#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ARHGAP5	394	broad.mit.edu	37	14	32563530	32563530	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr14:32563530G>A	ENST00000345122.3	+	2	3970	c.3655G>A	c.(3655-3657)Gac>Aac	p.D1219N	ARHGAP5_ENST00000556611.1_Missense_Mutation_p.D1219N|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.D1219N|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.D1219N|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1219					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AATCACTTCTGACCAGGAGTT	0.353																																					NSCLC(9;77 350 3443 29227 41353)	ENST00000345122.3																			0				NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55						c.(3655-3657)Gac>Aac		Rho GTPase activating protein 5							97.0	101.0	100.0					14																	32563530		2203	4300	6503	SO:0001583	missense	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32563530G>A	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.3655G>A	14.37:g.32563530G>A	ENSP00000371897:p.Asp1219Asn					ARHGAP5_ENST00000556611.1_Missense_Mutation_p.D1219N|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.D1219N|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.D1219N|ARHGAP5_ENST00000396582.2_Intron	p.D1219N	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	2	3970	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		1219					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	37	c.3655G>A	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.441374	0.43326	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.08984	3.03;3.03;3.03;3.03	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.10337	0.0253	N	0.24115	0.695	0.80722	D	1	B;B	0.29508	0.246;0.159	B;B	0.37780	0.258;0.131	T	0.31752	-0.9932	10	0.38643	T	0.18	.	19.013	0.92881	0.0:0.0:1.0:0.0	.	1219;1219	Q13017-2;Q13017	.;RHG05_HUMAN	N	1219	ENSP00000452222:D1219N;ENSP00000441692:D1219N;ENSP00000371897:D1219N;ENSP00000393307:D1219N	ENSP00000216743:D74N	D	+	1	0	ARHGAP5	31633281	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.527000	0.98044	2.555000	0.86185	0.563000	0.77884	GAC		0.353	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		16	94	0	0	0	0.004007	0	16	94				
BMS1P20	96610	broad.mit.edu	37	22	22663086	22663086	+	RNA	SNP	T	T	G	rs1054157|rs71318762	byFrequency	TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr22:22663086T>G	ENST00000426066.1	+	0	525					NR_027293.1				BMS1 pseudogene 20																		AGCTGCCACATAAGTTGTCCT	0.299													.|||	3161	0.63119	0.9652	0.4726	5008	,	,		9186	0.4077		0.5219	False		,,,				2504	0.635					ENST00000426066.1																			0																																																			96610							g.chr22:22663086T>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22663086T>G								NR_027293.1						0	525	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.299	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	35	0	0	0	0.000248	0	4	35				
IGKC	3514	broad.mit.edu	37	2	89156960	89156960	+	RNA	SNP	C	C	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr2:89156960C>T	ENST00000390237.2	-	0	236				AC096579.13_ENST00000452230.1_RNA|AC096579.7_ENST00000430694.1_RNA			P01834	IGKC_HUMAN	immunoglobulin kappa constant						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										TTGTGTTTCTCGTAGTCTGCT	0.572																																						ENST00000452230.1																			0																				104.0	102.0	103.0					2																	89156960		2142	4251	6393			0							g.chr2:89156960C>T	J00241		2p11.2	2013-01-14			ENSG00000211592	ENSG00000211592		"""Immunoglobulins / IGK locus"""	5716	other	immunoglobulin gene		147200				10354514	Standard	NG_000834		Approved	HCAK1		P01834	OTTHUMG00000151684		2.37:g.89156960C>T						AC096579.7_ENST00000430694.1_RNA|IGKC_ENST00000390237.2_RNA								0	39	-									RNA	SNP	ENST00000390237.2	37																																																																																						0.572	IGKC-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000323482.1	NG_000834		9	63	0	0	0	0.004482	0	9	63				
LRRC7	57554	broad.mit.edu	37	1	70502126	70502126	+	Splice_Site	SNP	G	G	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr1:70502126G>T	ENST00000035383.5	+	18	2023		c.e18-1		LRRC7_ENST00000310961.5_Splice_Site|LRRC7_ENST00000415775.2_Intron	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7							cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TTAAATTTCAGAATCAACTGA	0.393																																						ENST00000310961.5																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.e21-1		leucine rich repeat containing 7							64.0	65.0	64.0					1																	70502126		2203	4300	6503	SO:0001630	splice_region_variant	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70502126G>T		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.1994-1G>T	1.37:g.70502126G>T						LRRC7_ENST00000415775.2_Intron|LRRC7_ENST00000035383.5_Splice_Site				Q96NW7	LRRC7_HUMAN			21	2426	+								Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Splice_Site	SNP	ENST00000035383.5	37		CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.539646	0.85917	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.848	0.96722	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LRRC7	70274714	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.468000	0.97676	2.937000	0.99478	0.650000	0.86243	.		0.393	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794	Intron	13	30	1	0	0.000151284	0.001855	0.000273215	13	30				
SHISA3	152573	broad.mit.edu	37	4	42403311	42403311	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr4:42403311G>T	ENST00000319234.4	+	2	778	c.560G>T	c.(559-561)tGc>tTc	p.C187F		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	187					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						GAGCCGGGCTGCCTGGTGCCC	0.662																																						ENST00000319234.4																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						c.(559-561)tGc>tTc		shisa family member 3							44.0	44.0	44.0					4																	42403311		2203	4300	6503	SO:0001583	missense	152573				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane		g.chr4:42403311G>T	BC012029	CCDS33979.1	4p13	2013-07-31	2013-07-31		ENSG00000178343	ENSG00000178343		"""Shisa homologs"""	25159	protein-coding gene	gene with protein product			"""shisa homolog 3 (Xenopus laevis)"""				Standard	NM_001080505		Approved	hShisa3	uc003gwp.3	A0PJX4	OTTHUMG00000161043	ENST00000319234.4:c.560G>T	4.37:g.42403311G>T	ENSP00000326445:p.Cys187Phe						p.C187F	NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN			2	778	+			187					A0PJX3|Q96EQ5	Missense_Mutation	SNP	ENST00000319234.4	37	c.560G>T	CCDS33979.1	.	.	.	.	.	.	.	.	.	.	G	9.972	1.225867	0.22542	.	.	ENSG00000178343	ENST00000319234	T	0.41758	0.99	5.15	5.15	0.70609	.	0.278684	0.37219	N	0.002200	T	0.31104	0.0786	L	0.39898	1.24	0.46542	D	0.999099	B	0.34181	0.44	B	0.33690	0.168	T	0.04781	-1.0927	10	0.10636	T	0.68	-3.0758	11.8467	0.52389	0.0803:0.0:0.9197:0.0	.	187	A0PJX4	SHSA3_HUMAN	F	187	ENSP00000326445:C187F	ENSP00000326445:C187F	C	+	2	0	SHISA3	42098068	1.000000	0.71417	0.996000	0.52242	0.048000	0.14542	4.833000	0.62766	2.692000	0.91855	0.655000	0.94253	TGC		0.662	SHISA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363539.1	NM_001080505		9	30	1	0	3.86212e-05	0.008291	7.08055e-05	9	30				
DDX60	55601	broad.mit.edu	37	4	169215016	169215016	+	Silent	SNP	G	G	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr4:169215016G>A	ENST00000393743.3	-	7	1095	c.804C>T	c.(802-804)tgC>tgT	p.C268C		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	268					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AAGATAATGAGCATGAAGTAA	0.413																																						ENST00000393743.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63						c.(802-804)tgC>tgT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							118.0	118.0	118.0					4																	169215016		2203	4300	6503	SO:0001819	synonymous_variant	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169215016G>A	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.804C>T	4.37:g.169215016G>A							p.C268C	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	7	1095	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	268					Q6PK35|Q9NVE3	Silent	SNP	ENST00000393743.3	37	c.804C>T	CCDS34097.1																																																																																				0.413	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		14	78	0	0	0	0.003163	0	14	78				
ZSCAN29	146050	broad.mit.edu	37	15	43658483	43658483	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr15:43658483G>T	ENST00000396976.2	-	3	1181	c.1047C>A	c.(1045-1047)caC>caA	p.H349Q	ZSCAN29_ENST00000568898.1_Intron|ZSCAN29_ENST00000562072.1_Missense_Mutation_p.H348Q|ZSCAN29_ENST00000396972.1_Intron	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	349					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		CCAGGCCAGAGTGAGAGGCTG	0.597																																						ENST00000396976.2																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24						c.(1045-1047)caC>caA		zinc finger and SCAN domain containing 29							55.0	54.0	54.0					15																	43658483		2201	4299	6500	SO:0001583	missense	146050				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:43658483G>T	AF525399	CCDS10095.2	15q15.3	2013-01-08	2007-03-08	2007-03-08	ENSG00000140265	ENSG00000140265		"""-"", ""Zinc fingers, C2H2-type"""	26673	protein-coding gene	gene with protein product			"""zinc finger protein 690"""	ZNF690		12434312	Standard	NM_152455		Approved	FLJ35867, Zfp690	uc001zrk.1	Q8IWY8	OTTHUMG00000130767	ENST00000396976.2:c.1047C>A	15.37:g.43658483G>T	ENSP00000380174:p.His349Gln					ZSCAN29_ENST00000396972.1_Intron|ZSCAN29_ENST00000568898.1_Intron|ZSCAN29_ENST00000562072.1_Missense_Mutation_p.H348Q	p.H349Q	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	3	1181	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	349					B3KVB9|Q32M75|Q32M76|Q8NA40	Missense_Mutation	SNP	ENST00000396976.2	37	c.1047C>A	CCDS10095.2	.	.	.	.	.	.	.	.	.	.	G	2.762	-0.257530	0.05791	.	.	ENSG00000140265	ENST00000396976	T	0.06768	3.26	5.24	0.519	0.17035	.	0.288428	0.30483	N	0.009533	T	0.09202	0.0227	M	0.63428	1.95	0.09310	N	0.999996	B;B;B	0.32245	0.294;0.257;0.361	B;B;B	0.31495	0.131;0.074;0.05	T	0.15723	-1.0427	10	0.56958	D	0.05	-1.8446	8.6351	0.33943	0.3716:0.0:0.6284:0.0	.	348;349;349	C9K0J8;Q8IWY8-3;Q8IWY8	.;.;ZSC29_HUMAN	Q	349	ENSP00000380174:H349Q	ENSP00000380174:H349Q	H	-	3	2	ZSCAN29	41445775	0.000000	0.05858	0.047000	0.18901	0.059000	0.15707	-0.163000	0.09997	-0.067000	0.12976	0.655000	0.94253	CAC		0.597	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253278.1	NM_152455		14	39	1	0	3.27435e-08	0.002450	6.23932e-08	14	39				
ANTXR1	84168	broad.mit.edu	37	2	69302734	69302734	+	Nonsense_Mutation	SNP	C	C	T	rs397514700		TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr2:69302734C>T	ENST00000303714.4	+	7	827	c.505C>T	c.(505-507)Cga>Tga	p.R169*	ANTXR1_ENST00000409829.3_Nonsense_Mutation_p.R169*|ANTXR1_ENST00000409349.3_Nonsense_Mutation_p.R169*	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	169	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TAATAGGTCTCGAGATCTTGG	0.418									Familial Infantile Hemangioma																													ENST00000303714.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(505-507)Cga>Tga		anthrax toxin receptor 1							287.0	263.0	271.0					2																	69302734		2203	4300	6503	SO:0001587	stop_gained	84168	Familial Infantile Hemangioma	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	g.chr2:69302734C>T	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"""anthrax toxin receptor"", ""tumor endothelial marker 8 precursor"""	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.505C>T	2.37:g.69302734C>T	ENSP00000301945:p.Arg169*					ANTXR1_ENST00000409829.3_Nonsense_Mutation_p.R169*|ANTXR1_ENST00000409349.3_Nonsense_Mutation_p.R169*	p.R169*	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN			7	827	+			169			VWFA.		A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Nonsense_Mutation	SNP	ENST00000303714.4	37	c.505C>T	CCDS1892.1	.	.	.	.	.	.	.	.	.	.	C	42	9.262692	0.99118	.	.	ENSG00000169604	ENST00000303714;ENST00000409829;ENST00000409349	.	.	.	5.76	4.87	0.63330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.3527	13.8007	0.63199	0.1543:0.8457:0.0:0.0	.	.	.	.	X	169	.	ENSP00000301945:R169X	R	+	1	2	ANTXR1	69156238	0.687000	0.27671	1.000000	0.80357	0.950000	0.60333	1.204000	0.32296	1.389000	0.46526	0.557000	0.71058	CGA		0.418	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251770.2	NM_032208		20	151	0	0	0	0.001523	0	20	151				
SNRPD2	6633	broad.mit.edu	37	19	46190835	46190835	+	Silent	SNP	C	C	G			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr19:46190835C>G	ENST00000342669.3	-	3	777	c.333G>C	c.(331-333)cgG>cgC	p.R111R	SNRPD2_ENST00000590212.1_3'UTR|SNRPD2_ENST00000588301.1_Silent_p.R111R|SNRPD2_ENST00000587367.1_Silent_p.R101R|SNRPD2_ENST00000391932.3_Silent_p.R101R|SNRPD2_ENST00000585392.1_Silent_p.R47R|SNRPD2_ENST00000588599.1_Silent_p.R101R	NM_004597.5	NP_004588.1	P62316	SMD2_HUMAN	small nuclear ribonucleoprotein D2 polypeptide 16.5kDa	111					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|pICln-Sm protein complex (GO:0034715)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)		TGAGCGGGTTCCGCAGGACCA	0.547																																						ENST00000342669.3																			0				breast(1)|large_intestine(1)|lung(2)	4						c.(331-333)cgG>cgC		small nuclear ribonucleoprotein D2 polypeptide 16.5kDa							94.0	80.0	85.0					19																	46190835		2203	4300	6503	SO:0001819	synonymous_variant	6633				ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	protein binding	g.chr19:46190835C>G		CCDS33053.1, CCDS54281.1	19q13.2-q13.3	2011-10-11	2002-08-29		ENSG00000125743	ENSG00000125743			11159	protein-coding gene	gene with protein product	"""snRNP core protein D2"""	601061	"""small nuclear ribonucleoprotein D2 polypeptide (16.5kD)"""	SNRPD1		7527560, 1701240	Standard	NM_004597		Approved	Sm-D2	uc002pcw.3	P62316		ENST00000342669.3:c.333G>C	19.37:g.46190835C>G						SNRPD2_ENST00000391932.3_Silent_p.R101R|SNRPD2_ENST00000590212.1_3'UTR|SNRPD2_ENST00000588599.1_Silent_p.R101R|SNRPD2_ENST00000588301.1_Silent_p.R111R|SNRPD2_ENST00000587367.1_Silent_p.R101R|SNRPD2_ENST00000585392.1_Silent_p.R47R	p.R111R	NM_004597.5	NP_004588.1	P62316	SMD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)	3	777	-		Ovarian(192;0.051)|all_neural(266;0.112)	111					A8K797|J3KPM5|P43330	Silent	SNP	ENST00000342669.3	37	c.333G>C	CCDS33053.1																																																																																				0.547	SNRPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459648.1	NM_004597		9	43	0	0	0	0.004482	0	9	43				
RASL10A	10633	broad.mit.edu	37	22	29708004	29708004	+	IGR	SNP	G	G	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr22:29708004G>A	ENST00000216101.6	-	0	1490				GAS2L1_ENST00000406549.3_Intron|GAS2L1_ENST00000341313.6_3'UTR|GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000403764.1_Nonsense_Mutation_p.W521*|RASL10A_ENST00000608559.1_5'Flank|GAS2L1_ENST00000471961.1_Nonsense_Mutation_p.W521*|GAS2L1_ENST00000407647.2_Nonsense_Mutation_p.W521*|GAS2L1_ENST00000407854.1_Nonsense_Mutation_p.W521*	NM_006477.4	NP_006468.1	Q92737	RSLAA_HUMAN	RAS-like, family 10, member A						small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)	1						CCGGCGCCTGGAAGAGGAGTT	0.692																																						ENST00000471961.1																			0				endometrium(2)|lung(2)|prostate(1)	5						c.(1561-1563)tgG>tgA		growth arrest-specific 2 like 1							43.0	56.0	52.0					22																	29708004		2031	4187	6218	SO:0001628	intergenic_variant	10634				cell cycle arrest	cytoplasm|cytoskeleton		g.chr22:29708004G>A	Y07847	CCDS13854.1	22q12.2	2014-05-09			ENSG00000100276	ENSG00000100276			16954	protein-coding gene	gene with protein product		602220				8975699, 15731001	Standard	NM_006477		Approved	RRP22	uc031rxl.1	Q92737	OTTHUMG00000151106		22.37:g.29708004G>A						GAS2L1_ENST00000341313.6_3'UTR|GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000407854.1_Nonsense_Mutation_p.W521*|GAS2L1_ENST00000406549.3_Intron|GAS2L1_ENST00000403764.1_Nonsense_Mutation_p.W521*|GAS2L1_ENST00000407647.2_Nonsense_Mutation_p.W521*	p.W521*			Q99501	GA2L1_HUMAN			5	2611	+			0					Q49AU5|Q6PI03	Nonsense_Mutation	SNP	ENST00000216101.6	37	c.1563G>A	CCDS13854.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.506567|5.506567	0.96386|0.96386	.|.	.|.	ENSG00000185340|ENSG00000185340	ENST00000333679|ENST00000407647;ENST00000403764;ENST00000471961;ENST00000407854	.|.	.|.	.|.	3.68|3.68	3.68|3.68	0.42216|0.42216	.|.	0.000000|.	0.56097|.	U|.	0.000028|.	T|.	0.68723|.	0.3032|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.79108|.	0.992;0.992|.	T|.	0.68830|.	-0.5305|.	8|.	0.54805|.	T|.	0.06|.	-5.8358|-5.8358	14.3316|14.3316	0.66561|0.66561	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	522;522|.	A0A5E8;Q99501|.	.;GA2L1_HUMAN|.	K|X	521|521	.|.	ENSP00000332834:E521K|.	E|W	+|+	1|3	0|0	GAS2L1|GAS2L1	28038004|28038004	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.780000|0.780000	0.44128|0.44128	5.602000|5.602000	0.67612|0.67612	1.890000|1.890000	0.54733|0.54733	0.491000|0.491000	0.48974|0.48974	GAA|TGG		0.692	RASL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321342.1			30	132	0	0	0	0.001786	0	30	132				
PTGES3	10728	broad.mit.edu	37	12	57058264	57058264	+	Nonstop_Mutation	SNP	T	T	G			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr12:57058264T>G	ENST00000262033.6	-	8	782	c.482A>C	c.(481-483)tAa>tCa	p.*161S	PTGES3_ENST00000436399.2_Nonstop_Mutation_p.*128S|PTGES3_ENST00000537473.1_5'UTR|PTGES3_ENST00000448157.2_Nonstop_Mutation_p.*140S|PTGES3_ENST00000414274.3_Nonstop_Mutation_p.*131S|PTGES3_ENST00000456859.2_Nonstop_Mutation_p.*125S	NM_006601.5	NP_006592.3	Q15185	TEBP_HUMAN	prostaglandin E synthase 3 (cytosolic)	0					arachidonic acid metabolic process (GO:0019369)|cell proliferation (GO:0008283)|chaperone cofactor-dependent protein refolding (GO:0070389)|cyclooxygenase pathway (GO:0019371)|glucocorticoid receptor signaling pathway (GO:0042921)|glycogen biosynthetic process (GO:0005978)|lung saccule development (GO:0060430)|prostaglandin biosynthetic process (GO:0001516)|RNA-dependent DNA replication (GO:0006278)|signal transduction (GO:0007165)|skin development (GO:0043588)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	prostaglandin-E synthase activity (GO:0050220)|telomerase activity (GO:0003720)|unfolded protein binding (GO:0051082)			large_intestine(1)|lung(1)	2						CAATATTCCTTACTCCAGATC	0.308																																						ENST00000262033.6																			0				large_intestine(1)|lung(1)	2						c.(481-483)tAa>tCa		prostaglandin E synthase 3 (cytosolic)							51.0	57.0	55.0					12																	57058264		2196	4291	6487	SO:0001578	stop_lost	10728				chaperone cofactor-dependent protein refolding|hormone biosynthetic process|prostaglandin biosynthetic process|signal transduction|telomere maintenance	cytosol|telomerase holoenzyme complex	prostaglandin-E synthase activity|telomerase activity|unfolded protein binding	g.chr12:57058264T>G	BC003005	CCDS31836.1, CCDS61158.1, CCDS61159.1, CCDS61160.1, CCDS73485.1	12q13.13	2012-03-14			ENSG00000110958	ENSG00000110958			16049	protein-coding gene	gene with protein product		607061				8114727, 12077419	Standard	XR_245889		Approved	p23, TEBP, cPGES	uc001slu.4	Q15185	OTTHUMG00000170217	ENST00000262033.6:c.482A>C	12.37:g.57058264T>G						PTGES3_ENST00000537473.1_5'UTR|PTGES3_ENST00000414274.3_Nonstop_Mutation_p.*131S|PTGES3_ENST00000456859.2_Nonstop_Mutation_p.*125S|PTGES3_ENST00000448157.2_Nonstop_Mutation_p.*140S|PTGES3_ENST00000436399.2_Nonstop_Mutation_p.*128S	p.*161S	NM_006601.5	NP_006592.3	Q15185	TEBP_HUMAN			8	782	-			0					A8K7D0|B4DHP2|B4DP11|B4DP21|Q8WU70	Nonstop_Mutation	SNP	ENST00000262033.6	37	c.482A>C	CCDS31836.1	.	.	.	.	.	.	.	.	.	.	T	13.38	2.220954	0.39201	.	.	ENSG00000110958	ENST00000262033;ENST00000414274;ENST00000436399;ENST00000448157;ENST00000456859	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8969	0.58104	0.0:0.0:0.0:1.0	.	.	.	.	S	161;131;128;140;125	.	.	X	-	2	2	PTGES3	55344531	1.000000	0.71417	0.994000	0.49952	0.964000	0.63967	5.260000	0.65490	2.048000	0.60808	0.454000	0.30748	TAA		0.308	PTGES3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408054.1	NM_006601		15	57	0	0	0	0.004990	0	15	57				
ZNF630	57232	broad.mit.edu	37	X	47919827	47919827	+	Splice_Site	SNP	A	A	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chrX:47919827A>T	ENST00000409324.3	-	4	465		c.e4+1		ZNF630_ENST00000276054.4_Splice_Site|ZNF630_ENST00000442455.3_Splice_Site|ZNF630-AS1_ENST00000436124.1_RNA	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630						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)			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						ATTCTCACTTACCTGGGTAGA	0.428																																						ENST00000276054.4																			0				endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						c.e4+1		zinc finger protein 630							168.0	131.0	143.0					X																	47919827		1558	3574	5132	SO:0001630	splice_region_variant	57232				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47919827A>T	AK000580	CCDS35237.2, CCDS75971.1	Xp11.3-p11.1	2013-01-08			ENSG00000221994	ENSG00000221994		"""Zinc fingers, C2H2-type"", ""-"""	28855	protein-coding gene	gene with protein product		300819					Standard	NM_001037735		Approved	BC037316, dJ54B20.2, FLJ20573, MGC138344	uc004div.4	Q2M218	OTTHUMG00000021463	ENST00000409324.3:c.238+1T>A	X.37:g.47919827A>T						ZNF630_ENST00000409324.3_Splice_Site|ZNF630_ENST00000442455.3_Splice_Site|ZNF630-AS1_ENST00000436124.1_RNA				Q2M218	ZN630_HUMAN			4	805	-								F8WAG4|Q5H8Z5	Splice_Site	SNP	ENST00000409324.3	37		CCDS35237.2	.	.	.	.	.	.	.	.	.	.	A	8.454	0.853747	0.17106	.	.	ENSG00000221994	ENST00000442455;ENST00000409324;ENST00000428686	.	.	.	2.13	2.13	0.27403	.	.	.	.	.	.	.	.	.	.	.	0.22866	N	0.998638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.6396	0.17557	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF630	47804771	0.042000	0.20092	0.078000	0.20375	0.169000	0.22640	0.794000	0.26958	1.111000	0.41721	0.381000	0.24937	.		0.428	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327254.1	NM_001037735	Intron	10	81	0	0	0	0.000978	0	10	81				
FCRL2	79368	broad.mit.edu	37	1	157737023	157737023	+	Nonsense_Mutation	SNP	G	G	C			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr1:157737023G>C	ENST00000361516.3	-	6	1208	c.1160C>G	c.(1159-1161)tCa>tGa	p.S387*	FCRL2_ENST00000392274.3_Nonsense_Mutation_p.S387*|FCRL2_ENST00000469986.1_Nonsense_Mutation_p.S134*|FCRL2_ENST00000368181.4_Intron	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	387	Ig-like C2-type 4.				cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCACCCACCTGAGATGGAGAC	0.542																																						ENST00000361516.3																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51						c.(1159-1161)tCa>tGa		Fc receptor-like 2							51.0	53.0	52.0					1																	157737023		2203	4300	6503	SO:0001587	stop_gained	79368				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity	g.chr1:157737023G>C	AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14875	protein-coding gene	gene with protein product		606509	"""SH2 domain-containing phosphatase anchor protein 1"""	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.1160C>G	1.37:g.157737023G>C	ENSP00000355157:p.Ser387*					FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000469986.1_Nonsense_Mutation_p.S134*|FCRL2_ENST00000392274.3_Nonsense_Mutation_p.S387*	p.S387*	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		6	1208	-	all_hematologic(112;0.0378)		387			Ig-like C2-type 4.		A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Nonsense_Mutation	SNP	ENST00000361516.3	37	c.1160C>G	CCDS1168.1	.	.	.	.	.	.	.	.	.	.	G	35	5.563810	0.96527	.	.	ENSG00000132704	ENST00000361516;ENST00000392274;ENST00000469986	.	.	.	4.29	2.3	0.28687	.	1.428700	0.05398	N	0.540199	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	5.1366	0.14937	0.1098:0.0:0.6874:0.2028	.	.	.	.	X	387;387;134	.	ENSP00000355157:S387X	S	-	2	0	FCRL2	156003647	0.258000	0.24033	0.351000	0.25721	0.598000	0.36846	0.593000	0.23999	1.008000	0.39264	0.591000	0.81541	TCA		0.542	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051408.2	NM_030764		13	71	0	0	0	0.001855	0	13	71				
ABCA12	26154	broad.mit.edu	37	2	215914369	215914369	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr2:215914369A>G	ENST00000272895.7	-	6	893	c.674T>C	c.(673-675)cTa>cCa	p.L225P		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	225					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTGTTTGTTTAGTTCTTGGAG	0.388																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(673-675)cTa>cCa		ATP-binding cassette, sub-family A (ABC1), member 12							78.0	76.0	77.0					2																	215914369		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215914369A>G	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.674T>C	2.37:g.215914369A>G	ENSP00000272895:p.Leu225Pro						p.L225P	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	6	893	-		Renal(323;0.127)	225					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.674T>C	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	A	17.83	3.485587	0.63962	.	.	ENSG00000144452	ENST00000272895	D	0.91068	-2.78	5.75	5.75	0.90469	.	0.124427	0.36374	N	0.002621	D	0.85022	0.5602	N	0.24115	0.695	0.80722	D	1	P	0.44195	0.828	B	0.40782	0.34	D	0.87319	0.2317	10	0.87932	D	0	.	13.874	0.63643	1.0:0.0:0.0:0.0	.	225	Q86UK0	ABCAC_HUMAN	P	225	ENSP00000272895:L225P	ENSP00000272895:L225P	L	-	2	0	ABCA12	215622614	1.000000	0.71417	0.995000	0.50966	0.912000	0.54170	4.964000	0.63701	2.323000	0.78572	0.533000	0.62120	CTA		0.388	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		7	36	0	0	0	0.003080	0	7	36				
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	lincRNA	SNP	C	C	G	rs199933143		TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr1:142713773C>G	ENST00000610091.1	-	0	1885																											TCTTTTTCCACATTGTCATTT	0.284																																						ENST00000369381.2																			0																																																			101927209							g.chr1:142713773C>G																													1.37:g.142713773C>G														0	832	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			3	81	0	0	0	0.000248	0	3	81				
KAT5	10524	broad.mit.edu	37	11	65481258	65481258	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr11:65481258G>A	ENST00000377046.3	+	7	802	c.530G>A	c.(529-531)cGt>cAt	p.R177H	KAT5_ENST00000530446.1_Missense_Mutation_p.R158H|KAT5_ENST00000534650.1_5'UTR|KAT5_ENST00000352980.4_Missense_Mutation_p.R125H|KAT5_ENST00000341318.4_Missense_Mutation_p.R210H	NM_006388.3	NP_006379.2	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	177					androgen receptor signaling pathway (GO:0030521)|cellular response to estradiol stimulus (GO:0071392)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|double-strand break repair (GO:0006302)|histone acetylation (GO:0016573)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of growth (GO:0040008)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|repressing transcription factor binding (GO:0070491)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						GGAGCCGCCCGTAGGGCAGTG	0.532																																						ENST00000341318.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						c.(628-630)cGt>cAt		K(lysine) acetyltransferase 5							28.0	26.0	26.0					11																	65481258		2200	4296	6496	SO:0001583	missense	10524				androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity	g.chr11:65481258G>A	U74667	CCDS8109.1, CCDS8110.1, CCDS31610.1, CCDS55771.1	11q13	2013-01-10	2008-07-04	2008-07-04	ENSG00000172977	ENSG00000172977		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	5275	protein-coding gene	gene with protein product	"""Tat interacting protein, 60kDa"", ""K-acetyltransferase 5"""	601409	"""HIV-1 Tat interactive protein, 60kDa"""	HTATIP		8607265	Standard	NM_006388		Approved	TIP60, PLIP, cPLA2, HTATIP1, ESA1, ZC2HC5	uc001ofk.3	Q92993	OTTHUMG00000166617	ENST00000377046.3:c.530G>A	11.37:g.65481258G>A	ENSP00000366245:p.Arg177His					KAT5_ENST00000534650.1_5'UTR|KAT5_ENST00000530446.1_Missense_Mutation_p.R158H|KAT5_ENST00000352980.4_Missense_Mutation_p.R125H|KAT5_ENST00000377046.3_Missense_Mutation_p.R177H	p.R210H	NM_182710.2	NP_874369.1	Q92993	KAT5_HUMAN			6	863	+			177					B4E3C7|C9JL99|O95624|Q13430|Q17RW5|Q561W3|Q6GSE8|Q9BWK7	Missense_Mutation	SNP	ENST00000377046.3	37	c.629G>A	CCDS31610.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.815345	0.50527	.	.	ENSG00000172977	ENST00000377046;ENST00000352980;ENST00000341318;ENST00000530446;ENST00000528198;ENST00000531880	T;T;T;T;T;T	0.49139	0.87;0.92;0.86;0.92;0.86;0.79	5.28	5.28	0.74379	.	0.204055	0.42821	D	0.000642	T	0.51719	0.1691	L	0.52573	1.65	0.80722	D	1	P;B;D;B	0.61697	0.902;0.117;0.99;0.071	B;B;P;B	0.48982	0.264;0.017;0.597;0.008	T	0.52563	-0.8559	10	0.46703	T	0.11	-8.359	16.395	0.83601	0.0:0.0:1.0:0.0	.	158;210;125;177	B4E3C7;Q92993-3;Q92993-2;Q92993	.;.;.;KAT5_HUMAN	H	177;125;210;158;119;171	ENSP00000366245:R177H;ENSP00000344955:R125H;ENSP00000340330:R210H;ENSP00000434765:R158H;ENSP00000436000:R119H;ENSP00000436012:R171H	ENSP00000340330:R210H	R	+	2	0	KAT5	65237834	1.000000	0.71417	0.998000	0.56505	0.912000	0.54170	6.816000	0.75247	2.472000	0.83506	0.561000	0.74099	CGT		0.532	KAT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390866.2	NM_006388		4	16	0	0	0	0.000248	0	4	16				
