGC>AAC		GATA binding protein 5							3.0	4.0	3.0					20																	61050567		1336	3058	4394	SO:0001583	missense	140628				blood coagulation|intestinal epithelial cell differentiation|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:61050567C>T	BC047790, BC117356	CCDS13499.1	20q13.33	2013-07-17	2001-11-28		ENSG00000130700	ENSG00000130700		"""GATA zinc finger domain containing"""	15802	protein-coding gene	gene with protein product		611496	"""GATA-binding protein 5"""			9566909	Standard	NM_080473		Approved	bB379O24.1, GATAS	uc002ycx.1	Q9BWX5	OTTHUMG00000032919	ENST00000252997.2:c.11G>A	20.37:g.61050567C>T	ENSP00000252997:p.Ser4Asn						p.S4N	NM_080473	NP_536721	Q9BWX5	GATA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.08e-06)		2	73	-	Breast(26;2.05e-08)		4					D9ZGF7|Q17RE2|Q86VU4	Missense_Mutation	SNP	ENST00000252997.2	37	c.11G>A	CCDS13499.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.855786	0.71834	.	.	ENSG00000130700	ENST00000370545;ENST00000540404;ENST00000252997	D	0.98732	-5.1	3.86	3.86	0.44501	GATA-type transcription activator, N-terminal (1);	0.048587	0.85682	D	0.000000	D	0.98444	0.9482	M	0.66939	2.045	0.31199	N	0.700011	D	0.61080	0.989	P	0.60236	0.871	D	0.97244	0.9893	10	0.49607	T	0.09	-8.7677	11.7589	0.51890	0.0:0.821:0.179:0.0	.	4	Q9BWX5	GATA5_HUMAN	N	4;24;4	ENSP00000252997:S4N	ENSP00000252997:S4N	S	-	2	0	GATA5	60483962	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	3.852000	0.55934	1.835000	0.53391	0.400000	0.26472	AGC		0.716	GATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080038.2		NM_080473		5	13	0	0	0	0.00308	0	5	13		
PTK6	5753	broad.mit.edu	37	20	62162261	62162261	+	Silent	SNP	C	C	T	rs188563979	byFrequency	TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr20:62162261C>T	ENST00000217185.2	-	6	879	c.852G>A	c.(850-852)ctG>ctA	p.L284L	PTK6_ENST00000542869.1_Silent_p.L183L	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	284	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|intestinal epithelial cell differentiation (GO:0060575)|negative regulation of growth (GO:0045926)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)		Vandetanib(DB05294)	CCGAAACGGGCAGGACTTTCT	0.622													C|||	4	0.000798722	0.0	0.0058	5008	,	,		16259	0.0		0.0	False		,,,				2504	0.0					uc002yfg.2		NaN																	0				stomach(1)|kidney(1)	2						c.(850-852)CTG>CTA		PTK6 protein tyrosine kinase 6							51.0	43.0	45.0					20																	62162261		2202	4300	6502	SO:0001819	synonymous_variant	5753					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr20:62162261C>T	U61412	CCDS13524.1, CCDS74750.1	20q13.3	2013-02-18	2013-02-18		ENSG00000101213	ENSG00000101213	2.7.10.1	"""SH2 domain containing"""	9617	protein-coding gene	gene with protein product		602004	"""PTK6 protein tyrosine kinase 6"""			8247543, 9284935	Standard	NM_005975		Approved	BRK	uc002yfg.4	Q13882	OTTHUMG00000033039	ENST00000217185.2:c.852G>A	20.37:g.62162261C>T						PTK6_uc011aay.1_Silent_p.L183L|PTK6_uc011aaz.1_Silent_p.L46L	p.L284L	NM_005975	NP_005966	Q13882	PTK6_HUMAN	Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)		6	892	-	all_cancers(38;2.51e-11)		284			Protein kinase.		B2RCR3|B4DW46|Q58F01	Silent	SNP	ENST00000217185.2	37	c.852G>A	CCDS13524.1																																																																																				0.622	PTK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080313.1				32	15	0	0	0	0.010818	0	32	15		
ARFRP1	10139	broad.mit.edu	37	20	62337724	62337724	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr20:62337724C>T	ENST00000359715.5	-	3	815	c.249G>A	c.(247-249)caG>caA	p.Q83Q	ARFRP1_ENST00000324228.2_Silent_p.Q83Q|ARFRP1_ENST00000609142.1_Silent_p.Q83Q|RP4-583P15.15_ENST00000490623.2_5'Flank|ARFRP1_ENST00000607873.1_Silent_p.Q36Q|ZGPAT_ENST00000357119.4_5'Flank|ZGPAT_ENST00000328969.5_5'Flank|ARFRP1_ENST00000440854.1_Silent_p.Q83Q|ZGPAT_ENST00000355969.6_5'Flank|ZGPAT_ENST00000448100.2_5'Flank|ZGPAT_ENST00000369967.3_5'Flank			Q13795	ARFRP_HUMAN	ADP-ribosylation factor related protein 1	83					gastrulation (GO:0007369)|Golgi to plasma membrane protein transport (GO:0043001)|GTP catabolic process (GO:0006184)|protein localization to Golgi apparatus (GO:0034067)|retrograde transport, endosome to Golgi (GO:0042147)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09)		Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102)			CCCACAAAGACTGCAGCTCTT	0.597																																						uc002yga.2		NaN																	0				breast(1)|skin(1)	2						c.(247-249)CAG>CAA		ADP-ribosylation factor related protein 1							141.0	117.0	125.0					20																	62337724		2203	4300	6503	SO:0001819	synonymous_variant	10139				small GTPase mediated signal transduction	Golgi apparatus|membrane fraction	GTP binding|GTPase activity	g.chr20:62337724C>T	X91504	CCDS13533.1, CCDS46630.1, CCDS68172.1, CCDS68173.1	20q13.3	2014-05-09			ENSG00000101246	ENSG00000101246		"""ADP-ribosylation factors"""	662	protein-coding gene	gene with protein product		604699				8530503	Standard	NM_003224		Approved	ARP, Arp1, ARL18	uc031rup.1	Q13795	OTTHUMG00000032993	ENST00000359715.5:c.249G>A	20.37:g.62337724C>T						ARFRP1_uc002ygc.2_Silent_p.Q83Q|ARFRP1_uc002ygh.3_Silent_p.Q83Q|ARFRP1_uc011abf.1_Silent_p.Q83Q|ARFRP1_uc011abg.1_Silent_p.Q83Q|ARFRP1_uc002yge.2_RNA|ARFRP1_uc002ygd.2_RNA|ARFRP1_uc002ygf.2_Silent_p.Q83Q|ARFRP1_uc002ygg.2_RNA|ARFRP1_uc011abh.1_RNA|ZGPAT_uc002ygi.2_5'Flank|ZGPAT_uc002ygj.2_5'Flank|ZGPAT_uc002ygk.2_5'Flank|ZGPAT_uc010gkk.1_5'Flank|ZGPAT_uc010gkl.1_5'Flank|ZGPAT_uc002ygm.2_5'Flank|ZGPAT_uc002ygn.3_5'Flank	p.Q83Q	NM_003224	NP_003215	Q13795	ARFRP_HUMAN	Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102)		3	816	-	all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09)		83					B7ZKX7|E1P5J9|Q6IBQ0	Silent	SNP	ENST00000359715.5	37	c.249G>A	CCDS13533.1																																																																																				0.597	ARFRP1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472024.1				86	218	0	0	0	0.01441	0	86	218		
RGS19	10287	broad.mit.edu	37	20	62705211	62705211	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr20:62705211C>A	ENST00000395042.1	-	6	915	c.649G>T	c.(649-651)Gcc>Tcc	p.A217S	RGS19_ENST00000332298.5_Missense_Mutation_p.A217S|RGS19_ENST00000493165.1_5'Flank	NM_005873.2	NP_005864.1	P49795	RGS19_HUMAN	regulator of G-protein signaling 19	217	Interaction with GIPC.				autophagy (GO:0006914)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	brush border (GO:0005903)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			lung(1)|prostate(1)|skin(1)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					GCGGCCTAGGCCTCGGAGGAG	0.667																																						uc002yhy.2		NaN																	0				skin(1)	1						c.(649-651)GCC>TCC		G protein signalling regulator 19							60.0	56.0	57.0					20																	62705211		2203	4300	6503	SO:0001583	missense	10287				autophagy|G-protein coupled receptor protein signaling pathway|negative regulation of signal transduction|small GTPase mediated signal transduction	Golgi apparatus|membrane fraction|plasma membrane	GTPase activator activity|protein binding|signal transducer activity	g.chr20:62705211C>A	X91809	CCDS13555.1	20q13.33	2007-08-14	2007-08-14		ENSG00000171700	ENSG00000171700		"""Regulators of G-protein signaling"""	13735	protein-coding gene	gene with protein product		605071	"""regulator of G-protein signalling 19"""			8524874	Standard	XM_005260183		Approved	GAIP, RGSGAIP	uc002yib.3	P49795	OTTHUMG00000033024	ENST00000395042.1:c.649G>T	20.37:g.62705211C>A	ENSP00000378483:p.Ala217Ser					RGS19_uc002yhz.2_Missense_Mutation_p.A195S|RGS19_uc002yia.2_Missense_Mutation_p.A217S|RGS19_uc002yib.2_Missense_Mutation_p.A217S	p.A217S	NM_005873	NP_005864	P49795	RGS19_HUMAN			6	916	-	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)		217			Interaction with GIPC.		A8K216|E1P5G9|Q53XN0|Q8TD60	Missense_Mutation	SNP	ENST00000395042.1	37	c.649G>T	CCDS13555.1	.	.	.	.	.	.	.	.	.	.	C	0.685	-0.796588	0.02862	.	.	ENSG00000171700	ENST00000395042;ENST00000332298	T;T	0.46819	0.86;0.86	5.5	2.16	0.27623	.	0.301681	0.19577	U	0.110943	T	0.20780	0.0500	N	0.08118	0	0.38819	D	0.955589	B	0.06786	0.001	B	0.04013	0.001	T	0.13656	-1.0501	10	0.06236	T	0.91	.	8.0109	0.30353	0.5205:0.2736:0.2059:0.0	.	217	P49795	RGS19_HUMAN	S	217	ENSP00000378483:A217S;ENSP00000333194:A217S	ENSP00000333194:A217S	A	-	1	0	RGS19	62175655	1.000000	0.71417	0.998000	0.56505	0.136000	0.21042	1.752000	0.38349	0.650000	0.30769	-0.293000	0.09583	GCC		0.667	RGS19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080273.1		NM_005873		68	33	1	0	9.21137e-24	0.01441	1.15142e-23	68	33		
ADAMTS5	11096	broad.mit.edu	37	21	28296648	28296649	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr21:28296648_28296649GG>TT	ENST00000284987.5	-	8	2637_2638	c.2516_2517CC>AA	c.(2515-2517)cCC>cAA	p.P839Q	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	839	Spacer.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						ATGGTTTAGTGGGGTCTGTTGC	0.45																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	uc002ymg.2		NaN																	0				upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						c.(2515-2517)CCC>CAA		ADAM metallopeptidase with thrombospondin type 1																																				SO:0001583	missense	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28296648_28296649GG>TT	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.2516_2517delinsTT	21.37:g.28296648_28296649delinsTT	ENSP00000284987:p.Pro839Gln						p.P839Q	NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN			8	3245_3246	-			839			Spacer.		Q52LV4|Q9UKP2	Missense_Mutation	DNP	ENST00000284987.5	37	c.2516_2517CC>AA	CCDS13579.1																																																																																				0.450	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1				55	99	0	0	0	0.004672	0	55	99		
HUNK	30811	broad.mit.edu	37	21	33297057	33297057	+	Missense_Mutation	SNP	C	C	T	rs373726863		TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr21:33297057C>T	ENST00000270112.2	+	2	899	c.539C>T	c.(538-540)gCc>gTc	p.A180V		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	180	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						CTGCACCGGGCCGGGGTGGTC	0.612																																						uc002yph.2		NaN																	0				stomach(1)|skin(1)	2						c.(538-540)GCC>GTC		hormonally upregulated Neu-associated kinase							53.0	57.0	55.0					21																	33297057		2203	4299	6502	SO:0001583	missense	30811				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity	g.chr21:33297057C>T	AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"""hormonally upregulated Neu-associated kinase"""			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.539C>T	21.37:g.33297057C>T	ENSP00000270112:p.Ala180Val						p.A180V	NM_014586	NP_055401	P57058	HUNK_HUMAN			2	899	+			180			Protein kinase.			Missense_Mutation	SNP	ENST00000270112.2	37	c.539C>T	CCDS13610.1	.	.	.	.	.	.	.	.	.	.	C	7.891	0.732414	0.15507	.	.	ENSG00000142149	ENST00000270112;ENST00000430354	T;T	0.66280	-0.2;-0.2	4.54	1.76	0.24704	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.259363	0.37136	N	0.002222	T	0.44307	0.1287	N	0.17800	0.525	0.54753	D	0.999981	B	0.15719	0.014	B	0.18871	0.023	T	0.29852	-0.9998	10	0.72032	D	0.01	-2.2951	9.2425	0.37504	0.0:0.7658:0.0:0.2342	.	180	P57058	HUNK_HUMAN	V	180;65	ENSP00000270112:A180V;ENSP00000411860:A65V	ENSP00000270112:A180V	A	+	2	0	HUNK	32218928	0.898000	0.30612	0.307000	0.25127	0.301000	0.27625	1.806000	0.38892	0.179000	0.19938	-0.259000	0.10710	GCC		0.612	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192782.1		NM_014586		59	66	0	0	0	0.01441	0	59	66		
MORC3	23515	broad.mit.edu	37	21	37721694	37721694	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr21:37721694C>A	ENST00000400485.1	+	9	1167	c.1091C>A	c.(1090-1092)aCt>aAt	p.T364N	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	364					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						TTCGACTATACTAATGAGTAC	0.328																																						uc002yvi.2		NaN																	0				ovary(2)	2						c.(1090-1092)ACT>AAT		MORC family CW-type zinc finger 3							75.0	72.0	73.0					21																	37721694		1817	4068	5885	SO:0001583	missense	23515				cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding	g.chr21:37721694C>A	AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"""zinc finger, CW-type with coiled-coil domain 3"", ""zinc finger, CW type with coiled-coil domain 3"""	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.1091C>A	21.37:g.37721694C>A	ENSP00000383333:p.Thr364Asn						p.T364N	NM_015358	NP_056173	Q14149	MORC3_HUMAN			9	1167	+			364					A8KA92|Q9UEZ2	Missense_Mutation	SNP	ENST00000400485.1	37	c.1091C>A	CCDS42924.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.978590	0.92982	.	.	ENSG00000159256	ENST00000400485	T	0.16897	2.31	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.34048	0.0884	M	0.71036	2.16	0.80722	D	1	P	0.46512	0.879	P	0.48901	0.594	T	0.03933	-1.0991	10	0.87932	D	0	-20.7297	20.0621	0.97678	0.0:1.0:0.0:0.0	.	364	Q14149	MORC3_HUMAN	N	364	ENSP00000383333:T364N	ENSP00000383333:T364N	T	+	2	0	MORC3	36643564	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	5.623000	0.67757	2.750000	0.94351	0.655000	0.94253	ACT		0.328	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1		NM_015358		17	20	1	0	1.99824e-07	0.00499	2.09645e-07	17	20		
LCA5L	150082	broad.mit.edu	37	21	40795035	40795035	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr21:40795035A>G	ENST00000358268.2	-	5	1232	c.704T>C	c.(703-705)tTa>tCa	p.L235S	LCA5L_ENST00000380671.2_Missense_Mutation_p.L235S|LCA5L_ENST00000485895.2_Missense_Mutation_p.L235S|LCA5L_ENST00000288350.3_Missense_Mutation_p.L235S			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	235										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				AGTCTTCAGTAACTGGCTGTC	0.353																																						uc002yxu.2		NaN																	0					0						c.(703-705)TTA>TCA		Leber congenital amaurosis 5-like							131.0	132.0	132.0					21																	40795035		2203	4300	6503	SO:0001583	missense	150082							g.chr21:40795035A>G	AF121781	CCDS13665.1	21q22.2	2007-12-18	2007-12-18	2007-12-18	ENSG00000157578	ENSG00000157578			1255	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 13"""	C21orf13			Standard	XM_005260926		Approved	MGC33295	uc002yxu.3	O95447	OTTHUMG00000066280	ENST00000358268.2:c.704T>C	21.37:g.40795035A>G	ENSP00000351008:p.Leu235Ser					LCA5L_uc002yxv.2_Missense_Mutation_p.L235S|LCA5L_uc002yxw.1_Missense_Mutation_p.L235S|LCA5L_uc002yxx.1_Missense_Mutation_p.L97S|LCA5L_uc002yxy.2_RNA	p.L235S	NM_152505	NP_689718	O95447	LCA5L_HUMAN			5	1017	-		Prostate(19;1.2e-06)	235			Potential.		D3DSI0|Q3ZCT0	Missense_Mutation	SNP	ENST00000358268.2	37	c.704T>C	CCDS13665.1	.	.	.	.	.	.	.	.	.	.	A	15.85	2.956050	0.53293	.	.	ENSG00000157578	ENST00000288350;ENST00000380671;ENST00000358268	D;D;D	0.81739	-1.53;-1.53;-1.53	5.06	5.06	0.68205	.	0.112220	0.40640	N	0.001053	D	0.89347	0.6689	M	0.77486	2.375	0.18873	N	0.999986	D	0.89917	1.0	D	0.91635	0.999	D	0.83361	0.0002	10	0.72032	D	0.01	-13.1492	15.1336	0.72545	1.0:0.0:0.0:0.0	.	235	O95447	LCA5L_HUMAN	S	235	ENSP00000288350:L235S;ENSP00000370046:L235S;ENSP00000351008:L235S	ENSP00000288350:L235S	L	-	2	0	LCA5L	39716905	0.747000	0.28283	0.007000	0.13788	0.559000	0.35586	6.571000	0.74000	2.037000	0.60232	0.533000	0.62120	TTA		0.353	LCA5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141807.2		NM_152505		39	55	0	0	0	0.007835	0	39	55		
TMPRSS2	7113	broad.mit.edu	37	21	42845396	42845396	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr21:42845396C>A	ENST00000332149.5	-	9	889	c.755G>T	c.(754-756)cGc>cTc	p.R252L	TMPRSS2_ENST00000458356.1_Missense_Mutation_p.R252L|TMPRSS2_ENST00000398585.3_Missense_Mutation_p.R289L	NM_005656.3	NP_005647.3	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	252					positive regulation of viral entry into host cell (GO:0046598)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				CCTGCTCTGGCGGCTTGAGTT	0.687			T	"""ERG, ETV1, ETV4, ETV5"""	prostate																																	uc002yzj.2		NaN		Dom	yes		21	21q22.3	7113	T	"""transmembrane protease, serine 2"""			E	ERG|ETV1|ETV4|ETV5		prostate 	TMPRSS2/ERG(2499)|TMPRSS2/ETV1(24)	0				prostate(2523)|central_nervous_system(1)	2524						c.(754-756)CGC>CTC		transmembrane protease, serine 2 isoform 2							21.0	20.0	21.0					21																	42845396		2181	4279	6460	SO:0001583	missense	7113				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:42845396C>A	U75329	CCDS33564.1, CCDS54486.1	21q22.3	2010-04-13			ENSG00000184012	ENSG00000184012		"""Serine peptidases / Transmembrane"""	11876	protein-coding gene	gene with protein product		602060				9325052	Standard	NM_005656		Approved	PRSS10	uc010gor.3	O15393	OTTHUMG00000086762	ENST00000332149.5:c.755G>T	21.37:g.42845396C>A	ENSP00000330330:p.Arg252Leu					TMPRSS2_uc010gor.2_Missense_Mutation_p.R289L|TMPRSS2_uc010gos.1_Missense_Mutation_p.R252L	p.R252L	NM_005656	NP_005647	O15393	TMPS2_HUMAN			9	889	-		Prostate(19;4.48e-07)|all_epithelial(19;0.031)	252			Extracellular (Potential).		A8K6Z8|B2R8E5|B7Z459|D3DSJ2|F8WES1|Q6GTK7|Q9BXX1	Missense_Mutation	SNP	ENST00000332149.5	37	c.755G>T	CCDS33564.1	.	.	.	.	.	.	.	.	.	.	C	6.753	0.507804	0.12883	.	.	ENSG00000184012	ENST00000332149;ENST00000398585;ENST00000458356;ENST00000454499;ENST00000424093	T;T;T;T;T	0.60797	0.29;0.29;0.29;0.29;0.16	4.9	-1.17	0.09648	Peptidase cysteine/serine, trypsin-like (1);	1.301090	0.05040	N	0.476211	T	0.31104	0.0786	N	0.08118	0	0.09310	N	1	B;B	0.16603	0.018;0.006	B;B	0.15870	0.014;0.014	T	0.11084	-1.0602	10	0.19147	T	0.46	.	2.7198	0.05197	0.3401:0.3235:0.0:0.3364	.	289;252	F8WES1;O15393	.;TMPS2_HUMAN	L	252;289;252;252;212	ENSP00000330330:R252L;ENSP00000381588:R289L;ENSP00000391216:R252L;ENSP00000389006:R252L;ENSP00000397846:R212L	ENSP00000330330:R252L	R	-	2	0	TMPRSS2	41767266	0.000000	0.05858	0.003000	0.11579	0.031000	0.12232	-0.512000	0.06313	-0.057000	0.13199	0.650000	0.86243	CGC		0.687	TMPRSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195189.1				5	12	1	0	3.45872e-05	0.004007	3.54168e-05	5	12		
ARVCF	421	broad.mit.edu	37	22	19965049	19965049	+	Missense_Mutation	SNP	G	G	T	rs377400693		TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr22:19965049G>T	ENST00000263207.3	-	9	2050	c.1759C>A	c.(1759-1761)Ccc>Acc	p.P587T	ARVCF_ENST00000406522.1_Missense_Mutation_p.P524T|ARVCF_ENST00000401994.1_Missense_Mutation_p.P524T|ARVCF_ENST00000344269.3_Missense_Mutation_p.P524T|ARVCF_ENST00000406259.1_Missense_Mutation_p.P587T	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	587					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					TCGGCCCCGGGCACCTCCTTG	0.677																																						uc002zqz.2		NaN																	0				liver(1)	1						c.(1759-1761)CCC>ACC		armadillo repeat protein							52.0	57.0	55.0					22																	19965049		2203	4300	6503	SO:0001583	missense	421				cell adhesion|multicellular organismal development		protein binding	g.chr22:19965049G>T		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"""Armadillo repeat containing"""	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.1759C>A	22.37:g.19965049G>T	ENSP00000263207:p.Pro587Thr					ARVCF_uc002zqy.2_Missense_Mutation_p.P109T	p.P587T	NM_001670	NP_001661	O00192	ARVC_HUMAN			9	2030	-	Colorectal(54;0.0993)		587			ARM 6.		B7WNV2	Missense_Mutation	SNP	ENST00000263207.3	37	c.1759C>A	CCDS13771.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.657478	0.88154	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22	4.05	4.05	0.47172	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.89030	0.6599	M	0.87971	2.92	0.80722	D	1	D;D	0.76494	0.999;0.996	D;P	0.73380	0.98;0.835	D	0.90594	0.4539	9	.	.	.	-15.7028	17.1156	0.86688	0.0:0.0:1.0:0.0	.	587;109	O00192;E7EV58	ARVC_HUMAN;.	T	587;524;524;524;587	ENSP00000263207:P587T;ENSP00000342042:P524T;ENSP00000384341:P524T;ENSP00000384732:P524T;ENSP00000385444:P587T	.	P	-	1	0	ARVCF	18345049	1.000000	0.71417	0.996000	0.52242	0.950000	0.60333	7.674000	0.83992	2.549000	0.85964	0.563000	0.77884	CCC		0.677	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5		NM_001670		62	67	1	0	2.17656e-39	0.01441	2.96803e-39	62	67		
RAB36	9609	broad.mit.edu	37	22	23495282	23495282	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr22:23495282A>G	ENST00000263116.2	+	5	528	c.488A>G	c.(487-489)gAg>gGg	p.E163G	RAB36_ENST00000341989.4_Missense_Mutation_p.E141G	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	163					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		TTTGAAATTGAGCGCTTTGAG	0.507																																						uc002zwv.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(487-489)GAG>GGG		RAB36, member RAS oncogene family							236.0	222.0	227.0					22																	23495282		2203	4300	6503	SO:0001583	missense	9609				protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding	g.chr22:23495282A>G	AB023061	CCDS13805.1	22q11.22	2008-06-11			ENSG00000100228	ENSG00000100228		"""RAB, member RAS oncogene"""	9775	protein-coding gene	gene with protein product		605662				9920784, 10591208	Standard	NM_004914		Approved		uc002zwv.1	O95755	OTTHUMG00000150601	ENST00000263116.2:c.488A>G	22.37:g.23495282A>G	ENSP00000263116:p.Glu163Gly					RAB36_uc010gtw.1_Missense_Mutation_p.E141G	p.E163G	NM_004914	NP_004905	O95755	RAB36_HUMAN		READ - Rectum adenocarcinoma(21;0.155)	5	528	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		163					Q2M390|Q7Z4A9|Q9UHP5	Missense_Mutation	SNP	ENST00000263116.2	37	c.488A>G	CCDS13805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	32|32	5.135264|5.135264	0.94517|0.94517	.|.	.|.	ENSG00000100228|ENSG00000100228	ENST00000263116;ENST00000341989|ENST00000420895	T;T|.	0.77620|.	-1.11;-1.11|.	5.53|5.53	5.53|5.53	0.82687|0.82687	Small GTP-binding protein domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.62913|.	0.2467|.	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.998|.	T|.	0.60642|.	-0.7223|.	10|.	0.87932|.	D|.	0|.	-50.1917|-50.1917	13.9174|13.9174	0.63908|0.63908	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	141;163|.	O95755-2;O95755|.	.;RAB36_HUMAN|.	G|W	163;141|57	ENSP00000263116:E163G;ENSP00000343494:E141G|.	ENSP00000263116:E163G|.	E|X	+|+	2|3	0|0	RAB36|RAB36	21825282|21825282	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	6.673000|6.673000	0.74482|0.74482	2.241000|2.241000	0.73720|0.73720	0.533000|0.533000	0.62120|0.62120	GAG|TGA		0.507	RAB36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319046.1		NM_004914		69	98	0	0	0	0.01441	0	69	98		
BCR	613	broad.mit.edu	37	22	23626223	23626223	+	Silent	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr22:23626223G>C	ENST00000305877.8	+	9	2926	c.2175G>C	c.(2173-2175)ctG>ctC	p.L725L	BCR_ENST00000359540.3_Silent_p.L725L	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	725	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	CCCGCAAGCTGCGCCACGTCT	0.657			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""																																	uc002zww.2		NaN		Dom	yes		22	22q11.21	613	T	breakpoint cluster region			L	ABL1| FGFR1|JAK2 		CML|ALL|AML	BCR/JAK2(6)	0				haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(3)|urinary_tract(1)|lung(1)|skin(1)	12						c.(2173-2175)CTG>CTC		breakpoint cluster region isoform 1							37.0	34.0	35.0					22																	23626223		2202	4299	6501	SO:0001819	synonymous_variant	613				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr22:23626223G>C		CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.2175G>C	22.37:g.23626223G>C						BCR_uc002zwx.2_Silent_p.L725L|BCR_uc011aiy.1_Silent_p.L314L|BCR_uc010gtx.1_Silent_p.L192L|BCR_uc002zwy.1_Silent_p.L11L	p.L725L	NM_004327	NP_004318	P11274	BCR_HUMAN			9	2771	+			725			PH.		P78501|Q12842|Q4LE80|Q6NZI3	Silent	SNP	ENST00000305877.8	37	c.2175G>C	CCDS13806.1																																																																																				0.657	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075819.1		NM_004327		4	10	0	0	0	0.009096	0	4	10		
MTMR3	8897	broad.mit.edu	37	22	30416019	30416019	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr22:30416019G>T	ENST00000401950.2	+	17	2713	c.2371G>T	c.(2371-2373)Gtc>Ttc	p.V791F	CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000323630.5_Missense_Mutation_p.V655F|MTMR3_ENST00000351488.3_Missense_Mutation_p.V791F|MTMR3_ENST00000406629.1_Missense_Mutation_p.V791F|MTMR3_ENST00000333027.3_Missense_Mutation_p.V791F|CTA-85E5.10_ENST00000453743.2_RNA	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	791					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TTCCCTGGAGGTCCCTGTGGA	0.537																																						uc003agv.3		NaN																	0				breast(3)|ovary(1)|skin(1)	5						c.(2371-2373)GTC>TTC		myotubularin-related protein 3 isoform c							75.0	78.0	77.0					22																	30416019		2203	4300	6503	SO:0001583	missense	8897				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:30416019G>T	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.2371G>T	22.37:g.30416019G>T	ENSP00000384651:p.Val791Phe					MTMR3_uc003agu.3_Missense_Mutation_p.V791F|MTMR3_uc003agw.3_Missense_Mutation_p.V791F	p.V791F	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		17	2699	+			791					A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	ENST00000401950.2	37	c.2371G>T	CCDS13870.1	.	.	.	.	.	.	.	.	.	.	G	0.033	-1.321633	0.01320	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000323630;ENST00000351488;ENST00000406629	D;D;D;D;D	0.94232	-3.17;-3.15;-3.38;-3.2;-3.15	4.75	0.0543	0.14310	.	2.823470	0.00735	N	0.000964	D	0.86977	0.6063	N	0.24115	0.695	0.09310	N	1	P;B;P	0.36909	0.573;0.087;0.573	B;B;B	0.33521	0.165;0.049;0.165	T	0.78917	-0.2015	10	0.48119	T	0.1	.	4.5601	0.12156	0.3673:0.1533:0.4794:0.0	.	791;791;791	Q13615-3;Q13615;Q13615-2	.;MTMR3_HUMAN;.	F	791;791;655;791;791	ENSP00000384651:V791F;ENSP00000331649:V791F;ENSP00000318070:V655F;ENSP00000307271:V791F;ENSP00000384077:V791F	ENSP00000318070:V655F	V	+	1	0	MTMR3	28746019	0.018000	0.18449	0.002000	0.10522	0.020000	0.10135	1.954000	0.40362	0.003000	0.14656	-1.087000	0.02190	GTC		0.537	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1		NM_021090		45	64	1	0	6.4771e-29	0.010771	8.51846e-29	45	64		
RNF215	200312	broad.mit.edu	37	22	30780398	30780398	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr22:30780398C>T	ENST00000382363.3	-	5	748	c.674G>A	c.(673-675)gGc>gAc	p.G225D		NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN	ring finger protein 215	225						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						CTTGGAGAGGCCACAGGTGGT	0.602																																						uc003ahp.2		NaN																	0				central_nervous_system(1)	1						c.(673-675)GGC>GAC		ring finger protein 215							117.0	94.0	102.0					22																	30780398		2203	4300	6503	SO:0001583	missense	200312					integral to membrane	zinc ion binding	g.chr22:30780398C>T		CCDS33633.1	22q12.2	2013-01-09			ENSG00000099999	ENSG00000099999		"""RING-type (C3HC4) zinc fingers"""	33434	protein-coding gene	gene with protein product							Standard	NM_001017981		Approved		uc003ahp.3	Q9Y6U7	OTTHUMG00000151016	ENST00000382363.3:c.674G>A	22.37:g.30780398C>T	ENSP00000371800:p.Gly225Asp					RNF215_uc011akw.1_Missense_Mutation_p.G130D	p.G225D	NM_001017981	NP_001017981	Q9Y6U7	RN215_HUMAN			5	674	-			225			Extracellular (Potential).		A6NEL1	Missense_Mutation	SNP	ENST00000382363.3	37	c.674G>A	CCDS33633.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.4|26.4	4.736120|4.736120	0.89482|0.89482	.|.	.|.	ENSG00000099999|ENSG00000099999	ENST00000382363|ENST00000215798	T|.	0.40476|.	1.03|.	4.67|4.67	4.67|4.67	0.58626|0.58626	.|.	0.124269|.	0.53938|.	D|.	0.000045|.	T|.	0.55893|.	0.1949|.	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.74674|.	0.984|.	T|.	0.51911|.	-0.8645|.	10|.	0.66056|.	D|.	0.02|.	-9.7776|-9.7776	14.4017|14.4017	0.67050|0.67050	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	225|.	Q9Y6U7|.	RN215_HUMAN|.	D|X	225|162	ENSP00000371800:G225D|.	ENSP00000371800:G225D|.	G|W	-|-	2|3	0|0	RNF215|RNF215	29110398|29110398	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	4.204000|4.204000	0.58460|0.58460	2.410000|2.410000	0.81850|0.81850	0.561000|0.561000	0.74099|0.74099	GGC|TGG		0.602	RNF215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320960.1		NM_001017981		42	45	0	0	0	0.009718	0	42	45		
SMTN	6525	broad.mit.edu	37	22	31491427	31491427	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr22:31491427G>A	ENST00000347557.2	+	12	1989	c.1771G>A	c.(1771-1773)Gtc>Atc	p.V591I	SMTN_ENST00000404574.1_Missense_Mutation_p.V190I|SMTN_ENST00000333137.7_Missense_Mutation_p.V591I|SMTN_ENST00000358743.1_Missense_Mutation_p.V591I	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	591					muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GGATGAAGGAGTCTTGGACAA	0.582																																						uc003ajl.1		NaN																	0				large_intestine(2)|pancreas(1)	3						c.(1771-1773)GTC>ATC		smoothelin isoform c							82.0	80.0	80.0					22																	31491427		2203	4300	6503	SO:0001583	missense	6525				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle	g.chr22:31491427G>A	AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.1771G>A	22.37:g.31491427G>A	ENSP00000328635:p.Val591Ile					SMTN_uc003ajk.1_Missense_Mutation_p.V591I|SMTN_uc003ajm.1_Missense_Mutation_p.V591I|SMTN_uc011ale.1_Missense_Mutation_p.V676I|SMTN_uc011alf.1_Missense_Mutation_p.V647I|SMTN_uc003ajn.1_Missense_Mutation_p.V614I|SMTN_uc011alg.1_Missense_Mutation_p.V47I|SMTN_uc003ajo.1_Missense_Mutation_p.V190I|SMTN_uc011alh.1_RNA|SMTN_uc010gwe.1_Missense_Mutation_p.V47I	p.V591I	NM_006932	NP_008863	P53814	SMTN_HUMAN			12	1989	+			591					O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Missense_Mutation	SNP	ENST00000347557.2	37	c.1771G>A	CCDS13886.1	.	.	.	.	.	.	.	.	.	.	G	2.135	-0.398146	0.04865	.	.	ENSG00000183963	ENST00000358743;ENST00000347557;ENST00000333137;ENST00000329852;ENST00000404496;ENST00000455608;ENST00000404574;ENST00000403419	T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57	4.98	-1.47	0.08772	.	0.781270	0.10512	N	0.665983	T	0.33789	0.0875	N	0.13043	0.29	0.80722	D	1	B;B;B;B;B;B;B;B	0.30326	0.005;0.005;0.0;0.276;0.008;0.002;0.008;0.002	B;B;B;B;B;B;B;B	0.32393	0.032;0.032;0.005;0.145;0.026;0.02;0.026;0.011	T	0.08554	-1.0716	10	0.42905	T	0.14	-18.2607	10.4408	0.44464	0.3218:0.0:0.6782:0.0	.	647;676;47;190;614;591;591;591	E7ETT8;B4E229;B5MBZ4;B5MCI0;B5MC56;E7EWD0;P53814;P53814-5	.;.;.;.;.;.;SMTN_HUMAN;.	I	591;591;591;589;614;68;190;47	ENSP00000351593:V591I;ENSP00000328635:V591I;ENSP00000329532:V591I;ENSP00000392329:V68I;ENSP00000383919:V190I	ENSP00000329393:V589I	V	+	1	0	SMTN	29821427	0.102000	0.21896	0.025000	0.17156	0.010000	0.07245	0.307000	0.19296	-0.201000	0.10284	0.561000	0.74099	GTC		0.582	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1		NM_134270		24	26	0	0	0	0.004656	0	24	26		
NCF4	4689	broad.mit.edu	37	22	37266564	37266564	+	Silent	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr22:37266564C>G	ENST00000248899.6	+	5	634	c.450C>G	c.(448-450)ctC>ctG	p.L150L	NCF4_ENST00000397147.4_Silent_p.L150L|CTA-833B7.2_ENST00000431290.1_RNA|CTA-833B7.2_ENST00000330602.2_RNA	NM_000631.4	NP_000622.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	150					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|positive regulation of catalytic activity (GO:0043085)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|membrane (GO:0016020)|NADPH oxidase complex (GO:0043020)|phagolysosome (GO:0032010)	phosphatidylinositol-3-phosphate binding (GO:0032266)|protein dimerization activity (GO:0046983)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16					Dextromethorphan(DB00514)	TCCGCCGGCTCCGCCCGCGCA	0.617																																						uc003apy.3		NaN																	0				ovary(1)	1						c.(448-450)CTC>CTG		neutrophil cytosolic factor 4 isoform 1							58.0	56.0	56.0					22																	37266564		2203	4300	6503	SO:0001819	synonymous_variant	4689				cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity	g.chr22:37266564C>G	X77094	CCDS13934.1, CCDS13935.1	22q13.1	2014-09-17	2002-08-29		ENSG00000100365	ENSG00000100365			7662	protein-coding gene	gene with protein product	"""neutrophil NADPH oxidase factor 4"""	601488	"""neutrophil cytosolic factor 4 (40kD)"""			8839867	Standard	NM_013416		Approved	p40phox, SH3PXD4	uc003apy.4	Q15080	OTTHUMG00000150548	ENST00000248899.6:c.450C>G	22.37:g.37266564C>G						NCF4_uc003apz.3_Silent_p.L150L	p.L150L	NM_000631	NP_000622	Q15080	NCF4_HUMAN			5	634	+			150					A8K4F9|O60808|Q86U56|Q9BU98|Q9NP45	Silent	SNP	ENST00000248899.6	37	c.450C>G	CCDS13934.1																																																																																				0.617	NCF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318863.1		NM_000631		33	54	0	0	0	0.006999	0	33	54		
PNPLA3	80339	broad.mit.edu	37	22	44332964	44332964	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr22:44332964C>T	ENST00000216180.3	+	6	964	c.791C>T	c.(790-792)tCa>tTa	p.S264L	PNPLA3_ENST00000423180.2_Missense_Mutation_p.S260L	NM_025225.2	NP_079501.2	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	264					acylglycerol acyl-chain remodeling (GO:0036155)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	diolein transacylation activity (GO:0051265)|mono-olein transacylation activity (GO:0051264)|phospholipase A2 activity (GO:0004623)|triglyceride lipase activity (GO:0004806)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				GGCCTGAAGTCATCCTCAGAA	0.602																																						uc003bei.1		NaN																	0					0						c.(790-792)TCA>TTA		patatin-like phospholipase domain containing 3							74.0	63.0	67.0					22																	44332964		2203	4300	6503	SO:0001583	missense	80339				triglyceride biosynthetic process|triglyceride catabolic process	integral to membrane	diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity	g.chr22:44332964C>T		CCDS14054.1	22q13.31	2014-03-14	2006-05-26	2006-05-26	ENSG00000100344	ENSG00000100344	3.1.1.3	"""Patatin-like phospholipase domain containing"""	18590	protein-coding gene	gene with protein product		609567	"""chromosome 22 open reading frame 20"", ""adiponutrin"""	C22orf20, ADPN		16799181, 19029121	Standard	NM_025225		Approved	dJ796I17.1, FLJ22012, adiponutrin, iPLA2epsilon	uc003bei.1	Q9NST1	OTTHUMG00000150555	ENST00000216180.3:c.791C>T	22.37:g.44332964C>T	ENSP00000216180:p.Ser264Leu					PNPLA3_uc010gzm.1_RNA	p.S264L	NM_025225	NP_079501	Q9NST1	PLPL3_HUMAN			6	964	+		Ovarian(80;0.024)|all_neural(38;0.0416)	264			Lumenal (Potential).		B0QYI0|B2RCL3|B3KW00|Q6P1A1|Q96CB4	Missense_Mutation	SNP	ENST00000216180.3	37	c.791C>T	CCDS14054.1	.	.	.	.	.	.	.	.	.	.	C	2.058	-0.416062	0.04766	.	.	ENSG00000100344	ENST00000216180;ENST00000423180	T;T	0.28454	1.61;1.61	5.34	-3.66	0.04489	.	1.126760	0.07043	N	0.830524	T	0.06600	0.0169	N	0.00436	-1.5	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.41378	-0.9512	10	0.02654	T	1	-2.3795	9.0042	0.36102	0.0:0.5883:0.1501:0.2617	.	264	Q9NST1	PLPL3_HUMAN	L	264;260	ENSP00000216180:S264L;ENSP00000397987:S260L	ENSP00000216180:S264L	S	+	2	0	PNPLA3	42664297	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.009000	0.13219	-0.367000	0.08052	-0.379000	0.06801	TCA		0.602	PNPLA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318891.1		NM_025225		23	36	0	0	0	0.016522	0	23	36		
KIAA0930	23313	broad.mit.edu	37	22	45601541	45601541	+	Silent	SNP	C	C	T	rs561694948		TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr22:45601541C>T	ENST00000336156.5	-	4	449	c.384G>A	c.(382-384)ggG>ggA	p.G128G	KIAA0930_ENST00000474515.1_5'Flank|KIAA0930_ENST00000251993.7_Silent_p.G133G|KIAA0930_ENST00000443310.3_Silent_p.G110G|KIAA0930_ENST00000391627.2_Silent_p.G94G	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	128										endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						TGTGAATGTCCCCGCCGTCAG	0.612																																						uc003bfx.1		NaN																	0					0						c.(382-384)GGG>GGA		hypothetical protein LOC23313 isoform b							86.0	77.0	80.0					22																	45601541		2203	4300	6503	SO:0001819	synonymous_variant	23313						protein binding	g.chr22:45601541C>T	AK025608	CCDS33665.1, CCDS33666.1	22q13.31	2011-02-23	2011-02-23	2011-02-23	ENSG00000100364	ENSG00000100364			1314	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 9"""	C22orf9		10231032	Standard	NM_015264		Approved	bK268H5.C22.1	uc003bfw.1	Q6ICG6	OTTHUMG00000151263	ENST00000336156.5:c.384G>A	22.37:g.45601541C>T						C22orf9_uc010gzw.1_Intron|C22orf9_uc003bfv.1_Silent_p.G137G|C22orf9_uc003bfw.1_Silent_p.G133G|C22orf9_uc010gzx.2_Silent_p.G110G	p.G128G	NM_001009880	NP_001009880	Q6ICG6	K0930_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|READ - Rectum adenocarcinoma(1;0.000617)|Colorectal(1;0.0024)	4	450	-		Ovarian(80;0.00965)|all_neural(38;0.0244)	128					B0QY17|B0QY19|B3KT48|Q6ZVE5|Q7Z6K9|Q8IZ76|Q9Y2E2	Silent	SNP	ENST00000336156.5	37	c.384G>A	CCDS33665.1																																																																																				0.612	KIAA0930-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321975.2		NM_001009880		29	43	0	0	0	0.009535	0	29	43		
TUBGCP6	85378	broad.mit.edu	37	22	50658876	50658876	+	Silent	SNP	T	T	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr22:50658876T>C	ENST00000248846.5	-	16	4016	c.3912A>G	c.(3910-3912)tcA>tcG	p.S1304S	TUBGCP6_ENST00000439308.2_Silent_p.S1304S|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1304					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GGCTGAGCGCTGACTGGGACG	0.682																																						uc003bkb.1		NaN																	0				ovary(2)|central_nervous_system(2)	4						c.(3910-3912)TCA>TCG		tubulin, gamma complex associated protein 6							17.0	20.0	19.0					22																	50658876		2202	4294	6496	SO:0001819	synonymous_variant	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50658876T>C	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.3912A>G	22.37:g.50658876T>C						TUBGCP6_uc003bka.1_Silent_p.S391S|TUBGCP6_uc010har.1_Silent_p.S1296S|TUBGCP6_uc010has.1_RNA	p.S1304S	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	16	4424	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1304					Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Silent	SNP	ENST00000248846.5	37	c.3912A>G	CCDS14087.1																																																																																				0.682	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3		NM_020461		15	26	0	0	0	0.004007	0	15	26		
MAPK12	6300	broad.mit.edu	37	22	50694610	50694610	+	Missense_Mutation	SNP	C	C	G	rs535912053	byFrequency	TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr22:50694610C>G	ENST00000215659.8	-	7	838	c.523G>C	c.(523-525)Gcc>Ccc	p.A175P	MAPK12_ENST00000497036.1_5'UTR|MAPK12_ENST00000395780.1_Missense_Mutation_p.A85P	NM_002969.3	NP_002960.2	P53778	MK12_HUMAN	mitogen-activated protein kinase 12	175	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle arrest (GO:0007050)|DNA damage induced protein phosphorylation (GO:0006975)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|myoblast differentiation (GO:0045445)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of peptidase activity (GO:0010952)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCCTGCCTGGCCAGGCCGAAG	0.637													C|||	2	0.000399361	0.0	0.0	5008	,	,		17980	0.0		0.0	False		,,,				2504	0.002					uc003bkm.1		NaN																	0					0						c.(523-525)GCC>CCC		mitogen-activated protein kinase 12							47.0	48.0	48.0					22																	50694610		2203	4297	6500	SO:0001583	missense	6300				cell cycle arrest|DNA damage induced protein phosphorylation|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction	mitochondrion|nucleoplasm	ATP binding|magnesium ion binding|MAP kinase activity|protein binding	g.chr22:50694610C>G	U66243	CCDS14089.1	22q13.3	2012-05-08			ENSG00000188130	ENSG00000188130	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6874	protein-coding gene	gene with protein product		602399		SAPK3		9169156	Standard	NM_002969		Approved	ERK6, PRKM12, p38gamma, SAPK-3	uc003bkm.1	P53778	OTTHUMG00000030145	ENST00000215659.8:c.523G>C	22.37:g.50694610C>G	ENSP00000215659:p.Ala175Pro					MAPK12_uc003bkn.2_5'UTR|MAPK12_uc003bko.2_Missense_Mutation_p.A85P|MAPK12_uc003bkl.1_Missense_Mutation_p.A165P|MAPK12_uc003bkp.2_5'Flank|MAPK12_uc003bkq.2_5'UTR	p.A175P	NM_002969	NP_002960	P53778	MK12_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	7	674	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	175			Protein kinase.		Q14260|Q6IC53|Q99588|Q99672	Missense_Mutation	SNP	ENST00000215659.8	37	c.523G>C	CCDS14089.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.745668	0.89663	.	.	ENSG00000188130	ENST00000438835;ENST00000395780;ENST00000215659	T;T	0.29917	1.55;1.55	4.41	4.41	0.53225	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	0.33772	U	0.004567	T	0.68035	0.2957	H	0.95645	3.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.996	T	0.80231	-0.1468	10	0.87932	D	0	-24.4182	17.1971	0.86895	0.0:1.0:0.0:0.0	.	85;175;165	B5MDL5;P53778;F6TXG5	.;MK12_HUMAN;.	P	165;85;175	ENSP00000379126:A85P;ENSP00000215659:A175P	ENSP00000215659:A175P	A	-	1	0	MAPK12	49036737	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	5.713000	0.68415	2.289000	0.77006	0.561000	0.74099	GCC		0.637	MAPK12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074999.2		NM_002969		27	46	0	0	0	0.005443	0	27	46		
MAPK8IP2	23542	broad.mit.edu	37	22	51044009	51044009	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr22:51044009G>T	ENST00000399908.2	+	5	1779	c.1063G>T	c.(1063-1065)Gac>Tac	p.D355Y	MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.D326Y|MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.D241Y|MAPK8IP2_ENST00000399912.1_Missense_Mutation_p.D355Y|MAPK8IP2_ENST00000442429.2_Missense_Mutation_p.D343Y|MAPK8IP2_ENST00000329492.3_Missense_Mutation_p.D620Y	NM_016431.3	NP_057515.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	621	Necessary for interaction with FGF13.				behavioral fear response (GO:0001662)|dendrite morphogenesis (GO:0048813)|MAPK cascade (GO:0000165)|nonassociative learning (GO:0046958)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of signal transduction (GO:0009967)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of JNK cascade (GO:0046328)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of receptor activity (GO:0010469)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal complex assembly (GO:0007172)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|neuronal postsynaptic density (GO:0097481)	beta-amyloid binding (GO:0001540)|kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCGGCATCCAGACGAGCTGGA	0.652																																						uc003bmx.2		NaN																	0				large_intestine(2)|central_nervous_system(1)	3						c.(1861-1863)GAC>TAC		mitogen-activated protein kinase 8 interacting							26.0	32.0	30.0					22																	51044009		2053	4194	6247	SO:0001583	missense	23542				behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding	g.chr22:51044009G>T	AL021708	CCDS74886.1	22q13.33	2010-04-06			ENSG00000008735	ENSG00000008735			6883	protein-coding gene	gene with protein product	"""islet-brain 2"", ""JNK-interacting protein 2"""	607755	"""PRKM8 interacting protein-like"""	PRKM8IPL		10490659	Standard	NM_012324		Approved	IB2, JIP2	uc003bmy.3	Q13387	OTTHUMG00000150181	ENST00000399908.2:c.1063G>T	22.37:g.51044009G>T	ENSP00000382792:p.Asp355Tyr					MAPK8IP2_uc003bmy.2_Missense_Mutation_p.D594Y|MAPK8IP2_uc011asc.1_5'UTR	p.D621Y	NM_012324	NP_036456	Q13387	JIP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	8	1978	+		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	621			SH3.		Q96G62|Q99771|Q9NZ59|Q9UKQ4	Missense_Mutation	SNP	ENST00000399908.2	37	c.1861G>T		.	.	.	.	.	.	.	.	.	.	G	16.63	3.176000	0.57692	.	.	ENSG00000008735	ENST00000399912;ENST00000329492;ENST00000442429;ENST00000341339;ENST00000399908;ENST00000008876	T;T;T;T;T;T	0.60299	0.2;0.2;0.2;0.2;0.2;0.2	5.03	5.03	0.67393	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.76449	0.3989	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79487	-0.1783	9	0.87932	D	0	0.0288	15.8931	0.79315	0.0:0.0:1.0:0.0	.	593;621	E7EQG6;Q13387	.;JIP2_HUMAN	Y	355;620;343;241;355;326	ENSP00000382796:D355Y;ENSP00000330572:D620Y;ENSP00000404914:D343Y;ENSP00000340015:D241Y;ENSP00000382792:D355Y;ENSP00000008876:D326Y	ENSP00000008876:D326Y	D	+	1	0	MAPK8IP2	49390875	1.000000	0.71417	0.827000	0.32855	0.035000	0.12851	9.335000	0.96500	2.621000	0.88768	0.563000	0.77884	GAC		0.652	MAPK8IP2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000316731.2		NM_012324		7	9	1	0	0.00198382	0.001984	0.00200185	7	9		
CNTN4	152330	broad.mit.edu	37	3	2908487	2908487	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr3:2908487G>A	ENST00000397461.1	+	7	890	c.506G>A	c.(505-507)cGc>cAc	p.R169H	CNTN4_ENST00000418658.1_Missense_Mutation_p.R169H|CNTN4_ENST00000358480.3_5'UTR|CNTN4_ENST00000427331.1_Missense_Mutation_p.R169H	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	169	Ig-like C2-type 2.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CAGGATAATCGCCGCTTTGTT	0.388																																						uc003bpc.2		NaN																	0				large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7						c.(505-507)CGC>CAC		contactin 4 isoform a precursor							139.0	128.0	131.0					3																	2908487		1830	4084	5914	SO:0001583	missense	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:2908487G>A	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.506G>A	3.37:g.2908487G>A	ENSP00000380602:p.Arg169His					CNTN4_uc003bpb.1_5'UTR|CNTN4_uc003bpd.1_Missense_Mutation_p.R169H	p.R169H	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	7	727	+		Ovarian(110;0.156)	169			Ig-like C2-type 2.		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	c.506G>A	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	G	34	5.305748	0.95601	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331	D;D;D	0.81659	-1.52;-1.52;-1.52	5.33	5.33	0.75918	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.91365	0.7276	M	0.87038	2.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.92645	0.6128	10	0.87932	D	0	.	19.0488	0.93034	0.0:0.0:1.0:0.0	.	169;169	B3KTK4;Q8IWV2	.;CNTN4_HUMAN	H	169	ENSP00000396010:R169H;ENSP00000380602:R169H;ENSP00000413642:R169H	ENSP00000380602:R169H	R	+	2	0	CNTN4	2883487	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.640000	0.98453	2.489000	0.83994	0.655000	0.94253	CGC		0.388	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2				63	123	0	0	0	0.01441	0	63	123		
