#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
NEB	4703	broad.mit.edu	37	2	152501079	152501079	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr2:152501079C>A	ENST00000172853.10	-	56	7694	c.7547G>T	c.(7546-7548)cGa>cTa	p.R2516L	NEB_ENST00000409198.1_Missense_Mutation_p.R2516L|NEB_ENST00000603639.1_Missense_Mutation_p.R2516L|NEB_ENST00000427231.2_Missense_Mutation_p.R2516L|NEB_ENST00000397345.3_Missense_Mutation_p.R2516L|NEB_ENST00000604864.1_Missense_Mutation_p.R2516L			P20929	NEBU_HUMAN	nebulin	2516					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATAACCCATTCGGTAGAGTTT	0.388																																						ENST00000427231.2																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(7546-7548)cGa>cTa		nebulin							119.0	110.0	113.0					2																	152501079		1832	4089	5921	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152501079C>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.7547G>T	2.37:g.152501079C>A	ENSP00000172853:p.Arg2516Leu					NEB_ENST00000604864.1_Missense_Mutation_p.R2516L|NEB_ENST00000409198.1_Missense_Mutation_p.R2516L|NEB_ENST00000172853.10_Missense_Mutation_p.R2516L|NEB_ENST00000397345.3_Missense_Mutation_p.R2516L|NEB_ENST00000603639.1_Missense_Mutation_p.R2516L	p.R2516L	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	56	7749	-			2516					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.7547G>T		.	.	.	.	.	.	.	.	.	.	C	18.33	3.599609	0.66332	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.55760	0.5;0.5;0.5;0.5	5.4	4.51	0.55191	.	0.243755	0.32987	N	0.005419	T	0.53802	0.1819	L	0.61218	1.895	0.80722	D	1	P	0.35050	0.482	B	0.43536	0.423	T	0.57825	-0.7744	10	0.72032	D	0.01	.	6.4269	0.21773	0.0:0.6765:0.0:0.3235	.	2516	P20929	NEBU_HUMAN	L	2516	ENSP00000386259:R2516L;ENSP00000380505:R2516L;ENSP00000416578:R2516L;ENSP00000172853:R2516L	ENSP00000172853:R2516L	R	-	2	0	NEB	152209325	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	2.932000	0.48940	1.389000	0.46526	0.557000	0.71058	CGA		0.388	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		3	126	1	0	0.115264	0.115264	0.124229	3	126				
ARNT2	9915	broad.mit.edu	37	15	80845046	80845046	+	Silent	SNP	G	G	A			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr15:80845046G>A	ENST00000303329.4	+	10	1185	c.1020G>A	c.(1018-1020)cgG>cgA	p.R340R	ARNT2_ENST00000533983.1_Silent_p.R329R|ARNT2_ENST00000527771.1_Silent_p.R329R|RP11-379K22.2_ENST00000558208.1_RNA	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	340	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			TCTTATCCCGGCATAACTCCG	0.483																																						ENST00000533983.1																			0				NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35						c.(985-987)cgG>cgA		aryl-hydrocarbon receptor nuclear translocator 2							169.0	142.0	151.0					15																	80845046		2203	4300	6503	SO:0001819	synonymous_variant	9915				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr15:80845046G>A	AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"""Basic helix-loop-helix proteins"""	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.1020G>A	15.37:g.80845046G>A						ARNT2_ENST00000303329.4_Silent_p.R340R|ARNT2_ENST00000527771.1_Silent_p.R329R	p.R329R			Q9HBZ2	ARNT2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.134)		11	1326	+			340			PAS 2.		B4DIS7|O15024|Q8IYC2	Silent	SNP	ENST00000303329.4	37	c.987G>A	CCDS32307.1																																																																																				0.483	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2			5	210	0	0	0	0.184627	0	5	210				
GNB2	2783	broad.mit.edu	37	7	100275401	100275401	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr7:100275401G>A	ENST00000303210.4	+	7	939	c.457G>A	c.(457-459)Gat>Aat	p.D153N	GNB2_ENST00000427895.1_Missense_Mutation_p.D53N|GNB2_ENST00000393926.1_Missense_Mutation_p.D153N|GNB2_ENST00000424361.1_Missense_Mutation_p.D109N|GNB2_ENST00000393924.1_Missense_Mutation_p.D153N|GNB2_ENST00000419828.1_Missense_Mutation_p.D53N|GNB2_ENST00000436220.1_Missense_Mutation_p.D109N	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	153					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	calcium channel regulator activity (GO:0005246)|GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				CCGCTTCCTGGATGACAACCA	0.627																																						ENST00000303210.4																			0				endometrium(1)|lung(3)|ovary(2)|prostate(1)	7						c.(457-459)Gat>Aat		guanine nucleotide binding protein (G protein), beta polypeptide 2							66.0	55.0	58.0					7																	100275401		2203	4300	6503	SO:0001583	missense	2783				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity	g.chr7:100275401G>A	M16514	CCDS5703.1	7q21.3-q22.1	2013-01-10			ENSG00000172354	ENSG00000172354		"""WD repeat domain containing"""	4398	protein-coding gene	gene with protein product	"""G protein, beta-2 subunit"", ""guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 2"", ""signal-transducing guanine nucleotide-binding regulatory protein beta subunit"", ""transducin beta chain 2"""	139390				9799793	Standard	NM_005273		Approved		uc003uwb.3	P62879	OTTHUMG00000137419	ENST00000303210.4:c.457G>A	7.37:g.100275401G>A	ENSP00000305260:p.Asp153Asn					GNB2_ENST00000393924.1_Missense_Mutation_p.D153N|GNB2_ENST00000427895.1_Missense_Mutation_p.D53N|GNB2_ENST00000419828.1_Missense_Mutation_p.D53N|GNB2_ENST00000424361.1_Missense_Mutation_p.D109N|GNB2_ENST00000436220.1_Missense_Mutation_p.D109N|GNB2_ENST00000393926.1_Missense_Mutation_p.D153N	p.D153N	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN			7	939	+	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)	153					B3KPU1|P11016|P54312	Missense_Mutation	SNP	ENST00000303210.4	37	c.457G>A	CCDS5703.1	.	.	.	.	.	.	.	.	.	.	.	13.58	2.280240	0.40294	.	.	ENSG00000172354	ENST00000303210;ENST00000451587;ENST00000436220;ENST00000424361;ENST00000419828;ENST00000427895;ENST00000393926;ENST00000431068;ENST00000393924	T;T;T;T;T;T;T;T;T	0.60424	0.19;0.19;0.19;0.19;0.19;0.19;0.19;0.19;0.19	4.79	4.79	0.61399	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.35008	0.0917	N	0.11364	0.135	0.80722	D	1	B	0.10296	0.003	B	0.17979	0.02	T	0.24728	-1.0152	10	0.02654	T	1	-2.4305	15.3749	0.74596	0.0:0.0:1.0:0.0	.	153	P62879	GBB2_HUMAN	N	153;153;109;109;53;53;153;153;153	ENSP00000305260:D153N;ENSP00000399904:D153N;ENSP00000401873:D109N;ENSP00000389391:D109N;ENSP00000390543:D53N;ENSP00000400286:D53N;ENSP00000377503:D153N;ENSP00000390077:D153N;ENSP00000377501:D153N	ENSP00000305260:D153N	D	+	1	0	GNB2	100113337	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.497000	0.73674	2.489000	0.83994	0.462000	0.41574	GAT		0.627	GNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268391.2	NM_005273		46	42	0	0	0	0.870114	0	46	42				