ASAP1	50807	broad.mit.edu	37	8	131127878	131127878	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr8:131127878T>A	ENST00000518721.1	-	23	2395	c.2168A>T	c.(2167-2169)gAc>gTc	p.D723V	ASAP1_ENST00000357668.1_Missense_Mutation_p.D723V	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	723					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						ACTCACTTTGTCATCCAGATC	0.413																																						ENST00000357668.1																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						c.(2167-2169)gAc>gTc		ArfGAP with SH3 domain, ankyrin repeat and PH domain 1							308.0	260.0	276.0					8																	131127878		2203	4300	6503	SO:0001583	missense	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131127878T>A	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.2168A>T	8.37:g.131127878T>A	ENSP00000429900:p.Asp723Val					ASAP1_ENST00000518721.1_Missense_Mutation_p.D723V	p.D723V			Q9ULH1	ASAP1_HUMAN			22	2195	-			723					B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	c.2168A>T	CCDS6362.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.1|21.1	4.091317|4.091317	0.76756|0.76756	.|.	.|.	ENSG00000153317|ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721|ENST00000524124;ENST00000519483	T;T|.	0.09073|.	3.02;3.02|.	5.17|5.17	5.17|5.17	0.71159|0.71159	.|.	0.344609|.	0.33144|.	N|.	0.005229|.	T|.	0.70622|.	0.3245|.	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	P;P;P|.	0.46142|.	0.651;0.651;0.873|.	B;B;P|.	0.44990|.	0.216;0.216;0.466|.	T|.	0.70128|.	-0.4957|.	10|.	0.87932|.	D|.	0|.	.|.	14.4898|14.4898	0.67642|0.67642	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	723;723;726|.	B2RNV3;Q9ULH1;Q9ULH1-2|.	.;ASAP1_HUMAN;.|.	V|C	726;723;723|543;136	ENSP00000350297:D723V;ENSP00000429900:D723V|.	ENSP00000344591:D726V|.	D|X	-|-	2|3	0|0	ASAP1|ASAP1	131197060|131197060	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	7.948000|7.948000	0.87774|0.87774	2.087000|2.087000	0.62958|0.62958	0.528000|0.528000	0.53228|0.53228	GAC|TGA		0.413	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		71	233	0	0	0	0.003610	0	71	233				
BHLHE23	128408	broad.mit.edu	37	20	61637638	61637638	+	Silent	SNP	G	G	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr20:61637638G>A	ENST00000370346.2	-	1	749	c.441C>T	c.(439-441)gcC>gcT	p.A147A		NM_080606.3	NP_542173	Q8NDY6	BHE23_HUMAN	basic helix-loop-helix family, member e23	147	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)	1						TATAGTTCTTGGCGAGCAGCA	0.677																																						ENST00000370346.2																			0				NS(1)	1						c.(439-441)gcC>gcT		basic helix-loop-helix family, member e23							27.0	26.0	26.0					20																	61637638		2201	4295	6496	SO:0001819	synonymous_variant	128408				transcription, DNA-dependent	nucleus	DNA binding	g.chr20:61637638G>A	AL121673	CCDS33507.1, CCDS33507.2	20q13.33	2009-01-12	2009-01-12	2009-01-12	ENSG00000125533	ENSG00000125533		"""Basic helix-loop-helix proteins"""	16093	protein-coding gene	gene with protein product		609331	"""basic helix-loop-helix domain containing, class B, 4"""	BHLHB4		11863370, 18557763	Standard	NM_080606		Approved	bA305P22.3, Beta4, bHLHe23	uc002yeb.2	Q8NDY6	OTTHUMG00000032948	ENST00000370346.2:c.441C>T	20.37:g.61637638G>A							p.A147A	NM_080606.3	NP_542173.1	Q8NDY6	BHE23_HUMAN			1	749	-			147			Helix-loop-helix motif.		B2RP69	Silent	SNP	ENST00000370346.2	37	c.441C>T	CCDS33507.1																																																																																				0.677	BHLHE23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080095.2	NM_080606		6	28	0	0	0	0.001984	0	6	28				
ART3	419	broad.mit.edu	37	4	77003501	77003501	+	Silent	SNP	C	C	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr4:77003501C>T	ENST00000355810.4	+	3	713	c.594C>T	c.(592-594)ctC>ctT	p.L198L	ART3_ENST00000349321.3_Silent_p.L198L|ART3_ENST00000513494.1_3'UTR|ART3_ENST00000341029.5_Silent_p.L198L	NM_001130016.2	NP_001123488.1	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3	198					protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ATGACCAGCTCACTGTGTTAT	0.408																																						ENST00000355810.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16						c.(592-594)ctC>ctT		ADP-ribosyltransferase 3							47.0	45.0	46.0					4																	77003501		2203	4300	6503	SO:0001819	synonymous_variant	419				protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity	g.chr4:77003501C>T	X95827	CCDS3575.1, CCDS47079.1, CCDS47080.1	4q21.1	2008-05-15			ENSG00000156219	ENSG00000156219			725	protein-coding gene	gene with protein product		603086				9119374	Standard	NM_001130017		Approved		uc003hjo.3	Q13508	OTTHUMG00000130110	ENST00000355810.4:c.594C>T	4.37:g.77003501C>T						ART3_ENST00000349321.3_Silent_p.L198L|ART3_ENST00000341029.5_Silent_p.L198L|ART3_ENST00000513494.1_3'UTR	p.L198L	NM_001130016.2	NP_001123488.1	Q13508	NAR3_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		3	713	+			198					Q53XW3|Q6FHT7|Q8WVJ7|Q93069|Q96HL1	Silent	SNP	ENST00000355810.4	37	c.594C>T	CCDS47079.1																																																																																				0.408	ART3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252416.2	NM_001179		13	38	0	0	0	0.001368	0	13	38				
MON1A	84315	broad.mit.edu	37	3	49947692	49947692	+	Silent	SNP	G	G	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr3:49947692G>A	ENST00000417270.1	-	5	1956	c.1263C>T	c.(1261-1263)ttC>ttT	p.F421F	MON1A_ENST00000296473.3_Silent_p.F510F|MON1A_ENST00000483022.1_5'Flank|CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000455683.2_Silent_p.F348F			Q86VX9	MON1A_HUMAN	MON1 secretory trafficking family member A	413										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GGCGCTCCTGGAAGCGGCGGC	0.627																																						ENST00000417270.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13						c.(1261-1263)ttC>ttT		MON1 secretory trafficking family member A							42.0	41.0	41.0					3																	49947692		2203	4300	6503	SO:0001819	synonymous_variant	84315						protein binding	g.chr3:49947692G>A	AK074404	CCDS2808.2, CCDS46830.1	3p21.31	2013-08-21	2013-08-21		ENSG00000164077	ENSG00000164077			28207	protein-coding gene	gene with protein product		611464	"""MON1 homolog A (yeast)"""			12477932	Standard	NM_032355		Approved	MGC13272, SAND1	uc003cxz.3	Q86VX9	OTTHUMG00000156737	ENST00000417270.1:c.1263C>T	3.37:g.49947692G>A						CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000296473.3_Silent_p.F510F|MON1A_ENST00000455683.2_Silent_p.F348F	p.F421F			Q86VX9	MON1A_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	5	1956	-			413					B2RDQ1|G5E9N1|Q8NAV7|Q9BRF3	Silent	SNP	ENST00000417270.1	37	c.1263C>T																																																																																					0.627	MON1A-005	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000345538.2	NM_032355		13	39	0	0	0	0.001368	0	13	39				
TDRD1	56165	broad.mit.edu	37	10	115987042	115987042	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr10:115987042G>C	ENST00000251864.2	+	23	3540	c.3387G>C	c.(3385-3387)caG>caC	p.Q1129H	TDRD1_ENST00000422662.1_Intron|TDRD1_ENST00000369280.1_Intron|TDRD1_ENST00000369281.2_Missense_Mutation_p.Q1015H|TDRD1_ENST00000369282.1_Intron	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	1129					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		CTCAAAGGCAGAGTGCTTTAA	0.358																																						ENST00000251864.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48						c.(3385-3387)caG>caC		tudor domain containing 1							150.0	147.0	148.0					10																	115987042		2203	4300	6503	SO:0001583	missense	56165				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	g.chr10:115987042G>C	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000251864.2:c.3387G>C	10.37:g.115987042G>C	ENSP00000251864:p.Gln1129His					TDRD1_ENST00000369280.1_Intron|TDRD1_ENST00000422662.1_Intron|TDRD1_ENST00000369281.2_Missense_Mutation_p.Q1015H|TDRD1_ENST00000369282.1_Intron	p.Q1129H	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.0754)	23	3540	+		Colorectal(252;0.172)|Breast(234;0.188)	1129					A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	ENST00000251864.2	37	c.3387G>C	CCDS7588.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.582699	0.46006	.	.	ENSG00000095627	ENST00000251864;ENST00000369281	T;T	0.19669	2.89;2.13	5.76	-2.79	0.05841	.	1.099900	0.06836	N	0.794958	T	0.24624	0.0597	L	0.46157	1.445	0.09310	N	1	P;D;D;D	0.59767	0.93;0.976;0.958;0.986	P;P;P;P	0.51355	0.467;0.656;0.667;0.66	T	0.32402	-0.9908	10	0.46703	T	0.11	-0.359	6.9453	0.24516	0.2328:0.3988:0.3684:0.0	.	1129;1015;1129;1015	Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	TDRD1_HUMAN;.;.;.	H	1129;1015	ENSP00000251864:Q1129H;ENSP00000358287:Q1015H	ENSP00000251864:Q1129H	Q	+	3	2	TDRD1	115977032	0.000000	0.05858	0.000000	0.03702	0.176000	0.22953	-0.460000	0.06720	-0.499000	0.06623	-0.312000	0.09012	CAG		0.358	TDRD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				10	42	0	0	0	0.001368	0	10	42				
PCDHGC5	56097	broad.mit.edu	37	5	140871168	140871168	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr5:140871168C>A	ENST00000252087.1	+	1	2361	c.2361C>A	c.(2359-2361)ttC>ttA	p.F787L	PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	787					homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGTGACTTCACTTTTCTAA	0.632																																						ENST00000252087.1																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(2359-2361)ttC>ttA									37.0	39.0	38.0					5																	140871168		2203	4300	6503	SO:0001583	missense	56097				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140871168C>A	AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"""Cadherins / Protocadherins : Clustered"""	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.2361C>A	5.37:g.140871168C>A	ENSP00000252087:p.Phe787Leu					PCDHGA10_ENST00000398610.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.F787L	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2361	+			787					Q9Y5C2	Missense_Mutation	SNP	ENST00000252087.1	37	c.2361C>A	CCDS4263.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.721362	0.48728	.	.	ENSG00000240764	ENST00000252087	T	0.48522	0.81	5.38	5.38	0.77491	.	0.000000	0.49305	D	0.000150	T	0.35335	0.0928	L	0.31207	0.915	0.48288	D	0.999622	B;B	0.16603	0.005;0.018	B;B	0.13407	0.009;0.009	T	0.28170	-1.0052	10	0.02654	T	1	.	19.1126	0.93323	0.0:1.0:0.0:0.0	.	787;787	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	L	787	ENSP00000252087:F787L	ENSP00000252087:F787L	F	+	3	2	PCDHGC5	140851352	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.586000	0.53950	2.529000	0.85273	0.505000	0.49811	TTC		0.632	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251819.1	NM_018929		9	45	1	0	3.07112e-06	0.000978	5.67336e-06	9	45				
FSTL5	56884	broad.mit.edu	37	4	162307346	162307346	+	Silent	SNP	G	G	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr4:162307346G>A	ENST00000306100.5	-	16	2533	c.2097C>T	c.(2095-2097)gtC>gtT	p.V699V	FSTL5_ENST00000536695.1_Silent_p.V698V|FSTL5_ENST00000379164.4_Silent_p.V698V|FSTL5_ENST00000427802.2_Silent_p.V689V|RP11-234O6.2_ENST00000508189.1_RNA	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	699						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)		CATCTGGAGAGACATATGGAG	0.473																																						ENST00000306100.5																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.(2095-2097)gtC>gtT		follistatin-like 5							123.0	113.0	116.0					4																	162307346		2203	4300	6503	SO:0001819	synonymous_variant	56884					extracellular region	calcium ion binding	g.chr4:162307346G>A	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.2097C>T	4.37:g.162307346G>A						FSTL5_ENST00000536695.1_Silent_p.V698V|FSTL5_ENST00000379164.4_Silent_p.V698V|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000427802.2_Silent_p.V689V	p.V699V	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	16	2533	-	all_hematologic(180;0.24)		699					E9PCP6|Q9NSW7|Q9ULF7	Silent	SNP	ENST00000306100.5	37	c.2097C>T	CCDS3802.1																																																																																				0.473	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		13	66	0	0	0	0.001368	0	13	66				
ZNF404	342908	broad.mit.edu	37	19	44376738	44376738	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr19:44376738C>G	ENST00000587539.1	-	3	1627	c.1628G>C	c.(1627-1629)aGa>aCa	p.R543T	ZNF404_ENST00000324394.6_Missense_Mutation_p.R541T	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	543					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)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				ATGGTGAAATCTTTGATGTTG	0.373																																						ENST00000587539.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17						c.(1627-1629)aGa>aCa		zinc finger protein 404							53.0	54.0	54.0					19																	44376738		2057	4225	6282	SO:0001583	missense	342908				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44376738C>G	XM_092027	CCDS59394.1	19q13.31	2013-01-08				ENSG00000176222		"""Zinc fingers, C2H2-type"", ""-"""	19417	protein-coding gene	gene with protein product							Standard	NM_001033719		Approved		uc002oxs.5	Q494X3		ENST00000587539.1:c.1628G>C	19.37:g.44376738C>G	ENSP00000466051:p.Arg543Thr					ZNF404_ENST00000324394.6_Missense_Mutation_p.R541T	p.R543T	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN			3	1627	-		Prostate(69;0.0352)	543					A4FU30|K7ELF2	Missense_Mutation	SNP	ENST00000587539.1	37	c.1628G>C	CCDS59394.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.532334	0.27387	.	.	ENSG00000176222	ENST00000324394	T	0.09723	2.95	2.56	2.56	0.30785	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16896	0.0406	M	0.77712	2.385	0.22412	N	0.999129	P	0.51147	0.942	B	0.43680	0.427	T	0.11966	-1.0566	9	0.66056	D	0.02	.	9.3031	0.37858	0.0:0.7766:0.2233:0.0	.	543	Q494X3	ZN404_HUMAN	T	541	ENSP00000319479:R541T	ENSP00000319479:R541T	R	-	2	0	ZNF404	49068578	0.000000	0.05858	0.921000	0.36526	0.541000	0.35023	0.073000	0.14640	1.415000	0.47037	0.543000	0.68304	AGA		0.373	ZNF404-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460019.1	NM_001033719		5	16	0	0	0	0.000602	0	5	16				
DCHS2	54798	broad.mit.edu	37	4	155157872	155157872	+	Silent	SNP	T	T	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr4:155157872T>A	ENST00000357232.4	-	25	6566	c.6567A>T	c.(6565-6567)ccA>ccT	p.P2189P		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2189	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)		TGGAACTCAATGGAGGGCAGC	0.468																																						ENST00000357232.3																			0				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						c.(6565-6567)ccA>ccT		dachsous cadherin-related 2							57.0	57.0	57.0					4																	155157872		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155157872T>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.6567A>T	4.37:g.155157872T>A							p.P2189P	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	6566	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2189			Cadherin 19.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.6567A>T	CCDS3785.1																																																																																				0.468	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		12	31	0	0	0	0.000978	0	12	31				
GPX2	2877	broad.mit.edu	37	14	65406430	65406430	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr14:65406430C>T	ENST00000389614.5	-	2	435	c.349G>A	c.(349-351)Gcc>Acc	p.A117T	CHURC1-FNTB_ENST00000549987.1_Intron|FNTB_ENST00000542227.1_Intron|FNTB_ENST00000447296.2_Intron	NM_002083.3	NP_002074.2	P18283	GPX2_HUMAN	glutathione peroxidase 2 (gastrointestinal)	117					interaction with symbiont (GO:0051702)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|response to oxidative stress (GO:0006979)|response to symbiotic bacterium (GO:0009609)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|glutathione peroxidase activity (GO:0004602)			large_intestine(2)|ovary(1)|skin(1)	4				all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	Glutathione(DB00143)	TTCAGGTAGGCGAAGACAGGA	0.537																																						ENST00000389614.5																			0				large_intestine(2)|ovary(1)|skin(1)	4						c.(349-351)Gcc>Acc		glutathione peroxidase 2 (gastrointestinal)	Glutathione(DB00143)						95.0	91.0	92.0					14																	65406430		1999	4175	6174	SO:0001583	missense	2877				response to oxidative stress	cytoplasm	electron carrier activity|glutathione peroxidase activity	g.chr14:65406430C>T		CCDS41964.1	14q23.3	2012-05-22			ENSG00000176153	ENSG00000176153	1.11.1.9		4554	protein-coding gene	gene with protein product		138319				8428933, 8287691	Standard	NM_002083		Approved	GSHPX-GI	uc021ruq.2	P18283	OTTHUMG00000171677	ENST00000389614.5:c.349G>A	14.37:g.65406430C>T	ENSP00000374265:p.Ala117Thr					CHURC1-FNTB_ENST00000542227.1_Intron|CHURC1-FNTB_ENST00000447296.2_Intron	p.A117T	NM_002083.3	NP_002074.2	P18283	GPX2_HUMAN		all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	2	435	-			117					Q6PJ52|Q8WWI7|Q9NRP9	Missense_Mutation	SNP	ENST00000389614.5	37	c.349G>A	CCDS41964.1	.	.	.	.	.	.	.	.	.	.	C	8.876	0.950581	0.18431	.	.	ENSG00000176153	ENST00000389614;ENST00000557049	T;T	0.21543	2.0;3.81	6.06	3.1	0.35709	Thioredoxin-like fold (2);	0.071158	0.53938	D	0.000042	T	0.07908	0.0198	N	0.20766	0.605	0.80722	D	1	P	0.35077	0.483	B	0.13407	0.009	T	0.19844	-1.0293	10	0.02654	T	1	-0.5874	8.2412	0.31660	0.1276:0.7332:0.0:0.1392	.	117	P18283	GPX2_HUMAN	T	117;61	ENSP00000374265:A117T;ENSP00000451721:A61T	ENSP00000374265:A117T	A	-	1	0	GPX2	64476183	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.144000	0.42197	0.883000	0.36040	0.655000	0.94253	GCC		0.537	GPX2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000414708.1			14	56	0	0	0	0.003163	0	14	56				
MAP3K6	9064	broad.mit.edu	37	1	27690468	27690468	+	Silent	SNP	G	G	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr1:27690468G>A	ENST00000493901.1	-	6	1043	c.804C>T	c.(802-804)agC>agT	p.S268S	MAP3K6_ENST00000357582.2_Silent_p.S268S|MAP3K6_ENST00000374040.3_Silent_p.S260S	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	268					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GCAGCTCCACGCTGTCCAGTC	0.647																																						ENST00000374040.3																			0				breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10						c.(778-780)agC>agT		mitogen-activated protein kinase kinase kinase 6							43.0	43.0	43.0					1																	27690468		2203	4300	6503	SO:0001819	synonymous_variant	9064				activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity	g.chr1:27690468G>A	AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6858	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 2"""	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.804C>T	1.37:g.27690468G>A						MAP3K6_ENST00000357582.2_Silent_p.S268S|MAP3K6_ENST00000493901.1_Silent_p.S268S	p.S260S			O95382	M3K6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	4	1040	-		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	268					A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Silent	SNP	ENST00000493901.1	37	c.780C>T	CCDS299.1																																																																																				0.647	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013469.2	NM_004672		7	17	0	0	0	0.001984	0	7	17				
CCDC144A	9720	broad.mit.edu	37	17	16612763	16612763	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr17:16612763C>A	ENST00000360524.8	+	5	1468	c.1392C>A	c.(1390-1392)aaC>aaA	p.N464K	CCDC144A_ENST00000340621.5_Missense_Mutation_p.N463K|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.N464K|CCDC144A_ENST00000399273.1_Missense_Mutation_p.N464K|CCDC144A_ENST00000443444.2_Missense_Mutation_p.N464K|CCDC144A_ENST00000456009.1_Intron|RN7SL620P_ENST00000580704.1_RNA	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	464																	GCAGTACAAACAACTATAAAA	0.348																																						ENST00000443444.2																			0											c.(1390-1392)aaC>aaA		coiled-coil domain containing 144A							87.0	70.0	75.0					17																	16612763		1804	4048	5852	SO:0001583	missense	9720							g.chr17:16612763C>A	BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.1392C>A	17.37:g.16612763C>A	ENSP00000353717:p.Asn464Lys					CCDC144A_ENST00000340621.5_Missense_Mutation_p.N463K|CCDC144A_ENST00000360524.8_Missense_Mutation_p.N464K|CCDC144A_ENST00000399273.1_Missense_Mutation_p.N464K|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.N464K|CCDC144A_ENST00000456009.1_Intron	p.N464K			A2RUR9	C144A_HUMAN			5	1532	+			464					O60311|Q6ZU57	Missense_Mutation	SNP	ENST00000360524.8	37	c.1392C>A	CCDS45621.1	.	.	.	.	.	.	.	.	.	.	.	12.88	2.071614	0.36566	.	.	ENSG00000170160	ENST00000340621;ENST00000399273;ENST00000443444;ENST00000448331;ENST00000360524;ENST00000360495	T;T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02;2.02	1.26	-0.184	0.13280	.	.	.	.	.	T	0.10551	0.0258	L	0.27053	0.805	0.53688	D	0.99997	B	0.14438	0.01	B	0.11329	0.006	T	0.41910	-0.9482	8	.	.	.	.	2.2782	0.04107	0.2422:0.1803:0.0:0.5775	.	464	A2RUR9	C144A_HUMAN	K	463;464;464;464;464;464	ENSP00000344740:N463K;ENSP00000382215:N464K;ENSP00000439262:N464K;ENSP00000440655:N464K;ENSP00000353717:N464K;ENSP00000353685:N464K	.	N	+	3	2	CCDC144A	16553488	0.001000	0.12720	0.108000	0.21378	0.153000	0.21895	0.048000	0.14078	-1.565000	0.01676	-1.514000	0.00941	AAC		0.348	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1			5	70	1	0	0.000157383	0.003080	0.000282124	5	70				
FARP1	10160	broad.mit.edu	37	13	99087939	99087939	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr13:99087939C>A	ENST00000319562.6	+	19	2518	c.2253C>A	c.(2251-2253)gaC>gaA	p.D751E	FARP1-AS1_ENST00000432229.1_RNA|FARP1_ENST00000376586.2_Missense_Mutation_p.D751E|FARP1_ENST00000595437.1_Missense_Mutation_p.D751E	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	751					dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TTGGCATTGACAATCTTGTGG	0.507																																						ENST00000376586.2																			0				breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49						c.(2251-2253)gaC>gaA		FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)							135.0	121.0	125.0					13																	99087939		2203	4300	6503	SO:0001583	missense	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:99087939C>A	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.2253C>A	13.37:g.99087939C>A	ENSP00000322926:p.Asp751Glu					FARP1-AS1_ENST00000432229.1_RNA|FARP1_ENST00000595437.1_Missense_Mutation_p.D751E|FARP1_ENST00000319562.6_Missense_Mutation_p.D751E	p.D751E			Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		19	2589	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		751					Q5JVI9|Q6IQ29	Missense_Mutation	SNP	ENST00000319562.6	37	c.2253C>A	CCDS9487.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.22|13.22	2.172572|2.172572	0.38315|0.38315	.|.	.|.	ENSG00000152767|ENSG00000152767	ENST00000376586;ENST00000319562|ENST00000423063	T;T|.	0.63580|.	-0.05;-0.05|.	5.8|5.8	5.8|5.8	0.92144|0.92144	Pleckstrin homology-type (1);|.	0.097281|.	0.64402|.	D|.	0.000001|.	T|T	0.58177|0.58177	0.2104|0.2104	N|N	0.25992|0.25992	0.78|0.78	0.80722|0.80722	D|D	1|1	P;P|.	0.49862|.	0.929;0.865|.	P;P|.	0.51415|.	0.462;0.669|.	T|T	0.50684|0.50684	-0.8799|-0.8799	10|5	0.13853|.	T|.	0.58|.	.|.	20.063|20.063	0.97692|0.97692	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	751;751|.	Q9Y4F1;C9JME2|.	FARP1_HUMAN;.|.	E|K	751|54	ENSP00000365771:D751E;ENSP00000322926:D751E|.	ENSP00000322926:D751E|.	D|T	+|+	3|2	2|0	FARP1|FARP1	97885940|97885940	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.757000|0.757000	0.42996|0.42996	1.393000|1.393000	0.34497|0.34497	2.735000|2.735000	0.93741|0.93741	0.655000|0.655000	0.94253|0.94253	GAC|ACA		0.507	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		31	74	1	0	1.80694e-10	0.001786	3.55512e-10	31	74				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	284802							g.chr20:29628243T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		3	73	0	0	0	0.000248	0	3	73				
HNF4G	3174	broad.mit.edu	37	8	76476246	76476246	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr8:76476246G>T	ENST00000354370.1	+	11	1412	c.1142G>T	c.(1141-1143)gGc>gTc	p.G381V	HNF4G_ENST00000396423.2_Missense_Mutation_p.G418V			Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	381					endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.G381D(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			CCACCACAAGGCTCTGGGCAA	0.448																																						ENST00000396423.2																			1	Substitution - Missense(1)	p.G381D(1)	ovary(1)	breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(1252-1254)gGc>gTc		hepatocyte nuclear factor 4, gamma							200.0	185.0	190.0					8																	76476246		2203	4300	6503	SO:0001583	missense	3174				endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr8:76476246G>T		CCDS6220.2	8q21-q22	2013-01-16			ENSG00000164749	ENSG00000164749		"""Nuclear hormone receptors"""	5026	protein-coding gene	gene with protein product		605966				8622695, 12220494	Standard	NM_004133		Approved	NR2A2	uc003yar.3	Q14541	OTTHUMG00000149920	ENST00000354370.1:c.1142G>T	8.37:g.76476246G>T	ENSP00000346339:p.Gly381Val					HNF4G_ENST00000354370.1_Missense_Mutation_p.G381V	p.G418V	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.161)		10	1377	+	Breast(64;0.0448)		381					Q7Z2V9|Q9UH81|Q9UIS6	Missense_Mutation	SNP	ENST00000354370.1	37	c.1253G>T		.	.	.	.	.	.	.	.	.	.	G	14.37	2.515890	0.44763	.	.	ENSG00000164749	ENST00000354370;ENST00000396423	T;T	0.72167	-0.63;-0.63	5.72	4.83	0.62350	.	1.637000	0.03177	N	0.171608	T	0.70666	0.3250	L	0.45228	1.405	0.80722	D	1	B;B	0.31193	0.165;0.312	B;B	0.29524	0.066;0.103	T	0.45483	-0.9258	10	0.51188	T	0.08	.	16.6153	0.84909	0.0:0.1301:0.8699:0.0	.	418;381	F1D8Q4;Q14541	.;HNF4G_HUMAN	V	381;418	ENSP00000346339:G381V;ENSP00000379701:G418V	ENSP00000346339:G381V	G	+	2	0	HNF4G	76638801	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.767000	0.55288	1.382000	0.46385	0.655000	0.94253	GGC		0.448	HNF4G-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000313914.2	NM_004133		21	138	1	0	1.96292e-10	0.001523	3.83086e-10	21	138				
RNF6	6049	broad.mit.edu	37	13	26789040	26789040	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr13:26789040G>A	ENST00000381588.4	-	5	1731	c.979C>T	c.(979-981)Caa>Taa	p.Q327*	RNF6_ENST00000346166.3_Nonsense_Mutation_p.Q327*|RNF6_ENST00000381570.3_Nonsense_Mutation_p.Q327*|RNF6_ENST00000399762.2_Intron|RNF6_ENST00000468480.1_Intron	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	327	Arg-rich.				negative regulation of axon extension (GO:0030517)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K27-linked ubiquitination (GO:0044314)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		CTTTCCCTTTGGGAATTATGA	0.418																																						ENST00000381588.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23						c.(979-981)Caa>Taa		ring finger protein (C3H2C3 type) 6							172.0	166.0	168.0					13																	26789040		2203	4300	6503	SO:0001587	stop_gained	6049				negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr13:26789040G>A	AJ010346	CCDS9316.1	13q12.2	2013-01-09			ENSG00000127870	ENSG00000127870		"""RING-type (C3HC4) zinc fingers"""	10069	protein-coding gene	gene with protein product	"""RING-H2 protein RNF-6"""	604242				10331950	Standard	NM_005977		Approved	DKFZp686P0776	uc001uqq.3	Q9Y252	OTTHUMG00000016614	ENST00000381588.4:c.979C>T	13.37:g.26789040G>A	ENSP00000371000:p.Gln327*					RNF6_ENST00000346166.3_Nonsense_Mutation_p.Q327*|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000381570.3_Nonsense_Mutation_p.Q327*|RNF6_ENST00000399762.2_Intron	p.Q327*	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)	5	1731	-	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)	327			Arg-rich.		B4DDP0|Q5W0H0|Q9BZP5|Q9UF41	Nonsense_Mutation	SNP	ENST00000381588.4	37	c.979C>T	CCDS9316.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.614607	0.66672	.	.	ENSG00000127870	ENST00000346166;ENST00000381588;ENST00000381570	.	.	.	4.51	4.51	0.55191	.	0.364595	0.25964	N	0.027165	.	.	.	.	.	.	0.25382	N	0.988608	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-6.0752	14.5299	0.67917	0.0:0.0:1.0:0.0	.	.	.	.	X	327	.	ENSP00000342121:Q327X	Q	-	1	0	RNF6	25687040	0.983000	0.35010	0.531000	0.27976	0.640000	0.38277	4.888000	0.63164	2.316000	0.78162	0.557000	0.71058	CAA		0.418	RNF6-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044246.2	NM_005977		19	68	0	0	0	0.001882	0	19	68				
OR2T6	254879	broad.mit.edu	37	1	248551301	248551301	+	Missense_Mutation	SNP	G	G	A	rs371476686		TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr1:248551301G>A	ENST00000355728.2	+	1	392	c.392G>A	c.(391-393)cGc>cAc	p.R131H		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	131						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AACCCACTGCGCTATCCTGTC	0.567																																						ENST00000355728.2																			0				endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(391-393)cGc>cAc		olfactory receptor, family 2, subfamily T, member 6							86.0	84.0	84.0					1																	248551301		2203	4300	6503	SO:0001583	missense	254879				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248551301G>A	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.392G>A	1.37:g.248551301G>A	ENSP00000347965:p.Arg131His						p.R131H	NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	392	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		131					A6NE36	Missense_Mutation	SNP	ENST00000355728.2	37	c.392G>A	CCDS31114.1	.	.	.	.	.	.	.	.	.	.	G	0.819	-0.749221	0.03065	.	.	ENSG00000198104	ENST00000355728	T	0.00669	5.9	4.19	1.06	0.20224	GPCR, rhodopsin-like superfamily (1);	0.152074	0.31358	N	0.007792	T	0.00524	0.0017	N	0.20304	0.555	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.48234	-0.9053	10	0.19590	T	0.45	.	2.9918	0.05986	0.4285:0.0:0.3797:0.1918	.	131	Q8NHC8	OR2T6_HUMAN	H	131	ENSP00000347965:R131H	ENSP00000347965:R131H	R	+	2	0	OR2T6	246617924	0.000000	0.05858	0.002000	0.10522	0.039000	0.13416	-0.579000	0.05834	0.535000	0.28714	-0.766000	0.03442	CGC		0.567	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471		34	51	0	0	0	0.002836	0	34	51				
ZNF280A	129025	broad.mit.edu	37	22	22869426	22869426	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr22:22869426C>G	ENST00000302097.3	-	2	781	c.529G>C	c.(529-531)Gat>Cat	p.D177H	snoU13_ENST00000459485.1_RNA	NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	177					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(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		CTTTTGGAATCTCTGCTGTTT	0.453																																						ENST00000302097.3																			0				endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18						c.(529-531)Gat>Cat		zinc finger protein 280A							89.0	87.0	88.0					22																	22869426		2203	4300	6503	SO:0001583	missense	129025				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22869426C>G	D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"""zinc finger protein 280"", ""suppressor of hairy wing homolog 1 (Drosophila)"""	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.529G>C	22.37:g.22869426C>G	ENSP00000302855:p.Asp177His						p.D177H	NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	2	781	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	177						Missense_Mutation	SNP	ENST00000302097.3	37	c.529G>C	CCDS13800.1	.	.	.	.	.	.	.	.	.	.	c	12.20	1.865570	0.32977	.	.	ENSG00000169548	ENST00000302097	T	0.22743	1.94	3.57	1.38	0.22167	.	.	.	.	.	T	0.12646	0.0307	N	0.08118	0	0.09310	N	1	P	0.40211	0.707	P	0.46049	0.502	T	0.15122	-1.0448	9	0.72032	D	0.01	-1.9743	2.9205	0.05767	0.2151:0.1205:0.0:0.6644	.	177	P59817	Z280A_HUMAN	H	177	ENSP00000302855:D177H	ENSP00000302855:D177H	D	-	1	0	ZNF280A	21199426	0.062000	0.20869	0.002000	0.10522	0.012000	0.07955	0.894000	0.28350	0.228000	0.21019	-1.125000	0.01998	GAT		0.453	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	NM_080740		14	88	0	0	0	0.001855	0	14	88				