ATG7	10533	broad.mit.edu	37	3	11600188	11600188	+	IGR	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr3:11600188C>G	ENST00000354449.3	+	0	4959				VGLL4_ENST00000424529.2_Missense_Mutation_p.D155H|VGLL4_ENST00000413604.1_Missense_Mutation_p.D180H|VGLL4_ENST00000404339.1_Missense_Mutation_p.D244H|VGLL4_ENST00000273038.3_Missense_Mutation_p.D239H|VGLL4_ENST00000451674.2_Missense_Mutation_p.D159H|VGLL4_ENST00000430365.2_Missense_Mutation_p.D245H	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7						adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						GCAAAGTGGTCGTCCACGGAG	0.642																																						uc003bwf.2		NaN																	0				ovary(1)	1						c.(715-717)GAC>CAC		vestigial like 4 isoform b							74.0	85.0	82.0					3																	11600188		2203	4300	6503	SO:0001628	intergenic_variant	9686				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:11600188C>G	AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"""Ubiquitin-like modifier activating enzymes"""	16935	protein-coding gene	gene with protein product	"""ubiquitin-activating enzyme E1-like protein"""	608760	"""APG7 autophagy 7-like (S. cerevisiae)"", ""ATG7 autophagy related 7 homolog (S. cerevisiae)"""	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740		3.37:g.11600188C>G						VGLL4_uc010hdx.1_Missense_Mutation_p.D245H|VGLL4_uc003bwg.2_Missense_Mutation_p.D244H|VGLL4_uc010hdv.1_Missense_Mutation_p.D155H|VGLL4_uc010hdw.1_Missense_Mutation_p.D159H|VGLL4_uc011aun.1_Missense_Mutation_p.D180H	p.D239H	NM_014667	NP_055482	Q14135	VGLL4_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)	6	1081	-			239					B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Missense_Mutation	SNP	ENST00000354449.3	37	c.715G>C	CCDS2605.1	.	.	.	.	.	.	.	.	.	.	c	32	5.108382	0.94292	.	.	ENSG00000144560	ENST00000273038;ENST00000413604;ENST00000451674;ENST00000424529;ENST00000430365;ENST00000404339	T;T;T	0.68025	-0.3;-0.2;-0.26	5.27	5.27	0.74061	.	0.043968	0.85682	D	0.000000	D	0.82416	0.5032	M	0.75777	2.31	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.999;0.999;0.999	D	0.84493	0.0612	10	0.87932	D	0	-38.4986	18.8719	0.92319	0.0:1.0:0.0:0.0	.	245;159;155;244;239	G5E9M7;Q14135-6;Q14135-5;G5E9F4;Q14135	.;.;.;.;VGLL4_HUMAN	H	239;180;159;155;245;244	ENSP00000273038:D239H;ENSP00000404251:D245H;ENSP00000384705:D244H	ENSP00000273038:D239H	D	-	1	0	VGLL4	11575188	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.682000	0.84083	2.468000	0.83385	0.558000	0.71614	GAC		0.642	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251951.3		NM_006395		123	146	0	0	0	0.01441	0	123	146		
KCNH8	131096	broad.mit.edu	37	3	19389402	19389402	+	Silent	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr3:19389402C>A	ENST00000328405.2	+	5	1022	c.756C>A	c.(754-756)tcC>tcA	p.S252S	KCNH8_ENST00000475063.1_3'UTR	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	252					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						ACGACCTGTCCACAACTCGGA	0.418																																					NSCLC(124;1625 1765 8018 24930 42026)	uc003cbk.1		NaN																	0				lung(4)|ovary(1)	5						c.(754-756)TCC>TCA		potassium voltage-gated channel, subfamily H,							156.0	141.0	146.0					3																	19389402		2203	4300	6503	SO:0001819	synonymous_variant	131096					integral to membrane	two-component sensor activity	g.chr3:19389402C>A	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.756C>A	3.37:g.19389402C>A						KCNH8_uc011awe.1_Silent_p.S252S|KCNH8_uc010hex.1_5'UTR	p.S252S	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN			5	951	+			252			Extracellular (Potential).		B7Z2I7|Q59GQ6	Silent	SNP	ENST00000328405.2	37	c.756C>A	CCDS2632.1																																																																																				0.418	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2		NM_144633		239	113	1	0	1.47544e-110	0.01441	2.12142e-110	239	113		
EFHB	151651	broad.mit.edu	37	3	19925991	19925991	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr3:19925991G>C	ENST00000295824.9	-	11	2211	c.2050C>G	c.(2050-2052)Ctc>Gtc	p.L684V	EFHB_ENST00000344838.4_Missense_Mutation_p.L554V	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	684							calcium ion binding (GO:0005509)			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						AGTGTCCGGAGAGTCTTTTCT	0.393																																						uc003cbl.3		NaN																	0					0						c.(2050-2052)CTC>GTC		EF hand domain family, member B							130.0	134.0	132.0					3																	19925991		2203	4300	6503	SO:0001583	missense	151651				signal transduction	proteinaceous extracellular matrix	calcium ion binding	g.chr3:19925991G>C	AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"""EF-hand domain containing"""	26330	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 21"""					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.2050C>G	3.37:g.19925991G>C	ENSP00000295824:p.Leu684Val					EFHB_uc003cbm.2_Missense_Mutation_p.L554V	p.L684V	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN			11	2246	-			684					A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Missense_Mutation	SNP	ENST00000295824.9	37	c.2050C>G	CCDS33715.2	.	.	.	.	.	.	.	.	.	.	G	0.542	-0.852985	0.02630	.	.	ENSG00000163576	ENST00000295824;ENST00000344838	T;T	0.22743	1.94;1.99	5.92	-1.74	0.08056	.	0.899660	0.09708	N	0.766128	T	0.14657	0.0354	L	0.38838	1.175	0.09310	N	1	B;B	0.12630	0.002;0.006	B;B	0.09377	0.004;0.002	T	0.33163	-0.9879	9	.	.	.	-0.1107	9.0671	0.36469	0.2282:0.4656:0.3062:0.0	.	554;684	Q8N7U6-3;Q8N7U6	.;EFHB_HUMAN	V	684;554	ENSP00000295824:L684V;ENSP00000342263:L554V	.	L	-	1	0	EFHB	19900995	0.080000	0.21391	0.000000	0.03702	0.196000	0.23810	0.235000	0.17948	-0.706000	0.05028	-0.182000	0.12963	CTC		0.393	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318673.2		NM_144715		46	124	0	0	0	0.011902	0	46	124		
NEK10	152110	broad.mit.edu	37	3	27326389	27326389	+	Missense_Mutation	SNP	G	G	T	rs372441033		TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr3:27326389G>T	ENST00000429845.2	-	22	2215	c.1853C>A	c.(1852-1854)tCt>tAt	p.S618Y	NEK10_ENST00000341435.5_Missense_Mutation_p.S618Y|NEK10_ENST00000357467.2_Missense_Mutation_p.S15Y			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	618	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTCCTTCAAAGAACTGAAATG	0.313																																						uc003cdt.1		NaN																	0				ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13						c.(1852-1854)TCT>TAT		NIMA-related kinase 10 isoform 3		G	TYR/SER	1,4401		0,1,2200	77.0	86.0	83.0		1853	5.7	1.0	3		83	0,8594		0,0,4297	no	missense	NEK10	NM_199347.2	144	0,1,6497	TT,TG,GG		0.0,0.0227,0.0077	possibly-damaging	618/713	27326389	1,12995	2201	4297	6498	SO:0001583	missense	152110						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr3:27326389G>T	AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)- related kinase 10"""			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.1853C>A	3.37:g.27326389G>T	ENSP00000395849:p.Ser618Tyr					NEK10_uc003cds.1_Missense_Mutation_p.S15Y	p.S618Y	NM_199347	NP_955379	Q6ZWH5	NEK10_HUMAN			22	2127	-			618			Protein kinase.		A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Missense_Mutation	SNP	ENST00000429845.2	37	c.1853C>A		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	28.0|28.0|28.0	4.884356|4.884356|4.884356	0.91814|0.91814|0.91814	2.27E-4|2.27E-4|2.27E-4	0.0|0.0|0.0	ENSG00000163491|ENSG00000163491|ENSG00000163491	ENST00000435584|ENST00000424275|ENST00000357467;ENST00000341435;ENST00000396636	.|.|T;T	.|.|0.63096	.|.|-0.02;-0.02	5.69|5.69|5.69	5.69|5.69|5.69	0.88448|0.88448|0.88448	.|.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|.|0.109014	.|.|0.64402	.|.|D	.|.|0.000005	T|T|T	0.69637|0.69637|0.69637	0.3133|0.3133|0.3133	N|N|N	0.25201|0.25201|0.25201	0.72|0.72|0.72	0.51233|0.51233|0.51233	D|D|D	0.99991|0.99991|0.99991	.|.|D;D	.|.|0.76494	.|.|0.998;0.999	.|.|D;D	.|.|0.71870	.|.|0.954;0.975	T|T|T	0.71652|0.71652|0.71652	-0.4528|-0.4528|-0.4528	5|5|10	.|.|0.54805	.|.|T	.|.|0.06	.|.|.	19.8138|19.8138|19.8138	0.96557|0.96557|0.96557	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|618;15	.|.|Q6ZWH5;Q8N774	.|.|NEK10_HUMAN;.	L|I|Y	74|105|15;618;618	.|.|ENSP00000350059:S15Y;ENSP00000343847:S618Y	.|.|ENSP00000343847:S618Y	F|L|S	-|-|-	3|1|2	2|0|0	NEK10|NEK10|NEK10	27301393|27301393|27301393	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.965000|0.965000|0.965000	0.64279|0.64279|0.64279	7.397000|7.397000|7.397000	0.79903|0.79903|0.79903	2.694000|2.694000|2.694000	0.91930|0.91930|0.91930	0.484000|0.484000|0.484000	0.47621|0.47621|0.47621	TTC|CTT|TCT		0.313	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1		NM_152534		25	131	1	0	4.22769e-11	0.00632	4.67404e-11	25	131		
SCN5A	6331	broad.mit.edu	37	3	38649641	38649641	+	Splice_Site	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr3:38649641C>T	ENST00000333535.4	-	8	1148		c.e8+1		SCN5A_ENST00000443581.1_Splice_Site|SCN5A_ENST00000413689.1_Splice_Site|SCN5A_ENST00000423572.2_Splice_Site|SCN5A_ENST00000455624.2_Splice_Site|SCN5A_ENST00000449557.2_Splice_Site|SCN5A_ENST00000451551.2_Splice_Site|SCN5A_ENST00000414099.2_Splice_Site|SCN5A_ENST00000425664.1_Splice_Site|SCN5A_ENST00000450102.2_Splice_Site			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit						AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GTGCCACATACCCAGCGTCAG	0.522																																						uc003cio.2		NaN																	0				ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9						c.e8+1		voltage-gated sodium channel type V alpha	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						133.0	141.0	139.0					3																	38649641		2032	4184	6216	SO:0001630	splice_region_variant	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38649641C>T	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.998+1G>A	3.37:g.38649641C>T						SCN5A_uc003cin.2_Splice_Site_p.G333_splice|SCN5A_uc003cil.3_Splice_Site_p.G333_splice|SCN5A_uc010hhi.2_Splice_Site_p.G333_splice|SCN5A_uc010hhk.2_Splice_Site_p.G333_splice|SCN5A_uc011ayr.1_Splice_Site_p.G333_splice|SCN5A_uc010hhj.1_5'Flank	p.G333_splice	NM_198056	NP_932173	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	8	1192	-	Medulloblastoma(35;0.163)							A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Splice_Site	SNP	ENST00000333535.4	37	c.998_splice	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.887875	0.72410	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	.	.	.	4.8	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8569	0.86008	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SCN5A	38624645	1.000000	0.71417	0.999000	0.59377	0.685000	0.39939	7.312000	0.78968	2.511000	0.84671	0.650000	0.86243	.		0.522	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1		NM_198056	Intron	228	129	0	0	0	0.01441	0	228	129		
CELSR3	1951	broad.mit.edu	37	3	48684347	48684347	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr3:48684347T>C	ENST00000164024.4	-	21	7424	c.7144A>G	c.(7144-7146)Agc>Ggc	p.S2382G	CELSR3_ENST00000544264.1_Missense_Mutation_p.S2387G|MIR4793_ENST00000577502.1_RNA	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2382					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCTATGCTGCTGCTTGTGGGC	0.572																																						uc003cul.2		NaN																	0				ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(7144-7146)AGC>GGC		cadherin EGF LAG seven-pass G-type receptor 3							41.0	38.0	39.0					3																	48684347		2180	4285	6465	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48684347T>C	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.7144A>G	3.37:g.48684347T>C	ENSP00000164024:p.Ser2382Gly					CELSR3_uc003cuf.1_Missense_Mutation_p.S2452G|CELSR3_uc010hkf.2_5'Flank|CELSR3_uc010hkg.2_Missense_Mutation_p.S365G	p.S2382G	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	21	7425	-			2382			Extracellular (Potential).		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.7144A>G	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	t	4.058	0.008575	0.07912	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.70631	-0.49;-0.5	5.36	1.72	0.24424	Domain of unknown function DUF3497 (1);	.	.	.	.	T	0.48409	0.1498	N	0.12182	0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.28713	-1.0035	9	0.22706	T	0.39	.	8.0871	0.30780	0.0:0.4003:0.0:0.5997	.	2382;2452	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	G	2382;2387	ENSP00000164024:S2382G;ENSP00000445694:S2387G	ENSP00000164024:S2382G	S	-	1	0	CELSR3	48659351	0.998000	0.40836	0.368000	0.25939	0.303000	0.27691	0.872000	0.28037	0.371000	0.24564	0.454000	0.30748	AGC		0.572	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1		NM_001407		9	2	0	0	0	0.004482	0	9	2		
HTR1F	3355	broad.mit.edu	37	3	88039908	88039908	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr3:88039908C>A	ENST00000319595.4	+	1	63	c.9C>A	c.(7-9)ttC>ttA	p.F3L		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	3					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Ketamine(DB01221)|Methysergide(DB00247)|Mianserin(DB06148)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	AAATGGATTTCTTAAATTCAT	0.368																																						uc003dqr.2		NaN																	0				ovary(3)	3						c.(7-9)TTC>TTA		5-hydroxytryptamine (serotonin) receptor 1F	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)						61.0	66.0	64.0					3																	88039908		2203	4300	6503	SO:0001583	missense	3355				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity	g.chr3:88039908C>A	L05597	CCDS2920.1	3p12	2012-08-08	2012-02-03		ENSG00000179097	ENSG00000179097		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5292	protein-coding gene	gene with protein product		182134	"""5-hydroxytryptamine (serotonin) receptor 1F"""			8384716, 8380639	Standard	NM_000866		Approved	HTR1EL, 5-HT1F	uc003dqr.2	P30939	OTTHUMG00000159008	ENST00000319595.4:c.9C>A	3.37:g.88039908C>A	ENSP00000322924:p.Phe3Leu						p.F3L	NM_000866	NP_000857	P30939	5HT1F_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	2	167	+	all_cancers(8;0.147)	Lung NSC(201;0.0283)	3			Extracellular (By similarity).			Missense_Mutation	SNP	ENST00000319595.4	37	c.9C>A	CCDS2920.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.808138	0.00606	.	.	ENSG00000179097	ENST00000319595	T	0.35789	1.29	5.96	2.93	0.34026	.	0.747484	0.12758	N	0.441582	T	0.15046	0.0363	N	0.08118	0	0.30114	N	0.806326	B	0.02656	0.0	B	0.01281	0.0	T	0.32455	-0.9906	10	0.10111	T	0.7	.	4.4959	0.11837	0.1514:0.5786:0.0:0.27	.	3	P30939	5HT1F_HUMAN	L	3	ENSP00000322924:F3L	ENSP00000322924:F3L	F	+	3	2	HTR1F	88122598	0.994000	0.37717	0.994000	0.49952	0.194000	0.23727	0.996000	0.29719	0.308000	0.22923	0.585000	0.79938	TTC		0.368	HTR1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352890.1		NM_000866		38	65	1	0	6.97489e-18	0.021022	8.34281e-18	38	65		
SIDT1	54847	broad.mit.edu	37	3	113286403	113286403	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr3:113286403A>G	ENST00000264852.4	+	3	1087	c.361A>G	c.(361-363)Aac>Gac	p.N121D	SIDT1_ENST00000393830.3_Missense_Mutation_p.N121D	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	121					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)			breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						GAGGAGCTACAACTATCAAGA	0.468																																						uc003eak.2		NaN																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(361-363)AAC>GAC		SID1 transmembrane family, member 1 precursor							85.0	79.0	81.0					3																	113286403		2203	4300	6503	SO:0001583	missense	54847					integral to membrane		g.chr3:113286403A>G	AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.361A>G	3.37:g.113286403A>G	ENSP00000264852:p.Asn121Asp					SIDT1_uc011bif.1_RNA|SIDT1_uc003eaj.1_Missense_Mutation_p.N121D|SIDT1_uc011big.1_5'UTR	p.N121D	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN			3	1012	+			121			Extracellular (Potential).		Q17RR4	Missense_Mutation	SNP	ENST00000264852.4	37	c.361A>G	CCDS2974.1	.	.	.	.	.	.	.	.	.	.	A	12.06	1.823467	0.32237	.	.	ENSG00000072858	ENST00000264852;ENST00000393830	T;T	0.14144	2.53;2.53	6.04	6.04	0.98038	.	0.084739	0.50627	D	0.000110	T	0.09555	0.0235	N	0.14661	0.345	0.38268	D	0.942072	B	0.17465	0.022	B	0.20184	0.028	T	0.27571	-1.0070	10	0.12430	T	0.62	-20.6839	16.5763	0.84648	1.0:0.0:0.0:0.0	.	121	Q9NXL6	SIDT1_HUMAN	D	121	ENSP00000264852:N121D;ENSP00000377416:N121D	ENSP00000264852:N121D	N	+	1	0	SIDT1	114769093	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	6.778000	0.75043	2.317000	0.78254	0.459000	0.35465	AAC		0.468	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1		NM_017699		59	101	0	0	0	0.01441	0	59	101		
LSAMP	4045	broad.mit.edu	37	3	115805390	115805390	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr3:115805390C>A	ENST00000490035.2	-	2	668	c.169G>T	c.(169-171)Gac>Tac	p.D57Y	LSAMP_ENST00000539563.1_Missense_Mutation_p.D54Y	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	57	Ig-like C2-type 1.				cell adhesion (GO:0007155)|locomotory exploration behavior (GO:0035641)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		GAGTTCTTGTCTTCTACAACG	0.458																																						uc003ebt.2		NaN																	0					0						c.(169-171)GAC>TAC		limbic system-associated membrane protein							93.0	84.0	87.0					3																	115805390		2203	4300	6503	SO:0001583	missense	4045				cell adhesion|nervous system development	anchored to membrane|plasma membrane		g.chr3:115805390C>A	U41901	CCDS2982.1	3q13.2-q21	2013-01-11			ENSG00000185565	ENSG00000185565		"""Immunoglobulin superfamily / I-set domain containing"""	6705	protein-coding gene	gene with protein product	"""IgLON family member 3"""	603241				9615236	Standard	NM_002338		Approved	LAMP, IGLON3	uc003ebs.3	Q13449	OTTHUMG00000159308	ENST00000490035.2:c.169G>T	3.37:g.115805390C>A	ENSP00000419000:p.Asp57Tyr					LSAMP_uc011bis.1_Missense_Mutation_p.D57Y	p.D57Y	NM_002338	NP_002329	Q13449	LSAMP_HUMAN		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)	2	669	-		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)	57			Ig-like C2-type 1.		Q8IV49	Missense_Mutation	SNP	ENST00000490035.2	37	c.169G>T	CCDS2982.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.984974	0.74474	.	.	ENSG00000185565	ENST00000333617;ENST00000490035;ENST00000539563;ENST00000474851	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	5.78	5.78	0.91487	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.79656	0.4483	M	0.65677	2.01	0.80722	D	1	D;D	0.89917	1.0;0.985	D;D	0.85130	0.997;0.984	T	0.80883	-0.1183	10	0.87932	D	0	-20.8889	13.2368	0.59974	0.0:0.9275:0.0:0.0725	.	57;57	B2RCU8;Q13449	.;LSAMP_HUMAN	Y	41;57;54;91	ENSP00000328455:D41Y;ENSP00000419000:D57Y;ENSP00000443429:D54Y;ENSP00000418506:D91Y	ENSP00000328455:D41Y	D	-	1	0	LSAMP	117288080	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	6.045000	0.71020	2.745000	0.94114	0.555000	0.69702	GAC		0.458	LSAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354495.4		NM_002338		40	27	1	0	1.76056e-25	0.011902	2.23595e-25	40	27		
ARHGAP31	57514	broad.mit.edu	37	3	119128361	119128361	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr3:119128361C>A	ENST00000264245.4	+	11	2196	c.1664C>A	c.(1663-1665)gCa>gAa	p.A555E		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	555					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						CCTAAGAAGGCAGGTCTTGAG	0.517																																					Pancreas(7;176 297 5394 51128 51241)	uc003ecj.3		NaN																	0				ovary(2)	2						c.(1663-1665)GCA>GAA		Cdc42 GTPase-activating protein							46.0	46.0	46.0					3																	119128361		1935	4145	6080	SO:0001583	missense	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119128361C>A		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.1664C>A	3.37:g.119128361C>A	ENSP00000264245:p.Ala555Glu						p.A555E	NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN			11	2196	+			555					Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	c.1664C>A	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	C	2.763	-0.257339	0.05791	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.06218	3.33	5.27	0.0684	0.14369	.	1.040590	0.07554	N	0.915980	T	0.03739	0.0106	L	0.28274	0.84	0.09310	N	0.999998	B	0.10296	0.003	B	0.06405	0.002	T	0.46638	-0.9177	10	0.07175	T	0.84	.	3.6614	0.08240	0.1758:0.46:0.0:0.3642	.	555	Q2M1Z3	RHG31_HUMAN	E	555	ENSP00000264245:A555E	ENSP00000264245:A555E	A	+	2	0	ARHGAP31	120611051	0.000000	0.05858	0.021000	0.16686	0.081000	0.17604	-1.104000	0.03326	0.112000	0.17975	-0.253000	0.11424	GCA		0.517	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2				14	29	1	0	1.05317e-09	0.020292	1.13718e-09	14	29		
KALRN	8997	broad.mit.edu	37	3	124048787	124048787	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr3:124048787C>G	ENST00000240874.3	+	8	1515	c.1358C>G	c.(1357-1359)gCa>gGa	p.A453G	KALRN_ENST00000360013.3_Missense_Mutation_p.A453G|KALRN_ENST00000460856.1_Missense_Mutation_p.A453G	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	453					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CTAGAGCTGGCAATCCACCAC	0.562																																						uc003ehg.2		NaN																	0				large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(1357-1359)GCA>GGA		kalirin, RhoGEF kinase isoform 1							149.0	123.0	132.0					3																	124048787		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124048787C>G	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.1358C>G	3.37:g.124048787C>G	ENSP00000240874:p.Ala453Gly					KALRN_uc010hrv.1_Missense_Mutation_p.A453G|KALRN_uc003ehf.1_Missense_Mutation_p.A453G|KALRN_uc011bjy.1_Missense_Mutation_p.A453G	p.A453G	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			8	1485	+			453					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.1358C>G	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.34|19.34	3.809734|3.809734	0.70797|0.70797	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013|ENST00000354186	T;T;T|.	0.42900|.	0.96;0.96;0.96|.	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	0.064498|.	0.64402|.	D|.	0.000010|.	T|T	0.75781|0.75781	0.3896|0.3896	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	B;P;B|.	0.42908|.	0.02;0.793;0.033|.	B;B;B|.	0.35607|.	0.02;0.206;0.044|.	T|T	0.74847|0.74847	-0.3525|-0.3525	10|5	0.39692|.	T|.	0.17|.	.|.	18.8402|18.8402	0.92180|0.92180	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	453;453;453|.	C9IZQ6;O60229;O60229-2|.	.;KALRN_HUMAN;.|.	G|E	453|431	ENSP00000418611:A453G;ENSP00000240874:A453G;ENSP00000353109:A453G|.	ENSP00000240874:A453G|.	A|Q	+|+	2|1	0|0	KALRN|KALRN	125531477|125531477	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.981000|0.981000	0.71138|0.71138	7.609000|7.609000	0.82925|0.82925	2.757000|2.757000	0.94681|0.94681	0.655000|0.655000	0.94253|0.94253	GCA|CAA		0.562	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4		NM_003947		71	71	0	0	0	0.01441	0	71	71		
PLXND1	23129	broad.mit.edu	37	3	129284333	129284333	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr3:129284333C>A	ENST00000324093.4	-	25	4549	c.4371G>T	c.(4369-4371)gaG>gaT	p.E1457D	PLXND1_ENST00000393239.1_Missense_Mutation_p.E1457D	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1457					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TGGTGTAGTACTCCAGCTTGC	0.632																																					Ovarian(97;366 1484 3738 22084 39045)	uc003emx.2		NaN																	0				large_intestine(1)	1						c.(4369-4371)GAG>GAT		plexin D1 precursor							86.0	73.0	77.0					3																	129284333		2203	4300	6503	SO:0001583	missense	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129284333C>A	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.4371G>T	3.37:g.129284333C>A	ENSP00000317128:p.Glu1457Asp					PLXND1_uc011blb.1_Missense_Mutation_p.E125D	p.E1457D	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN			25	4471	-			1457			Cytoplasmic (Potential).		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	c.4371G>T	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804896	0.70682	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.12672	2.66;2.66	4.96	3.96	0.45880	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.059781	0.64402	D	0.000004	T	0.28400	0.0702	L	0.52573	1.65	0.51233	D	0.999916	D;D	0.89917	0.992;1.0	D;D	0.87578	0.983;0.998	T	0.00615	-1.1643	10	0.42905	T	0.14	.	11.3559	0.49615	0.0:0.8327:0.0:0.1673	.	52;1457	B4DRU3;Q9Y4D7	.;PLXD1_HUMAN	D	1457	ENSP00000317128:E1457D;ENSP00000376931:E1457D	ENSP00000317128:E1457D	E	-	3	2	PLXND1	130767023	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.661000	0.37408	2.294000	0.77228	0.561000	0.74099	GAG		0.632	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4		NM_015103		67	54	1	0	2.69673e-31	0.01441	3.58059e-31	67	54		
MRPL3	11222	broad.mit.edu	37	3	131208827	131208827	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr3:131208827G>T	ENST00000264995.3	-	5	713	c.566C>A	c.(565-567)cCa>cAa	p.P189Q	MRPL3_ENST00000425847.2_Missense_Mutation_p.P216Q|MRPL3_ENST00000506946.1_5'UTR	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	189					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						CAAATTACCTGGTTTAATTGC	0.363																																						uc003eoh.2		NaN																	0					0						c.(565-567)CCA>CAA		mitochondrial ribosomal protein L3							86.0	85.0	86.0					3																	131208827		2203	4300	6503	SO:0001583	missense	11222				translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr3:131208827G>T	X06323	CCDS3071.1	3q21-q23	2012-09-13			ENSG00000114686	ENSG00000114686		"""Mitochondrial ribosomal proteins / large subunits"""	10379	protein-coding gene	gene with protein product		607118		RPML3		2891103	Standard	NM_007208		Approved	MRL3	uc003eoh.3	P09001	OTTHUMG00000159607	ENST00000264995.3:c.566C>A	3.37:g.131208827G>T	ENSP00000264995:p.Pro189Gln					MRPL3_uc011blo.1_Missense_Mutation_p.P84Q|MRPL3_uc011blp.1_Missense_Mutation_p.P216Q	p.P189Q	NM_007208	NP_009139	P09001	RM03_HUMAN			5	730	-			189					Q6IBT2	Missense_Mutation	SNP	ENST00000264995.3	37	c.566C>A	CCDS3071.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.908418	0.72868	.	.	ENSG00000114686	ENST00000264995;ENST00000425847;ENST00000507669;ENST00000512877	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.23	5.23	0.72850	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.160019	0.56097	D	0.000022	T	0.67832	0.2935	M	0.88512	2.96	0.80722	D	1	B;B	0.31274	0.162;0.317	P;P	0.49597	0.477;0.616	T	0.70956	-0.4731	10	0.56958	D	0.05	-9.1392	17.5657	0.87919	0.0:0.0:1.0:0.0	.	216;189	E7ETU7;P09001	.;RM03_HUMAN	Q	189;216;84;156	ENSP00000264995:P189Q;ENSP00000398536:P216Q;ENSP00000422419:P84Q;ENSP00000422035:P156Q	ENSP00000264995:P189Q	P	-	2	0	MRPL3	132691517	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	7.478000	0.81082	2.442000	0.82660	0.448000	0.29417	CCA		0.363	MRPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356471.3		NM_007208		11	17	1	0	1.61879e-10	0.013537	1.76509e-10	11	17		
P2RY14	9934	broad.mit.edu	37	3	150931787	150931787	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr3:150931787G>A	ENST00000309170.3	-	3	630	c.318C>T	c.(316-318)taC>taT	p.Y106Y	P2RY14_ENST00000424796.2_Silent_p.Y106Y|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14	106					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|UDP-activated nucleotide receptor activity (GO:0045029)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAATGCTGACGTACATGTTGA	0.458																																						uc003eyr.1		NaN																	0				large_intestine(2)|ovary(1)|lung(1)	4						c.(316-318)TAC>TAT		P2Y14 receptor							76.0	65.0	69.0					3																	150931787		2203	4300	6503	SO:0001819	synonymous_variant	9934					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity	g.chr3:150931787G>A	D13626	CCDS3156.1	3q21-q25	2012-08-08	2004-07-12	2004-07-14	ENSG00000174944	ENSG00000174944		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	16442	protein-coding gene	gene with protein product		610116	"""G protein-coupled receptor 105"""	GPR105			Standard	NM_014879		Approved	KIAA0001	uc003eys.1	Q15391	OTTHUMG00000159859	ENST00000309170.3:c.318C>T	3.37:g.150931787G>A						MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron|P2RY14_uc003eys.1_Silent_p.Y106Y	p.Y106Y	NM_001081455	NP_001074924	Q15391	P2Y14_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	796	-			106			Helical; Name=3; (Potential).		Q8IYT7	Silent	SNP	ENST00000309170.3	37	c.318C>T	CCDS3156.1																																																																																				0.458	P2RY14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357789.1		NM_014879		38	33	0	0	0	0.019004	0	38	33		
GMPS	8833	broad.mit.edu	37	3	155615800	155615800	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr3:155615800G>T	ENST00000496455.2	+	3	629	c.294G>T	c.(292-294)aaG>aaT	p.K98N	GMPS_ENST00000295920.7_Intron|GMPS_ENST00000476145.1_3'UTR	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	98	Glutamine amidotransferase type-1. {ECO:0000255|PROSITE-ProRule:PRU00605}.				glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|GMP synthase (glutamine-hydrolyzing) activity (GO:0003922)|GMP synthase activity (GO:0003921)|pyrophosphatase activity (GO:0016462)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamine(DB00130)	CTATTGGCAAGCCTGTTCTTG	0.368			T	MLL	AML																																Ovarian(153;896 1876 4149 15499 28134)	uc003faq.2		NaN		Dom	yes		3	3q24	8833	T	guanine monphosphate synthetase			L	MLL		AML		0				ovary(2)|lung(1)	3						c.(292-294)AAG>AAT		guanine monophosphate synthetase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						304.0	284.0	290.0					3																	155615800		1870	4114	5984	SO:0001583	missense	8833				glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity	g.chr3:155615800G>T	U10860	CCDS46941.1	3q25.31	2013-06-18	2013-06-18		ENSG00000163655	ENSG00000163655	6.3.5.2		4378	protein-coding gene	gene with protein product	"""GMP synthase"""	600358	"""guanine monphosphate synthetase"""			8089153, 9195163	Standard	NM_003875		Approved		uc003faq.3	P49915	OTTHUMG00000158551	ENST00000496455.2:c.294G>T	3.37:g.155615800G>T	ENSP00000419851:p.Lys98Asn					GMPS_uc011bom.1_Intron	p.K98N	NM_003875	NP_003866	P49915	GUAA_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		3	629	+			98			Glutamine amidotransferase type-1.		A8K639|B4DXV7|F8W720	Missense_Mutation	SNP	ENST00000496455.2	37	c.294G>T	CCDS46941.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.539663	0.65085	.	.	ENSG00000163655	ENST00000496455;ENST00000537975;ENST00000541628	D	0.90197	-2.63	5.57	2.83	0.33086	Glutamine amidotransferase type 1 (2);GMP synthase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94381	0.8193	M	0.87682	2.9	0.58432	D	0.999991	D	0.71674	0.998	D	0.63283	0.913	D	0.93208	0.6597	10	0.87932	D	0	-10.4099	9.4928	0.38971	0.4018:0.0:0.5982:0.0	.	98	P49915	GUAA_HUMAN	N	98;47;98	ENSP00000419851:K98N	ENSP00000419851:K98N	K	+	3	2	GMPS	157098494	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.408000	0.34668	0.313000	0.23062	-0.812000	0.03155	AAG		0.368	GMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351260.2				152	156	1	0	1.09856e-86	0.01441	1.57546e-86	152	156		
TRIM59	286827	broad.mit.edu	37	3	160156689	160156689	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr3:160156689C>A	ENST00000309784.4	-	3	468	c.283G>T	c.(283-285)Gtc>Ttc	p.V95F	TRIM59_ENST00000543469.1_Missense_Mutation_p.V95F|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.V95F	NM_173084.2	NP_775107.1	Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	95					innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral entry into host cell (GO:0046597)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GGGCAGGTGACAATATCTGGA	0.363																																						uc003fdm.2		NaN																	0					0						c.(283-285)GTC>TTC		tripartite motif-containing 59							107.0	109.0	108.0					3																	160156689		2203	4300	6503	SO:0001583	missense	286827					integral to membrane|intracellular	zinc ion binding	g.chr3:160156689C>A	AY159379	CCDS3190.1	3q26	2013-01-09	2011-01-25		ENSG00000213186	ENSG00000213186		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	30834	protein-coding gene	gene with protein product			"""tripartite motif-containing 57"", ""tripartite motif-containing 59"""	TRIM57		12095697	Standard	NM_173084		Approved	TSBF1, Mrf1, RNF104	uc003fdm.3	Q8IWR1	OTTHUMG00000159034	ENST00000309784.4:c.283G>T	3.37:g.160156689C>A	ENSP00000311219:p.Val95Phe					IFT80_uc003fda.2_RNA	p.V95F	NM_173084	NP_775107	Q8IWR1	TRI59_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		3	478	-			95			B box-type.		A8K5G9|D3DNL9	Missense_Mutation	SNP	ENST00000309784.4	37	c.283G>T	CCDS3190.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.936552	0.34189	.	.	ENSG00000213186	ENST00000543469;ENST00000309784;ENST00000479460;ENST00000471396;ENST00000496222;ENST00000471155;ENST00000494486	T;T;T;T;T;T;T	0.57273	0.96;0.96;0.96;0.96;0.96;0.41;1.34	6.17	0.0995	0.14503	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, B-box (2);	0.662303	0.15712	N	0.248341	T	0.36166	0.0957	L	0.43923	1.385	0.09310	N	1	P	0.44690	0.841	B	0.36766	0.232	T	0.18272	-1.0342	9	.	.	.	-11.3035	7.2268	0.26020	0.1043:0.5996:0.0:0.2961	.	95	Q8IWR1	TRI59_HUMAN	F	95;95;95;95;123;95;95	ENSP00000444313:V95F;ENSP00000311219:V95F;ENSP00000417081:V95F;ENSP00000420520:V95F;ENSP00000418856:V123F;ENSP00000418699:V95F;ENSP00000417605:V95F	.	V	-	1	0	TRIM59	161639383	0.534000	0.26362	0.025000	0.17156	0.955000	0.61496	1.446000	0.35090	0.198000	0.20407	0.655000	0.94253	GTC		0.363	TRIM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352963.1		NM_173084		39	58	1	0	1.47244e-24	0.00623	1.85729e-24	39	58		
SLITRK3	22865	broad.mit.edu	37	3	164907895	164907895	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr3:164907895G>T	ENST00000475390.1	-	2	1167	c.724C>A	c.(724-726)Caa>Aaa	p.Q242K	SLITRK3_ENST00000241274.3_Missense_Mutation_p.Q242K			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	242	LRRCT 1.				axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CTCTTCAGTTGTACAATTTCA	0.463										HNSCC(40;0.11)																												uc003fej.3		NaN																	0				ovary(6)|skin(3)|pancreas(1)	10						c.(724-726)CAA>AAA		slit and trk like 3 protein precursor							95.0	99.0	98.0					3																	164907895		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164907895G>T	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.724C>A	3.37:g.164907895G>T	ENSP00000420091:p.Gln242Lys	HNSCC(40;0.11)				SLITRK3_uc003fek.2_Missense_Mutation_p.Q242K	p.Q242K	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	1168	-			242			LRRCT 1.|Extracellular (Potential).		Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.724C>A	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.721366	0.48728	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.51325	0.71;0.71	5.85	5.85	0.93711	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.36268	N	0.002697	T	0.63390	0.2507	L	0.59436	1.845	0.50632	D	0.999888	P	0.49447	0.924	P	0.62298	0.9	T	0.52071	-0.8624	10	0.14252	T	0.57	-14.9915	20.1531	0.98091	0.0:0.0:1.0:0.0	.	242	O94933	SLIK3_HUMAN	K	242	ENSP00000420091:Q242K;ENSP00000241274:Q242K	ENSP00000241274:Q242K	Q	-	1	0	SLITRK3	166390589	1.000000	0.71417	0.711000	0.30485	0.877000	0.50540	6.660000	0.74417	2.767000	0.95098	0.655000	0.94253	CAA		0.463	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1		NM_014926		47	93	1	0	1.23713e-20	0.01441	1.51569e-20	47	93		
MAP3K13	9175	broad.mit.edu	37	3	185198111	185198111	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr3:185198111G>A	ENST00000265026.3	+	13	2927	c.2593G>A	c.(2593-2595)Gac>Aac	p.D865N	MAP3K13_ENST00000535426.1_Missense_Mutation_p.D721N|MAP3K13_ENST00000446828.1_Missense_Mutation_p.D658N|MAP3K13_ENST00000424227.1_Missense_Mutation_p.D865N|TMEM41A_ENST00000475480.1_5'UTR|MAP3K13_ENST00000443863.1_Missense_Mutation_p.D721N	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AAATACCAGTGACCACTCAAA	0.488																																						uc010hyf.2		NaN																	0				ovary(2)|skin(1)	3						c.(2593-2595)GAC>AAC		mitogen-activated protein kinase kinase kinase							101.0	98.0	99.0					3																	185198111		2203	4300	6503	SO:0001583	missense	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185198111G>A	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.2593G>A	3.37:g.185198111G>A	ENSP00000265026:p.Asp865Asn					MAP3K13_uc011brt.1_Missense_Mutation_p.D658N|MAP3K13_uc011bru.1_Missense_Mutation_p.D721N|MAP3K13_uc003fpi.2_Missense_Mutation_p.D865N|MAP3K13_uc010hyg.2_Missense_Mutation_p.D555N	p.D865N	NM_004721	NP_004712	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		14	2859	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		865						Missense_Mutation	SNP	ENST00000265026.3	37	c.2593G>A	CCDS3270.1	.	.	.	.	.	.	.	.	.	.	G	35	5.507092	0.96386	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026	T;T;T;T;T	0.13420	2.59;2.59;2.59;2.59;2.59	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.29028	0.0721	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	T	0.00795	-1.1563	10	0.30078	T	0.28	.	19.8657	0.96803	0.0:0.0:1.0:0.0	.	721;658;865	O43283-4;O43283-5;O43283	.;.;M3K13_HUMAN	N	658;865;721;721;865	ENSP00000411483:D658N;ENSP00000399910:D865N;ENSP00000409325:D721N;ENSP00000439257:D721N;ENSP00000265026:D865N	ENSP00000265026:D865N	D	+	1	0	MAP3K13	186680805	1.000000	0.71417	0.991000	0.47740	0.993000	0.82548	9.804000	0.99143	2.686000	0.91538	0.655000	0.94253	GAC		0.488	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1		NM_004721		86	77	0	0	0	0.01441	0	86	77		
CCDC50	152137	broad.mit.edu	37	3	191074896	191074896	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr3:191074896C>T	ENST00000392455.3	+	2	667	c.69C>T	c.(67-69)gtC>gtT	p.V23V	CCDC50_ENST00000392456.3_Silent_p.V23V	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	23						cytoplasm (GO:0005737)	ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		ATTTTGCTGTCCTGGAGGACC	0.398																																						uc003fsw.2		NaN																	0					0						c.(67-69)GTC>GTT		Ymer protein short isoform							132.0	127.0	129.0					3																	191074896		2203	4300	6503	SO:0001819	synonymous_variant	152137					cytoplasm	protein binding	g.chr3:191074896C>T	AJ416916	CCDS33912.1, CCDS33913.1	3q28	2010-12-24		2005-12-23	ENSG00000152492	ENSG00000152492			18111	protein-coding gene	gene with protein product		611051	"""deafness, autosomal dominant 44"""	C3orf6, DFNA44		16803894, 17503326	Standard	NM_178335		Approved	Ymer	uc003fsv.3	Q8IVM0	OTTHUMG00000156177	ENST00000392455.3:c.69C>T	3.37:g.191074896C>T						CCDC50_uc003fsv.2_Silent_p.V23V	p.V23V	NM_174908	NP_777568	Q8IVM0	CCD50_HUMAN	LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)	2	659	+	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		23					Q86VH7	Silent	SNP	ENST00000392455.3	37	c.69C>T	CCDS33913.1																																																																																				0.398	CCDC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343315.1		NM_174908		28	51	0	0	0	0.008361	0	28	51		
PCYT1A	5130	broad.mit.edu	37	3	195968895	195968895	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr3:195968895C>T	ENST00000292823.2	-	8	804	c.632G>A	c.(631-633)cGg>cAg	p.R211Q	PCYT1A_ENST00000431016.1_Missense_Mutation_p.R211Q|PCYT1A_ENST00000419333.1_Missense_Mutation_p.R211Q	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	211					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|glycogen granule (GO:0042587)	choline-phosphate cytidylyltransferase activity (GO:0004105)|lipid binding (GO:0008289)			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)|Lamivudine(DB00709)	ATCATAATCCCGCACAATTCG	0.488																																						uc003fwg.2		NaN																	0					0						c.(631-633)CGG>CAG		choline phosphate cytidylyltransferase 1 alpha	Choline(DB00122)						145.0	121.0	129.0					3																	195968895		2203	4300	6503	SO:0001583	missense	5130					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity	g.chr3:195968895C>T	L28957	CCDS3315.1	3q29	2010-07-19	2005-09-05		ENSG00000161217	ENSG00000161217	2.7.7.15		8754	protein-coding gene	gene with protein product	"""phosphate cytidylyltransferase 1, choline, alpha isoform"""	123695	"""phosphate cytidylyltransferase 1, choline, alpha isoform"""	PCYT1		7918629	Standard	NM_005017		Approved	CT, CTPCT	uc003fwg.3	P49585	OTTHUMG00000155670	ENST00000292823.2:c.632G>A	3.37:g.195968895C>T	ENSP00000292823:p.Arg211Gln					PCYT1A_uc003fwh.2_Missense_Mutation_p.R211Q	p.R211Q	NM_005017	NP_005008	P49585	PCY1A_HUMAN	Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	8	805	-	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		211			Catalytic (Potential).		A9LYK9|D3DXB1|Q86Y88	Missense_Mutation	SNP	ENST00000292823.2	37	c.632G>A	CCDS3315.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.494921	0.85069	.	.	ENSG00000161217	ENST00000419333;ENST00000292823;ENST00000416798;ENST00000431016;ENST00000411591;ENST00000433733;ENST00000430755	.	.	.	5.65	5.65	0.86999	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.72977	0.3528	M	0.87381	2.88	0.80722	D	1	B	0.23806	0.091	B	0.08055	0.003	T	0.73288	-0.4030	9	0.87932	D	0	-1.6477	18.7797	0.91926	0.0:1.0:0.0:0.0	.	211	P49585	PCY1A_HUMAN	Q	211;211;172;211;211;84;145	.	ENSP00000292823:R211Q	R	-	2	0	PCYT1A	197453292	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.484000	0.81180	2.685000	0.91497	0.650000	0.86243	CGG		0.488	PCYT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341147.1		NM_005017		54	97	0	0	0	0.01441	0	54	97		
ZNF141	7700	broad.mit.edu	37	4	367619	367619	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr4:367619C>A	ENST00000240499.7	+	4	1542	c.1393C>A	c.(1393-1395)Cac>Aac	p.H465N	ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	465					anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|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)			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						ACGGTTCTCACACCTGAATAA	0.333																																						uc003gaa.2		NaN																	0					0						c.(1393-1395)CAC>AAC		zinc finger protein 141							58.0	65.0	63.0					4																	367619		2201	4296	6497	SO:0001583	missense	7700				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr4:367619C>A	L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"""Zinc fingers, C2H2-type"", ""-"""	12926	protein-coding gene	gene with protein product		194648	"""zinc finger protein 141 (clone pHZ-44)"""	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.1393C>A	4.37:g.367619C>A	ENSP00000240499:p.His465Asn					ZNF141_uc003gab.2_Intron	p.H465N	NM_003441	NP_003432	Q15928	ZN141_HUMAN			5	1571	+			465			C2H2-type 11.		Q6DK07	Missense_Mutation	SNP	ENST00000240499.7	37	c.1393C>A	CCDS33931.1	.	.	.	.	.	.	.	.	.	.	C	0.043	-1.275858	0.01410	.	.	ENSG00000131127	ENST00000240499	T	0.35421	1.31	1.24	-2.48	0.06423	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14614	0.0353	N	0.11154	0.105	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.26395	-1.0104	8	.	.	.	.	3.8702	0.09033	0.245:0.5087:0.2462:0.0	.	465	Q15928	ZN141_HUMAN	N	465	ENSP00000240499:H465N	.	H	+	1	0	ZNF141	357619	0.000000	0.05858	0.010000	0.14722	0.481000	0.33189	-4.855000	0.00177	-0.412000	0.07519	0.313000	0.20887	CAC		0.333	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1		NM_003441		49	50	1	0	1.47857e-17	0.01441	1.76475e-17	49	50		
FAM53A	152877	broad.mit.edu	37	4	1656734	1656734	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr4:1656734G>A	ENST00000308132.6	-	4	1045	c.853C>T	c.(853-855)Cca>Tca	p.P285S	FAM53A_ENST00000461064.1_Missense_Mutation_p.P285S|FAM53A_ENST00000472884.2_Missense_Mutation_p.P285S|FAM53A_ENST00000489363.1_Missense_Mutation_p.P285S	NM_001174070.1	NP_001167541.1	Q6NSI3	FA53A_HUMAN	family with sequence similarity 53, member A	285						nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			TCCAAGGATGGGCGTGTCCAC	0.647																																						uc011bve.1		NaN																	0					0						c.(853-855)CCA>TCA		dorsal neural-tube nuclear protein							42.0	38.0	39.0					4																	1656734		2203	4300	6503	SO:0001583	missense	152877					nucleus		g.chr4:1656734G>A	BC070112	CCDS33939.1, CCDS75091.1	4p16.3	2005-08-09			ENSG00000174137	ENSG00000174137			31860	protein-coding gene	gene with protein product							Standard	NM_001013622		Approved	DNTNP	uc021xkl.1	Q6NSI3	OTTHUMG00000159855	ENST00000308132.6:c.853C>T	4.37:g.1656734G>A	ENSP00000310057:p.Pro285Ser					FAM53A_uc010ibw.2_Missense_Mutation_p.P285S	p.P285S	NM_001013622	NP_001013644	Q6NSI3	FA53A_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0145)		4	1051	-		all_epithelial(65;0.206)|Breast(71;0.212)	285					Q6ZUL5	Missense_Mutation	SNP	ENST00000308132.6	37	c.853C>T	CCDS33939.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335479	0.81801	.	.	ENSG00000174137	ENST00000308132;ENST00000489363;ENST00000461064;ENST00000472884	T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4	4.51	4.51	0.55191	.	0.000000	0.56097	D	0.000022	D	0.89681	0.6785	M	0.79475	2.455	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91468	0.5194	10	0.87932	D	0	-13.1594	17.243	0.87019	0.0:0.0:1.0:0.0	.	285;285	Q6NSI3;C9JYQ7	FA53A_HUMAN;.	S	285	ENSP00000310057:P285S;ENSP00000419044:P285S;ENSP00000418243:P285S;ENSP00000426260:P285S	ENSP00000310057:P285S	P	-	1	0	FAM53A	1626531	1.000000	0.71417	0.329000	0.25429	0.780000	0.44128	8.272000	0.89885	2.062000	0.61559	0.563000	0.77884	CCA		0.647	FAM53A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359224.1		NM_001013622		27	54	0	0	0	0.007291	0	27	54		