PLG	5340	broad.mit.edu	37	6	161155067	161155067	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr6:161155067G>A	ENST00000308192.9	+	13	1691	c.1628G>A	c.(1627-1629)tGc>tAc	p.C543Y		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	543	Kringle 5. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GGTCCCTGGTGCTACACGACA	0.473																																						ENST00000308192.9																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59						c.(1627-1629)tGc>tAc		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						253.0	174.0	201.0					6																	161155067		2203	4300	6503	SO:0001583	missense	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161155067G>A	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.1628G>A	6.37:g.161155067G>A	ENSP00000308938:p.Cys543Tyr						p.C543Y	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	13	1691	+			543			Kringle 5.		Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	c.1628G>A	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	.	14.67	2.605133	0.46423	.	.	ENSG00000122194	ENST00000308192	D	0.84944	-1.92	3.98	3.98	0.46160	Kringle (4);Kringle-like fold (1);Kringle, conserved site (1);	0.000000	0.43260	U	0.000585	D	0.95446	0.8521	H	0.99659	4.685	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96683	0.9505	10	0.87932	D	0	.	13.0592	0.58997	0.0:0.0:1.0:0.0	.	543	P00747	PLMN_HUMAN	Y	543	ENSP00000308938:C543Y	ENSP00000308938:C543Y	C	+	2	0	PLG	161075057	1.000000	0.71417	1.000000	0.80357	0.293000	0.27360	7.687000	0.84139	2.037000	0.60232	0.462000	0.41574	TGC		0.473	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		30	31	0	0	0	0.750413	0	30	31				
ACTN1	87	broad.mit.edu	37	14	69349260	69349260	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr14:69349260G>A	ENST00000193403.6	-	16	2251	c.1868C>T	c.(1867-1869)gCc>gTc	p.A623V	ACTN1_ENST00000538545.2_Missense_Mutation_p.A623V|ACTN1_ENST00000376839.3_Missense_Mutation_p.A558V|ACTN1_ENST00000394419.4_Missense_Mutation_p.A623V|ACTN1_ENST00000438964.2_Missense_Mutation_p.A623V	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	623	Interaction with DDN.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of apoptotic process (GO:0042981)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|double-stranded RNA binding (GO:0003725)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|vinculin binding (GO:0017166)	p.A623V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CTGCTGTCGGGCATGCTCCTC	0.612																																						ENST00000193403.6																			1	Substitution - Missense(1)	p.A623V(1)	kidney(1)	breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27						c.(1867-1869)gCc>gTc		actinin, alpha 1							84.0	57.0	66.0					14																	69349260		2203	4300	6503	SO:0001583	missense	87				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding	g.chr14:69349260G>A	M95178	CCDS9792.1, CCDS45129.1, CCDS45130.1	14q24.1	2014-08-08			ENSG00000072110	ENSG00000072110		"""EF-hand domain containing"""	163	protein-coding gene	gene with protein product		102575				2349951	Standard	NM_001102		Approved		uc001xkm.3	P12814	OTTHUMG00000171386	ENST00000193403.6:c.1868C>T	14.37:g.69349260G>A	ENSP00000193403:p.Ala623Val					ACTN1_ENST00000376839.3_Missense_Mutation_p.A558V|ACTN1_ENST00000394419.4_Missense_Mutation_p.A623V|ACTN1_ENST00000538545.2_Missense_Mutation_p.A623V|ACTN1_ENST00000438964.2_Missense_Mutation_p.A623V	p.A623V	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	16	2251	-			623			Interaction with DDN.		B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	Missense_Mutation	SNP	ENST00000193403.6	37	c.1868C>T	CCDS9792.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.68|18.68	3.675668|3.675668	0.67928|0.67928	.|.	.|.	ENSG00000072110|ENSG00000072110	ENST00000193403;ENST00000394419;ENST00000438964;ENST00000376839;ENST00000538545|ENST00000555075	T;T;T;T;T|.	0.68181|.	-0.31;-0.31;-0.31;-0.31;-0.31|.	5.5|5.5	4.57|4.57	0.56435|0.56435	.|.	0.175028|.	0.49305|.	D|.	0.000151|.	T|T	0.68165|0.68165	0.2971|0.2971	L|L	0.49699|0.49699	1.58|1.58	0.80722|0.80722	D|D	1|1	B;B;B;B;B|.	0.19073|.	0.033;0.001;0.002;0.0;0.003|.	B;B;B;B;B|.	0.21917|.	0.037;0.003;0.001;0.002;0.002|.	T|T	0.64419|0.64419	-0.6412|-0.6412	10|5	0.46703|.	T|.	0.11|.	.|.	16.5388|16.5388	0.84380|0.84380	0.0:0.1299:0.8701:0.0|0.0:0.1299:0.8701:0.0	.|.	254;623;623;623;270|.	B7Z2W3;P12814-2;Q1HE25;P12814;B4DFY0|.	.;.;.;ACTN1_HUMAN;.|.	V|S	623;623;623;558;623|9	ENSP00000193403:A623V;ENSP00000377941:A623V;ENSP00000414272:A623V;ENSP00000366035:A558V;ENSP00000439828:A623V|.	ENSP00000193403:A623V|.	A|P	-|-	2|1	0|0	ACTN1|ACTN1	68419013|68419013	1.000000|1.000000	0.71417|0.71417	0.921000|0.921000	0.36526|0.36526	0.970000|0.970000	0.65996|0.65996	7.792000|7.792000	0.85828|0.85828	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	GCC|CCC		0.612	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413233.3	NM_001102		5	129	0	0	0	0.184627	0	5	129				
RPAP1	26015	broad.mit.edu	37	15	41828763	41828763	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr15:41828763T>C	ENST00000304330.4	-	3	382	c.266A>G	c.(265-267)gAg>gGg	p.E89G	RPAP1_ENST00000561603.1_Missense_Mutation_p.E89G	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	89						nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TTCTGGGTCCTCATCCTCAGG	0.527																																						ENST00000304330.4																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45						c.(265-267)gAg>gGg		RNA polymerase II associated protein 1							82.0	77.0	79.0					15																	41828763		2203	4300	6503	SO:0001583	missense	26015					nucleus	DNA binding|DNA-directed RNA polymerase activity	g.chr15:41828763T>C	BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.266A>G	15.37:g.41828763T>C	ENSP00000306123:p.Glu89Gly					RPAP1_ENST00000561603.1_Missense_Mutation_p.E89G	p.E89G	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)	3	382	-		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	89					Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	ENST00000304330.4	37	c.266A>G	CCDS10079.1	.	.	.	.	.	.	.	.	.	.	T	17.60	3.430430	0.62844	.	.	ENSG00000103932	ENST00000304330	D	0.82984	-1.67	5.84	5.84	0.93424	.	0.178527	0.47455	D	0.000234	D	0.82733	0.5101	L	0.59436	1.845	0.58432	D	0.999999	D	0.54047	0.964	P	0.44860	0.462	D	0.85298	0.1071	10	0.87932	D	0	-10.7757	15.1986	0.73116	0.0:0.0:0.0:1.0	.	89	Q9BWH6	RPAP1_HUMAN	G	89	ENSP00000306123:E89G	ENSP00000306123:E89G	E	-	2	0	RPAP1	39616055	1.000000	0.71417	0.998000	0.56505	0.661000	0.39034	4.458000	0.60095	2.228000	0.72767	0.482000	0.46254	GAG		0.527	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540		3	216	0	0	0	0.115264	0	3	216				