OR2T34	127068	broad.mit.edu	37	1	248738034	248738034	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr1:248738034G>C	ENST00000328782.2	-	1	46	c.25C>G	c.(25-27)Cag>Gag	p.Q9E		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	9						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(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTTTGATTCTGAGAAGTCTGA	0.443																																						ENST00000328782.2																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43						c.(25-27)Cag>Gag		olfactory receptor, family 2, subfamily T, member 34							46.0	63.0	57.0					1																	248738034		2069	4274	6343	SO:0001583	missense	127068				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248738034G>C	BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"""GPCR / Class A : Olfactory receptors"""	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.25C>G	1.37:g.248738034G>C	ENSP00000330904:p.Gln9Glu						p.Q9E	NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	46	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		9					B2RNJ8|Q6IEY5|Q96R31	Missense_Mutation	SNP	ENST00000328782.2	37	c.25C>G	CCDS31120.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.533522	0.00145	.	.	ENSG00000183310	ENST00000328782	T	0.00253	8.43	1.37	-2.09	0.07232	.	.	.	.	.	T	0.00073	0.0002	N	0.03967	-0.31	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16808	-1.0390	9	0.02654	T	1	.	5.9871	0.19440	0.0:0.5816:0.4184:0.0	.	9	Q8NGX1	O2T34_HUMAN	E	9	ENSP00000330904:Q9E	ENSP00000330904:Q9E	Q	-	1	0	OR2T34	246804657	0.006000	0.16342	0.012000	0.15200	0.044000	0.14063	-0.394000	0.07296	-0.110000	0.12022	0.134000	0.15878	CAG		0.443	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097138.1	NM_001001821		3	60	0	0	0	0.001168	0	3	60				
IFT140	9742	broad.mit.edu	37	16	1642226	1642226	+	Silent	SNP	C	C	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr16:1642226C>T	ENST00000426508.2	-	6	948	c.585G>A	c.(583-585)ctG>ctA	p.L195L	IFT140_ENST00000439987.2_5'UTR|LA16c-395F10.2_ENST00000563162.1_RNA	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	195					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				ACCCCATCTTCAGCAAACTTC	0.507																																						ENST00000426508.2																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53						c.(583-585)ctG>ctA		intraflagellar transport 140 homolog (Chlamydomonas)							170.0	152.0	158.0					16																	1642226		2199	4300	6499	SO:0001819	synonymous_variant	9742							g.chr16:1642226C>T	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.585G>A	16.37:g.1642226C>T						LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	p.L195L	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN			6	948	-		Hepatocellular(780;0.219)	195					A2A2A8|D3DU75|O60332|Q9UG52	Silent	SNP	ENST00000426508.2	37	c.585G>A	CCDS10439.1																																																																																				0.507	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		11	74	0	0	0	0.000978	0	11	74				
DNASE1L2	1775	broad.mit.edu	37	16	2287938	2287938	+	Silent	SNP	C	C	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr16:2287938C>T	ENST00000564065.1	+	5	1763	c.762C>T	c.(760-762)ggC>ggT	p.G254G	DNASE1L2_ENST00000320700.5_Silent_p.G254G|RP11-304L19.12_ENST00000564055.1_lincRNA|DNASE1L2_ENST00000382437.4_Silent_p.G233G|RP11-304L19.11_ENST00000565709.1_RNA|DNASE1L2_ENST00000567494.1_Silent_p.G254G			Q92874	DNSL2_HUMAN	deoxyribonuclease I-like 2	254					corneocyte development (GO:0003335)|DNA metabolic process (GO:0006259)|hair follicle development (GO:0001942)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			endometrium(1)|prostate(1)|skin(2)	4						TGGCCTGTGGCGCCCGCCTGC	0.672																																						ENST00000564065.1																			0				endometrium(1)|prostate(1)|skin(2)	4						c.(760-762)ggC>ggT		deoxyribonuclease I-like 2							14.0	21.0	19.0					16																	2287938		2020	4154	6174	SO:0001819	synonymous_variant	1775				DNA catabolic process	extracellular region	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters|protein binding	g.chr16:2287938C>T	U62647	CCDS42105.1	16p13.3	2008-02-05				ENSG00000167968			2958	protein-coding gene	gene with protein product		602622				9205125, 1577479	Standard	NM_001374		Approved	DNAS1L2	uc002cpp.3	Q92874		ENST00000564065.1:c.762C>T	16.37:g.2287938C>T						DNASE1L2_ENST00000567494.1_Silent_p.G254G|DNASE1L2_ENST00000382437.4_Silent_p.G233G|DNASE1L2_ENST00000320700.5_Silent_p.G254G	p.G254G			Q92874	DNSL2_HUMAN			5	1763	+			254					E9PBY4|Q6JVM2|Q6JVM3	Silent	SNP	ENST00000564065.1	37	c.762C>T	CCDS42105.1																																																																																				0.672	DNASE1L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435236.1	NM_001374		4	13	0	0	0	0.000248	0	4	13				
ZDBF2	57683	broad.mit.edu	37	2	207171531	207171531	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr2:207171531C>T	ENST00000374423.3	+	5	2665	c.2279C>T	c.(2278-2280)tCa>tTa	p.S760L		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	760							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						CCTCTTCTGTCAGTTACTGAG	0.408																																						ENST00000374423.3																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(2278-2280)tCa>tTa		zinc finger, DBF-type containing 2							184.0	185.0	185.0					2																	207171531		1899	4101	6000	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207171531C>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.2279C>T	2.37:g.207171531C>T	ENSP00000363545:p.Ser760Leu						p.S760L	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	2665	+			760					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.2279C>T	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.549473	0.27652	.	.	ENSG00000204186	ENST00000374423	T	0.61040	0.14	4.37	4.37	0.52481	.	0.299726	0.18426	N	0.141585	T	0.59636	0.2208	M	0.68317	2.08	0.09310	N	1	P	0.46987	0.888	P	0.44732	0.459	T	0.59915	-0.7364	10	0.87932	D	0	.	12.7206	0.57140	0.0:1.0:0.0:0.0	.	760	Q9HCK1	ZDBF2_HUMAN	L	760	ENSP00000363545:S760L	ENSP00000363545:S760L	S	+	2	0	ZDBF2	206879776	0.723000	0.28027	0.017000	0.16124	0.024000	0.10985	2.957000	0.49137	2.721000	0.93114	0.563000	0.77884	TCA		0.408	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		43	158	0	0	0	0.003214	0	43	158				
OR1S2	219958	broad.mit.edu	37	11	57971290	57971290	+	Missense_Mutation	SNP	C	C	T	rs138124206		TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr11:57971290C>T	ENST00000302592.6	-	1	363	c.364G>A	c.(364-366)Gtc>Atc	p.V122I		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V122I(2)		endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				TTGTCAGTGACGACAAACACA	0.473													C|||	1	0.000199681	0.0	0.0014	5008	,	,		23345	0.0		0.0	False		,,,				2504	0.0					ENST00000302592.6																			2	Substitution - Missense(2)	p.V122I(2)	ovary(1)|lung(1)	endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46						c.(364-366)Gtc>Atc		olfactory receptor, family 1, subfamily S, member 2		C	ILE/VAL	1,4401	2.1+/-5.4	0,1,2200	170.0	160.0	163.0		364	2.6	0.1	11	dbSNP_134	163	1,8591	1.2+/-3.3	0,1,4295	no	missense	OR1S2	NM_001004459.1	29	0,2,6495	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging	122/326	57971290	2,12992	2201	4296	6497	SO:0001583	missense	219958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57971290C>T	BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"""GPCR / Class A : Olfactory receptors"""	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.364G>A	11.37:g.57971290C>T	ENSP00000305469:p.Val122Ile						p.V122I	NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN			1	363	-		Breast(21;0.0589)	122					Q6IFG5|Q96R85	Missense_Mutation	SNP	ENST00000302592.6	37	c.364G>A	CCDS31545.1	.	.	.	.	.	.	.	.	.	.	C	0.227	-1.023837	0.02061	2.27E-4	1.16E-4	ENSG00000197887	ENST00000302592	T	0.03004	4.08	4.47	2.58	0.30949	GPCR, rhodopsin-like superfamily (1);	0.549745	0.14948	N	0.289105	T	0.02571	0.0078	N	0.16201	0.385	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.46289	-0.9202	10	0.25751	T	0.34	.	9.9047	0.41368	0.0:0.8296:0.0:0.1704	.	122	Q8NGQ3	OR1S2_HUMAN	I	122	ENSP00000305469:V122I	ENSP00000305469:V122I	V	-	1	0	OR1S2	57727866	0.000000	0.05858	0.071000	0.20095	0.143000	0.21401	-0.693000	0.05121	0.625000	0.30304	0.655000	0.94253	GTC		0.473	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	NM_001004459		34	84	0	0	0	0.004289	0	34	84				
FKBP9	11328	broad.mit.edu	37	7	33028259	33028259	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr7:33028259G>T	ENST00000242209.4	+	6	1203	c.1034G>T	c.(1033-1035)gGa>gTa	p.G345V	FKBP9_ENST00000538443.1_Missense_Mutation_p.G207V|FKBP9_ENST00000489038.1_3'UTR|FKBP9_ENST00000490776.2_Missense_Mutation_p.G113V|FKBP9_ENST00000538336.1_Missense_Mutation_p.G398V|AVL9_ENST00000404479.1_Intron	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	345	PPIase FKBP-type 3. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GGAGAGGAAGGAAGAGGTGAG	0.488																																						ENST00000242209.4																			0				central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39						c.(1033-1035)gGa>gTa		FK506 binding protein 9, 63 kDa							109.0	93.0	98.0					7																	33028259		2203	4300	6503	SO:0001583	missense	11328				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:33028259G>T	AF089745	CCDS5439.1, CCDS64622.1, CCDS64623.1	7p11.1	2013-01-10	2002-08-29		ENSG00000122642	ENSG00000122642		"""EF-hand domain containing"""	3725	protein-coding gene	gene with protein product			"""FK506-binding protein 9 (63 kD)"""			12036304	Standard	NM_007270		Approved	FKBP60, FKBP63	uc003tdh.3	O95302	OTTHUMG00000097847	ENST00000242209.4:c.1034G>T	7.37:g.33028259G>T	ENSP00000242209:p.Gly345Val					FKBP9_ENST00000489038.1_3'UTR|FKBP9_ENST00000538336.1_Missense_Mutation_p.G398V|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000490776.2_Missense_Mutation_p.G113V|FKBP9_ENST00000538443.1_Missense_Mutation_p.G207V	p.G345V	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	GBM - Glioblastoma multiforme(11;0.0156)		6	1203	+			345			PPIase FKBP-type 3.		B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Missense_Mutation	SNP	ENST00000242209.4	37	c.1034G>T	CCDS5439.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.505693	0.85282	.	.	ENSG00000122642	ENST00000242209;ENST00000538336;ENST00000538443;ENST00000418354;ENST00000490776	T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;0.42;0.42	4.47	4.47	0.54385	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.051920	0.85682	D	0.000000	D	0.86155	0.5865	H	0.96576	3.845	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.87578	0.98;0.996;0.998;0.991	D	0.91144	0.4948	10	0.62326	D	0.03	-11.962	17.5068	0.87748	0.0:0.0:1.0:0.0	.	113;398;345;345	B7Z1G9;B7Z6H3;O95302;B3KQQ0	.;.;FKBP9_HUMAN;.	V	345;398;207;113;113	ENSP00000242209:G345V;ENSP00000439250:G398V;ENSP00000437504:G207V;ENSP00000391034:G113V;ENSP00000441317:G113V	ENSP00000242209:G345V	G	+	2	0	FKBP9	32994784	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.700000	0.98707	2.211000	0.71520	0.555000	0.69702	GGA		0.488	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215137.1	NM_007270		10	54	1	0	1.76689e-08	0.006214	3.39356e-08	10	54				
TMEM35	59353	broad.mit.edu	37	X	100349902	100349902	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chrX:100349902C>G	ENST00000372930.4	+	2	744	c.461C>G	c.(460-462)tCc>tGc	p.S154C	TRMT2B-AS1_ENST00000443801.2_RNA|TMEM35_ENST00000478351.1_3'UTR	NM_021637.2	NP_067650.1	Q53FP2	TMM35_HUMAN	transmembrane protein 35	154						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)				NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1)	7						GAGCAACCCTCCTTATATGAG	0.532																																						ENST00000372930.4																			0				NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1)	7						c.(460-462)tCc>tGc		transmembrane protein 35							62.0	57.0	58.0					X																	100349902		2203	4300	6503	SO:0001583	missense	59353					cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane		g.chrX:100349902C>G	AK024146	CCDS14478.1	Xq22	2008-02-05			ENSG00000126950	ENSG00000126950			25864	protein-coding gene	gene with protein product							Standard	NM_021637		Approved	FLJ14084	uc004egw.3	Q53FP2	OTTHUMG00000022016	ENST00000372930.4:c.461C>G	X.37:g.100349902C>G	ENSP00000362021:p.Ser154Cys					TMEM35_ENST00000478351.1_3'UTR	p.S154C	NM_021637.2	NP_067650.1	Q53FP2	TMM35_HUMAN			2	744	+			154					Q9H7Y3	Missense_Mutation	SNP	ENST00000372930.4	37	c.461C>G	CCDS14478.1	.	.	.	.	.	.	.	.	.	.	C	10.06	1.248088	0.22880	.	.	ENSG00000126950	ENST00000372930;ENST00000444892	.	.	.	5.51	3.57	0.40892	.	0.414814	0.27554	N	0.018852	T	0.15349	0.0370	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10245	-1.0638	9	0.51188	T	0.08	-19.165	1.6242	0.02719	0.2114:0.4477:0.1997:0.1412	.	154	Q53FP2	TMM35_HUMAN	C	154;113	.	ENSP00000362021:S154C	S	+	2	0	TMEM35	100236558	0.002000	0.14202	0.991000	0.47740	0.981000	0.71138	1.536000	0.36072	1.021000	0.39600	0.594000	0.82650	TCC		0.532	TMEM35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057508.1	NM_021637		11	71	0	0	0	0.000978	0	11	71				
MROH7	374977	broad.mit.edu	37	1	55148401	55148401	+	Silent	SNP	G	G	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr1:55148401G>T	ENST00000421030.2	+	14	2739	c.2454G>T	c.(2452-2454)ctG>ctT	p.L818L	MROH7_ENST00000409996.1_Silent_p.L386L|MROH7_ENST00000545244.1_Silent_p.L386L|MROH7_ENST00000339553.5_Silent_p.L818L|MROH7_ENST00000395690.2_Silent_p.L818L|MROH7-TTC4_ENST00000414150.2_Silent_p.L818L|MROH7_ENST00000454855.2_Silent_p.L336L	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	818						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											TCCTGGATCTGCTCCTGGGCA	0.612																																						ENST00000414150.2																			0											c.(2452-2454)ctG>ctT		maestro heat-like repeat family member 7							67.0	70.0	69.0					1																	55148401		2028	4183	6211	SO:0001819	synonymous_variant	374977							g.chr1:55148401G>T	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.2454G>T	1.37:g.55148401G>T						MROH7_ENST00000339553.5_Silent_p.L818L|MROH7_ENST00000545244.1_Silent_p.L386L|MROH7_ENST00000454855.2_Silent_p.L336L|MROH7_ENST00000421030.2_Silent_p.L818L|MROH7_ENST00000409996.1_Silent_p.L386L|MROH7_ENST00000395690.2_Silent_p.L818L	p.L818L							14	2732	+								A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Silent	SNP	ENST00000421030.2	37	c.2454G>T	CCDS41342.2																																																																																				0.612	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		19	39	1	0	2.35188e-11	0.006122	4.66521e-11	19	39				
C16orf59	80178	broad.mit.edu	37	16	2514586	2514586	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr16:2514586G>C	ENST00000361837.4	+	10	1284	c.1219G>C	c.(1219-1221)Gcc>Ccc	p.A407P	C16orf59_ENST00000569496.1_3'UTR|RP11-715J22.2_ENST00000563775.1_RNA|C16orf59_ENST00000483320.1_Missense_Mutation_p.A240P|C16orf59_ENST00000563531.1_3'UTR	NM_025108.2	NP_079384.2	Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	407										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				GCCCTGGCTGGCCCTGTGCCG	0.682																																						ENST00000483320.1																			0				lung(1)|skin(1)|urinary_tract(1)	3						c.(718-720)Gcc>Ccc		chromosome 16 open reading frame 59							21.0	24.0	23.0					16																	2514586		1941	4122	6063	SO:0001583	missense	80178							g.chr16:2514586G>C	AK023971	CCDS10468.2	16p13.3	2008-10-30			ENSG00000162062	ENSG00000162062			25849	protein-coding gene	gene with protein product						12477932	Standard	XM_006720955		Approved	FLJ13909	uc002cqh.3	Q7L2K0	OTTHUMG00000128859	ENST00000361837.4:c.1219G>C	16.37:g.2514586G>C	ENSP00000355022:p.Ala407Pro					C16orf59_ENST00000361837.4_Missense_Mutation_p.A407P|C16orf59_ENST00000563531.1_3'UTR|C16orf59_ENST00000569496.1_3'UTR	p.A240P			Q7L2K0	CP059_HUMAN			9	1331	+		Ovarian(90;0.17)	407					B4DXD7|Q96H61|Q9H872	Missense_Mutation	SNP	ENST00000361837.4	37	c.718G>C	CCDS10468.2	.	.	.	.	.	.	.	.	.	.	G	13.77	2.335170	0.41398	.	.	ENSG00000162062	ENST00000361837	T	0.50813	0.73	4.44	-1.77	0.07982	.	0.943391	0.08793	N	0.892995	T	0.38931	0.1059	M	0.61703	1.905	0.09310	N	1	B	0.18461	0.028	B	0.19148	0.024	T	0.42716	-0.9435	10	0.52906	T	0.07	-6.2806	2.7782	0.05353	0.1886:0.1418:0.5251:0.1445	.	407	Q7L2K0	CP059_HUMAN	P	407	ENSP00000355022:A407P	ENSP00000355022:A407P	A	+	1	0	C16orf59	2454587	0.026000	0.19158	0.011000	0.14972	0.010000	0.07245	0.832000	0.27490	-0.134000	0.11516	-1.247000	0.01520	GCC		0.682	C16orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250802.3	NM_025108		5	24	0	0	0	0.001168	0	5	24				
NDUFB1	4707	broad.mit.edu	37	14	92588014	92588014	+	5'UTR	SNP	G	G	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr14:92588014G>T	ENST00000553514.1	-	0	54				NDUFB1_ENST00000555441.1_5'Flank|CPSF2_ENST00000298875.4_5'Flank|NDUFB1_ENST00000329559.3_Silent_p.L36L|NDUFB1_ENST00000605997.1_5'UTR|NDUFB1_ENST00000556555.1_5'UTR			O75438	NDUB1_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1, 7kDa						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			large_intestine(1)|lung(1)	2		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.205)		CAGCGACCCCGAGACCAAGGG	0.711																																						ENST00000329559.3																			0				large_intestine(1)|lung(1)	2						c.(106-108)ctC>ctA		NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1, 7kDa	NADH(DB00157)						38.0	43.0	41.0					14																	92588014		2203	4299	6502	SO:0001623	5_prime_UTR_variant	4707				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr14:92588014G>T	BC104672	CCDS9901.1	14q31.3	2011-07-04	2002-08-29		ENSG00000183648	ENSG00000183648		"""Mitochondrial respiratory chain complex / Complex I"""	7695	protein-coding gene	gene with protein product	"""complex I MNLL subunit"""	603837	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1 (7kD, MNLL)"""			9763677	Standard	NM_004545		Approved	MNLL, CI-MNLL	uc001yaf.3	O75438		ENST00000553514.1:c.-152C>A	14.37:g.92588014G>T						NDUFB1_ENST00000605997.1_5'UTR|NDUFB1_ENST00000556555.1_5'UTR|NDUFB1_ENST00000553514.1_5'UTR	p.L36L	NM_004545.3	NP_004536.2	O75438	NDUB1_HUMAN		COAD - Colon adenocarcinoma(157;0.205)	1	247	-		all_cancers(154;0.0766)	0					A0AV68	Silent	SNP	ENST00000553514.1	37	c.108C>A																																																																																					0.711	NDUFB1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412116.2	NM_004545		9	63	1	0	3.07112e-06	0.000978	5.67336e-06	9	63				
THSD7A	221981	broad.mit.edu	37	7	11514030	11514030	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr7:11514030C>A	ENST00000423059.4	-	8	2434	c.2183G>T	c.(2182-2184)tGc>tTc	p.C728F	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	728	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GCCGACAGAGCAGGAGGCCTC	0.507										HNSCC(18;0.044)																												ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(2182-2184)tGc>tTc		thrombospondin, type I, domain containing 7A							102.0	102.0	102.0					7																	11514030		2040	4198	6238	SO:0001583	missense	221981					integral to membrane		g.chr7:11514030C>A		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.2183G>T	7.37:g.11514030C>A	ENSP00000406482:p.Cys728Phe	HNSCC(18;0.044)				AC004538.3_ENST00000445839.1_RNA	p.C728F	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	8	2434	-			728			TSP type-1 7.			Missense_Mutation	SNP	ENST00000423059.4	37	c.2183G>T	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.965945	0.74131	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.79653	-1.29	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.93996	0.8077	H	0.97783	4.075	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96137	0.9097	10	0.87932	D	0	.	18.9303	0.92563	0.0:1.0:0.0:0.0	.	728	Q9UPZ6	THS7A_HUMAN	F	728	ENSP00000406482:C728F	ENSP00000262042:C728F	C	-	2	0	THSD7A	11480555	1.000000	0.71417	0.998000	0.56505	0.655000	0.38815	7.776000	0.85560	2.550000	0.86006	0.563000	0.77884	TGC		0.507	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		16	67	1	0	0.000566183	0.004990	0.000992872	16	67				
ABCC5	10057	broad.mit.edu	37	3	183695333	183695333	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr3:183695333T>C	ENST00000334444.6	-	10	1616	c.1376A>G	c.(1375-1377)gAa>gGa	p.E459G	ABCC5_ENST00000265586.6_Missense_Mutation_p.E459G|ABCC5_ENST00000492216.1_5'UTR	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	459	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|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)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	CACTGAGGCTTCTGAGAGGGA	0.488																																						ENST00000334444.6																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1375-1377)gAa>gGa		ATP-binding cassette, sub-family C (CFTR/MRP), member 5							81.0	77.0	78.0					3																	183695333		1891	4117	6008	SO:0001583	missense	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183695333T>C	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.1376A>G	3.37:g.183695333T>C	ENSP00000333926:p.Glu459Gly					ABCC5_ENST00000492216.1_5'UTR|ABCC5_ENST00000265586.6_Missense_Mutation_p.E459G	p.E459G	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		10	1616	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		459			ABC transmembrane type-1 1.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	c.1376A>G	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	T	34	5.322895	0.95708	.	.	ENSG00000114770	ENST00000334444;ENST00000382495;ENST00000265586	D;D	0.94613	-3.47;-2.97	6.07	6.07	0.98685	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);	0.000000	0.85682	D	0.000000	D	0.97247	0.9100	M	0.82517	2.595	0.80722	D	1	D;P	0.71674	0.998;0.892	D;P	0.68765	0.96;0.829	D	0.97722	1.0197	10	0.72032	D	0.01	-21.4133	16.6277	0.84984	0.0:0.0:0.0:1.0	.	459;459	Q86UX3;O15440	.;MRP5_HUMAN	G	459;395;459	ENSP00000333926:E459G;ENSP00000265586:E459G	ENSP00000265586:E459G	E	-	2	0	ABCC5	185178027	1.000000	0.71417	0.998000	0.56505	0.950000	0.60333	7.999000	0.88496	2.330000	0.79161	0.528000	0.53228	GAA		0.488	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		13	27	0	0	0	0.001855	0	13	27				
TMTC2	160335	broad.mit.edu	37	12	83289957	83289957	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr12:83289957G>C	ENST00000321196.3	+	3	1722	c.1015G>C	c.(1015-1017)Ggg>Cgg	p.G339R	TMTC2_ENST00000549919.1_Missense_Mutation_p.G333R|TMTC2_ENST00000548305.1_Missense_Mutation_p.G339R	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	339					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						AGAATGCAATGGGAAAACTGT	0.463																																						ENST00000549919.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						c.(997-999)Ggg>Cgg		transmembrane and tetratricopeptide repeat containing 2							105.0	101.0	102.0					12																	83289957		2203	4300	6503	SO:0001583	missense	160335					endoplasmic reticulum|integral to membrane	binding	g.chr12:83289957G>C	AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"""Tetratricopeptide (TTC) repeat domain containing"""	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.1015G>C	12.37:g.83289957G>C	ENSP00000322300:p.Gly339Arg					TMTC2_ENST00000548305.1_Missense_Mutation_p.G339R|TMTC2_ENST00000321196.3_Missense_Mutation_p.G339R	p.G333R			Q8N394	TMTC2_HUMAN			4	2802	+			339					B2RCU7|Q8N2K8	Missense_Mutation	SNP	ENST00000321196.3	37	c.997G>C	CCDS9025.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121846	0.77436	.	.	ENSG00000179104	ENST00000321196;ENST00000548305;ENST00000549919;ENST00000546590	T;T;T	0.60040	0.88;0.22;0.78	5.99	5.99	0.97316	.	0.087371	0.85682	D	0.000000	T	0.59197	0.2176	L	0.47716	1.5	0.80722	D	1	P;B;B	0.49635	0.926;0.091;0.402	P;B;B	0.47744	0.556;0.07;0.232	T	0.50398	-0.8833	10	0.13108	T	0.6	-2.2253	20.4777	0.99188	0.0:0.0:1.0:0.0	.	339;94;339	Q8N394;F8VRQ2;F8VSH2	TMTC2_HUMAN;.;.	R	339;339;333;94	ENSP00000322300:G339R;ENSP00000448292:G339R;ENSP00000447609:G333R	ENSP00000322300:G339R	G	+	1	0	TMTC2	81814088	1.000000	0.71417	0.872000	0.34217	0.737000	0.42083	9.476000	0.97823	2.840000	0.97914	0.655000	0.94253	GGG		0.463	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		10	73	0	0	0	0.006214	0	10	73				
TAF6	6878	broad.mit.edu	37	7	99711874	99711874	+	5'UTR	SNP	G	G	A	rs549883780		TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr7:99711874G>A	ENST00000344095.4	-	0	484				TAF6_ENST00000497233.1_5'UTR|RP11-506M12.1_ENST00000494221.1_RNA|TAF6_ENST00000453269.2_5'UTR|TAF6_ENST00000437822.2_Missense_Mutation_p.R24W|TAF6_ENST00000452041.1_5'UTR|TAF6_ENST00000472509.1_Missense_Mutation_p.R44W|TAF6_ENST00000418432.2_5'UTR	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa						DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGAAGCCCCCGGTGGAGAGAC	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		19097	0.001		0.0	False		,,,				2504	0.0					ENST00000472509.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26						c.(130-132)Cgg>Tgg		TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa							48.0	48.0	48.0					7																	99711874		2203	4300	6503	SO:0001623	5_prime_UTR_variant	6878				negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:99711874G>A		CCDS5686.1, CCDS55135.1	7q	2010-02-26	2002-08-29	2001-12-07	ENSG00000106290	ENSG00000106290			11540	protein-coding gene	gene with protein product	"""TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD"", ""transcription initiation factor TFIID 70 kD subunit"""	602955	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD"""	TAF2E		826207	Standard	NM_139315		Approved	TAFII70, TAFII80, MGC:8964, TAFII85	uc011kji.2	P49848	OTTHUMG00000154771	ENST00000344095.4:c.-42C>T	7.37:g.99711874G>A						TAF6_ENST00000437822.2_Missense_Mutation_p.R24W|TAF6_ENST00000453269.2_5'UTR|TAF6_ENST00000497233.1_5'UTR|TAF6_ENST00000452041.1_5'UTR|TAF6_ENST00000418432.2_5'UTR|TAF6_ENST00000344095.4_5'UTR	p.R44W			P49848	TAF6_HUMAN			1	307	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		0					A4D2B2|A4D2B3|B4DT11|D6W5U2|Q6AI29	Missense_Mutation	SNP	ENST00000344095.4	37	c.130C>T	CCDS5686.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.861456	0.32884	.	.	ENSG00000106290	ENST00000472509;ENST00000437822	T;T	0.48522	0.81;0.82	4.63	3.75	0.43078	.	.	.	.	.	T	0.29684	0.0741	.	.	.	0.20307	N	0.999914	P	0.41159	0.74	B	0.22601	0.04	T	0.17440	-1.0369	8	0.87932	D	0	.	9.1534	0.36978	0.1043:0.0:0.8957:0.0	.	24	B4DT11	.	W	44;24	ENSP00000419760:R44W;ENSP00000399982:R24W	ENSP00000399982:R24W	R	-	1	2	TAF6	99549810	0.038000	0.19896	0.007000	0.13788	0.033000	0.12548	0.512000	0.22755	1.262000	0.44165	0.491000	0.48974	CGG		0.572	TAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337024.2	NM_005641		4	45	0	0	0	0.000248	0	4	45				
DYRK4	8798	broad.mit.edu	37	12	4702231	4702231	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr12:4702231C>T	ENST00000540757.2	+	4	342	c.182C>T	c.(181-183)gCg>gTg	p.A61V	DYRK4_ENST00000010132.5_Missense_Mutation_p.A61V|DYRK4_ENST00000543431.1_Missense_Mutation_p.A61V	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	61			A -> T (in dbSNP:rs12306130).			cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			CTGGGCTACGCGGAGCTGTGG	0.458																																						ENST00000540757.2																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(181-183)gCg>gTg		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4							75.0	81.0	79.0					12																	4702231		2203	4300	6503	SO:0001583	missense	8798					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:4702231C>T	Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.182C>T	12.37:g.4702231C>T	ENSP00000441755:p.Ala61Val					DYRK4_ENST00000010132.5_Missense_Mutation_p.A61V|DYRK4_ENST00000543431.1_Missense_Mutation_p.A61V	p.A61V	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	Colorectal(7;0.103)		4	342	+			61		A -> T (in dbSNP:rs12306130).			A8K8F7|Q8NEF2|Q92631	Missense_Mutation	SNP	ENST00000540757.2	37	c.182C>T	CCDS8530.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.985288	0.53934	.	.	ENSG00000010219	ENST00000542744;ENST00000540757;ENST00000010132;ENST00000543431	T;T;T;T	0.64260	-0.09;-0.07;-0.07;-0.07	4.93	4.01	0.46588	.	0.377447	0.28677	N	0.014507	T	0.46249	0.1383	N	0.19112	0.55	0.80722	D	1	B;B;B	0.26975	0.165;0.156;0.048	B;B;B	0.25987	0.038;0.065;0.03	T	0.48246	-0.9052	10	0.72032	D	0.01	.	10.6754	0.45783	0.1484:0.7083:0.1433:0.0	.	176;61;61	F5H6L9;Q9NR20-2;Q9NR20	.;.;DYRK4_HUMAN	V	176;61;61;61	ENSP00000437534:A176V;ENSP00000441755:A61V;ENSP00000010132:A61V;ENSP00000439697:A61V	ENSP00000010132:A61V	A	+	2	0	DYRK4	4572492	0.902000	0.30710	0.955000	0.39395	0.726000	0.41606	5.190000	0.65104	1.266000	0.44231	0.511000	0.50034	GCG		0.458	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2			15	59	0	0	0	0.004990	0	15	59				