FGFR3	2261	broad.mit.edu	37	4	1803564	1803564	+	Missense_Mutation	SNP	C	C	T	rs121913482		TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNASeq			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr4:1803564C>T	ENST00000260795.2	+	6	844	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	FGFR3_ENST00000412135.2_Missense_Mutation_p.R248C|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000352904.1_Missense_Mutation_p.R248C|FGFR3_ENST00000440486.2_Missense_Mutation_p.R248C|FGFR3_ENST00000481110.2_Missense_Mutation_p.R248C|FGFR3_ENST00000340107.4_Missense_Mutation_p.R248C			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	248			R -> C (in KERSEB, bladder cancer, keratinocytic non-epidermolytic nevus and TD1; severe and lethal; also found as somatic mutation in one patient with multiple myeloma; constitutive dimerization and kinase activation). {ECO:0000269|PubMed:10360402, ECO:0000269|PubMed:10471491, ECO:0000269|PubMed:11529856, ECO:0000269|PubMed:15772091, ECO:0000269|PubMed:16841094, ECO:0000269|PubMed:7773297, ECO:0000269|PubMed:8845844}.		alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)	p.R248C(241)|p.R248_S249del(1)|p.R248_S249insC(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	CCCCACAGAGCGCTCCCCGCA	0.741		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome																													uc003gdr.3		1		Dom	yes		4	4p16.3	2261	Mis|T	fibroblast growth factor receptor 3	yes	Hypochondroplasia|Thanatophoric dysplasia	"""L, E"""	IGH@|ETV6		bladder|MM|T-cell lymphoma		243	Substitution - Missense(241)|Insertion - In frame(1)|Deletion - In frame(1)	p.R248C(291)|p.R248_S249insC(2)|p.R248_S249del(1)	urinary_tract(168)|skin(70)|haematopoietic_and_lymphoid_tissue(2)|lung(2)|upper_aerodigestive_tract(1)	urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600	GRCh37	CM950469	FGFR3	M	rs121913482	c.(742-744)CGC>TGC		fibroblast growth factor receptor 3 isoform 1	Palifermin(DB00039)						13.0	15.0	14.0					4																	1803564		2180	4268	6448	SO:0001583	missense	2261	Muenke_syndrome|Saethre-Chotzen_syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1803564C>T	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.742C>T	4.37:g.1803564C>T	ENSP00000260795:p.Arg248Cys					FGFR3_uc003gdu.2_Missense_Mutation_p.R248C|FGFR3_uc003gds.3_Missense_Mutation_p.R248C|FGFR3_uc003gdq.3_Missense_Mutation_p.R248C|FGFR3_uc010icb.1_Missense_Mutation_p.R90C|FGFR3_uc003gdt.1_Missense_Mutation_p.R90C	p.R248C	NM_000142	NP_000133	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		7	998	+		Breast(71;0.212)|all_epithelial(65;0.241)	248		R -> C (in KERSEB, bladder cancer, keratinocytic non-epidermolytic nevus and TD1; severe and lethal; also found as somatic mutation in one patient with multiple myeloma).	Extracellular (Potential).		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	37	c.742C>T	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	c	16.88	3.244004	0.58995	.	.	ENSG00000068078	ENST00000481110;ENST00000340107;ENST00000440486;ENST00000412135;ENST00000260795;ENST00000352904;ENST00000507588	D;T;T;T;T;T;T	0.83075	-1.68;-1.44;-1.44;-1.39;-1.44;-1.39;-1.37	3.93	3.0	0.34707	.	0.126462	0.53938	N	0.000041	D	0.93719	0.7993	H	0.97465	4.01	0.46499	A	0.999078	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	P;D;D;D;D;D	0.91635	0.891;0.982;0.997;0.995;0.959;0.999	D	0.96515	0.9381	9	0.87932	D	0	.	13.5812	0.61905	0.236:0.764:0.0:0.0	.	211;248;248;248;248;248	Q8NI15;P22607-2;P22607-4;P22607-3;P22607;F8W9L4	.;.;.;.;FGFR3_HUMAN;.	C	248;248;248;248;248;248;68	ENSP00000420533:R248C;ENSP00000339824:R248C;ENSP00000414914:R248C;ENSP00000412903:R248C;ENSP00000260795:R248C;ENSP00000231803:R248C;ENSP00000427289:R68C	ENSP00000260795:R248C	R	+	1	0	FGFR3	1773362	1.000000	0.71417	1.000000	0.80357	0.453000	0.32348	2.239000	0.43079	1.898000	0.54952	0.430000	0.28490	CGC		0.741	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2		NM_000142		6	37	0	0	0	0.00308	0	6	37		
FGFR3	2261	broad.mit.edu	37	4	1803568	1803568	+	Missense_Mutation	SNP	C	C	G	rs121913483		TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNASeq			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr4:1803568C>G	ENST00000260795.2	+	6	848	c.746C>G	c.(745-747)tCc>tGc	p.S249C	FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C|FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C|FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C|FGFR3_ENST00000340107.4_Missense_Mutation_p.S249C			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	249			S -> C (in KERSEB, bladder cancer, cervical cancer and TD1). {ECO:0000269|PubMed:10360402, ECO:0000269|PubMed:10471491, ECO:0000269|PubMed:15772091, ECO:0000269|PubMed:8589699, ECO:0000269|PubMed:8845844}.		alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)	p.S249C(1204)|p.R248_S249del(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	ACAGAGCGCTCCCCGCACCGG	0.736		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome																													uc003gdr.3		1		Dom	yes		4	4p16.3	2261	Mis|T	fibroblast growth factor receptor 3	yes	Hypochondroplasia|Thanatophoric dysplasia	"""L, E"""	IGH@|ETV6		bladder|MM|T-cell lymphoma		1205	Substitution - Missense(1204)|Deletion - In frame(1)	p.S249C(1368)|p.R248_S249insC(2)|p.S249T(1)|p.R248_S249del(1)	urinary_tract(1168)|skin(27)|cervix(5)|lung(4)|upper_aerodigestive_tract(1)	urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600	GRCh37	CM950470	FGFR3	M	rs121913483	c.(745-747)TCC>TGC		fibroblast growth factor receptor 3 isoform 1	Palifermin(DB00039)						13.0	16.0	15.0					4																	1803568		2180	4267	6447	SO:0001583	missense	2261	Muenke_syndrome|Saethre-Chotzen_syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1803568C>G	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.746C>G	4.37:g.1803568C>G	ENSP00000260795:p.Ser249Cys					FGFR3_uc003gdu.2_Missense_Mutation_p.S249C|FGFR3_uc003gds.3_Missense_Mutation_p.S249C|FGFR3_uc003gdq.3_Missense_Mutation_p.S249C|FGFR3_uc010icb.1_Missense_Mutation_p.S91C|FGFR3_uc003gdt.1_Missense_Mutation_p.S91C	p.S249C	NM_000142	NP_000133	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		7	1002	+		Breast(71;0.212)|all_epithelial(65;0.241)	249		S -> C (in KERSEB, bladder cancer, cervical cancer and TD1).	Extracellular (Potential).		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	37	c.746C>G	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	c	18.75	3.690127	0.68271	.	.	ENSG00000068078	ENST00000481110;ENST00000340107;ENST00000440486;ENST00000412135;ENST00000260795;ENST00000352904;ENST00000507588	D;T;T;T;T;T;T	0.82081	-1.57;-1.35;-1.33;-1.33;-1.33;-1.33;-1.32	3.94	3.94	0.45596	.	0.000000	0.85682	D	0.000000	D	0.92808	0.7713	M	0.92412	3.305	0.30597	A	0.239052	D;D;D;D;D;D	0.89917	0.998;0.997;1.0;1.0;1.0;1.0	P;D;D;D;D;D	0.80764	0.906;0.978;0.983;0.994;0.968;0.993	D	0.94822	0.7988	9	0.72032	D	0.01	.	16.2883	0.82736	0.0:1.0:0.0:0.0	.	212;249;249;249;249;249	Q8NI15;P22607-2;P22607-4;P22607-3;P22607;F8W9L4	.;.;.;.;FGFR3_HUMAN;.	C	249;249;249;249;249;249;69	ENSP00000420533:S249C;ENSP00000339824:S249C;ENSP00000414914:S249C;ENSP00000412903:S249C;ENSP00000260795:S249C;ENSP00000231803:S249C;ENSP00000427289:S69C	ENSP00000260795:S249C	S	+	2	0	FGFR3	1773366	1.000000	0.71417	1.000000	0.80357	0.445000	0.32107	7.424000	0.80242	1.903000	0.55091	0.436000	0.28706	TCC		0.736	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2		NM_000142		7	37	0	0	0	0.006214	0	7	37		
STX18	53407	broad.mit.edu	37	4	4459161	4459161	+	Missense_Mutation	SNP	T	T	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr4:4459161T>A	ENST00000306200.2	-	4	482	c.419A>T	c.(418-420)gAt>gTt	p.D140V	STX18_ENST00000505286.1_Missense_Mutation_p.D140V	NM_016930.2	NP_058626.1	Q9P2W9	STX18_HUMAN	syntaxin 18	140					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.0534)		TTTCAAGTAATCTTCAATGAA	0.378																																						uc003gic.2		NaN																	0					0						c.(418-420)GAT>GTT		syntaxin 18							68.0	68.0	68.0					4																	4459161		2203	4300	6503	SO:0001583	missense	53407				ER to Golgi vesicle-mediated transport|intracellular protein transport	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	SNAP receptor activity	g.chr4:4459161T>A	AB028741	CCDS3377.1	4p16.3-p16.2	2013-09-23			ENSG00000168818	ENSG00000168818			15942	protein-coding gene	gene with protein product		606046				10788491	Standard	NM_016930		Approved	Ufe1	uc003gic.3	Q9P2W9	OTTHUMG00000090331	ENST00000306200.2:c.419A>T	4.37:g.4459161T>A	ENSP00000305810:p.Asp140Val						p.D140V	NM_016930	NP_058626	Q9P2W9	STX18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.0534)	4	503	-			140			Cytoplasmic (Potential).		Q596L3|Q5TZP5	Missense_Mutation	SNP	ENST00000306200.2	37	c.419A>T	CCDS3377.1	.	.	.	.	.	.	.	.	.	.	T	12.48	1.949151	0.34377	.	.	ENSG00000168818	ENST00000505286;ENST00000306200;ENST00000512195;ENST00000507908	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	4.97	4.97	0.65823	.	0.307999	0.36167	N	0.002745	T	0.42200	0.1192	L	0.43152	1.355	0.80722	D	1	B	0.11235	0.004	B	0.09377	0.004	T	0.30416	-0.9979	10	0.48119	T	0.1	-8.182	14.9833	0.71327	0.0:0.0:0.0:1.0	.	140	Q9P2W9	STX18_HUMAN	V	140;140;59;59	ENSP00000426648:D140V;ENSP00000305810:D140V;ENSP00000425483:D59V;ENSP00000422376:D59V	ENSP00000305810:D140V	D	-	2	0	STX18	4510062	1.000000	0.71417	0.973000	0.42090	0.998000	0.95712	2.470000	0.45119	2.006000	0.58801	0.533000	0.62120	GAT		0.378	STX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206696.1				32	21	0	0	0	0.010818	0	32	21		
ACOX3	8310	broad.mit.edu	37	4	8383332	8383332	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr4:8383332C>T	ENST00000356406.5	-	14	1617	c.1540G>A	c.(1540-1542)Gcc>Acc	p.A514T	ACOX3_ENST00000413009.2_Missense_Mutation_p.A514T|ACOX3_ENST00000503233.1_Missense_Mutation_p.A514T	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	514					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						GCTGCCAGGGCGACTTCGGAA	0.468																																						uc010idk.2		NaN																	0				central_nervous_system(1)	1						c.(1540-1542)GCC>ACC		acyl-Coenzyme A oxidase 3 isoform a							78.0	84.0	82.0					4																	8383332		2203	4300	6503	SO:0001583	missense	8310				bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity	g.chr4:8383332C>T	Y11411	CCDS3401.1, CCDS47017.1	4p15.3	2010-04-30	2010-04-30		ENSG00000087008	ENSG00000087008	1.3.3.6		121	protein-coding gene	gene with protein product		603402	"""acyl-Coenzyme A oxidase 3, pristanoyl"""			9271077	Standard	NM_003501		Approved		uc003glc.4	O15254	OTTHUMG00000090509	ENST00000356406.5:c.1540G>A	4.37:g.8383332C>T	ENSP00000348775:p.Ala514Thr					ACOX3_uc003glc.3_Missense_Mutation_p.A514T|ACOX3_uc003gld.3_Missense_Mutation_p.A514T|ACOX3_uc003gle.1_Missense_Mutation_p.A419T	p.A514T	NM_003501	NP_003492	O15254	ACOX3_HUMAN			14	1685	-			514					Q96AJ8	Missense_Mutation	SNP	ENST00000356406.5	37	c.1540G>A	CCDS3401.1	.	.	.	.	.	.	.	.	.	.	C	8.204	0.798841	0.16397	.	.	ENSG00000087008	ENST00000413009;ENST00000356406;ENST00000503233	T;T;T	0.42900	0.96;0.96;0.96	4.96	-3.37	0.04898	Acyl-CoA oxidase, C-terminal (1);Acyl-CoA dehydrogenase/oxidase C-terminal (2);	0.254097	0.40144	N	0.001170	T	0.30885	0.0779	L	0.59436	1.845	0.25474	N	0.987796	P;P;P	0.45768	0.813;0.866;0.813	B;B;B	0.40444	0.329;0.103;0.166	T	0.31668	-0.9935	10	0.36615	T	0.2	-22.8789	7.6595	0.28394	0.2755:0.4464:0.2782:0.0	.	514;514;514	B2R856;O15254-2;O15254	.;.;ACOX3_HUMAN	T	514	ENSP00000413994:A514T;ENSP00000348775:A514T;ENSP00000421625:A514T	ENSP00000348775:A514T	A	-	1	0	ACOX3	8434232	0.989000	0.36119	0.503000	0.27626	0.646000	0.38490	0.390000	0.20768	-0.579000	0.05952	-0.165000	0.13383	GCC		0.468	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206997.4				27	44	0	0	0	0.004656	0	27	44		
WDR1	9948	broad.mit.edu	37	4	10084738	10084738	+	Silent	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr4:10084738C>A	ENST00000499869.2	-	10	1297	c.1104G>T	c.(1102-1104)gtG>gtT	p.V368V	WDR1_ENST00000502702.1_Silent_p.V228V|WDR1_ENST00000382452.2_Silent_p.V368V|WDR1_ENST00000382451.2_Silent_p.V228V|WDR1_ENST00000515743.1_5'UTR			O75083	WDR1_HUMAN	WD repeat domain 1	368					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sensory perception of sound (GO:0007605)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		TCATCCTGGACACCTGGTTCG	0.602																																						uc003gmf.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(1102-1104)GTG>GTT		WD repeat-containing protein 1 isoform 1							56.0	64.0	62.0					4																	10084738		2108	4220	6328	SO:0001819	synonymous_variant	9948				platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding	g.chr4:10084738C>A	AF020260	CCDS54739.1, CCDS54740.1	4p16.1	2013-01-09			ENSG00000071127	ENSG00000071127		"""WD repeat domain containing"""	12754	protein-coding gene	gene with protein product		604734				10036186	Standard	NM_017491		Approved		uc021xlv.1	O75083	OTTHUMG00000160253	ENST00000499869.2:c.1104G>T	4.37:g.10084738C>A						WDR1_uc003gmg.2_Silent_p.V228V|WDR1_uc010idm.2_RNA	p.V368V	NM_017491	NP_059830	O75083	WDR1_HUMAN		STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)	10	1387	-			368			WD 7.		A8K6E9|A8MPU4|O75313|Q8N6E5|Q9UG05|Q9UG78|Q9UQE0	Silent	SNP	ENST00000499869.2	37	c.1104G>T	CCDS54740.1																																																																																				0.602	WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359877.1				18	26	1	0	5.03518e-11	0.007413	5.5447e-11	18	26		
WDR1	9948	broad.mit.edu	37	4	10100674	10100674	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr4:10100674C>A	ENST00000499869.2	-	4	512	c.319G>T	c.(319-321)Gac>Tac	p.D107Y	WDR1_ENST00000502702.1_Intron|WDR1_ENST00000382452.2_Missense_Mutation_p.D107Y|WDR1_ENST00000382451.2_Intron			O75083	WDR1_HUMAN	WD repeat domain 1	107					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sensory perception of sound (GO:0007605)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CAAGCAATGTCTTTGATCTTC	0.557																																						uc003gmf.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(319-321)GAC>TAC		WD repeat-containing protein 1 isoform 1							134.0	142.0	140.0					4																	10100674		2059	4203	6262	SO:0001583	missense	9948				platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding	g.chr4:10100674C>A	AF020260	CCDS54739.1, CCDS54740.1	4p16.1	2013-01-09			ENSG00000071127	ENSG00000071127		"""WD repeat domain containing"""	12754	protein-coding gene	gene with protein product		604734				10036186	Standard	NM_017491		Approved		uc021xlv.1	O75083	OTTHUMG00000160253	ENST00000499869.2:c.319G>T	4.37:g.10100674C>A	ENSP00000427687:p.Asp107Tyr					WDR1_uc003gmg.2_Intron	p.D107Y	NM_017491	NP_059830	O75083	WDR1_HUMAN		STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)	4	602	-			107			WD 2.		A8K6E9|A8MPU4|O75313|Q8N6E5|Q9UG05|Q9UG78|Q9UQE0	Missense_Mutation	SNP	ENST00000499869.2	37	c.319G>T	CCDS54740.1	.	.	.	.	.	.	.	.	.	.	C	32	5.160383	0.94727	.	.	ENSG00000071127	ENST00000499869;ENST00000382452;ENST00000508079	T;T;T	0.56611	1.47;1.47;0.45	5.91	5.91	0.95273	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.81039	0.4740	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85057	0.0932	10	0.87932	D	0	-50.0941	19.2934	0.94112	0.0:1.0:0.0:0.0	.	107	O75083	WDR1_HUMAN	Y	107;107;111	ENSP00000427687:D107Y;ENSP00000371890:D107Y;ENSP00000425481:D111Y	ENSP00000371890:D107Y	D	-	1	0	WDR1	9709772	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.450000	0.80656	2.808000	0.96608	0.655000	0.94253	GAC		0.557	WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359877.1				50	79	1	0	2.0833e-19	0.01441	2.51355e-19	50	79		
AMBN	258	broad.mit.edu	37	4	71472154	71472154	+	Missense_Mutation	SNP	G	G	A	rs141401324		TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr4:71472154G>A	ENST00000322937.6	+	13	1154	c.1051G>A	c.(1051-1053)Gca>Aca	p.A351T	AMBN_ENST00000449493.2_Missense_Mutation_p.A336T	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	351					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|odontogenesis of dentin-containing tooth (GO:0042475)	proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|structural constituent of tooth enamel (GO:0030345)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			TGCTCCCCACGCAGGGCTCCT	0.587													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19726	0.0		0.0	False		,,,				2504	0.0					uc003hfl.2		NaN																	0				ovary(3)|skin(1)	4						c.(1051-1053)GCA>ACA		ameloblastin precursor							50.0	49.0	49.0					4																	71472154		2202	4300	6502	SO:0001583	missense	258				bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel	g.chr4:71472154G>A	AF209780	CCDS3543.1	4q21	2006-11-28	2006-04-27		ENSG00000178522	ENSG00000178522			452	protein-coding gene	gene with protein product		601259	"""ameloblastin, enamel matrix protein"""			9126491	Standard	NM_016519		Approved		uc003hfl.3	Q9NP70	OTTHUMG00000129913	ENST00000322937.6:c.1051G>A	4.37:g.71472154G>A	ENSP00000313809:p.Ala351Thr						p.A351T	NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	Lung(101;0.235)		13	1126	+			351					Q3B862|Q9H2X1|Q9H4L1	Missense_Mutation	SNP	ENST00000322937.6	37	c.1051G>A	CCDS3543.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	11.26	1.585972	0.28268	.	.	ENSG00000178522	ENST00000322937;ENST00000538728;ENST00000449493	T;T	0.31769	1.48;1.48	5.7	3.03	0.35002	.	0.335278	0.28031	N	0.016878	T	0.18087	0.0434	N	0.19112	0.55	0.21802	N	0.99954	B	0.24483	0.104	B	0.26770	0.073	T	0.16988	-1.0384	10	0.48119	T	0.1	-1.1794	5.9588	0.19289	0.1696:0.1565:0.6739:0.0	.	351	Q9NP70	AMBN_HUMAN	T	351;350;336	ENSP00000313809:A351T;ENSP00000391234:A336T	ENSP00000313809:A351T	A	+	1	0	AMBN	71506743	0.056000	0.20664	0.404000	0.26397	0.004000	0.04260	0.928000	0.28831	0.341000	0.23771	-0.282000	0.10007	GCA		0.587	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252165.1		NM_016519		11	40	0	0	0	0.008291	0	11	40		
NPFFR2	10886	broad.mit.edu	37	4	73013158	73013158	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr4:73013158G>A	ENST00000308744.6	+	4	1296	c.1198G>A	c.(1198-1200)Gac>Aac	p.D400N	NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000395999.1_Missense_Mutation_p.D301N|NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000358749.3_Missense_Mutation_p.D298N	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	400					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			GATGCTCTCAGACTACGCTGA	0.478																																						uc003hgg.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1198-1200)GAC>AAC		neuropeptide FF receptor 2 isoform 1							96.0	91.0	92.0					4																	73013158		2203	4300	6503	SO:0001583	missense	10886				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	g.chr4:73013158G>A	AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"""GPCR / Class A :  Neuropeptide receptors : FF/AF"", ""GPCR / Class A : RF amide peptide receptors"""	4525	protein-coding gene	gene with protein product	"""neuropeptide FF 2"""	607449	"""G protein-coupled receptor 74"""	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.1198G>A	4.37:g.73013158G>A	ENSP00000307822:p.Asp400Asn					NPFFR2_uc010iig.1_Missense_Mutation_p.D182N|NPFFR2_uc003hgi.2_Missense_Mutation_p.D301N|NPFFR2_uc003hgh.2_Missense_Mutation_p.D298N|NPFFR2_uc003hgj.2_RNA	p.D400N	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)		4	1296	+			400			Extracellular (Potential).		Q96RV1|Q9NR49	Missense_Mutation	SNP	ENST00000308744.6	37	c.1198G>A	CCDS3551.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.339560	0.60963	.	.	ENSG00000056291	ENST00000308744;ENST00000395999;ENST00000358749	T;T;T	0.37058	1.22;1.22;1.22	5.91	5.07	0.68467	GPCR, rhodopsin-like superfamily (1);	0.094460	0.46758	D	0.000273	T	0.65719	0.2718	M	0.87269	2.87	0.80722	D	1	D;D	0.76494	0.999;0.995	D;D	0.74674	0.976;0.984	T	0.72754	-0.4198	10	0.56958	D	0.05	.	16.9321	0.86192	0.0:0.1279:0.8721:0.0	.	301;400	Q9Y5X5-3;Q9Y5X5	.;NPFF2_HUMAN	N	400;301;298	ENSP00000307822:D400N;ENSP00000379321:D301N;ENSP00000351599:D298N	ENSP00000307822:D400N	D	+	1	0	NPFFR2	73232022	1.000000	0.71417	1.000000	0.80357	0.058000	0.15608	7.856000	0.86956	1.494000	0.48533	0.655000	0.94253	GAC		0.478	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2		NM_004885		49	49	0	0	0	0.01441	0	49	49		
PARM1	25849	broad.mit.edu	37	4	75937717	75937717	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr4:75937717G>T	ENST00000307428.7	+	2	338	c.126G>T	c.(124-126)tgG>tgT	p.W42C	PARM1_ENST00000513238.1_Intron|RP11-44F21.2_ENST00000513770.1_RNA	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	42					positive regulation of telomerase activity (GO:0051973)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						CCACCATCTGGACTAGCTCTC	0.522																																						uc003hih.1		NaN																	0				ovary(1)	1						c.(124-126)TGG>TGT		prostatic androgen-repressed message-1							144.0	134.0	137.0					4																	75937717		2093	4234	6327	SO:0001583	missense	25849				positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane		g.chr4:75937717G>T	AK022311	CCDS47077.1	4q13.3-q21.3	2010-02-17	2009-09-28		ENSG00000169116	ENSG00000169116			24536	protein-coding gene	gene with protein product	"""Prostatic androgen-repressed message 1"", ""Castration-induced prostatic apoptosis-related protein 1"", ""WSC4, cell wall integrity and stress response component 4 homolog (S. cerevisiae)"""					10499539, 12772192, 18027867	Standard	NM_015393		Approved	DKFZP564O0823, Cipar1, WSC4	uc003hih.2	Q6UWI2	OTTHUMG00000160827	ENST00000307428.7:c.126G>T	4.37:g.75937717G>T	ENSP00000370224:p.Trp42Cys						p.W42C	NM_015393	NP_056208	Q6UWI2	PARM1_HUMAN			2	366	+			42			Extracellular (Potential).		B3KMQ9|Q96DV8|Q9Y4S1	Missense_Mutation	SNP	ENST00000307428.7	37	c.126G>T	CCDS47077.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.251475	0.39797	.	.	ENSG00000169116	ENST00000307428	T	0.75154	-0.91	5.43	5.43	0.79202	.	0.112416	0.41294	D	0.000905	T	0.79822	0.4512	L	0.36672	1.1	0.58432	D	0.999995	D	0.89917	1.0	D	0.70935	0.971	T	0.80151	-0.1502	10	0.51188	T	0.08	-1.4372	14.7254	0.69341	0.0:0.0:1.0:0.0	.	42	Q6UWI2	PARM1_HUMAN	C	42	ENSP00000370224:W42C	ENSP00000370224:W42C	W	+	3	0	PARM1	76156741	1.000000	0.71417	0.985000	0.45067	0.017000	0.09413	4.406000	0.59748	2.539000	0.85634	0.563000	0.77884	TGG		0.522	PARM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362494.1		NM_015393		32	56	1	0	2.80507e-11	0.012213	3.11363e-11	32	56		
WDFY3	23001	broad.mit.edu	37	4	85598394	85598394	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr4:85598394C>G	ENST00000295888.4	-	67	10822	c.10415G>C	c.(10414-10416)aGa>aCa	p.R3472T	WDFY3_ENST00000322366.6_Missense_Mutation_p.R3455T	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3472	Interaction with ATG5.|Interaction with SQSTM1.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ATGGTGTCGTCTTTCTGTGAG	0.468																																						uc003hpd.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(10414-10416)AGA>ACA		WD repeat and FYVE domain containing 3 isoform							91.0	88.0	89.0					4																	85598394		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85598394C>G	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.10415G>C	4.37:g.85598394C>G	ENSP00000295888:p.Arg3472Thr					WDFY3_uc003hpc.2_Missense_Mutation_p.R227T	p.R3472T	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	67	10823	-		Hepatocellular(203;0.114)	3472			FYVE-type.		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.10415G>C	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.441838	0.83993	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.80994	-1.44;-1.44	5.39	5.39	0.77823	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.92648	0.7664	M	0.93197	3.39	0.80722	D	1	D	0.59357	0.985	D	0.72338	0.977	D	0.94041	0.7309	10	0.87932	D	0	.	19.4989	0.95085	0.0:1.0:0.0:0.0	.	3472	Q8IZQ1	WDFY3_HUMAN	T	3455;3472	ENSP00000318466:R3455T;ENSP00000295888:R3472T	ENSP00000295888:R3472T	R	-	2	0	WDFY3	85817418	0.959000	0.32827	0.152000	0.22495	0.729000	0.41735	7.438000	0.80431	2.678000	0.91216	0.655000	0.94253	AGA		0.468	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2		NM_014991		35	71	0	0	0	0.005524	0	35	71		
MMRN1	22915	broad.mit.edu	37	4	90856744	90856744	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr4:90856744A>G	ENST00000394980.1	+	7	2232	c.1913A>G	c.(1912-1914)cAa>cGa	p.Q638R	MMRN1_ENST00000264790.2_Missense_Mutation_p.Q638R|MMRN1_ENST00000508372.1_Missense_Mutation_p.Q380R|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	638					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		ATGAGTGAGCAACTAAATGAT	0.378																																						uc003hst.2		NaN																	0				ovary(4)	4						c.(1912-1914)CAA>CGA		multimerin 1							81.0	78.0	79.0					4																	90856744		2203	4300	6503	SO:0001583	missense	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90856744A>G	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.1913A>G	4.37:g.90856744A>G	ENSP00000378431:p.Gln638Arg					MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Missense_Mutation_p.Q380R	p.Q638R	NM_007351	NP_031377	Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	6	1984	+		Hepatocellular(203;0.114)	638			Potential.		Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	c.1913A>G	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	A	11.79	1.744482	0.30865	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	T;T;T	0.68181	-0.01;-0.01;-0.31	5.06	5.06	0.68205	.	0.000000	0.64402	D	0.000002	T	0.74928	0.3781	L	0.41236	1.265	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.74556	-0.3626	10	0.40728	T	0.16	.	15.5236	0.75885	1.0:0.0:0.0:0.0	.	638	Q13201	MMRN1_HUMAN	R	638;638;380	ENSP00000378431:Q638R;ENSP00000264790:Q638R;ENSP00000426461:Q380R	ENSP00000264790:Q638R	Q	+	2	0	MMRN1	91075767	1.000000	0.71417	1.000000	0.80357	0.674000	0.39518	4.378000	0.59568	2.194000	0.70268	0.533000	0.62120	CAA		0.378	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2		NM_007351		38	66	0	0	0	0.005524	0	38	66		
GRID2	2895	broad.mit.edu	37	4	94343960	94343960	+	Silent	SNP	T	T	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr4:94343960T>A	ENST00000282020.4	+	10	1644	c.1386T>A	c.(1384-1386)ggT>ggA	p.G462G	GRID2_ENST00000510992.1_Silent_p.G367G	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	462				G -> C (in Ref. 1; AAC39579). {ECO:0000305}.	cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		ATGTCTTGGGTAAGCCGAAGA	0.383																																						uc011cdt.1		NaN																	0				ovary(3)|skin(2)|large_intestine(1)	6						c.(1384-1386)GGT>GGA		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						96.0	97.0	96.0					4																	94343960		2203	4300	6503	SO:0001819	synonymous_variant	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94343960T>A	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1386T>A	4.37:g.94343960T>A						GRID2_uc011cdu.1_Silent_p.G367G	p.G462G	NM_001510	NP_001501	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	10	1644	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	462	G -> C (in Ref. 1; AAC39579).		Extracellular (Potential).		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Silent	SNP	ENST00000282020.4	37	c.1386T>A	CCDS3637.1																																																																																				0.383	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2				33	33	0	0	0	0.013726	0	33	33		
UNC5C	8633	broad.mit.edu	37	4	96222783	96222783	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr4:96222783C>T	ENST00000453304.1	-	3	812	c.464G>A	c.(463-465)aGc>aAc	p.S155N	UNC5C_ENST00000506749.1_Missense_Mutation_p.S155N|UNC5C_ENST00000504962.1_Missense_Mutation_p.S155N	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	155	Ig-like.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CGCCTTCCGGCTCTTTGTGGT	0.498																																						uc003htp.1		NaN																	0				ovary(3)|pancreas(1)	4						c.(463-465)AGC>AAC		unc5C precursor							108.0	90.0	96.0					4																	96222783		2203	4300	6503	SO:0001583	missense	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96222783C>T	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.464G>A	4.37:g.96222783C>T	ENSP00000406022:p.Ser155Asn					UNC5C_uc010ilc.1_Missense_Mutation_p.S155N|UNC5C_uc003htq.2_Missense_Mutation_p.S155N	p.S155N	NM_003728	NP_003719	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	3	618	-		Hepatocellular(203;0.114)	155			Extracellular (Potential).|Ig-like.		Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	c.464G>A	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	C	34	5.336322	0.95758	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796;ENST00000506749;ENST00000504962	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	5.57	5.57	0.84162	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.61060	0.2317	M	0.90145	3.09	0.80722	D	1	D;D;D	0.89917	1.0;0.993;0.967	D;D;P	0.72338	0.977;0.968;0.878	T	0.69072	-0.5242	10	0.87932	D	0	.	19.5525	0.95326	0.0:1.0:0.0:0.0	.	155;155;155	A8K385;E0CX15;O95185	.;.;UNC5C_HUMAN	N	155;114;155;155;155	ENSP00000406022:S155N;ENSP00000426924:S155N;ENSP00000426153:S155N;ENSP00000425117:S155N	ENSP00000328673:S114N	S	-	2	0	UNC5C	96441806	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.755000	0.85180	2.626000	0.88956	0.650000	0.86243	AGC		0.498	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1		NM_003728		49	40	0	0	0	0.01441	0	49	40		
NPNT	255743	broad.mit.edu	37	4	106858277	106858277	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr4:106858277C>T	ENST00000379987.2	+	4	593	c.377C>T	c.(376-378)tCc>tTc	p.S126F	NPNT_ENST00000513430.1_3'UTR|NPNT_ENST00000305572.8_Missense_Mutation_p.S126F|NPNT_ENST00000506666.1_Missense_Mutation_p.S156F|NPNT_ENST00000514622.1_Missense_Mutation_p.S126F|NPNT_ENST00000453617.2_Missense_Mutation_p.S143F|NPNT_ENST00000427316.2_Missense_Mutation_p.S156F	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	126	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		CCGGATGGTTCCTGCTCAAGT	0.488																																						uc003hya.2		NaN																	0				skin(1)	1						c.(376-378)TCC>TTC		nephronectin precursor							171.0	140.0	150.0					4																	106858277		2203	4300	6503	SO:0001583	missense	255743				cell differentiation	membrane	calcium ion binding	g.chr4:106858277C>T		CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.377C>T	4.37:g.106858277C>T	ENSP00000369323:p.Ser126Phe					NPNT_uc011cfc.1_Missense_Mutation_p.S143F|NPNT_uc011cfd.1_Missense_Mutation_p.S156F|NPNT_uc011cfe.1_Missense_Mutation_p.S156F|NPNT_uc010ilt.1_Missense_Mutation_p.S126F|NPNT_uc011cff.1_Missense_Mutation_p.S126F|NPNT_uc010ilu.1_Missense_Mutation_p.S22F	p.S126F	NM_001033047	NP_001028219	Q6UXI9	NPNT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)	4	582	+		Hepatocellular(203;0.217)	126			EGF-like 2; calcium-binding (Potential).		A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	Missense_Mutation	SNP	ENST00000379987.2	37	c.377C>T	CCDS34046.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.014191	0.75161	.	.	ENSG00000168743	ENST00000504304;ENST00000379987;ENST00000453617;ENST00000427316;ENST00000514622;ENST00000305572;ENST00000506666;ENST00000503451	D;D;D;T;D;D;T;T	0.87334	-2.24;-2.24;-2.24;-1.03;-2.24;-2.24;-1.01;-0.19	5.05	5.05	0.67936	EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.158937	0.56097	D	0.000026	D	0.94205	0.8140	M	0.85197	2.74	0.50813	D	0.999892	D;D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.998;0.999;0.998;0.999	D;D;D;D;D;D;D	0.77557	0.987;0.986;0.99;0.986;0.99;0.977;0.99	D	0.94959	0.8106	10	0.87932	D	0	.	18.7966	0.91997	0.0:1.0:0.0:0.0	.	126;156;156;143;173;126;126	E9PF04;E9PE64;E9PCQ1;E9PCK8;D6RH31;Q6UXI9-2;Q6UXI9	.;.;.;.;.;.;NPNT_HUMAN	F	22;126;143;156;126;126;156;173	ENSP00000426951:S22F;ENSP00000369323:S126F;ENSP00000402884:S143F;ENSP00000389252:S156F;ENSP00000422044:S126F;ENSP00000302557:S126F;ENSP00000422474:S156F;ENSP00000426146:S173F	ENSP00000302557:S126F	S	+	2	0	NPNT	107077726	0.998000	0.40836	1.000000	0.80357	0.988000	0.76386	4.645000	0.61404	2.498000	0.84270	0.655000	0.94253	TCC		0.488	NPNT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364083.1		NM_198278		35	95	0	0	0	0.019004	0	35	95		
ANK2	287	broad.mit.edu	37	4	114276414	114276414	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr4:114276414C>A	ENST00000357077.4	+	38	6693	c.6640C>A	c.(6640-6642)Ccg>Acg	p.P2214T	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.P2181T	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2214					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)		AGCCGGCTCTCCGTGTGGCAG	0.517																																						uc003ibe.3		NaN																	0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(6640-6642)CCG>ACG		ankyrin 2 isoform 1							71.0	74.0	73.0					4																	114276414		2203	4299	6502	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114276414C>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.6640C>A	4.37:g.114276414C>A	ENSP00000349588:p.Pro2214Thr					ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.P2229T	p.P2214T	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	6740	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2181					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.6640C>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.882668	0.51908	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.78816	-1.2;-1.21	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000018	D	0.87585	0.6214	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.91635	0.861;0.999	D	0.86025	0.1509	9	.	.	.	.	20.0018	0.97417	0.0:1.0:0.0:0.0	.	2181;2214	Q01484;Q01484-4	ANK2_HUMAN;.	T	2214;2181	ENSP00000349588:P2214T;ENSP00000264366:P2181T	.	P	+	1	0	ANK2	114495863	0.997000	0.39634	0.196000	0.23383	0.591000	0.36615	4.926000	0.63433	2.793000	0.96121	0.655000	0.94253	CCG		0.517	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2		NM_001148		50	74	1	0	1.07234e-20	0.01441	1.31671e-20	50	74		
NDNF	79625	broad.mit.edu	37	4	121958321	121958321	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr4:121958321G>A	ENST00000379692.4	-	4	1331	c.805C>T	c.(805-807)Cag>Tag	p.Q269*	NDNF_ENST00000506900.1_5'UTR	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	269	Fibronectin type-III 1.				cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						GGCTTTGCCTGGAAACTGCGT	0.463																																						uc003idq.1		NaN																	0					0						c.(805-807)CAG>TAG		hypothetical protein LOC79625 precursor							85.0	85.0	85.0					4																	121958321		2203	4300	6503	SO:0001587	stop_gained	79625							g.chr4:121958321G>A	BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 31"""	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.805C>T	4.37:g.121958321G>A	ENSP00000369014:p.Gln269*						p.Q269*	NM_024574	NP_078850	Q8TB73	CD031_HUMAN			4	1332	-			269			Fibronectin type-III 1.		A8K0Q0|Q6UWE5|Q9H5P7	Nonsense_Mutation	SNP	ENST00000379692.4	37	c.805C>T	CCDS3717.2	.	.	.	.	.	.	.	.	.	.	G	29.7	5.030749	0.93575	.	.	ENSG00000173376	ENST00000379692	.	.	.	5.77	3.79	0.43588	.	0.362344	0.30177	N	0.010227	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-12.0556	6.1493	0.20303	0.1256:0.0:0.5806:0.2938	.	.	.	.	X	269	.	ENSP00000369014:Q269X	Q	-	1	0	NDNF	122177771	1.000000	0.71417	0.968000	0.41197	0.201000	0.24016	1.005000	0.29834	2.715000	0.92844	0.655000	0.94253	CAG		0.463	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256532.2		NM_024574		24	41	0	0	0	0.01892	0	24	41		
FAT4	79633	broad.mit.edu	37	4	126336381	126336381	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr4:126336381C>T	ENST00000394329.3	+	5	6276	c.6263C>T	c.(6262-6264)aCt>aTt	p.T2088I	FAT4_ENST00000335110.5_Missense_Mutation_p.T386I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2088	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATTGAGTACACTCTGCTGAAC	0.403																																						uc003ifj.3		NaN																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(6262-6264)ACT>ATT		FAT tumor suppressor homolog 4 precursor							129.0	132.0	131.0					4																	126336381		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126336381C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6263C>T	4.37:g.126336381C>T	ENSP00000377862:p.Thr2088Ile					FAT4_uc011cgp.1_Missense_Mutation_p.T386I	p.T2088I	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			5	6263	+			2088			Cadherin 20.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.6263C>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	11.81	1.750100	0.30955	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.52754	0.65;0.65	5.0	3.15	0.36227	Cadherin (4);Cadherin-like (1);	0.236516	0.20998	U	0.081901	T	0.45296	0.1335	L	0.28458	0.855	0.34278	D	0.681842	P;P	0.40360	0.714;0.626	B;P	0.50896	0.419;0.653	T	0.55566	-0.8121	10	0.33940	T	0.23	.	10.3094	0.43699	0.1189:0.6449:0.2362:0.0	.	386;2088	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	I	2088;386	ENSP00000377862:T2088I;ENSP00000335169:T386I	ENSP00000335169:T386I	T	+	2	0	FAT4	126555831	0.972000	0.33761	0.835000	0.33067	0.971000	0.66376	2.608000	0.46308	1.089000	0.41292	0.557000	0.71058	ACT		0.403	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2		NM_024582		97	91	0	0	0	0.01441	0	97	91		
ZNF827	152485	broad.mit.edu	37	4	146807045	146807045	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr4:146807045C>A	ENST00000508784.1	-	4	1759	c.1532G>T	c.(1531-1533)aGc>aTc	p.S511I	ZNF827_ENST00000513320.1_Missense_Mutation_p.S161I|ZNF827_ENST00000379448.4_Missense_Mutation_p.S511I			Q17R98	ZN827_HUMAN	zinc finger protein 827	511					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(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					CCCTCCCTGGCTAGTCCTCTC	0.602																																						uc003ikn.2		NaN																	0					0						c.(1531-1533)AGC>ATC		zinc finger protein 827							122.0	112.0	116.0					4																	146807045		2203	4300	6503	SO:0001583	missense	152485				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:146807045C>A	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.1532G>T	4.37:g.146807045C>A	ENSP00000421863:p.Ser511Ile					ZNF827_uc003ikm.2_Missense_Mutation_p.S511I|ZNF827_uc010iox.2_Missense_Mutation_p.S161I	p.S511I	NM_178835	NP_849157	Q17R98	ZN827_HUMAN			4	1580	-	all_hematologic(180;0.151)		511					B7ZL52|Q7Z4S7|Q8N279	Missense_Mutation	SNP	ENST00000508784.1	37	c.1532G>T		.	.	.	.	.	.	.	.	.	.	C	14.35	2.508420	0.44660	.	.	ENSG00000151612	ENST00000508784;ENST00000513320;ENST00000379448;ENST00000281318;ENST00000440280	T;T;T	0.08984	3.07;3.03;3.11	5.52	4.66	0.58398	.	0.391146	0.34411	N	0.003997	T	0.05914	0.0154	N	0.14661	0.345	0.28589	N	0.909723	B;B;B	0.31351	0.32;0.145;0.226	B;B;B	0.34138	0.176;0.085;0.176	T	0.23048	-1.0199	10	0.39692	T	0.17	-8.1312	9.6991	0.40175	0.0:0.7842:0.1423:0.0735	.	161;511;511	G5E9Z1;Q17R98;Q17R98-2	.;ZN827_HUMAN;.	I	511;161;511;510;161	ENSP00000421863:S511I;ENSP00000423130:S161I;ENSP00000368761:S511I	ENSP00000281318:S510I	S	-	2	0	ZNF827	147026495	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.794000	0.55492	1.298000	0.44778	0.561000	0.74099	AGC		0.602	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2		NM_178835		57	47	1	0	4.96213e-28	0.01441	6.41954e-28	57	47		
DCHS2	54798	broad.mit.edu	37	4	155158070	155158070	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr4:155158070C>A	ENST00000357232.4	-	25	6368	c.6369G>T	c.(6367-6369)tgG>tgT	p.W2123C		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2123	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTTCACGGGTCCAGTCATGGT	0.378																																						uc003inw.2		NaN																	0				ovary(3)|pancreas(1)	4						c.(6367-6369)TGG>TGT		dachsous 2 isoform 1							141.0	136.0	138.0					4																	155158070		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155158070C>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.6369G>T	4.37:g.155158070C>A	ENSP00000349768:p.Trp2123Cys						p.W2123C	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	6369	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2123			Cadherin 19.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.6369G>T	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.040802	0.35989	.	.	ENSG00000197410	ENST00000357232	T	0.37752	1.18	5.82	4.07	0.47477	Cadherin (4);Cadherin-like (1);	0.368026	0.27016	N	0.021341	T	0.47002	0.1422	L	0.47190	1.495	0.80722	D	1	D	0.76494	0.999	D	0.67382	0.951	T	0.30446	-0.9978	10	0.39692	T	0.17	.	8.5761	0.33598	0.0:0.7295:0.1315:0.1389	.	2123	Q6V1P9	PCD23_HUMAN	C	2123	ENSP00000349768:W2123C	ENSP00000349768:W2123C	W	-	3	0	DCHS2	155377520	1.000000	0.71417	0.774000	0.31636	0.543000	0.35085	3.018000	0.49625	0.775000	0.33450	0.557000	0.71058	TGG		0.378	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2		NM_001142552		58	70	1	0	6.3091e-27	0.01441	8.06809e-27	58	70		
FSTL5	56884	broad.mit.edu	37	4	162463736	162463736	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr4:162463736C>T	ENST00000306100.5	-	9	1561	c.1125G>A	c.(1123-1125)ttG>ttA	p.L375L	FSTL5_ENST00000427802.2_Silent_p.L374L|FSTL5_ENST00000536695.1_Silent_p.L374L|FSTL5_ENST00000511170.1_5'Flank|FSTL5_ENST00000379164.4_Silent_p.L374L	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	375	Ig-like 2.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TTCCATTCTTCAACCAGCCAA	0.443																																						uc003iqh.2		NaN																	0				ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8						c.(1123-1125)TTG>TTA		follistatin-like 5 isoform a							83.0	83.0	83.0					4																	162463736		2203	4299	6502	SO:0001819	synonymous_variant	56884					extracellular region	calcium ion binding	g.chr4:162463736C>T	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.1125G>A	4.37:g.162463736C>T						FSTL5_uc003iqi.2_Silent_p.L374L|FSTL5_uc010iqv.2_Silent_p.L374L	p.L375L	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	9	1561	-	all_hematologic(180;0.24)		375			Ig-like 2.		E9PCP6|Q9NSW7|Q9ULF7	Silent	SNP	ENST00000306100.5	37	c.1125G>A	CCDS3802.1																																																																																				0.443	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2		NM_020116		42	59	0	0	0	0.009718	0	42	59		
WDR17	116966	broad.mit.edu	37	4	177098267	177098267	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr4:177098267G>A	ENST00000280190.4	+	29	3781	c.3625G>A	c.(3625-3627)Gaa>Aaa	p.E1209K	WDR17_ENST00000393643.2_Missense_Mutation_p.E1185K|WDR17_ENST00000508596.1_Missense_Mutation_p.E1170K|WDR17_ENST00000507824.2_Missense_Mutation_p.E1184K			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1209										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TCTTTCTGAGGAATTGGATGC	0.363																																						uc003iuj.2		NaN																	0				ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6						c.(3625-3627)GAA>AAA		WD repeat domain 17 isoform 1							67.0	68.0	68.0					4																	177098267		2203	4299	6502	SO:0001583	missense	116966							g.chr4:177098267G>A	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.3625G>A	4.37:g.177098267G>A	ENSP00000280190:p.Glu1209Lys					WDR17_uc003iuk.2_Missense_Mutation_p.E1185K|WDR17_uc003ium.3_Missense_Mutation_p.E1170K|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Missense_Mutation_p.E420K	p.E1209K	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	29	3781	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	1209					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.3625G>A	CCDS3825.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.80|18.80	3.700599|3.700599	0.68501|0.68501	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824|ENST00000443118	T;T;T|.	0.57595|.	0.39;0.39;0.39|.	5.94|5.94	5.1|5.1	0.69264|0.69264	.|.	0.057103|.	0.64402|.	N|.	0.000002|.	T|T	0.74222|0.74222	0.3688|0.3688	M|M	0.73598|0.73598	2.24|2.24	0.58432|0.58432	D|D	0.999998|0.999998	D;D;D|.	0.76494|.	0.999;0.999;0.999|.	D;D;D|.	0.79784|.	0.993;0.991;0.991|.	T|T	0.74957|0.74957	-0.3487|-0.3487	10|5	0.51188|.	T|.	0.08|.	-34.1541|-34.1541	15.3663|15.3663	0.74526|0.74526	0.0667:0.0:0.9333:0.0|0.0667:0.0:0.9333:0.0	.|.	1185;1170;1209|.	E7EP77;E7EQX0;Q8IZU2|.	.;.;WDR17_HUMAN|.	K|E	1170;1185;1209;1185|443	ENSP00000422763:E1170K;ENSP00000377258:E1185K;ENSP00000280190:E1209K|.	ENSP00000280190:E1209K|.	E|G	+|+	1|2	0|0	WDR17|WDR17	177335261|177335261	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.283000|0.283000	0.27025|0.27025	8.852000|8.852000	0.92215|0.92215	1.532000|1.532000	0.49169|0.49169	0.644000|0.644000	0.83932|0.83932	GAA|GGA		0.363	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2				21	48	0	0	0	0.021523	0	21	48		
SNX25	83891	broad.mit.edu	37	4	186188167	186188167	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr4:186188167A>G	ENST00000504273.1	+	5	751	c.457A>G	c.(457-459)Aac>Gac	p.N153D	SNX25_ENST00000264694.8_Missense_Mutation_p.N153D			Q9H3E2	SNX25_HUMAN	sorting nexin 25	153	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		AGATTACATTAACCAAATGCT	0.453																																						uc003ixh.2		NaN																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(457-459)AAC>GAC		sorting nexin 25							100.0	91.0	94.0					4																	186188167		2203	4300	6503	SO:0001583	missense	83891				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr4:186188167A>G	AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"""Sorting nexins"""	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.457A>G	4.37:g.186188167A>G	ENSP00000426255:p.Asn153Asp						p.N153D	NM_031953	NP_114159	Q9H3E2	SNX25_HUMAN		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)	5	646	+		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	153			PXA.		Q3ZT30|Q8N6K3	Missense_Mutation	SNP	ENST00000504273.1	37	c.457A>G	CCDS34116.1	.	.	.	.	.	.	.	.	.	.	A	32	5.181258	0.94846	.	.	ENSG00000109762	ENST00000504273;ENST00000264694	T;T	0.39229	1.09;1.09	5.25	5.25	0.73442	Phox-associated domain (2);	0.000000	0.85682	D	0.000000	T	0.66713	0.2817	M	0.80183	2.485	0.54753	D	0.999989	D	0.76494	0.999	D	0.83275	0.996	T	0.71817	-0.4478	10	0.72032	D	0.01	-22.2539	15.3167	0.74085	1.0:0.0:0.0:0.0	.	153	Q9H3E2	SNX25_HUMAN	D	153	ENSP00000426255:N153D;ENSP00000264694:N153D	ENSP00000264694:N153D	N	+	1	0	SNX25	186425161	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.751000	0.91628	2.203000	0.70933	0.533000	0.62120	AAC		0.453	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1		NM_031953		37	65	0	0	0	0.006999	0	37	65		
TRIML1	339976	broad.mit.edu	37	4	189068457	189068457	+	Silent	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr4:189068457C>A	ENST00000332517.3	+	6	1478	c.1338C>A	c.(1336-1338)tcC>tcA	p.S446S	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	446	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CTATCTTTTCCCCCTGCCTCC	0.562																																					Melanoma(31;213 1036 16579 23968 32372)	uc003izm.1		NaN																	0				ovary(1)|pancreas(1)|breast(1)|skin(1)	4						c.(1336-1338)TCC>TCA		tripartite motif family-like 1							70.0	72.0	71.0					4																	189068457		2203	4300	6503	SO:0001819	synonymous_variant	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189068457C>A	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.1338C>A	4.37:g.189068457C>A						TRIML1_uc003izn.1_Silent_p.S170S	p.S446S	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	6	1453	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	446			B30.2/SPRY.		Q96BE5	Silent	SNP	ENST00000332517.3	37	c.1338C>A	CCDS3851.1																																																																																				0.562	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1		NM_178556		40	90	1	0	8.69298e-16	0.006999	1.00933e-15	40	90		