GABBR1	2550	broad.mit.edu	37	6	29572395	29572395	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr6:29572395C>T	ENST00000377034.4	-	22	2923	c.2588G>A	c.(2587-2589)cGa>cAa	p.R863Q	GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000377012.4_Missense_Mutation_p.R746Q|GABBR1_ENST00000355973.3_Missense_Mutation_p.R746Q|GABBR1_ENST00000377016.4_Missense_Mutation_p.R801Q	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	863					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)	p.R863Q(1)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	CCATTCCCCTCGGGTGATCAG	0.592																																						ENST00000377034.4																			1	Substitution - Missense(1)	p.R863Q(1)	large_intestine(1)	endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2587-2589)cGa>cAa		gamma-aminobutyric acid (GABA) B receptor, 1	Baclofen(DB00181)|Progabide(DB00837)						128.0	106.0	114.0					6																	29572395		1510	2709	4219	SO:0001583	missense	2550				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr6:29572395C>T	Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.2588G>A	6.37:g.29572395C>T	ENSP00000366233:p.Arg863Gln					GABBR1_ENST00000355973.3_Missense_Mutation_p.R746Q|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000377012.4_Missense_Mutation_p.R746Q|GABBR1_ENST00000377016.4_Missense_Mutation_p.R801Q	p.R863Q	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN			22	2923	-			863					B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Missense_Mutation	SNP	ENST00000377034.4	37	c.2588G>A	CCDS4663.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.947174	0.92593	.	.	ENSG00000204681	ENST00000355973;ENST00000377016;ENST00000377012;ENST00000377034	D;D;D;T	0.83755	-1.76;-1.66;-1.76;-0.54	4.74	4.74	0.60224	GPCR, family 3, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.81889	0.4918	L	0.29908	0.895	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.77557	0.99;0.978;0.978	T	0.79787	-0.1656	10	0.30078	T	0.28	-1.1847	15.6169	0.76775	0.0:1.0:0.0:0.0	.	801;863;746	Q9UBS5-3;Q9UBS5;Q5SUJ9	.;GABR1_HUMAN;.	Q	746;801;746;863	ENSP00000348248:R746Q;ENSP00000366215:R801Q;ENSP00000366211:R746Q;ENSP00000366233:R863Q	ENSP00000348248:R746Q	R	-	2	0	GABBR1	29680374	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.099000	0.76981	2.639000	0.89480	0.655000	0.94253	CGA		0.592	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			4	214	0	0	0	0.150653	0	4	214				
COL3A1	1281	broad.mit.edu	37	2	189854843	189854843	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr2:189854843C>T	ENST00000304636.3	+	9	882	c.712C>T	c.(712-714)Cga>Tga	p.R238*	COL3A1_ENST00000317840.5_Nonsense_Mutation_p.R238*	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	238	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.R238*(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	TAGACCCGGACGACCTGGAGA	0.383																																						ENST00000304636.3																			1	Substitution - Nonsense(1)	p.R238*(1)	large_intestine(1)	NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126						c.(712-714)Cga>Tga		collagen, type III, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						71.0	73.0	72.0					2																	189854843		2203	4300	6503	SO:0001587	stop_gained	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189854843C>T	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.712C>T	2.37:g.189854843C>T	ENSP00000304408:p.Arg238*					COL3A1_ENST00000317840.5_Nonsense_Mutation_p.R238*	p.R238*	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		9	882	+			238			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Nonsense_Mutation	SNP	ENST00000304636.3	37	c.712C>T	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	C	37	6.349121	0.97494	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	.	.	.	5.68	2.7	0.31948	.	0.000000	0.42420	D	0.000707	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	15.3924	0.74755	0.6901:0.3099:0.0:0.0	.	.	.	.	X	238	.	ENSP00000304408:R238X	R	+	1	2	COL3A1	189563088	0.432000	0.25554	0.966000	0.40874	0.935000	0.57460	1.056000	0.30480	0.328000	0.23435	0.591000	0.81541	CGA		0.383	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		35	73	0	0	0	0.804634	0	35	73				
NUP93	9688	broad.mit.edu	37	16	56872869	56872869	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr16:56872869G>T	ENST00000308159.5	+	19	2145	c.2024G>T	c.(2023-2025)aGg>aTg	p.R675M	NUP93_ENST00000542526.1_Missense_Mutation_p.R552M|NUP93_ENST00000569842.1_Missense_Mutation_p.R675M|NUP93_ENST00000564887.1_Missense_Mutation_p.R552M	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	675					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TTCAGGTATAGGGCTCAAGGA	0.393																																					Colon(33;610 796 1305 1705 38917)	ENST00000564887.1																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(1654-1656)aGg>aTg		nucleoporin 93kDa							171.0	156.0	161.0					16																	56872869		2198	4300	6498	SO:0001583	missense	9688				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr16:56872869G>T	D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.2024G>T	16.37:g.56872869G>T	ENSP00000310668:p.Arg675Met					NUP93_ENST00000542526.1_Missense_Mutation_p.R552M|NUP93_ENST00000569842.1_Missense_Mutation_p.R675M|NUP93_ENST00000308159.5_Missense_Mutation_p.R675M	p.R552M	NM_001242795.1	NP_001229724.1	Q8N1F7	NUP93_HUMAN			17	2284	+			675					B3KPQ8|Q14705	Missense_Mutation	SNP	ENST00000308159.5	37	c.1655G>T	CCDS10769.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.487066	0.84854	.	.	ENSG00000102900	ENST00000308159;ENST00000542526	T;T	0.44083	0.93;0.93	6.14	6.14	0.99180	.	0.129353	0.64402	D	0.000001	T	0.50326	0.1609	L	0.55481	1.735	0.47123	D	0.999328	P	0.39282	0.666	P	0.52481	0.7	T	0.48980	-0.8986	10	0.46703	T	0.11	-11.2664	8.1268	0.31003	0.1802:0.0:0.8198:0.0	.	675	Q8N1F7	NUP93_HUMAN	M	675;552	ENSP00000310668:R675M;ENSP00000440235:R552M	ENSP00000310668:R675M	R	+	2	0	NUP93	55430370	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	5.941000	0.70195	2.937000	0.99478	0.650000	0.86243	AGG		0.393	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257058.4	NM_014669		4	186	1	0	0.00909568	0.150653	0.0100259	4	186				
RENBP	5973	broad.mit.edu	37	X	153209359	153209359	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chrX:153209359C>T	ENST00000393700.3	-	4	357	c.277G>A	c.(277-279)Gca>Aca	p.A93T	RENBP_ENST00000369997.3_Missense_Mutation_p.A79T|RENBP_ENST00000462086.1_5'Flank|RENBP_ENST00000412763.1_Missense_Mutation_p.A93T	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	93					N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)|regulation of blood pressure (GO:0008217)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|endopeptidase inhibitor activity (GO:0004866)|N-acylglucosamine 2-epimerase activity (GO:0050121)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	GCTTTTGCTGCGTCCAGAAGC	0.577																																						ENST00000412763.