MAEL	84944	broad.mit.edu	37	1	166991064	166991064	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr1:166991064G>C	ENST00000367872.4	+	12	1521	c.1277G>C	c.(1276-1278)gGa>gCa	p.G426A	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.G395A	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	426					cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						CAAAAAGATGGATACAAATCT	0.368																																						ENST00000367872.4																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						c.(1276-1278)gGa>gCa		maelstrom spermatogenic transposon silencer							138.0	139.0	139.0					1																	166991064		2203	4300	6503	SO:0001583	missense	84944				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding	g.chr1:166991064G>C	AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"""cancer/testis antigen 128"", ""spermatogenesis associated 35"""	611368	"""maelstrom homolog (Drosophila)"""			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.1277G>C	1.37:g.166991064G>C	ENSP00000356846:p.Gly426Ala					MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.G395A	p.G426A	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN			12	1521	+			426					B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Missense_Mutation	SNP	ENST00000367872.4	37	c.1277G>C	CCDS1257.1	.	.	.	.	.	.	.	.	.	.	G	10.26	1.301835	0.23736	.	.	ENSG00000143194	ENST00000367872;ENST00000367870;ENST00000537744	T;T	0.46819	0.86;0.87	4.82	1.74	0.24563	.	0.257254	0.27861	N	0.017544	T	0.10723	0.0262	N	0.19112	0.55	0.29368	N	0.864224	P;P	0.52316	0.884;0.952	B;B	0.35607	0.149;0.206	T	0.10451	-1.0629	10	0.54805	T	0.06	.	5.7661	0.18227	0.3413:0.0:0.6587:0.0	.	395;426	E9JVC3;Q96JY0	.;MAEL_HUMAN	A	426;395;148	ENSP00000356846:G426A;ENSP00000356844:G395A	ENSP00000356844:G395A	G	+	2	0	MAEL	165257688	0.982000	0.34865	0.934000	0.37439	0.676000	0.39594	1.927000	0.40094	0.644000	0.30656	-0.136000	0.14681	GGA		0.368	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083239.1	NM_032858		5	47	0	0	0	0.001168	0	5	47				
KIAA1524	57650	broad.mit.edu	37	3	108271206	108271206	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr3:108271206T>A	ENST00000295746.8	-	20	2498	c.2422A>T	c.(2422-2424)Aca>Tca	p.T808S	KIAA1524_ENST00000491772.1_Missense_Mutation_p.T649S	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	808					positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGTACTTTTGTTTTTTGATGC	0.313																																						ENST00000295746.8																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(2422-2424)Aca>Tca		KIAA1524							91.0	87.0	89.0					3																	108271206		2195	4297	6492	SO:0001583	missense	57650					cytoplasm|integral to membrane	protein binding	g.chr3:108271206T>A	AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"""cancerous inhibitor of protein phosphatase 2A"""	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.2422A>T	3.37:g.108271206T>A	ENSP00000295746:p.Thr808Ser					KIAA1524_ENST00000491772.1_Missense_Mutation_p.T649S	p.T808S	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN			20	2498	-			808					A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Missense_Mutation	SNP	ENST00000295746.8	37	c.2422A>T	CCDS33812.1	.	.	.	.	.	.	.	.	.	.	T	10.70	1.424341	0.25639	.	.	ENSG00000163507	ENST00000491772;ENST00000295746	T;T	0.65916	-0.18;-0.18	4.91	-5.5	0.02576	.	0.978022	0.08443	N	0.945156	T	0.34600	0.0903	N	0.16478	0.41	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.17961	-1.0352	10	0.16896	T	0.51	3.3068	3.7989	0.08750	0.2206:0.4565:0.1125:0.2104	.	808	Q8TCG1	CIP2A_HUMAN	S	649;808	ENSP00000419487:T649S;ENSP00000295746:T808S	ENSP00000295746:T808S	T	-	1	0	KIAA1524	109753896	0.366000	0.25014	0.010000	0.14722	0.867000	0.49689	0.151000	0.16283	-1.185000	0.02716	-0.503000	0.04515	ACA		0.313	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353975.2	NM_020890		4	13	0	0	0	0.000248	0	4	13				
CRISP3	10321	broad.mit.edu	37	6	49703279	49703279	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr6:49703279T>C	ENST00000393666.1	-	3	221	c.215A>G	c.(214-216)aAt>aGt	p.N72S	CRISP3_ENST00000423399.2_5'UTR|CRISP3_ENST00000371159.4_Missense_Mutation_p.N103S|CRISP3_ENST00000433368.2_Missense_Mutation_p.N95S|CRISP3_ENST00000263045.4_Missense_Mutation_p.N85S			P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	72	SCP.				defense response (GO:0006952)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|specific granule (GO:0042581)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CTTTTGGGCATTTGCTGCAGC	0.368																																						ENST00000433368.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27						c.(283-285)aAt>aGt		cysteine-rich secretory protein 3							148.0	139.0	142.0					6																	49703279		2203	4300	6503	SO:0001583	missense	10321				innate immune response	proteinaceous extracellular matrix|specific granule		g.chr6:49703279T>C	X94323	CCDS4929.1, CCDS4929.2, CCDS55019.1	6p12.3	2008-02-05			ENSG00000096006	ENSG00000096006			16904	protein-coding gene	gene with protein product						8665901, 12223513	Standard	NM_006061		Approved	SGP28, CRISP-3, CRS3, dJ442L6.3, Aeg2	uc003ozs.3	P54108	OTTHUMG00000014823	ENST00000393666.1:c.215A>G	6.37:g.49703279T>C	ENSP00000377274:p.Asn72Ser					CRISP3_ENST00000371159.4_Missense_Mutation_p.N103S|CRISP3_ENST00000263045.4_Missense_Mutation_p.N85S|CRISP3_ENST00000393666.1_Missense_Mutation_p.N72S|CRISP3_ENST00000423399.2_5'UTR	p.N95S	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		4	353	-	Lung NSC(77;0.0161)		72					A8K9S1|B2R8I8|Q15512|Q3MJ82|Q53FA9|Q5JW83|Q9H108	Missense_Mutation	SNP	ENST00000393666.1	37	c.284A>G		.	.	.	.	.	.	.	.	.	.	T	16.66	3.183783	0.57800	.	.	ENSG00000096006	ENST00000263045;ENST00000433368;ENST00000393666;ENST00000371159;ENST00000354620	T;T;T;T;T	0.06933	3.24;3.24;3.24;3.24;3.24	4.79	3.56	0.40772	CAP domain (3);	0.577112	0.13582	U	0.377246	T	0.03220	0.0094	L	0.35723	1.085	0.29230	N	0.873362	P	0.45715	0.865	P	0.45610	0.487	T	0.40590	-0.9555	10	0.18710	T	0.47	.	8.5302	0.33329	0.0:0.0:0.1945:0.8055	.	72	P54108	CRIS3_HUMAN	S	85;95;72;103;95	ENSP00000263045:N85S;ENSP00000389026:N95S;ENSP00000377274:N72S;ENSP00000360201:N103S;ENSP00000346636:N95S	ENSP00000263045:N85S	N	-	2	0	CRISP3	49811238	0.500000	0.26091	0.444000	0.26895	0.788000	0.44548	0.874000	0.28065	1.776000	0.52262	0.379000	0.24179	AAT		0.368	CRISP3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006061		21	97	0	0	0	0.001882	0	21	97				
PRKAA1	5562	broad.mit.edu	37	5	40798208	40798208	+	Silent	SNP	A	A	G			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr5:40798208A>G	ENST00000397128.2	-	1	92	c.84T>C	c.(82-84)atT>atC	p.I28I	PRKAA1_ENST00000296800.4_Silent_p.I19I|PRKAA1_ENST00000354209.3_Silent_p.I28I	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	28	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to glucose starvation (GO:0042149)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|cold acclimation (GO:0009631)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|fatty acid oxidation (GO:0019395)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of glucosylceramide biosynthetic process (GO:0046318)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of gene expression (GO:0010628)|positive regulation of glycolytic process (GO:0045821)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of transcription, DNA-templated (GO:0006355)|regulation of vesicle-mediated transport (GO:0060627)|response to activity (GO:0014823)|response to caffeine (GO:0031000)|response to camptothecin (GO:1901563)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	AMP-activated protein kinase complex (GO:0031588)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|tau-protein kinase activity (GO:0050321)			breast(1)	1					Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	TGTCACCCAGAATGTAGTGGC	0.642																																						ENST00000397128.2																			0				breast(1)	1						c.(82-84)atT>atC		protein kinase, AMP-activated, alpha 1 catalytic subunit	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)						56.0	72.0	67.0					5																	40798208		2201	4300	6501	SO:0001819	synonymous_variant	5562				activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding	g.chr5:40798208A>G		CCDS3932.2, CCDS3933.2	5p13.1	2012-10-03			ENSG00000132356	ENSG00000132356			9376	protein-coding gene	gene with protein product	"""AMPK, alpha, 1"""	602739				8557660	Standard	XM_006714481		Approved	AMPKa1	uc003jmb.3	Q13131	OTTHUMG00000162269	ENST00000397128.2:c.84T>C	5.37:g.40798208A>G						PRKAA1_ENST00000354209.3_Silent_p.I28I|PRKAA1_ENST00000296800.4_Silent_p.I19I	p.I28I	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN			1	92	-			28			Protein kinase.		A8MTQ6|B2R7E1|O00286|Q5D0E1|Q86VS1|Q9UNQ4	Silent	SNP	ENST00000397128.2	37	c.84T>C	CCDS3932.2																																																																																				0.642	PRKAA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253833.2	NM_006251		8	32	0	0	0	0.004482	0	8	32				
FMR1NB	158521	broad.mit.edu	37	X	147106392	147106392	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chrX:147106392G>A	ENST00000370467.3	+	5	714	c.640G>A	c.(640-642)Gcc>Acc	p.A214T		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	214						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					CAGCGAACCGGCCGATGATTT	0.378																																						ENST00000370467.3																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25						c.(640-642)Gcc>Acc		fragile X mental retardation 1 neighbor							111.0	106.0	108.0					X																	147106392		2203	4300	6503	SO:0001583	missense	158521					integral to membrane		g.chrX:147106392G>A		CCDS14683.1	Xq28	2009-03-25			ENSG00000176988	ENSG00000176988			26372	protein-coding gene	gene with protein product	"""cancer/testis antigen 37"""					12601173	Standard	NM_152578		Approved	FLJ25736, NY-SAR-35, CT37	uc004fcm.3	Q8N0W7	OTTHUMG00000022608	ENST00000370467.3:c.640G>A	X.37:g.147106392G>A	ENSP00000359498:p.Ala214Thr						p.A214T	NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN			5	714	+	Acute lymphoblastic leukemia(192;6.56e-05)		214					D3DWT3	Missense_Mutation	SNP	ENST00000370467.3	37	c.640G>A	CCDS14683.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.372637	0.42003	.	.	ENSG00000176988	ENST00000370467	T	0.46451	0.87	3.79	0.577	0.17385	.	0.492198	0.15173	N	0.276557	T	0.27169	0.0666	N	0.14661	0.345	0.09310	N	1	P	0.45126	0.851	P	0.47402	0.546	T	0.12142	-1.0559	10	0.87932	D	0	.	2.7925	0.05392	0.2514:0.0:0.4641:0.2845	.	214	Q8N0W7	FMR1N_HUMAN	T	214	ENSP00000359498:A214T	ENSP00000359498:A214T	A	+	1	0	FMR1NB	146914084	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.188000	0.17018	-0.011000	0.14247	0.600000	0.82982	GCC		0.378	FMR1NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058667.1	NM_152578		11	76	0	0	0	0.000978	0	11	76				
TMEM74B	55321	broad.mit.edu	37	20	1161695	1161695	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr20:1161695G>A	ENST00000381894.3	-	2	1239	c.568C>T	c.(568-570)Ctc>Ttc	p.L190F	TMEM74B_ENST00000481747.1_5'Flank	NM_018354.1	NP_060824.1	Q9NUR3	TM74B_HUMAN	transmembrane protein 74B	190						integral component of membrane (GO:0016021)											ACCGACAAGAGCATGCCGCCC	0.652																																						ENST00000381894.3																			0											c.(568-570)Ctc>Ttc		transmembrane protein 74B							56.0	42.0	47.0					20																	1161695		2203	4300	6503	SO:0001583	missense	55321					integral to membrane	protein binding	g.chr20:1161695G>A	AK002052	CCDS13011.1	20p13	2011-11-23	2011-11-23	2011-11-23	ENSG00000125895	ENSG00000125895			15893	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 46"""	C20orf46			Standard	XM_005260748		Approved	FLJ11190	uc002weq.1	Q9NUR3	OTTHUMG00000031655	ENST00000381894.3:c.568C>T	20.37:g.1161695G>A	ENSP00000371318:p.Leu190Phe						p.L190F	NM_018354.1	NP_060824.1	Q9NUR3	CT046_HUMAN			2	1239	-			190					D3DVW5	Missense_Mutation	SNP	ENST00000381894.3	37	c.568C>T	CCDS13011.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.510858	0.64522	.	.	ENSG00000125895	ENST00000381894	T	0.23147	1.92	4.26	4.26	0.50523	.	0.205916	0.31335	N	0.007829	T	0.29817	0.0745	L	0.58101	1.795	0.46260	D	0.998955	P	0.42518	0.782	B	0.40677	0.337	T	0.21381	-1.0247	10	0.62326	D	0.03	-22.7253	15.6112	0.76721	0.0:0.0:1.0:0.0	.	190	Q9NUR3	CT046_HUMAN	F	190	ENSP00000371318:L190F	ENSP00000371318:L190F	L	-	1	0	C20orf46	1109695	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.736000	0.38187	2.186000	0.69663	0.655000	0.94253	CTC		0.652	TMEM74B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077496.2	NM_018354		4	42	0	0	0	0.000248	0	4	42				
BMS1P20	96610	broad.mit.edu	37	22	22663087	22663087	+	RNA	SNP	A	A	G	rs1054158|rs71318762	byFrequency	TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr22:22663087A>G	ENST00000426066.1	+	0	526					NR_027293.1				BMS1 pseudogene 20																		GCTGCCACATAAGTTGTCCTT	0.303													.|||	3161	0.63119	0.9652	0.4726	5008	,	,		8984	0.4077		0.5219	False		,,,				2504	0.635					ENST00000426066.1																			0																																																			96610							g.chr22:22663087A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22663087A>G								NR_027293.1						0	526	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.303	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	35	0	0	0	0.000248	0	4	35				
RIC8B	55188	broad.mit.edu	37	12	107279729	107279729	+	Missense_Mutation	SNP	C	C	T	rs535569865		TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr12:107279729C>T	ENST00000392839.2	+	9	1605	c.1499C>T	c.(1498-1500)aCg>aTg	p.T500M	RIC8B_ENST00000392837.4_Missense_Mutation_p.T540M|RIC8B_ENST00000355478.2_3'UTR|RIC8B_ENST00000549643.1_Missense_Mutation_p.T10M	NM_018157.2	NP_060627.2	Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	500					regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	G-protein alpha-subunit binding (GO:0001965)|guanyl-nucleotide exchange factor activity (GO:0005085)			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						GGGACAATAACGCCTTTGGAG	0.413													C|||	1	0.000199681	0.0	0.0	5008	,	,		13573	0.0		0.0	False		,,,				2504	0.001					ENST00000392837.4																			0				kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						c.(1618-1620)aCg>aTg		RIC8 guanine nucleotide exchange factor B							127.0	126.0	126.0					12																	107279729		1934	4137	6071	SO:0001583	missense	55188				regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity	g.chr12:107279729C>T	AK128102	CCDS9109.2	12q23.3	2013-08-05	2013-08-05		ENSG00000111785	ENSG00000111785			25555	protein-coding gene	gene with protein product		609147	"""resistance to inhibitors of cholinesterase 8 homolog B (C. elegans)"""				Standard	XM_005268998		Approved	FLJ10620, hSyn, RIC8	uc001tlx.3	Q9NVN3	OTTHUMG00000144188	ENST00000392839.2:c.1499C>T	12.37:g.107279729C>T	ENSP00000376583:p.Thr500Met					RIC8B_ENST00000392839.2_Missense_Mutation_p.T500M|RIC8B_ENST00000355478.2_3'UTR|RIC8B_ENST00000549643.1_Missense_Mutation_p.T10M	p.T540M			Q9NVN3	RIC8B_HUMAN			10	1770	+			500					A2RTZ0|Q4G103|Q6ZRN4|Q86WD3	Missense_Mutation	SNP	ENST00000392839.2	37	c.1619C>T	CCDS9109.2	.	.	.	.	.	.	.	.	.	.	C	13.39	2.223525	0.39300	.	.	ENSG00000111785	ENST00000392837;ENST00000392839;ENST00000549643	.	.	.	5.73	5.73	0.89815	.	0.128497	0.51477	U	0.000095	T	0.37865	0.1019	L	0.34521	1.04	0.23758	N	0.99692	D	0.54047	0.964	B	0.42188	0.379	T	0.33803	-0.9854	9	0.48119	T	0.1	-4.5442	19.248	0.93909	0.0:1.0:0.0:0.0	.	500	Q9NVN3	RIC8B_HUMAN	M	540;500;10	.	ENSP00000376582:T540M	T	+	2	0	RIC8B	105803859	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.697000	0.68295	2.861000	0.98227	0.655000	0.94253	ACG		0.413	RIC8B-006	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000291398.2	NM_018157		18	116	0	0	0	0.001882	0	18	116				
PPP1R14D	54866	broad.mit.edu	37	15	41120651	41120651	+	Silent	SNP	C	C	G			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr15:41120651C>G	ENST00000299174.5	-	1	256	c.189G>C	c.(187-189)cgG>cgC	p.R63R	PPP1R14D_ENST00000427255.2_Silent_p.R63R	NM_017726.7	NP_060196.1	Q9NXH3	PP14D_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14D	63					regulation of phosphorylation (GO:0042325)	cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)			breast(1)|large_intestine(2)|lung(2)|skin(1)	6		all_cancers(109;6.29e-14)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.88e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GGAGCTGGCCCCGGTCATACT	0.597																																						ENST00000299174.5																			0				breast(1)|large_intestine(2)|lung(2)|skin(1)	6						c.(187-189)cgG>cgC		protein phosphatase 1, regulatory (inhibitor) subunit 14D							71.0	73.0	72.0					15																	41120651		2203	4300	6503	SO:0001819	synonymous_variant	54866				regulation of phosphorylation	cytoplasm	protein phosphatase inhibitor activity	g.chr15:41120651C>G	AK000258	CCDS10066.1, CCDS45230.1	15q11.2-q14	2012-04-17			ENSG00000166143	ENSG00000166143		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14953	protein-coding gene	gene with protein product	"""gut and brain phosphatase inhibitor 1"", ""PKC-dependent PP1 inhibitory protein"""	613256				11948623	Standard	NM_017726		Approved	CPI17-like, FLJ20251, GBPI-1, MGC119014, MGC119016	uc001zmz.3	Q9NXH3	OTTHUMG00000130064	ENST00000299174.5:c.189G>C	15.37:g.41120651C>G						PPP1R14D_ENST00000427255.2_Silent_p.R63R	p.R63R	NM_017726.7	NP_060196.1	Q9NXH3	PP14D_HUMAN		GBM - Glioblastoma multiforme(113;2.88e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)	1	256	-		all_cancers(109;6.29e-14)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)	63					Q4V773	Silent	SNP	ENST00000299174.5	37	c.189G>C	CCDS10066.1																																																																																				0.597	PPP1R14D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252355.2	NM_017726		8	68	0	0	0	0.003080	0	8	68				
ATP2A2	488	broad.mit.edu	37	12	110780124	110780124	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr12:110780124C>G	ENST00000539276.2	+	15	2298	c.2189C>G	c.(2188-2190)tCt>tGt	p.S730C	ATP2A2_ENST00000395494.2_Missense_Mutation_p.S703C|ATP2A2_ENST00000308664.6_Missense_Mutation_p.S730C			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	730					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						AAAACCGCCTCTGAGATGGTC	0.557																																						ENST00000395494.2																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						c.(2107-2109)tCt>tGt		ATPase, Ca++ transporting, cardiac muscle, slow twitch 2							136.0	118.0	124.0					12																	110780124		2203	4300	6503	SO:0001583	missense	488				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	g.chr12:110780124C>G		CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"""ATPases / P-type"""	812	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 2"", ""calcium pump 2"""	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.2189C>G	12.37:g.110780124C>G	ENSP00000440045:p.Ser730Cys					ATP2A2_ENST00000539276.2_Missense_Mutation_p.S730C|ATP2A2_ENST00000308664.6_Missense_Mutation_p.S730C	p.S703C			P16615	AT2A2_HUMAN			14	2671	+			730					A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	ENST00000539276.2	37	c.2108C>G	CCDS9144.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.762862	0.69763	.	.	ENSG00000174437	ENST00000308664;ENST00000395494;ENST00000539276	D;D;D	0.99214	-5.57;-5.57;-5.57	5.27	5.27	0.74061	HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.99551	0.9839	M	0.91140	3.18	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.83275	0.979;0.996;0.994	D	0.98225	1.0480	10	0.87932	D	0	.	18.8916	0.92407	0.0:1.0:0.0:0.0	.	703;730;730	P16615-4;P16615-2;P16615	.;.;AT2A2_HUMAN	C	730;703;730	ENSP00000311186:S730C;ENSP00000378872:S703C;ENSP00000440045:S730C	ENSP00000311186:S730C	S	+	2	0	ATP2A2	109264507	1.000000	0.71417	1.000000	0.80357	0.181000	0.23173	7.818000	0.86416	2.469000	0.83416	0.561000	0.74099	TCT		0.557	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		15	75	0	0	0	0.003163	0	15	75				
MAGEA11	4110	broad.mit.edu	37	X	148794917	148794917	+	Splice_Site	SNP	T	T	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chrX:148794917T>A	ENST00000355220.5	+	2	198		c.e2+2		MAGEA11_ENST00000333104.4_Intron	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11							cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GGACTCCAGGTCAGTAGGGAC	0.592																																						ENST00000355220.5																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9						c.e2+2		melanoma antigen family A, 11							116.0	87.0	97.0					X																	148794917		2203	4300	6503	SO:0001630	splice_region_variant	4110					cytoplasm|nucleus	protein binding	g.chrX:148794917T>A		CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247			6798	protein-coding gene	gene with protein product	"""MAGE-11 antigen"", ""melanoma-associated antigen 11"", ""cancer/testis antigen family 1, member 11"""	300344		MAGE11		8575766	Standard	NM_001011544		Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.96+2T>A	X.37:g.148794917T>A						MAGEA11_ENST00000333104.4_Intron		NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN			2	198	+	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)							Q5ETU4|Q6ZRZ5	Splice_Site	SNP	ENST00000355220.5	37		CCDS48180.1	.	.	.	.	.	.	.	.	.	.	-	0.261	-0.999626	0.02128	.	.	ENSG00000185247	ENST00000355220	.	.	.	0.963	-1.93	0.07594	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.8822	0.09083	0.3859:0.0:0.0:0.6141	.	.	.	.	.	-1	.	.	.	+	.	.	MAGEA11	148579488	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.448000	0.02394	-1.280000	0.02402	-0.968000	0.02614	.		0.592	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058725.4	NM_005366	Intron	16	37	0	0	0	0.003163	0	16	37				
ZNF827	152485	broad.mit.edu	37	4	146807275	146807275	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr4:146807275C>A	ENST00000508784.1	-	4	1529	c.1302G>T	c.(1300-1302)caG>caT	p.Q434H	ZNF827_ENST00000379448.4_Missense_Mutation_p.Q434H|ZNF827_ENST00000513320.1_Missense_Mutation_p.Q84H			Q17R98	ZN827_HUMAN	zinc finger protein 827	434					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)					ACAGCTGGCACTGAAAGGTCT	0.522																																						ENST00000508784.1																			0				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						c.(1300-1302)caG>caT		zinc finger protein 827							89.0	79.0	82.0					4																	146807275		2203	4300	6503	SO:0001583	missense	152485				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:146807275C>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.1302G>T	4.37:g.146807275C>A	ENSP00000421863:p.Gln434His					ZNF827_ENST00000379448.4_Missense_Mutation_p.Q434H|ZNF827_ENST00000513320.1_Missense_Mutation_p.Q84H	p.Q434H			Q17R98	ZN827_HUMAN			4	1529	-	all_hematologic(180;0.151)		434					B7ZL52|Q7Z4S7|Q8N279	Missense_Mutation	SNP	ENST00000508784.1	37	c.1302G>T		.	.	.	.	.	.	.	.	.	.	C	18.31	3.596536	0.66332	.	.	ENSG00000151612	ENST00000508784;ENST00000513320;ENST00000379448;ENST00000281318;ENST00000440280	T;T;T	0.29142	1.58;1.58;1.58	5.41	4.57	0.56435	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.45196	0.1330	L	0.45285	1.41	0.44268	D	0.99712	D;D;D	0.67145	0.994;0.996;0.994	D;D;D	0.81914	0.991;0.995;0.954	T	0.40327	-0.9569	10	0.72032	D	0.01	-19.9589	10.7252	0.46064	0.0:0.8351:0.0:0.1649	.	84;434;434	G5E9Z1;Q17R98;Q17R98-2	.;ZN827_HUMAN;.	H	434;84;434;433;84	ENSP00000421863:Q434H;ENSP00000423130:Q84H;ENSP00000368761:Q434H	ENSP00000281318:Q433H	Q	-	3	2	ZNF827	147026725	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.447000	0.44917	1.288000	0.44600	0.561000	0.74099	CAG		0.522	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835		7	16	1	0	8.12818e-05	0.001984	0.000147896	7	16				
ALOX12B	242	broad.mit.edu	37	17	7983127	7983127	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr17:7983127G>A	ENST00000319144.4	-	7	1147	c.887C>T	c.(886-888)cCg>cTg	p.P296L	ALOX12B_ENST00000577351.1_5'Flank|AC129492.6_ENST00000399413.3_5'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	296	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						GCCCAGGAACGGAGCCACCAT	0.687										Multiple Myeloma(8;0.094)																												ENST00000319144.4																			0				endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						c.(886-888)cCg>cTg		arachidonate 12-lipoxygenase, 12R type							37.0	35.0	35.0					17																	7983127		2203	4300	6503	SO:0001583	missense	242				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7983127G>A	AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"""Arachidonate lipoxygenases"""	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.887C>T	17.37:g.7983127G>A	ENSP00000315167:p.Pro296Leu	Multiple Myeloma(8;0.094)				AC129492.6_ENST00000399413.3_5'UTR	p.P296L	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN			7	1147	-			296			Lipoxygenase.			Missense_Mutation	SNP	ENST00000319144.4	37	c.887C>T	CCDS11129.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.862334	0.71949	.	.	ENSG00000179477	ENST00000319144	D	0.89939	-2.59	4.25	4.25	0.50352	Lipoxygenase, C-terminal (3);	0.645319	0.16303	N	0.220352	D	0.85758	0.5771	L	0.47190	1.495	0.33342	D	0.569975	P	0.42409	0.779	B	0.42245	0.381	D	0.87738	0.2583	10	0.33141	T	0.24	-23.4549	12.4713	0.55790	0.0:0.1704:0.8296:0.0	.	296	O75342	LX12B_HUMAN	L	296	ENSP00000315167:P296L	ENSP00000315167:P296L	P	-	2	0	ALOX12B	7923852	0.005000	0.15991	0.983000	0.44433	0.921000	0.55340	0.948000	0.29096	2.385000	0.81259	0.555000	0.69702	CCG		0.687	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3			4	17	0	0	0	0.000602	0	4	17				
TSIX	9383	broad.mit.edu	37	X	73042820	73042820	+	lincRNA	SNP	C	C	G			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chrX:73042820C>G	ENST00000604411.1	+	0	30781				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		TTACGTCTTTCAAGCACTTAA	0.303																																						ENST00000604411.1																			0																				100.0	106.0	104.0					X																	73042820		875	1990	2865			9383							g.chrX:73042820C>G			Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73042820C>G						XIST_ENST00000429829.1_lincRNA		NR_003255.2						0	30781	+									RNA	SNP	ENST00000604411.1	37																																																																																						0.303	TSIX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469120.1	NR_003255		12	99	0	0	0	0.000978	0	12	99				
GPR114	221188	broad.mit.edu	37	16	57608852	57608852	+	Missense_Mutation	SNP	C	C	T	rs149449822		TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr16:57608852C>T	ENST00000340339.4	+	11	1857	c.1334C>T	c.(1333-1335)gCg>gTg	p.A445V	GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Missense_Mutation_p.A445V	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	445					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						CGGGAGCGGGCGGATGCACCA	0.652																																						ENST00000340339.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						c.(1333-1335)gCg>gTg		G protein-coupled receptor 114		C	VAL/ALA	1,4395	2.1+/-5.4	0,1,2197	68.0	54.0	59.0		1334	-0.7	0.0	16	dbSNP_134	59	1,8599	1.2+/-3.3	0,1,4299	no	missense	GPR114	NM_153837.1	64	0,2,6496	TT,TC,CC		0.0116,0.0227,0.0154	benign	445/529	57608852	2,12994	2198	4300	6498	SO:0001583	missense	221188				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr16:57608852C>T	AY140956	CCDS10785.1	16q13	2014-08-08			ENSG00000159618	ENSG00000159618		"""-"", ""GPCR / Class B : Orphans"""	19010	protein-coding gene	gene with protein product						12435584	Standard	NM_153837		Approved	PGR27	uc002ely.3	Q8IZF4	OTTHUMG00000133461	ENST00000340339.4:c.1334C>T	16.37:g.57608852C>T	ENSP00000342981:p.Ala445Val					GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Missense_Mutation_p.A445V	p.A445V	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN			11	1857	+			445					B3KXZ5|Q6ZMH7|Q6ZML4|Q86SL8|Q8IZ14	Missense_Mutation	SNP	ENST00000340339.4	37	c.1334C>T	CCDS10785.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	5.995|5.995	0.367422|0.367422	0.11352|0.11352	2.27E-4|2.27E-4	1.16E-4|1.16E-4	ENSG00000159618|ENSG00000159618	ENST00000340339;ENST00000349457|ENST00000394361	T;T|.	0.47177|.	0.85;0.85|.	5.56|5.56	-0.738|-0.738	0.11125|0.11125	GPCR, family 2-like (1);|.	0.921118|.	0.09165|.	N|.	0.839675|.	T|T	0.18882|0.18882	0.0453|0.0453	N|N	0.20685|0.20685	0.6|0.6	0.09310|0.09310	N|N	1|1	B|B	0.18968|0.17465	0.032|0.022	B|B	0.12837|0.08055	0.008|0.003	T|T	0.21690|0.21690	-1.0238|-1.0238	10|8	0.30078|0.72032	T|D	0.28|0.01	.|.	1.8987|1.8987	0.03263|0.03263	0.3979:0.2785:0.0739:0.2497|0.3979:0.2785:0.0739:0.2497	.|.	445|406	Q8IZF4|B4E148	GP114_HUMAN|.	V|W	445|406	ENSP00000342981:A445V;ENSP00000290823:A445V|.	ENSP00000342981:A445V|ENSP00000377888:R406W	A|R	+|+	2|1	0|2	GPR114|GPR114	56166353|56166353	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	0.086000|0.086000	0.14935|0.14935	-0.441000|-0.441000	0.07201|0.07201	-1.169000|-1.169000	0.01745|0.01745	GCG|CGG		0.652	GPR114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257336.3	NM_153837		9	33	0	0	0	0.004482	0	9	33				
DUSP18	150290	broad.mit.edu	37	22	31059928	31059928	+	Silent	SNP	C	C	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr22:31059928C>T	ENST00000334679.3	-	2	568	c.63G>A	c.(61-63)tcG>tcA	p.S21S	DUSP18_ENST00000461301.1_Intron|DUSP18_ENST00000403268.1_Silent_p.S21S|DUSP18_ENST00000404885.1_Silent_p.S21S|DUSP18_ENST00000407308.1_Silent_p.S21S	NM_152511.3	NP_689724.3	Q8NEJ0	DUS18_HUMAN	dual specificity phosphatase 18	21					peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						TGGTTATCTGCGAGAGGCCGC	0.557																																						ENST00000403268.1																			0				large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						c.(61-63)tcG>tcA		dual specificity phosphatase 18							79.0	72.0	74.0					22																	31059928		2203	4300	6503	SO:0001819	synonymous_variant	150290					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:31059928C>T	AF461689	CCDS13883.1	22q12.1	2011-06-09				ENSG00000167065		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	18484	protein-coding gene	gene with protein product		611446				12408986	Standard	NM_152511		Approved	DUSP20	uc003aiw.1	Q8NEJ0		ENST00000334679.3:c.63G>A	22.37:g.31059928C>T						DUSP18_ENST00000334679.3_Silent_p.S21S|DUSP18_ENST00000461301.1_Intron|DUSP18_ENST00000407308.1_Silent_p.S21S|DUSP18_ENST00000404885.1_Silent_p.S21S	p.S21S			Q8NEJ0	DUS18_HUMAN			2	533	-			21					B3KPA4	Silent	SNP	ENST00000334679.3	37	c.63G>A	CCDS13883.1																																																																																				0.557	DUSP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321400.1			5	63	0	0	0	0.000602	0	5	63				