SLC12A7	10723	broad.mit.edu	37	5	1064299	1064299	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr5:1064299G>T	ENST00000264930.5	-	19	2549	c.2506C>A	c.(2506-2508)Caa>Aaa	p.Q836K	MIR4635_ENST00000583759.1_RNA	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	836					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TCCTGGTTTTGCGGAAACGAG	0.672																																						uc003jbu.2		NaN																	0				skin(2)|large_intestine(1)|ovary(1)	4						c.(2506-2508)CAA>AAA		solute carrier family 12 (potassium/chloride	Potassium Chloride(DB00761)						36.0	39.0	38.0					5																	1064299		2198	4297	6495	SO:0001583	missense	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1064299G>T	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.2506C>A	5.37:g.1064299G>T	ENSP00000264930:p.Gln836Lys						p.Q836K	NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		19	2572	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		836					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	c.2506C>A	CCDS34129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.984|0.984	-0.696240|-0.696240	0.03279|0.03279	.|.	.|.	ENSG00000113504|ENSG00000113504	ENST00000513223|ENST00000264930	.|D	.|0.81908	.|-1.55	4.26|4.26	4.26|4.26	0.50523|0.50523	.|.	.|0.606364	.|0.16011	.|N	.|0.233830	T|T	0.65450|0.65450	0.2692|0.2692	N|N	0.16790|0.16790	0.44|0.44	0.09310|0.09310	N|N	1|1	.|B	.|0.14012	.|0.009	.|B	.|0.14578	.|0.011	T|T	0.49771|0.49771	-0.8904|-0.8904	5|10	.|0.07482	.|T	.|0.82	.|.	7.5797|7.5797	0.27957|0.27957	0.0:0.1791:0.6367:0.1842|0.0:0.1791:0.6367:0.1842	.|.	.|836	.|Q9Y666	.|S12A7_HUMAN	E|K	193|836	.|ENSP00000264930:Q836K	.|ENSP00000264930:Q836K	A|Q	-|-	2|1	0|0	SLC12A7|SLC12A7	1117299|1117299	0.000000|0.000000	0.05858|0.05858	0.147000|0.147000	0.22382|0.22382	0.124000|0.124000	0.20399|0.20399	0.405000|0.405000	0.21015|0.21015	1.926000|1.926000	0.55796|0.55796	0.313000|0.313000	0.20887|0.20887	GCA|CAA		0.672	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2		NM_006598		15	29	1	0	2.23348e-06	0.004007	2.31698e-06	15	29		
SLC6A3	6531	broad.mit.edu	37	5	1441523	1441523	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr5:1441523G>T	ENST00000270349.9	-	3	496	c.369C>A	c.(367-369)ttC>ttA	p.F123L	SLC6A3_ENST00000453492.2_Missense_Mutation_p.F123L	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	123					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CTTCCCTGTTGAACTGGCCGA	0.587																																						uc003jck.2		NaN																	0				ovary(3)|breast(2)|pancreas(1)	6						c.(367-369)TTC>TTA		solute carrier family 6 (neurotransmitter	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)						58.0	54.0	55.0					5																	1441523		2203	4300	6503	SO:0001583	missense	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1441523G>T		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.369C>A	5.37:g.1441523G>T	ENSP00000270349:p.Phe123Leu						p.F123L	NM_001044	NP_001035	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		3	490	-			123					A2RUN4|Q14996	Missense_Mutation	SNP	ENST00000270349.9	37	c.369C>A	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.701953	0.30232	.	.	ENSG00000142319	ENST00000270349;ENST00000453492;ENST00000513308	T;T;T	0.75260	-0.92;-0.92;-0.92	3.64	3.64	0.41730	.	0.187718	0.47455	N	0.000226	T	0.79787	0.4506	M	0.79693	2.465	0.36772	D	0.88383	B	0.25272	0.122	B	0.39152	0.292	D	0.84642	0.0696	10	0.87932	D	0	.	13.1558	0.59516	0.0:0.0:1.0:0.0	.	123	Q01959	SC6A3_HUMAN	L	123;123;49	ENSP00000270349:F123L;ENSP00000399806:F123L;ENSP00000429101:F49L	ENSP00000270349:F123L	F	-	3	2	SLC6A3	1494523	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	1.987000	0.40687	1.735000	0.51646	0.561000	0.74099	TTC		0.587	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3		NM_001044		33	23	1	0	6.50621e-10	0.013726	7.05263e-10	33	23		
CCT5	22948	broad.mit.edu	37	5	10254301	10254301	+	Silent	SNP	A	A	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr5:10254301A>C	ENST00000280326.4	+	2	570	c.150A>C	c.(148-150)acA>acC	p.T50T	CCT5_ENST00000515390.1_Silent_p.T50T|CCT5_ENST00000515676.1_Silent_p.T12T|CCT5_ENST00000503026.1_Silent_p.T29T|CCT5_ENST00000506600.1_Silent_p.T12T	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	50					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|response to virus (GO:0009615)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleolus (GO:0005730)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|G-protein beta-subunit binding (GO:0031681)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						CAATGAGAACATCACTTGGAC	0.328																																						uc003jeq.2		NaN																	0				ovary(2)	2						c.(148-150)ACA>ACC		chaperonin containing TCP1, subunit 5 (epsilon)							98.0	96.0	96.0					5																	10254301		2203	4300	6503	SO:0001819	synonymous_variant	22948				'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding	g.chr5:10254301A>C	D43950	CCDS3877.1	5p15.2	2014-09-17			ENSG00000150753	ENSG00000150753		"""Heat Shock Proteins / Chaperonins"""	1618	protein-coding gene	gene with protein product		610150					Standard	NM_012073		Approved	KIAA0098	uc003jeq.3	P48643	OTTHUMG00000131042	ENST00000280326.4:c.150A>C	5.37:g.10254301A>C						CCT5_uc011cmq.1_Intron|CCT5_uc003jer.2_Silent_p.T50T|CCT5_uc010its.2_Silent_p.T50T|CCT5_uc011cmr.1_Silent_p.T50T|CCT5_uc011cms.1_Silent_p.T12T|CCT5_uc011cmt.1_Silent_p.T12T	p.T50T	NM_012073	NP_036205	P48643	TCPE_HUMAN			2	321	+			50					A8JZY8|A8K2X8|B4DYD8	Silent	SNP	ENST00000280326.4	37	c.150A>C	CCDS3877.1																																																																																				0.328	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253688.2				22	33	0	0	0	0.01892	0	22	33		
CTNND2	1501	broad.mit.edu	37	5	11199772	11199772	+	Splice_Site	SNP	A	A	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr5:11199772A>C	ENST00000304623.8	-	11	1952	c.1763T>G	c.(1762-1764)aTa>aGa	p.I588R	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Splice_Site_p.I497R|CTNND2_ENST00000458100.2_Splice_Site_p.I155R|CTNND2_ENST00000359640.2_Splice_Site_p.I588R|CTNND2_ENST00000503622.1_Splice_Site_p.I251R	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	588					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TTGTCTCCTTATCTGAAAGAG	0.448																																						uc003jfa.1		NaN																	0				large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(1762-1764)ATA>AGA		catenin (cadherin-associated protein), delta 2							70.0	67.0	68.0					5																	11199772		2203	4300	6503	SO:0001630	splice_region_variant	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11199772A>C	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1762-1T>G	5.37:g.11199772A>C						CTNND2_uc010itt.2_Missense_Mutation_p.I497R|CTNND2_uc011cmy.1_Missense_Mutation_p.I251R|CTNND2_uc011cmz.1_Missense_Mutation_p.I155R|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.I155R	p.I588R	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			11	1908	-			588			ARM 3.		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.1763T>G	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.450802	0.84209	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72	5.79	5.79	0.91817	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81059	0.4744	L	0.52573	1.65	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.998;0.998;0.996	T	0.82788	-0.0284	10	0.87932	D	0	-13.8319	16.1415	0.81528	1.0:0.0:0.0:0.0	.	251;155;588	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	R	588;588;497;155;251	ENSP00000307134:I588R;ENSP00000352661:I588R;ENSP00000426510:I497R;ENSP00000391155:I155R;ENSP00000426887:I251R	ENSP00000307134:I588R	I	-	2	0	CTNND2	11252772	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.950000	0.93019	2.198000	0.70561	0.533000	0.62120	ATA		0.448	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1		NM_001332	Missense_Mutation	20	30	0	0	0	0.007413	0	20	30		
FBXL7	23194	broad.mit.edu	37	5	15928355	15928355	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr5:15928355G>A	ENST00000504595.1	+	3	965	c.484G>A	c.(484-486)Gag>Aag	p.E162K	FBXL7_ENST00000510662.1_Missense_Mutation_p.E115K|FBXL7_ENST00000329673.7_Missense_Mutation_p.E150K	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	162					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CCTGACGGGCGAGACCATCAA	0.662																																						uc003jfn.1		NaN																	0				ovary(2)|lung(1)	3						c.(484-486)GAG>AAG		F-box and leucine-rich repeat protein 7							21.0	25.0	24.0					5																	15928355		2105	4219	6324	SO:0001583	missense	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15928355G>A	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.484G>A	5.37:g.15928355G>A	ENSP00000423630:p.Glu162Lys						p.E162K	NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN			3	965	+			162					B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	c.484G>A	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138487	0.77775	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.09538	2.97;2.98;2.97	5.36	5.36	0.76844	.	0.100477	0.64402	D	0.000002	T	0.13457	0.0326	L	0.59436	1.845	0.80722	D	1	B	0.33120	0.398	B	0.24974	0.057	T	0.04900	-1.0919	10	0.29301	T	0.29	.	19.0832	0.93190	0.0:0.0:1.0:0.0	.	162	Q9UJT9	FBXL7_HUMAN	K	162;115;150	ENSP00000423630:E162K;ENSP00000425184:E115K;ENSP00000329632:E150K	ENSP00000329632:E150K	E	+	1	0	FBXL7	15981355	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.827000	0.99397	2.520000	0.84964	0.561000	0.74099	GAG		0.662	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1		NM_012304		6	13	0	0	0	0.001168	0	6	13		
ADAMTS12	81792	broad.mit.edu	37	5	33576746	33576746	+	Missense_Mutation	SNP	A	A	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr5:33576746A>T	ENST00000504830.1	-	19	3720	c.3385T>A	c.(3385-3387)Ttg>Atg	p.L1129M	ADAMTS12_ENST00000504582.1_5'Flank|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.L1044M	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1129	Spacer 2.				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)			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						GAAGATGACAAGCCAGAACCA	0.483										HNSCC(64;0.19)																												uc003jia.1		NaN																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(3385-3387)TTG>ATG		ADAM metallopeptidase with thrombospondin type 1							99.0	93.0	95.0					5																	33576746		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33576746A>T	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.3385T>A	5.37:g.33576746A>T	ENSP00000422554:p.Leu1129Met	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.L1044M	p.L1129M	NM_030955	NP_112217	P58397	ATS12_HUMAN			19	3548	-			1129			Spacer 2.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.3385T>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	a	7.629	0.678368	0.14841	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.60920	0.15;0.15	5.32	2.88	0.33553	.	1.660190	0.02644	N	0.105697	T	0.52741	0.1753	L	0.29908	0.895	0.09310	N	0.999995	P;B	0.36837	0.571;0.435	B;B	0.42593	0.392;0.219	T	0.41251	-0.9519	10	0.34782	T	0.22	.	6.9554	0.24568	0.7746:0.1498:0.0756:0.0	.	1044;1129	P58397-3;P58397	.;ATS12_HUMAN	M	1129;1044	ENSP00000422554:L1129M;ENSP00000344847:L1044M	ENSP00000344847:L1044M	L	-	1	2	ADAMTS12	33612503	0.000000	0.05858	0.000000	0.03702	0.425000	0.31504	0.303000	0.19210	0.455000	0.26910	-0.261000	0.10672	TTG		0.483	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2		NM_030955		30	68	0	0	0	0.007291	0	30	68		
SPEF2	79925	broad.mit.edu	37	5	35700720	35700720	+	Missense_Mutation	SNP	A	A	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr5:35700720A>C	ENST00000356031.3	+	16	2418	c.2264A>C	c.(2263-2265)aAa>aCa	p.K755T	SPEF2_ENST00000440995.2_Missense_Mutation_p.K750T|SPEF2_ENST00000509059.1_Missense_Mutation_p.K750T|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	755					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAAAGAAAAAAAGCACAAAAA	0.383																																						uc003jjo.2		NaN																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(2263-2265)AAA>ACA		KPL2 protein isoform 1							122.0	110.0	114.0					5																	35700720		1835	4081	5916	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35700720A>C	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.2264A>C	5.37:g.35700720A>C	ENSP00000348314:p.Lys755Thr					SPEF2_uc003jjq.3_Missense_Mutation_p.K750T|SPEF2_uc003jjp.1_Missense_Mutation_p.K241T	p.K755T	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		16	2375	+	all_lung(31;7.56e-05)		755			Potential.		Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.2264A>C	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	A	5.643	0.303366	0.10678	.	.	ENSG00000152582	ENST00000356031;ENST00000509059;ENST00000440995;ENST00000504054	T;T;T;T	0.34072	3.22;3.11;3.22;1.38	5.79	-2.17	0.07059	.	0.644906	0.14744	N	0.301014	T	0.20981	0.0505	L	0.54323	1.7	0.09310	N	1	P;B;P	0.43231	0.801;0.372;0.491	B;B;B	0.35182	0.197;0.058;0.138	T	0.13150	-1.0520	10	0.36615	T	0.2	.	0.8346	0.01137	0.3454:0.2255:0.2726:0.1566	.	750;750;755	D6REZ4;Q9C093-2;Q9C093	.;.;SPEF2_HUMAN	T	755;750;750;261	ENSP00000348314:K755T;ENSP00000421593:K750T;ENSP00000412125:K750T;ENSP00000421744:K261T	ENSP00000348314:K755T	K	+	2	0	SPEF2	35736477	0.000000	0.05858	0.001000	0.08648	0.040000	0.13550	0.117000	0.15583	-0.091000	0.12440	0.533000	0.62120	AAA		0.383	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1		NM_144722		12	38	0	0	0	0.016723	0	12	38		
ITGA1	3672	broad.mit.edu	37	5	52183724	52183724	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr5:52183724C>G	ENST00000282588.6	+	8	1309	c.851C>G	c.(850-852)tCt>tGt	p.S284C		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	284	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				GATGGAGAGTCTCATGACAAT	0.423																																						uc003jou.2		NaN																	0				ovary(2)|lung(1)	3						c.(850-852)TCT>TGT		integrin, alpha 1 precursor							127.0	120.0	123.0					5																	52183724		2203	4300	6503	SO:0001583	missense	3672				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	g.chr5:52183724C>G	X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"""CD molecules"", ""Integrins"""	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.851C>G	5.37:g.52183724C>G	ENSP00000282588:p.Ser284Cys					ITGA1_uc003jov.2_RNA	p.S284C	NM_181501	NP_852478	P56199	ITA1_HUMAN			8	903	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	284			Extracellular (Potential).|VWFA.		B2RNU0	Missense_Mutation	SNP	ENST00000282588.6	37	c.851C>G	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	C	32	5.174524	0.94807	.	.	ENSG00000213949	ENST00000282588	D	0.86097	-2.07	5.78	5.78	0.91487	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.94195	0.8137	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94435	0.7653	10	0.66056	D	0.02	.	20.0118	0.97458	0.0:1.0:0.0:0.0	.	284	P56199	ITA1_HUMAN	C	284	ENSP00000282588:S284C	ENSP00000282588:S284C	S	+	2	0	ITGA1	52219481	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	7.416000	0.80143	2.744000	0.94065	0.563000	0.77884	TCT		0.423	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3		NM_181501		11	49	0	0	0	0.013537	0	11	49		
DMXL1	1657	broad.mit.edu	37	5	118485427	118485427	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr5:118485427C>A	ENST00000311085.8	+	18	3985	c.3905C>A	c.(3904-3906)cCt>cAt	p.P1302H	DMXL1_ENST00000539542.1_Missense_Mutation_p.P1302H	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1302										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GCATTCGATCCTTCAGTGGAT	0.438																																						uc003ksd.2		NaN																	0				ovary(2)	2						c.(3904-3906)CCT>CAT		Dmx-like 1							91.0	85.0	87.0					5																	118485427		2202	4300	6502	SO:0001583	missense	1657							g.chr5:118485427C>A	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.3905C>A	5.37:g.118485427C>A	ENSP00000309690:p.Pro1302His					DMXL1_uc010jcl.1_Missense_Mutation_p.P1302H	p.P1302H	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	18	4086	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	1302						Missense_Mutation	SNP	ENST00000311085.8	37	c.3905C>A	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.569407	0.28003	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.10099	2.91;2.91	5.56	4.46	0.54185	.	0.109018	0.64402	D	0.000004	T	0.08802	0.0218	N	0.14661	0.345	0.38209	D	0.940405	P;P	0.43477	0.663;0.808	B;P	0.50537	0.413;0.643	T	0.14090	-1.0485	10	0.34782	T	0.22	-16.1982	4.1102	0.10055	0.0:0.6834:0.0:0.3165	.	1302;1302	F5H269;Q9Y485	.;DMXL1_HUMAN	H	1302	ENSP00000309690:P1302H;ENSP00000439479:P1302H	ENSP00000309690:P1302H	P	+	2	0	DMXL1	118513326	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	4.756000	0.62205	2.778000	0.95560	0.655000	0.94253	CCT		0.438	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1		NM_005509		51	20	1	0	2.76378e-25	0.01441	3.50206e-25	51	20		
MEGF10	84466	broad.mit.edu	37	5	126754869	126754869	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr5:126754869C>T	ENST00000274473.6	+	12	1630	c.1363C>T	c.(1363-1365)Cgc>Tgc	p.R455C	MEGF10_ENST00000508365.1_Missense_Mutation_p.R455C|MEGF10_ENST00000503335.2_Missense_Mutation_p.R455C|MEGF10_ENST00000418761.2_Missense_Mutation_p.R455C	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	455	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CTGTTCCTCTCGCTGTGGCTG	0.458																																						uc003kuh.3		NaN																	0				ovary(4)	4						c.(1363-1365)CGC>TGC		multiple EGF-like-domains 10 precursor							253.0	235.0	241.0					5																	126754869		2203	4300	6503	SO:0001583	missense	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126754869C>T	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.1363C>T	5.37:g.126754869C>T	ENSP00000274473:p.Arg455Cys					MEGF10_uc010jdc.1_Missense_Mutation_p.R455C|MEGF10_uc010jdd.1_Missense_Mutation_p.R455C|MEGF10_uc003kui.3_Missense_Mutation_p.R455C	p.R455C	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	12	1725	+		Prostate(80;0.165)	455			Extracellular (Potential).|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.|EGF-like 8.		Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	c.1363C>T	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.617010	0.46736	.	.	ENSG00000145794	ENST00000503335;ENST00000508365;ENST00000418761;ENST00000274473	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	5.58	4.72	0.59763	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.906156	0.09323	N	0.817961	T	0.67382	0.2887	M	0.69358	2.11	0.23681	N	0.99712	B;B	0.34399	0.451;0.452	B;B	0.41946	0.371;0.044	T	0.62831	-0.6771	10	0.56958	D	0.05	-3.6377	3.3559	0.07169	0.1327:0.5723:0.1444:0.1506	.	455;455	Q96KG7-2;Q96KG7	.;MEG10_HUMAN	C	455	ENSP00000423354:R455C;ENSP00000423195:R455C;ENSP00000416284:R455C;ENSP00000274473:R455C	ENSP00000274473:R455C	R	+	1	0	MEGF10	126782768	0.131000	0.22433	0.988000	0.46212	0.997000	0.91878	0.815000	0.27253	1.487000	0.48415	0.655000	0.94253	CGC		0.458	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2		NM_032446		23	107	0	0	0	0.021523	0	23	107		
IRF1	3659	broad.mit.edu	37	5	131821922	131821922	+	Intron	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr5:131821922C>A	ENST00000245414.4	-	7	926				IRF1_ENST00000405885.2_Intron|IRF1_ENST00000463784.1_5'Flank	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1						apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell cycle arrest (GO:0007050)|cellular response to interferon-beta (GO:0035458)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000564)|regulation of cell cycle (GO:0051726)|regulation of innate immune response (GO:0045088)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		AGCAGGCAGGCCAGGCCCCAG	0.557																																						uc010jds.1		NaN																	0					0						c.(82-84)GCC>GAC		Homo sapiens full length insert cDNA clone ZA99C08.							84.0	99.0	94.0					5																	131821922		2203	4300	6503	SO:0001627	intron_variant	441108							g.chr5:131821922C>A		CCDS4155.1	5q23-q31	2008-07-18			ENSG00000125347	ENSG00000125347			6116	protein-coding gene	gene with protein product	"""interferon regulatory factor-1"""	147575				2726461, 1680796	Standard	NM_002198		Approved	MAR	uc003kxa.2	P10914	OTTHUMG00000059497	ENST00000245414.4:c.667+20G>T	5.37:g.131821922C>A						IRF1_uc003kxd.2_Intron|IRF1_uc003kxa.2_Intron|IRF1_uc003kxb.2_Intron|IRF1_uc010jdt.1_Intron	p.A28D			Q8N8D9	CE056_HUMAN			4	258	+			Error:Variant_position_missing_in_Q8N8D9_after_alignment					Q96GG7	Missense_Mutation	SNP	ENST00000245414.4	37	c.83C>A	CCDS4155.1																																																																																				0.557	IRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132340.1		NM_002198		14	70	1	0	2.32078e-09	0.003163	2.49619e-09	14	70		
PCDHA1	56147	broad.mit.edu	37	5	140167598	140167598	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr5:140167598G>A	ENST00000504120.2	+	1	1723	c.1723G>A	c.(1723-1725)Ggt>Agt	p.G575S	PCDHA1_ENST00000378133.3_Missense_Mutation_p.G575S|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	575					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCACTATTGGTGCAGTCAG	0.672																																						uc003lhb.2		NaN																	0				skin(1)	1						c.(1723-1725)GGT>AGT		protocadherin alpha 1 isoform 1 precursor							96.0	91.0	93.0					5																	140167598		2203	4299	6502	SO:0001583	missense	56147				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140167598G>A	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1723G>A	5.37:g.140167598G>A	ENSP00000420840:p.Gly575Ser					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Missense_Mutation_p.G575S	p.G575S	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1723	+			575			Extracellular (Potential).		O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.1723G>A	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	g	1.377	-0.584542	0.03827	.	.	ENSG00000204970	ENST00000504120;ENST00000378133	T;T	0.50277	0.82;0.75	3.68	-1.83	0.07833	Cadherin-like (1);	3.134790	0.02458	N	0.086284	T	0.15046	0.0363	N	0.01417	-0.88	0.09310	N	1	B;B	0.15930	0.004;0.015	B;B	0.13407	0.009;0.009	T	0.28870	-1.0030	10	0.02654	T	1	.	1.9146	0.03294	0.4389:0.1929:0.2523:0.1159	.	575;575	Q9Y5I3;Q9Y5I3-3	PCDA1_HUMAN;.	S	575	ENSP00000420840:G575S;ENSP00000367373:G575S	ENSP00000367373:G575S	G	+	1	0	PCDHA1	140147782	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.405000	0.07196	-0.404000	0.07610	-0.350000	0.07774	GGT		0.672	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1		NM_018900		91	44	0	0	0	0.01441	0	91	44		
PCDHA6	56142	broad.mit.edu	37	5	140209725	140209725	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr5:140209725G>A	ENST00000529310.1	+	1	2163	c.2049G>A	c.(2047-2049)tcG>tcA	p.S683S	PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	683					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGGGCGTCGGTGGGCGCCG	0.667																																						uc003lho.2		NaN																	0				haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						c.(2047-2049)TCG>TCA		protocadherin alpha 6 isoform 1 precursor							39.0	45.0	43.0					5																	140209725		2196	4286	6482	SO:0001819	synonymous_variant	56142				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140209725G>A	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.2049G>A	5.37:g.140209725G>A						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_uc011dab.1_Silent_p.S683S	p.S683S	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2076	+			683			Extracellular (Potential).		O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	c.2049G>A	CCDS47281.1																																																																																				0.667	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3		NM_018909		80	30	0	0	0	0.01441	0	80	30		
PCDHGA6	56109	broad.mit.edu	37	5	140755960	140755960	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr5:140755960C>A	ENST00000517434.1	+	1	2310	c.2310C>A	c.(2308-2310)ttC>ttA	p.F770L	PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	770					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCTGATTTTCCCCCAGCCCA	0.517																																						uc003ljy.1		NaN																	0				breast(1)	1						c.(2308-2310)TTC>TTA		protocadherin gamma subfamily A, 6 isoform 1							92.0	98.0	96.0					5																	140755960		2203	4300	6503	SO:0001583	missense	56109				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140755960C>A	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.2310C>A	5.37:g.140755960C>A	ENSP00000429601:p.Phe770Leu					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Missense_Mutation_p.F770L	p.F770L	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2310	+			770			Cytoplasmic (Potential).		A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	ENST00000517434.1	37	c.2310C>A	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	10.80	1.453066	0.26161	.	.	ENSG00000253731	ENST00000517434	T	0.49720	0.77	5.0	1.23	0.21249	.	0.000000	0.31976	U	0.006772	T	0.51261	0.1664	M	0.80982	2.52	0.22096	N	0.999364	B;B	0.29341	0.242;0.2	B;B	0.36335	0.222;0.216	T	0.53968	-0.8363	10	0.72032	D	0.01	.	10.3711	0.44055	0.0:0.6488:0.0:0.3512	.	770;770	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	L	770	ENSP00000429601:F770L	ENSP00000429601:F770L	F	+	3	2	PCDHGA6	140736144	0.001000	0.12720	0.998000	0.56505	0.203000	0.24098	-0.494000	0.06451	0.375000	0.24679	-0.137000	0.14449	TTC		0.517	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1		NM_018919		80	30	1	0	3.89792e-41	0.01441	5.3416e-41	80	30		
FAT2	2196	broad.mit.edu	37	5	150925116	150925116	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr5:150925116C>G	ENST00000261800.5	-	9	5584	c.5572G>C	c.(5572-5574)Gtc>Ctc	p.V1858L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1858	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGAATGATGACTTGGGCAGGT	0.463																																						uc003lue.3		NaN																	0				ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(5572-5574)GTC>CTC		FAT tumor suppressor 2 precursor							83.0	91.0	88.0					5																	150925116		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150925116C>G	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.5572G>C	5.37:g.150925116C>G	ENSP00000261800:p.Val1858Leu					GM2A_uc011dcs.1_Intron	p.V1858L	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	5585	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1858			Extracellular (Potential).|Cadherin 16.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.5572G>C	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.480234	0.63849	.	.	ENSG00000086570	ENST00000261800	T	0.61040	0.14	5.01	4.15	0.48705	Cadherin (4);Cadherin-like (1);	0.000000	0.49305	D	0.000157	T	0.77039	0.4072	M	0.85630	2.765	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.79538	-0.1762	10	0.51188	T	0.08	.	13.3279	0.60469	0.0:0.9232:0.0:0.0768	.	1858	Q9NYQ8	FAT2_HUMAN	L	1858	ENSP00000261800:V1858L	ENSP00000261800:V1858L	V	-	1	0	FAT2	150905309	1.000000	0.71417	0.624000	0.29186	0.834000	0.47266	6.026000	0.70873	1.116000	0.41820	0.467000	0.42956	GTC		0.463	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1		NM_001447		17	66	0	0	0	0.00499	0	17	66		
FAT2	2196	broad.mit.edu	37	5	150945387	150945387	+	Missense_Mutation	SNP	C	C	A	rs540301394		TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr5:150945387C>A	ENST00000261800.5	-	1	3118	c.3106G>T	c.(3106-3108)Gtg>Ttg	p.V1036L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1036	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCTGGTGCACGAAGGAGGCA	0.602																																						uc003lue.3		NaN																	0				ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(3106-3108)GTG>TTG		FAT tumor suppressor 2 precursor							80.0	68.0	72.0					5																	150945387		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150945387C>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.3106G>T	5.37:g.150945387C>A	ENSP00000261800:p.Val1036Leu					GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Missense_Mutation_p.V1036L	p.V1036L	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	3119	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1036			Cadherin 9.|Extracellular (Potential).		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.3106G>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.821672	0.71028	.	.	ENSG00000086570	ENST00000261800	T	0.61158	0.13	5.16	5.16	0.70880	Cadherin (2);Cadherin-like (1);	0.000000	0.53938	D	0.000044	T	0.54967	0.1891	L	0.31526	0.94	0.58432	D	0.999995	D	0.53745	0.962	P	0.51945	0.685	T	0.49103	-0.8974	10	0.26408	T	0.33	.	14.2744	0.66170	0.0:0.9261:0.0:0.0739	.	1036	Q9NYQ8	FAT2_HUMAN	L	1036	ENSP00000261800:V1036L	ENSP00000261800:V1036L	V	-	1	0	FAT2	150925580	1.000000	0.71417	0.935000	0.37517	0.988000	0.76386	4.893000	0.63199	2.559000	0.86315	0.655000	0.94253	GTG		0.602	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1		NM_001447		9	44	1	0	2.17888e-05	0.006214	2.23526e-05	9	44		
KIF4B	285643	broad.mit.edu	37	5	154393911	154393911	+	Silent	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr5:154393911G>T	ENST00000435029.4	+	1	652	c.492G>T	c.(490-492)cgG>cgT	p.R164R		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	164	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TAAATATACGGGAGGATCCTA	0.388																																						uc010jih.1		NaN																	0				ovary(1)	1						c.(490-492)CGG>CGT		kinesin family member 4B							186.0	187.0	187.0					5																	154393911		2203	4300	6503	SO:0001819	synonymous_variant	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154393911G>T	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.492G>T	5.37:g.154393911G>T							p.R164R	NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	652	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	164			Kinesin-motor.			Silent	SNP	ENST00000435029.4	37	c.492G>T	CCDS47324.1																																																																																				0.388	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1				19	124	1	0	2.89027e-11	0.014323	3.20179e-11	19	124		
DOCK2	1794	broad.mit.edu	37	5	169101351	169101351	+	Silent	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr5:169101351G>C	ENST00000256935.8	+	6	452	c.372G>C	c.(370-372)ctG>ctC	p.L124L		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	124					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGTACGATCTGATGGAGTGGA	0.478																																						uc003maf.2		NaN																	0				ovary(5)|pancreas(2)	7						c.(370-372)CTG>CTC		dedicator of cytokinesis 2							158.0	145.0	150.0					5																	169101351		2203	4300	6503	SO:0001819	synonymous_variant	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169101351G>C	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.372G>C	5.37:g.169101351G>C						DOCK2_uc011der.1_RNA	p.L124L	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		6	452	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	124					Q2M3I0|Q96AK7	Silent	SNP	ENST00000256935.8	37	c.372G>C	CCDS4371.1																																																																																				0.478	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2		NM_004946		50	23	0	0	0	0.01441	0	50	23		
SLC34A1	6569	broad.mit.edu	37	5	176815166	176815166	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr5:176815166G>T	ENST00000324417.5	+	7	907	c.816G>T	c.(814-816)gaG>gaT	p.E272D	SLC34A1_ENST00000512593.1_Missense_Mutation_p.E272D	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	272					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCATCACAGAGCCCTTCACGA	0.597																																						uc003mgk.3		NaN																	0				ovary(1)	1						c.(814-816)GAG>GAT		solute carrier family 34 (sodium phosphate),							71.0	63.0	66.0					5																	176815166		2203	4300	6503	SO:0001583	missense	6569				phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity	g.chr5:176815166G>T	L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"""Solute carriers"""	11019	protein-coding gene	gene with protein product	"""sodium/phosphate co-transporter"", ""solute carrier family 17 (sodium phosphate), member 2"", ""Na+-phosphate cotransporter type II"""	182309	"""solute carrier family 34 (sodium phosphate), member 1"""	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.816G>T	5.37:g.176815166G>T	ENSP00000321424:p.Glu272Asp						p.E272D	NM_003052	NP_003043	Q06495	NPT2A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		7	917	+	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	272			Extracellular (Potential).		B4DPE3	Missense_Mutation	SNP	ENST00000324417.5	37	c.816G>T	CCDS4418.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.560827	0.27827	.	.	ENSG00000131183	ENST00000512593;ENST00000324417	T;T	0.46819	0.86;1.54	5.05	3.24	0.37175	.	0.059782	0.64402	D	0.000003	T	0.32224	0.0822	L	0.33189	0.99	0.39563	D	0.969152	B	0.09022	0.002	B	0.14578	0.011	T	0.11060	-1.0603	10	0.08599	T	0.76	-4.4515	11.5579	0.50759	0.1492:0.0:0.8508:0.0	.	272	Q06495	NPT2A_HUMAN	D	272	ENSP00000423022:E272D;ENSP00000321424:E272D	ENSP00000321424:E272D	E	+	3	2	SLC34A1	176747772	0.996000	0.38824	1.000000	0.80357	0.954000	0.61252	0.292000	0.19011	1.140000	0.42260	0.561000	0.74099	GAG		0.597	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253431.1		NM_003052		41	13	1	0	7.63091e-17	0.007835	9.01097e-17	41	13		
GRM6	2916	broad.mit.edu	37	5	178410002	178410002	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr5:178410002G>A	ENST00000517717.1	-	10	2383	c.2345C>T	c.(2344-2346)gCc>gTc	p.A782V	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Missense_Mutation_p.A782V			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	782					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GATGGGCTTGGCCTCGTTGAA	0.587																																						uc003mjr.2		NaN																	0				lung(4)|ovary(2)|breast(1)|pancreas(1)	8						c.(2344-2346)GCC>GTC		glutamate receptor, metabotropic 6 precursor							127.0	106.0	113.0					5																	178410002		2203	4300	6503	SO:0001583	missense	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178410002G>A	U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.2345C>T	5.37:g.178410002G>A	ENSP00000430767:p.Ala782Val					GRM6_uc003mjq.2_Missense_Mutation_p.A185V	p.A782V	NM_000843	NP_000834	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	9	2524	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	782			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000517717.1	37	c.2345C>T	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.713050	0.89112	.	.	ENSG00000113262	ENST00000231188;ENST00000517717	D;D	0.92699	-3.09;-3.09	4.94	4.94	0.65067	GPCR, family 3, conserved site (1);GPCR, family 3, C-terminal (2);	.	.	.	.	D	0.96756	0.8941	M	0.91196	3.185	0.58432	D	0.999996	D;D	0.89917	0.999;1.0	D;D	0.79108	0.992;0.992	D	0.97567	1.0102	9	0.87932	D	0	.	16.0278	0.80555	0.0:0.0:1.0:0.0	.	782;76	O15303;Q5HYM4	GRM6_HUMAN;.	V	782	ENSP00000231188:A782V;ENSP00000430767:A782V	ENSP00000231188:A782V	A	-	2	0	GRM6	178342608	1.000000	0.71417	1.000000	0.80357	0.614000	0.37383	9.661000	0.98601	2.475000	0.83589	0.313000	0.20887	GCC		0.587	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2				78	26	0	0	0	0.01441	0	78	26		
HUS1B	135458	broad.mit.edu	37	6	656803	656803	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr6:656803C>G	ENST00000380907.2	-	1	160	c.142G>C	c.(142-144)Ggc>Cgc	p.G48R	EXOC2_ENST00000448181.3_Intron|EXOC2_ENST00000230449.4_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	48					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)	checkpoint clamp complex (GO:0030896)|nucleolus (GO:0005730)				endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		TCGTGGAGGCCGCCGGAACCC	0.667																																						uc003mtg.2		NaN																	0					0						c.(142-144)GGC>CGC		HUS1 checkpoint protein B							12.0	13.0	13.0					6																	656803		2189	4277	6466	SO:0001583	missense	135458							g.chr6:656803C>G	AF508547	CCDS4470.1	6p25.3	2008-08-08	2001-11-28		ENSG00000188996	ENSG00000188996			16485	protein-coding gene	gene with protein product		609713	"""HUS1 (S. pombe) checkpoint homolog b"""			11944979	Standard	NM_148959		Approved		uc003mtg.3	Q8NHY5	OTTHUMG00000090059	ENST00000380907.2:c.142G>C	6.37:g.656803C>G	ENSP00000370293:p.Gly48Arg					EXOC2_uc003mtd.2_Intron|EXOC2_uc003mte.2_Intron|EXOC2_uc011dho.1_Intron	p.G48R	NM_148959	NP_683762	Q8NHY5	HUS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)	1	162	-	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	48					Q5T4Z2	Missense_Mutation	SNP	ENST00000380907.2	37	c.142G>C	CCDS4470.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.466854	0.26335	.	.	ENSG00000188996	ENST00000380907	T	0.11063	2.81	2.26	-3.69	0.04450	.	0.384296	0.21876	U	0.067807	T	0.01387	0.0045	N	0.22421	0.69	0.09310	N	1	P	0.48162	0.906	B	0.38194	0.267	T	0.49960	-0.8883	10	0.20519	T	0.43	.	6.338	0.21306	0.0:0.3156:0.5497:0.1347	.	48	Q8NHY5	HUS1B_HUMAN	R	48	ENSP00000370293:G48R	ENSP00000370293:G48R	G	-	1	0	HUS1B	601803	0.005000	0.15991	0.000000	0.03702	0.000000	0.00434	0.209000	0.17435	-0.847000	0.04168	-0.479000	0.04858	GGC		0.667	HUS1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205617.2		NM_148959		14	7	0	0	0	0.020292	0	14	7		
TUBB2A	7280	broad.mit.edu	37	6	3154784	3154784	+	Silent	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr6:3154784C>G	ENST00000333628.3	-	4	713	c.651G>C	c.(649-651)ctG>ctC	p.L217L	RP1-40E16.11_ENST00000447644.1_RNA|TUBB2A_ENST00000489942.1_5'Flank	NM_001069.2	NP_001060.1	Q13885	TBB2A_HUMAN	tubulin, beta 2A class IIa	217					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				TGGGGGTGGTCAGCTTCAGGG	0.612																																						uc003mvc.2		NaN																	0				skin(1)	1						c.(649-651)CTG>CTC		tubulin, beta 2							86.0	63.0	71.0					6																	3154784		2203	4298	6501	SO:0001819	synonymous_variant	7280				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr6:3154784C>G	AY159127	CCDS4484.1	6p25.2	2012-10-02	2011-10-10	2005-11-03	ENSG00000137267	ENSG00000137267		"""Tubulins"""	12412	protein-coding gene	gene with protein product	"""class IIa beta-tubulin"""	615101	"""tubulin, beta polypeptide"", ""tubulin, beta 2"", ""tubulin, beta 2A"""	TUBB, TUBB2		14574404	Standard	NM_001069		Approved	dJ40E16.7	uc003mvc.3	Q13885	OTTHUMG00000014135	ENST00000333628.3:c.651G>C	6.37:g.3154784C>G						TUBB2A_uc003mvb.2_Silent_p.L210L|TUBB2A_uc003mvd.2_Silent_p.L180L	p.L217L	NM_001069	NP_001060	Q13885	TBB2A_HUMAN			4	737	-	Ovarian(93;0.0386)	all_hematologic(90;0.0895)	217					Q6FGZ8|Q8IWR2	Silent	SNP	ENST00000333628.3	37	c.651G>C	CCDS4484.1																																																																																				0.612	TUBB2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039662.1		NM_001069		49	71	0	0	0	0.01441	0	49	71		
RANBP9	10048	broad.mit.edu	37	6	13644837	13644837	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr6:13644837G>A	ENST00000011619.3	-	6	1110	c.1052C>T	c.(1051-1053)gCa>gTa	p.A351V	RANBP9_ENST00000539980.1_Missense_Mutation_p.A122V	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	351					axon guidance (GO:0007411)|microtubule nucleation (GO:0007020)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			ATCTATCTGTGCCTGGATTTT	0.413																																						uc003nbb.2		NaN																	0				lung(1)|skin(1)	2						c.(1051-1053)GCA>GTA		RAN binding protein 9							156.0	146.0	150.0					6																	13644837		2203	4300	6503	SO:0001583	missense	10048				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding	g.chr6:13644837G>A	AB008515	CCDS4529.1	6p23	2010-05-25			ENSG00000010017	ENSG00000010017			13727	protein-coding gene	gene with protein product	"""Ran Binding Protein in the Microtubule organizing center"""	603854				9817760	Standard	NM_005493		Approved	RanBPM	uc003nbb.3	Q96S59	OTTHUMG00000015642	ENST00000011619.3:c.1052C>T	6.37:g.13644837G>A	ENSP00000011619:p.Ala351Val					RANBP9_uc003nba.2_Missense_Mutation_p.A10V	p.A351V	NM_005493	NP_005484	Q96S59	RANB9_HUMAN	Epithelial(50;0.223)		6	1111	-	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	351					A0PJA2|B2R8E1|O94764|Q6P3T7|Q7LBR2|Q7Z7F9	Missense_Mutation	SNP	ENST00000011619.3	37	c.1052C>T	CCDS4529.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.678707	0.68042	.	.	ENSG00000010017	ENST00000011619;ENST00000539980	T	0.78481	-1.18	5.17	5.17	0.71159	.	0.049123	0.85682	D	0.000000	T	0.67287	0.2877	N	0.17474	0.49	0.58432	D	0.999999	D	0.58268	0.982	P	0.53760	0.734	T	0.67023	-0.5775	10	0.27082	T	0.32	-16.3584	19.037	0.92983	0.0:0.0:1.0:0.0	.	351	Q96S59	RANB9_HUMAN	V	351;122	ENSP00000011619:A351V	ENSP00000011619:A351V	A	-	2	0	RANBP9	13752816	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	9.813000	0.99286	2.557000	0.86248	0.557000	0.71058	GCA		0.413	RANBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042373.1				73	90	0	0	0	0.01441	0	73	90		
C6orf62	81688	broad.mit.edu	37	6	24716501	24716501	+	Missense_Mutation	SNP	T	T	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr6:24716501T>G	ENST00000378119.4	-	2	2348	c.181A>C	c.(181-183)Aat>Cat	p.N61H	C6orf62_ENST00000540769.1_Missense_Mutation_p.N3H|C6orf62_ENST00000378102.3_Missense_Mutation_p.N32H	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN	chromosome 6 open reading frame 62	61						intracellular (GO:0005622)				endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						TCATAATTATTTGTCATGACT	0.398																																						uc003nel.2		NaN																	0					0						c.(181-183)AAT>CAT		hypothetical protein LOC81688							65.0	69.0	68.0					6																	24716501		2203	4300	6503	SO:0001583	missense	81688					intracellular		g.chr6:24716501T>G	AL136632	CCDS4559.1	6p22.1	2011-12-13			ENSG00000112308	ENSG00000112308			20998	protein-coding gene	gene with protein product	"""HBV X-transactivated protein 12"""					11230166	Standard	NM_030939		Approved	FLJ12619, DKFZP564G182, XTP12	uc003nel.3	Q9GZU0	OTTHUMG00000014361	ENST00000378119.4:c.181A>C	6.37:g.24716501T>G	ENSP00000367359:p.Asn61His						p.N61H	NM_030939	NP_112201	Q9GZU0	CF062_HUMAN			2	688	-			61					Q3LIB6|Q5JVZ2|Q5JVZ3|Q6IA63|Q9H1Z2	Missense_Mutation	SNP	ENST00000378119.4	37	c.181A>C	CCDS4559.1	.	.	.	.	.	.	.	.	.	.	T	31	5.079121	0.94050	.	.	ENSG00000112308	ENST00000378119;ENST00000540769;ENST00000378102	T;T;T	0.38722	1.12;1.12;1.12	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.42921	0.1224	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.51795	-0.8660	10	0.87932	D	0	-10.473	16.192	0.81996	0.0:0.0:0.0:1.0	.	61	Q9GZU0	CF062_HUMAN	H	61;3;32	ENSP00000367359:N61H;ENSP00000446225:N3H;ENSP00000367342:N32H	ENSP00000367342:N32H	N	-	1	0	C6orf62	24824480	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.621000	0.83083	2.229000	0.72834	0.482000	0.46254	AAT		0.398	C6orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040017.1		NM_030939		34	34	0	0	0	0.013726	0	34	34		
PPP1R10	5514	broad.mit.edu	37	6	30571979	30571979	+	Silent	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr6:30571979C>A	ENST00000376511.2	-	14	1866	c.1314G>T	c.(1312-1314)ctG>ctT	p.L438L		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	438	Essential for PPP1CA inhibition. {ECO:0000250}.|Interaction with WDR82. {ECO:0000250}.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GTCGGTCTGACAGTATCTCTC	0.542																																						uc003nqn.1		NaN																	0				ovary(2)|lung(1)|kidney(1)	4						c.(1312-1314)CTG>CTT		protein phosphatase 1, regulatory subunit 10							89.0	91.0	90.0					6																	30571979		2203	4300	6503	SO:0001819	synonymous_variant	5514				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	g.chr6:30571979C>A	Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.1314G>T	6.37:g.30571979C>A						PPP1R10_uc010jsc.1_Silent_p.L92L	p.L438L	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN			14	1866	-			438			Essential for PPP1CA inhibition (By similarity).|Interaction with WDR82 (By similarity).		O00405	Silent	SNP	ENST00000376511.2	37	c.1314G>T	CCDS4681.1																																																																																				0.542	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2		NM_002714		68	72	1	0	9.04393e-38	0.01441	1.23024e-37	68	72		
CYP21A1P	1590	broad.mit.edu	37	6	31978813	31978813	+	RNA	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr6:31978813C>T	ENST00000342991.6	+	0	1971					NR_040090.1				cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene																		CTCTGAGGCTCCCCTGAAAAC	0.637																																						uc011dpc.1		NaN																	0					0						c.(676-678)GAG>AAG		tenascin XB isoform 2							52.0	56.0	55.0					6																	31978813		682	1542	2224			7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:31978813C>T	M13935		6p21.33	2011-12-01	2003-01-14		ENSG00000204338	ENSG00000204338		"""Cytochrome P450s"""	2599	pseudogene	pseudogene			"""cytochrome P450, subfamily XXIA (steroid 21-hydroxylase), polypeptide 1 pseudogene"""	CYP21P, CYP21A		3487786, 3038528	Standard	NR_040090		Approved	P450c21A	uc021yve.1		OTTHUMG00000031026		6.37:g.31978813C>T						STK19_uc003nza.2_5'Flank|STK19_uc003nzb.2_5'Flank	p.E226K	NM_032470	NP_115859	P22105	TENX_HUMAN			4	1585	-			3842			Fibronectin type-III 30.			Missense_Mutation	SNP	ENST00000342991.6	37	c.676G>A																																																																																					0.637	CYP21A1P-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000268795.1				51	48	0	0	0	0.01441	0	51	48		