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(277-279)Gca>Aca		renin binding protein	N-Acetyl-D-glucosamine(DB00141)						70.0	50.0	57.0					X																	153209359		2174	4262	6436	SO:0001583	missense	5973				mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity	g.chrX:153209359C>T		CCDS14738.2	Xq28	2013-09-23	2001-11-28		ENSG00000102032	ENSG00000102032			9959	protein-coding gene	gene with protein product	"""N-acylglucosamine 2-epimerase"", ""GlcNAc 2-epimerase"", ""N-acetyl-D-glucosamine 2-epimerase"""	312420	"""renin-binding protein"""			1618798	Standard	NM_002910		Approved	RNBP, RBP	uc004fjo.2	P51606	OTTHUMG00000024224	ENST00000393700.3:c.277G>A	X.37:g.153209359C>T	ENSP00000377303:p.Ala93Thr					RENBP_ENST00000369997.3_Missense_Mutation_p.A79T|RENBP_ENST00000393700.3_Missense_Mutation_p.A93T	p.A93T			P51606	RENBP_HUMAN			4	446	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		93					B4DNZ3|Q96BI6	Missense_Mutation	SNP	ENST00000393700.3	37	c.277G>A	CCDS14738.2	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842592	0.51057	.	.	ENSG00000102032	ENST00000393700;ENST00000412763;ENST00000369997	T;T;T	0.33216	1.42;1.47;1.42	4.75	-9.51	0.00581	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.187348	0.44097	D	0.000483	T	0.53077	0.1774	M	0.89715	3.055	0.28793	N	0.899229	D;D	0.76494	0.999;0.999	P;D	0.64506	0.879;0.926	T	0.73852	-0.3852	10	0.40728	T	0.16	-0.0388	18.9495	0.92636	0.1031:0.8247:0.0:0.0721	.	93;93	P51606-2;P51606	.;RENBP_HUMAN	T	93;93;79	ENSP00000377303:A93T;ENSP00000387811:A93T;ENSP00000359014:A79T	ENSP00000359014:A79T	A	-	1	0	RENBP	152862553	0.022000	0.18835	0.000000	0.03702	0.094000	0.18550	0.279000	0.18771	-3.050000	0.00260	-0.364000	0.07487	GCA		0.577	RENBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061103.3	NM_002910		6	0	0	0	0	0.217242	0	6	0				
HMGCR	3156	broad.mit.edu	37	5	74651207	74651207	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr5:74651207C>A	ENST00000287936.4	+	14	1896	c.1740C>A	c.(1738-1740)agC>agA	p.S580R	HMGCR_ENST00000511206.1_Missense_Mutation_p.S580R|HMGCR_ENST00000343975.5_Missense_Mutation_p.S527R	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	580	Catalytic.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|coenzyme A metabolic process (GO:0015936)|isoprenoid biosynthetic process (GO:0008299)|myoblast differentiation (GO:0045445)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of vasodilation (GO:0045908)|negative regulation of wound healing (GO:0061045)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein tetramerization (GO:0051262)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|ubiquinone metabolic process (GO:0006743)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)	coenzyme binding (GO:0050662)|hydroxymethylglutaryl-CoA reductase (NADPH) activity (GO:0004420)|hydroxymethylglutaryl-CoA reductase activity (GO:0042282)|NADPH binding (GO:0070402)			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	GAGGTGCCAGCAGCCGAGTCC	0.493																																						ENST00000287936.4																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20						c.(1738-1740)agC>agA		3-hydroxy-3-methylglutaryl-CoA reductase	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)						184.0	177.0	179.0					5																	74651207		2203	4300	6503	SO:0001583	missense	3156				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding	g.chr5:74651207C>A		CCDS4027.1, CCDS47234.1	5q13.3-q14	2012-10-02	2010-04-30		ENSG00000113161	ENSG00000113161	1.1.1.88, 1.1.1.34		5006	protein-coding gene	gene with protein product	"""hydroxymethylglutaryl-CoA reductase"", ""3-hydroxy-3-methylglutaryl CoA reductase (NADPH)"""	142910	"""3-hydroxy-3-methylglutaryl-Coenzyme A reductase"""				Standard	NM_000859		Approved		uc003kdp.3	P04035	OTTHUMG00000102069	ENST00000287936.4:c.1740C>A	5.37:g.74651207C>A	ENSP00000287936:p.Ser580Arg					HMGCR_ENST00000343975.5_Missense_Mutation_p.S527R|HMGCR_ENST00000511206.1_Missense_Mutation_p.S580R	p.S580R	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	14	1896	+		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	580			Catalytic.		B7Z3Y9|Q8N190	Missense_Mutation	SNP	ENST00000287936.4	37	c.1740C>A	CCDS4027.1	.	.	.	.	.	.	.	.	.	.	C	6.879	0.531621	0.13127	.	.	ENSG00000113161	ENST00000511206;ENST00000544469;ENST00000287936;ENST00000343975	T;T;T	0.40756	1.02;1.02;1.02	6.17	4.27	0.50696	Hydroxymethylglutaryl-CoA reductase, class I/II, catalytic domain (1);Hydroxymethylglutaryl-CoA reductase, class I/II, substrate-binding (1);	0.324055	0.46758	D	0.000272	T	0.18341	0.0440	N	0.08118	0	0.45087	D	0.998107	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.002;0.003	T	0.16600	-1.0397	10	0.30854	T	0.27	-18.0928	3.4188	0.07385	0.1152:0.5211:0.2155:0.1483	.	580;527;580	B2R649;P04035-2;P04035	.;.;HMDH_HUMAN	R	580;511;580;527	ENSP00000426745:S580R;ENSP00000287936:S580R;ENSP00000340816:S527R	ENSP00000287936:S580R	S	+	3	2	HMGCR	74686963	0.530000	0.26330	1.000000	0.80357	0.998000	0.95712	-0.050000	0.11904	2.941000	0.99782	0.655000	0.94253	AGC		0.493	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219877.2			94	160	1	0	8.45e-40	0.870114	1.01191e-39	94	160				
ACER1	125981	broad.mit.edu	37	19	6309770	6309770	+	Silent	SNP	G	G	A	rs368558992		TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr19:6309770G>A	ENST00000301452.4	-	4	503	c.426C>T	c.(424-426)aaC>aaT	p.N142N		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	142					cell differentiation (GO:0030154)|cellular response to calcium ion (GO:0071277)|ceramide catabolic process (GO:0046514)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|regulation of lipid metabolic process (GO:0019216)|response to alkaline pH (GO:0010446)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ceramidase activity (GO:0017040)|dihydroceramidase activity (GO:0071633)			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						GGGCGTAGGCGTTGACCGTGG	0.607																																						ENST00000301452.4																			0				NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						c.(424-426)aaC>aaT		alkaline ceramidase 1		G		0,4406		0,0,2203	147.0	107.0	121.0		426	-2.3	0.3	19		121	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ACER1	NM_133492.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		142/265	6309770	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	125981					endoplasmic reticulum membrane|integral to membrane	ceramidase activity	g.chr19:6309770G>A	AF347024	CCDS12161.1	19p13.3	2013-01-25	2008-12-19	2008-12-19	ENSG00000167769	ENSG00000167769	3.5.1.23	"""Alkaline ceramidase"""	18356	protein-coding gene	gene with protein product		613491	"""N-acylsphingosine amidohydrolase (alkaline ceramidase) 3"""	ASAH3		12783875	Standard	NM_133492		Approved		uc002mel.2	Q8TDN7		ENST00000301452.4:c.426C>T	19.37:g.6309770G>A							p.N142N	NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN			4	503	-			142						Silent	SNP	ENST00000301452.4	37	c.426C>T	CCDS12161.1																																																																																				0.607	ACER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452982.1	NM_133492		81	109	0	0	0	0.870114	0	81	109				