CPVL	54504	broad.mit.edu	37	7	29035453	29035453	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr7:29035453G>C	ENST00000409850.1	-	17	2012	c.1366C>G	c.(1366-1368)Ctg>Gtg	p.L456V	CTB-113D17.1_ENST00000609389.1_RNA|CPVL_ENST00000396276.3_Missense_Mutation_p.L456V|CPVL_ENST00000265394.5_Missense_Mutation_p.L456V			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	456						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						AAAGCTCTCAGAGGCTGGTCA	0.343																																						ENST00000409850.1																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						c.(1366-1368)Ctg>Gtg		carboxypeptidase, vitellogenic-like							75.0	71.0	73.0					7																	29035453		2203	4300	6503	SO:0001583	missense	54504				proteolysis		protein binding|serine-type carboxypeptidase activity	g.chr7:29035453G>C	AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"""carboxypeptidase WUG"", ""vitellogenic carboxypeptidase-like protein"", ""CP-Mac carboxypeptidase"""	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.1366C>G	7.37:g.29035453G>C	ENSP00000387164:p.Leu456Val					CPVL_ENST00000396276.3_Missense_Mutation_p.L456V|CPVL_ENST00000265394.5_Missense_Mutation_p.L456V	p.L456V			Q9H3G5	CPVL_HUMAN			17	2012	-			456					A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Missense_Mutation	SNP	ENST00000409850.1	37	c.1366C>G	CCDS5419.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.921|3.921	-0.018212|-0.018212	0.07681|0.07681	.|.	.|.	ENSG00000106066|ENSG00000106066	ENST00000265394;ENST00000396276;ENST00000455893;ENST00000409850|ENST00000432534	D;D;D;D|.	0.85484|.	-1.99;-1.99;-1.99;-1.99|.	6.17|6.17	-0.216|-0.216	0.13153|0.13153	.|.	0.655198|.	0.15331|.	N|.	0.268026|.	T|T	0.18551|0.18551	0.0445|0.0445	N|N	0.20610|0.20610	0.595|0.595	0.09310|0.09310	N|N	0.999994|0.999994	P|.	0.35527|.	0.507|.	B|.	0.37550|.	0.253|.	T|T	0.23013|0.23013	-1.0200|-1.0200	10|5	0.51188|.	T|.	0.08|.	-11.1736|-11.1736	1.561|1.561	0.02595|0.02595	0.1713:0.1803:0.4249:0.2235|0.1713:0.1803:0.4249:0.2235	.|.	456|.	Q9H3G5|.	CPVL_HUMAN|.	V|C	456;456;121;456|159	ENSP00000265394:L456V;ENSP00000379572:L456V;ENSP00000403580:L121V;ENSP00000387164:L456V|.	ENSP00000265394:L456V|.	L|S	-|-	1|2	2|0	CPVL|CPVL	29001978|29001978	0.877000|0.877000	0.30153|0.30153	0.993000|0.993000	0.49108|0.49108	0.993000|0.993000	0.82548|0.82548	0.122000|0.122000	0.15687|0.15687	-0.044000|-0.044000	0.13491|0.13491	0.655000|0.655000	0.94253|0.94253	CTG|TCT		0.343	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1	NM_019029		4	35	0	0	0	0.000248	0	4	35				
KLHDC7A	127707	broad.mit.edu	37	1	18809462	18809462	+	Missense_Mutation	SNP	G	G	A	rs202037108		TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr1:18809462G>A	ENST00000400664.1	+	1	2039	c.1987G>A	c.(1987-1989)Ggg>Agg	p.G663R		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	663						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CGGCCCCACCGGGGGCAGCAA	0.677																																						ENST00000400664.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(1987-1989)Ggg>Agg		kelch domain containing 7A																																				SO:0001583	missense	127707					integral to membrane		g.chr1:18809462G>A	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.1987G>A	1.37:g.18809462G>A	ENSP00000383505:p.Gly663Arg						p.G663R	NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	2039	+		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	663					Q8N8W6	Missense_Mutation	SNP	ENST00000400664.1	37	c.1987G>A	CCDS185.2	.	.	.	.	.	.	.	.	.	.	G	14.77	2.635574	0.47049	.	.	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.16743	2.32	4.68	3.76	0.43208	Kelch-type beta propeller (1);	0.315080	0.29594	N	0.011704	T	0.23410	0.0566	L	0.51422	1.61	0.09310	N	1	D;D	0.63046	0.992;0.992	P;P	0.53185	0.72;0.72	T	0.04781	-1.0927	10	0.48119	T	0.1	.	7.882	0.29627	0.1901:0.0:0.8099:0.0	.	600;663	A7E2V3;Q5VTJ3	.;KLD7A_HUMAN	R	663;600	ENSP00000383505:G663R	ENSP00000383505:G663R	G	+	1	0	KLHDC7A	18682049	0.000000	0.05858	0.025000	0.17156	0.904000	0.53231	0.550000	0.23345	0.943000	0.37553	0.561000	0.74099	GGG		0.677	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		11	27	0	0	0	0.008291	0	11	27				
RASA3	22821	broad.mit.edu	37	13	114817592	114817592	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr13:114817592C>T	ENST00000334062.7	-	3	333	c.212G>A	c.(211-213)cGg>cAg	p.R71Q	RASA3_ENST00000542651.1_Missense_Mutation_p.R71Q|RASA3_ENST00000389544.4_Missense_Mutation_p.R39Q	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	71	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			ACGAAAGCTCCGAGGAATTTC	0.488																																						ENST00000334062.7																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47						c.(211-213)cGg>cAg		RAS p21 protein activator 3							89.0	83.0	85.0					13																	114817592		2203	4299	6502	SO:0001583	missense	22821				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity	g.chr13:114817592C>T		CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"""Pleckstrin homology (PH) domain containing"""	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.212G>A	13.37:g.114817592C>T	ENSP00000335029:p.Arg71Gln					RASA3_ENST00000542651.1_Missense_Mutation_p.R71Q|RASA3_ENST00000389544.4_Missense_Mutation_p.R39Q	p.R71Q	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.128)		3	333	-	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	71			C2 1.		A6NL15|F8W6X8|Q8IUY2	Missense_Mutation	SNP	ENST00000334062.7	37	c.212G>A	CCDS32016.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.669797	0.88348	.	.	ENSG00000185989	ENST00000334062;ENST00000389544;ENST00000542651	T;T;T	0.69040	-0.37;-0.37;-0.37	4.96	4.96	0.65561	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.134366	0.49916	D	0.000122	T	0.79499	0.4456	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.79329	-0.1848	9	.	.	.	.	17.0045	0.86389	0.0:1.0:0.0:0.0	.	71	Q14644	RASA3_HUMAN	Q	71;39;71	ENSP00000335029:R71Q;ENSP00000374195:R39Q;ENSP00000439008:R71Q	.	R	-	2	0	RASA3	113835694	1.000000	0.71417	0.993000	0.49108	0.470000	0.32858	6.528000	0.73807	2.291000	0.77112	0.563000	0.77884	CGG		0.488	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045957.2	NM_007368		7	28	0	0	0	0.003080	0	7	28				
DPYD	1806	broad.mit.edu	37	1	98039345	98039345	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr1:98039345G>A	ENST00000370192.3	-	11	1410	c.1310C>T	c.(1309-1311)gCc>gTc	p.A437V		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	437					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)	p.A437V(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	TGAACCAAAGGCACTGATGAC	0.418																																						ENST00000370192.3																			1	Substitution - Missense(1)	p.A437V(1)	large_intestine(1)	NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83						c.(1309-1311)gCc>gTc		dihydropyrimidine dehydrogenase	Capecitabine(DB01101)|Enfuvirtide(DB00109)						219.0	187.0	198.0					1																	98039345		2203	4300	6503	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:98039345G>A	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.1310C>T	1.37:g.98039345G>A	ENSP00000359211:p.Ala437Val						p.A437V	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	11	1410	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	437					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.1310C>T	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	G	32	5.136431	0.94517	.	.	ENSG00000188641	ENST00000370192	D	0.91407	-2.84	5.81	5.81	0.92471	.	0.160320	0.56097	D	0.000036	D	0.97093	0.9050	H	0.99312	4.51	0.80722	D	1	D	0.58970	0.984	P	0.58331	0.837	D	0.98327	1.0531	10	0.87932	D	0	-5.1766	17.8525	0.88751	0.0:0.0:1.0:0.0	.	437	Q12882	DPYD_HUMAN	V	437	ENSP00000359211:A437V	ENSP00000359211:A437V	A	-	2	0	DPYD	97811933	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.402000	0.97298	2.737000	0.93849	0.650000	0.86243	GCC		0.418	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		18	109	0	0	0	0.007413	0	18	109				
TM7SF2	7108	broad.mit.edu	37	11	64883409	64883409	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr11:64883409G>A	ENST00000279263.7	+	10	1303	c.1141G>A	c.(1141-1143)Gcg>Acg	p.A381T	TM7SF2_ENST00000345348.5_Missense_Mutation_p.A354T|TM7SF2_ENST00000540748.1_Missense_Mutation_p.A265T|AP003068.12_ENST00000527789.1_RNA	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	381					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	delta14-sterol reductase activity (GO:0050613)			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTACTTCACCGCGCTGCTGGT	0.647																																						ENST00000279263.7																			0				lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1141-1143)Gcg>Acg		transmembrane 7 superfamily member 2							48.0	54.0	52.0					11																	64883409		2087	4207	6294	SO:0001583	missense	7108				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity	g.chr11:64883409G>A	BC012857	CCDS41669.1, CCDS60846.1	11q13.1	2013-05-23			ENSG00000149809	ENSG00000149809	1.3.1.70		11863	protein-coding gene	gene with protein product	"""delta(14)-sterol reductase"""	603414				9615229, 9286704	Standard	NM_003273		Approved	ANG1, DHCR14A, NET47	uc001oct.4	O76062	OTTHUMG00000165603	ENST00000279263.7:c.1141G>A	11.37:g.64883409G>A	ENSP00000279263:p.Ala381Thr					TM7SF2_ENST00000345348.5_Missense_Mutation_p.A354T|TM7SF2_ENST00000540748.1_Missense_Mutation_p.A265T	p.A381T	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN			10	1303	+			381					A8K4H0|O95982|Q8IY06|Q96E64|Q96GZ1	Missense_Mutation	SNP	ENST00000279263.7	37	c.1141G>A	CCDS41669.1	.	.	.	.	.	.	.	.	.	.	G	9.532	1.111076	0.20714	.	.	ENSG00000149809	ENST00000279263;ENST00000540748;ENST00000345348;ENST00000527968	D;D;D;D	0.97831	-4.56;-4.56;-4.56;-4.56	5.44	4.46	0.54185	.	0.330452	0.32134	N	0.006531	D	0.91700	0.7376	N	0.10645	0.015	0.09310	N	1	B;B;B	0.29612	0.05;0.212;0.251	B;B;B	0.20184	0.016;0.024;0.028	D	0.85099	0.0956	10	0.46703	T	0.11	-2.9226	10.9646	0.47406	0.0967:0.0:0.9033:0.0	.	265;354;381	F5GYV3;O76062-2;O76062	.;.;ERG24_HUMAN	T	381;265;354;172	ENSP00000279263:A381T;ENSP00000441215:A265T;ENSP00000329520:A354T;ENSP00000431685:A172T	ENSP00000279263:A381T	A	+	1	0	TM7SF2	64639985	0.002000	0.14202	0.277000	0.24703	0.125000	0.20455	0.416000	0.21198	2.835000	0.97688	0.591000	0.81541	GCG		0.647	TM7SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385234.1	NM_003273		13	43	0	0	0	0.001855	0	13	43				
LIX1L	128077	broad.mit.edu	37	1	145498680	145498680	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr1:145498680C>T	ENST00000369308.3	+	6	990	c.916C>T	c.(916-918)Cga>Tga	p.R306*	RP11-315I20.1_ENST00000448561.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA|RP11-315I20.1_ENST00000421764.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000437797.1_RNA|RP11-315I20.1_ENST00000599147.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000595494.1_RNA|RP11-315I20.1_ENST00000599626.1_RNA|RP11-315I20.1_ENST00000601726.1_RNA	NM_153713.1	NP_714924.1	Q8IVB5	LIX1L_HUMAN	Lix1 homolog (chicken) like	306										large_intestine(4)|lung(6)|ovary(2)|skin(1)	13	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGATGAAGCCCGACTGGCAGG	0.587																																						ENST00000369308.3																			0				large_intestine(4)|lung(6)|ovary(2)|skin(1)	13						c.(916-918)Cga>Tga		Lix1 homolog (mouse)-like							46.0	48.0	47.0					1																	145498680		2203	4300	6503	SO:0001587	stop_gained	128077							g.chr1:145498680C>T	AK128733	CCDS72873.1	1q21.1	2014-07-15	2014-07-15		ENSG00000152022	ENSG00000271601			28715	protein-coding gene	gene with protein product			"""Lix1 homolog (mouse) like"", ""Lix1 homolog (chicken)-like"""			12477932	Standard	NM_153713		Approved	MGC46719	uc001enr.3	Q8IVB5	OTTHUMG00000013741	ENST00000369308.3:c.916C>T	1.37:g.145498680C>T	ENSP00000358314:p.Arg306*					RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000599626.1_RNA|RP11-315I20.1_ENST00000601726.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA|RP11-315I20.1_ENST00000421764.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000599147.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000595494.1_RNA|RP11-315I20.1_ENST00000437797.1_RNA|RP11-315I20.1_ENST00000448561.1_RNA	p.R306*	NM_153713.1	NP_714924.1	Q8IVB5	LIX1L_HUMAN			6	990	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		306					Q6AI36	Nonsense_Mutation	SNP	ENST00000369308.3	37	c.916C>T	CCDS915.1	.	.	.	.	.	.	.	.	.	.	C	32	5.143622	0.94603	.	.	ENSG00000152022	ENST00000369308;ENST00000449167	.	.	.	5.31	2.4	0.29515	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.873	7.8863	0.29653	0.2836:0.6394:0.0:0.077	.	.	.	.	X	306;253	.	ENSP00000358314:R306X	R	+	1	2	LIX1L	144210037	0.998000	0.40836	0.979000	0.43373	0.985000	0.73830	1.309000	0.33539	0.365000	0.24400	0.563000	0.77884	CGA		0.587	LIX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038513.1	NM_153713		10	57	0	0	0	0.000978	0	10	57				
DCHS2	54798	broad.mit.edu	37	4	155157874	155157874	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr4:155157874G>A	ENST00000357232.4	-	25	6564	c.6565C>T	c.(6565-6567)Cca>Tca	p.P2189S		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2189	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)		GAACTCAATGGAGGGCAGCCA	0.463																																						ENST00000357232.3																			0				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						c.(6565-6567)Cca>Tca		dachsous cadherin-related 2							56.0	57.0	56.0					4																	155157874		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155157874G>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.6565C>T	4.37:g.155157874G>A	ENSP00000349768:p.Pro2189Ser						p.P2189S	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	6564	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2189			Cadherin 19.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.6565C>T	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.236721	0.39498	.	.	ENSG00000197410	ENST00000357232	T	0.55413	0.52	6.04	5.2	0.72013	Cadherin (4);Cadherin-like (1);	0.079660	0.52532	D	0.000067	T	0.49558	0.1564	L	0.45581	1.43	0.80722	D	1	P	0.48407	0.91	P	0.46237	0.508	T	0.44559	-0.9320	10	0.30854	T	0.27	.	11.2575	0.49063	0.0731:0.1293:0.7976:0.0	.	2189	Q6V1P9	PCD23_HUMAN	S	2189	ENSP00000349768:P2189S	ENSP00000349768:P2189S	P	-	1	0	DCHS2	155377324	1.000000	0.71417	0.994000	0.49952	0.292000	0.27327	3.798000	0.55522	1.538000	0.49270	0.563000	0.77884	CCA		0.463	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		13	29	0	0	0	0.001368	0	13	29				
ABCB4	5244	broad.mit.edu	37	7	87035604	87035604	+	Splice_Site	SNP	G	G	A	rs564031377		TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr7:87035604G>A	ENST00000265723.4	-	26	3618	c.3507C>T	c.(3505-3507)caC>caT	p.H1169H	ABCB4_ENST00000359206.3_Splice_Site_p.H1162H|ABCB4_ENST00000358400.3_Splice_Site_p.H1115H|ABCB4_ENST00000545634.1_Splice_Site_p.H1162H|ABCB4_ENST00000453593.1_Splice_Site_p.H1115H	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	1169	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	TTTAACTTACGTGGGGTAACG	0.393													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21414	0.0		0.0	False		,,,				2504	0.0					ENST00000265723.4																			0				breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.e26+1		ATP-binding cassette, sub-family B (MDR/TAP), member 4							124.0	118.0	120.0					7																	87035604		2203	4300	6503	SO:0001630	splice_region_variant	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87035604G>A	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.3507+1C>T	7.37:g.87035604G>A						ABCB4_ENST00000359206.3_Splice_Site_p.H1162_splice|ABCB4_ENST00000358400.3_Splice_Site_p.H1115_splice|ABCB4_ENST00000545634.1_Splice_Site_p.H1162_splice|ABCB4_ENST00000453593.1_Splice_Site_p.H1115_splice	p.H1169_splice	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN			26	3618	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		1169			ABC transporter 2.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Splice_Site	SNP	ENST00000265723.4	37	c.3507_splice	CCDS5606.1																																																																																				0.393	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443	Silent	19	175	0	0	0	0.008871	0	19	175				
BTN1A1	696	broad.mit.edu	37	6	26509261	26509261	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr6:26509261G>C	ENST00000244513.6	+	7	1506	c.1440G>C	c.(1438-1440)gaG>gaC	p.E480D		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	480						extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						ATGGGCCTGAGAGGGTCACAG	0.552																																						ENST00000244513.6																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						c.(1438-1440)gaG>gaC		butyrophilin, subfamily 1, member A1							83.0	81.0	82.0					6																	26509261		2203	4300	6503	SO:0001583	missense	696					extracellular region|integral to plasma membrane	receptor activity	g.chr6:26509261G>C	U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.1440G>C	6.37:g.26509261G>C	ENSP00000244513:p.Glu480Asp						p.E480D	NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN			7	1506	+			480					Q4VAN3|Q4VAN4|Q9H458	Missense_Mutation	SNP	ENST00000244513.6	37	c.1440G>C	CCDS4614.1	.	.	.	.	.	.	.	.	.	.	G	2.170	-0.390047	0.04932	.	.	ENSG00000124557	ENST00000244513	T	0.37752	1.18	5.31	1.1	0.20463	.	0.317621	0.27433	N	0.019392	T	0.06872	0.0175	N	0.20986	0.625	0.23023	N	0.998411	B	0.13145	0.007	B	0.09377	0.004	T	0.24261	-1.0165	10	0.48119	T	0.1	.	1.6685	0.02807	0.1827:0.1528:0.4879:0.1766	.	480	Q13410	BT1A1_HUMAN	D	480	ENSP00000244513:E480D	ENSP00000244513:E480D	E	+	3	2	BTN1A1	26617240	0.000000	0.05858	0.082000	0.20525	0.063000	0.16089	-0.775000	0.04679	0.345000	0.23873	-0.137000	0.14449	GAG		0.552	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043776.1	NM_001732		14	54	0	0	0	0.001855	0	14	54				
STK24	8428	broad.mit.edu	37	13	99171636	99171636	+	Missense_Mutation	SNP	C	C	T	rs147189846		TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr13:99171636C>T	ENST00000376547.3	-	2	315	c.170G>A	c.(169-171)cGg>cAg	p.R57Q	STK24_ENST00000481288.1_5'UTR|STK24_ENST00000539966.1_Missense_Mutation_p.R45Q|STK24_ENST00000397517.2_Missense_Mutation_p.R45Q	NM_003576.3	NP_003567.2	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24	57	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of cell migration (GO:0030336)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of axon regeneration (GO:0048679)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TTTCTGAGTCCGATTGTCAAT	0.428													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20391	0.0		0.0	False		,,,				2504	0.0					ENST00000397517.2																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17						c.(133-135)cGg>cAg		serine/threonine kinase 24							248.0	237.0	240.0					13																	99171636		2203	4300	6503	SO:0001583	missense	8428				cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr13:99171636C>T	AF024636	CCDS9488.1, CCDS32001.1, CCDS66573.1	13q31.2-q32.3	2010-06-25	2010-06-25		ENSG00000102572	ENSG00000102572			11403	protein-coding gene	gene with protein product	"""STE20-like kinase 3"", ""sterile 20-like kinase 3"""	604984	"""serine/threonine kinase 24 (Ste20, yeast homolog)"""			9353338, 10644707	Standard	NM_003576		Approved	MST-3, MST3, MST3B, STK3, STE20	uc001vnn.1	Q9Y6E0	OTTHUMG00000017250	ENST00000376547.3:c.170G>A	13.37:g.99171636C>T	ENSP00000365730:p.Arg57Gln					STK24_ENST00000376547.3_Missense_Mutation_p.R57Q|STK24_ENST00000539966.1_Missense_Mutation_p.R45Q|STK24_ENST00000481288.1_5'UTR	p.R45Q	NM_001032296.2	NP_001027467.2	Q9Y6E0	STK24_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		2	210	-	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		57			Protein kinase.		O14840|Q5JV92	Missense_Mutation	SNP	ENST00000376547.3	37	c.134G>A	CCDS9488.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	22.9	4.353297	0.82132	.	.	ENSG00000102572	ENST00000397517;ENST00000376547;ENST00000539966;ENST00000376533;ENST00000543110	T;T;T	0.64991	-0.13;-0.13;-0.13	5.54	5.54	0.83059	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	0.50627	U	0.000111	T	0.35970	0.0950	N	0.04162	-0.26	0.80722	D	1	B;B;B	0.34103	0.414;0.437;0.253	B;B;B	0.32677	0.071;0.15;0.127	T	0.49615	-0.8921	10	0.54805	T	0.06	.	19.48	0.95005	0.0:1.0:0.0:0.0	.	45;45;57	B4DR80;Q5U0E6;Q9Y6E0	.;.;STK24_HUMAN	Q	45;57;45;33;45	ENSP00000380651:R45Q;ENSP00000365730:R57Q;ENSP00000442539:R45Q	ENSP00000365716:R33Q	R	-	2	0	STK24	97969637	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.961000	0.63681	2.606000	0.88127	0.655000	0.94253	CGG		0.428	STK24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045549.2	NM_003576		27	121	0	0	0	0.005443	0	27	121				
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	lincRNA	SNP	A	A	G	rs201023195		TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr1:142713774A>G	ENST00000610091.1	-	0	1884																											CTTTTTCCACATTGTCATTTT	0.284																																						ENST00000369381.2																			0																																																			101927209							g.chr1:142713774A>G																													1.37:g.142713774A>G														0	831	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			3	82	0	0	0	0.000248	0	3	82				
TRPV4	59341	broad.mit.edu	37	12	110238456	110238456	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr12:110238456G>A	ENST00000418703.2	-	4	914	c.820C>T	c.(820-822)Cag>Tag	p.Q274*	TRPV4_ENST00000536838.1_Nonsense_Mutation_p.Q240*|TRPV4_ENST00000346520.2_Nonsense_Mutation_p.Q274*|TRPV4_ENST00000541794.1_Intron|TRPV4_ENST00000544971.1_Intron|TRPV4_ENST00000392719.2_Intron|TRPV4_ENST00000261740.2_Nonsense_Mutation_p.Q274*|TRPV4_ENST00000537083.1_Nonsense_Mutation_p.Q274*	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	274					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TCCTTGGGCTGGAAGAAGCGC	0.607																																						ENST00000418703.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						c.(820-822)Cag>Tag		transient receptor potential cation channel, subfamily V, member 4							61.0	53.0	55.0					12																	110238456		2203	4300	6503	SO:0001587	stop_gained	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110238456G>A	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.820C>T	12.37:g.110238456G>A	ENSP00000406191:p.Gln274*					TRPV4_ENST00000544971.1_Intron|TRPV4_ENST00000346520.2_Nonsense_Mutation_p.Q274*|TRPV4_ENST00000541794.1_Intron|TRPV4_ENST00000536838.1_Nonsense_Mutation_p.Q240*|TRPV4_ENST00000537083.1_Nonsense_Mutation_p.Q274*|TRPV4_ENST00000392719.2_Intron|TRPV4_ENST00000261740.2_Nonsense_Mutation_p.Q274*	p.Q274*	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN			4	914	-			274					B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Nonsense_Mutation	SNP	ENST00000418703.2	37	c.820C>T	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	G	37	6.284686	0.97440	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000346520;ENST00000537083;ENST00000536838	.	.	.	4.92	4.92	0.64577	.	0.108711	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-8.7846	17.0872	0.86614	0.0:0.0:1.0:0.0	.	.	.	.	X	274;274;274;274;240	.	ENSP00000261740:Q274X	Q	-	1	0	TRPV4	108722839	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.662000	0.46766	2.445000	0.82738	0.655000	0.94253	CAG		0.607	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		6	45	0	0	0	0.001168	0	6	45				
TRIP13	9319	broad.mit.edu	37	5	908529	908529	+	Silent	SNP	C	C	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr5:908529C>T	ENST00000166345.3	+	9	1175	c.819C>T	c.(817-819)gcC>gcT	p.A273A		NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	273					double-strand break repair (GO:0006302)|female meiosis I (GO:0007144)|male meiosis I (GO:0007141)|oocyte maturation (GO:0001556)|oogenesis (GO:0048477)|reciprocal meiotic recombination (GO:0007131)|regulation of RNA biosynthetic process (GO:2001141)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			CATCAGATGCCATCCGCGTGG	0.542																																						ENST00000166345.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18						c.(817-819)gcC>gcT		thyroid hormone receptor interactor 13							79.0	80.0	80.0					5																	908529		2203	4300	6503	SO:0001819	synonymous_variant	9319				double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity	g.chr5:908529C>T	L40384	CCDS3858.1	5p15	2010-04-21			ENSG00000071539	ENSG00000071539		"""ATPases / AAA-type"""	12307	protein-coding gene	gene with protein product	"""thyroid receptor interacting protein 13"""	604507				7776974	Standard	NM_004237		Approved	16E1BP	uc003jbr.3	Q15645	OTTHUMG00000090349	ENST00000166345.3:c.819C>T	5.37:g.908529C>T							p.A273A	NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)		9	1175	+			273					C9K0T3|D3DTC0|O15324	Silent	SNP	ENST00000166345.3	37	c.819C>T	CCDS3858.1																																																																																				0.542	TRIP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206721.2	NM_004237		13	73	0	0	0	0.001855	0	13	73				
CMYA5	202333	broad.mit.edu	37	5	79028659	79028659	+	Silent	SNP	T	T	C			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr5:79028659T>C	ENST00000446378.2	+	2	4102	c.4071T>C	c.(4069-4071)tcT>tcC	p.S1357S		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1357					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CTACAGCATCTGTAACTAAGC	0.373																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(4069-4071)tcT>tcC		cardiomyopathy associated 5							40.0	39.0	39.0					5																	79028659		1854	4086	5940	SO:0001819	synonymous_variant	202333					perinuclear region of cytoplasm		g.chr5:79028659T>C	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.4071T>C	5.37:g.79028659T>C							p.S1357S	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	4102	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	1357					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	ENST00000446378.2	37	c.4071T>C	CCDS47238.1																																																																																				0.373	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		9	33	0	0	0	0.000978	0	9	33				
FAM135B	51059	broad.mit.edu	37	8	139165105	139165105	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr8:139165105C>T	ENST00000395297.1	-	13	1783	c.1613G>A	c.(1612-1614)aGa>aAa	p.R538K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	538										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGGACTCCTTCTAGAAGTATC	0.502										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(1612-1614)aGa>aAa		family with sequence similarity 135, member B							80.0	78.0	79.0					8																	139165105		1946	4147	6093	SO:0001583	missense	51059							g.chr8:139165105C>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1613G>A	8.37:g.139165105C>T	ENSP00000378710:p.Arg538Lys	HNSCC(54;0.14)					p.R538K	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	1783	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		538					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.1613G>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	9.984	1.228817	0.22542	.	.	ENSG00000147724	ENST00000395297	T	0.13538	2.58	5.45	1.6	0.23607	.	1.731460	0.02332	N	0.073993	T	0.11239	0.0274	L	0.51422	1.61	0.09310	N	1	B;B;B	0.24368	0.102;0.102;0.001	B;B;B	0.18561	0.022;0.022;0.003	T	0.28004	-1.0057	10	0.06625	T	0.88	-0.3037	2.0248	0.03516	0.1367:0.3972:0.2675:0.1987	.	538;538;538	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	K	538	ENSP00000378710:R538K	ENSP00000276737:R538K	R	-	2	0	FAM135B	139234287	0.000000	0.05858	0.001000	0.08648	0.253000	0.25986	0.538000	0.23160	0.370000	0.24538	-0.140000	0.14226	AGA		0.502	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		8	91	0	0	0	0.003080	0	8	91				
MUC2	4583	broad.mit.edu	37	11	1078277	1078277	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr11:1078277C>G	ENST00000441003.2	+	5	591	c.564C>G	c.(562-564)ttC>ttG	p.F188L	MUC2_ENST00000359061.5_Missense_Mutation_p.F188L	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	188	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|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;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GCGTGCTCTTCAGTCCCCTGG	0.662																																						ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(562-564)ttC>ttG		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						63.0	73.0	70.0					11																	1078277		2028	4172	6200	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1078277C>G	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.564C>G	11.37:g.1078277C>G	ENSP00000415183:p.Phe188Leu					MUC2_ENST00000359061.5_Missense_Mutation_p.F188L	p.F188L	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	5	591	+		all_cancers(49;1.08e-07)|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;0.191)	188			VWFD 1.		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.564C>G		.	.	.	.	.	.	.	.	.	.	C	10.53	1.374945	0.24857	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.10860	2.88;2.83	3.49	1.47	0.22746	.	0.415821	0.21064	N	0.080771	T	0.02494	0.0076	N	0.00926	-1.1	0.27520	N	0.951418	B	0.17465	0.022	B	0.16722	0.016	T	0.45906	-0.9229	10	0.02654	T	1	.	7.5372	0.27717	0.0:0.7349:0.1676:0.0975	.	188	E7EUV1	.	L	188	ENSP00000415183:F188L;ENSP00000351956:F188L	ENSP00000351956:F188L	F	+	3	2	MUC2	1068277	0.998000	0.40836	0.043000	0.18650	0.108000	0.19459	1.511000	0.35801	0.147000	0.19030	0.511000	0.50034	TTC		0.662	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		10	53	0	0	0	0.000978	0	10	53				
TBX18	9096	broad.mit.edu	37	6	85472362	85472362	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr6:85472362G>C	ENST00000369663.5	-	2	734	c.397C>G	c.(397-399)Ctg>Gtg	p.L133V	TBX18_ENST00000606521.1_5'UTR|TBX18_ENST00000606784.1_5'UTR	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	133					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GGCGAGGGCAGAGGGGTCCCG	0.697																																						ENST00000369663.5																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61						c.(397-399)Ctg>Gtg		T-box 18							30.0	36.0	34.0					6																	85472362		2200	4288	6488	SO:0001583	missense	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85472362G>C	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.397C>G	6.37:g.85472362G>C	ENSP00000358677:p.Leu133Val					TBX18_ENST00000606784.1_5'UTR|TBX18_ENST00000606521.1_5'UTR	p.L133V	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	2	734	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	133					A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP	ENST00000369663.5	37	c.397C>G	CCDS34495.1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.674252	0.29693	.	.	ENSG00000112837	ENST00000416980;ENST00000369663	D	0.86956	-2.19	5.22	4.33	0.51752	.	0.539056	0.19181	N	0.120698	T	0.57140	0.2033	N	0.08118	0	0.30221	N	0.7968	P	0.37466	0.596	B	0.26770	0.073	T	0.56956	-0.7893	10	0.27082	T	0.32	.	14.228	0.65873	0.0729:0.0:0.9271:0.0	.	133	O95935	TBX18_HUMAN	V	48;133	ENSP00000358677:L133V	ENSP00000358677:L133V	L	-	1	2	TBX18	85529081	0.000000	0.05858	1.000000	0.80357	0.342000	0.28953	0.332000	0.19751	2.720000	0.93068	0.561000	0.74099	CTG		0.697	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		10	57	0	0	0	0.008291	0	10	57				