MDFI	4188	broad.mit.edu	37	6	41621214	41621214	+	Silent	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr6:41621214G>T	ENST00000373050.4	+	4	646	c.459G>T	c.(457-459)ctG>ctT	p.L153L				Q99750	MDFI_HUMAN	MyoD family inhibitor	214					activation of JUN kinase activity (GO:0007257)|cytoplasmic sequestering of transcription factor (GO:0042994)|dorsal/ventral axis specification (GO:0009950)|embryo development (GO:0009790)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			ACTGCGACCTGCCCTGCGACC	0.657																																						uc003oqp.3		NaN																	0					0						c.(640-642)CTG>CTT		MyoD family inhibitor							114.0	100.0	105.0					6																	41621214		2203	4300	6503	SO:0001819	synonymous_variant	4188				cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr6:41621214G>T	U78313	CCDS4857.1, CCDS75451.1	6p21	2008-08-29			ENSG00000112559	ENSG00000112559			6967	protein-coding gene	gene with protein product	"""inhibitor of MyoD family a"""	604971				9250874, 17289077	Standard	NM_005586		Approved	I-mfa	uc003oqq.4	Q99750	OTTHUMG00000014681	ENST00000373050.4:c.459G>T	6.37:g.41621214G>T						MDFI_uc003oqq.3_Silent_p.L214L|MDFI_uc010jxn.2_Silent_p.L214L	p.L214L	NM_005586	NP_005577	Q99750	MDFI_HUMAN	Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)		6	971	+	Ovarian(28;0.0327)|Colorectal(47;0.121)		214			Cys-rich.			Silent	SNP	ENST00000373050.4	37	c.642G>T																																																																																					0.657	MDFI-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000040519.2		NM_005586		97	112	1	0	3.46703e-50	0.01441	4.8714e-50	97	112		
PRPH2	5961	broad.mit.edu	37	6	42689673	42689673	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr6:42689673G>T	ENST00000230381.5	-	1	639	c.400C>A	c.(400-402)Ctc>Atc	p.L134I		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	134					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			CCGTTCTTGAGCCCTTGGCCC	0.542																																						uc003osk.2		NaN																	0				ovary(4)|central_nervous_system(1)	5						c.(400-402)CTC>ATC		peripherin 2							75.0	71.0	72.0					6																	42689673		2203	4300	6503	SO:0001583	missense	5961				cell adhesion|visual perception	integral to membrane		g.chr6:42689673G>T		CCDS4871.1	6p21.1	2013-09-20	2006-11-23	2006-11-23	ENSG00000112619	ENSG00000112619		"""Tetraspanins"""	9942	protein-coding gene	gene with protein product	retinal peripherin	179605	"""retinal degeneration, slow (retinitis pigmentosa 7)"", ""retinal degeneration, slow"""	RP7, RDS		1749427	Standard	NM_000322		Approved	TSPAN22, rd2, CACD2	uc003osk.3	P23942	OTTHUMG00000014701	ENST00000230381.5:c.400C>A	6.37:g.42689673G>T	ENSP00000230381:p.Leu134Ile						p.L134I	NM_000322	NP_000313	P23942	PRPH2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)		1	686	-	Colorectal(47;0.196)		134			Lumenal (Potential).		Q5TFH5|Q6DK65	Missense_Mutation	SNP	ENST00000230381.5	37	c.400C>A	CCDS4871.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451244	0.84209	.	.	ENSG00000112619	ENST00000230381	D	0.88509	-2.39	6.17	6.17	0.99709	Tetraspanin, EC2 domain (1);	0.062832	0.64402	D	0.000003	D	0.93249	0.7849	M	0.82823	2.61	0.54753	D	0.999983	D	0.76494	0.999	D	0.81914	0.995	D	0.91504	0.5221	10	0.33940	T	0.23	.	13.9957	0.64397	0.0685:0.0:0.9315:0.0	.	134	P23942	PRPH2_HUMAN	I	134	ENSP00000230381:L134I	ENSP00000230381:L134I	L	-	1	0	PRPH2	42797651	1.000000	0.71417	0.999000	0.59377	0.941000	0.58515	6.700000	0.74619	2.941000	0.99782	0.655000	0.94253	CTC		0.542	PRPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040556.1		NM_000322		33	43	1	0	1.30293e-26	0.015359	1.66236e-26	33	43		
COL19A1	1310	broad.mit.edu	37	6	70890380	70890380	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr6:70890380G>T	ENST00000322773.4	+	44	2842	c.2740G>T	c.(2740-2742)Ggt>Tgt	p.G914C	COL19A1_ENST00000393344.1_Missense_Mutation_p.G536C	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	914	Collagen-like 10.|Triple-helical region 5 (COL5).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TGGAGATATAGGTTTCCCTGG	0.398																																						uc003pfc.1		NaN																	0				ovary(2)|breast(2)	4						c.(2740-2742)GGT>TGT		alpha 1 type XIX collagen precursor							168.0	169.0	169.0					6																	70890380		2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70890380G>T		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.2740G>T	6.37:g.70890380G>T	ENSP00000316030:p.Gly914Cys						p.G914C	NM_001858	NP_001849	Q14993	COJA1_HUMAN			44	2857	+			914			Triple-helical region 5 (COL5).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.2740G>T	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.377709	0.61735	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.99186	-4.87;-5.53	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.99600	0.9855	H	0.96691	3.865	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	D	0.97927	1.0318	10	0.87932	D	0	.	17.591	0.87997	0.0:0.0:1.0:0.0	.	914	Q14993	COJA1_HUMAN	C	914;536	ENSP00000316030:G914C;ENSP00000377013:G536C	ENSP00000316030:G914C	G	+	1	0	COL19A1	70947101	1.000000	0.71417	0.967000	0.41034	0.997000	0.91878	7.728000	0.84847	2.590000	0.87494	0.484000	0.47621	GGT		0.398	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1				40	46	1	0	2.56662e-36	0.013114	3.47432e-36	40	46		
IMPG1	3617	broad.mit.edu	37	6	76751757	76751757	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr6:76751757A>G	ENST00000369950.3	-	2	343	c.154T>C	c.(154-156)Tac>Cac	p.Y52H	IMPG1_ENST00000369963.3_Intron	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GACATTTTGTACATTTTTTCA	0.358																																					Pancreas(37;839 1141 2599 26037)	uc003pik.1		NaN																	0				ovary(2)|skin(1)	3						c.(154-156)TAC>CAC		interphotoreceptor matrix proteoglycan 1							192.0	181.0	185.0					6																	76751757		2203	4300	6503	SO:0001583	missense	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76751757A>G	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.154T>C	6.37:g.76751757A>G	ENSP00000358966:p.Tyr52His						p.Y52H	NM_001563	NP_001554	Q17R60	IMPG1_HUMAN			2	284	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	52						Missense_Mutation	SNP	ENST00000369950.3	37	c.154T>C	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	A	0.536	-0.855646	0.02630	.	.	ENSG00000112706	ENST00000369950	T	0.19250	2.16	6.07	-0.448	0.12230	.	0.671559	0.14200	N	0.334725	T	0.02649	0.0080	N	0.16066	0.365	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.46133	-0.9213	9	.	.	.	.	5.4611	0.16617	0.5255:0.0:0.3485:0.1259	.	52	Q17R60	IMPG1_HUMAN	H	52	ENSP00000358966:Y52H	.	Y	-	1	0	IMPG1	76808477	0.174000	0.23070	0.000000	0.03702	0.112000	0.19704	0.599000	0.24089	-0.287000	0.09064	0.533000	0.62120	TAC		0.358	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1		NM_001563		59	55	0	0	0	0.01441	0	59	55		
SNX14	57231	broad.mit.edu	37	6	86227735	86227735	+	Silent	SNP	T	T	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr6:86227735T>C	ENST00000314673.3	-	22	2315	c.2139A>G	c.(2137-2139)ctA>ctG	p.L713L	SNX14_ENST00000369627.2_Silent_p.L704L|SNX14_ENST00000513865.1_Silent_p.L432L|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000505648.1_Silent_p.L661L|SNX14_ENST00000346348.3_Silent_p.L660L	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	713					protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		CCTCTTTCATTAGTTTTCCAG	0.254																																						uc003pkr.2		NaN																	0					0						c.(2137-2139)CTA>CTG		sorting nexin 14 isoform a							69.0	81.0	77.0					6																	86227735		2193	4285	6478	SO:0001819	synonymous_variant	57231				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity	g.chr6:86227735T>C	AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"""Sorting nexins"""	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.2139A>G	6.37:g.86227735T>C						SNX14_uc003pkp.2_Silent_p.L576L|SNX14_uc003pkq.2_Silent_p.L319L|SNX14_uc011dzg.1_Silent_p.L661L|SNX14_uc003pks.2_Silent_p.L660L|SNX14_uc003pkt.2_Silent_p.L704L	p.L713L	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0423)	22	2332	-		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)	713					B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Silent	SNP	ENST00000314673.3	37	c.2139A>G	CCDS5004.1																																																																																				0.254	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2		NM_153816		45	55	0	0	0	0.01441	0	45	55		
SRSF12	135295	broad.mit.edu	37	6	89808433	89808433	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr6:89808433G>A	ENST00000452027.2	-	5	843	c.650C>T	c.(649-651)tCt>tTt	p.S217F		NM_080743.4	NP_542781.3	Q8WXF0	SRS12_HUMAN	serine/arginine-rich splicing factor 12	217	Arg/Ser-rich (RS domain).				cytoplasmic transport (GO:0016482)|mRNA 5'-splice site recognition (GO:0000395)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|spliceosomal tri-snRNP complex assembly (GO:0000244)	nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RS domain binding (GO:0050733)|unfolded protein binding (GO:0051082)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)	8						TATTGAGTCAGAATGTCTTCC	0.398																																						uc003pmy.3		NaN																	0					0						c.(649-651)TCT>TTT		serine-arginine repressor protein							276.0	252.0	260.0					6																	89808433		1899	4127	6026	SO:0001583	missense	135295				assembly of spliceosomal tri-snRNP|cytoplasmic transport|negative regulation of nuclear mRNA splicing, via spliceosome|nuclear mRNA 5'-splice site recognition|regulation of alternative nuclear mRNA splicing, via spliceosome	nucleoplasm	nucleotide binding|RNA binding|RS domain binding|unfolded protein binding	g.chr6:89808433G>A	AF449428	CCDS47459.1	6q16.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000154548	ENSG00000154548		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	21220	protein-coding gene	gene with protein product	"""splicing factor, arginine/serine-rich 19"", ""SR splicing factor 12"""		"""splicing factor, arginine/serine-rich 13B"""	SFRS13B		11684676, 20516191	Standard	NM_080743		Approved	SRrp35, SFRS19	uc021zcq.1	Q8WXF0	OTTHUMG00000015192	ENST00000452027.2:c.650C>T	6.37:g.89808433G>A	ENSP00000414302:p.Ser217Phe						p.S217F	NM_080743	NP_542781	Q8WXF0	SRS12_HUMAN			5	844	-			217			Arg/Ser-rich (RS domain).		B2RA22|Q5T7K0|Q8WW25	Missense_Mutation	SNP	ENST00000452027.2	37	c.650C>T	CCDS47459.1	.	.	.	.	.	.	.	.	.	.	G	3.259	-0.151644	0.06585	.	.	ENSG00000154548	ENST00000452027	T	0.08807	3.05	5.22	3.25	0.37280	.	0.443453	0.21394	N	0.075256	T	0.01287	0.0042	N	0.12182	0.205	0.26956	N	0.965927	B	0.02656	0.0	B	0.04013	0.001	T	0.47586	-0.9106	10	0.12103	T	0.63	.	9.7645	0.40552	0.0902:0.1545:0.7553:0.0	.	217	Q8WXF0	SRS12_HUMAN	F	217	ENSP00000414302:S217F	ENSP00000414302:S217F	S	-	2	0	SRSF12	89865152	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.574000	0.36482	1.395000	0.46643	0.591000	0.81541	TCT		0.398	SRSF12-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041474.2		NM_080743		76	80	0	0	0	0.01441	0	76	80		
GABRR1	2569	broad.mit.edu	37	6	89910940	89910940	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr6:89910940G>T	ENST00000454853.2	-	3	328	c.218C>A	c.(217-219)aCa>aAa	p.T73K	GABRR1_ENST00000435811.1_Missense_Mutation_p.T56K|GABRR1_ENST00000369451.3_5'UTR	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	73					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	TTCTGACTTTGTCAGAGGCGA	0.473																																						uc003pna.2		NaN																	0				pancreas(1)	1						c.(217-219)ACA>AAA		gamma-aminobutyric acid (GABA) receptor, rho 1	Picrotoxin(DB00466)						252.0	214.0	227.0					6																	89910940		2203	4300	6503	SO:0001583	missense	2569				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr6:89910940G>T		CCDS5019.2, CCDS59028.1, CCDS59029.1	6q15	2012-06-22	2012-02-03		ENSG00000146276	ENSG00000146276		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4090	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 1"""	137161	"""gamma-aminobutyric acid (GABA) receptor, rho 1"""			1849271, 1315307	Standard	NM_002042		Approved		uc003pna.2	P24046	OTTHUMG00000015195	ENST00000454853.2:c.218C>A	6.37:g.89910940G>T	ENSP00000412673:p.Thr73Lys					GABRR1_uc011dzv.1_Missense_Mutation_p.T50K	p.T73K	NM_002042	NP_002033	P24046	GBRR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00917)	3	673	-		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)	73			Extracellular (Probable).		A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	Missense_Mutation	SNP	ENST00000454853.2	37	c.218C>A	CCDS5019.2	.	.	.	.	.	.	.	.	.	.	G	8.138	0.784666	0.16189	.	.	ENSG00000146276	ENST00000454853;ENST00000435811	T;T	0.80909	-1.43;-1.41	5.77	4.91	0.64330	Neurotransmitter-gated ion-channel ligand-binding (1);	0.089338	0.85682	D	0.000000	T	0.59238	0.2179	L	0.29908	0.895	0.58432	D	0.999999	B;B	0.28605	0.217;0.138	B;B	0.31946	0.138;0.065	T	0.59257	-0.7488	9	.	.	.	-10.5347	14.8509	0.70295	0.0687:0.0:0.9313:0.0	.	56;73	P24046-2;P24046	.;GBRR1_HUMAN	K	73;56	ENSP00000412673:T73K;ENSP00000394687:T56K	.	T	-	2	0	GABRR1	89967659	1.000000	0.71417	0.920000	0.36463	0.793000	0.44817	5.429000	0.66495	1.446000	0.47643	-0.258000	0.10820	ACA		0.473	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041479.2				73	105	1	0	2.25582e-47	0.01441	3.12214e-47	73	105		
BACH2	60468	broad.mit.edu	37	6	90661238	90661238	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr6:90661238G>T	ENST00000257749.4	-	7	1294	c.587C>A	c.(586-588)gCc>gAc	p.A196D	RP3-512E2.2_ENST00000445838.1_RNA|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000343122.3_Missense_Mutation_p.A196D|BACH2_ENST00000537989.1_Missense_Mutation_p.A196D	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	196						cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		TACGGGGATGGCGGCGGCCTC	0.602																																						uc011eab.1		NaN																	0				ovary(3)|pancreas(1)|lung(1)|skin(1)	6						c.(586-588)GCC>GAC		BTB and CNC homology 1, basic leucine zipper							94.0	90.0	91.0					6																	90661238		2203	4300	6503	SO:0001583	missense	60468					nucleus	protein dimerization activity|sequence-specific DNA binding	g.chr6:90661238G>T	AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.587C>A	6.37:g.90661238G>T	ENSP00000257749:p.Ala196Asp					BACH2_uc003pnw.2_Missense_Mutation_p.A196D|BACH2_uc010kch.2_Missense_Mutation_p.A196D	p.A196D	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0799)	7	1396	-		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)	196					E1P518|Q59H70|Q5T793|Q9NTS5	Missense_Mutation	SNP	ENST00000257749.4	37	c.587C>A	CCDS5026.1	.	.	.	.	.	.	.	.	.	.	G	8.787	0.929538	0.18131	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122	T;T;T	0.38240	1.15;1.15;1.15	5.45	5.45	0.79879	.	0.529160	0.21340	N	0.076158	T	0.13114	0.0318	N	0.24115	0.695	0.34200	D	0.673042	P	0.35433	0.501	B	0.29785	0.107	T	0.08617	-1.0713	10	0.37606	T	0.19	-20.7818	14.7724	0.69691	0.0:0.0:1.0:0.0	.	196	Q9BYV9	BACH2_HUMAN	D	196	ENSP00000257749:A196D;ENSP00000437473:A196D;ENSP00000345642:A196D	ENSP00000257749:A196D	A	-	2	0	BACH2	90717959	0.928000	0.31464	0.956000	0.39512	0.099000	0.18886	2.942000	0.49018	2.567000	0.86603	0.563000	0.77884	GCC		0.602	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2		NM_021813		53	57	1	0	1.86277e-20	0.01441	2.26719e-20	53	57		
GRIK2	2898	broad.mit.edu	37	6	102372594	102372594	+	Splice_Site	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr6:102372594G>A	ENST00000421544.1	+	12	2357	c.1867G>A	c.(1867-1869)Ggt>Agt	p.G623S	GRIK2_ENST00000369138.1_Splice_Site_p.G623S|GRIK2_ENST00000413795.1_Splice_Site_p.G623S|GRIK2_ENST00000369134.4_Splice_Site_p.G574S|GRIK2_ENST00000369137.3_Intron|GRIK2_ENST00000318991.6_Splice_Site_p.G623S	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	623					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)	CATGCAGCAAGGTATACGATT	0.498																																						uc003pqp.3		NaN																	0				ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(1867-1869)GGT>AGT		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						116.0	106.0	109.0					6																	102372594		2203	4300	6503	SO:0001630	splice_region_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.chr6:102372594G>A		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.1867+1G>A	6.37:g.102372594G>A						GRIK2_uc003pqo.3_Missense_Mutation_p.G623S|GRIK2_uc010kcw.2_Missense_Mutation_p.G623S	p.G623S	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)	12	2116	+		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)	623			Cytoplasmic (Potential).		A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	c.1867G>A	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	G	32	5.174614	0.94807	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000318991;ENST00000369134	D;D;D;D;D	0.99886	-7.52;-7.52;-7.52;-7.52;-7.52	5.86	5.86	0.93980	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	D	0.99880	0.9943	M	0.79123	2.44	0.80722	D	1	P;P;P	0.49185	0.901;0.92;0.901	P;P;P	0.61328	0.819;0.887;0.819	D	0.96446	0.9330	10	0.87932	D	0	.	20.1802	0.98196	0.0:0.0:1.0:0.0	.	623;623;623	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	S	623;623;623;623;574	ENSP00000397026:G623S;ENSP00000405596:G623S;ENSP00000358134:G623S;ENSP00000313276:G623S;ENSP00000358130:G574S	ENSP00000313276:G623S	G	+	1	0	GRIK2	102479287	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.777000	0.95525	0.655000	0.94253	GGT		0.498	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			Missense_Mutation	14	46	0	0	0	0.004007	0	14	46		
LAMA2	3908	broad.mit.edu	37	6	129636975	129636975	+	Silent	SNP	T	T	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr6:129636975T>C	ENST00000421865.2	+	26	3853	c.3804T>C	c.(3802-3804)tcT>tcC	p.S1268S		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1268	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CAGGTTTCTCTACATATAATC	0.438																																						uc003qbn.2		NaN																	0				ovary(8)|breast(1)|skin(1)	10						c.(3802-3804)TCT>TCC		laminin alpha 2 subunit isoform a precursor							109.0	109.0	109.0					6																	129636975		2203	4300	6503	SO:0001819	synonymous_variant	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129636975T>C	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.3804T>C	6.37:g.129636975T>C						LAMA2_uc003qbo.2_Silent_p.S1268S	p.S1268S	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	26	3909	+			1268			Laminin IV type A 2.		Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	c.3804T>C	CCDS5138.1																																																																																				0.438	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1				62	58	0	0	0	0.01441	0	62	58		
PEX3	8504	broad.mit.edu	37	6	143784110	143784110	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr6:143784110G>A	ENST00000367591.4	+	3	326	c.263G>A	c.(262-264)aGc>aAc	p.S88N		NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	88					peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of peroxisomal membrane (GO:0005779)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)|protein-lipid complex (GO:0032994)	lipid binding (GO:0008289)|protein dimerization activity (GO:0046983)			endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		AATTCCGAGAGCCTCACAGCT	0.358																																						uc003qjl.2		NaN																	0				ovary(1)	1						c.(262-264)AGC>AAC		peroxisomal biogenesis factor 3							90.0	88.0	89.0					6																	143784110		2203	4300	6503	SO:0001583	missense	8504				protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding	g.chr6:143784110G>A	AJ001625	CCDS5199.1	6q24.2	2008-05-15			ENSG00000034693	ENSG00000034693			8858	protein-coding gene	gene with protein product		603164				9657383	Standard	NM_003630		Approved		uc003qjl.3	P56589	OTTHUMG00000015730	ENST00000367591.4:c.263G>A	6.37:g.143784110G>A	ENSP00000356563:p.Ser88Asn					PEX3_uc011edx.1_Missense_Mutation_p.S88N	p.S88N	NM_003630	NP_003621	P56589	PEX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)	3	525	+			88			Peroxisomal (Potential).		Q6FGP5	Missense_Mutation	SNP	ENST00000367591.4	37	c.263G>A	CCDS5199.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.195964	0.38806	.	.	ENSG00000034693	ENST00000344281;ENST00000367592;ENST00000367591	T;T	0.47528	0.84;0.91	5.66	3.55	0.40652	.	0.037403	0.85682	D	0.000000	T	0.27349	0.0671	L	0.59436	1.845	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.002;0.003	T	0.14587	-1.0467	10	0.30078	T	0.28	-14.906	13.242	0.60002	0.1507:0.0:0.8492:0.0	.	88;88	B4DV31;P56589	.;PEX3_HUMAN	N	44;44;88	ENSP00000356564:S44N;ENSP00000356563:S88N	ENSP00000344195:S44N	S	+	2	0	PEX3	143825803	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.598000	0.82745	1.377000	0.46286	0.655000	0.94253	AGC		0.358	PEX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042525.1				38	33	0	0	0	0.00874	0	38	33		
PSMB1	5689	broad.mit.edu	37	6	170862291	170862291	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr6:170862291C>G	ENST00000262193.6	-	1	138	c.40G>C	c.(40-42)Gac>Cac	p.D14H	PSMB1_ENST00000462957.1_5'Flank|TBP_ENST00000392092.2_5'Flank|TBP_ENST00000230354.6_5'Flank|TBP_ENST00000540980.1_5'Flank	NM_002793.3	NP_002784.1	P20618	PSB1_HUMAN	proteasome (prosome, macropain) subunit, beta type, 1	14					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643)	Bortezomib(DB00188)|Carfilzomib(DB08889)	ATCCCCAAGTCTCTGCCAGGA	0.597																																						uc011ehe.1		NaN																	0				ovary(1)	1						c.(40-42)GAC>CAC		proteasome beta 1 subunit precursor	Bortezomib(DB00188)						43.0	39.0	40.0					6																	170862291		2203	4299	6502	SO:0001583	missense	5689				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cell junction|cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity	g.chr6:170862291C>G	D00761	CCDS34577.1	6q27	2008-02-05			ENSG00000008018	ENSG00000008018		"""Proteasome (prosome, macropain) subunits"""	9537	protein-coding gene	gene with protein product		602017				2025653	Standard	NM_002793		Approved	PMSB1, HC5	uc011ehe.2	P20618	OTTHUMG00000016087	ENST00000262193.6:c.40G>C	6.37:g.170862291C>G	ENSP00000262193:p.Asp14His					PSMB1_uc003qxq.2_RNA|PSMB1_uc003qxr.2_5'Flank|TBP_uc003qxt.2_5'Flank|TBP_uc003qxu.2_5'Flank|TBP_uc011ehf.1_5'Flank	p.D14H	NM_002793	NP_002784	P20618	PSB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643)	1	127	-		Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246)	14					B5BU76|Q9BWA8	Missense_Mutation	SNP	ENST00000262193.6	37	c.40G>C	CCDS34577.1	.	.	.	.	.	.	.	.	.	.	C	9.126	1.010156	0.19277	.	.	ENSG00000008018	ENST00000262193;ENST00000392093	T	0.23147	1.92	4.37	4.37	0.52481	.	0.647958	0.14789	N	0.298340	T	0.06735	0.0172	N	0.14661	0.345	0.09310	N	1	B	0.24368	0.102	B	0.22386	0.039	T	0.20638	-1.0269	10	0.56958	D	0.05	-4.4463	10.3839	0.44127	0.0:0.9081:0.0:0.0919	.	14	P20618	PSB1_HUMAN	H	14;19	ENSP00000262193:D14H	ENSP00000262193:D14H	D	-	1	0	PSMB1	170704216	0.000000	0.05858	0.356000	0.25785	0.236000	0.25371	0.507000	0.22675	2.252000	0.74401	0.563000	0.77884	GAC		0.597	PSMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043278.2		NM_002793		7	19	0	0	0	0.006214	0	7	19		
EIF3B	8662	broad.mit.edu	37	7	2404033	2404033	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr7:2404033G>A	ENST00000360876.4	+	6	1082	c.1026G>A	c.(1024-1026)tgG>tgA	p.W342*	EIF3B_ENST00000397011.2_Nonsense_Mutation_p.W342*	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B											breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		ATGTGCGTTGGTCTCCTAAGG	0.463																																						uc003slx.2		NaN																	0					0						c.(1024-1026)TGG>TGA		eukaryotic translation initiation factor 3,							137.0	139.0	139.0					7																	2404033		2203	4300	6503	SO:0001587	stop_gained	8662				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity	g.chr7:2404033G>A	U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"""RNA binding motif (RRM) containing"""	3280	protein-coding gene	gene with protein product		603917	"""eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"""	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.1026G>A	7.37:g.2404033G>A	ENSP00000354125:p.Trp342*					EIF3B_uc003sly.2_Nonsense_Mutation_p.W342*|EIF3B_uc003slz.1_Nonsense_Mutation_p.W303*|EIF3B_uc003sma.2_Nonsense_Mutation_p.W70*	p.W342*	NM_003751	NP_003742	P55884	EIF3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)	6	1109	+		Ovarian(82;0.0253)	342			Sufficient for interaction with EIF3E.|WD 1.			Nonsense_Mutation	SNP	ENST00000360876.4	37	c.1026G>A	CCDS5332.1	.	.	.	.	.	.	.	.	.	.	G	42	9.273414	0.99122	.	.	ENSG00000106263	ENST00000431643;ENST00000314800;ENST00000360876;ENST00000397011;ENST00000489558	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.197	20.3437	0.98782	0.0:0.0:1.0:0.0	.	.	.	.	X	70;342;342;342;266	.	ENSP00000316638:W342X	W	+	3	0	EIF3B	2370559	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.299000	0.96137	2.815000	0.96918	0.561000	0.74099	TGG		0.463	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207006.1				97	95	0	0	0	0.01441	0	97	95		
SDK1	221935	broad.mit.edu	37	7	4153858	4153858	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr7:4153858G>T	ENST00000404826.2	+	25	3914	c.3775G>T	c.(3775-3777)Ggg>Tgg	p.G1259W	SDK1_ENST00000389531.3_Missense_Mutation_p.G1259W	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1259	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CAACGCCGTCGGGGCTGGGCC	0.642																																						uc003smx.2		NaN																	0				large_intestine(3)|ovary(2)|skin(1)	6						c.(3775-3777)GGG>TGG		sidekick 1 precursor							29.0	28.0	28.0					7																	4153858		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4153858G>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.3775G>T	7.37:g.4153858G>T	ENSP00000385899:p.Gly1259Trp					SDK1_uc010kso.2_Missense_Mutation_p.G535W	p.G1259W	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	25	3914	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1259			Fibronectin type-III 6.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.3775G>T	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225806	0.58668	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.69306	-0.39;-0.39	5.38	5.38	0.77491	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	D	0.88265	0.6390	H	0.96365	3.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91861	0.5499	10	0.87932	D	0	.	19.1613	0.93533	0.0:0.0:1.0:0.0	.	1259;1259	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	W	1259	ENSP00000385899:G1259W;ENSP00000374182:G1259W	ENSP00000374182:G1259W	G	+	1	0	SDK1	4120384	1.000000	0.71417	0.303000	0.25071	0.021000	0.10359	9.343000	0.97047	2.507000	0.84556	0.655000	0.94253	GGG		0.642	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1		NM_152744		26	21	1	0	2.44723e-14	0.004656	2.81204e-14	26	21		
RBAK	57786	broad.mit.edu	37	7	5103373	5103373	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr7:5103373G>A	ENST00000353796.3	+	6	610	c.286G>A	c.(286-288)Gac>Aac	p.D96N	RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK_ENST00000396912.1_Missense_Mutation_p.D96N|RBAK-RBAKDN_ENST00000407184.1_Missense_Mutation_p.D96N	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	96					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		AGAAAACGAAGACAAACATTC	0.363																																						uc010kss.1		NaN																	0				ovary(3)|kidney(1)|skin(1)	5						c.(286-288)GAC>AAC		RB-associated KRAB repressor							70.0	66.0	68.0					7																	5103373		2203	4300	6503	SO:0001583	missense	57786				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr7:5103373G>A	AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"""Zinc fingers, C2H2-type"", ""-"""	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.286G>A	7.37:g.5103373G>A	ENSP00000275423:p.Asp96Asn					LOC389458_uc003snr.2_Missense_Mutation_p.D96N|RBAK_uc003sns.1_Missense_Mutation_p.D96N	p.D96N	NM_021163	NP_066986	Q9NYW8	RBAK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)	6	610	+		Ovarian(82;0.0175)	96					A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	Missense_Mutation	SNP	ENST00000353796.3	37	c.286G>A	CCDS5337.1	.	.	.	.	.	.	.	.	.	.	G	8.293	0.818176	0.16607	.	.	ENSG00000146587	ENST00000407184;ENST00000353796;ENST00000396912	T;T;T	0.07444	5.83;3.19;3.19	3.38	2.48	0.30137	.	0.590606	0.15196	N	0.275263	T	0.04407	0.0121	N	0.21324	0.655	0.23645	N	0.997217	B	0.27498	0.18	B	0.17098	0.017	T	0.28396	-1.0045	9	0.19590	T	0.45	.	4.1568	0.10265	0.1242:0.0:0.6472:0.2286	.	96	Q9NYW8	RBAK_HUMAN	N	96	ENSP00000385560:D96N;ENSP00000275423:D96N;ENSP00000380120:D96N	ENSP00000275423:D96N	D	+	1	0	RBAK	5069899	0.004000	0.15560	0.021000	0.16686	0.697000	0.40408	0.638000	0.24674	0.974000	0.38366	0.555000	0.69702	GAC		0.363	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241640.2		NM_021163		19	28	0	0	0	0.012319	0	19	28		
MIOS	54468	broad.mit.edu	37	7	7636000	7636000	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr7:7636000C>A	ENST00000340080.4	+	11	2730	c.2309C>A	c.(2308-2310)tCt>tAt	p.S770Y	MIOS_ENST00000405785.1_Missense_Mutation_p.S770Y	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	770						lysosomal membrane (GO:0005765)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCAACGAAATCTAAAGTCACA	0.468																																						uc003srf.2		NaN																	0					0						c.(2308-2310)TCT>TAT		missing oocyte, meiosis regulator, homolog							195.0	185.0	188.0					7																	7636000		1973	4155	6128	SO:0001583	missense	54468							g.chr7:7636000C>A		CCDS43554.1	7p21.3	2011-09-12			ENSG00000164654	ENSG00000164654			21905	protein-coding gene	gene with protein product	"""WD repeat-containing protein mio"""	615359				14973288	Standard	NM_019005		Approved	FLJ20323	uc003srf.3	Q9NXC5	OTTHUMG00000152440	ENST00000340080.4:c.2309C>A	7.37:g.7636000C>A	ENSP00000339881:p.Ser770Tyr					MIOS_uc003srg.2_Missense_Mutation_p.S305Y|MIOS_uc010ktq.2_Missense_Mutation_p.S165Y	p.S770Y	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN			11	2617	+			770					B2RTV6|O75216|Q7L551|Q9H092	Missense_Mutation	SNP	ENST00000340080.4	37	c.2309C>A	CCDS43554.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126553	0.77549	.	.	ENSG00000164654	ENST00000340080;ENST00000405785	T;T	0.53640	0.61;0.61	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.49762	0.1576	L	0.43152	1.355	0.80722	D	1	P;P	0.44877	0.845;0.845	P;P	0.44696	0.458;0.458	T	0.47911	-0.9080	10	0.51188	T	0.08	-18.9562	19.9829	0.97336	0.0:1.0:0.0:0.0	.	770;770	B4DGE7;Q9NXC5	.;MIO_HUMAN	Y	770	ENSP00000339881:S770Y;ENSP00000384088:S770Y	ENSP00000339881:S770Y	S	+	2	0	MIOS	7602525	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	7.461000	0.80834	2.809000	0.96659	0.467000	0.42956	TCT		0.468	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326218.1		NM_019005		16	134	1	0	1.52009e-12	0.003163	1.70779e-12	16	134		
AHR	196	broad.mit.edu	37	7	17379440	17379440	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr7:17379440G>T	ENST00000242057.4	+	10	2634	c.1991G>T	c.(1990-1992)tGt>tTt	p.C664F		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	664					apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	CCTTTCAATTGTCCACAGCAA	0.408																																						uc011jxz.1		NaN																	0				urinary_tract(1)|kidney(1)|pancreas(1)	3						c.(1990-1992)TGT>TTT		aryl hydrocarbon receptor precursor							144.0	127.0	132.0					7																	17379440		2203	4300	6503	SO:0001583	missense	196				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr7:17379440G>T	L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"""Basic helix-loop-helix proteins"""	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.1991G>T	7.37:g.17379440G>T	ENSP00000242057:p.Cys664Phe					AHR_uc003stt.3_RNA	p.C664F	NM_001621	NP_001612	P35869	AHR_HUMAN			10	2604	+	Lung NSC(10;0.0392)|all_lung(11;0.0754)		664					A4D130|Q13728|Q13803|Q13804	Missense_Mutation	SNP	ENST00000242057.4	37	c.1991G>T	CCDS5366.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.664698	0.29604	.	.	ENSG00000106546	ENST00000242057	T	0.49432	0.78	6.16	5.28	0.74379	.	0.139146	0.51477	D	0.000096	T	0.37705	0.1013	L	0.48642	1.525	0.34133	D	0.665438	B	0.17268	0.021	B	0.14023	0.01	T	0.46911	-0.9157	10	0.33141	T	0.24	.	7.0314	0.24969	0.0667:0.1248:0.6793:0.1292	.	664	P35869	AHR_HUMAN	F	664	ENSP00000242057:C664F	ENSP00000242057:C664F	C	+	2	0	AHR	17345965	0.788000	0.28762	0.940000	0.37924	0.192000	0.23643	1.945000	0.40273	1.598000	0.50083	0.650000	0.86243	TGT		0.408	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2		NM_001621		81	78	1	0	6.71967e-41	0.01441	9.18575e-41	81	78		
HNRNPA2B1	3181	broad.mit.edu	37	7	26236509	26236509	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr7:26236509T>C	ENST00000354667.4	-	5	597	c.429A>G	c.(427-429)atA>atG	p.I143M	HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.I131M	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	143	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|RNA binding (GO:0003723)|single-stranded telomeric DNA binding (GO:0043047)		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						TATCAGTAATTATCTCAATGG	0.368			T	ETV1	prostate																																	uc003sxr.3		NaN		Dom	yes		7	7p15	3181	T	heterogeneous nuclear ribonucleoprotein A2/B1			E	ETV1		prostate		0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(427-429)ATA>ATG		heterogeneous nuclear ribonucleoprotein A2/B1							165.0	168.0	167.0					7																	26236509		2203	4300	6503	SO:0001583	missense	3181				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|protein binding|RNA binding|single-stranded telomeric DNA binding	g.chr7:26236509T>C	D28877	CCDS5397.1, CCDS43557.1	7p15	2013-02-12		2007-08-16	ENSG00000122566	ENSG00000122566		"""RNA binding motif (RRM) containing"""	5033	protein-coding gene	gene with protein product		600124		HNRPA2B1		8029005	Standard	NM_002137		Approved		uc003sxr.4	P22626	OTTHUMG00000023471	ENST00000354667.4:c.429A>G	7.37:g.26236509T>C	ENSP00000346694:p.Ile143Met					HNRNPA2B1_uc003sxs.3_Missense_Mutation_p.I131M	p.I143M	NM_031243	NP_112533	P22626	ROA2_HUMAN			5	645	-			143			RRM 2.		A8K064|P22627|Q9UC98|Q9UDJ2	Missense_Mutation	SNP	ENST00000354667.4	37	c.429A>G	CCDS43557.1	.	.	.	.	.	.	.	.	.	.	T	14.14	2.447610	0.43429	.	.	ENSG00000122566	ENST00000354667;ENST00000356674;ENST00000409814	D;D	0.89746	-2.56;-2.56	5.84	1.99	0.26369	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	D	0.000001	D	0.91858	0.7423	M	0.67397	2.05	0.32141	N	0.58546	D;D	0.76494	0.999;0.997	D;D	0.81914	0.978;0.995	D	0.90205	0.4260	10	0.87932	D	0	.	7.7073	0.28657	0.2256:0.0:0.3505:0.4239	.	131;143	P22626-2;P22626	.;ROA2_HUMAN	M	143;131;131	ENSP00000346694:I143M;ENSP00000349101:I131M	ENSP00000346694:I143M	I	-	3	3	HNRNPA2B1	26203034	0.481000	0.25941	1.000000	0.80357	0.324000	0.28378	-0.338000	0.07842	0.084000	0.17077	0.528000	0.53228	ATA		0.368	HNRNPA2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214109.1		NM_002137		108	94	0	0	0	0.01441	0	108	94		
HECW1	23072	broad.mit.edu	37	7	43503285	43503285	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr7:43503285C>G	ENST00000395891.2	+	14	3283	c.2678C>G	c.(2677-2679)gCa>gGa	p.A893G	HECW1_ENST00000453890.1_Missense_Mutation_p.A859G	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	893					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CGAACCATTGCAACAGAGAGG	0.498																																						uc003tid.1		NaN																	0				ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(2677-2679)GCA>GGA		NEDD4-like ubiquitin-protein ligase 1							70.0	76.0	74.0					7																	43503285		1906	4118	6024	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43503285C>G	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.2678C>G	7.37:g.43503285C>G	ENSP00000379228:p.Ala893Gly					HECW1_uc011kbi.1_Missense_Mutation_p.A859G	p.A893G	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			14	3283	+			893			Potential.		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.2678C>G	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	C	24.0	4.481987	0.84747	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	D;D	0.84370	-1.84;-1.84	5.2	5.2	0.72013	.	1.544190	0.04750	U	0.424437	D	0.91751	0.7391	L	0.47716	1.5	0.80722	D	1	D;D	0.76494	0.999;0.972	D;P	0.78314	0.991;0.827	T	0.82384	-0.0484	10	0.38643	T	0.18	.	18.7486	0.91804	0.0:1.0:0.0:0.0	.	859;893	B4DH42;Q76N89	.;HECW1_HUMAN	G	893;859;893	ENSP00000379228:A893G;ENSP00000407774:A859G	ENSP00000265522:A893G	A	+	2	0	HECW1	43469810	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.637000	0.74304	2.439000	0.82584	0.591000	0.81541	GCA		0.498	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2		NM_015052		51	73	0	0	0	0.01441	0	51	73		
WBSCR22	114049	broad.mit.edu	37	7	73101013	73101013	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr7:73101013A>G	ENST00000265758.2	+	3	192	c.134A>G	c.(133-135)gAg>gGg	p.E45G	WBSCR22_ENST00000423497.1_Missense_Mutation_p.E45G|WBSCR22_ENST00000423166.2_Missense_Mutation_p.E68G|WBSCR22_ENST00000464615.1_3'UTR	NM_017528.4	NP_059998.2	O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22	45					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1)	13		Lung NSC(55;0.0908)|all_lung(88;0.198)				CGAGCATTGGAGCTTCTTTAT	0.483																																						uc003tyt.2		NaN																	0					0						c.(133-135)GAG>GGG		Williams Beuren syndrome chromosome region 22							193.0	187.0	189.0					7																	73101013		2203	4300	6503	SO:0001583	missense	114049					nucleus	methyltransferase activity	g.chr7:73101013A>G	AF420248	CCDS5557.1, CCDS56490.1	7q11.23	2012-06-12			ENSG00000071462	ENSG00000071462			16405	protein-coding gene	gene with protein product	"""metastasis-related methyltransferase 1"""	615733				12073013, 11978965, 21148752	Standard	NM_001202560		Approved	MGC19709, MGC2022, MGC5140, PP3381, WBMT, MERM1	uc003tyt.3	O43709	OTTHUMG00000023306	ENST00000265758.2:c.134A>G	7.37:g.73101013A>G	ENSP00000265758:p.Glu45Gly					WBSCR22_uc010lbi.1_RNA|WBSCR22_uc003tyu.2_Missense_Mutation_p.E45G|WBSCR22_uc003tyv.2_Missense_Mutation_p.E7G|WBSCR22_uc003tyw.1_5'UTR	p.E45G	NM_017528	NP_059998	O43709	WBS22_HUMAN			3	192	+		Lung NSC(55;0.0908)|all_lung(88;0.198)	45					A8K501|C9K060|Q96P12|Q9BQ58|Q9HBP9	Missense_Mutation	SNP	ENST00000265758.2	37	c.134A>G	CCDS5557.1	.	.	.	.	.	.	.	.	.	.	A	17.64	3.440512	0.63067	.	.	ENSG00000071462	ENST00000265758;ENST00000423166;ENST00000423497	T;T;T	0.70631	-0.5;-0.5;-0.5	4.93	3.78	0.43462	.	0.100911	0.64402	D	0.000003	D	0.84620	0.5512	M	0.90705	3.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85183	0.1005	10	0.87932	D	0	-15.2994	8.6883	0.34251	0.9093:0.0:0.0907:0.0	.	45;45	C9K060;O43709	.;WBS22_HUMAN	G	45;68;45	ENSP00000265758:E45G;ENSP00000397056:E68G;ENSP00000401191:E45G	ENSP00000265758:E45G	E	+	2	0	WBSCR22	72738949	1.000000	0.71417	1.000000	0.80357	0.377000	0.30045	6.900000	0.75687	0.916000	0.36871	0.460000	0.39030	GAG		0.483	WBSCR22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252303.1				86	113	0	0	0	0.01441	0	86	113		
SEMA3D	223117	broad.mit.edu	37	7	84628764	84628764	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr7:84628764C>T	ENST00000284136.6	-	17	2369	c.2326G>A	c.(2326-2328)Gcc>Acc	p.A776T	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	776					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						AACTACGTGGCTACAGCTCTA	0.393																																					Ovarian(63;442 1191 17318 29975 31528)	uc003uic.2		NaN																	0				ovary(3)|large_intestine(2)	5						c.(2326-2328)GCC>ACC		semaphorin 3D precursor							125.0	103.0	111.0					7																	84628764		2203	4300	6503	SO:0001583	missense	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84628764C>T	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.2326G>A	7.37:g.84628764C>T	ENSP00000284136:p.Ala776Thr					SEMA3D_uc010led.2_Missense_Mutation_p.A776T|SEMA3D_uc003uib.2_Missense_Mutation_p.A415T	p.A776T	NM_152754	NP_689967	O95025	SEM3D_HUMAN			17	2366	-			776					A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	c.2326G>A	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	C	7.845	0.722694	0.15439	.	.	ENSG00000153993	ENST00000284136	T	0.32515	1.45	5.79	2.95	0.34219	.	0.504521	0.22004	N	0.065977	T	0.12390	0.0301	N	0.03608	-0.345	0.19300	N	0.999976	B	0.02656	0.0	B	0.01281	0.0	T	0.24261	-1.0165	10	0.24483	T	0.36	.	8.5314	0.33337	0.5754:0.3501:0.0:0.0745	.	776	O95025	SEM3D_HUMAN	T	776	ENSP00000284136:A776T	ENSP00000284136:A776T	A	-	1	0	SEMA3D	84466700	0.071000	0.21146	0.877000	0.34402	0.299000	0.27559	0.421000	0.21280	0.749000	0.32854	0.655000	0.94253	GCC		0.393	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2		NM_152754		26	43	0	0	0	0.021523	0	26	43		
ABCB1	5243	broad.mit.edu	37	7	87179515	87179515	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr7:87179515T>C	ENST00000265724.3	-	13	1739	c.1322A>G	c.(1321-1323)cAg>cGg	p.Q441R	ABCB1_ENST00000543898.1_Missense_Mutation_p.Q377R	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	441	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	ATAGAGCCTCTGCATCAGCTG	0.552																																						uc003uiz.1		NaN																	0				ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(1321-1323)CAG>CGG		ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						116.0	82.0	93.0					7																	87179515		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87179515T>C	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.1322A>G	7.37:g.87179515T>C	ENSP00000265724:p.Gln441Arg					ABCB1_uc011khc.1_Missense_Mutation_p.Q377R	p.Q441R	NM_000927	NP_000918	P08183	MDR1_HUMAN			13	1740	-	Esophageal squamous(14;0.00164)		441			ABC transporter 1.|Cytoplasmic (Potential).		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.1322A>G	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.413053	0.83449	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.93659	-3.26;-3.26	6.16	6.16	0.99307	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.92041	0.7478	L	0.31476	0.935	0.80722	D	1	B;B	0.31949	0.038;0.348	B;B	0.42386	0.094;0.386	D	0.91563	0.5266	10	0.72032	D	0.01	-16.4417	16.8061	0.85666	0.0:0.0:0.0:1.0	.	377;441	B5AK60;P08183	.;MDR1_HUMAN	R	222;441;377	ENSP00000265724:Q441R;ENSP00000444095:Q377R	ENSP00000265724:Q441R	Q	-	2	0	ABCB1	87017451	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	8.015000	0.88690	2.367000	0.80283	0.528000	0.53228	CAG		0.552	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2		NM_000927		31	47	0	0	0	0.009535	0	31	47		
TRRAP	8295	broad.mit.edu	37	7	98487961	98487961	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr7:98487961G>A	ENST00000359863.4	+	4	363	c.154G>A	c.(154-156)Gtc>Atc	p.V52I	TRRAP_ENST00000446306.3_Missense_Mutation_p.V52I|TRRAP_ENST00000355540.3_Missense_Mutation_p.V52I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	52					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CAATTAGAATGTCACGTCATC	0.328																																						uc003upp.2		NaN																	0				ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(154-156)GTC>ATC		transformation/transcription domain-associated							117.0	110.0	112.0					7																	98487961		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98487961G>A	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.154G>A	7.37:g.98487961G>A	ENSP00000352925:p.Val52Ile					TRRAP_uc011kis.1_Missense_Mutation_p.V52I	p.V52I	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		4	363	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		52					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.154G>A	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	G	10.39	1.336845	0.24253	.	.	ENSG00000196367	ENST00000417523;ENST00000359863;ENST00000355540;ENST00000446306	T;T;T	0.28895	1.59;4.14;4.13	6.16	6.16	0.99307	Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.22003	0.0530	N	0.00677	-1.265	0.80722	D	1	P;P	0.47910	0.902;0.841	P;P	0.61722	0.893;0.785	T	0.34004	-0.9846	10	0.02654	T	1	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	52;52	Q9Y4A5-2;Q9Y4A5	.;TRRAP_HUMAN	I	52	ENSP00000401107:V52I;ENSP00000352925:V52I;ENSP00000347733:V52I	ENSP00000347733:V52I	V	+	1	0	TRRAP	98325897	1.000000	0.71417	0.995000	0.50966	0.466000	0.32739	9.765000	0.98953	2.937000	0.99478	0.650000	0.86243	GTC		0.328	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1		NM_003496		22	24	0	0	0	0.016522	0	22	24		
SH2B2	10603	broad.mit.edu	37	7	101944428	101944428	+	Silent	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr7:101944428G>C	ENST00000536178.1	+	2	768	c.723G>C	c.(721-723)ggG>ggC	p.G241G	SH2B2_ENST00000306803.8_Silent_p.G198G			O14492	SH2B2_HUMAN	SH2B adaptor protein 2	198	PH. {ECO:0000255|PROSITE- ProRule:PRU00145, ECO:0000305}.				actin cytoskeleton organization (GO:0030036)|antigen receptor-mediated signaling pathway (GO:0050851)|B-1 B cell homeostasis (GO:0001922)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cytokine-mediated signaling pathway (GO:0019221)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|regulation of JAK-STAT cascade (GO:0046425)|regulation of metabolic process (GO:0019222)|regulation of Ras protein signal transduction (GO:0046578)|signal transduction (GO:0007165)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stress fiber (GO:0001725)	JAK pathway signal transduction adaptor activity (GO:0008269)|SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9						AACGCGAGGGGGCGCTGCGCT	0.746																																						uc011kko.1		NaN																	0					0						c.(721-723)GGG>GGC		SH2B adaptor protein 2							4.0	6.0	5.0					7																	101944428		2048	4100	6148	SO:0001819	synonymous_variant	10603				blood coagulation|insulin receptor signaling pathway|intracellular signal transduction	cytosol|plasma membrane	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity	g.chr7:101944428G>C	AB000520		7q22.1	2013-02-14			ENSG00000160999	ENSG00000160999		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	17381	protein-coding gene	gene with protein product	"""adaptor protein with pleckstrin homology and src"""	605300				9233773	Standard	XM_005276976		Approved	APS	uc011kko.2	O14492	OTTHUMG00000150652	ENST00000536178.1:c.723G>C	7.37:g.101944428G>C							p.G241G	NM_020979	NP_066189	O14492	SH2B2_HUMAN			2	768	+			198			PH.		A6ND74	Silent	SNP	ENST00000536178.1	37	c.723G>C																																																																																					0.746	SH2B2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_020979		7	5	0	0	0	0.00308	0	7	5		