C11orf16	56673	broad.mit.edu	37	11	8942935	8942935	+	Silent	SNP	C	C	A	rs202215791		TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr11:8942935C>A	ENST00000326053.5	-	6	1438	c.1332G>T	c.(1330-1332)ccG>ccT	p.P444P	C11orf16_ENST00000525780.1_Intron	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	444										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		CTTCCCCTGGCGGGGTCCGCG	0.517																																						ENST00000326053.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22						c.(1330-1332)ccG>ccT		chromosome 11 open reading frame 16							129.0	122.0	125.0					11																	8942935		2201	4296	6497	SO:0001819	synonymous_variant	56673							g.chr11:8942935C>A	AJ400877	CCDS7794.1	11p15.3	2008-06-25			ENSG00000176029	ENSG00000176029			1169	protein-coding gene	gene with protein product						11528127	Standard	NM_020643		Approved		uc001mhb.4	Q9NQ32	OTTHUMG00000165654	ENST00000326053.5:c.1332G>T	11.37:g.8942935C>A						C11orf16_ENST00000525780.1_Intron	p.P444P	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN		Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)	6	1438	-			444					Q53FB2|Q8N6Y9	Silent	SNP	ENST00000326053.5	37	c.1332G>T	CCDS7794.1																																																																																				0.517	C11orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385626.1	NM_020643		4	284	1	0	0.00909568	0.150653	0.0100259	4	284				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	131	0	0	0	0.115264	0	3	131				
SPAG1	6674	broad.mit.edu	37	8	101206583	101206583	+	Intron	SNP	C	C	T			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr8:101206583C>T	ENST00000388798.2	+	10	1287				SPAG1_ENST00000520508.1_Missense_Mutation_p.R395C|SPAG1_ENST00000251809.3_Intron|SPAG1_ENST00000520643.1_Missense_Mutation_p.R395C	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1						axonemal dynein complex assembly (GO:0070286)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		TACAGAAATTCGTAATCTATC	0.328																																						ENST00000520508.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30						c.(1183-1185)Cgt>Tgt		sperm associated antigen 1																																				SO:0001627	intron_variant	6674				single fertilization	cytoplasm	GTP binding|hydrolase activity	g.chr8:101206583C>T	AF311312	CCDS34930.1	8q22	2014-01-21			ENSG00000104450	ENSG00000104450		"""Tetratricopeptide (TTC) repeat domain containing"""	11212	protein-coding gene	gene with protein product		603395				16368546	Standard	NM_172218		Approved	SP75, FLJ32920, HSD-3.8, TPIS, CT140	uc003yjh.2	Q07617	OTTHUMG00000164706	ENST00000388798.2:c.1096+87C>T	8.37:g.101206583C>T						SPAG1_ENST00000388798.2_Intron|SPAG1_ENST00000251809.3_Intron|SPAG1_ENST00000520643.1_Missense_Mutation_p.R395C	p.R395C			Q07617	SPAG1_HUMAN	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)	10	1467	+	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	0					A6NP70|B3KQ58|G3XAM3|Q7Z5G1	Missense_Mutation	SNP	ENST00000388798.2	37	c.1183C>T	CCDS34930.1	.	.	.	.	.	.	.	.	.	.	C	8.606	0.887977	0.17540	.	.	ENSG00000104450	ENST00000520643;ENST00000520508	T;T	0.12465	2.68;2.68	4.63	-1.88	0.07713	.	.	.	.	.	T	0.09202	0.0227	.	.	.	0.09310	N	1	P	0.45044	0.849	B	0.38562	0.276	T	0.22695	-1.0209	8	0.87932	D	0	.	5.6055	0.17377	0.0:0.3071:0.4568:0.2361	.	395	G3XAM3	.	C	395	ENSP00000427716:R395C;ENSP00000428070:R395C	ENSP00000428070:R395C	R	+	1	0	SPAG1	101275759	0.000000	0.05858	0.129000	0.21949	0.123000	0.20343	0.142000	0.16096	-0.207000	0.10187	0.484000	0.47621	CGT		0.328	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379853.2	NM_172218		3	12	0	0	0	0.115264	0	3	12				
SYNCRIP	10492	broad.mit.edu	37	6	86324547	86324547	+	Missense_Mutation	SNP	T	T	A	rs147197492		TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr6:86324547T>A	ENST00000369622.3	-	11	2299	c.1799A>T	c.(1798-1800)cAt>cTt	p.H600L	RP11-321N4.5_ENST00000503906.1_Intron|SYNCRIP_ENST00000355238.6_Intron	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	600					cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		GTTACCAGAATGATCACCACC	0.478																																						ENST00000369622.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(1798-1800)cAt>cTt		synaptotagmin binding, cytoplasmic RNA interacting protein		T	LEU/HIS,LEU/HIS,,,,	0,4406		0,0,2203	102.0	102.0	102.0		1694,1799,,,,	5.3	1.0	6	dbSNP_134	102	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,intron,intron,intron,intron	SYNCRIP	NM_001159675.1,NM_006372.4,NM_001159673.1,NM_001159674.1,NM_001159676.1,NM_001159677.1	99,99,,,,	0,1,6502	AA,AT,TT		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,,,,	565/589,600/624,,,,	86324547	1,13005	2203	4300	6503	SO:0001583	missense	10492				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding	g.chr6:86324547T>A	AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"""RNA binding motif (RRM) containing"""	16918	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein Q"""					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.1799A>T	6.37:g.86324547T>A	ENSP00000358635:p.His600Leu					RP11-321N4.5_ENST00000503906.1_Intron|SYNCRIP_ENST00000355238.6_Intron	p.H600L	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0389)	11	2299	-		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)	600					E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Missense_Mutation	SNP	ENST00000369622.3	37	c.1799A>T	CCDS5005.1	.	.	.	.	.	.	.	.	.	.	T	13.02	2.113769	0.37339	0.0	1.16E-4	ENSG00000135316	ENST00000369622	T	0.26660	1.72	5.32	5.32	0.75619	.	0.097833	0.64402	D	0.000001	T	0.04952	0.0133	N	0.08118	0	0.58432	D	0.999997	P;P	0.42518	0.675;0.782	B;B	0.29077	0.045;0.098	T	0.26643	-1.0097	10	0.25106	T	0.35	.	15.277	0.73750	0.0:0.0:0.0:1.0	.	600;565	O60506;O60506-2	HNRPQ_HUMAN;.	L	600	ENSP00000358635:H600L	ENSP00000358635:H600L	H	-	2	0	SYNCRIP	86381266	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.222000	0.72249	2.013000	0.59113	0.533000	0.62120	CAT		0.478	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1	NM_006372		90	113	0	0	0	0.870114	0	90	113				
DAGLA	747	broad.mit.edu	37	11	61488167	61488167	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr11:61488167G>A	ENST00000257215.5	+	3	228	c.112G>A	c.(112-114)Gtg>Atg	p.V38M		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	38					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GATCCTGTCCGTGGTGCTCTT	0.637																																						ENST00000257215.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43						c.(112-114)Gtg>Atg		diacylglycerol lipase, alpha							84.0	77.0	80.0					11																	61488167		2202	4299	6501	SO:0001583	missense	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61488167G>A	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.112G>A	11.37:g.61488167G>A	ENSP00000257215:p.Val38Met						p.V38M	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	3	228	+			38					A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	c.112G>A	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446832	0.84101	.	.	ENSG00000134780	ENST00000257215	T	0.29397	1.57	4.43	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.54822	0.1882	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.61163	-0.7118	10	0.87932	D	0	-26.7494	17.4538	0.87600	0.0:0.0:1.0:0.0	.	38	Q9Y4D2	DGLA_HUMAN	M	38	ENSP00000257215:V38M	ENSP00000257215:V38M	V	+	1	0	DAGLA	61244743	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	9.131000	0.94446	2.175000	0.68902	0.561000	0.74099	GTG		0.637	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		48	60	0	0	0	0.870114	0	48	60				