DSEL	92126	broad.mit.edu	37	18	65180897	65180897	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr18:65180897C>A	ENST00000310045.7	-	2	2452	c.979G>T	c.(979-981)Gcc>Tcc	p.A327S	RP11-638L3.1_ENST00000583687.1_lincRNA|CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	317					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AAAAGGGTGGCATAATAGAAC	0.383																																						ENST00000310045.7																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(979-981)Gcc>Tcc		dermatan sulfate epimerase-like							71.0	76.0	74.0					18																	65180897		2203	4300	6503	SO:0001583	missense	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65180897C>A	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.979G>T	18.37:g.65180897C>A	ENSP00000310565:p.Ala327Ser					CTD-2541J13.2_ENST00000583493.1_RNA	p.A327S	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN			2	2452	-		Esophageal squamous(42;0.129)	317					Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	c.979G>T	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.279514	0.23307	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.23348	1.91	4.9	4.03	0.46877	.	0.000000	0.85682	U	0.000000	T	0.15998	0.0385	N	0.25890	0.77	0.42411	D	0.992605	B	0.13594	0.008	B	0.15052	0.012	T	0.07947	-1.0746	10	0.22109	T	0.4	-10.3356	8.5291	0.33324	0.1513:0.7708:0.0:0.0778	.	317	Q8IZU8	DSEL_HUMAN	S	327;317	ENSP00000310565:A327S	ENSP00000310565:A327S	A	-	1	0	DSEL	63331877	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.060000	0.49955	1.225000	0.43566	0.563000	0.77884	GCC		0.383	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		15	73	1	0	0.000219431	0.002450	0.000390459	15	73				
E4F1	1877	broad.mit.edu	37	16	2282237	2282237	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr16:2282237G>A	ENST00000301727.4	+	4	529	c.481G>A	c.(481-483)Gag>Aag	p.E161K	E4F1_ENST00000565090.1_Missense_Mutation_p.E161K|E4F1_ENST00000564139.1_Missense_Mutation_p.E161K	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	161					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|mitotic cell cycle arrest (GO:0071850)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell cycle process (GO:0010564)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle, embryonic (GO:0009794)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			ovary(1)	1						TGAGATGGCCGAGGCCCCGGG	0.662																																						ENST00000301727.4																			0				ovary(1)	1						c.(481-483)Gag>Aag		E4F transcription factor 1							48.0	59.0	55.0					16																	2282237		2197	4298	6495	SO:0001583	missense	1877				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr16:2282237G>A	U87269	CCDS32370.1, CCDS73809.1, CCDS73810.1	16p13.3	2013-01-08				ENSG00000167967		"""Zinc fingers, C2H2-type"""	3121	protein-coding gene	gene with protein product		603022				9763670, 8828041	Standard	XM_005255155		Approved	E4F	uc002cpm.3	Q66K89		ENST00000301727.4:c.481G>A	16.37:g.2282237G>A	ENSP00000301727:p.Glu161Lys					E4F1_ENST00000564139.1_Missense_Mutation_p.E161K|E4F1_ENST00000565090.1_Missense_Mutation_p.E161K	p.E161K	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN			4	529	+			161					A8K2R4|O00146	Missense_Mutation	SNP	ENST00000301727.4	37	c.481G>A	CCDS32370.1	.	.	.	.	.	.	.	.	.	.	g	11.94	1.787312	0.31593	.	.	ENSG00000167967	ENST00000301727	T	0.06528	3.29	5.33	4.38	0.52667	.	0.379312	0.31268	N	0.007945	T	0.20170	0.0485	L	0.53249	1.67	0.09310	N	1	P;B;D	0.89917	0.552;0.127;1.0	B;B;D	0.73708	0.06;0.024;0.981	T	0.02004	-1.1231	10	0.87932	D	0	-24.6486	14.9235	0.70859	0.0:0.1441:0.8559:0.0	.	157;161;161	E9PFZ8;E7EMF7;Q66K89	.;.;E4F1_HUMAN	K	161	ENSP00000301727:E161K	ENSP00000301727:E161K	E	+	1	0	E4F1	2222238	1.000000	0.71417	0.750000	0.31169	0.012000	0.07955	5.180000	0.65048	1.271000	0.44313	-0.217000	0.12591	GAG		0.662	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435225.1	NM_004424		11	75	0	0	0	0.001855	0	11	75				
KIAA0368	23392	broad.mit.edu	37	9	114184479	114184479	+	Splice_Site	SNP	G	G	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr9:114184479G>A	ENST00000338205.5	-	13	1486	c.1267C>T	c.(1267-1269)Cgg>Tgg	p.R423W	KIAA0368_ENST00000259335.4_Splice_Site_p.R601W			Q5VYK3	ECM29_HUMAN	KIAA0368	429					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						TGTGGCATCCGACTGCAAAAG	0.353																																						ENST00000259335.4																			0				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						c.e15-1		KIAA0368							65.0	63.0	64.0					9																	114184479		1826	4089	5915	SO:0001630	splice_region_variant	23392							g.chr9:114184479G>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.1266-1C>T	9.37:g.114184479G>A						KIAA0368_ENST00000338205.5_Splice_Site_p.R423_splice	p.R601_splice	NM_001080398.1	NP_001073867.1					15	1800	-								O15074|Q8WU82	Splice_Site	SNP	ENST00000338205.5	37	c.1799_splice		.	.	.	.	.	.	.	.	.	.	G	28.4	4.920313	0.92249	.	.	ENSG00000136813	ENST00000338205;ENST00000259335	T	0.52526	0.66	4.96	4.96	0.65561	Armadillo-like helical (1);Armadillo-type fold (1);	0.071451	0.64402	D	0.000019	T	0.66237	0.2769	M	0.67397	2.05	0.80722	D	1	D	0.76494	0.999	D	0.62955	0.909	T	0.70103	-0.4964	10	0.72032	D	0.01	.	18.5773	0.91159	0.0:0.0:1.0:0.0	.	429	Q5VYK3	ECM29_HUMAN	W	423;601	ENSP00000259335:R601W	ENSP00000259335:R601W	R	-	1	2	KIAA0368	113224300	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	9.342000	0.97044	2.467000	0.83353	0.557000	0.71058	CGG		0.353	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686	Missense_Mutation	14	56	0	0	0	0.002450	0	14	56				
PARP1	142	broad.mit.edu	37	1	226564992	226564992	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr1:226564992G>C	ENST00000366794.5	-	13	1901	c.1758C>G	c.(1756-1758)ttC>ttG	p.F586L		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	586					base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		CCCAGGACCTGAATATCCAAT	0.507								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														ENST00000366794.5																			0				breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44						c.(1756-1758)ttC>ttG	Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA	poly (ADP-ribose) polymerase 1							153.0	155.0	155.0					1																	226564992		2203	4300	6503	SO:0001583	missense	142				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	g.chr1:226564992G>C	BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.1758C>G	1.37:g.226564992G>C	ENSP00000355759:p.Phe586Leu						p.F586L	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN		GBM - Glioblastoma multiforme(131;0.0531)	13	1901	-	Breast(184;0.133)		586					B1ANJ4|Q8IUZ9	Missense_Mutation	SNP	ENST00000366794.5	37	c.1758C>G	CCDS1554.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186649	0.78789	.	.	ENSG00000143799	ENST00000366794	T	0.18016	2.24	5.31	3.03	0.35002	WGR domain (4);	0.000000	0.85682	D	0.000000	T	0.41949	0.1181	M	0.83118	2.625	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.46610	-0.9179	10	0.87932	D	0	.	11.2659	0.49110	0.1932:0.0:0.8068:0.0	.	586	P09874	PARP1_HUMAN	L	586	ENSP00000355759:F586L	ENSP00000355759:F586L	F	-	3	2	PARP1	224631615	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.225000	0.51246	1.373000	0.46208	0.650000	0.86243	TTC		0.507	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618		3	199	0	0	0	0.004672	0	3	199				
MS4A7	58475	broad.mit.edu	37	11	60161321	60161321	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr11:60161321G>A	ENST00000300184.3	+	7	906	c.710G>A	c.(709-711)cGg>cAg	p.R237Q	MS4A14_ENST00000395001.1_5'Flank|MS4A14_ENST00000531783.1_5'Flank|MS4A14_ENST00000395005.2_5'Flank|MS4A14_ENST00000300187.6_5'Flank|MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000358246.1_Missense_Mutation_p.R192Q|MS4A7_ENST00000530234.2_Intron|MS4A7_ENST00000534016.1_Missense_Mutation_p.R192Q	NM_021201.4|NM_206939.1	NP_067024.1|NP_996822.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	237						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						AGTTCTTCACGGTCTTGGATA	0.373																																						ENST00000358246.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						c.(574-576)cGg>cAg		membrane-spanning 4-domains, subfamily A, member 7							101.0	100.0	100.0					11																	60161321		2203	4300	6503	SO:0001583	missense	58475					integral to membrane	receptor activity	g.chr11:60161321G>A	AB026043	CCDS7985.1, CCDS7986.1	11q12	2008-03-25				ENSG00000166927			13378	protein-coding gene	gene with protein product		606502				11245982, 11401424	Standard	NM_021201		Approved	CD20L4, CFFM4, MS4A8	uc001npf.3	Q9GZW8		ENST00000300184.3:c.710G>A	11.37:g.60161321G>A	ENSP00000300184:p.Arg237Gln					MS4A7_ENST00000300184.3_Missense_Mutation_p.R237Q|MS4A7_ENST00000534016.1_Missense_Mutation_p.R192Q|MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000530234.2_Intron	p.R192Q	NM_206938.1|NM_206940.1	NP_996821.1|NP_996823.1	Q9GZW8	MS4A7_HUMAN			6	768	+			237					A6NP53|Q6IAG8	Missense_Mutation	SNP	ENST00000300184.3	37	c.575G>A	CCDS7985.1	.	.	.	.	.	.	.	.	.	.	G	7.348	0.622277	0.14193	.	.	ENSG00000166927	ENST00000300184;ENST00000358246;ENST00000534016	T;T;T	0.17213	3.05;2.29;2.29	3.58	-6.55	0.01854	.	13.363400	0.00777	N	0.001246	T	0.07369	0.0186	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	0.27191	-1.0081	10	0.12430	T	0.62	-18.0862	7.1042	0.25354	0.4651:0.0:0.4238:0.1112	.	192;237	Q9GZW8-2;Q9GZW8	.;MS4A7_HUMAN	Q	237;192;192	ENSP00000300184:R237Q;ENSP00000350983:R192Q;ENSP00000434637:R192Q	ENSP00000300184:R237Q	R	+	2	0	MS4A7	59917897	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.122000	0.10627	-1.935000	0.01049	-1.583000	0.00853	CGG		0.373	MS4A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394299.1			15	81	0	0	0	0.006122	0	15	81				
INMT	11185	broad.mit.edu	37	7	30791838	30791838	+	Silent	SNP	C	C	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr7:30791838C>T	ENST00000013222.5	+	1	88	c.72C>T	c.(70-72)taC>taT	p.Y24Y	INMT-FAM188B_ENST00000458257.1_Silent_p.Y24Y|INMT_ENST00000409539.1_Silent_p.Y24Y|INMT_ENST00000484180.1_Intron	NM_001199219.1|NM_006774.4	NP_001186148.1|NP_006765.4	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	24					amine metabolic process (GO:0009308)|methylation (GO:0032259)|response to toxic substance (GO:0009636)	cytosol (GO:0005829)	amine N-methyltransferase activity (GO:0030748)|thioether S-methyltransferase activity (GO:0004790)			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						TGGCTACTTACTACAGCTTCG	0.577																																						ENST00000458257.1																			0											c.(70-72)taC>taT									125.0	118.0	121.0					7																	30791838		2203	4300	6503	SO:0001819	synonymous_variant	100526825							g.chr7:30791838C>T		CCDS5430.1, CCDS56479.1	7p14.3	2011-08-30			ENSG00000241644	ENSG00000241644	2.1.1.49		6069	protein-coding gene	gene with protein product		604854				10552930	Standard	NM_001199219		Approved		uc003tbs.1	O95050	OTTHUMG00000167163	ENST00000013222.5:c.72C>T	7.37:g.30791838C>T						INMT_ENST00000484180.1_Intron|INMT_ENST00000013222.5_Silent_p.Y24Y|INMT_ENST00000409539.1_Silent_p.Y24Y	p.Y24Y							1	86	+								B8ZZ69|Q3KP49|Q9P1Y2|Q9UBY4|Q9UHQ0	Silent	SNP	ENST00000013222.5	37	c.72C>T	CCDS5430.1																																																																																				0.577	INMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214993.3	NM_006774		52	101	0	0	0	0.003610	0	52	101				
FLG	2312	broad.mit.edu	37	1	152282437	152282437	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr1:152282437C>G	ENST00000368799.1	-	3	4960	c.4925G>C	c.(4924-4926)aGt>aCt	p.S1642T	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1642	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGCCCATGACTGGCTCTATC	0.557									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(4924-4926)aGt>aCt		filaggrin							197.0	204.0	201.0					1																	152282437		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282437C>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4925G>C	1.37:g.152282437C>G	ENSP00000357789:p.Ser1642Thr					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.S1642T	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4960	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1642			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.4925G>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	3.489	-0.104242	0.06967	.	.	ENSG00000143631	ENST00000368799	T	0.00816	5.66	2.6	0.304	0.15796	.	.	.	.	.	T	0.00328	0.0010	L	0.29908	0.895	0.09310	N	1	P	0.38110	0.618	B	0.37780	0.258	T	0.39800	-0.9596	9	0.23302	T	0.38	.	8.2197	0.31534	0.0:0.5126:0.4873:0.0	.	1642	P20930	FILA_HUMAN	T	1642	ENSP00000357789:S1642T	ENSP00000357789:S1642T	S	-	2	0	FLG	150549061	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-1.467000	0.02352	-0.220000	0.09988	0.306000	0.20318	AGT		0.557	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		47	323	0	0	0	0.003610	0	47	323				
TP53	7157	broad.mit.edu	37	17	7578412	7578412	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr17:7578412A>C	ENST00000269305.4	-	5	707	c.518T>G	c.(517-519)gTg>gGg	p.V173G	TP53_ENST00000455263.2_Missense_Mutation_p.V173G|TP53_ENST00000420246.2_Missense_Mutation_p.V173G|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.V173G|TP53_ENST00000413465.2_Missense_Mutation_p.V173G|TP53_ENST00000359597.4_Missense_Mutation_p.V173G	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	173	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V173A(12)|p.0?(8)|p.V173G(6)|p.V173fs*7(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V173E(1)|p.V41fs*7(1)|p.H168fs*69(1)|p.E171fs*1(1)|p.V172_R174delVVR(1)|p.P151_V173del23(1)|p.V173fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V173W(1)|p.S149fs*72(1)|p.V80fs*7(1)|p.V172_E180delVVRRCPHHE(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)	GCAGCGCCTCACAACCTCCGT	0.662		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)	ENST00000420246.2		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"""		46	Substitution - Missense(20)|Deletion - Frameshift(13)|Whole gene deletion(8)|Deletion - In frame(5)	p.V173A(12)|p.0?(8)|p.V173G(6)|p.V173fs*7(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V173E(1)|p.V41fs*7(1)|p.H168fs*69(1)|p.E171fs*1(1)|p.V172_R174delVVR(1)|p.P151_V173del23(1)|p.V173fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V173W(1)|p.S149fs*72(1)|p.V80fs*7(1)|p.V172_E180delVVRRCPHHE(1)	large_intestine(9)|central_nervous_system(7)|bone(5)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|stomach(3)|biliary_tract(3)|oesophagus(3)|upper_aerodigestive_tract(2)|liver(2)|endometrium(1)|ovary(1)|prostate(1)|breast(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(517-519)gTg>gGg	Other conserved DNA damage response genes	tumor protein p53							51.0	51.0	51.0					17																	7578412		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578412A>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.518T>G	17.37:g.7578412A>C	ENSP00000269305:p.Val173Gly	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_ENST00000359597.4_Missense_Mutation_p.V173G|TP53_ENST00000445888.2_Missense_Mutation_p.V173G|TP53_ENST00000269305.4_Missense_Mutation_p.V173G|TP53_ENST00000455263.2_Missense_Mutation_p.V173G|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.V173G	p.V173G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	650	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	173		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.518T>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	17.13	3.311672	0.60414	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99861	-7.26;-7.26;-7.26;-7.26;-7.26;-7.26;-7.26;-7.26	5.59	2.07	0.26955	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99819	0.9920	M	0.92459	3.31	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;0.999;1.0;1.0;0.999;1.0;1.0	D	0.98609	1.0662	10	0.87932	D	0	-25.5548	3.5237	0.07752	0.6522:0.1396:0.0747:0.1336	.	134;173;173;80;173;173;173	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	G	173;173;173;173;173;173;162;80;41;80;41	ENSP00000410739:V173G;ENSP00000352610:V173G;ENSP00000269305:V173G;ENSP00000398846:V173G;ENSP00000391127:V173G;ENSP00000391478:V173G;ENSP00000425104:V41G;ENSP00000423862:V80G	ENSP00000269305:V173G	V	-	2	0	TP53	7519137	1.000000	0.71417	0.149000	0.22428	0.475000	0.33008	9.287000	0.95975	0.122000	0.18314	-0.256000	0.11100	GTG		0.662	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		32	35	0	0	0	0.002836	0	32	35				
DNAH2	146754	broad.mit.edu	37	17	7699949	7699949	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr17:7699949C>G	ENST00000572933.1	+	50	9302	c.7842C>G	c.(7840-7842)ttC>ttG	p.F2614L	DNAH2_ENST00000389173.2_Missense_Mutation_p.F2614L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2614	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ATTACCTCTTCAACCTTCGAG	0.572																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(7840-7842)ttC>ttG		dynein, axonemal, heavy chain 2							160.0	130.0	140.0					17																	7699949		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7699949C>G	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.7842C>G	17.37:g.7699949C>G	ENSP00000458355:p.Phe2614Leu					DNAH2_ENST00000389173.2_Missense_Mutation_p.F2614L	p.F2614L			Q9P225	DYH2_HUMAN			50	9302	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2614			AAA 3 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.7842C>G	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.747358	0.89663	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.45276	0.9	5.27	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.77384	0.4122	H	0.98786	4.33	0.80722	D	1	D	0.71674	0.998	D	0.76575	0.988	D	0.85919	0.1445	10	0.87932	D	0	.	12.8815	0.58020	0.0:0.9207:0.0:0.0793	.	2614	Q9P225	DYH2_HUMAN	L	2614	ENSP00000373825:F2614L	ENSP00000353818:F2614L	F	+	3	2	DNAH2	7640674	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.845000	0.48254	1.459000	0.47892	0.514000	0.50259	TTC		0.572	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		14	42	0	0	0	0.003163	0	14	42				
OCEL1	79629	broad.mit.edu	37	19	17337542	17337542	+	Missense_Mutation	SNP	C	C	T	rs368420288		TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr19:17337542C>T	ENST00000215061.4	+	2	154	c.110C>T	c.(109-111)gCc>gTc	p.A37V	OCEL1_ENST00000601576.1_3'UTR|OCEL1_ENST00000601529.1_Missense_Mutation_p.A37V|OCEL1_ENST00000597836.1_5'UTR	NM_024578.1	NP_078854.1	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	37	Pro-rich.									central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						GGACACGACGCCCCCCGCAGG	0.756																																						ENST00000215061.4																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						c.(109-111)gCc>gTc		occludin/ELL domain containing 1							4.0	6.0	5.0					19																	17337542		1784	3602	5386	SO:0001583	missense	79629							g.chr19:17337542C>T	BC029361	CCDS12351.1	19p13.11	2008-02-05				ENSG00000099330			26221	protein-coding gene	gene with protein product						12477932	Standard	NM_024578		Approved	FLJ22709	uc002nfp.3	Q9H607		ENST00000215061.4:c.110C>T	19.37:g.17337542C>T	ENSP00000215061:p.Ala37Val					OCEL1_ENST00000597836.1_5'UTR|OCEL1_ENST00000601529.1_Missense_Mutation_p.A37V|OCEL1_ENST00000601576.1_3'UTR	p.A37V	NM_024578.1	NP_078854.1	Q9H607	OCEL1_HUMAN			2	154	+			37			Pro-rich.			Missense_Mutation	SNP	ENST00000215061.4	37	c.110C>T	CCDS12351.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.667064	0.47677	.	.	ENSG00000099330	ENST00000215061	T	0.32272	1.46	3.01	0.824	0.18818	.	1.354340	0.05479	N	0.554472	T	0.19406	0.0466	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29088	-1.0023	10	0.52906	T	0.07	0.0731	7.1901	0.25821	0.0:0.7579:0.0:0.2421	.	37	Q9H607	OCEL1_HUMAN	V	37	ENSP00000215061:A37V	ENSP00000215061:A37V	A	+	2	0	OCEL1	17198542	0.000000	0.05858	0.000000	0.03702	0.212000	0.24457	0.364000	0.20325	0.316000	0.23135	-0.339000	0.08088	GCC		0.756	OCEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463307.1	NM_024578		13	6	0	0	0	0.002450	0	13	6				
BMS1	9790	broad.mit.edu	37	10	43318597	43318597	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr10:43318597A>G	ENST00000374518.5	+	20	3227	c.3164A>G	c.(3163-3165)aAa>aGa	p.K1055R		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1055					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GAAGTGGCCAAATTTGAAGGT	0.428																																						ENST00000374518.4																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(3163-3165)aAa>aGa		BMS1 ribosome biogenesis factor							76.0	80.0	79.0					10																	43318597		2203	4300	6503	SO:0001583	missense	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43318597A>G	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.3164A>G	10.37:g.43318597A>G	ENSP00000363642:p.Lys1055Arg						p.K1055R	NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN			20	3227	+			1055					Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	c.3164A>G	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	A	15.64	2.893074	0.52121	.	.	ENSG00000165733	ENST00000374518	T	0.18174	2.23	4.54	4.54	0.55810	Ribosome biogenesis protein BMS1/TSR1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.16642	0.0400	L	0.54965	1.715	0.48901	D	0.999724	B	0.10296	0.003	B	0.10450	0.005	T	0.05162	-1.0902	10	0.09590	T	0.72	.	14.2326	0.65903	1.0:0.0:0.0:0.0	.	1055	Q14692	BMS1_HUMAN	R	1055	ENSP00000363642:K1055R	ENSP00000363642:K1055R	K	+	2	0	BMS1	42638603	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.019000	0.70818	1.825000	0.53177	0.373000	0.22412	AAA		0.428	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		4	91	0	0	0	0.000248	0	4	91				
NEXN	91624	broad.mit.edu	37	1	78392542	78392542	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr1:78392542G>C	ENST00000334785.7	+	8	1013	c.829G>C	c.(829-831)Gag>Cag	p.E277Q	NEXN_ENST00000330010.8_Missense_Mutation_p.E213Q|NEXN_ENST00000457030.1_Missense_Mutation_p.E263Q	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		TTTAGAAGAAGAGAAGCGTGC	0.363																																						ENST00000330010.8																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(637-639)Gag>Cag		nexilin (F actin binding protein)							88.0	86.0	86.0					1																	78392542		1849	4102	5951	SO:0001583	missense	91624				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle	g.chr1:78392542G>C	AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"""Immunoglobulin superfamily / I-set domain containing"""	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.829G>C	1.37:g.78392542G>C	ENSP00000333938:p.Glu277Gln					NEXN_ENST00000457030.1_Missense_Mutation_p.E263Q|NEXN_ENST00000334785.7_Missense_Mutation_p.E277Q	p.E213Q	NM_001172309.1	NP_001165780.1	Q0ZGT2	NEXN_HUMAN		Colorectal(170;0.114)	7	934	+			277			Glu-rich.			Missense_Mutation	SNP	ENST00000334785.7	37	c.637G>C	CCDS41351.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.69|17.69	3.451691|3.451691	0.63290|0.63290	.|.	.|.	ENSG00000162614|ENSG00000162614	ENST00000401035;ENST00000457030;ENST00000330010;ENST00000334785;ENST00000440324|ENST00000342754	D;D;T;T;T|.	0.84516|.	-1.86;-1.59;-1.35;-0.64;-1.42|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.000000|.	0.49916|.	D|.	0.000124|.	T|T	0.65386|0.65386	0.2686|0.2686	L|L	0.52905|0.52905	1.665|1.665	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.998;0.999;0.998;0.998|.	T|T	0.61153|0.61153	-0.7120|-0.7120	10|5	0.35671|.	T|.	0.21|.	-15.2043|-15.2043	19.6747|19.6747	0.95926|0.95926	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	213;263;277;213|.	D3DQ79;Q0ZGT2-2;Q0ZGT2;B4DPZ7|.	.;.;NEXN_HUMAN;.|.	Q|N	213;263;213;277;263|176	ENSP00000383814:E213Q;ENSP00000388048:E263Q;ENSP00000327363:E213Q;ENSP00000333938:E277Q;ENSP00000411902:E263Q|.	ENSP00000327363:E213Q|.	E|K	+|+	1|3	0|2	NEXN|NEXN	78165130|78165130	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.261000|0.261000	0.26267|0.26267	8.915000|8.915000	0.92740|0.92740	2.642000|2.642000	0.89623|0.89623	0.655000|0.655000	0.94253|0.94253	GAG|AAG		0.363	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097549.1	NM_144573		13	67	0	0	0	0.001855	0	13	67				
HAND1	9421	broad.mit.edu	37	5	153855399	153855399	+	Silent	SNP	C	C	T	rs368908340		TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr5:153855399C>T	ENST00000231121.2	-	2	870	c.615G>A	c.(613-615)ccG>ccA	p.P205P		NM_004821.2	NP_004812.1	O96004	HAND1_HUMAN	heart and neural crest derivatives expressed 1	205					angiogenesis (GO:0001525)|blastocyst development (GO:0001824)|cardiac left ventricle formation (GO:0003218)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cartilage morphogenesis (GO:0060536)|embryonic heart tube development (GO:0035050)|embryonic heart tube formation (GO:0003144)|heart development (GO:0007507)|heart looping (GO:0001947)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)|trophoblast giant cell differentiation (GO:0060707)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			AGACTTGCTGCGGCCAGCCGG	0.632																																						ENST00000231121.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						c.(613-615)ccG>ccA		heart and neural crest derivatives expressed 1							27.0	31.0	29.0					5																	153855399		2203	4300	6503	SO:0001819	synonymous_variant	9421				angiogenesis|cardiac left ventricle formation|cardiac right ventricle formation|cardiac septum morphogenesis|heart looping|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|trophectodermal cell differentiation|ventricular cardiac muscle tissue morphogenesis	cytoplasm|nucleolus|nucleoplasm	bHLH transcription factor binding|DNA binding|protein homodimerization activity|transcription coactivator activity	g.chr5:153855399C>T	AF061756	CCDS4327.1	5q33	2013-05-21			ENSG00000113196	ENSG00000113196		"""Basic helix-loop-helix proteins"""	4807	protein-coding gene	gene with protein product		602406				9337404, 9931445	Standard	NM_004821		Approved	eHand, Thing1, Hxt, bHLHa27	uc003lvn.3	O96004	OTTHUMG00000130193	ENST00000231121.2:c.615G>A	5.37:g.153855399C>T							p.P205P	NM_004821.2	NP_004812.1	O96004	HAND1_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		2	870	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	205						Silent	SNP	ENST00000231121.2	37	c.615G>A	CCDS4327.1																																																																																				0.632	HAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252511.1	NM_004821		8	31	0	0	0	0.004482	0	8	31				
ZFX	7543	broad.mit.edu	37	X	24228854	24228854	+	Silent	SNP	G	G	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chrX:24228854G>A	ENST00000379177.1	+	11	2206	c.1779G>A	c.(1777-1779)acG>acA	p.T593T	ZFX_ENST00000304543.5_Silent_p.T593T|ZFX_ENST00000338565.3_Silent_p.T543T|ZFX_ENST00000539115.1_Silent_p.T364T|ZFX_ENST00000540034.1_Silent_p.T632T|ZFX_ENST00000379188.3_Silent_p.T593T	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	593					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						ACTTGAAAACGCATGTCAAAA	0.438																																					Esophageal Squamous(20;306 562 7346 32868 37983)	ENST00000379177.1																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						c.(1777-1779)acG>acA		zinc finger protein, X-linked							111.0	93.0	99.0					X																	24228854		2203	4300	6503	SO:0001819	synonymous_variant	7543				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chrX:24228854G>A		CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"""Zinc fingers, C2H2-type"""	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.1779G>A	X.37:g.24228854G>A						ZFX_ENST00000540034.1_Silent_p.T632T|ZFX_ENST00000338565.3_Silent_p.T543T|ZFX_ENST00000379188.3_Silent_p.T593T|ZFX_ENST00000304543.5_Silent_p.T593T|ZFX_ENST00000539115.1_Silent_p.T364T	p.T593T	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN			11	2206	+			593					B9EG97|O43668|Q8WYJ8	Silent	SNP	ENST00000379177.1	37	c.1779G>A	CCDS14211.1																																																																																				0.438	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	NM_003410		7	67	0	0	0	0.001984	0	7	67				
HBB	3043	broad.mit.edu	37	11	5248168	5248168	+	Silent	SNP	G	G	A	rs67440443|rs63751076	byFrequency	TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr11:5248168G>A	ENST00000335295.4	-	1	133	c.84C>T	c.(82-84)gcC>gcT	p.A28A	CoTC_ribozyme_ENST00000408104.1_RNA	NM_000518.4	NP_000509.1	P68871	HBB_HUMAN	hemoglobin, beta	28			A -> D (in Volga/Drenthe; unstable).|A -> S (in Knossos). {ECO:0000269|PubMed:7173395}.|A -> V (in Grange-blanche; O(2) affinity up). {ECO:0000269|PubMed:3666141}.		bicarbonate transport (GO:0015701)|blood coagulation (GO:0007596)|hydrogen peroxide catabolic process (GO:0042744)|nitric oxide transport (GO:0030185)|oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|platelet aggregation (GO:0070527)|positive regulation of cell death (GO:0010942)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein heterooligomerization (GO:0051291)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|renal absorption (GO:0070293)|response to hydrogen peroxide (GO:0042542)|small molecule metabolic process (GO:0044281)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|hemoglobin binding (GO:0030492)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	ACCTGCCCAGGGCCTCACCAC	0.512									Sickle Cell Trait																													ENST00000335295.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15						c.(82-84)gcC>gcT		hemoglobin, beta	Iron Dextran(DB00893)						151.0	124.0	133.0					11																	5248168		2201	4298	6499	SO:0001819	synonymous_variant	3043	Sickle Cell Trait	Familial Cancer Database		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity	g.chr11:5248168G>A	J00173	CCDS7753.1	11p15.5	2014-05-19			ENSG00000244734	ENSG00000244734			4827	protein-coding gene	gene with protein product		141900				2649166	Standard	NM_000518		Approved	CD113t-C, HBD, beta-globin	uc001mae.1	P68871	OTTHUMG00000066678	ENST00000335295.4:c.84C>T	11.37:g.5248168G>A							p.A28A	NM_000518.4	NP_000509.1	P68871	HBB_HUMAN		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	259	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	28		A -> D (in Volga/Drenthe; unstable).|A -> S (in Knossos).|A -> V (in Grange-blanche; O(2) affinity up).			A4GX73|B2ZUE0|P02023|Q13852|Q14481|Q14510|Q45KT0|Q549N7|Q6FI08|Q6R7N2|Q8IZI1|Q9BX96|Q9UCD6|Q9UCP8|Q9UCP9	Silent	SNP	ENST00000335295.4	37	c.84C>T	CCDS7753.1																																																																																				0.512	HBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142977.2	NM_000518		11	36	0	0	0	0.008291	0	11	36				