RINT1	60561	broad.mit.edu	37	7	105190500	105190500	+	Splice_Site	SNP	A	A	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr7:105190500A>G	ENST00000257700.2	+	8	1227		c.e8-1			NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1						G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CTCCTTCCTTAGCCAGAATGG	0.328																																						uc003vda.1		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.e8-2		RAD50 interactor 1							82.0	79.0	80.0					7																	105190500		2203	4300	6503	SO:0001630	splice_region_variant	60561				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding	g.chr7:105190500A>G	AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.997-1A>G	7.37:g.105190500A>G						RINT1_uc010ljj.1_Intron	p.P333_splice	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN			8	1228	+								Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Splice_Site	SNP	ENST00000257700.2	37	c.997_splice	CCDS34726.1	.	.	.	.	.	.	.	.	.	.	A	15.08	2.727686	0.48833	.	.	ENSG00000135249	ENST00000257700	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5663	0.61819	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RINT1	104977736	1.000000	0.71417	0.996000	0.52242	0.761000	0.43186	6.916000	0.75776	2.152000	0.67230	0.528000	0.53228	.		0.328	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1		NM_021930	Intron	23	30	0	0	0	0.016522	0	23	30		
CTTNBP2	83992	broad.mit.edu	37	7	117424464	117424464	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr7:117424464C>T	ENST00000160373.3	-	5	2204	c.2113G>A	c.(2113-2115)Gcc>Acc	p.A705T		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	705					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GCCAGGGGGGCAGGACCACCA	0.507																																						uc003vjf.2		NaN																	0				ovary(4)|central_nervous_system(1)	5						c.(2113-2115)GCC>ACC		cortactin binding protein 2							53.0	62.0	59.0					7																	117424464		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117424464C>T		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.2113G>A	7.37:g.117424464C>T	ENSP00000160373:p.Ala705Thr						p.A705T	NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	5	2205	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		705					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.2113G>A	CCDS5774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.651613|5.651613	0.96714|0.96714	.|.	.|.	ENSG00000077063|ENSG00000077063	ENST00000160373|ENST00000446636	T|.	0.68025|.	-0.3|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.218220|.	0.48767|.	D|.	0.000176|.	T|T	0.76528|0.76528	0.4000|0.4000	M|M	0.69823|0.69823	2.125|2.125	0.43719|0.43719	D|D	0.996195|0.996195	P|.	0.52316|.	0.952|.	P|.	0.46685|.	0.524|.	T|T	0.74287|0.74287	-0.3714|-0.3714	10|5	0.62326|.	D|.	0.03|.	-3.4485|-3.4485	19.9052|19.9052	0.97004|0.97004	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	705|.	Q8WZ74|.	CTTB2_HUMAN|.	T|Y	705|192	ENSP00000160373:A705T|.	ENSP00000160373:A705T|.	A|C	-|-	1|2	0|0	CTTNBP2|CTTNBP2	117211700|117211700	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	1.000000|1.000000	0.99986|0.99986	7.219000|7.219000	0.78000|0.78000	2.776000|2.776000	0.95493|0.95493	0.655000|0.655000	0.94253|0.94253	GCC|TGC		0.507	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4		NM_033427		79	66	0	0	0	0.01441	0	79	66		
SMO	6608	broad.mit.edu	37	7	128850354	128850354	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr7:128850354G>A	ENST00000249373.3	+	9	1897	c.1617G>A	c.(1615-1617)aaG>aaA	p.K539K	RP11-286H14.8_ENST00000466717.1_RNA	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	539	Interaction with BBS5 and BBS7.				adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	TCTGGACCAAGGCCACGCTGC	0.607			Mis		skin basal cell						OREG0018305	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003vor.2		NaN		Dom	yes		7	7q31-q32	6608	Mis	smoothened homolog (Drosophila)			E			skin basal cell 		0				skin(19)|large_intestine(10)|central_nervous_system(3)|upper_aerodigestive_tract(2)|biliary_tract(1)|lung(1)|liver(1)	37						c.(1615-1617)AAG>AAA		smoothened precursor							107.0	92.0	98.0					7																	128850354		2203	4300	6503	SO:0001819	synonymous_variant	6608				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr7:128850354G>A	U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"""GPCR / Class F : Frizzled receptors"""	11119	protein-coding gene	gene with protein product	"""frizzled family member 11"""	601500	"""smoothened (Drosophila) homolog"", ""smoothened homolog (Drosophila)"", ""smoothened, seven transmembrane spanning receptor"", ""smoothened, frizzled family receptor"""	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.1617G>A	7.37:g.128850354G>A			OREG0018305	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1568	SMO_uc003vos.2_Silent_p.K214K	p.K539K	NM_005631	NP_005622	Q99835	SMO_HUMAN			9	1897	+			539			Helical; Name=7; (Potential).		A4D1K5	Silent	SNP	ENST00000249373.3	37	c.1617G>A	CCDS5811.1																																																																																				0.607	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350986.1		NM_005631		47	71	0	0	0	0.01441	0	47	71		
SLC13A4	26266	broad.mit.edu	37	7	135376027	135376027	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr7:135376027C>G	ENST00000354042.4	-	13	2054	c.1365G>C	c.(1363-1365)tgG>tgC	p.W455C	C7orf73_ENST00000422968.1_Intron	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	455					sodium ion transmembrane transport (GO:0035725)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						GGAAGTCCTTCCACGTGATGA	0.498																																						uc003vta.2		NaN																	0					0						c.(1363-1365)TGG>TGC		solute carrier family 13 (sodium/sulfate							109.0	101.0	104.0					7																	135376027		2203	4300	6503	SO:0001583	missense	26266					integral to plasma membrane	sodium:sulfate symporter activity	g.chr7:135376027C>G	AF169301	CCDS5840.1	7q33	2013-07-18	2013-07-18		ENSG00000164707	ENSG00000164707		"""Solute carriers"""	15827	protein-coding gene	gene with protein product	"""sulphate transporter 1"""	604309	"""solute carrier family 13 (sodium/sulphate symporters), member 4"""			10535998	Standard	NM_012450		Approved	SUT-1, SUT1	uc003vta.3	Q9UKG4	OTTHUMG00000155539	ENST00000354042.4:c.1365G>C	7.37:g.135376027C>G	ENSP00000297282:p.Trp455Cys					SLC13A4_uc003vtb.2_Missense_Mutation_p.W456C|PL-5283_uc003vsz.3_Intron	p.W455C	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN			13	2054	-			455					A4D1Q4|Q8N631	Missense_Mutation	SNP	ENST00000354042.4	37	c.1365G>C	CCDS5840.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477358	0.84640	.	.	ENSG00000164707	ENST00000354042	T	0.07327	3.2	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.43100	0.1232	H	0.95679	3.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.58340	-0.7653	10	0.87932	D	0	-8.0733	17.2147	0.86940	0.0:1.0:0.0:0.0	.	324;455	Q59HF0;Q9UKG4	.;S13A4_HUMAN	C	455	ENSP00000297282:W455C	ENSP00000297282:W455C	W	-	3	0	SLC13A4	135026567	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.814000	0.86154	2.651000	0.90000	0.650000	0.86243	TGG		0.498	SLC13A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340558.1		NM_012450		34	46	0	0	0	0.013726	0	34	46		
MGAM	8972	broad.mit.edu	37	7	141747614	141747614	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr7:141747614C>A	ENST00000549489.2	+	22	2623	c.2528C>A	c.(2527-2529)gCc>gAc	p.A843D	MGAM_ENST00000475668.2_Missense_Mutation_p.A843D	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	843	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTTATCATTGCCCTAGATGAG	0.438																																						uc003vwy.2		NaN																	0				ovary(2)	2						c.(2527-2529)GCC>GAC		maltase-glucoamylase	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						77.0	70.0	72.0					7																	141747614		1913	4148	6061	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141747614C>A	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.2528C>A	7.37:g.141747614C>A	ENSP00000447378:p.Ala843Asp						p.A843D	NM_004668	NP_004659	O43451	MGA_HUMAN			22	2582	+	Melanoma(164;0.0272)		843			Lumenal (Potential).|Maltase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.2528C>A	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.817043	0.90790	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.92048	-2.96	5.37	5.37	0.77165	.	0.000000	0.49916	D	0.000129	D	0.97340	0.9130	H	0.95294	3.65	0.46185	D	0.998915	D	0.89917	1.0	D	0.75020	0.985	D	0.98433	1.0583	10	0.87932	D	0	.	17.8675	0.88800	0.0:1.0:0.0:0.0	.	843	O43451	MGA_HUMAN	D	843;843;720	ENSP00000447378:A843D	ENSP00000316431:A720D	A	+	2	0	MGAM	141394083	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	6.652000	0.74377	2.528000	0.85240	0.650000	0.86243	GCC		0.438	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3				10	16	1	0	3.27435e-08	0.020292	3.45488e-08	10	16		
SSPO	23145	broad.mit.edu	37	7	149482090	149482090	+	RNA	SNP	G	G	A	rs377746749	byFrequency	TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr7:149482090G>A	ENST00000378016.2	+	0	2878							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGTCCACCAGGCACGGTGCT	0.627																																						uc010lpk.2		NaN																	0					0						c.(2878-2880)GGC>AGC		SCO-spondin precursor							27.0	30.0	29.0					7																	149482090		2093	4217	6310			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149482090G>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149482090G>A						SSPO_uc010lpl.1_Silent_p.Q295Q	p.G960S	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		20	2878	+	Melanoma(164;0.165)|Ovarian(565;0.177)		960					Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.2878G>A																																																																																					0.627	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript					22	17	0	0	0	0.012319	0	22	17		
ASB10	136371	broad.mit.edu	37	7	150878038	150878038	+	Silent	SNP	C	C	G	rs151344614		TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr7:150878038C>G	ENST00000420175.2	-	3	1116	c.1092G>C	c.(1090-1092)ggG>ggC	p.G364G	ASB10_ENST00000434669.1_Silent_p.G409G|ASB10_ENST00000377867.3_Silent_p.G349G|ASB10_ENST00000275838.1_Silent_p.G364G|ASB10_ENST00000422024.1_Silent_p.G409G			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	364					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGGGAGGGCCCCTGGCCAGA	0.682																																						uc003wjm.1		NaN																	0					0						c.(1225-1227)GGG>GGC		ankyrin repeat and SOCS box-containing 10							8.0	9.0	9.0					7																	150878038		2171	4224	6395	SO:0001819	synonymous_variant	136371				intracellular signal transduction			g.chr7:150878038C>G	AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"""Ankyrin repeat domain containing"""	17185	protein-coding gene	gene with protein product		615054	"""ankyrin repeat and SOCS box-containing 10"", ""glaucoma 1, open angle, F (adult-onset)"""	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.1092G>C	7.37:g.150878038C>G						ASB10_uc003wjl.1_Silent_p.G409G|ASB10_uc003wjn.1_Silent_p.G349G	p.G409G	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1353	-			364					A0AVH0|Q6ZUL6	Silent	SNP	ENST00000420175.2	37	c.1227G>C	CCDS47750.2																																																																																				0.682	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347096.3		NM_080871		15	15	0	0	0	0.003163	0	15	15		
PTPRN2	5799	broad.mit.edu	37	7	157874068	157874068	+	Splice_Site	SNP	C	C	A	rs536072975		TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr7:157874068C>A	ENST00000389418.4	-	11	1654	c.1645G>T	c.(1645-1647)Gtt>Ttt	p.V549F	PTPRN2_ENST00000409483.1_Splice_Site_p.V511F|PTPRN2_ENST00000389416.4_Splice_Site_p.V532F|PTPRN2_ENST00000389413.3_Splice_Site_p.V520F|PTPRN2_ENST00000404321.2_Splice_Site_p.V572F	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	549					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GGTCCGAGAACCCTGGAAGGG	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		20630	0.0		0.0	False		,,,				2504	0.001					uc003wno.2		NaN																	0				ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7						c.(1645-1647)GTT>TTT		protein tyrosine phosphatase, receptor type, N							219.0	168.0	185.0					7																	157874068		2203	4300	6503	SO:0001630	splice_region_variant	5799					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:157874068C>A	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.1644-1G>T	7.37:g.157874068C>A						PTPRN2_uc003wnp.2_Missense_Mutation_p.V532F|PTPRN2_uc003wnq.2_Missense_Mutation_p.V520F|PTPRN2_uc003wnr.2_Missense_Mutation_p.V511F|PTPRN2_uc011kwa.1_Missense_Mutation_p.V572F	p.V549F	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)	11	1766	-	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	549			Extracellular (Potential).		E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	ENST00000389418.4	37	c.1645G>T	CCDS5947.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.589877	0.28357	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.07908	3.2;3.85;3.17;3.18;3.15	5.06	4.18	0.49190	.	0.000000	0.38492	N	0.001673	T	0.22820	0.0551	M	0.64170	1.965	0.42771	D	0.993832	D;D;D;D;P	0.76494	0.966;0.972;0.972;0.999;0.938	P;P;D;D;P	0.73708	0.814;0.883;0.943;0.981;0.835	T	0.00617	-1.1642	10	0.87932	D	0	.	9.6494	0.39888	0.0:0.8308:0.0:0.1692	.	572;511;520;532;549	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	F	511;520;532;549;572	ENSP00000387114:V511F;ENSP00000374064:V520F;ENSP00000374067:V532F;ENSP00000374069:V549F;ENSP00000385464:V572F	ENSP00000374064:V520F	V	-	1	0	PTPRN2	157566829	0.981000	0.34729	0.047000	0.18901	0.041000	0.13682	1.652000	0.37313	1.155000	0.42497	-0.141000	0.14075	GTT		0.473	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			Missense_Mutation	49	44	1	0	1.05386e-31	0.01441	1.40262e-31	49	44		
VIPR2	7434	broad.mit.edu	37	7	158824638	158824638	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr7:158824638C>T	ENST00000262178.2	-	11	1277	c.1092G>A	c.(1090-1092)ggG>ggA	p.G364G	VIPR2_ENST00000377633.3_Silent_p.G348G|VIPR2_ENST00000402066.1_Silent_p.G505G	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	364					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		CCTGGAACGACCCGAGGCACA	0.607																																					Pancreas(154;1876 1931 2329 17914 20079)	uc003woh.2		NaN																	0				lung(1)|central_nervous_system(1)	2						c.(1090-1092)GGG>GGA		vasoactive intestinal peptide receptor 2							112.0	112.0	112.0					7																	158824638		2203	4300	6503	SO:0001819	synonymous_variant	7434				cell-cell signaling	integral to plasma membrane		g.chr7:158824638C>T	CA449700, X95097	CCDS5950.1	7q36.3	2012-08-10			ENSG00000106018	ENSG00000106018		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	12695	protein-coding gene	gene with protein product	"""VIP and PACAP receptor 2"""	601970				7811244	Standard	NM_003382		Approved	VPAC2, VPAC2R	uc003woh.3	P41587	OTTHUMG00000151446	ENST00000262178.2:c.1092G>A	7.37:g.158824638C>T						VIPR2_uc010lqx.2_RNA	p.G364G	NM_003382	NP_003373	P41587	VIPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)	11	1278	-	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	364			Helical; Name=7; (Potential).		Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0	Silent	SNP	ENST00000262178.2	37	c.1092G>A	CCDS5950.1																																																																																				0.607	VIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322675.1		NM_003382		64	67	0	0	0	0.01441	0	64	67		
DLGAP2	9228	broad.mit.edu	37	8	1497669	1497669	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr8:1497669G>C	ENST00000421627.2	+	2	944	c.810G>C	c.(808-810)aaG>aaC	p.K270N		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	349					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		ACGACGTCAAGTGCTCGGCCT	0.672																																						uc003wpl.2		NaN																	0					0						c.(808-810)AAG>AAC		discs large-associated protein 2							40.0	46.0	44.0					8																	1497669		2150	4268	6418	SO:0001583	missense	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1497669G>C	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.810G>C	8.37:g.1497669G>C	ENSP00000400258:p.Lys270Asn					DLGAP2_uc003wpm.2_Missense_Mutation_p.K270N	p.K270N	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	2	907	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	349					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	c.810G>C	CCDS47760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.38|13.38	2.220408|2.220408	0.39201|0.39201	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000356067;ENST00000421627|ENST00000520901	T|.	0.18502|.	2.21|.	5.3|5.3	3.14|3.14	0.36123|0.36123	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76737|0.76737	0.4029|0.4029	M|M	0.88031|0.88031	2.925|2.925	0.35686|0.35686	D|D	0.814454|0.814454	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.997|.	T|T	0.82768|0.82768	-0.0294|-0.0294	10|5	0.87932|.	D|.	0|.	-18.4374|-18.4374	11.2755|11.2755	0.49163|0.49163	0.3078:0.0:0.6922:0.0|0.3078:0.0:0.6922:0.0	.|.	349;349|.	Q9P1A6-2;Q9P1A6|.	.;DLGP2_HUMAN|.	N|T	315;270|287	ENSP00000400258:K270N|.	ENSP00000348366:K315N|.	K|S	+|+	3|2	2|0	DLGAP2|DLGAP2	1485076|1485076	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.379000|0.379000	0.30106|0.30106	1.291000|1.291000	0.33330|0.33330	0.618000|0.618000	0.30179|0.30179	-0.797000|-0.797000	0.03246|0.03246	AAG|AGT		0.672	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1		NM_004745		65	7	0	0	0	0.01441	0	65	7		
CSMD1	64478	broad.mit.edu	37	8	2944710	2944710	+	Silent	SNP	A	A	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr8:2944710A>T	ENST00000520002.1	-	50	7941	c.7386T>A	c.(7384-7386)ccT>ccA	p.P2462P	CSMD1_ENST00000602723.1_Silent_p.P2462P|CSMD1_ENST00000400186.3_Silent_p.P2462P|CSMD1_ENST00000542608.1_Silent_p.P2461P|CSMD1_ENST00000602557.1_Silent_p.P2462P|CSMD1_ENST00000537824.1_Silent_p.P2461P			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2462	Sushi 14. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTCGGTATCCAGGCTTGCAAA	0.522																																						uc011kwk.1		NaN																	0				breast(20)|large_intestine(5)	25						c.(7384-7386)CCT>CCA		CUB and Sushi multiple domains 1 precursor							117.0	117.0	117.0					8																	2944710		2015	4184	6199	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:2944710A>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.7386T>A	8.37:g.2944710A>T						CSMD1_uc011kwj.1_Silent_p.P1791P|CSMD1_uc010lrg.2_Silent_p.P530P	p.P2462P	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	49	7776	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2462			Sushi 14.|Extracellular (Potential).		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.7386T>A		.	.	.	.	.	.	.	.	.	.	A	2.962	-0.214437	0.06101	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.68	0.234	0.15390	.	.	.	.	.	T	0.51466	0.1676	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36065	-0.9763	4	.	.	.	.	5.8865	0.18884	0.6518:0.1272:0.2211:0.0	.	.	.	.	R	1879	.	.	W	-	1	0	CSMD1	2932117	0.986000	0.35501	0.980000	0.43619	0.101000	0.19017	0.336000	0.19823	-0.173000	0.10761	0.379000	0.24179	TGG		0.522	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2		NM_033225		56	3	0	0	0	0.01441	0	56	3		
PTK2B	2185	broad.mit.edu	37	8	27297834	27297834	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr8:27297834G>C	ENST00000397501.1	+	26	2723	c.1915G>C	c.(1915-1917)Gag>Cag	p.E639Q	PTK2B_ENST00000346049.5_Missense_Mutation_p.E639Q|PTK2B_ENST00000397497.4_Missense_Mutation_p.E385Q|PTK2B_ENST00000420218.2_Missense_Mutation_p.E639Q|PTK2B_ENST00000544172.1_Missense_Mutation_p.E639Q|PTK2B_ENST00000517339.1_Missense_Mutation_p.E639Q|PTK2B_ENST00000338238.4_Missense_Mutation_p.E639Q	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	639	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	CGGGGTGCTGGAGAAAGGAGA	0.607																																						uc003xfn.1		NaN																	0				lung(3)|ovary(1)|skin(1)	5						c.(1915-1917)GAG>CAG		PTK2B protein tyrosine kinase 2 beta isoform a							81.0	75.0	77.0					8																	27297834		2203	4300	6503	SO:0001583	missense	2185				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	g.chr8:27297834G>C	U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"""protein tyrosine kinase 2 beta"", ""PTK2B protein tyrosine kinase 2 beta"""	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.1915G>C	8.37:g.27297834G>C	ENSP00000380638:p.Glu639Gln					PTK2B_uc003xfo.1_Missense_Mutation_p.E639Q|PTK2B_uc003xfp.1_Missense_Mutation_p.E639Q|PTK2B_uc003xfq.1_Missense_Mutation_p.E639Q|PTK2B_uc003xfr.1_Missense_Mutation_p.E385Q	p.E639Q	NM_173174	NP_775266	Q14289	FAK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	26	2723	+		Ovarian(32;2.72e-05)	639			Protein kinase.		D3DST0|Q13475|Q14290|Q16709|Q6PID4	Missense_Mutation	SNP	ENST00000397501.1	37	c.1915G>C	CCDS6057.1	.	.	.	.	.	.	.	.	.	.	G	34	5.327060	0.95708	.	.	ENSG00000120899	ENST00000397501;ENST00000539100;ENST00000338238;ENST00000544172;ENST00000346049;ENST00000420218;ENST00000517339;ENST00000397497	D;D;D;D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71	5.63	5.63	0.86233	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.89174	0.6640	L	0.53249	1.67	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.986	D;D;P	0.74023	0.982;0.964;0.835	D	0.89790	0.3967	10	0.87932	D	0	.	17.1716	0.86832	0.0:0.0:1.0:0.0	.	385;639;639	E9PBI4;Q14289-2;Q14289	.;.;FAK2_HUMAN	Q	639;644;639;639;639;639;639;385	ENSP00000380638:E639Q;ENSP00000342242:E639Q;ENSP00000440926:E639Q;ENSP00000332816:E639Q;ENSP00000391995:E639Q;ENSP00000427931:E639Q;ENSP00000380634:E385Q	ENSP00000342242:E639Q	E	+	1	0	PTK2B	27353751	1.000000	0.71417	0.992000	0.48379	0.964000	0.63967	9.853000	0.99521	2.663000	0.90544	0.655000	0.94253	GAG		0.607	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1		NM_004103		28	31	0	0	0	0.008361	0	28	31		
CHRNA2	1135	broad.mit.edu	37	8	27327365	27327365	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr8:27327365G>A	ENST00000520933.2	-	2	360	c.207C>T	c.(205-207)ggC>ggT	p.G69G	CHRNA2_ENST00000240132.2_Silent_p.G69G|CHRNA2_ENST00000407991.1_Silent_p.G69G			Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	69					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transport (GO:0006811)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Mecamylamine(DB00657)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Procaine(DB00721)|Rocuronium(DB00728)|Tubocurarine(DB01199)|Vecuronium(DB01339)	AGCGGTTGTAGCCCCGGAAGA	0.622																																						uc010lur.2		NaN																	0				ovary(1)	1						c.(205-207)GGC>GGT		cholinergic receptor, nicotinic, alpha	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine(DB01336)|Metocurine Iodide(DB00416)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)						92.0	90.0	91.0					8																	27327365		2203	4300	6503	SO:0001819	synonymous_variant	1135					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr8:27327365G>A	U62431	CCDS6059.1, CCDS64856.1	8p21	2012-02-11	2006-02-01		ENSG00000120903	ENSG00000120903		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1956	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 2 (neuronal)"""	118502	"""cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal)"""			1505988	Standard	NM_000742		Approved		uc010lur.3	Q15822	OTTHUMG00000102083	ENST00000520933.2:c.207C>T	8.37:g.27327365G>A						CHRNA2_uc011lal.1_Silent_p.G69G|CHRNA2_uc010lus.2_5'UTR	p.G69G	NM_000742	NP_000733	Q15822	ACHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	3	816	-		Ovarian(32;2.61e-05)	69			Extracellular.		A8KAX3|B4DK19|J3KMY9|Q9HAQ3	Silent	SNP	ENST00000520933.2	37	c.207C>T	CCDS6059.1																																																																																				0.622	CHRNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376125.4				77	9	0	0	0	0.01441	0	77	9		
GPR124	25960	broad.mit.edu	37	8	37698748	37698748	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr8:37698748G>T	ENST00000412232.2	+	19	2905	c.2892G>T	c.(2890-2892)agG>agT	p.R964S	GPR124_ENST00000315215.7_Missense_Mutation_p.R747S	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	964					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GCAACAGCAGGGCCTCCCTGG	0.637																																						uc003xkj.2		NaN																	0				large_intestine(2)|ovary(2)|skin(1)	5						c.(2890-2892)AGG>AGT		G protein-coupled receptor 124 precursor							37.0	43.0	41.0					8																	37698748		2203	4300	6503	SO:0001583	missense	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37698748G>T	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.2892G>T	8.37:g.37698748G>T	ENSP00000406367:p.Arg964Ser					GPR124_uc010lvy.2_Missense_Mutation_p.R747S	p.R964S	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		19	3255	+			964			Cytoplasmic (Potential).		A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	c.2892G>T	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	G	11.65	1.701725	0.30142	.	.	ENSG00000020181	ENST00000416514;ENST00000315215;ENST00000412232	T;T	0.58652	0.32;0.43	4.96	4.09	0.47781	.	0.485095	0.23208	N	0.050706	T	0.34803	0.0910	N	0.08118	0	0.22354	N	0.99917	B;B	0.31153	0.264;0.31	B;B	0.24848	0.033;0.056	T	0.21042	-1.0257	10	0.44086	T	0.13	-28.0178	11.805	0.52150	0.0825:0.0:0.9175:0.0	.	747;964	Q96PE1-2;Q96PE1	.;GP124_HUMAN	S	957;747;964	ENSP00000323508:R747S;ENSP00000406367:R964S	ENSP00000323508:R747S	R	+	3	2	GPR124	37817906	0.120000	0.22244	0.971000	0.41717	0.701000	0.40568	0.568000	0.23623	1.082000	0.41137	-0.137000	0.14449	AGG		0.637	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2				38	155	1	0	2.75727e-19	0.021022	3.30515e-19	38	155		
GPR124	25960	broad.mit.edu	37	8	37702487	37702487	+	IGR	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr8:37702487G>A	ENST00000412232.2	+	0	5651				BRF2_ENST00000220659.6_Missense_Mutation_p.P261S|BRF2_ENST00000520601.1_3'UTR	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124						central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GAGGACGCCGGGTAGGGCAGG	0.587																																						uc003xkk.2		NaN																	0					0						c.(781-783)CCG>TCG		RNA polymerase III transcription initiation							33.0	32.0	32.0					8																	37702487		2203	4300	6503	SO:0001628	intergenic_variant	55290				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding	g.chr8:37702487G>A	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182		8.37:g.37702487G>A							p.P261S	NM_018310	NP_060780	Q9HAW0	BRF2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)		4	891	-		Lung NSC(58;0.118)|all_lung(54;0.195)	261					A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	c.781C>T	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	G	18.81	3.704115	0.68615	.	.	ENSG00000104221	ENST00000220659;ENST00000545765	.	.	.	5.64	5.64	0.86602	.	0.110120	0.64402	D	0.000006	T	0.60599	0.2281	M	0.65498	2.005	0.80722	D	1	P	0.46621	0.881	P	0.45138	0.471	T	0.57596	-0.7784	9	0.10636	T	0.68	.	19.3136	0.94202	0.0:0.0:1.0:0.0	.	261	Q9HAW0	BRF2_HUMAN	S	261;238	.	ENSP00000220659:P261S	P	-	1	0	BRF2	37821645	1.000000	0.71417	0.995000	0.50966	0.646000	0.38490	4.854000	0.62918	2.659000	0.90383	0.655000	0.94253	CCG		0.587	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2				141	30	0	0	0	0.01441	0	141	30		
ADAM32	203102	broad.mit.edu	37	8	39103645	39103645	+	Missense_Mutation	SNP	C	C	T	rs142346085		TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr8:39103645C>T	ENST00000379907.4	+	17	1989	c.1862C>T	c.(1861-1863)gCt>gTt	p.A621V	ADAM32_ENST00000519315.1_Missense_Mutation_p.A515V|ADAM32_ENST00000437682.2_Missense_Mutation_p.A522V	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	621						integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			ATAATTAAGGCTTCAGCACAT	0.368													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18616	0.0		0.0	False		,,,				2504	0.0					uc003xmt.3		NaN																	0				ovary(1)|lung(1)|kidney(1)	3						c.(1861-1863)GCT>GTT		a disintegrin and metalloprotease domain 32		C	VAL/ALA	2,3768		0,2,1883	210.0	200.0	203.0		1862	-8.6	0.0	8	dbSNP_134	203	0,8216		0,0,4108	no	missense	ADAM32	NM_145004.5	64	0,2,5991	TT,TC,CC		0.0,0.0531,0.0167	possibly-damaging	621/788	39103645	2,11984	1885	4108	5993	SO:0001583	missense	203102				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:39103645C>T	BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"""ADAM metallopeptidase domain containing"""	15479	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 32"""			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.1862C>T	8.37:g.39103645C>T	ENSP00000369238:p.Ala621Val					ADAM32_uc011lch.1_Missense_Mutation_p.A522V|ADAM32_uc003xmu.3_Missense_Mutation_p.A515V|ADAM32_uc003xmv.2_Missense_Mutation_p.A45V	p.A621V	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)		17	2107	+		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	621			Extracellular (Potential).		Q8TC42	Missense_Mutation	SNP	ENST00000379907.4	37	c.1862C>T	CCDS47846.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	1.422	-0.572561	0.03882	5.31E-4	0.0	ENSG00000197140	ENST00000437682;ENST00000519315;ENST00000379907	T;T;T	0.03181	4.02;4.08;4.41	4.31	-8.61	0.00885	.	.	.	.	.	T	0.03348	0.0097	N	0.16266	0.395	0.09310	N	1	P;D;P;P	0.57899	0.495;0.981;0.665;0.498	B;P;B;B	0.50490	0.041;0.642;0.103;0.191	T	0.21177	-1.0253	9	0.25106	T	0.35	.	11.7851	0.52037	0.1482:0.5172:0.3346:0.0	.	522;45;515;621	E7EPX8;Q6ZP86;E7ER82;Q8TC27	.;.;.;ADA32_HUMAN	V	522;515;621	ENSP00000405978:A522V;ENSP00000429422:A515V;ENSP00000369238:A621V	ENSP00000369238:A621V	A	+	2	0	ADAM32	39222802	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.474000	0.00458	-3.687000	0.00121	-1.193000	0.01689	GCT		0.368	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377089.1		NM_145004		29	168	0	0	0	0.013726	0	29	168		
OPRK1	4986	broad.mit.edu	37	8	54142079	54142079	+	Silent	SNP	A	A	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr8:54142079A>G	ENST00000265572.3	-	4	1218	c.921T>C	c.(919-921)gcT>gcC	p.A307A	RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000524278.1_Silent_p.A218A|OPRK1_ENST00000520287.1_Silent_p.A307A	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	307					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	TGGAGAGAGCAGCTGTGCTGT	0.527																																						uc003xrh.1		NaN																	0				ovary(1)|skin(1)	2						c.(919-921)GCT>GCC		opioid receptor, kappa 1	Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)						75.0	68.0	70.0					8																	54142079		2203	4300	6503	SO:0001819	synonymous_variant	4986				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding	g.chr8:54142079A>G		CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556		"""GPCR / Class A : Opioid receptors"""	8154	protein-coding gene	gene with protein product		165196				8188308	Standard	XM_005251252		Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.921T>C	8.37:g.54142079A>G						OPRK1_uc003xri.1_Silent_p.A307A|OPRK1_uc010lyc.1_Silent_p.A218A	p.A307A	NM_000912	NP_000903	P41145	OPRK_HUMAN			3	1296	-		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)	307			Extracellular (Potential).		E5RHC9|Q499G4	Silent	SNP	ENST00000265572.3	37	c.921T>C	CCDS6152.1																																																																																				0.527	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1				27	28	0	0	0	0.004656	0	27	28		
TGS1	96764	broad.mit.edu	37	8	56717578	56717578	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr8:56717578C>T	ENST00000260129.5	+	10	2603	c.2126C>T	c.(2125-2127)gCc>gTc	p.A709V		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	709	Sufficient for catalytic activity.				7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			ATTCAGTTTGCCTTAACAGGA	0.398																																					Esophageal Squamous(34;275 823 4842 34837 48447)	uc003xsj.3		NaN																	0				ovary(1)|lung(1)|breast(1)	3						c.(2125-2127)GCC>GTC		trimethylguanosine synthase homolog							190.0	156.0	168.0					8																	56717578		2203	4300	6503	SO:0001583	missense	96764				cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity	g.chr8:56717578C>T	AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"""nuclear receptor coactivator 6 interacting protein"", ""trimethylguanosine synthase homolog (S. cerevisiae)"""	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.2126C>T	8.37:g.56717578C>T	ENSP00000260129:p.Ala709Val					TGS1_uc010lyh.2_Missense_Mutation_p.A613V	p.A709V	NM_024831	NP_079107	Q96RS0	TGS1_HUMAN	Epithelial(17;0.00027)|all cancers(17;0.00251)		10	2513	+		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	709			Sufficient for catalytic activity.		A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Missense_Mutation	SNP	ENST00000260129.5	37	c.2126C>T	CCDS34894.1	.	.	.	.	.	.	.	.	.	.	C	34	5.319625	0.95682	.	.	ENSG00000137574	ENST00000260129	T	0.61859	0.07	5.46	5.46	0.80206	.	0.050874	0.85682	D	0.000000	T	0.82148	0.4974	M	0.91249	3.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.86044	0.1521	10	0.87932	D	0	-11.4539	19.3112	0.94188	0.0:1.0:0.0:0.0	.	709;709	B2RBJ7;Q96RS0	.;TGS1_HUMAN	V	709	ENSP00000260129:A709V	ENSP00000260129:A709V	A	+	2	0	TGS1	56880132	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.590000	0.82653	2.556000	0.86216	0.650000	0.86243	GCC		0.398	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378152.1		NM_024831		42	56	0	0	0	0.010771	0	42	56		
CYP7A1	1581	broad.mit.edu	37	8	59409268	59409268	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr8:59409268G>A	ENST00000301645.3	-	3	940	c.803C>T	c.(802-804)tCc>tTc	p.S268F		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	268					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|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)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				ATCAAAGGTGGACAAAGTGTC	0.498									Neonatal Giant Cell Hepatitis																													uc003xtm.3		NaN																	0				ovary(1)	1						c.(802-804)TCC>TTC		cytochrome P450, family 7, subfamily A,							200.0	199.0	199.0					8																	59409268		2203	4300	6503	SO:0001583	missense	1581	Neonatal_Giant_Cell_Hepatitis	Familial Cancer Database	Neonatal Hemochromatosis	bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding	g.chr8:59409268G>A	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"""Cytochrome P450s"""	2651	protein-coding gene	gene with protein product	"""cholesterol 7 alpha-monooxygenase"""	118455	"""cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"""	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.803C>T	8.37:g.59409268G>A	ENSP00000301645:p.Ser268Phe						p.S268F	NM_000780	NP_000771	P22680	CP7A1_HUMAN			3	866	-		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	268					P78454|Q3MIL8|Q7KZ19	Missense_Mutation	SNP	ENST00000301645.3	37	c.803C>T	CCDS6171.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.926458	0.52759	.	.	ENSG00000167910	ENST00000301645	T	0.69040	-0.37	5.74	3.9	0.45041	.	0.058557	0.64402	D	0.000001	T	0.65637	0.2710	M	0.67953	2.075	0.47374	D	0.999403	P	0.52061	0.95	B	0.41619	0.361	T	0.70000	-0.4992	10	0.56958	D	0.05	-7.6004	15.322	0.74129	0.0:0.0:0.7447:0.2553	.	268	P22680	CP7A1_HUMAN	F	268	ENSP00000301645:S268F	ENSP00000301645:S268F	S	-	2	0	CYP7A1	59571822	1.000000	0.71417	0.837000	0.33122	0.377000	0.30045	6.580000	0.74040	0.837000	0.34925	0.563000	0.77884	TCC		0.498	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378190.1		NM_000780		101	132	0	0	0	0.01441	0	101	132		
EYA1	2138	broad.mit.edu	37	8	72211327	72211327	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr8:72211327G>C	ENST00000340726.3	-	9	1420	c.781C>G	c.(781-783)Ccg>Gcg	p.P261A	EYA1_ENST00000388741.2_Missense_Mutation_p.P227A|EYA1_ENST00000388742.4_Missense_Mutation_p.P261A|EYA1_ENST00000388740.3_Missense_Mutation_p.P228A|EYA1_ENST00000388743.2_Missense_Mutation_p.P260A|EYA1_ENST00000303824.7_Missense_Mutation_p.P255A|EYA1_ENST00000419131.1_Missense_Mutation_p.P256A	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	261					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CCAGATGGCGGTTCTTGAAGC	0.453																																						uc003xys.3		NaN																	0				ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5						c.(781-783)CCG>GCG		eyes absent 1 isoform b							266.0	224.0	238.0					8																	72211327		2203	4300	6503	SO:0001583	missense	2138				double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr8:72211327G>C	AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.781C>G	8.37:g.72211327G>C	ENSP00000342626:p.Pro261Ala					EYA1_uc003xyr.3_Missense_Mutation_p.P256A|EYA1_uc003xyt.3_Missense_Mutation_p.P228A|EYA1_uc010lzf.2_Missense_Mutation_p.P188A|EYA1_uc003xyu.2_Missense_Mutation_p.P261A|EYA1_uc011lfe.1_Missense_Mutation_p.P255A|EYA1_uc003xyv.2_Missense_Mutation_p.P139A	p.P261A	NM_172058	NP_742055	Q99502	EYA1_HUMAN	Epithelial(68;0.0837)|all cancers(69;0.247)		8	1068	-	Breast(64;0.046)		261					A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	ENST00000340726.3	37	c.781C>G	CCDS34906.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.194889	0.58017	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743;ENST00000419131	T;T;T;T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41;-1.41;-1.41;-1.41	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	D	0.83557	0.5280	L	0.28192	0.835	0.80722	D	1	D;B;B;D;B	0.76494	0.999;0.171;0.171;0.999;0.171	D;B;B;D;B	0.80764	0.994;0.137;0.137;0.994;0.137	T	0.80493	-0.1358	10	0.23302	T	0.38	-14.6338	19.164	0.93546	0.0:0.0:1.0:0.0	.	255;188;228;261;256	A6NCB9;Q0P517;Q99502-2;Q99502;G5E9R4	.;.;.;EYA1_HUMAN;.	A	261;261;229;228;255;227;260;256	ENSP00000373394:P261A;ENSP00000342626:P261A;ENSP00000373392:P228A;ENSP00000303221:P255A;ENSP00000373393:P227A;ENSP00000373395:P260A;ENSP00000410176:P256A	ENSP00000303221:P255A	P	-	1	0	EYA1	72373881	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	9.420000	0.97426	2.607000	0.88179	0.585000	0.79938	CCG		0.453	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2		NM_000503, NM_172060		51	78	0	0	0	0.01441	0	51	78		
CPNE3	8895	broad.mit.edu	37	8	87568404	87568404	+	Missense_Mutation	SNP	T	T	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr8:87568404T>G	ENST00000521271.1	+	16	1491	c.1329T>G	c.(1327-1329)aaT>aaG	p.N443K	CPNE3_ENST00000198765.4_Missense_Mutation_p.N443K	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	443	VWFA.				lipid metabolic process (GO:0006629)|protein phosphorylation (GO:0006468)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|transporter activity (GO:0005215)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						CTATAGTTAATGCCTCCAGGC	0.458																																						uc003ydv.2		NaN																	0				ovary(1)|skin(1)	2						c.(1327-1329)AAT>AAG		copine III							149.0	143.0	145.0					8																	87568404		2203	4300	6503	SO:0001583	missense	8895				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity	g.chr8:87568404T>G	AB014536	CCDS6243.1	8q21	2008-07-03				ENSG00000085719			2316	protein-coding gene	gene with protein product		604207				9430674	Standard	NM_003909		Approved		uc003ydv.2	O75131		ENST00000521271.1:c.1329T>G	8.37:g.87568404T>G	ENSP00000430934:p.Asn443Lys					CPNE3_uc003ydw.1_Missense_Mutation_p.N159K	p.N443K	NM_003909	NP_003900	O75131	CPNE3_HUMAN			16	1491	+			443			VWFA.		A8KA47|Q8IYA1	Missense_Mutation	SNP	ENST00000521271.1	37	c.1329T>G	CCDS6243.1	.	.	.	.	.	.	.	.	.	.	T	13.49	2.253866	0.39896	.	.	ENSG00000085719	ENST00000198765;ENST00000521271	T;T	0.21191	2.02;2.02	5.72	0.513	0.17000	von Willebrand factor, type A (1);Copine (1);	0.141027	0.64402	D	0.000006	T	0.15522	0.0374	L	0.35593	1.075	0.80722	D	1	B	0.22211	0.066	B	0.29176	0.099	T	0.10451	-1.0629	10	0.24483	T	0.36	-23.2161	11.3053	0.49332	0.0:0.0956:0.0:0.9044	.	443	O75131	CPNE3_HUMAN	K	443	ENSP00000198765:N443K;ENSP00000430934:N443K	ENSP00000198765:N443K	N	+	3	2	CPNE3	87637520	0.994000	0.37717	0.971000	0.41717	0.824000	0.46624	0.283000	0.18846	-0.117000	0.11872	0.528000	0.53228	AAT		0.458	CPNE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374994.1				62	63	0	0	0	0.01441	0	62	63		
KCNS2	3788	broad.mit.edu	37	8	99441294	99441294	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr8:99441294G>T	ENST00000287042.4	+	2	1437	c.1087G>T	c.(1087-1089)Gcc>Tcc	p.A363S	KCNS2_ENST00000521839.1_Missense_Mutation_p.A363S	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	363					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CACCATCCCTGCCTGCTGGTG	0.602																																					Pancreas(138;844 2489 9202 24627)	uc003yin.2		NaN																	0				ovary(1)	1						c.(1087-1089)GCC>TCC		potassium voltage-gated channel,							79.0	73.0	75.0					8																	99441294		2203	4300	6503	SO:0001583	missense	3788					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:99441294G>T	AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.1087G>T	8.37:g.99441294G>T	ENSP00000287042:p.Ala363Ser						p.A363S	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0448)		2	1437	+	Breast(36;2.4e-06)		363					A8KAN1	Missense_Mutation	SNP	ENST00000287042.4	37	c.1087G>T	CCDS6279.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.561164	0.45590	.	.	ENSG00000156486	ENST00000287042;ENST00000521839	D;D	0.98362	-4.89;-4.89	6.07	6.07	0.98685	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.95433	0.8517	N	0.25647	0.755	0.53688	D	0.999974	P	0.44139	0.827	B	0.40506	0.331	D	0.94865	0.8025	10	0.46703	T	0.11	.	13.7909	0.63140	0.0695:0.0:0.9305:0.0	.	363	Q9ULS6	KCNS2_HUMAN	S	363	ENSP00000287042:A363S;ENSP00000430712:A363S	ENSP00000287042:A363S	A	+	1	0	KCNS2	99510470	1.000000	0.71417	0.973000	0.42090	0.975000	0.68041	8.062000	0.89475	2.884000	0.98904	0.655000	0.94253	GCC		0.602	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1		NM_020697		52	51	1	0	4.88482e-21	0.01441	6.01126e-21	52	51		
PKHD1L1	93035	broad.mit.edu	37	8	110489565	110489565	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr8:110489565G>A	ENST00000378402.5	+	53	9133	c.9029G>A	c.(9028-9030)tGc>tAc	p.C3010Y		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3010					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTCCAGGATTGCTTTCCTGTA	0.413										HNSCC(38;0.096)																												uc003yne.2		NaN																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(9028-9030)TGC>TAC		fibrocystin L precursor							138.0	127.0	130.0					8																	110489565		1887	4106	5993	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110489565G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.9029G>A	8.37:g.110489565G>A	ENSP00000367655:p.Cys3010Tyr	HNSCC(38;0.096)					p.C3010Y	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		53	9133	+			3010			Extracellular (Potential).		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.9029G>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953125	0.73902	.	.	ENSG00000205038	ENST00000378402	D	0.92965	-3.14	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.91503	0.7317	M	0.67397	2.05	0.37357	D	0.911052	B	0.26483	0.15	B	0.26969	0.075	D	0.91143	0.4947	10	0.87932	D	0	.	17.3086	0.87202	0.0:0.0:1.0:0.0	.	3010	Q86WI1	PKHL1_HUMAN	Y	3010	ENSP00000367655:C3010Y	ENSP00000367655:C3010Y	C	+	2	0	PKHD1L1	110558741	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	5.258000	0.65479	2.685000	0.91497	0.585000	0.79938	TGC		0.413	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1		NM_177531		31	25	0	0	0	0.008361	0	31	25		
COL14A1	7373	broad.mit.edu	37	8	121279123	121279123	+	Splice_Site	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr8:121279123G>A	ENST00000297848.3	+	25	3343		c.e25+1		COL14A1_ENST00000309791.4_Splice_Site|COL14A1_ENST00000247781.3_Splice_Site|COL14A1_ENST00000432943.2_Splice_Site	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GCAAAAGAAGGTAAAAGAATA	0.353																																						uc003yox.2		NaN																	0				ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.e25+1		collagen, type XIV, alpha 1 precursor							146.0	146.0	146.0					8																	121279123		2203	4300	6503	SO:0001630	splice_region_variant	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121279123G>A		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.3073+1G>A	8.37:g.121279123G>A						COL14A1_uc003yoy.2_Missense_Mutation_p.G703D	p.V1025_splice	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		25	3338	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)								Splice_Site	SNP	ENST00000297848.3	37	c.3073_splice	CCDS34938.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.3|20.3	3.966163|3.966163	0.74131|0.74131	.|.	.|.	ENSG00000187955|ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781|ENST00000434620	.|T	.|0.54279	.|0.58	4.92|4.92	4.92|4.92	0.64577|0.64577	.|.	.|.	.|.	.|.	.|.	.|T	.|0.64670	.|0.2619	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.62784	.|-0.6781	.|5	.|.	.|.	.|.	.|.	16.5019|16.5019	0.84259|0.84259	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	.|D	-1|838	.|ENSP00000409461:G838D	.|.	.|G	+|+	.|2	.|0	COL14A1|COL14A1	121348304|121348304	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.865000|0.865000	0.49528|0.49528	7.192000|7.192000	0.77771|0.77771	2.546000|2.546000	0.85860|0.85860	0.655000|0.655000	0.94253|0.94253	.|GGT		0.353	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2		NM_021110	Intron	76	88	0	0	0	0.01441	0	76	88		