ZFYVE19	84936	broad.mit.edu	37	15	41102895	41102895	+	Silent	SNP	C	C	T			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr15:41102895C>T	ENST00000355341.4	+	6	1267	c.766C>T	c.(766-768)Ctg>Ttg	p.L256L	ZFYVE19_ENST00000570108.1_Silent_p.L233L|ZFYVE19_ENST00000564258.1_Silent_p.L81L|ZFYVE19_ENST00000299173.10_Silent_p.L256L|ZFYVE19_ENST00000336455.5_Silent_p.L246L	NM_001077268.1	NP_001070736.1	Q96K21	ANCHR_HUMAN	zinc finger, FYVE domain containing 19	256					abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis checkpoint (GO:0031565)|negative regulation of cytokinesis (GO:0032466)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|midbody (GO:0030496)	phosphatidylinositol-3-phosphate binding (GO:0032266)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GACACAGGATCTGCTAACGCA	0.592																																						ENST00000355341.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9						c.(766-768)Ctg>Ttg		zinc finger, FYVE domain containing 19							27.0	33.0	31.0					15																	41102895		2063	4196	6259	SO:0001819	synonymous_variant	84936						zinc ion binding	g.chr15:41102895C>T	AK027746	CCDS42025.1, CCDS58353.1, CCDS58354.1, CCDS58355.1	15q14	2008-05-02				ENSG00000166140		"""Zinc fingers, FYVE domain containing"""	20758	protein-coding gene	gene with protein product							Standard	NM_001077268		Approved	FLJ14840	uc031qrk.1	Q96K21		ENST00000355341.4:c.766C>T	15.37:g.41102895C>T						ZFYVE19_ENST00000336455.5_Silent_p.L246L|ZFYVE19_ENST00000299173.10_Silent_p.L256L|ZFYVE19_ENST00000564258.1_Silent_p.L81L|ZFYVE19_ENST00000570108.1_Silent_p.L233L	p.L256L	NM_001077268.1	NP_001070736.1	Q96K21	ZFY19_HUMAN		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)	6	1267	+		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	256					B3KVB2|C9JNF4|H3BUF9|Q86WC2|Q8WU96	Silent	SNP	ENST00000355341.4	37	c.766C>T	CCDS42025.1																																																																																				0.592	ZFYVE19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418996.1	NM_032850		2	8	0	0	0	0.115264	0	2	8				
DMWD	1762	broad.mit.edu	37	19	46289911	46289911	+	Silent	SNP	C	C	T	rs375340062		TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr19:46289911C>T	ENST00000270223.6	-	3	888	c.843G>A	c.(841-843)gcG>gcA	p.A281A	DMWD_ENST00000377735.3_Silent_p.A281A|DMWD_ENST00000601370.1_5'Flank|AC011530.4_ENST00000593999.1_5'Flank	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	281										central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		CCTCACCCACCGCCCACTTGG	0.677																																						ENST00000270223.6																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(841-843)gcG>gcA		dystrophia myotonica, WD repeat containing		C		1,4405	2.1+/-5.4	0,1,2202	28.0	33.0	31.0		843	-6.1	1.0	19		31	0,8598		0,0,4299	no	coding-synonymous	DMWD	NM_004943.1		0,1,6501	TT,TC,CC		0.0,0.0227,0.0077		281/675	46289911	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	1762				meiosis			g.chr19:46289911C>T	L19267	CCDS33054.1	19q13.32	2013-01-09	2007-02-20		ENSG00000185800	ENSG00000185800		"""WD repeat domain containing"""	2936	protein-coding gene	gene with protein product		609857	"""dystrophia myotonica-containing WD repeat motif"""			1302022	Standard	NM_004943		Approved	DMR-N9, gene59, D19S593E	uc021uwc.1	Q09019	OTTHUMG00000169044	ENST00000270223.6:c.843G>A	19.37:g.46289911C>T						DMWD_ENST00000377735.3_Silent_p.A281A	p.A281A	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)	3	888	-		Ovarian(192;0.0308)|all_neural(266;0.112)	281						Silent	SNP	ENST00000270223.6	37	c.843G>A	CCDS33054.1																																																																																				0.677	DMWD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402063.1	NM_004943		41	54	0	0	0	0.827153	0	41	54				
PCDHA3	56145	broad.mit.edu	37	5	140181621	140181621	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr5:140181621C>G	ENST00000522353.2	+	1	839	c.839C>G	c.(838-840)tCt>tGt	p.S280C	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.S280C|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	280	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCGCGTATTCTTTCAATACG	0.388																																						ENST00000522353.2																			0				NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(838-840)tCt>tGt									96.0	94.0	95.0					5																	140181621		2203	4300	6503	SO:0001583	missense	56145							g.chr5:140181621C>G	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.839C>G	5.37:g.140181621C>G	ENSP00000429808:p.Ser280Cys					PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.S280C|PCDHA2_ENST00000520672.2_Intron	p.S280C	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	839	+								O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.839C>G	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	c	6.109	0.388378	0.11581	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.56275	0.47;0.47	4.79	3.92	0.45320	Cadherin (4);Cadherin-like (1);	0.000000	0.39341	U	0.001390	T	0.79034	0.4378	H	0.98559	4.265	0.09310	N	0.999999	D;D	0.89917	1.0;0.999	D;D	0.77557	0.979;0.99	T	0.72030	-0.4413	10	0.87932	D	0	.	4.5601	0.12156	0.2753:0.5157:0.1334:0.0756	.	280;280	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	C	280	ENSP00000429808:S280C;ENSP00000434086:S280C	ENSP00000429808:S280C	S	+	2	0	PCDHA3	140161805	0.000000	0.05858	0.986000	0.45419	0.018000	0.09664	0.374000	0.20501	1.145000	0.42336	-0.470000	0.05040	TCT		0.388	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		69	78	0	0	0	0.870114	0	69	78				