ABCA10	10349	broad.mit.edu	37	17	67178387	67178387	+	Silent	SNP	A	A	G			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr17:67178387A>G	ENST00000269081.4	-	23	3585	c.2676T>C	c.(2674-2676)tgT>tgC	p.C892C	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	892					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GAACAGGAAAACAATTCAATT	0.294																																						ENST00000269081.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(2674-2676)tgT>tgC		ATP-binding cassette, sub-family A (ABC1), member 10							43.0	41.0	42.0					17																	67178387		2203	4300	6503	SO:0001819	synonymous_variant	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67178387A>G	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.2676T>C	17.37:g.67178387A>G						ABCA10_ENST00000416101.2_3'UTR	p.C892C	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN			23	3585	-	Breast(10;6.95e-12)		892					C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Silent	SNP	ENST00000269081.4	37	c.2676T>C	CCDS11684.1																																																																																				0.294	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		4	21	0	0	0	0.000248	0	4	21				
ZP3	7784	broad.mit.edu	37	7	76062842	76062842	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr7:76062842C>G	ENST00000394857.3	+	4	649	c.591C>G	c.(589-591)caC>caG	p.H197Q	ZP3_ENST00000416245.1_Missense_Mutation_p.H21Q|ZP3_ENST00000336517.4_Missense_Mutation_p.H146Q	NM_001110354.1	NP_001103824.1	P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	197	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				binding of sperm to zona pellucida (GO:0007339)|blastocyst formation (GO:0001825)|calcium ion transmembrane transport (GO:0070588)|egg coat formation (GO:0035803)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|negative regulation of transcription, DNA-templated (GO:0045892)|oocyte development (GO:0048599)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of acrosomal vesicle exocytosis (GO:2000368)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of antral ovarian follicle growth (GO:2000388)|positive regulation of calcium ion import (GO:0090280)|positive regulation of humoral immune response (GO:0002922)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of ovarian follicle development (GO:2000386)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type IV hypersensitivity (GO:0001809)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|outer acrosomal membrane (GO:0002081)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|carbohydrate binding (GO:0030246)|manganese ion transmembrane transporter activity (GO:0005384)|signal transducer activity (GO:0004871)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						ATGCAGCCCACCTCCAGGCAG	0.587																																						ENST00000416245.1																			0				endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						c.(61-63)caC>caG		zona pellucida glycoprotein 3 (sperm receptor)							98.0	92.0	94.0					7																	76062842		2203	4300	6503	SO:0001583	missense	7784				binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding	g.chr7:76062842C>G	M60504	CCDS5586.1, CCDS47618.1	7q11.23	2014-07-04	2002-09-17	2002-09-20	ENSG00000188372	ENSG00000188372		"""Zona pellucida glycoproteins"""	13189	protein-coding gene	gene with protein product		182889	"""zona pellucida glycoprotein 3A (sperm receptor)"""	ZP3A, ZP3B		1478648	Standard	NM_007155		Approved	ZP3-424, ZP3-372, ZPC	uc003ufd.4	P21754	OTTHUMG00000130575	ENST00000394857.3:c.591C>G	7.37:g.76062842C>G	ENSP00000378326:p.His197Gln					ZP3_ENST00000394857.3_Missense_Mutation_p.H197Q|ZP3_ENST00000336517.4_Missense_Mutation_p.H146Q	p.H21Q			P21754	ZP3_HUMAN			3	1156	+			197					Q06633|Q29RW0	Missense_Mutation	SNP	ENST00000394857.3	37	c.63C>G	CCDS47618.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.13|16.13	3.037304|3.037304	0.54896|0.54896	.|.	.|.	ENSG00000188372|ENSG00000188372	ENST00000336517;ENST00000394857;ENST00000544121;ENST00000416245|ENST00000394860	D;D;D|.	0.82255|.	-1.59;-1.59;-1.59|.	5.53|5.53	3.72|3.72	0.42706|0.42706	Zona pellucida sperm-binding protein (3);|.	0.161581|.	0.53938|.	D|.	0.000053|.	T|T	0.62600|0.62600	0.2441|0.2441	M|M	0.62266|0.62266	1.93|1.93	0.34860|0.34860	D|D	0.742485|0.742485	B;D|.	0.64830|.	0.126;0.994|.	B;P|.	0.59643|.	0.082;0.861|.	T|T	0.70487|0.70487	-0.4858|-0.4858	10|5	0.59425|.	D|.	0.04|.	-30.9795|-30.9795	10.3665|10.3665	0.44026|0.44026	0.0:0.8356:0.0:0.1644|0.0:0.8356:0.0:0.1644	.|.	146;197|.	P21754-3;P21754|.	.;ZP3_HUMAN|.	Q|S	146;197;197;21|19	ENSP00000337310:H146Q;ENSP00000378326:H197Q;ENSP00000411955:H21Q|.	ENSP00000337310:H146Q|.	H|T	+|+	3|2	2|0	ZP3|ZP3	75900778|75900778	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.921000|0.921000	0.55340|0.55340	1.292000|1.292000	0.33342|0.33342	1.346000|1.346000	0.45694|0.45694	0.655000|0.655000	0.94253|0.94253	CAC|ACC		0.587	ZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253004.1			14	109	0	0	0	0.002450	0	14	109				
BHMT2	23743	broad.mit.edu	37	5	78379594	78379594	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr5:78379594A>G	ENST00000255192.3	+	7	991	c.925A>G	c.(925-927)Agg>Ggg	p.R309G	BHMT2_ENST00000521567.1_Missense_Mutation_p.R245G|DMGDH_ENST00000520388.1_Intron	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	309					L-methionine salvage (GO:0071267)|S-adenosylmethionine metabolic process (GO:0046500)|S-methylmethionine metabolic process (GO:0033477)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|S-methylmethionine-homocysteine S-methyltransferase activity (GO:0061627)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	GGCCCCAGAAAGGGGCTTTTT	0.537																																						ENST00000255192.3																			0				endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15						c.(925-927)Agg>Ggg		betaine--homocysteine S-methyltransferase 2	L-Methionine(DB00134)						36.0	39.0	38.0					5																	78379594		2203	4300	6503	SO:0001583	missense	23743				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding	g.chr5:78379594A>G		CCDS4045.1, CCDS54871.1	5q13	2010-04-28	2010-04-28		ENSG00000132840	ENSG00000132840	2.1.1.5		1048	protein-coding gene	gene with protein product		605932				11087663, 18230605	Standard	NM_017614		Approved		uc003kft.3	Q9H2M3	OTTHUMG00000108158	ENST00000255192.3:c.925A>G	5.37:g.78379594A>G	ENSP00000255192:p.Arg309Gly					BHMT2_ENST00000521567.1_Missense_Mutation_p.R245G|DMGDH_ENST00000520388.1_Intron	p.R309G	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	7	991	+		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)	309					B7Z516|Q9NXX7	Missense_Mutation	SNP	ENST00000255192.3	37	c.925A>G	CCDS4045.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.991233	0.74703	.	.	ENSG00000132840	ENST00000255192;ENST00000521567	T;T	0.30448	1.53;1.53	5.44	2.84	0.33178	Homocysteine S-methyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.54581	0.1867	M	0.87547	2.89	0.54753	D	0.999986	D;D	0.76494	0.997;0.999	D;D	0.70935	0.926;0.971	T	0.57189	-0.7854	10	0.62326	D	0.03	-6.0843	8.2611	0.31786	0.7292:0.1385:0.0:0.1323	.	245;309	B7Z516;Q9H2M3	.;BHMT2_HUMAN	G	309;245	ENSP00000255192:R309G;ENSP00000430278:R245G	ENSP00000255192:R309G	R	+	1	2	BHMT2	78415350	1.000000	0.71417	0.994000	0.49952	0.984000	0.73092	3.164000	0.50770	0.859000	0.35456	0.533000	0.62120	AGG		0.537	BHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226962.2	NM_017614		6	32	0	0	0	0.001984	0	6	32				
PAM	5066	broad.mit.edu	37	5	102342680	102342680	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr5:102342680C>T	ENST00000438793.3	+	18	2449	c.1979C>T	c.(1978-1980)tCa>tTa	p.S660L	PAM_ENST00000348126.2_Missense_Mutation_p.S553L|PAM_ENST00000379787.4_Missense_Mutation_p.S40L|PAM_ENST00000304400.7_Missense_Mutation_p.S660L|PAM_ENST00000346918.2_Missense_Mutation_p.S660L|PAM_ENST00000274392.9_Missense_Mutation_p.S563L|PAM_ENST00000455264.2_Missense_Mutation_p.S660L	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	660	Peptidyl-alpha-hydroxyglycine alpha- amidating lyase. {ECO:0000250}.				central nervous system development (GO:0007417)|heart development (GO:0007507)|lactation (GO:0007595)|limb development (GO:0060173)|long-chain fatty acid metabolic process (GO:0001676)|maternal process involved in female pregnancy (GO:0060135)|odontogenesis (GO:0042476)|ovulation cycle process (GO:0022602)|peptide amidation (GO:0001519)|protein amidation (GO:0018032)|protein homooligomerization (GO:0051260)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of protein secretion (GO:0050708)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to pH (GO:0009268)|toxin metabolic process (GO:0009404)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|L-ascorbic acid binding (GO:0031418)|peptidylamidoglycolate lyase activity (GO:0004598)|peptidylglycine monooxygenase activity (GO:0004504)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	GTGCAGTTTTCACCAAGTGGA	0.438																																						ENST00000438793.3																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25						c.(1978-1980)tCa>tTa		peptidylglycine alpha-amidating monooxygenase	Vitamin C(DB00126)						81.0	76.0	78.0					5																	102342680		2203	4300	6503	SO:0001583	missense	5066				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding	g.chr5:102342680C>T	AB095007	CCDS4092.1, CCDS4093.1, CCDS4094.1, CCDS43348.1, CCDS54885.1	5q	2008-02-05			ENSG00000145730	ENSG00000145730	1.14.17.3		8596	protein-coding gene	gene with protein product	"""peptidyl-alpha-hydroxyglycine alpha-amidating lyase"", ""peptidylglycine alpha-hydroxylating monooxygenase"""	170270				2357221	Standard	NM_000919		Approved	PAL, PHM	uc003knt.3	P19021	OTTHUMG00000128729	ENST00000438793.3:c.1979C>T	5.37:g.102342680C>T	ENSP00000396493:p.Ser660Leu					PAM_ENST00000304400.7_Missense_Mutation_p.S660L|PAM_ENST00000379787.4_Missense_Mutation_p.S40L|PAM_ENST00000274392.9_Missense_Mutation_p.S563L|PAM_ENST00000455264.2_Missense_Mutation_p.S660L|PAM_ENST00000348126.2_Missense_Mutation_p.S553L|PAM_ENST00000346918.2_Missense_Mutation_p.S660L	p.S660L	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	18	2449	+		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)	660			Peptidyl-alpha-hydroxyglycine alpha- amidating lyase (By similarity).		A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	Missense_Mutation	SNP	ENST00000438793.3	37	c.1979C>T	CCDS54885.1	.	.	.	.	.	.	.	.	.	.	C	33	5.211731	0.95069	.	.	ENSG00000145730	ENST00000438793;ENST00000346918;ENST00000348126;ENST00000379787;ENST00000304400;ENST00000274392;ENST00000455264	D;D;D;T;D;D;D	0.90955	-2.76;-2.76;-2.76;0.85;-2.76;-2.76;-2.76	5.92	5.92	0.95590	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.96106	0.8731	M	0.85710	2.77	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.994;1.0;1.0	D	0.95943	0.8948	10	0.87932	D	0	.	20.3207	0.98668	0.0:1.0:0.0:0.0	.	563;660;660;660;660;553	F8WE90;P19021;P19021-4;P19021-3;P19021-5;P19021-2	.;AMD_HUMAN;.;.;.;.	L	660;660;553;40;660;563;660	ENSP00000396493:S660L;ENSP00000282992:S660L;ENSP00000314638:S553L;ENSP00000369113:S40L;ENSP00000306100:S660L;ENSP00000274392:S563L;ENSP00000403461:S660L	ENSP00000274392:S563L	S	+	2	0	PAM	102370579	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	7.729000	0.84864	2.813000	0.96785	0.561000	0.74099	TCA		0.438	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250640.2	NM_000919		13	66	0	0	0	0.001855	0	13	66				
GP5	2814	broad.mit.edu	37	3	194118222	194118222	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr3:194118222G>A	ENST00000401815.1	-	1	861	c.790C>T	c.(790-792)Cat>Tat	p.H264Y	GP5_ENST00000323007.3_Missense_Mutation_p.H264Y			P40197	GPV_HUMAN	glycoprotein V (platelet)	264					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|negative regulation of platelet activation (GO:0010544)|platelet activation (GO:0030168)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		TTGTGCGAATGAAGAAAGAGC	0.602																																						ENST00000401815.1																			0				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35						c.(790-792)Cat>Tat		glycoprotein V (platelet)							41.0	47.0	45.0					3																	194118222		2202	4300	6502	SO:0001583	missense	2814				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane		g.chr3:194118222G>A	L11238	CCDS3307.1	3q29	2008-02-01			ENSG00000178732	ENSG00000178732		"""CD molecules"""	4443	protein-coding gene	gene with protein product		173511				7690959	Standard	NM_004488		Approved	CD42d	uc003ftv.1	P40197	OTTHUMG00000150345	ENST00000401815.1:c.790C>T	3.37:g.194118222G>A	ENSP00000383931:p.His264Tyr					GP5_ENST00000323007.3_Missense_Mutation_p.H264Y	p.H264Y			P40197	GPV_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)	1	861	-	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	264					D1MER9	Missense_Mutation	SNP	ENST00000401815.1	37	c.790C>T	CCDS3307.1	.	.	.	.	.	.	.	.	.	.	G	5.793	0.330611	0.10956	.	.	ENSG00000178732	ENST00000401815;ENST00000323007	T;T	0.24908	1.83;1.83	4.06	3.17	0.36434	.	0.195948	0.25202	N	0.032380	T	0.14527	0.0351	N	0.20685	0.6	0.09310	N	1	B	0.15141	0.012	B	0.14023	0.01	T	0.17653	-1.0362	10	0.12430	T	0.62	.	11.8399	0.52348	0.089:0.0:0.911:0.0	.	264	P40197	GPV_HUMAN	Y	264	ENSP00000383931:H264Y;ENSP00000319286:H264Y	ENSP00000319286:H264Y	H	-	1	0	GP5	195599511	0.000000	0.05858	0.016000	0.15963	0.435000	0.31806	0.692000	0.25482	2.182000	0.69389	0.455000	0.32223	CAT		0.602	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317710.1	NM_004488		13	70	0	0	0	0.001368	0	13	70				
UNC5C	8633	broad.mit.edu	37	4	96222864	96222864	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr4:96222864C>T	ENST00000453304.1	-	3	731	c.383G>A	c.(382-384)cGc>cAc	p.R128H	UNC5C_ENST00000506749.1_Missense_Mutation_p.R128H|UNC5C_ENST00000504962.1_Missense_Mutation_p.R128H	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	128	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)		CACTTGCTGGCGCGAAATCTC	0.473																																						ENST00000453304.1																			0				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						c.(382-384)cGc>cAc		unc-5 homolog C (C. elegans)							74.0	61.0	65.0					4																	96222864		2203	4300	6503	SO:0001583	missense	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96222864C>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.383G>A	4.37:g.96222864C>T	ENSP00000406022:p.Arg128His					UNC5C_ENST00000506749.1_Missense_Mutation_p.R128H|UNC5C_ENST00000504962.1_Missense_Mutation_p.R128H	p.R128H	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	3	731	-		Hepatocellular(203;0.114)	128			Ig-like.		Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	c.383G>A	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	C	36	5.607877	0.96626	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796;ENST00000506749;ENST00000504962	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	5.72	5.72	0.89469	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.61640	0.2363	M	0.90369	3.11	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.78314	0.983;0.991;0.976	T	0.68815	-0.5309	10	0.87932	D	0	.	19.877	0.96880	0.0:1.0:0.0:0.0	.	128;128;128	A8K385;E0CX15;O95185	.;.;UNC5C_HUMAN	H	128;87;128;128;128	ENSP00000406022:R128H;ENSP00000426924:R128H;ENSP00000426153:R128H;ENSP00000425117:R128H	ENSP00000328673:R87H	R	-	2	0	UNC5C	96441887	1.000000	0.71417	0.991000	0.47740	0.992000	0.81027	7.776000	0.85560	2.696000	0.92011	0.650000	0.86243	CGC		0.473	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		13	28	0	0	0	0.001855	0	13	28				
DDR1	780	broad.mit.edu	37	6	30866738	30866738	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr6:30866738C>T	ENST00000324771.8	+	19	3073	c.2525C>T	c.(2524-2526)gCc>gTc	p.A842V	DDR1_ENST00000454612.2_Missense_Mutation_p.A805V|DDR1_ENST00000513240.1_Missense_Mutation_p.A848V|DDR1_ENST00000376575.3_Missense_Mutation_p.A848V|DDR1_ENST00000418800.2_Missense_Mutation_p.A805V|DDR1_ENST00000376568.3_Missense_Mutation_p.A842V|DDR1_ENST00000452441.1_Missense_Mutation_p.A842V|DDR1_ENST00000361741.4_Intron|DDR1_ENST00000376569.3_Missense_Mutation_p.A805V|DDR1_ENST00000508312.1_Missense_Mutation_p.A823V|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376567.2_Missense_Mutation_p.A805V|DDR1_ENST00000376570.4_Missense_Mutation_p.A805V			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	842	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CTCTGTAGGGCCCAGCCCTTT	0.617																																						ENST00000324771.8																			0				central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29						c.(2524-2526)gCc>gTc		discoidin domain receptor tyrosine kinase 1	Imatinib(DB00619)						134.0	107.0	116.0					6																	30866738		2203	4300	6503	SO:0001583	missense	780				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:30866738C>T	X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"""CD molecules"""	2730	protein-coding gene	gene with protein product		600408	"""discoidin domain receptor family, member 1"""	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.2525C>T	6.37:g.30866738C>T	ENSP00000318217:p.Ala842Val					DDR1_ENST00000418800.2_Missense_Mutation_p.A805V|DDR1_ENST00000361741.4_Intron|DDR1_ENST00000376567.2_Missense_Mutation_p.A805V|DDR1_ENST00000376570.4_Missense_Mutation_p.A805V|DDR1_ENST00000452441.1_Missense_Mutation_p.A842V|DDR1_ENST00000513240.1_Missense_Mutation_p.A848V|DDR1_ENST00000376569.3_Missense_Mutation_p.A805V|DDR1_ENST00000454612.2_Missense_Mutation_p.A805V|DDR1_ENST00000376575.3_Missense_Mutation_p.A848V|DDR1_ENST00000508312.1_Missense_Mutation_p.A823V|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376568.3_Missense_Mutation_p.A842V	p.A842V			Q08345	DDR1_HUMAN			19	3073	+			842			Protein kinase.		B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Missense_Mutation	SNP	ENST00000324771.8	37	c.2525C>T	CCDS34385.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.80|15.80	2.940601|2.940601	0.52972|0.52972	.|.	.|.	ENSG00000204580|ENSG00000204580	ENST00000324771;ENST00000418800;ENST00000454612;ENST00000376569;ENST00000376575;ENST00000376570;ENST00000376568;ENST00000452441;ENST00000508312;ENST00000376567;ENST00000513240|ENST00000484556	D;D;D;D;D;D;D;D;D;D;D|.	0.88896|.	-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44|.	4.89|4.89	4.0|4.0	0.46444|0.46444	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);|.	0.159000|.	0.41097|.	D|.	0.000952|.	T|T	0.18882|0.18882	0.0453|0.0453	N|N	0.20530|0.20530	0.585|0.585	0.32134|0.32134	N|N	0.586348|0.586348	B;B;B;B|.	0.24317|.	0.077;0.021;0.101;0.081|.	B;B;B;B|.	0.28139|.	0.086;0.065;0.038;0.037|.	T|T	0.11131|0.11131	-1.0600|-1.0600	10|5	0.72032|.	D|.	0.01|.	.|.	10.3458|10.3458	0.43906|0.43906	0.357:0.643:0.0:0.0|0.357:0.643:0.0:0.0	.|.	823;306;848;842|.	B7Z2K0;A2ABL4;Q08345-5;Q08345|.	.;.;.;DDR1_HUMAN|.	V|S	842;805;805;805;848;805;842;842;823;805;848|199	ENSP00000318217:A842V;ENSP00000407699:A805V;ENSP00000406091:A805V;ENSP00000365753:A805V;ENSP00000365759:A848V;ENSP00000365754:A805V;ENSP00000365752:A842V;ENSP00000405039:A842V;ENSP00000422442:A823V;ENSP00000365751:A805V;ENSP00000427552:A848V|.	ENSP00000318217:A842V|.	A|P	+|+	2|1	0|0	DDR1|DDR1	30974717|30974717	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.974000|0.974000	0.67602|0.67602	6.749000|6.749000	0.74883|0.74883	1.029000|1.029000	0.39812|0.39812	0.467000|0.467000	0.42956|0.42956	GCC|CCC		0.617	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994		19	69	0	0	0	0.007413	0	19	69				
TRIM51	84767	broad.mit.edu	37	11	55653267	55653267	+	Missense_Mutation	SNP	C	C	G	rs372652734		TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr11:55653267C>G	ENST00000449290.2	+	2	455	c.363C>G	c.(361-363)caC>caG	p.H121Q	TRIM51_ENST00000244891.3_5'Flank	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	121						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										CTCAGGAGCACCGGAATCACA	0.488																																						ENST00000449290.2																			0											c.(361-363)caC>caG		tripartite motif-containing 51							19.0	18.0	18.0					11																	55653267		692	1591	2283	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55653267C>G	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.363C>G	11.37:g.55653267C>G	ENSP00000395086:p.His121Gln						p.H121Q	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN			2	455	+			121					A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.363C>G		.	.	.	.	.	.	.	.	.	.	.	11.41	1.631110	0.28978	.	.	ENSG00000124900	ENST00000449290	D	0.95724	-3.79	0.803	0.803	0.18691	Zinc finger, B-box (3);	.	.	.	.	D	0.98118	0.9379	H	0.98918	4.37	0.50813	D	0.999895	D	0.89917	1.0	D	0.97110	1.0	D	0.95263	0.8370	9	0.87932	D	0	.	3.2172	0.06702	0.0:0.6803:0.0:0.3197	.	121	Q9BSJ1	SPRY5_HUMAN	Q	121	ENSP00000395086:H121Q	ENSP00000395086:H121Q	H	+	3	2	SPRYD5	55409843	0.247000	0.23920	0.428000	0.26697	0.049000	0.14656	0.534000	0.23098	0.752000	0.32923	0.152000	0.16155	CAC		0.488	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		5	28	0	0	0	0.001168	0	5	28				
RNF216	54476	broad.mit.edu	37	7	5780720	5780720	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr7:5780720C>G	ENST00000425013.2	-	4	981	c.757G>C	c.(757-759)Gag>Cag	p.E253Q	RNF216_ENST00000389902.3_Missense_Mutation_p.E310Q	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	253					apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		GGACCTGGCTCTTCATCATCA	0.517																																						ENST00000425013.2																		FBXL18/RNF216(2)	0				breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33						c.(757-759)Gag>Cag		ring finger protein 216							82.0	83.0	83.0					7																	5780720		2203	4300	6503	SO:0001583	missense	54476				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	g.chr7:5780720C>G	AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"""RING-type (C3HC4) zinc fingers"""	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.757G>C	7.37:g.5780720C>G	ENSP00000404602:p.Glu253Gln					RNF216_ENST00000389902.3_Missense_Mutation_p.E310Q	p.E253Q	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)	4	981	-		Ovarian(82;0.07)	253					Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Missense_Mutation	SNP	ENST00000425013.2	37	c.757G>C	CCDS34595.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.613979	0.28712	.	.	ENSG00000011275	ENST00000425013;ENST00000389902	T;T	0.46451	0.87;0.94	5.97	5.08	0.68730	.	0.493499	0.21795	N	0.069008	T	0.26304	0.0642	N	0.14661	0.345	0.22266	N	0.99925	B;B	0.13145	0.003;0.007	B;B	0.11329	0.004;0.006	T	0.06481	-1.0824	10	0.15066	T	0.55	-6.1178	14.9275	0.70890	0.0:0.7951:0.2049:0.0	.	253;310	Q9NWF9;Q9NWF9-1	RN216_HUMAN;.	Q	253;310	ENSP00000404602:E253Q;ENSP00000374552:E310Q	ENSP00000374550:E253Q	E	-	1	0	RNF216	5747246	0.967000	0.33354	0.926000	0.36857	0.988000	0.76386	1.587000	0.36622	2.838000	0.97847	0.561000	0.74099	GAG		0.517	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	NM_207111		10	94	0	0	0	0.001855	0	10	94				
SLC4A4	8671	broad.mit.edu	37	4	72121007	72121007	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr4:72121007G>T	ENST00000264485.5	+	3	261	c.144G>T	c.(142-144)aaG>aaT	p.K48N	SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000425175.1_Missense_Mutation_p.K48N|SLC4A4_ENST00000351898.6_Missense_Mutation_p.K48N	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	48					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	ACAAGAGAAAGACAGGGCACA	0.438																																						ENST00000425175.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(142-144)aaG>aaT		solute carrier family 4 (sodium bicarbonate cotransporter), member 4							167.0	169.0	168.0					4																	72121007		1934	4129	6063	SO:0001583	missense	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72121007G>T	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.144G>T	4.37:g.72121007G>T	ENSP00000264485:p.Lys48Asn					SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000264485.5_Missense_Mutation_p.K48N|SLC4A4_ENST00000351898.6_Missense_Mutation_p.K48N	p.K48N	NM_001134742.1	NP_001128214.1	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		3	261	+			48					C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	c.144G>T	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.825237	0.32237	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898	T;T;T	0.79033	-1.23;-1.23;-0.85	5.7	5.7	0.88788	.	0.293500	0.35495	N	0.003175	T	0.74215	0.3687	L	0.53249	1.67	0.34871	D	0.743637	B;B;B	0.29301	0.02;0.241;0.041	B;B;B	0.32583	0.024;0.148;0.021	T	0.77629	-0.2516	10	0.34782	T	0.22	.	13.5216	0.61572	0.0803:0.0:0.9197:0.0	.	48;48;48	A5JJ20;Q9Y6R1-4;Q9Y6R1	.;.;S4A4_HUMAN	N	48	ENSP00000264485:K48N;ENSP00000393557:K48N;ENSP00000307349:K48N	ENSP00000264485:K48N	K	+	3	2	SLC4A4	72339871	0.992000	0.36948	0.982000	0.44146	0.776000	0.43924	2.439000	0.44846	2.690000	0.91761	0.650000	0.86243	AAG		0.438	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		38	119	1	0	1.30998e-17	0.005524	2.61997e-17	38	119				
CREB3L4	148327	broad.mit.edu	37	1	153945906	153945906	+	Missense_Mutation	SNP	C	C	T	rs146463170	byFrequency	TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr1:153945906C>T	ENST00000368607.3	+	8	1129	c.863C>T	c.(862-864)tCc>tTc	p.S288F	CREB3L4_ENST00000368603.1_Missense_Mutation_p.S288F|CREB3L4_ENST00000468845.1_3'UTR|JTB_ENST00000471173.1_5'Flank|CREB3L4_ENST00000405694.3_Missense_Mutation_p.S141F|CREB3L4_ENST00000368600.3_Missense_Mutation_p.S268F|CREB3L4_ENST00000271889.4_Missense_Mutation_p.S288F	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like 4	288					response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCTCAAACTTCCAACAAAGCT	0.522																																						ENST00000368607.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13						c.(862-864)tCc>tTc		cAMP responsive element binding protein 3-like 4							89.0	83.0	85.0					1																	153945906		2203	4300	6503	SO:0001583	missense	148327				response to unfolded protein	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:153945906C>T	AF394167	CCDS1056.1, CCDS58029.1	1q21.2	2013-01-10			ENSG00000143578	ENSG00000143578		"""basic leucine zipper proteins"""	18854	protein-coding gene	gene with protein product		607138					Standard	NM_130898		Approved	AIbZIP, CREB4, CREB3, hJAL, ATCE1	uc001fdr.3	Q8TEY5	OTTHUMG00000037159	ENST00000368607.3:c.863C>T	1.37:g.153945906C>T	ENSP00000357596:p.Ser288Phe					CREB3L4_ENST00000468845.1_3'UTR|CREB3L4_ENST00000271889.4_Missense_Mutation_p.S288F|CREB3L4_ENST00000368600.3_Missense_Mutation_p.S268F|CREB3L4_ENST00000368603.1_Missense_Mutation_p.S288F|CREB3L4_ENST00000405694.3_Missense_Mutation_p.S141F	p.S288F	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		8	1129	+	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		288					D3DV62|Q5T4L0|Q86YW6	Missense_Mutation	SNP	ENST00000368607.3	37	c.863C>T	CCDS1056.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.956107	0.73902	.	.	ENSG00000143578	ENST00000405694;ENST00000368607;ENST00000271889;ENST00000368603;ENST00000368600	T;T;T;T;T	0.80123	-1.34;-0.38;-0.38;-0.38;-0.36	4.92	4.92	0.64577	.	0.141883	0.48767	D	0.000162	D	0.83280	0.5220	M	0.75615	2.305	0.45464	D	0.998433	D;D	0.76494	0.999;0.999	D;D	0.71184	0.972;0.972	T	0.81048	-0.1109	10	0.08599	T	0.76	-17.8597	15.6498	0.77081	0.0:1.0:0.0:0.0	.	268;288	Q5T4L0;Q8TEY5	.;CR3L4_HUMAN	F	141;288;288;288;268	ENSP00000385104:S141F;ENSP00000357596:S288F;ENSP00000271889:S288F;ENSP00000357592:S288F;ENSP00000357589:S268F	ENSP00000271889:S288F	S	+	2	0	CREB3L4	152212530	0.989000	0.36119	1.000000	0.80357	0.917000	0.54804	1.849000	0.39318	2.553000	0.86117	0.563000	0.77884	TCC		0.522	CREB3L4-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090291.1	NM_130898		16	78	0	0	0	0.003163	0	16	78				
SSPO	23145	broad.mit.edu	37	7	149489170	149489170	+	RNA	SNP	C	C	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr7:149489170C>T	ENST00000378016.2	+	0	5415							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)			GCCCTCAGGACGGCTGCCCCA	0.632																																						ENST00000378016.2																			0													SCO-spondin							64.0	71.0	68.0					7																	149489170		2111	4207	6318			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149489170C>T	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.149489170C>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	5415	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.632	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				11	56	0	0	0	0.001368	0	11	56				
CACNG3	10368	broad.mit.edu	37	16	24372924	24372924	+	Silent	SNP	C	C	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr16:24372924C>A	ENST00000005284.3	+	4	1890	c.688C>A	c.(688-690)Cga>Aga	p.R230R		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	230					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CTACAGGTATCGATTCCGGAG	0.537																																						ENST00000005284.3																			0				NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40						c.(688-690)Cga>Aga		calcium channel, voltage-dependent, gamma subunit 3							85.0	83.0	84.0					16																	24372924		2197	4300	6497	SO:0001819	synonymous_variant	10368				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr16:24372924C>A	AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"""Calcium channel subunits"""	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.688C>A	16.37:g.24372924C>A							p.R230R	NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN		GBM - Glioblastoma multiforme(48;0.0809)	4	1890	+			230						Silent	SNP	ENST00000005284.3	37	c.688C>A	CCDS10620.1																																																																																				0.537	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539		17	63	1	0	9.16793e-09	0.004990	1.77491e-08	17	63				