SMARCA2	6595	broad.mit.edu	37	9	2115870	2115870	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr9:2115870G>T	ENST00000382203.1	+	25	3714	c.3505G>T	c.(3505-3507)Gtc>Ttc	p.V1169F	SMARCA2_ENST00000357248.2_Missense_Mutation_p.V1169F|SMARCA2_ENST00000349721.2_Missense_Mutation_p.V1169F|SMARCA2_ENST00000382194.1_Missense_Mutation_p.V1169F			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1169	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GCAGAACGAGGTCCGGGTACT	0.572																																						uc003zhc.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(3505-3507)GTC>TTC		SWI/SNF-related matrix-associated							37.0	36.0	36.0					9																	2115870		2203	4300	6503	SO:0001583	missense	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2115870G>T	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.3505G>T	9.37:g.2115870G>T	ENSP00000371638:p.Val1169Phe					SMARCA2_uc003zhd.2_Missense_Mutation_p.V1169F|SMARCA2_uc010mha.2_Missense_Mutation_p.V1102F	p.V1169F	NM_003070	NP_003061	P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	25	3604	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	1169			Helicase C-terminal.		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	c.3505G>T	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169387	0.78339	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36	5.67	5.67	0.87782	Helicase, C-terminal (1);	0.000000	0.64402	D	0.000001	D	0.95169	0.8434	H	0.99752	4.75	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.91635	0.999;0.996;0.991	D	0.97261	0.9904	10	0.87932	D	0	-26.4974	19.7699	0.96359	0.0:0.0:1.0:0.0	.	770;1169;1169	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	F	1169	ENSP00000265773:V1169F;ENSP00000349788:V1169F;ENSP00000371638:V1169F;ENSP00000371629:V1169F	ENSP00000265773:V1169F	V	+	1	0	SMARCA2	2105870	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	9.869000	0.99810	2.680000	0.91292	0.563000	0.77884	GTC		0.572	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1		NM_003070		18	3	1	0	6.94344e-10	0.006122	7.51191e-10	18	3		
INSL4	3641	broad.mit.edu	37	9	5233806	5233806	+	Missense_Mutation	SNP	C	C	A	rs575960188	byFrequency	TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr9:5233806C>A	ENST00000239316.4	+	2	454	c.349C>A	c.(349-351)Cgt>Agt	p.R117S		NM_002195.1	NP_002186.1	Q14641	INSL4_HUMAN	insulin-like 4 (placenta)	117					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	insulin-like growth factor receptor binding (GO:0005159)|receptor binding (GO:0005102)	p.R117C(1)		endometrium(2)|lung(2)|skin(1)|urinary_tract(1)	6	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)		GAGAAGTGGACGTCACAGATT	0.383																																						uc003ziy.2		NaN																	1	Substitution - Missense(1)		endometrium(1)		0						c.(349-351)CGT>AGT		insulin-like 4 precursor							89.0	82.0	84.0					9																	5233806		2203	4300	6503	SO:0001583	missense	3641				cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction	extracellular space|soluble fraction	hormone activity|insulin-like growth factor receptor binding	g.chr9:5233806C>A		CCDS6459.1	9p24	2008-02-05			ENSG00000120211	ENSG00000120211			6087	protein-coding gene	gene with protein product		600910				8666396, 9730618	Standard	NM_002195		Approved	EPIL	uc003ziy.3	Q14641	OTTHUMG00000019494	ENST00000239316.4:c.349C>A	9.37:g.5233806C>A	ENSP00000239316:p.Arg117Ser						p.R117S	NM_002195	NP_002186	Q14641	INSL4_HUMAN		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)	2	454	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)	117					A8K678|Q5W127	Missense_Mutation	SNP	ENST00000239316.4	37	c.349C>A	CCDS6459.1	.	.	.	.	.	.	.	.	.	.	C	0.717	-0.784977	0.02907	.	.	ENSG00000120211	ENST00000239316	T	0.22134	1.97	1.33	-2.65	0.06095	.	7.786360	0.03780	U	0.261222	T	0.07234	0.0183	N	0.03608	-0.345	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.15549	-1.0433	10	0.16896	T	0.51	.	0.4391	0.00483	0.2436:0.3189:0.2418:0.1957	.	117	Q14641	INSL4_HUMAN	S	117	ENSP00000239316:R117S	ENSP00000239316:R117S	R	+	1	0	INSL4	5223806	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-2.492000	0.00973	-1.148000	0.02847	0.205000	0.17691	CGT		0.383	INSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051616.2		NM_002195		29	5	1	0	5.60225e-13	0.009535	6.31961e-13	29	5		
IFNA4	3441	broad.mit.edu	37	9	21187497	21187497	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr9:21187497G>A	ENST00000421715.1	-	1	101	c.34C>T	c.(34-36)Ctg>Ttg	p.L12L		NM_021068.2	NP_066546.1	P05014	IFNA4_HUMAN	interferon, alpha 4	12					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17				GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CTGAGCACCAGCACGGCCATC	0.502																																					NSCLC(154;890 1986 23660 27800 51138)	uc003zon.2		NaN																	0				ovary(1)|skin(1)	2						c.(34-36)CTG>TTG		interferon, alpha 4 precursor							25.0	28.0	27.0					9																	21187497		2201	4292	6493	SO:0001819	synonymous_variant	3441				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21187497G>A		CCDS6498.1	9p22	2010-08-24			ENSG00000236637	ENSG00000236637		"""Interferons"""	5425	protein-coding gene	gene with protein product		147564				1385305	Standard	NM_021068		Approved	MGC142200, IFN-alpha4a	uc003zon.2	P05014	OTTHUMG00000019660	ENST00000421715.1:c.34C>T	9.37:g.21187497G>A							p.L12L	NM_021068	NP_066546	P05014	IFNA4_HUMAN		GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	102	-			12					P13358|Q14CS4|Q5VV15	Silent	SNP	ENST00000421715.1	37	c.34C>T	CCDS6498.1																																																																																				0.502	IFNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051889.1		NM_021068		36	9	0	0	0	0.01441	0	36	9		
B4GALT1	2683	broad.mit.edu	37	9	33166812	33166812	+	Missense_Mutation	SNP	A	A	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr9:33166812A>T	ENST00000379731.4	-	1	542	c.356T>A	c.(355-357)gTg>gAg	p.V119E	B4GALT1_ENST00000535206.1_Missense_Mutation_p.V119E|RP11-326F20.5_ENST00000426270.1_RNA|RP11-326F20.5_ENST00000442432.1_RNA	NM_001497.3	NP_001488.2	P15291	B4GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1	119					acute inflammatory response (GO:0002526)|angiogenesis involved in wound healing (GO:0060055)|binding of sperm to zona pellucida (GO:0007339)|branching morphogenesis of an epithelial tube (GO:0048754)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|development of secondary sexual characteristics (GO:0045136)|epithelial cell development (GO:0002064)|extracellular matrix organization (GO:0030198)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|lactose biosynthetic process (GO:0005989)|leukocyte migration (GO:0050900)|mammary gland development (GO:0030879)|multicellular organism reproduction (GO:0032504)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|oligosaccharide biosynthetic process (GO:0009312)|penetration of zona pellucida (GO:0007341)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of acrosome reaction (GO:0060046)|regulation of cellular component movement (GO:0051270)|single fertilization (GO:0007338)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|desmosome (GO:0030057)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|glycocalyx (GO:0030112)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi trans cisterna (GO:0000138)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-tubulin binding (GO:0043014)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|beta-tubulin binding (GO:0048487)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|manganese ion binding (GO:0030145)|N-acetyllactosamine synthase activity (GO:0003945)|protein homodimerization activity (GO:0042803)|UDP-galactosyltransferase activity (GO:0035250)			endometrium(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)	14			LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	N-Acetyl-D-glucosamine(DB00141)	GGTGTGGGGCACTGGGACCGA	0.711																																						uc003zsg.2		NaN																	0					0						c.(355-357)GTG>GAG		UDP-Gal:betaGlcNAc beta 1,4-	N-Acetyl-D-glucosamine(DB00141)						22.0	28.0	26.0					9																	33166812		2199	4292	6491	SO:0001583	missense	2683				oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	basolateral plasma membrane|brush border membrane|desmosome|external side of plasma membrane|extracellular region|glycocalyx|Golgi cisterna membrane|Golgi trans cisterna|integral to membrane	alpha-tubulin binding|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|beta-tubulin binding|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity|protein binding|protein homodimerization activity	g.chr9:33166812A>T	X14085	CCDS6535.1	9p13	2013-02-19			ENSG00000086062	ENSG00000086062	2.4.1.22	"""Beta 4-glycosyltransferases"""	924	protein-coding gene	gene with protein product		137060		GGTB2		9597550	Standard	NM_001497		Approved	beta4Gal-T1	uc003zsg.2	P15291	OTTHUMG00000019764	ENST00000379731.4:c.356T>A	9.37:g.33166812A>T	ENSP00000369055:p.Val119Glu						p.V119E	NM_001497	NP_001488	P15291	B4GT1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	1	545	-			119			Lumenal (Potential).		B2R710|D3DRL2|Q12909|Q12910|Q12911|Q14456|Q14509|Q14523	Missense_Mutation	SNP	ENST00000379731.4	37	c.356T>A	CCDS6535.1	.	.	.	.	.	.	.	.	.	.	A	4.487	0.090230	0.08632	.	.	ENSG00000086062	ENST00000535206;ENST00000379731;ENST00000541701	T;T	0.39997	2.06;1.05	4.33	-5.36	0.02689	.	6.259770	0.00897	N	0.002309	T	0.25195	0.0612	L	0.51422	1.61	0.19575	N	0.999963	B	0.24823	0.112	B	0.14023	0.01	T	0.23655	-1.0182	10	0.02654	T	1	-26.0803	0.3229	0.00306	0.2228:0.2937:0.1952:0.2882	.	119	P15291	B4GT1_HUMAN	E	119;119;76	ENSP00000440341:V119E;ENSP00000369055:V119E	ENSP00000369055:V119E	V	-	2	0	B4GALT1	33156812	0.000000	0.05858	0.000000	0.03702	0.079000	0.17450	-0.060000	0.11712	-0.531000	0.06340	0.374000	0.22700	GTG		0.711	B4GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052039.1		NM_001497		21	33	0	0	0	0.014323	0	21	33		
NOL6	65083	broad.mit.edu	37	9	33468850	33468850	+	Silent	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr9:33468850C>A	ENST00000379471.2	-	8	1134	c.1047G>T	c.(1045-1047)ggG>ggT	p.G349G	NOL6_ENST00000455041.2_Silent_p.G289G|NOL6_ENST00000464829.1_5'UTR			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	349					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		AGACAAGGAACCCAGTAAACC	0.572																																						uc003zsz.2		NaN																	0				ovary(2)	2						c.(1045-1047)GGG>GGT		nucleolar protein family 6 alpha isoform							154.0	157.0	156.0					9																	33468850		2203	4300	6503	SO:0001819	synonymous_variant	65083				rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	g.chr9:33468850C>A	AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.1047G>T	9.37:g.33468850C>A						SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zta.2_Silent_p.G349G|NOL6_uc010mjv.2_Silent_p.G349G|NOL6_uc011lob.1_Silent_p.G289G|NOL6_uc003ztb.1_Silent_p.G349G	p.G349G	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)	8	1148	-			349					Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Silent	SNP	ENST00000379471.2	37	c.1047G>T																																																																																					0.572	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2		NM_022917		95	138	1	0	1.1777e-47	0.01441	1.64227e-47	95	138		
SPATA31D1	389763	broad.mit.edu	37	9	84607839	84607839	+	Silent	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr9:84607839G>T	ENST00000344803.2	+	4	2501	c.2454G>T	c.(2452-2454)ggG>ggT	p.G818G		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	818					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											ATGACTCAGGGGTGAGACTAG	0.458																																						uc004amn.2		NaN																	0					0						c.(2452-2454)GGG>GGT		hypothetical protein LOC389763							64.0	62.0	63.0					9																	84607839		1858	4086	5944	SO:0001819	synonymous_variant	389763					integral to membrane		g.chr9:84607839G>T		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2454G>T	9.37:g.84607839G>T							p.G818G	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			4	2501	+			818						Silent	SNP	ENST00000344803.2	37	c.2454G>T	CCDS47986.1																																																																																				0.458	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1		NM_001001670		37	60	1	0	1.47244e-24	0.00623	1.85729e-24	37	60		
ZCCHC6	79670	broad.mit.edu	37	9	88961372	88961372	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr9:88961372G>T	ENST00000375963.3	-	3	716	c.544C>A	c.(544-546)Cct>Act	p.P182T	ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375947.1_Missense_Mutation_p.P15T|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.P182T|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.P182T	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	182					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						GGCTTCCTAGGTCTGGACCTC	0.428																																						uc004aoq.2		NaN																	0				ovary(2)	2						c.(544-546)CCT>ACT		zinc finger, CCHC domain containing 6							203.0	185.0	191.0					9																	88961372		2203	4300	6503	SO:0001583	missense	79670				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding	g.chr9:88961372G>T	AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.544C>A	9.37:g.88961372G>T	ENSP00000365130:p.Pro182Thr					ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Missense_Mutation_p.P182T|ZCCHC6_uc004aou.2_Missense_Mutation_p.P182T|ZCCHC6_uc004aov.2_Missense_Mutation_p.P182T|ZCCHC6_uc004aow.2_Missense_Mutation_p.P182T	p.P182T	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN			3	759	-			182					Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	c.544C>A	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.087319	0.36855	.	.	ENSG00000083223	ENST00000375960;ENST00000375961;ENST00000375963;ENST00000427388;ENST00000375947	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	5.29	5.29	0.74685	.	0.167430	0.40908	D	0.000982	T	0.21674	0.0522	N	0.03115	-0.41	0.34873	D	0.743806	B;B;P;B	0.41450	0.1;0.049;0.75;0.197	B;B;B;B	0.41440	0.068;0.018;0.357;0.036	T	0.35450	-0.9788	10	0.49607	T	0.09	-4.7629	15.5332	0.75980	0.0:0.0:0.8617:0.1383	.	182;182;182;182	Q5VYS8-5;Q5VYS8-2;Q5VYS8-4;Q5VYS8	.;.;.;TUT7_HUMAN	T	182;182;182;15;15	ENSP00000365127:P182T;ENSP00000365128:P182T;ENSP00000365130:P182T;ENSP00000365114:P15T	ENSP00000365114:P15T	P	-	1	0	ZCCHC6	88151192	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.502000	0.45398	2.762000	0.94881	0.484000	0.47621	CCT		0.428	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1		NM_024617		55	85	1	0	7.50695e-29	0.01441	9.84955e-29	55	85		
CCDC180	100499483	broad.mit.edu	37	9	100124558	100124558	+	Intron	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr9:100124558C>A	ENST00000357054.1	+	39	4692				CCDC180_ENST00000395220.1_Intron|CCDC180_ENST00000529487.1_Missense_Mutation_p.S1290Y|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000375202.2_Missense_Mutation_p.S1290Y|MIR1302-8_ENST00000408342.1_RNA			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180							extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											GCCTGTGGGTCTCGGGGCAGC	0.587																																						uc011lut.1		NaN																	0				ovary(4)|large_intestine(2)|skin(1)	7						c.(4285-4287)TCT>TAT		hypothetical protein LOC57653							118.0	113.0	115.0					9																	100124558		2203	4300	6503	SO:0001627	intron_variant	57653							g.chr9:100124558C>A	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.3757+25C>A	9.37:g.100124558C>A						KIAA1529_uc004axe.1_Intron|KIAA1529_uc004axg.1_Missense_Mutation_p.S1290Y|KIAA1529_uc004axh.1_Intron|KIAA1529_uc011luw.1_Intron	p.S1429Y	NM_020893	NP_065944					40	5059	+		Acute lymphoblastic leukemia(62;0.154)						Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37	c.4286C>A		.	.	.	.	.	.	.	.	.	.	C	11.68	1.710565	0.30322	.	.	ENSG00000197816	ENST00000375202;ENST00000529487	T;T	0.09073	3.02;3.02	4.12	-1.17	0.09648	.	4.154440	0.00639	N	0.000501	T	0.08802	0.0218	N	0.22421	0.69	0.09310	N	0.999993	P	0.44044	0.825	P	0.46253	0.509	T	0.20773	-1.0265	9	.	.	.	-0.0729	5.9325	0.19146	0.0:0.3434:0.466:0.1906	.	1429	B7ZMG3	.	Y	1290	ENSP00000364348:S1290Y;ENSP00000434727:S1290Y	.	S	+	2	0	C9orf174	99164379	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.539000	0.06113	-0.205000	0.10219	0.655000	0.94253	TCT		0.587	CCDC180-201	KNOWN	basic	protein_coding	protein_coding			NM_020893		91	100	1	0	2.33925e-33	0.01441	3.12839e-33	91	100		
GABBR2	9568	broad.mit.edu	37	9	101148053	101148053	+	Splice_Site	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr9:101148053G>A	ENST00000259455.2	-	11	1990	c.1531C>T	c.(1531-1533)Ctc>Ttc	p.L511F		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	511					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	ATCTTTATGAGCCTGACAAGA	0.378																																						uc004ays.2		NaN																	0				ovary(2)|skin(2)	4						c.(1531-1533)CTC>TTC		G protein-coupled receptor 51 precursor	Baclofen(DB00181)						129.0	119.0	122.0					9																	101148053		2203	4300	6503	SO:0001630	splice_region_variant	9568				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr9:101148053G>A	AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4507	protein-coding gene	gene with protein product		607340	"""G protein-coupled receptor 51"""	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.1530-1C>T	9.37:g.101148053G>A							p.L511F	NM_005458	NP_005449	O75899	GABR2_HUMAN			11	1687	-		Acute lymphoblastic leukemia(62;0.0527)	511			Cytoplasmic (Potential).		O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Missense_Mutation	SNP	ENST00000259455.2	37	c.1531C>T	CCDS6736.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.585434	0.28268	.	.	ENSG00000136928	ENST00000259455	D	0.89617	-2.54	5.74	3.7	0.42460	GPCR, family 3, C-terminal (2);	0.000000	0.64402	D	0.000001	T	0.79353	0.4431	N	0.00621	-1.32	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.75886	-0.3159	10	0.16420	T	0.52	.	8.3325	0.32195	0.265:0.0:0.735:0.0	.	511	O75899	GABR2_HUMAN	F	511	ENSP00000259455:L511F	ENSP00000259455:L511F	L	-	1	0	GABBR2	100187874	1.000000	0.71417	1.000000	0.80357	0.506000	0.33950	2.448000	0.44926	1.265000	0.44215	0.563000	0.77884	CTC		0.378	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1			Missense_Mutation	29	45	0	0	0	0.010818	0	29	45		
ACTL7B	10880	broad.mit.edu	37	9	111618174	111618174	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr9:111618174C>A	ENST00000374667.3	-	1	1065	c.37G>T	c.(37-39)Gct>Tct	p.A13S		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	13						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TCACCCTGAGCCGTGCCCAGG	0.652																																						uc004bdi.2		NaN																	0				pancreas(1)	1						c.(37-39)GCT>TCT		actin-like 7B							56.0	58.0	57.0					9																	111618174		2203	4300	6503	SO:0001583	missense	10880					actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	g.chr9:111618174C>A	BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.37G>T	9.37:g.111618174C>A	ENSP00000363799:p.Ala13Ser						p.A13S	NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN			1	102	-			13					B2R9Q2|Q5JSV1	Missense_Mutation	SNP	ENST00000374667.3	37	c.37G>T	CCDS6771.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.556118	0.65425	.	.	ENSG00000148156	ENST00000374667	D	0.95103	-3.61	4.13	4.13	0.48395	.	0.877286	0.09226	U	0.831170	D	0.91808	0.7408	N	0.08118	0	0.32380	N	0.554647	D	0.67145	0.996	P	0.55260	0.772	D	0.89794	0.3970	10	0.87932	D	0	.	11.7624	0.51912	0.0:1.0:0.0:0.0	.	13	Q9Y614	ACL7B_HUMAN	S	13	ENSP00000363799:A13S	ENSP00000363799:A13S	A	-	1	0	ACTL7B	110657995	0.344000	0.24827	0.982000	0.44146	0.729000	0.41735	1.971000	0.40530	2.142000	0.66516	0.655000	0.94253	GCT		0.652	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053571.1		NM_006686		7	94	1	0	3.09899e-07	0.004482	3.24516e-07	7	94		
ACTL7A	10881	broad.mit.edu	37	9	111624682	111624682	+	Missense_Mutation	SNP	C	C	T	rs559552010		TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr9:111624682C>T	ENST00000333999.3	+	1	80	c.80C>T	c.(79-81)gCc>gTc	p.A27V		NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN	actin-like 7A	27						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|motile cilium (GO:0031514)|nucleus (GO:0005634)|protein complex (GO:0043234)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CAGACACAGGCCCTCCAGACT	0.617																																					Esophageal Squamous(177;1480 3591 17554)	uc004bdj.1		NaN																	0					0						c.(79-81)GCC>GTC		actin-like 7A							36.0	43.0	41.0					9																	111624682		2203	4300	6503	SO:0001583	missense	10881					cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton	g.chr9:111624682C>T	BC014610	CCDS6772.1	9q31	2008-02-05			ENSG00000187003	ENSG00000187003			161	protein-coding gene	gene with protein product		604303				10373328	Standard	NM_006687		Approved		uc004bdj.1	Q9Y615	OTTHUMG00000020461	ENST00000333999.3:c.80C>T	9.37:g.111624682C>T	ENSP00000334300:p.Ala27Val						p.A27V	NM_006687	NP_006678	Q9Y615	ACL7A_HUMAN			1	80	+			27					B2RC83|Q5JSV0	Missense_Mutation	SNP	ENST00000333999.3	37	c.80C>T	CCDS6772.1	.	.	.	.	.	.	.	.	.	.	C	7.267	0.606380	0.14002	.	.	ENSG00000187003	ENST00000333999	D	0.94687	-3.49	5.08	-3.14	0.05250	.	1.852020	0.03143	N	0.166886	D	0.86748	0.6007	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.77568	-0.2539	10	0.72032	D	0.01	.	7.7755	0.29035	0.0:0.6555:0.1548:0.1897	.	27	Q9Y615	ACL7A_HUMAN	V	27	ENSP00000334300:A27V	ENSP00000334300:A27V	A	+	2	0	ACTL7A	110664503	0.000000	0.05858	0.086000	0.20670	0.931000	0.56810	-1.829000	0.01701	-0.314000	0.08716	0.655000	0.94253	GCC		0.617	ACTL7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053570.1		NM_006687		50	63	0	0	0	0.01441	0	50	63		
KIAA0368	23392	broad.mit.edu	37	9	114204677	114204677	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr9:114204677C>A	ENST00000338205.5	-	4	517	c.298G>T	c.(298-300)Ggc>Tgc	p.G100C	KIAA0368_ENST00000259335.4_Missense_Mutation_p.G278C			Q5VYK3	ECM29_HUMAN	KIAA0368	106					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						CGAGGATAGCCCATTTTAACA	0.378																																						uc004bfe.1		NaN																	0					0						c.(832-834)GGC>TGC		KIAA0368 protein							59.0	57.0	58.0					9																	114204677		1880	4123	6003	SO:0001583	missense	23392							g.chr9:114204677C>A	AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.298G>T	9.37:g.114204677C>A	ENSP00000339889:p.Gly100Cys					KIAA0368_uc010muc.1_Missense_Mutation_p.G100C	p.G278C	NM_001080398	NP_001073867					6	832	-								O15074|Q8WU82	Missense_Mutation	SNP	ENST00000338205.5	37	c.832G>T		.	.	.	.	.	.	.	.	.	.	C	28.2	4.902456	0.92035	.	.	ENSG00000136813	ENST00000338205;ENST00000259335	T	0.60920	0.15	5.43	5.43	0.79202	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77465	0.4134	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79778	-0.1660	10	0.87932	D	0	.	19.2507	0.93923	0.0:1.0:0.0:0.0	.	106	Q5VYK3	ECM29_HUMAN	C	100;278	ENSP00000259335:G278C	ENSP00000259335:G278C	G	-	1	0	KIAA0368	113244498	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.428000	0.80296	2.538000	0.85594	0.563000	0.77884	GGC		0.378	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2		NM_014686		7	14	1	0	0.00198382	0.001984	0.00200185	7	14		
RNF183	138065	broad.mit.edu	37	9	116060181	116060181	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr9:116060181C>A	ENST00000478815.1	-	1	1864	c.284G>T	c.(283-285)gGc>gTc	p.G95V	RNF183_ENST00000297894.5_Missense_Mutation_p.G95V|RNF183_ENST00000416588.2_Missense_Mutation_p.G95V|RNF183_ENST00000478493.1_5'Flank|RNF183_ENST00000441031.3_Missense_Mutation_p.G95V			Q96D59	RN183_HUMAN	ring finger protein 183	95						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			lung(1)|prostate(1)|skin(1)	3						CAGCTGATGGCCTTCCAGGAT	0.657																																						uc004bgz.2		NaN																	0					0						c.(283-285)GGC>GTC		ring finger protein 183							37.0	44.0	42.0					9																	116060181		2115	4252	6367	SO:0001583	missense	138065					integral to membrane	zinc ion binding	g.chr9:116060181C>A		CCDS43866.1	9q32	2007-04-24			ENSG00000165188	ENSG00000165188		"""RING-type (C3HC4) zinc fingers"""	28721	protein-coding gene	gene with protein product						12477932	Standard	NM_145051		Approved	MGC4734	uc004bgz.3	Q96D59	OTTHUMG00000020520	ENST00000478815.1:c.284G>T	9.37:g.116060181C>A	ENSP00000419454:p.Gly95Val					RNF183_uc004bha.2_Missense_Mutation_p.G95V	p.G95V	NM_145051	NP_659488	Q96D59	RN183_HUMAN			2	402	-			95						Missense_Mutation	SNP	ENST00000478815.1	37	c.284G>T	CCDS43866.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.262383	0.80358	.	.	ENSG00000165188	ENST00000441031;ENST00000416588;ENST00000478815;ENST00000297894	T;T;T;T	0.21031	2.03;2.03;2.03;2.03	5.17	5.17	0.71159	.	0.882472	0.09801	N	0.754070	T	0.22003	0.0530	N	0.14661	0.345	0.80722	D	1	D	0.56521	0.976	P	0.50825	0.651	T	0.03086	-1.1074	10	0.41790	T	0.15	-53.4912	14.0388	0.64663	0.0:1.0:0.0:0.0	.	95	Q96D59	RN183_HUMAN	V	95	ENSP00000417176:G95V;ENSP00000420740:G95V;ENSP00000419454:G95V;ENSP00000417943:G95V	ENSP00000417943:G95V	G	-	2	0	RNF183	115100002	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	2.952000	0.49097	2.692000	0.91855	0.655000	0.94253	GGC		0.657	RNF183-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356360.1		NM_145051		52	40	1	0	3.19069e-20	0.01441	3.8749e-20	52	40		
PTGES2	80142	broad.mit.edu	37	9	130886051	130886051	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr9:130886051C>T	ENST00000338961.6	-	4	1360	c.616G>A	c.(616-618)Ggc>Agc	p.G206S	PTGES2_ENST00000277462.5_Missense_Mutation_p.G15S|PTGES2_ENST00000483625.1_5'UTR	NM_001256335.1|NM_025072.6	NP_001243264.1|NP_079348.1	Q9H7Z7	PGES2_HUMAN	prostaglandin E synthase 2	206					cell redox homeostasis (GO:0045454)|positive regulation of transcription, DNA-templated (GO:0045893)|prostaglandin biosynthetic process (GO:0001516)|secretion (GO:0046903)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|glutathione binding (GO:0043295)|heme binding (GO:0020037)|lyase activity (GO:0016829)|prostaglandin-E synthase activity (GO:0050220)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(1)|lung(2)	4						TACTTATTGCCGAACTCGGTC	0.592																																						uc004bti.2		NaN																	0					0						c.(616-618)GGC>AGC		prostaglandin E synthase 2							173.0	123.0	140.0					9																	130886051		2203	4300	6503	SO:0001583	missense	80142				cell redox homeostasis|prostaglandin biosynthetic process	Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm	electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity	g.chr9:130886051C>T	AK024100	CCDS6891.1	9q34.12	2008-05-06	2002-06-13	2002-06-14	ENSG00000148334	ENSG00000148334			17822	protein-coding gene	gene with protein product		608152	"""chromosome 9 open reading frame 15"""	C9orf15		11866447	Standard	NM_025072		Approved	FLJ14038	uc004bti.4	Q9H7Z7	OTTHUMG00000020730	ENST00000338961.6:c.616G>A	9.37:g.130886051C>T	ENSP00000345341:p.Gly206Ser					PTGES2_uc004btj.2_RNA|PTGES2_uc004btk.2_Missense_Mutation_p.G15S|PTGES2_uc004btl.2_Missense_Mutation_p.G15S|PTGES2_uc004btm.2_RNA	p.G206S	NM_025072	NP_079348	Q9H7Z7	PGES2_HUMAN			4	1094	-			206			Cytoplasmic (Potential).		Q53EW9|Q5SYV6|Q96GI0|Q96GL2	Missense_Mutation	SNP	ENST00000338961.6	37	c.616G>A	CCDS6891.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.732174	0.30684	.	.	ENSG00000148334	ENST00000338961;ENST00000277462;ENST00000449878	T;T;T	0.40225	2.58;1.04;2.58	5.84	-0.962	0.10333	Thioredoxin-like fold (1);	0.329789	0.40640	N	0.001045	T	0.19406	0.0466	N	0.22421	0.69	0.30688	N	0.751581	B	0.28128	0.201	B	0.14578	0.011	T	0.26121	-1.0112	10	0.13853	T	0.58	-0.0806	7.0448	0.25040	0.219:0.6084:0.0769:0.0957	.	206	Q9H7Z7	PGES2_HUMAN	S	206;15;171	ENSP00000345341:G206S;ENSP00000277462:G15S;ENSP00000411378:G171S	ENSP00000277462:G15S	G	-	1	0	PTGES2	129925872	1.000000	0.71417	0.868000	0.34077	0.656000	0.38851	1.482000	0.35486	-0.116000	0.11893	-0.397000	0.06425	GGC		0.592	PTGES2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054339.1				45	50	0	0	0	0.01441	0	45	50		
ZER1	10444	broad.mit.edu	37	9	131516169	131516169	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr9:131516169G>C	ENST00000291900.2	-	3	634	c.228C>G	c.(226-228)gaC>gaG	p.D76E	ZER1_ENST00000494461.1_5'UTR	NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	76					protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein transferase activity (GO:0051438)	Cul2-RING ubiquitin ligase complex (GO:0031462)	ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						TGCTGCGGGGGTCCGAAAAGA	0.627																																						uc004bwa.1		NaN																	0				ovary(1)	1						c.(226-228)GAC>GAG		zyg-11 homolog B (C. elegans)-like							37.0	26.0	30.0					9																	131516169		2201	4300	6501	SO:0001583	missense	10444				ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity	g.chr9:131516169G>C	X99802	CCDS6910.1	9q33.3	2013-01-17	2012-12-10	2007-01-04	ENSG00000160445	ENSG00000160445		"""ZYG11 cell cycle regulator family"""	30960	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 60"", ""zyg-11 homolog B (C. elegans)-like"", ""zer-1 homolog (C. elegans)"""	C9orf60, ZYG11BL		11719588	Standard	NM_006336		Approved	ZYG, Hzyg	uc004bwa.2	Q7Z7L7	OTTHUMG00000020759	ENST00000291900.2:c.228C>G	9.37:g.131516169G>C	ENSP00000291900:p.Asp76Glu						p.D76E	NM_006336	NP_006327	Q7Z7L7	ZER1_HUMAN			3	661	-			76					O00156|Q5T272|Q5T273	Missense_Mutation	SNP	ENST00000291900.2	37	c.228C>G	CCDS6910.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.641449	0.47153	.	.	ENSG00000160445	ENST00000291900;ENST00000414921;ENST00000427848	T	0.51574	0.7	5.4	3.44	0.39384	.	0.044027	0.85682	D	0.000000	T	0.29783	0.0744	N	0.20986	0.625	0.50171	D	0.999857	B	0.13145	0.007	B	0.12837	0.008	T	0.07009	-1.0795	10	0.42905	T	0.14	-42.3972	5.9223	0.19088	0.2482:0.1355:0.6162:0.0	.	76	Q7Z7L7	ZER1_HUMAN	E	76	ENSP00000291900:D76E	ENSP00000291900:D76E	D	-	3	2	ZER1	130555990	1.000000	0.71417	0.998000	0.56505	0.922000	0.55478	1.137000	0.31479	0.665000	0.31066	0.555000	0.69702	GAC		0.627	ZER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054491.1		NM_006336		5	10	0	0	0	0.014758	0	5	10		
GTF3C4	9329	broad.mit.edu	37	9	135553561	135553561	+	Silent	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr9:135553561G>C	ENST00000372146.4	+	2	1119	c.555G>C	c.(553-555)ctG>ctC	p.L185L	GTF3C4_ENST00000483873.2_Intron	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	185					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|positive regulation of catalytic activity (GO:0043085)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)|enzyme activator activity (GO:0008047)|histone acetyltransferase activity (GO:0004402)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		TGGCAGCACTGACCATGGACA	0.527																																					Pancreas(142;417 1875 11086 31973 47667)	uc010mzv.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(553-555)CTG>CTC		general transcription factor IIIC 4							98.0	93.0	95.0					9																	135553561		2203	4300	6503	SO:0001819	synonymous_variant	9329				transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding	g.chr9:135553561G>C	AF142328	CCDS6953.1	9q34.3	2011-07-01	2002-08-29		ENSG00000125484	ENSG00000125484		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""General transcription factors"""	4667	protein-coding gene	gene with protein product		604892	"""general transcription factor IIIC, polypeptide 4 (90kD)"""			10523658	Standard	NM_012204		Approved	TFIIIC90, KAT12	uc010mzv.3	Q9UKN8	OTTHUMG00000020842	ENST00000372146.4:c.555G>C	9.37:g.135553561G>C						GTF3C4_uc010mzw.2_RNA	p.L185L	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)	2	813	+			185					Q5VZJ7	Silent	SNP	ENST00000372146.4	37	c.555G>C	CCDS6953.1																																																																																				0.527	GTF3C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054792.1				56	51	0	0	0	0.01441	0	56	51		
ADAMTS13	11093	broad.mit.edu	37	9	136323081	136323081	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr9:136323081G>A	ENST00000371929.3	+	28	4386	c.3942G>A	c.(3940-3942)tcG>tcA	p.S1314S	CACFD1_ENST00000540581.1_5'Flank|ADAMTS13_ENST00000355699.2_Silent_p.S1258S|ADAMTS13_ENST00000371916.1_3'UTR|CACFD1_ENST00000542192.1_5'Flank|ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000371910.1_Silent_p.S110S|CACFD1_ENST00000291722.7_5'Flank|ADAMTS13_ENST00000356589.2_Silent_p.S1227S|CACFD1_ENST00000316948.4_5'Flank	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1314	CUB 2.		S -> L (found in a patient with hemolytic uremic syndrome; dbSNP:rs142060916). {ECO:0000269|PubMed:21488199}.		cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		TGAGCCCCTCGCTGAGTCCAG	0.607																																						uc004cdv.3		NaN																	0				central_nervous_system(2)|skin(2)|ovary(1)|kidney(1)	6						c.(3940-3942)TCG>TCA		ADAM metallopeptidase with thrombospondin type 1							65.0	64.0	64.0					9																	136323081		2203	4300	6503	SO:0001819	synonymous_variant	11093				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr9:136323081G>A	AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	1366	protein-coding gene	gene with protein product		604134	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"""	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.3942G>A	9.37:g.136323081G>A						ADAMTS13_uc004cdp.3_Intron|ADAMTS13_uc004cdt.1_Silent_p.S1258S|ADAMTS13_uc004cdu.1_Silent_p.S1227S|ADAMTS13_uc004cdw.3_Silent_p.S1258S|ADAMTS13_uc004cdx.3_Silent_p.S1227S|ADAMTS13_uc004cdz.3_Silent_p.S984S|ADAMTS13_uc004cea.1_3'UTR|ADAMTS13_uc004ceb.3_Silent_p.S110S|C9orf7_uc011mdg.1_5'Flank|C9orf7_uc004cec.2_5'Flank|C9orf7_uc011mdh.1_5'Flank|C9orf7_uc011mdi.1_5'Flank|C9orf7_uc010nan.2_5'Flank	p.S1314S	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	28	4386	+			1314			CUB 2.		Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Silent	SNP	ENST00000371929.3	37	c.3942G>A	CCDS6970.1																																																																																				0.607	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1		NM_139025		61	54	0	0	0	0.01441	0	61	54		
COL5A1	1289	broad.mit.edu	37	9	137701072	137701072	+	Missense_Mutation	SNP	A	A	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr9:137701072A>T	ENST00000371817.3	+	43	3824	c.3410A>T	c.(3409-3411)cAg>cTg	p.Q1137L		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1137	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GACGGTCTCCAGGGGCCTGTG	0.627																																						uc004cfe.2		NaN																	0				skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11						c.(3409-3411)CAG>CTG		alpha 1 type V collagen preproprotein							13.0	15.0	14.0					9																	137701072		2196	4291	6487	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137701072A>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.3410A>T	9.37:g.137701072A>T	ENSP00000360882:p.Gln1137Leu						p.Q1137L	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	43	3792	+		Myeloproliferative disorder(178;0.0341)	1137			Triple-helical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.3410A>T	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	A	18.09	3.546006	0.65198	.	.	ENSG00000130635	ENST00000371817	D	0.93659	-3.26	3.61	3.61	0.41365	.	0.000000	0.85682	U	0.000000	D	0.94709	0.8293	L	0.53561	1.675	0.58432	D	0.999999	D	0.54601	0.967	D	0.65140	0.932	D	0.94498	0.7707	10	0.56958	D	0.05	.	12.5006	0.55953	1.0:0.0:0.0:0.0	.	1137	P20908	CO5A1_HUMAN	L	1137	ENSP00000360882:Q1137L	ENSP00000360882:Q1137L	Q	+	2	0	COL5A1	136840893	1.000000	0.71417	0.980000	0.43619	0.974000	0.67602	9.112000	0.94314	1.412000	0.46977	0.523000	0.50628	CAG		0.627	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2		NM_000093		14	11	0	0	0	0.016723	0	14	11		
CAMSAP1	157922	broad.mit.edu	37	9	138719397	138719397	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr9:138719397G>C	ENST00000389532.4	-	8	1143	c.1079C>G	c.(1078-1080)cCt>cGt	p.P360R	CAMSAP1_ENST00000312405.6_Missense_Mutation_p.P82R|CAMSAP1_ENST00000483991.1_5'Flank|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.P371R	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	360					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CGGTACAGGAGGCCGGCTGCT	0.562																																						uc004cgr.3		NaN																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1078-1080)CCT>CGT		calmodulin regulated spectrin-associated protein							112.0	81.0	92.0					9																	138719397		2203	4300	6503	SO:0001583	missense	157922					cytoplasm|microtubule		g.chr9:138719397G>C	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.1079C>G	9.37:g.138719397G>C	ENSP00000374183:p.Pro360Arg					CAMSAP1_uc004cgq.3_Missense_Mutation_p.P250R|CAMSAP1_uc010nbg.2_Missense_Mutation_p.P82R	p.P360R	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	8	1079	-			360					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	ENST00000389532.4	37	c.1079C>G	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750129	0.89753	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.17054	2.41;2.3;2.39	5.11	5.11	0.69529	.	0.170444	0.52532	D	0.000062	T	0.46698	0.1406	M	0.80847	2.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.989	T	0.52208	-0.8606	10	0.87932	D	0	0.2736	18.5623	0.91105	0.0:0.0:1.0:0.0	.	360;371	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	R	360;82;371	ENSP00000374183:P360R;ENSP00000312463:P82R;ENSP00000386420:P371R	ENSP00000312463:P82R	P	-	2	0	CAMSAP1	137859218	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	9.207000	0.95064	2.391000	0.81399	0.655000	0.94253	CCT		0.562	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2		XM_351857		19	32	0	0	0	0.008871	0	19	32		
NOTCH1	4851	broad.mit.edu	37	9	139418227	139418227	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr9:139418227G>A	ENST00000277541.6	-	3	420	c.345C>T	c.(343-345)ggC>ggT	p.G115G	NOTCH1_ENST00000491649.1_5'UTR	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	115	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGTCGCAGGTGCCCCCGTTGC	0.687			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2		NaN		Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(343-345)GGC>GGT		notch1 preproprotein							21.0	31.0	28.0					9																	139418227		2137	4239	6376	SO:0001819	synonymous_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139418227G>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.345C>T	9.37:g.139418227G>A		HNSCC(8;0.001)					p.G115G	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	3	345	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	115			Extracellular (Potential).|EGF-like 3.		Q59ED8|Q5SXM3	Silent	SNP	ENST00000277541.6	37	c.345C>T	CCDS43905.1																																																																																				0.687	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1		NM_017617		19	15	0	0	0	0.014323	0	19	15		
MAMDC4	158056	broad.mit.edu	37	9	139751262	139751262	+	Missense_Mutation	SNP	C	C	A	rs142680518		TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr9:139751262C>A	ENST00000317446.2	+	15	1871	c.1821C>A	c.(1819-1821)gaC>gaA	p.D607E	MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000445819.1_Missense_Mutation_p.D686E	NM_206920.2	NP_996803.2			MAM domain containing 4											breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CTGACCACGACCACACCACAG	0.647																																						uc004cjs.2		NaN																	0				breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7						c.(1819-1821)GAC>GAA		apical early endosomal glycoprotein precursor							45.0	40.0	42.0					9																	139751262		2196	4296	6492	SO:0001583	missense	158056				protein transport	integral to membrane		g.chr9:139751262C>A	AL834531	CCDS7010.1	9q34.3	2013-10-21			ENSG00000177943	ENSG00000177943			24083	protein-coding gene	gene with protein product	"""apical early endosomal glycoprotein precursor"", ""endotubin"""					7829488	Standard	NM_206920		Approved	AEGP, DKFZp434M1411	uc004cjs.3	Q6UXC1	OTTHUMG00000020951	ENST00000317446.2:c.1821C>A	9.37:g.139751262C>A	ENSP00000319388:p.Asp607Glu					MAMDC4_uc011mej.1_5'UTR	p.D607E	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	15	1871	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)	686			MAM 4.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000317446.2	37	c.1821C>A	CCDS7010.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	16.58|16.58	3.163937|3.163937	0.57476|0.57476	.|.	.|.	ENSG00000177943|ENSG00000177943	ENST00000317446;ENST00000445819|ENST00000413647	T;T|.	0.03607|.	3.87;3.87|.	5.05|5.05	2.2|2.2	0.27929|0.27929	.|.	0.110667|.	0.39544|.	N|.	0.001330|.	T|T	0.80412|0.80412	0.4618|0.4618	H|H	0.97415|0.97415	4|4	0.32921|0.32921	D|D	0.515785|0.515785	P|.	0.37731|.	0.607|.	P|.	0.49829|.	0.623|.	D|D	0.83948|0.83948	0.0315|0.0315	10|5	0.62326|.	D|.	0.03|.	-35.0179|-35.0179	9.2488|9.2488	0.37543|0.37543	0.0:0.7752:0.0:0.2248|0.0:0.7752:0.0:0.2248	.|.	607|.	Q6UXC1-2|.	.|.	E|T	607;686|672	ENSP00000319388:D607E;ENSP00000411339:D686E|.	ENSP00000319388:D607E|.	D|P	+|+	3|1	2|0	MAMDC4|MAMDC4	138871083|138871083	0.998000|0.998000	0.40836|0.40836	0.821000|0.821000	0.32701|0.32701	0.270000|0.270000	0.26580|0.26580	1.603000|1.603000	0.36794|0.36794	0.168000|0.168000	0.19655|0.19655	0.549000|0.549000	0.68633|0.68633	GAC|CCA		0.647	MAMDC4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254642.3		NM_206920		12	16	1	0	4.36969e-10	0.016723	4.74595e-10	12	16		
ENTPD8	377841	broad.mit.edu	37	9	140330634	140330634	+	Missense_Mutation	SNP	T	T	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr9:140330634T>G	ENST00000472938.1	-	6	897	c.881A>C	c.(880-882)cAc>cCc	p.H294P	ENTPD8_ENST00000344119.2_Missense_Mutation_p.H294P|ENTPD8_ENST00000371506.2_Missense_Mutation_p.H294P			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	294					nucleoside diphosphate biosynthetic process (GO:0009133)|nucleoside monophosphate biosynthetic process (GO:0009124)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		GGGCGTGGCGTGGACACAGGG	0.657																																						uc004cmw.2		NaN																	0				skin(1)	1						c.(880-882)CAC>CCC		ectonucleoside triphosphate diphosphohydrolase 8							45.0	45.0	45.0					9																	140330634		2203	4299	6502	SO:0001583	missense	377841					integral to membrane|plasma membrane	ATP binding	g.chr9:140330634T>G	AY359088	CCDS7043.1, CCDS43913.1	9q34.3	2013-09-20			ENSG00000188833	ENSG00000188833			24860	protein-coding gene	gene with protein product	"""GLSR2492"""					12975309	Standard	NM_198585		Approved	UNQ2492, NTPDase-8	uc004cmw.3	Q5MY95	OTTHUMG00000131831	ENST00000472938.1:c.881A>C	9.37:g.140330634T>G	ENSP00000420531:p.His294Pro					C9orf167_uc011mew.1_Intron|ENTPD8_uc004cmx.2_Missense_Mutation_p.H294P	p.H294P	NM_001033113	NP_001028285	Q5MY95	ENTP8_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)	7	1065	-	all_cancers(76;0.0926)		294			Extracellular (Potential).		A2BG17|Q6UVZ0	Missense_Mutation	SNP	ENST00000472938.1	37	c.881A>C	CCDS43913.1	.	.	.	.	.	.	.	.	.	.	T	8.399	0.841450	0.16963	.	.	ENSG00000188833	ENST00000344119;ENST00000371506;ENST00000472938	T;T;T	0.13089	2.62;2.74;2.74	4.17	0.25	0.15535	.	0.696895	0.13792	N	0.362464	T	0.05731	0.0150	N	0.05351	-0.065	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.38436	-0.9661	10	0.30078	T	0.28	-6.9114	5.5058	0.16854	0.0:0.1854:0.4814:0.3332	.	294;294	Q5MY95-2;Q5MY95	.;ENTP8_HUMAN	P	294	ENSP00000344089:H294P;ENSP00000360561:H294P;ENSP00000420531:H294P	ENSP00000344089:H294P	H	-	2	0	ENTPD8	139450455	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.738000	0.01842	-0.111000	0.12001	0.379000	0.24179	CAC		0.657	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355991.1		NM_198585		35	49	0	0	0	0.015359	0	35	49		
TLR8	51311	broad.mit.edu	37	X	12939700	12939700	+	Silent	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chrX:12939700G>C	ENST00000218032.6	+	2	2628	c.2541G>C	c.(2539-2541)ctG>ctC	p.L847L	TLR8_ENST00000311912.5_Silent_p.L865L	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	847					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	TGGCTGCCCTGGCTCACCATT	0.393																																						uc004cve.2		NaN																	0				ovary(4)|lung(2)|large_intestine(1)	7						c.(2539-2541)CTG>CTC		toll-like receptor 8 precursor							138.0	132.0	134.0					X																	12939700		2203	4300	6503	SO:0001819	synonymous_variant	51311				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	g.chrX:12939700G>C	AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.2541G>C	X.37:g.12939700G>C						TLR8_uc004cvd.2_Silent_p.L865L	p.L847L	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN			2	2609	+			847			Helical; (Potential).		B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Silent	SNP	ENST00000218032.6	37	c.2541G>C	CCDS14152.1																																																																																				0.393	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2		NM_016610		67	9	0	0	0	0.01441	0	67	9		
CDKL5	6792	broad.mit.edu	37	X	18622501	18622501	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chrX:18622501C>A	ENST00000379989.3	+	13	1742	c.1457C>A	c.(1456-1458)gCc>gAc	p.A486D	CDKL5_ENST00000379996.3_Missense_Mutation_p.A486D|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	486					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					AGGACCAAGGCCAAAAGCCAT	0.532																																						uc004cym.2		NaN																	0				ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6						c.(1456-1458)GCC>GAC		cyclin-dependent kinase-like 5							109.0	102.0	105.0					X																	18622501		2203	4300	6503	SO:0001583	missense	6792				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18622501C>A	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.1457C>A	X.37:g.18622501C>A	ENSP00000369325:p.Ala486Asp					CDKL5_uc004cyn.2_Missense_Mutation_p.A486D	p.A486D	NM_003159	NP_003150	O76039	CDKL5_HUMAN			12	1710	+	Hepatocellular(33;0.183)		486					G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	c.1457C>A	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.302802	0.60195	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.71698	-0.59;-0.59	6.06	6.06	0.98353	.	0.142348	0.64402	D	0.000004	T	0.58666	0.2138	N	0.14661	0.345	0.43879	D	0.996499	P	0.38922	0.651	B	0.36030	0.216	T	0.65109	-0.6248	10	0.87932	D	0	-9.9592	19.5104	0.95139	0.0:1.0:0.0:0.0	.	486	O76039	CDKL5_HUMAN	D	486	ENSP00000369332:A486D;ENSP00000369325:A486D	ENSP00000369325:A486D	A	+	2	0	CDKL5	18532422	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.562000	0.86427	0.600000	0.82982	GCC		0.532	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2		NM_003159		65	11	1	0	3.8688e-20	0.01441	4.68818e-20	65	11		