ABCG1	9619	broad.mit.edu	37	21	43704767	43704767	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr21:43704767G>A	ENST00000361802.2	+	7	977	c.832G>A	c.(832-834)Gcc>Acc	p.A278T	ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398449.3_Missense_Mutation_p.A278T|ABCG1_ENST00000398457.2_Missense_Mutation_p.A280T|ABCG1_ENST00000347800.2_Missense_Mutation_p.A275T|ABCG1_ENST00000343687.3_Missense_Mutation_p.A289T|ABCG1_ENST00000398437.1_Missense_Mutation_p.A424T|ABCG1_ENST00000340588.4_Missense_Mutation_p.A386T	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	278	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	CCAGCCCAGCGCCAAACTCTT	0.637																																						ENST00000398437.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29						c.(1270-1272)Gcc>Acc		ATP-binding cassette, sub-family G (WHITE), member 1	Adenosine triphosphate(DB00171)						81.0	80.0	80.0					21																	43704767		2203	4300	6503	SO:0001583	missense	9619				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity	g.chr21:43704767G>A	U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"""ATP binding cassette transporters / subfamily G"""	73	protein-coding gene	gene with protein product	"""ATP-binding cassette transporter 8"""	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.832G>A	21.37:g.43704767G>A	ENSP00000354995:p.Ala278Thr					ABCG1_ENST00000398457.2_Missense_Mutation_p.A280T|ABCG1_ENST00000361802.2_Missense_Mutation_p.A278T|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000343687.3_Missense_Mutation_p.A289T|ABCG1_ENST00000398449.3_Missense_Mutation_p.A278T|ABCG1_ENST00000347800.2_Missense_Mutation_p.A275T|ABCG1_ENST00000340588.4_Missense_Mutation_p.A386T	p.A424T			P45844	ABCG1_HUMAN			8	1418	+			278			ABC transmembrane type-2.		Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Missense_Mutation	SNP	ENST00000361802.2	37	c.1270G>A	CCDS13682.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.332779|5.332779	0.95733|0.95733	.|.	.|.	ENSG00000160179|ENSG00000160179	ENST00000398457;ENST00000347800;ENST00000398449;ENST00000361802;ENST00000343687;ENST00000398437;ENST00000340588|ENST00000489035;ENST00000469119;ENST00000482161	T;T;T;T;T;T;T|.	0.35421|.	1.31;1.31;1.31;1.31;1.31;1.31;1.31|.	4.22|4.22	4.22|4.22	0.49857|0.49857	ATPase, AAA+ type, core (1);ABC transporter-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.50343|0.50343	0.1610|0.1610	N|N	0.16903|0.16903	0.455|0.455	0.80722|0.80722	D|D	1|1	D;P;D;P;P;D|.	0.89917|.	0.998;0.758;1.0;0.582;0.758;0.999|.	P;B;D;B;B;D|.	0.80764|.	0.888;0.358;0.963;0.18;0.249;0.994|.	T|T	0.47724|0.47724	-0.9095|-0.9095	9|5	.|.	.|.	.|.	-33.3836|-33.3836	16.969|16.969	0.86294|0.86294	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	289;289;278;278;275;280|.	B4DPT7;P45844-2;P45844;P45844-4;P45844-5;P45844-3|.	.;.;ABCG1_HUMAN;.;.;.|.	T|H	280;275;278;278;289;424;386|13	ENSP00000381475:A280T;ENSP00000291524:A275T;ENSP00000381467:A278T;ENSP00000354995:A278T;ENSP00000339744:A289T;ENSP00000381464:A424T;ENSP00000343820:A386T|.	.|.	A|R	+|+	1|2	0|0	ABCG1|ABCG1	42577836|42577836	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.991000|0.991000	0.79684|0.79684	9.328000|9.328000	0.96403|0.96403	2.065000|2.065000	0.61736|0.61736	0.591000|0.591000	0.81541|0.81541	GCC|CGC		0.637	ABCG1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195318.2	NM_207174		7	209	0	0	0	0.307466	0	7	209				
IFRD2	7866	broad.mit.edu	37	3	50326114	50326114	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr3:50326114C>T	ENST00000429673.2	-	10	1243	c.1244G>A	c.(1243-1245)cGc>cAc	p.R415H	IFRD2_ENST00000484043.1_5'Flank|IFRD2_ENST00000417626.2_Missense_Mutation_p.R351H|IFRD2_ENST00000336089.4_Missense_Mutation_p.R517H|IFRD2_ENST00000436390.1_Missense_Mutation_p.R351H			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	415						nucleus (GO:0005634)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AAAGCCGAAGCGCACTATCTC	0.597																																						ENST00000436390.1																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14						c.(1051-1053)cGc>cAc		interferon-related developmental regulator 2							67.0	71.0	69.0					3																	50326114		2134	4235	6369	SO:0001583	missense	7866						binding	g.chr3:50326114C>T	U09585		3p21.3	2008-07-18			ENSG00000214706	ENSG00000214706			5457	protein-coding gene	gene with protein product	"""interferon-related protein"""	602725				9050919	Standard	NM_006764		Approved	SKMc15, SM15, IFNRP	uc011bdp.2	Q12894	OTTHUMG00000156935	ENST00000429673.2:c.1244G>A	3.37:g.50326114C>T	ENSP00000398971:p.Arg415His					IFRD2_ENST00000417626.2_Missense_Mutation_p.R351H|IFRD2_ENST00000336089.4_Missense_Mutation_p.R517H|IFRD2_ENST00000429673.2_Missense_Mutation_p.R415H	p.R351H			Q12894	IFRD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	13	1549	-			415					Q9BVB4|Q9UJ88	Missense_Mutation	SNP	ENST00000429673.2	37	c.1052G>A	CCDS46831.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.010476	0.54361	.	.	ENSG00000214706	ENST00000417626;ENST00000436390;ENST00000336089;ENST00000429673	T;T;T;T	0.54071	0.63;0.63;0.59;0.6	5.53	4.43	0.53597	.	0.274156	0.36519	N	0.002553	T	0.34803	0.0910	L	0.47716	1.5	0.42227	D	0.991872	P;P	0.40250	0.456;0.709	B;B	0.23716	0.027;0.048	T	0.40289	-0.9571	10	0.66056	D	0.02	-22.1513	5.7883	0.18347	0.0:0.7761:0.0:0.2239	.	415;517	Q12894;Q9UJ88	IFRD2_HUMAN;.	H	351;351;517;415	ENSP00000402849:R351H;ENSP00000392316:R351H;ENSP00000336936:R517H;ENSP00000398971:R415H	ENSP00000336936:R517H	R	-	2	0	IFRD2	50301118	0.820000	0.29190	0.998000	0.56505	0.922000	0.55478	1.187000	0.32090	2.769000	0.95229	0.655000	0.94253	CGC		0.597	IFRD2-202	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006764		18	2	0	0	0	0.520397	0	18	2				
FZD3	7976	broad.mit.edu	37	8	28384970	28384970	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr8:28384970C>A	ENST00000240093.3	+	5	1171	c.693C>A	c.(691-693)ttC>ttA	p.F231L	FZD3_ENST00000537916.1_Missense_Mutation_p.F231L|RNA5SP259_ENST00000365541.1_RNA	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	231					canonical Wnt signaling pathway (GO:0060070)|cell proliferation in midbrain (GO:0033278)|commissural neuron axon guidance (GO:0071679)|establishment of planar polarity (GO:0001736)|facial nucleus development (GO:0021754)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|post-anal tail morphogenesis (GO:0036342)|vasculature development (GO:0001944)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|neuron projection membrane (GO:0032589)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		TCACAAGATTCCGTTATCCTG	0.353																																						ENST00000240093.3																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41						c.(691-693)ttC>ttA		frizzled family receptor 3							115.0	116.0	116.0					8																	28384970		2203	4300	6503	SO:0001583	missense	7976				canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding	g.chr8:28384970C>A	AJ272427	CCDS6069.1	8p21	2014-06-27	2014-01-29		ENSG00000104290	ENSG00000104290		"""GPCR / Class F : Frizzled receptors"""	4041	protein-coding gene	gene with protein product		606143	"""frizzled (Drosophila) homolog 3"", ""frizzled homolog 3 (Drosophila)"", ""frizzled 3, seven transmembrane spanning receptor"", ""frizzled family receptor 3"""			10777673, 10873558	Standard	NM_145866		Approved		uc010lvb.3	Q9NPG1	OTTHUMG00000102145	ENST00000240093.3:c.693C>A	8.37:g.28384970C>A	ENSP00000240093:p.Phe231Leu					FZD3_ENST00000537916.1_Missense_Mutation_p.F231L	p.F231L	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)	5	1171	+		Ovarian(32;2.06e-05)	231					A8K615	Missense_Mutation	SNP	ENST00000240093.3	37	c.693C>A	CCDS6069.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230210	0.58777	.	.	ENSG00000104290	ENST00000537916;ENST00000240093	D;D	0.84589	-1.87;-1.87	5.24	2.46	0.29980	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.91379	0.7280	M	0.86502	2.82	0.58432	D	0.99999	D	0.89917	1.0	D	0.97110	1.0	D	0.89109	0.3495	10	0.87932	D	0	.	6.9346	0.24459	0.0:0.6538:0.1271:0.2191	.	231	Q9NPG1	FZD3_HUMAN	L	231	ENSP00000437489:F231L;ENSP00000240093:F231L	ENSP00000240093:F231L	F	+	3	2	FZD3	28440889	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.736000	0.38187	0.214000	0.20742	0.655000	0.94253	TTC		0.353	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219986.2	NM_145866		86	280	1	0	5.72486e-32	0.870114	6.6905e-32	86	280				