PITPNM1	9600	broad.mit.edu	37	11	67262422	67262422	+	Silent	SNP	G	G	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr11:67262422G>A	ENST00000534749.1	-	17	2825	c.2637C>T	c.(2635-2637)atC>atT	p.I879I	PITPNM1_ENST00000526450.1_5'Flank|PITPNM1_ENST00000356404.3_Silent_p.I879I|PITPNM1_ENST00000436757.2_Silent_p.I878I			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	879	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GCTCCTTCTCGATCACCTGCA	0.662																																					GBM(28;144 709 4607 5525)	ENST00000356404.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(2635-2637)atC>atT		phosphatidylinositol transfer protein, membrane-associated 1							67.0	64.0	65.0					11																	67262422		2200	4295	6495	SO:0001819	synonymous_variant	9600				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	g.chr11:67262422G>A	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"""PYK2 N-terminal domain-interacting receptor 2"", ""retinal degeneration B alpha 1"""	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.2637C>T	11.37:g.67262422G>A						PITPNM1_ENST00000534749.1_Silent_p.I879I|PITPNM1_ENST00000436757.2_Silent_p.I878I	p.I879I	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN			18	2862	-			879			DDHD.		A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Silent	SNP	ENST00000534749.1	37	c.2637C>T	CCDS31620.1																																																																																				0.662	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910		11	82	0	0	0	0.000978	0	11	82				
PDP1	54704	broad.mit.edu	37	8	94934378	94934378	+	Missense_Mutation	SNP	C	C	T	rs201452113		TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr8:94934378C>T	ENST00000297598.4	+	2	360	c.91C>T	c.(91-93)Cat>Tat	p.H31Y	PDP1_ENST00000520728.1_Missense_Mutation_p.H31Y|PDP1_ENST00000396200.3_Missense_Mutation_p.H56Y|PDP1_ENST00000517764.1_Missense_Mutation_p.H31Y	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	31					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						CCACCACAAACATCTCTGTTG	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		23203	0.001		0.0	False		,,,				2504	0.0					ENST00000396200.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						c.(166-168)Cat>Tat		pyruvate dehyrogenase phosphatase catalytic subunit 1							175.0	153.0	160.0					8																	94934378		2203	4300	6503	SO:0001583	missense	54704				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity	g.chr8:94934378C>T	AF155661	CCDS6259.1, CCDS55262.1	8q22.1	2012-04-17	2009-06-12	2009-06-12	ENSG00000164951	ENSG00000164951	3.1.3.43	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9279	protein-coding gene	gene with protein product		605993	"""protein phosphatase 2C, magnesium-dependent, catalytic subunit"""	PPM2C		8396421	Standard	NM_001161779		Approved	PDP, PDH	uc003ygf.3	Q9P0J1		ENST00000297598.4:c.91C>T	8.37:g.94934378C>T	ENSP00000297598:p.His31Tyr					PDP1_ENST00000297598.4_Missense_Mutation_p.H31Y|PDP1_ENST00000520728.1_Missense_Mutation_p.H31Y|PDP1_ENST00000517764.1_Missense_Mutation_p.H31Y	p.H56Y	NM_001161779.1	NP_001155251.1	Q9P0J1	PDP1_HUMAN			3	442	+			31					B3KX71|J3KPU0|Q5U5K1	Missense_Mutation	SNP	ENST00000297598.4	37	c.166C>T	CCDS6259.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	14.67	2.606124	0.46527	.	.	ENSG00000164951	ENST00000297598;ENST00000520614;ENST00000520728;ENST00000518107;ENST00000396200;ENST00000518573;ENST00000517764;ENST00000518827;ENST00000521144	T;T;T;T	0.47177	0.89;0.89;0.85;0.89	6.16	6.16	0.99307	.	0.122857	0.53938	D	0.000057	T	0.42765	0.1217	L	0.44542	1.39	0.53688	D	0.999974	P;P	0.45126	0.851;0.797	B;B	0.36289	0.221;0.178	T	0.29305	-1.0016	10	0.37606	T	0.19	-18.9215	20.8598	0.99761	0.0:1.0:0.0:0.0	.	82;31	B4DYX8;Q9P0J1	.;PDP1_HUMAN	Y	31;31;31;31;56;31;31;31;31	ENSP00000297598:H31Y;ENSP00000428317:H31Y;ENSP00000379503:H56Y;ENSP00000430380:H31Y	ENSP00000297598:H31Y	H	+	1	0	PDP1	95003554	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.333000	0.65917	2.937000	0.99478	0.650000	0.86243	CAT		0.483	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378415.2	NM_018444		10	100	0	0	0	0.006214	0	10	100				
SPTBN5	51332	broad.mit.edu	37	15	42173394	42173394	+	Silent	SNP	C	C	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr15:42173394C>T	ENST00000320955.6	-	13	2723	c.2496G>A	c.(2494-2496)agG>agA	p.R832R		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	832					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GCCCTGGGTTCCTCAGGCTTT	0.632																																						ENST00000320955.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(2494-2496)agG>agA		spectrin, beta, non-erythrocytic 5							45.0	50.0	48.0					15																	42173394		1975	4152	6127	SO:0001819	synonymous_variant	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42173394C>T	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.2496G>A	15.37:g.42173394C>T							p.R832R	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	13	2723	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	832						Silent	SNP	ENST00000320955.6	37	c.2496G>A																																																																																					0.632	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		6	33	0	0	0	0.001168	0	6	33				
ALPK1	80216	broad.mit.edu	37	4	113352354	113352354	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr4:113352354C>T	ENST00000458497.1	+	11	1930	c.1651C>T	c.(1651-1653)Caa>Taa	p.Q551*	ALPK1_ENST00000504176.2_Nonsense_Mutation_p.Q473*|ALPK1_ENST00000177648.9_Nonsense_Mutation_p.Q551*	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	551							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CTCCTTGGATCAAGATGTGGA	0.493																																						ENST00000458497.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53						c.(1651-1653)Caa>Taa		alpha-kinase 1							90.0	88.0	89.0					4																	113352354		2203	4300	6503	SO:0001587	stop_gained	80216						ATP binding|protein serine/threonine kinase activity	g.chr4:113352354C>T	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.1651C>T	4.37:g.113352354C>T	ENSP00000398048:p.Gln551*					ALPK1_ENST00000177648.9_Nonsense_Mutation_p.Q551*|ALPK1_ENST00000504176.2_Nonsense_Mutation_p.Q473*	p.Q551*	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	11	1930	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	551					B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Nonsense_Mutation	SNP	ENST00000458497.1	37	c.1651C>T	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	C	37	6.062042	0.97246	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	.	.	.	4.51	0.462	0.16695	.	0.840721	0.10882	N	0.623664	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-1.2885	8.7705	0.34728	0.1007:0.1838:0.6365:0.0791	.	.	.	.	X	551;551;473	.	ENSP00000177648:Q551X	Q	+	1	0	ALPK1	113571803	0.038000	0.19896	0.002000	0.10522	0.315000	0.28087	0.595000	0.24029	0.218000	0.20820	0.655000	0.94253	CAA		0.493	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		9	69	0	0	0	0.004482	0	9	69				
TOP3B	8940	broad.mit.edu	37	22	22314743	22314743	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr22:22314743A>C	ENST00000398793.2	-	14	2038	c.1604T>G	c.(1603-1605)cTc>cGc	p.L535R	TOP3B_ENST00000413067.2_3'UTR|TOP3B_ENST00000357179.5_Missense_Mutation_p.L535R	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	535					chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		GGTGGGCTTGAGCCGGCGCCC	0.612																																						ENST00000398793.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26						c.(1603-1605)cTc>cGc		topoisomerase (DNA) III beta							98.0	78.0	85.0					22																	22314743		2203	4300	6503	SO:0001583	missense	8940				DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding	g.chr22:22314743A>C	AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.1604T>G	22.37:g.22314743A>C	ENSP00000381773:p.Leu535Arg					TOP3B_ENST00000357179.5_Missense_Mutation_p.L535R|TOP3B_ENST00000413067.2_3'UTR	p.L535R	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	14	2038	-	Colorectal(54;0.105)		535					A0M8Q3|Q9BUP5	Missense_Mutation	SNP	ENST00000398793.2	37	c.1604T>G	CCDS13797.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	32|32	5.152280|5.152280	0.94645|0.94645	.|.	.|.	ENSG00000100038|ENSG00000100038	ENST00000357179;ENST00000398793|ENST00000457270	T;T|.	0.35789|.	1.29;1.29|.	5.69|5.69	5.69|5.69	0.88448|0.88448	DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central (1);DNA topoisomerase, type IA, DNA-binding (1);DNA topoisomerase, type IA, central region, subdomain 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86037|0.86037	0.5837|0.5837	M|M	0.93283|0.93283	3.4|3.4	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.87578|.	0.998;0.998;0.997|.	D|D	0.89795|0.89795	0.3971|0.3971	10|5	0.87932|.	D|.	0|.	.|.	15.9526|15.9526	0.79855|0.79855	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	80;535;535|.	B3KU89;O95985;O95985-2|.	.;TOP3B_HUMAN;.|.	R|A	535|330	ENSP00000349705:L535R;ENSP00000381773:L535R|.	ENSP00000349705:L535R|.	L|S	-|-	2|1	0|0	TOP3B|TOP3B	20644743|20644743	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.873000|0.873000	0.50193|0.50193	8.912000|8.912000	0.92726|0.92726	2.171000|2.171000	0.68590|0.68590	0.460000|0.460000	0.39030|0.39030	CTC|TCA		0.612	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320251.1	NM_003935		6	55	0	0	0	0.001168	0	6	55				
TTN	7273	broad.mit.edu	37	2	179542570	179542570	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr2:179542570T>C	ENST00000591111.1	-	144	33342	c.33118A>G	c.(33118-33120)Att>Gtt	p.I11040V	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I11357V|TTN_ENST00000342992.6_Missense_Mutation_p.I10113V|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	10180	Glu-rich.|Pro-rich.				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)			TCAGGAACAATTTCTTCTTCA	0.418																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(34069-34071)Att>Gtt		titin							91.0	90.0	90.0					2																	179542570		1842	4083	5925	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179542570T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.33118A>G	2.37:g.179542570T>C	ENSP00000465570:p.Ile11040Val					TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.I10113V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I11040V|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron	p.I11357V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		146	34293	-			11040			Glu-rich.|Pro-rich.		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.34069A>G		.	.	.	.	.	.	.	.	.	.	T	5.009	0.187343	0.09547	.	.	ENSG00000155657	ENST00000342992	T	0.63580	-0.05	4.58	3.43	0.39272	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.47229	0.1434	.	.	.	0.09310	N	0.999993	B	0.02656	0.0	B	0.01281	0.0	T	0.43081	-0.9413	8	0.87932	D	0	.	4.0546	0.09811	0.1466:0.2328:0.0:0.6205	.	11040	Q8WZ42	TITIN_HUMAN	V	10113	ENSP00000343764:I10113V	ENSP00000343764:I10113V	I	-	1	0	TTN	179250815	0.000000	0.05858	0.998000	0.56505	0.337000	0.28794	0.054000	0.14205	1.085000	0.41206	-0.256000	0.11100	ATT		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		16	93	0	0	0	0.004990	0	16	93				
GBF1	8729	broad.mit.edu	37	10	104128578	104128578	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr10:104128578C>G	ENST00000369983.3	+	23	3219	c.2959C>G	c.(2959-2961)Ctc>Gtc	p.L987V		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	987					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		ATTCACAGCTCTCAGCAGTGA	0.502																																						ENST00000369983.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(2959-2961)Ctc>Gtc		golgi brefeldin A resistant guanine nucleotide exchange factor 1							135.0	120.0	125.0					10																	104128578		2203	4300	6503	SO:0001583	missense	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104128578C>G	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.2959C>G	10.37:g.104128578C>G	ENSP00000359000:p.Leu987Val						p.L987V	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	23	3219	+		Colorectal(252;0.0236)	987					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	c.2959C>G	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.853152	0.71719	.	.	ENSG00000107862	ENST00000369983	T	0.64260	-0.09	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.85017	0.5601	M	0.92122	3.275	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.997	D;D;D	0.72625	0.973;0.959;0.978	D	0.87267	0.2283	10	0.87932	D	0	-14.9328	20.5792	0.99380	0.0:1.0:0.0:0.0	.	987;987;987	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	V	987	ENSP00000359000:L987V	ENSP00000359000:L987V	L	+	1	0	GBF1	104118568	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.050000	0.71063	2.873000	0.98535	0.561000	0.74099	CTC		0.502	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			14	83	0	0	0	0.002450	0	14	83				
LRP2	4036	broad.mit.edu	37	2	170058335	170058335	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr2:170058335C>T	ENST00000263816.3	-	44	8540	c.8255G>A	c.(8254-8256)cGa>cAa	p.R2752Q		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2752	LDL-receptor class A 17. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TTGGACACATCGCCCATTGGC	0.483																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(8254-8256)cGa>cAa		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						140.0	121.0	127.0					2																	170058335		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170058335C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.8255G>A	2.37:g.170058335C>T	ENSP00000263816:p.Arg2752Gln						p.R2752Q	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	44	8540	-			2752			LDL-receptor class A 17.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.8255G>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.821237	0.90873	.	.	ENSG00000081479	ENST00000263816	D	0.95588	-3.75	5.7	3.89	0.44902	.	0.064498	0.64402	D	0.000005	D	0.95395	0.8505	L	0.43646	1.37	0.80722	D	1	D	0.76494	0.999	P	0.61070	0.883	D	0.94610	0.7803	10	0.72032	D	0.01	.	10.8384	0.46700	0.1312:0.8012:0.0:0.0676	.	2752	P98164	LRP2_HUMAN	Q	2752	ENSP00000263816:R2752Q	ENSP00000263816:R2752Q	R	-	2	0	LRP2	169766581	1.000000	0.71417	0.990000	0.47175	0.842000	0.47809	4.869000	0.63028	0.743000	0.32719	0.650000	0.86243	CGA		0.483	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		9	33	0	0	0	0.004482	0	9	33				
RIN3	79890	broad.mit.edu	37	14	93118383	93118383	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr14:93118383C>T	ENST00000216487.7	+	6	1148	c.989C>T	c.(988-990)cCa>cTa	p.P330L	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	330	Pro-rich.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CCAGGTCCCCCAGACCATCCG	0.697																																						ENST00000216487.7																			0				endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(988-990)cCa>cTa		Ras and Rab interactor 3							15.0	17.0	16.0					14																	93118383		1994	3986	5980	SO:0001583	missense	79890				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	g.chr14:93118383C>T	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.989C>T	14.37:g.93118383C>T	ENSP00000216487:p.Pro330Leu					RIN3_ENST00000418924.2_3'UTR	p.P330L	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN			6	1148	+		all_cancers(154;0.0701)	330			Pro-rich.		Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Missense_Mutation	SNP	ENST00000216487.7	37	c.989C>T	CCDS32144.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.993814	0.54041	.	.	ENSG00000100599	ENST00000216487	T	0.06371	3.31	4.12	3.21	0.36854	.	1.167260	0.06160	N	0.675745	T	0.12646	0.0307	M	0.62723	1.935	0.58432	D	0.999994	P;D	0.54047	0.935;0.964	B;P	0.44811	0.29;0.461	T	0.10590	-1.0623	10	0.49607	T	0.09	-2.87	11.6892	0.51505	0.1789:0.8211:0.0:0.0	.	255;330	Q6ZRC2;Q8TB24	.;RIN3_HUMAN	L	330	ENSP00000216487:P330L	ENSP00000216487:P330L	P	+	2	0	RIN3	92188136	0.101000	0.21875	0.647000	0.29507	0.350000	0.29205	1.055000	0.30467	0.691000	0.31592	0.313000	0.20887	CCA		0.697	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1			16	23	0	0	0	0.003163	0	16	23				
SERTAD1	29950	broad.mit.edu	37	19	40929409	40929409	+	Silent	SNP	C	C	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr19:40929409C>T	ENST00000357949.4	-	2	203	c.45G>A	c.(43-45)gaG>gaA	p.E15E		NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	15					positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription, DNA-templated (GO:0006351)					endometrium(2)|lung(1)|prostate(1)|skin(1)	5			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAGGTTCCTTCTCCTCCTCCT	0.562																																						ENST00000357949.4																			0				endometrium(2)|lung(1)|prostate(1)|skin(1)	5						c.(43-45)gaG>gaA		SERTA domain containing 1							30.0	34.0	32.0					19																	40929409		2161	4250	6411	SO:0001819	synonymous_variant	29950				positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr19:40929409C>T	AF117959	CCDS12557.1	19q13.1-q13.2	2008-02-05				ENSG00000197019			17932	protein-coding gene	gene with protein product	"""CDK4-binding protein p34SEI"", ""transcriptional regulator interacting with the PHD-bromodomain 1"""					6434876, 10580009	Standard	NM_013376		Approved	SEI1, TRIP-Br1	uc002ont.4	Q9UHV2		ENST00000357949.4:c.45G>A	19.37:g.40929409C>T							p.E15E	NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		2	203	-			15					Q9BUE7	Silent	SNP	ENST00000357949.4	37	c.45G>A	CCDS12557.1																																																																																				0.562	SERTAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462571.1	NM_013376		9	41	0	0	0	0.008291	0	9	41				
CAPZA1	829	broad.mit.edu	37	1	113209755	113209758	+	Frame_Shift_Del	DEL	ACTA	ACTA	-			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr1:113209755_113209758delACTA	ENST00000263168.3	+	8	1317_1320	c.645_648delACTA	c.(643-648)tcactafs	p.SL215fs	CAPZA1_ENST00000476936.1_3'UTR	NM_006135.2	NP_006126.1	P52907	CAZA1_HUMAN	capping protein (actin filament) muscle Z-line, alpha 1	215					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)	actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|WASH complex (GO:0071203)	actin binding (GO:0003779)			breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACAGGATTCACTAACTGTTTCGG	0.368																																						ENST00000263168.3																			0				breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9						c.(643-648)tcfs		capping protein (actin filament) muscle Z-line, alpha 1																																				SO:0001589	frameshift_variant	829				actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex|WASH complex	actin binding	g.chr1:113209755_113209758delACTA	U56637	CCDS30805.1	1p13.2	2014-05-09			ENSG00000116489	ENSG00000116489			1488	protein-coding gene	gene with protein product		601580				7665558, 9119363	Standard	NM_006135		Approved		uc001ecj.1	P52907	OTTHUMG00000011769	ENST00000263168.3:c.645_648delACTA	1.37:g.113209755_113209758delACTA	ENSP00000263168:p.Ser215fs					CAPZA1_ENST00000476936.1_3'UTR	p.SL215fs	NM_006135.2	NP_006126.1	P52907	CAZA1_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	8	1317_1320	+	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)	215					Q53FQ6|Q6FHD5	Frame_Shift_Del	DEL	ENST00000263168.3	37	c.645_648delACTA	CCDS30805.1																																																																																				0.368	CAPZA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032567.2	NM_006135		12	74						12	74	---	---	---	---
ACTA1	58	broad.mit.edu	37	1	229568585	229568585	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr1:229568585C>T	ENST00000366684.3	-	3	274	c.172G>A	c.(172-174)Gac>Aac	p.D58N	ACTA1_ENST00000366683.2_Missense_Mutation_p.D58N	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	58					cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				TGAGCCTCGTCGCCCACGTAG	0.597																																						ENST00000366684.3																			0				endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28						c.(172-174)Gac>Aac		actin, alpha 1, skeletal muscle	Dornase Alfa(DB00003)						67.0	67.0	67.0					1																	229568585		2203	4300	6503	SO:0001583	missense	58				muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton	g.chr1:229568585C>T	J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"""nemaline myopathy type 3"""	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.172G>A	1.37:g.229568585C>T	ENSP00000355645:p.Asp58Asn					ACTA1_ENST00000366683.2_Missense_Mutation_p.D58N	p.D58N	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN			3	274	-	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)	58					P02568|P99020|Q5T8M9	Missense_Mutation	SNP	ENST00000366684.3	37	c.172G>A	CCDS1578.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.679084	0.68042	.	.	ENSG00000143632	ENST00000366684;ENST00000308794;ENST00000366683;ENST00000366682;ENST00000342787	D;D	0.97209	-4.29;-3.5	4.69	4.69	0.59074	Actin, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.96358	0.8812	M	0.84156	2.68	0.37502	D	0.916812	B	0.02656	0.0	B	0.08055	0.003	D	0.95825	0.8853	10	0.25751	T	0.34	.	16.5419	0.84395	0.0:1.0:0.0:0.0	.	58	P68133	ACTS_HUMAN	N	58	ENSP00000355645:D58N;ENSP00000355644:D58N	ENSP00000312351:D58N	D	-	1	0	ACTA1	227635208	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.651000	0.83577	2.431000	0.82371	0.655000	0.94253	GAC		0.597	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1	NM_001100		18	78	0	0	0	0.008871	0	18	78				
MCC	4163	broad.mit.edu	37	5	112824048	112824049	+	In_Frame_Ins	INS	-	-	GCC	rs35336557|rs531679771|rs370593160	byFrequency	TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr5:112824048_112824049insGCC	ENST00000408903.3	-	1	478_479	c.63_64insGGC	c.(61-66)ggcagc>ggcGGCagc	p.21_22insG		NM_001085377.1	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers	0					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ctgctgccgctgccgccgccgc	0.738														1663	0.332069	0.0227	0.3487	5008	,	,		8489	0.5208		0.3668	False		,,,				2504	0.5082					ENST00000408903.3																			0				endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(61-66)gggcgg>ggGGCgcgg		mutated in colorectal cancers																																				SO:0001652	inframe_insertion	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112824048_112824049insGCC		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000408903.3:c.61_63dupGGC	5.37:g.112824055_112824057dupGCC	ENSP00000386227:p.Gly22_Gly23dup						p.21_22GR>GAR	NM_001085377.1	NP_001078846.1	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	1	478_479	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	549					D3DT05|Q6ZR04	In_Frame_Ins	INS	ENST00000408903.3	37	c.63_64insGGC	CCDS43351.1																																																																																				0.738	MCC-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370839.1	NM_001085377		8	11						8	11	---	---	---	---
PHF2	5253	broad.mit.edu	37	9	96439004	96439005	+	In_Frame_Ins	INS	-	-	CCTGCCTCCACCACA	rs75653373|rs149736720|rs368818072	byFrequency	TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr9:96439004_96439005insCCTGCCTCCACCACA	ENST00000359246.4	+	21	3328_3329	c.2961_2962insCCTGCCTCCACCACA	c.(2962-2964)ccg>CCTGCCTCCACCACAccg	p.988_988P>PASTTP	PHF2_ENST00000375376.4_In_Frame_Ins_p.219_219P>PASTTP	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	988	Ser/Thr-rich.				liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.T987_P988insPASTT(1)|p.T987T(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		cctctaccaccccggcctccac	0.688														2369	0.473043	0.6853	0.4265	5008	,	,		14854	0.4246		0.5089	False		,,,				2504	0.2321					ENST00000359246.4																			2	Insertion - In frame(1)|Substitution - coding silent(1)	p.T987_P988insPASTT(1)|p.T987T(1)	large_intestine(1)|central_nervous_system(1)	breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(2959-2964)accggc>acCCTGCCTCCACCACAcggc		PHD finger protein 2				3102,73,967		1205,35,657,8,22,144						0.7	1.0		dbSNP_130	68	5084,99,2939		1725,33,1601,12,42,648	no	codingComplex	PHF2	NM_005392.3		2930,68,2258,20,64,792	A1A1,A1A2,A1R,A2A2,A2R,RR		37.4046,25.1086,33.2518				8186,172,3906				SO:0001652	inframe_insertion	5253				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:96439004_96439005insCCTGCCTCCACCACA	AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	Exception_encountered	9.37:g.96439004_96439005insCCTGCCTCCACCACA	ENSP00000352185:p.AlaSerThrThrPro993dup					PHF2_ENST00000375376.4_In_Frame_Ins_p.218_219TG>TLPPPHG	p.987_988TG>TLPPPHG	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)	21	3328_3329	+		Myeloproliferative disorder(762;0.0255)	987			Ser/Thr-rich.		Q4VXG0|Q8N3K2|Q9Y6N4	In_Frame_Ins	INS	ENST00000359246.4	37	c.2961_2962insCCTGCCTCCACCACA	CCDS35069.1																																																																																				0.688	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	NM_005392		4	2						4	2	---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6662746	6662748	+	In_Frame_Del	DEL	CAG	CAG	-	rs370785084|rs372916982		TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr11:6662746_6662748delCAG	ENST00000299441.3	-	2	508_510	c.97_99delCTG	c.(97-99)ctgdel	p.L33del		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	33					branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L33_G34insL(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCCAGCCCCcagcagcagcagc	0.635																																						ENST00000299441.3																			1	Insertion - In frame(1)	p.L33_G34insL(1)	prostate(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(97-99)del		dachsous cadherin-related 1				54,415,3471		8,0,38,73,269,1582						5.3	1.0		dbSNP_130	8	588,630,6394		117,13,341,89,439,2807	no	codingComplex	DCHS1	NM_003737.2		125,13,379,162,708,4389	A1A1,A1A2,A1R,A2A2,A2R,RR		16.0011,11.9036,14.6035				642,1045,9865				SO:0001651	inframe_deletion	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6662746_6662748delCAG	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.97_99delCTG	11.37:g.6662755_6662757delCAG	ENSP00000299441:p.Leu33del						p.L33del	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	508_510	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	33					O15098	In_Frame_Del	DEL	ENST00000299441.3	37	c.97_99delCTG	CCDS7771.1																																																																																				0.635	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		2	4						2	4	---	---	---	---
ARID2	196528	broad.mit.edu	37	12	46243822	46243823	+	Frame_Shift_Ins	INS	-	-	C			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr12:46243822_46243823insC	ENST00000334344.6	+	15	2088_2089	c.1916_1917insC	c.(1915-1920)atccctfs	p.IP639fs	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Frame_Shift_Ins_p.IP249fs|ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000422737.1_Frame_Shift_Ins_p.IP490fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	639					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|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)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTTTCAGGAATCCCTCATGGAT	0.337			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(1915-1917)accfs		AT rich interactive domain 2 (ARID, RFX-like)																																				SO:0001589	frameshift_variant	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46243822_46243823insC		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.1919dupC	12.37:g.46243825_46243825dupC	ENSP00000335044:p.Ile639fs					ARID2_ENST00000422737.1_Frame_Shift_Ins_p.T490fs|ARID2_ENST00000444670.1_Frame_Shift_Ins_p.T249fs|ARID2_ENST00000479608.1_3'UTR	p.T639fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	2088_2089	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	639					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Frame_Shift_Ins	INS	ENST00000334344.6	37	c.1916_1917insC	CCDS31783.1																																																																																				0.337	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		24	62						24	62	---	---	---	---
ICE2	79664	broad.mit.edu	37	15	60745913	60745914	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr15:60745913_60745914delTC	ENST00000261520.4	-	9	1247_1248	c.1013_1014delGA	c.(1012-1014)agafs	p.R338fs	NARG2_ENST00000439632.1_Frame_Shift_Del_p.R201fs|NARG2_ENST00000561114.1_Frame_Shift_Del_p.R338fs	NM_024611.4	NP_078887.2														breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						AGATTTGATTTCTCTCTCTCAT	0.317																																						ENST00000261520.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						c.(1012-1014)afs		NMDA receptor regulated 2																																				SO:0001589	frameshift_variant	79664					nucleus		g.chr15:60745913_60745914delTC																												ENST00000261520.4:c.1013_1014delGA	15.37:g.60745921_60745922delTC	ENSP00000261520:p.Arg338fs					NARG2_ENST00000561114.1_Frame_Shift_Del_p.R338fs|NARG2_ENST00000439632.1_Frame_Shift_Del_p.R201fs	p.R338fs	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN			9	1247_1248	-			338						Frame_Shift_Del	DEL	ENST00000261520.4	37	c.1013_1014delGA	CCDS10176.1																																																																																				0.317	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256136.1			12	76						12	76	---	---	---	---
GRIN2A	2903	broad.mit.edu	37	16	10274133	10274135	+	In_Frame_Del	DEL	CGT	CGT	-			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr16:10274133_10274135delCGT	ENST00000396573.2	-	3	443_445	c.134_136delACG	c.(133-138)gacgtg>gtg	p.D45del	GRIN2A_ENST00000396575.2_In_Frame_Del_p.D45del|GRIN2A_ENST00000562109.1_In_Frame_Del_p.D45del|GRIN2A_ENST00000330684.3_In_Frame_Del_p.D45del|GRIN2A_ENST00000404927.2_In_Frame_Del_p.D45del	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	45					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.V46L(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CGCTCTGTCACGTCGTGGCTGTG	0.695																																						ENST00000396573.2																			1	Substitution - Missense(1)	p.V46L(1)	lung(1)	NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(133-138)gtg>g		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)																																			SO:0001651	inframe_deletion	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:10274133_10274135delCGT		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.134_136delACG	16.37:g.10274136_10274138delCGT	ENSP00000379818:p.Asp45del					GRIN2A_ENST00000404927.2_In_Frame_Del_p.DV45del|GRIN2A_ENST00000562109.1_In_Frame_Del_p.DV45del|GRIN2A_ENST00000396575.2_In_Frame_Del_p.DV45del|GRIN2A_ENST00000330684.3_In_Frame_Del_p.DV45del	p.DV45del	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			3	443_445	-			45					O00669|Q17RZ6	In_Frame_Del	DEL	ENST00000396573.2	37	c.134_136delACG	CCDS10539.1																																																																																				0.695	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			37	87						37	87	---	---	---	---