CDKL5	6792	broad.mit.edu	37	X	18622521	18622521	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chrX:18622521A>G	ENST00000379989.3	+	13	1762	c.1477A>G	c.(1477-1479)Agt>Ggt	p.S493G	CDKL5_ENST00000379996.3_Missense_Mutation_p.S493G|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	493					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					TGGGGCACTGAGTGACTCCAA	0.517																																						uc004cym.2		NaN																	0				ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6						c.(1477-1479)AGT>GGT		cyclin-dependent kinase-like 5							121.0	113.0	116.0					X																	18622521		2203	4300	6503	SO:0001583	missense	6792				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18622521A>G	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.1477A>G	X.37:g.18622521A>G	ENSP00000369325:p.Ser493Gly					CDKL5_uc004cyn.2_Missense_Mutation_p.S493G	p.S493G	NM_003159	NP_003150	O76039	CDKL5_HUMAN			12	1730	+	Hepatocellular(33;0.183)		493					G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	c.1477A>G	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	A	16.55	3.153987	0.57259	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.73897	-0.79;-0.79	6.06	6.06	0.98353	.	0.159925	0.64402	D	0.000002	T	0.60637	0.2284	L	0.27053	0.805	0.35441	D	0.794874	P	0.43094	0.799	B	0.32762	0.152	T	0.73257	-0.4040	10	0.56958	D	0.05	-20.596	15.4998	0.75687	1.0:0.0:0.0:0.0	.	493	O76039	CDKL5_HUMAN	G	493	ENSP00000369332:S493G;ENSP00000369325:S493G	ENSP00000369325:S493G	S	+	1	0	CDKL5	18532442	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	8.962000	0.93254	2.044000	0.60594	0.486000	0.48141	AGT		0.517	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2		NM_003159		60	11	0	0	0	0.01441	0	60	11		
MAGEB18	286514	broad.mit.edu	37	X	26157994	26157994	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chrX:26157994G>T	ENST00000325250.1	+	2	1079	c.892G>T	c.(892-894)Gcc>Tcc	p.A298S		NM_173699.3	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	298	Interaction with LNX1.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						CGTCCCTAGTGCCTTCCCATC	0.522																																						uc004dbq.1		NaN																	0				central_nervous_system(1)	1						c.(892-894)GCC>TCC		melanoma antigen family B, 18							76.0	48.0	57.0					X																	26157994		2202	4300	6502	SO:0001583	missense	286514						protein binding	g.chrX:26157994G>T	AK057361	CCDS14216.1	Xp21.3	2008-02-05			ENSG00000176774	ENSG00000176774			28515	protein-coding gene	gene with protein product							Standard	NM_173699		Approved	MGC33889	uc004dbq.2	Q96M61	OTTHUMG00000021282	ENST00000325250.1:c.892G>T	X.37:g.26157994G>T	ENSP00000314543:p.Ala298Ser						p.A298S	NM_173699	NP_775970	Q96M61	MAGBI_HUMAN			2	1079	+			298			MAGE.			Missense_Mutation	SNP	ENST00000325250.1	37	c.892G>T	CCDS14216.1	.	.	.	.	.	.	.	.	.	.	G	8.431	0.848697	0.17034	.	.	ENSG00000176774	ENST00000325250	T	0.01584	4.75	4.45	2.62	0.31277	.	0.736785	0.12418	N	0.470681	T	0.00875	0.0029	N	0.12637	0.245	0.21499	N	0.999662	P	0.46987	0.888	B	0.34242	0.178	T	0.44832	-0.9302	10	0.13853	T	0.58	.	4.4705	0.11710	0.117:0.0:0.6563:0.2267	.	298	Q96M61	MAGBI_HUMAN	S	298	ENSP00000314543:A298S	ENSP00000314543:A298S	A	+	1	0	MAGEB18	26067915	0.971000	0.33674	0.561000	0.28357	0.311000	0.27955	2.313000	0.43735	0.584000	0.29591	0.600000	0.82982	GCC		0.522	MAGEB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056120.1		NM_173699		12	1	1	0	5.16669e-11	0.010729	5.67824e-11	12	1		
ZXDA	7789	broad.mit.edu	37	X	57936038	57936038	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chrX:57936038G>A	ENST00000358697.4	-	1	1029	c.817C>T	c.(817-819)Ctg>Ttg	p.L273L		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	273	Required for interaction with ZXDC.				positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						TGCCCGCACAGCGCCTCGGGG	0.711																																						uc004dve.2		NaN																	0				ovary(1)	1						c.(817-819)CTG>TTG		zinc finger, X-linked, duplicated A							13.0	14.0	13.0					X																	57936038		2194	4297	6491	SO:0001819	synonymous_variant	7789				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:57936038G>A	L14787	CCDS14376.1	Xp11.21	2013-01-08			ENSG00000198205	ENSG00000198205		"""Zinc fingers, C2H2-type"""	13198	protein-coding gene	gene with protein product	"""zinc finger protein 896"""	300235				8268913	Standard	NM_007156		Approved	ZNF896	uc004dve.3	P98168	OTTHUMG00000021688	ENST00000358697.4:c.817C>T	X.37:g.57936038G>A							p.L273L	NM_007156	NP_009087	P98168	ZXDA_HUMAN			1	1030	-			273			C2H2-type 1.|Required for interaction with ZXDC.		Q9UJP7	Silent	SNP	ENST00000358697.4	37	c.817C>T	CCDS14376.1																																																																																				0.711	ZXDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056925.1		NM_007156		7	2	0	0	0	0.006214	0	7	2		
OTUD6A	139562	broad.mit.edu	37	X	69282757	69282757	+	Missense_Mutation	SNP	A	A	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chrX:69282757A>T	ENST00000338352.2	+	1	417	c.383A>T	c.(382-384)gAg>gTg	p.E128V		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU deubiquitinase 6A	128					protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)		ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						AAGCGCGAGGAGGAGGAGAAG	0.627																																						uc004dxu.1		NaN																	0				lung(1)|skin(1)	2						c.(382-384)GAG>GTG		OTU domain containing 6A							26.0	19.0	22.0					X																	69282757		2182	4276	6458	SO:0001583	missense	139562							g.chrX:69282757A>T	AK098697	CCDS14395.1	Xq13.1	2014-02-24	2014-02-24			ENSG00000189401		"""OTU domain containing"""	32312	protein-coding gene	gene with protein product		300714	"""OTU domain containing 6A"""			23827681	Standard	NM_207320		Approved	FLJ25831, HSHIN6, DUBA2	uc004dxu.1	Q7L8S5		ENST00000338352.2:c.383A>T	X.37:g.69282757A>T	ENSP00000339389:p.Glu128Val						p.E128V	NM_207320	NP_997203	Q7L8S5	OTU6A_HUMAN			1	417	+			128					B2RPB7	Missense_Mutation	SNP	ENST00000338352.2	37	c.383A>T	CCDS14395.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.944116	0.73672	.	.	ENSG00000189401	ENST00000338352	T	0.44881	0.91	4.2	4.2	0.49525	.	0.000000	0.85682	D	0.000000	T	0.65407	0.2688	M	0.86268	2.805	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70842	-0.4762	10	0.87932	D	0	.	10.6562	0.45675	1.0:0.0:0.0:0.0	.	128	Q7L8S5	OTU6A_HUMAN	V	128	ENSP00000339389:E128V	ENSP00000339389:E128V	E	+	2	0	OTUD6A	69199482	1.000000	0.71417	0.039000	0.18376	0.002000	0.02628	7.170000	0.77587	1.878000	0.54408	0.451000	0.29950	GAG		0.627	OTUD6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358763.1		NM_207320		6	1	0	0	0	0.001168	0	6	1		
ATP7A	538	broad.mit.edu	37	X	77271359	77271359	+	Silent	SNP	A	A	G	rs61053012	byFrequency	TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chrX:77271359A>G	ENST00000341514.6	+	12	2762	c.2607A>G	c.(2605-2607)gtA>gtG	p.V869V	ATP7A_ENST00000343533.5_Silent_p.V791V|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	869					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	ATTCTATGGTAGATGAGTCCC	0.378																																						uc004ecx.3		NaN																	0					0						c.(2605-2607)GTA>GTG		ATPase, Cu++ transporting, alpha polypeptide		A		2,3833		0,1,1,1631,570	166.0	141.0	149.0		2607	-4.7	1.0	X	dbSNP_129	149	0,6723		0,0,0,2427,1869	no	coding-synonymous	ATP7A	NM_000052.4		0,1,1,4058,2439	GG,GA,G,AA,A		0.0,0.0522,0.0189		869/1501	77271359	2,10556	2203	4296	6499	SO:0001819	synonymous_variant	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77271359A>G	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.2607A>G	X.37:g.77271359A>G							p.V869V	NM_000052	NP_000043	Q04656	ATP7A_HUMAN			12	2767	+			869			Cytoplasmic (Potential).		B1AT72|O00227|O00745|Q9BYY8	Silent	SNP	ENST00000341514.6	37	c.2607A>G	CCDS35339.1																																																																																				0.378	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1		NM_000052		60	1	0	0	0	0.01441	0	60	1		
PLXNB3	5365	broad.mit.edu	37	X	153037013	153037013	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chrX:153037013G>A	ENST00000361971.5	+	14	2534	c.2420G>A	c.(2419-2421)tGc>tAc	p.C807Y	PLXNB3_ENST00000538282.1_Missense_Mutation_p.C417Y|PLXNB3_ENST00000538966.1_Missense_Mutation_p.C830Y|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538776.1_Missense_Mutation_p.C460Y	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	807	PSI 3.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCCTGGGCTGCCTGTGGTGT	0.672																																						uc004fii.2		NaN																	0				lung(1)	1						c.(2419-2421)TGC>TAC		plexin B3 isoform 1							24.0	25.0	24.0					X																	153037013		2182	4285	6467	SO:0001583	missense	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153037013G>A	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.2420G>A	X.37:g.153037013G>A	ENSP00000355378:p.Cys807Tyr					PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.1_Missense_Mutation_p.C489Y|PLXNB3_uc010nuk.2_Missense_Mutation_p.C830Y|PLXNB3_uc011mzd.1_Missense_Mutation_p.C446Y|PLXNB3_uc004fij.1_5'Flank	p.C807Y	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN			14	2594	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		807			Extracellular (Potential).		B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	c.2420G>A	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675504	0.67928	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538282	T;T;T;D	0.90261	3.29;3.27;2.7;-2.64	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.95532	0.8548	M	0.84585	2.705	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;0.999	D	0.96210	0.9152	10	0.87932	D	0	.	14.9334	0.70935	0.0:0.0:1.0:0.0	.	460;489;830;807	B7Z3H9;B7Z9A5;F5H773;Q9ULL4	.;.;.;PLXB3_HUMAN	Y	830;807;460;417	ENSP00000442736:C830Y;ENSP00000355378:C807Y;ENSP00000445569:C460Y;ENSP00000441919:C417Y	ENSP00000355378:C807Y	C	+	2	0	PLXNB3	152690207	1.000000	0.71417	0.922000	0.36590	0.317000	0.28152	7.480000	0.81109	2.111000	0.64477	0.529000	0.55759	TGC		0.672	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1				29	0	0	0	0	0.008361	0	29	0		
FAM43B	163933	broad.mit.edu	37	1	20880268	20880270	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:20880268_20880270delGAG	ENST00000332947.4	+	1	1337_1339	c.802_804delGAG	c.(802-804)gagdel	p.E272del		NM_207334.2	NP_997217.1	Q6ZT52	FA43B_HUMAN	family with sequence similarity 43, member B	272										large_intestine(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00979)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.000399)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)		ggaggaggacgaggaggaggagg	0.744																																						uc001bdj.2		NaN																	0					0						c.(802-804)GAGdel		family with sequence similarity 43, member B				121,39,3262		29,0,63,5,29,1585						-0.4	1.0			5	4,54,6868		0,0,4,2,50,3407	no	codingComplex	FAM43B	NM_207334.2		29,0,67,7,79,4992	A1A1,A1A2,A1R,A2A2,A2R,RR		0.8374,4.6756,2.1067				125,93,10130				SO:0001651	inframe_deletion	163933							g.chr1:20880268_20880270delGAG	AK126900	CCDS209.1	1p36.12	2014-08-14			ENSG00000183114	ENSG00000183114			31791	protein-coding gene	gene with protein product						21461611	Standard	NM_207334		Approved	FLJ44952	uc001bdj.3	Q6ZT52	OTTHUMG00000057491	ENST00000332947.4:c.802_804delGAG	1.37:g.20880277_20880279delGAG	ENSP00000331397:p.Glu272del						p.E272del	NM_207334	NP_997217	Q6ZT52	FA43B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.000399)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)	1	1337_1339	+		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00979)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	272					A5PKT8|A5PL01	In_Frame_Del	DEL	ENST00000332947.4	37	c.802_804delGAG	CCDS209.1																																																																																				0.744	FAM43B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127759.1		NM_207334		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
HFE2	148738	broad.mit.edu	37	1	145415369	145415371	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:145415369_145415371delGAG	ENST00000336751.5	+	3	426_428	c.188_190delGAG	c.(187-192)cgagga>cga	p.G69del	HFE2_ENST00000357836.5_5'UTR|HFE2_ENST00000497365.1_Intron|HFE2_ENST00000475797.1_Intron	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	69	Poly-Gly.			G -> GG (in Ref. 3; ABC40718). {ECO:0000305}.	axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|iron ion homeostasis (GO:0055072)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGAGCACTTCGAGGAGGAGGAGG	0.626																																						uc001eni.2		NaN																	0				ovary(1)	1						c.(187-192)CGAGGA>CGA		hemojuvelin isoform a precursor			,,,	49,31,4178		2,0,45,10,11,2061					,,,	2.7	0.0			51	5,73,8160		0,0,5,23,27,4064	no	codingComplex,intron,intron,utr-5	HFE2	NM_213653.3,NM_213652.3,NM_202004.3,NM_145277.4	,,,	2,0,50,33,38,6125	A1A1,A1A2,A1R,A2A2,A2R,RR		0.9468,1.8788,1.2644	,,,	,,,		54,104,12338				SO:0001651	inframe_deletion	148738				axon guidance	anchored to membrane		g.chr1:145415369_145415371delGAG	AY372521	CCDS72877.1, CCDS72878.1, CCDS72879.1	1q21.2	2014-06-26			ENSG00000168509	ENSG00000168509			4887	protein-coding gene	gene with protein product	"""repulsive guidance molecule c"""	608374				10205270, 14647275	Standard	NM_213653		Approved	JH, HFE2A, RGMC, HJV, hemojuvelin, haemojuvelin	uc001eni.2	Q6ZVN8	OTTHUMG00000013748	ENST00000336751.5:c.188_190delGAG	1.37:g.145415378_145415380delGAG	ENSP00000337014:p.Gly69del					NBPF10_uc001emp.3_Intron|HFE2_uc001enj.2_Intron|HFE2_uc001enk.2_5'UTR|HFE2_uc001enl.2_Intron	p.G69del	NM_213653	NP_998818	Q6ZVN8	RGMC_HUMAN			3	513_515	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		69	G -> GG (in Ref. 3; ABC40718).		Poly-Gly.		B1ALI7|Q2PQ63|Q6IMF6|Q8NAH2|Q8WVJ5	In_Frame_Del	DEL	ENST00000336751.5	37	c.188_190delGAG	CCDS910.1																																																																																				0.626	HFE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038527.1		NM_145277		7	161	NaN	NaN	NaN	NaN	NaN	7	161	---	---
EPS8L2	64787	broad.mit.edu	37	11	722404	722404	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr11:722404delG	ENST00000533256.1	+	14	1438	c.1063delG	c.(1063-1065)gtcfs	p.V355fs	EPS8L2_ENST00000318562.8_Frame_Shift_Del_p.V355fs|EPS8L2_ENST00000530636.1_Frame_Shift_Del_p.V355fs|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000526198.1_Frame_Shift_Del_p.V371fs			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	355					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	actin binding (GO:0003779)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCCCAGATCGTCAACACCTG	0.657																																						uc001lqt.2		NaN																	0				pancreas(1)	1						c.(1063-1065)GTCfs		epidermal growth factor receptor pathway							82.0	72.0	76.0					11																	722404		2203	4300	6503	SO:0001589	frameshift_variant	64787					cytoplasm		g.chr11:722404delG	AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106			21296	protein-coding gene	gene with protein product		614988				12620401	Standard	NM_022772		Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.1063delG	11.37:g.722404delG	ENSP00000435585:p.Val355fs					EPS8L2_uc001lqu.2_Frame_Shift_Del_p.V355fs|EPS8L2_uc010qwk.1_Frame_Shift_Del_p.V371fs|EPS8L2_uc001lqv.2_Frame_Shift_Del_p.V310fs|EPS8L2_uc001lqw.2_5'UTR|EPS8L2_uc001lqx.2_5'UTR|EPS8L2_uc001lqy.2_5'Flank	p.V355fs	NM_022772	NP_073609	Q9H6S3	ES8L2_HUMAN		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)	13	1310	+		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	355					B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	Frame_Shift_Del	DEL	ENST00000533256.1	37	c.1063delG	CCDS31328.1																																																																																				0.657	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382344.1		NM_022772		47	6	NaN	NaN	NaN	NaN	NaN	47	6	---	---
EXOC3L4	91828	broad.mit.edu	37	14	103566640	103566640	+	Frame_Shift_Del	DEL	C	C	-	rs372725381		TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr14:103566640delC	ENST00000380069.3	+	1	160	c.84delC	c.(82-84)ggcfs	p.G28fs	RP11-736N17.8_ENST00000559843.1_RNA	NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	28					exocytosis (GO:0006887)	exocyst (GO:0000145)				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						CAGCTCAGGGCTCCCGGCGAA	0.657																																						uc001ymk.2		NaN																	0					0						c.(82-84)GGCfs		hypothetical protein LOC91828							20.0	22.0	21.0					14																	103566640		2200	4294	6494	SO:0001589	frameshift_variant	91828							g.chr14:103566640delC	AK000671	CCDS32163.1	14q32.32	2011-01-31	2011-01-31	2011-01-31	ENSG00000205436	ENSG00000205436			20120	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 73"""	C14orf73			Standard	NM_001077594		Approved		uc001ymk.3	Q17RC7		ENST00000380069.3:c.84delC	14.37:g.103566640delC	ENSP00000369409:p.Gly28fs						p.G28fs	NM_001077594	NP_001071062	Q17RC7	EX3L4_HUMAN	Epithelial(46;0.221)		1	160	+		Melanoma(154;0.155)	28					Q14CR2	Frame_Shift_Del	DEL	ENST00000380069.3	37	c.84delC	CCDS32163.1																																																																																				0.657	EXOC3L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415663.1		XM_941093		7	15	NaN	NaN	NaN	NaN	NaN	7	15	---	---
PKD1L2	114780	broad.mit.edu	37	16	81232364	81232364	+	RNA	DEL	C	C	-			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr16:81232364delC	ENST00000525539.1	-	0	1445				PKD1L2_ENST00000337114.4_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						CCTCAAAGGTCAGCTCTTCCG	0.562																																						uc002fgh.1		NaN																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1444-1446)CTGfs		polycystin 1-like 2 isoform a							77.0	79.0	78.0					16																	81232364		2019	4161	6180			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81232364delC	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.81232364delC						PKD1L2_uc002fgj.2_Frame_Shift_Del_p.L482fs	p.L482fs	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			7	1446	-			482			REJ.|Extracellular (Potential).		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Frame_Shift_Del	DEL	ENST00000525539.1	37	c.1446delG																																																																																					0.562	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2				65	61	NaN	NaN	NaN	NaN	NaN	65	61	---	---
QTRT1	81890	broad.mit.edu	37	19	10822952	10822953	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:10822952_10822953insC	ENST00000250237.5	+	6	772_773	c.762_763insC	c.(763-765)cccfs	p.P255fs		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	255					queuosine biosynthetic process (GO:0008616)|tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|queuine tRNA-ribosyltransferase activity (GO:0008479)			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			CGAAGGACAAGCCCCGATATCT	0.639																																						uc002mpr.2		NaN																	0				skin(1)	1						c.(760-765)AAGCCCfs		queuine tRNA-ribosyltransferase 1																																				SO:0001589	frameshift_variant	81890				queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity	g.chr19:10822952_10822953insC	AF302783	CCDS12248.1	19p13.3	2014-06-11	2008-07-31		ENSG00000213339	ENSG00000213339	2.4.2.29		23797	protein-coding gene	gene with protein product	"""tRNA-guanine transglycosylase"""	609615				20354154	Standard	NM_031209		Approved	TGT	uc002mpr.3	Q9BXR0		ENST00000250237.5:c.766dupC	19.37:g.10822956_10822956dupC	ENSP00000250237:p.Pro255fs					DNM2_uc010dxk.2_5'Flank	p.K254fs	NM_031209	NP_112486	Q9BXR0	TGT_HUMAN	Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)		6	787_788	+			254_255					B4DFM7|Q96BQ4|Q9BXQ9	Frame_Shift_Ins	INS	ENST00000250237.5	37	c.762_763insC	CCDS12248.1																																																																																				0.639	QTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452086.1		NM_031209		39	318	NaN	NaN	NaN	NaN	NaN	39	318	---	---
CILP2	148113	broad.mit.edu	37	19	19650559	19650559	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:19650559delC	ENST00000291495.5	+	2	221	c.136delC	c.(136-138)cccfs	p.P46fs	CILP2_ENST00000586018.1_Frame_Shift_Del_p.P46fs	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	46						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CACCGGCCAGCCCTCACCAGC	0.667																																						uc002nmv.3		NaN																	0				ovary(1)	1						c.(136-138)CCCfs		cartilage intermediate layer protein 2							73.0	72.0	72.0					19																	19650559		2203	4300	6503	SO:0001589	frameshift_variant	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19650559delC	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.136delC	19.37:g.19650559delC	ENSP00000291495:p.Pro46fs					CILP2_uc002nmw.3_Frame_Shift_Del_p.P46fs	p.P46fs	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN			2	221	+			46					Q6NV88|Q8N4A6|Q8WV21	Frame_Shift_Del	DEL	ENST00000291495.5	37	c.136delC	CCDS12405.1																																																																																				0.667	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3		NM_153221		72	104	NaN	NaN	NaN	NaN	NaN	72	104	---	---
TPRX1	284355	broad.mit.edu	37	19	48305975	48305975	+	Frame_Shift_Del	DEL	G	G	-	rs535076712		TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:48305975delG	ENST00000322175.3	-	2	448	c.293delC	c.(292-294)ccgfs	p.P98fs	TPRX1_ENST00000543508.1_Frame_Shift_Del_p.P98fs|TPRX1_ENST00000535759.1_Frame_Shift_Del_p.P195fs	NM_198479.2	NP_940881.2	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	98	Gly-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		ggcagggATCGGGCCAGGGCC	0.687																																					Esophageal Squamous(123;175 2281 3051 32395)	uc002php.1		NaN																	0					0						c.(292-294)CCGfs		tetra-peptide repeat homeobox							14.0	14.0	14.0					19																	48305975		2192	4293	6485	SO:0001589	frameshift_variant	284355					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:48305975delG		CCDS33066.1	19q13.33	2011-07-08			ENSG00000178928	ENSG00000178928		"""Homeoboxes / PRD class"""	32174	protein-coding gene	gene with protein product		611166					Standard	XM_005258788		Approved	FLJ40321	uc002php.2	Q8N7U7		ENST00000322175.3:c.293delC	19.37:g.48305975delG	ENSP00000323455:p.Pro98fs						p.P98fs	NM_198479	NP_940881	Q8N7U7	TPRX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)	2	364	-		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)	98			Gly-rich.		A5D8Y3|B2RPL5	Frame_Shift_Del	DEL	ENST00000322175.3	37	c.293delC	CCDS33066.1																																																																																				0.687	TPRX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409868.1		NM_198479		4	4	NaN	NaN	NaN	NaN	NaN	4	4	---	---
PPFIA3	8541	broad.mit.edu	37	19	49649253	49649253	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:49649253delG	ENST00000334186.4	+	22	3148	c.2799delG	c.(2797-2799)acgfs	p.T934fs	PPFIA3_ENST00000602351.1_Frame_Shift_Del_p.T934fs	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	934					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		TTACGGCCACGACCAAGCCCG	0.642											OREG0025618	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002pmr.2		NaN																	0				lung(1)	1						c.(2797-2799)ACGfs		PTPRF interacting protein alpha 3							82.0	76.0	78.0					19																	49649253		2203	4300	6503	SO:0001589	frameshift_variant	8541					cell surface|cytoplasm	protein binding	g.chr19:49649253delG	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.2799delG	19.37:g.49649253delG	ENSP00000335614:p.Thr934fs		OREG0025618	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	963	PPFIA3_uc010yai.1_RNA|PPFIA3_uc002pms.2_Frame_Shift_Del_p.T801fs|PPFIA3_uc002pmt.2_Frame_Shift_Del_p.T81fs|PPFIA3_uc002pmu.1_5'Flank	p.T933fs	NM_003660	NP_003651	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	22	3131	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	933					A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Frame_Shift_Del	DEL	ENST00000334186.4	37	c.2799delG	CCDS12758.1																																																																																				0.642	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1		NM_003660		50	54	NaN	NaN	NaN	NaN	NaN	50	54	---	---
SIGLEC8	27181	broad.mit.edu	37	19	51961617	51961619	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:51961617_51961619delGCA	ENST00000321424.3	-	1	89_91	c.23_25delTGC	c.(22-27)ctgccc>ccc	p.L8del	SIGLEC8_ENST00000340550.5_In_Frame_Del_p.L8del|SIGLEC8_ENST00000597352.1_5'Flank|SIGLEC8_ENST00000430817.1_In_Frame_Del_p.L8del	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	8					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CAGagcaggggcagcagcagcag	0.596																																						uc002pwt.2		NaN																	0				ovary(2)|kidney(1)|central_nervous_system(1)|skin(1)	5						c.(22-27)CTGCCC>CCC		sialic acid binding Ig-like lectin 8 precursor																																				SO:0001651	inframe_deletion	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51961617_51961619delGCA	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.23_25delTGC	19.37:g.51961626_51961628delGCA	ENSP00000321077:p.Leu8del					SIGLEC8_uc010yda.1_In_Frame_Del_p.L8del|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_In_Frame_Del_p.L8del	p.L8del	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	1	90_92	-		all_neural(266;0.0199)	8					Q7Z728	In_Frame_Del	DEL	ENST00000321424.3	37	c.23_25delTGC	CCDS33086.1																																																																																				0.596	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2		NM_014442		7	100	NaN	NaN	NaN	NaN	NaN	7	100	---	---
TRIB3	57761	broad.mit.edu	37	20	377174	377174	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr20:377174delC	ENST00000217233.3	+	4	1470	c.917delC	c.(916-918)gccfs	p.A306fs	TRIB3_ENST00000422053.2_Frame_Shift_Del_p.A333fs	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	306	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of protein binding (GO:0032092)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|regulation of glucose transport (GO:0010827)|regulation of MAP kinase activity (GO:0043405)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|transcription corepressor activity (GO:0003714)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase regulator activity (GO:0055106)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		CGGCTCACAGCCACAGGCATC	0.687																																					Melanoma(101;421 2374 19538)	uc002wdm.2		NaN																	0				central_nervous_system(2)	2						c.(916-918)GCCfs		tribbles 3							47.0	45.0	46.0					20																	377174		2196	4293	6489	SO:0001589	frameshift_variant	57761				apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr20:377174delC	AF250311	CCDS12997.1	20p13-p12.2	2013-10-03	2013-10-03	2004-05-04	ENSG00000101255	ENSG00000101255			16228	protein-coding gene	gene with protein product		607898	"""chromosome 20 open reading frame 97"", ""tribbles homolog 3 (Drosophila)"""	C20orf97		12791994, 16715410	Standard	XM_005260773		Approved	dJ1103G7.3, TRB3	uc002wdm.3	Q96RU7	OTTHUMG00000031627	ENST00000217233.3:c.917delC	20.37:g.377174delC	ENSP00000217233:p.Ala306fs					TRIB3_uc002wdn.2_Frame_Shift_Del_p.A333fs	p.A306fs	NM_021158	NP_066981	Q96RU7	TRIB3_HUMAN		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)	4	1423	+		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)	306			Protein kinase.		Q53GU4|Q53ZW7|Q6I9Y9|Q8TAI6|Q9H5M8|Q9NUD2	Frame_Shift_Del	DEL	ENST00000217233.3	37	c.917delC	CCDS12997.1																																																																																				0.687	TRIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077441.2		NM_021158		45	197	NaN	NaN	NaN	NaN	NaN	45	197	---	---
SPTLC3	55304	broad.mit.edu	37	20	13134777	13134777	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr20:13134777delT	ENST00000399002.2	+	10	1681	c.1407delT	c.(1405-1407)ggtfs	p.G469fs	SPTLC3_ENST00000378194.4_3'UTR	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	469					small molecule metabolic process (GO:0044281)|sphingoid biosynthetic process (GO:0046520)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						ATATGCCTGGTAAAGTAGCGT	0.408																																						uc002wod.1		NaN																	0					0						c.(1405-1407)GGTfs		serine palmitoyltransferase, long chain base	Pyridoxal Phosphate(DB00114)						141.0	129.0	133.0					20																	13134777		1926	4143	6069	SO:0001589	frameshift_variant	55304				sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr20:13134777delT	AL109983	CCDS13115.2	20p12.1	2011-07-05	2006-12-21	2006-12-21	ENSG00000172296	ENSG00000172296	2.3.1.50		16253	protein-coding gene	gene with protein product		611120	"""chromosome 20 open reading frame 38"", ""serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)"""	C20orf38, SPTLC2L		17023427	Standard	NM_018327		Approved	LCB2B, FLJ11112, hLCB2b	uc002wod.1	Q9NUV7	OTTHUMG00000031899	ENST00000399002.2:c.1407delT	20.37:g.13134777delT	ENSP00000381968:p.Gly469fs						p.G469fs	NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN			10	1696	+			469					A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	Frame_Shift_Del	DEL	ENST00000399002.2	37	c.1407delT	CCDS13115.2																																																																																				0.408	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254544.1		NM_018327		32	87	NaN	NaN	NaN	NaN	NaN	32	87	---	---
ZNFX1	57169	broad.mit.edu	37	20	47864087	47864088	+	In_Frame_Ins	INS	-	-	GGC			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr20:47864087_47864088insGGC	ENST00000396105.1	-	14	5719_5720	c.5473_5474insGCC	c.(5473-5475)ctg>cGCCtg	p.1824_1825insR	ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_In_Frame_Ins_p.1824_1825insR|ZNFX1_ENST00000469991.1_5'Flank	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1824							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TGAGATGCCCAGGCCAGAGCAG	0.495																																						uc002xui.2		NaN																	0				ovary(2)	2						c.(5473-5475)CTG>CGCCTG		zinc finger, NFX1-type containing 1																																				SO:0001652	inframe_insertion	57169						metal ion binding	g.chr20:47864087_47864088insGGC	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.5471_5473dupGCC	20.37:g.47864088_47864090dupGGC	ENSP00000379412:p.Gly1824_Leu1825insArg						p.1824_1825insR	NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		14	5720_5721	-			1824_1825					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	In_Frame_Ins	INS	ENST00000396105.1	37	c.5473_5474insGCC	CCDS13417.1																																																																																				0.495	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2		NM_021035		42	147	NaN	NaN	NaN	NaN	NaN	42	147	---	---
PPARG	5468	broad.mit.edu	37	3	12422901	12422902	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr3:12422901_12422902insC	ENST00000287820.6	+	3	512_513	c.391_392insC	c.(391-393)tccfs	p.S131fs	PPARG_ENST00000397000.1_Frame_Shift_Ins_p.S103fs|PPARG_ENST00000397012.2_Frame_Shift_Ins_p.S103fs|PPARG_ENST00000397015.2_Frame_Shift_Ins_p.S103fs|PPARG_ENST00000397026.2_Frame_Shift_Ins_p.S109fs|PPARG_ENST00000309576.6_Frame_Shift_Ins_p.S103fs|PPARG_ENST00000539812.1_Frame_Shift_Ins_p.S101fs|PPARG_ENST00000397010.2_Frame_Shift_Ins_p.S103fs	NM_015869.4	NP_056953.2	P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	131					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|brown fat cell differentiation (GO:0050873)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|cellular response to lithium ion (GO:0071285)|epithelial cell differentiation (GO:0030855)|fatty acid oxidation (GO:0019395)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|innate immune response (GO:0045087)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|lipoprotein transport (GO:0042953)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle receptor biosynthetic process (GO:0045713)|monocyte differentiation (GO:0030224)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of cell growth (GO:0030308)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ regeneration (GO:0031100)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|placenta development (GO:0001890)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood pressure (GO:0008217)|regulation of cholesterol transporter activity (GO:0060694)|regulation of transcription involved in cell fate commitment (GO:0060850)|response to caffeine (GO:0031000)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to lipid (GO:0033993)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|arachidonic acid binding (GO:0050544)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|prostaglandin receptor activity (GO:0004955)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region DNA binding (GO:0001012)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Balsalazide(DB01014)|Bezafibrate(DB01393)|Glipizide(DB01067)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Mesalazine(DB00244)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rosiglitazone(DB00412)|Sulfasalazine(DB00795)|Telmisartan(DB00966)	TGAAGAGCCTTCCAACTCCCTC	0.426			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""																															uc003bwx.2		NaN		Dom	yes		3	3p25	5468	T	"""peroxisome proliferative activated receptor, gamma"""	yes	Insulin resistance ; lipodystrophy|familial partial L;diabetes mellitus|insulin-resistantI|with acanthosis nigricans and hypertension	E	PAX8		follicular thyroid		0				ovary(1)|kidney(1)	2						c.(391-393)TCCfs		peroxisome proliferative activated receptor	Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)																																			SO:0001589	frameshift_variant	5468				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr3:12422901_12422902insC	X90563	CCDS2609.1, CCDS2610.2	3p25	2013-01-16	2006-10-17		ENSG00000132170	ENSG00000132170		"""Nuclear hormone receptors"""	9236	protein-coding gene	gene with protein product		601487	"""peroxisome proliferative activated receptor, gamma"""			7862171, 9750197	Standard	NM_005037		Approved	PPARG1, PPARG2, NR1C3, PPARgamma	uc003bwx.3	P37231	OTTHUMG00000129764	ENST00000287820.6:c.393dupC	3.37:g.12422903_12422903dupC	ENSP00000287820:p.Ser131fs					PPARG_uc003bwr.2_Frame_Shift_Ins_p.S103fs|PPARG_uc003bws.2_Frame_Shift_Ins_p.S103fs|PPARG_uc003bwu.2_Frame_Shift_Ins_p.S103fs|PPARG_uc003bwv.2_Frame_Shift_Ins_p.S103fs|PPARG_uc010hea.1_RNA|PPARG_uc003bwq.1_Frame_Shift_Ins_p.S103fs|PPARG_uc003bwt.1_Frame_Shift_Ins_p.S103fs|PPARG_uc003bww.1_Frame_Shift_Ins_p.S131fs	p.S131fs	NM_015869	NP_056953	P37231	PPARG_HUMAN			3	482_483	+			131					A8K3G6|B5BUA1|O00684|O00710|O14515|Q0QJH8|Q15178|Q15179|Q15180|Q15832|Q86U60|Q96J12	Frame_Shift_Ins	INS	ENST00000287820.6	37	c.391_392insC	CCDS2609.1																																																																																				0.426	PPARG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251979.2		NM_005037		15	72	NaN	NaN	NaN	NaN	NaN	15	72	---	---
NOP14	8602	broad.mit.edu	37	4	2941321	2941327	+	Frame_Shift_Del	DEL	GGCAGAG	GGCAGAG	-	rs138901812|rs149423815	byFrequency	TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr4:2941321_2941327delGGCAGAG	ENST00000314262.6	-	16	2293_2299	c.2245_2251delCTCTGCC	c.(2245-2253)ctctgccggfs	p.LCR749fs	NOP14_ENST00000398071.4_Frame_Shift_Del_p.LCR749fs|NOP14-AS1_ENST00000507999.1_RNA|NOP14-AS1_ENST00000505731.1_RNA|NOP14-AS1_ENST00000515194.1_RNA|NOP14-AS1_ENST00000512712.2_RNA|NOP14_ENST00000502735.1_Frame_Shift_Del_p.LCR749fs|NOP14-AS1_ENST00000507702.1_RNA|NOP14_ENST00000416614.2_Frame_Shift_Del_p.LCR749fs|NOP14-AS1_ENST00000503709.1_RNA|NOP14-AS1_ENST00000512802.1_RNA|NOP14_ENST00000507120.1_5'UTR	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	749					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						GTCAGCGGCCGGCAGAGCTGCTTCTGG	0.589																																						uc003ggj.1		NaN																	0				pancreas(1)	1						c.(2245-2253)CTCTGCCGGfs		probable nucleolar complex protein 14																																				SO:0001589	frameshift_variant	8602				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding	g.chr4:2941321_2941327delGGCAGAG	AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"""NOP14 homolog (S. cerevisiae)"""	611526	"""chromosome 4 open reading frame 9"", ""nucleolar protein 14"", ""nucleolar protein 14 homolog (yeast)"", ""NOP14 nucleolar protein homolog (yeast)"""	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.2245_2251delCTCTGCC	4.37:g.2941321_2941327delGGCAGAG	ENSP00000315674:p.Leu749fs					C4orf10_uc003ggd.1_Intron|C4orf10_uc003gge.1_Intron|C4orf10_uc003ggg.1_Intron|C4orf10_uc003ggh.2_Intron|C4orf10_uc003ggi.1_Intron|NOP14_uc010icp.2_Intron|NOP14_uc003ggk.3_Frame_Shift_Del_p.L749fs|NOP14_uc003ggl.2_Frame_Shift_Del_p.L749fs	p.L749fs	NM_003703	NP_003694	P78316	NOP14_HUMAN			16	2317_2323	-			749_751					D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Frame_Shift_Del	DEL	ENST00000314262.6	37	c.2245_2251delCTCTGCC	CCDS33945.1																																																																																				0.589	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358135.2		NM_003703		17	49	NaN	NaN	NaN	NaN	NaN	17	49	---	---
HIST1H2BB	3018	broad.mit.edu	37	6	26043564	26043564	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr6:26043564delC	ENST00000357905.2	-	1	321	c.322delG	c.(322-324)gctfs	p.A108fs	HIST1H3C_ENST00000540144.1_5'Flank	NM_021062.2	NP_066406.1	P33778	H2B1B_HUMAN	histone cluster 1, H2bb	108					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						GCATGCTTAGCCAGCTCCCCA	0.552																																						uc003nfu.2		NaN																	0					0						c.(322-324)GCTfs		histone cluster 1, H2bb							46.0	46.0	46.0					6																	26043564		2203	4300	6503	SO:0001589	frameshift_variant	3018				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26043564delC	AF531285	CCDS4575.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196226			"""Histones / Replication-dependent"""	4751	protein-coding gene	gene with protein product		602803	"""H2B histone family, member F"", ""histone 1, H2bb"""	H2BFF		8227173, 12408966	Standard	NM_021062		Approved	H2B/f	uc003nfu.3	P33778	OTTHUMG00000014421	ENST00000357905.2:c.322delG	6.37:g.26043564delC	ENSP00000350580:p.Ala108fs					HIST1H3C_uc003nfv.2_5'Flank	p.A108fs	NM_021062	NP_066406	P33778	H2B1B_HUMAN			1	322	-			108					Q4KN36	Frame_Shift_Del	DEL	ENST00000357905.2	37	c.322delG	CCDS4575.1																																																																																				0.552	HIST1H2BB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040083.1		NM_021062		49	53	NaN	NaN	NaN	NaN	NaN	49	53	---	---
RGL2	5863	broad.mit.edu	37	6	33262770	33262771	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr6:33262770_33262771insA	ENST00000497454.1	-	10	1756_1757	c.1261_1262insT	c.(1261-1263)tctfs	p.S421fs	RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000444031.2_Frame_Shift_Ins_p.S339fs	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	421	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						CCGGGAGCCAGACCTCGGGGCC	0.589																																						uc003odv.2		NaN																	0				skin(3)|lung(1)|breast(1)|pancreas(1)	6						c.(1261-1263)TCTfs		ral guanine nucleotide dissociation																																				SO:0001589	frameshift_variant	5863				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr6:33262770_33262771insA		CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"""RAB2, member RAS oncogene family-like"""	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.1262dupT	6.37:g.33262771_33262771dupA	ENSP00000420211:p.Ser421fs					RGL2_uc003odu.2_5'UTR|RGL2_uc010jur.2_5'UTR|RGL2_uc003odw.2_Frame_Shift_Ins_p.S339fs|RGL2_uc011drb.1_Frame_Shift_Ins_p.S339fs	p.S421fs	NM_004761	NP_004752	O15211	RGL2_HUMAN			10	1394_1395	-			421			Ras-GEF.		B4DG72|Q5STK0|Q9Y3F3	Frame_Shift_Ins	INS	ENST00000497454.1	37	c.1261_1262insT	CCDS4774.1																																																																																				0.589	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076098.2				8	5	NaN	NaN	NaN	NaN	NaN	8	5	---	---
ADCY1	107	broad.mit.edu	37	7	45725689	45725689	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr7:45725689delC	ENST00000297323.7	+	13	2224	c.2202delC	c.(2200-2202)tgcfs	p.C734fs		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	734					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)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|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)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|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)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TGCTCTGCTGCCTGGTGGGCA	0.622																																						uc003tne.3		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(2200-2202)TGCfs		adenylate cyclase 1	Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						66.0	52.0	57.0					7																	45725689		2203	4300	6503	SO:0001589	frameshift_variant	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45725689delC	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.2202delC	7.37:g.45725689delC	ENSP00000297323:p.Cys734fs						p.C734fs	NM_021116	NP_066939	Q08828	ADCY1_HUMAN			13	2220	+			734			Helical; (Potential).		A4D2L8|Q75MI1	Frame_Shift_Del	DEL	ENST00000297323.7	37	c.2202delC	CCDS34631.1																																																																																				0.622	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2		NM_021116		37	56	NaN	NaN	NaN	NaN	NaN	37	56	---	---
PCMTD1	115294	broad.mit.edu	37	8	52733063	52733063	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr8:52733063delT	ENST00000360540.5	-	7	1328	c.922delA	c.(922-924)atgfs	p.M308fs	PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Frame_Shift_Del_p.M308fs|PCMTD1_ENST00000544451.1_Frame_Shift_Del_p.M232fs	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	308						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				tcctcttccattttttcatcc	0.373																																						uc003xqx.3		NaN																	0					0						c.(922-924)ATGfs		protein-L-isoaspartate (D-aspartate)							102.0	88.0	92.0					8																	52733063		2203	4300	6503	SO:0001589	frameshift_variant	115294					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr8:52733063delT		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.922delA	8.37:g.52733063delT	ENSP00000353739:p.Met308fs					PCMTD1_uc011ldm.1_Frame_Shift_Del_p.M178fs|PCMTD1_uc003xqw.3_Frame_Shift_Del_p.M308fs|PCMTD1_uc011ldn.1_Frame_Shift_Del_p.M120fs|PCMTD1_uc010lya.2_Frame_Shift_Del_p.M232fs	p.M308fs	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN			6	1263	-		Lung NSC(129;0.0795)|all_lung(136;0.144)	308					Q96FK9	Frame_Shift_Del	DEL	ENST00000360540.5	37	c.922delA	CCDS6148.1																																																																																				0.373	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2		NM_052937		8	132	NaN	NaN	NaN	NaN	NaN	8	132	---	---
KDM6A	7403	broad.mit.edu	37	X	44918557	44918558	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08			-	G	-	-		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chrX:44918557_44918558insG	ENST00000377967.4	+	12	1081_1082	c.1040_1041insG	c.(1039-1044)ttggacfs	p.D348fs	KDM6A_ENST00000536777.1_Frame_Shift_Ins_p.D348fs|KDM6A_ENST00000543216.1_Frame_Shift_Ins_p.D348fs|KDM6A_ENST00000382899.4_Frame_Shift_Ins_p.D348fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	348	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GCTGTACAATTGGACCATGGCC	0.431			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	uc004dge.3		NaN		Rec	yes		X	Xp11.2	7403	D|N|F|S	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			renal|oesophageal SCC|MM		8	Whole gene deletion(6)|No detectable mRNA/protein(2)		haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|breast(2)|pancreas(2)	kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						c.(1039-1041)TTGfs		ubiquitously transcribed tetratricopeptide																																				SO:0001589	frameshift_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44918557_44918558insG	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.1042dupG	X.37:g.44918559_44918559dupG	ENSP00000367203:p.Asp348fs					KDM6A_uc010nhk.2_Frame_Shift_Ins_p.L347fs|KDM6A_uc011mkz.1_Frame_Shift_Ins_p.L347fs|KDM6A_uc011mla.1_Frame_Shift_Ins_p.L347fs|KDM6A_uc011mlb.1_Frame_Shift_Ins_p.L347fs|KDM6A_uc011mlc.1_Frame_Shift_Ins_p.L96fs|KDM6A_uc011mld.1_Frame_Shift_Ins_p.L13fs	p.L347fs	NM_021140	NP_066963	O15550	KDM6A_HUMAN			12	1415_1416	+			347			TPR 7.		Q52LL9|Q5JVQ7	Frame_Shift_Ins	INS	ENST00000377967.4	37	c.1040_1041insG	CCDS14265.1																																																																																				0.431	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1		NM_021140		39	9	NaN	NaN	NaN	NaN	NaN	39	9	---	---
STAG2	10735	broad.mit.edu	37	X	123184129	123184130	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08			AA	-	AA	AA		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chrX:123184129_123184130delAA	ENST00000371160.1	+	11	1277_1278	c.987_988delAA	c.(985-990)ttaaaafs	p.K330fs	STAG2_ENST00000218089.9_Frame_Shift_Del_p.K330fs|STAG2_ENST00000371157.3_Frame_Shift_Del_p.K330fs|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Frame_Shift_Del_p.K330fs|STAG2_ENST00000354548.5_Frame_Shift_Del_p.K261fs|STAG2_ENST00000371145.3_Frame_Shift_Del_p.K330fs	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	330	SCD. {ECO:0000255|PROSITE- ProRule:PRU00750}.				meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						ACAGTTATTTAAAATATGTTGG	0.401																																						uc004etz.3		NaN																	0				ovary(4)|skin(1)	5						c.(985-990)TTAAAAfs		stromal antigen 2 isoform b																																				SO:0001589	frameshift_variant	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123184129_123184130delAA	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.987_988delAA	X.37:g.123184131_123184132delAA	ENSP00000360202:p.Lys330fs					STAG2_uc004eua.2_Frame_Shift_Del_p.L329fs|STAG2_uc004eub.2_Frame_Shift_Del_p.L329fs|STAG2_uc004euc.2_Frame_Shift_Del_p.L329fs|STAG2_uc004eud.2_Frame_Shift_Del_p.L329fs|STAG2_uc004eue.2_Frame_Shift_Del_p.L329fs	p.L329fs	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN			10	1326_1327	+			329_330			SCD.		B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Frame_Shift_Del	DEL	ENST00000371160.1	37	c.987_988delAA	CCDS14607.1																																																																																				0.401	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2		NM_006603		141	18	NaN	NaN	NaN	NaN	NaN	141	18	---	---