PDE4DIP	9659	broad.mit.edu	37	1	145075769	145075769	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr1:145075769G>A	ENST00000530740.1	-	1	132	c.94C>T	c.(94-96)Cgg>Tgg	p.R32W	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.R32W|PDE4DIP_ENST00000369345.4_Missense_Mutation_p.R32W|PDE4DIP_ENST00000369348.3_Missense_Mutation_p.R32W			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCCCCGGACCGGTAAGGCGTG	0.716			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(94-96)Cgg>Tgg		phosphodiesterase 4D interacting protein							45.0	58.0	54.0					1																	145075769		2203	4298	6501	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:145075769G>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000530740.1:c.94C>T	1.37:g.145075769G>A	ENSP00000435654:p.Arg32Trp					PDE4DIP_ENST00000369345.4_Missense_Mutation_p.R32W|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R32W|PDE4DIP_ENST00000369348.3_Missense_Mutation_p.R32W	p.R32W			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	1	132	-			0					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000530740.1	37	c.94C>T		.	.	.	.	.	.	.	.	.	.	G	7.465	0.645461	0.14451	.	.	ENSG00000178104	ENST00000530740;ENST00000369359;ENST00000369348;ENST00000369345	T;T;T	0.05717	5.78;5.81;3.4	3.16	-0.55	0.11825	.	.	.	.	.	T	0.00967	0.0032	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.47100	-0.9143	9	0.51188	T	0.08	.	5.7927	0.18369	0.5294:0.0:0.4706:0.0	.	32;32	Q5TB27;E9PJ64	.;.	W	32	ENSP00000435654:R32W;ENSP00000358366:R32W;ENSP00000358354:R32W	ENSP00000358351:R32W	R	-	1	2	PDE4DIP	143787126	0.002000	0.14202	0.001000	0.08648	0.006000	0.05464	-0.831000	0.04405	-0.230000	0.09840	-0.424000	0.05967	CGG		0.716	PDE4DIP-036	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000384663.2	NM_022359		4	209	0	0	0	0.217242	0	4	209				
FAT4	79633	broad.mit.edu	37	4	126372965	126372965	+	Silent	SNP	A	A	G			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr4:126372965A>G	ENST00000394329.3	+	9	10807	c.10794A>G	c.(10792-10794)ggA>ggG	p.G3598G	FAT4_ENST00000335110.5_Silent_p.G1896G	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3598	Cadherin 34. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTTCCACAGGAACTGTGCATA	0.428																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(10792-10794)ggA>ggG		FAT atypical cadherin 4							86.0	86.0	86.0					4																	126372965		2203	4300	6503	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126372965A>G	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.10794A>G	4.37:g.126372965A>G						FAT4_ENST00000335110.5_Silent_p.G1896G	p.G3598G	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			9	10807	+			3598			Cadherin 34.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.10794A>G	CCDS3732.3																																																																																				0.428	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		125	155	0	0	0	0.870114	0	125	155				
FBXW7	55294	broad.mit.edu	37	4	153247289	153247289	+	Missense_Mutation	SNP	G	G	C	rs149680468		TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr4:153247289G>C	ENST00000281708.4	-	10	2742	c.1513C>G	c.(1513-1515)Cgc>Ggc	p.R505G	FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	505			R -> L (in an ovarian cancer cell line). {ECO:0000269|PubMed:11565033, ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAACACAGCGGACTGCTGCA	0.468			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		139	Substitution - Missense(138)|Unknown(1)	p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1)	haematopoietic_and_lymphoid_tissue(44)|large_intestine(26)|endometrium(20)|urinary_tract(15)|lung(15)|upper_aerodigestive_tract(8)|skin(8)|ovary(2)|biliary_tract(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1513-1515)Cgc>Ggc		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							167.0	156.0	160.0					4																	153247289		2203	4300	6503	SO:0001583	missense	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153247289G>C	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1513C>G	4.37:g.153247289G>C	ENSP00000281708:p.Arg505Gly					FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G	p.R505G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			10	2742	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	505		R -> L (in an ovarian cancer cell line).			B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1513C>G	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513685	0.64522	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.62105	0.05;0.05;0.05;0.05	5.72	4.88	0.63580	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.101576	0.64402	D	0.000001	T	0.78679	0.4321	M	0.75085	2.285	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.81858	-0.0739	10	0.87932	D	0	-12.0024	15.0746	0.72066	0.0681:0.0:0.9319:0.0	.	329;505;387;425	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	G	505;387;425;329	ENSP00000281708:R505G;ENSP00000296555:R387G;ENSP00000263981:R425G;ENSP00000377528:R329G	ENSP00000263981:R425G	R	-	1	0	FBXW7	153466739	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	9.772000	0.98984	1.559000	0.49555	-0.145000	0.13849	CGC		0.468	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			100	120	0	0	0	0.870114	0	100	120				
RASGRP3	25780	broad.mit.edu	37	2	33745738	33745738	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr2:33745738G>A	ENST00000403687.3	+	6	1095	c.355G>A	c.(355-357)Gac>Aac	p.D119N	RASGRP3_ENST00000407811.1_Missense_Mutation_p.D119N|RASGRP3_ENST00000402538.3_Missense_Mutation_p.D119N	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	119	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					CAGCCTCATCGACATATCCAG	0.453																																						ENST00000403687.3																			0				large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11						c.(355-357)Gac>Aac		RAS guanyl releasing protein 3 (calcium and DAG-regulated)							184.0	178.0	180.0					2																	33745738		2013	4169	6182	SO:0001583	missense	25780				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity	g.chr2:33745738G>A	AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"""EF-hand domain containing"""	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.355G>A	2.37:g.33745738G>A	ENSP00000384192:p.Asp119Asn					RASGRP3_ENST00000402538.3_Missense_Mutation_p.D119N|RASGRP3_ENST00000407811.1_Missense_Mutation_p.D119N	p.D119N	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN			6	1095	+	all_hematologic(175;0.115)		119			N-terminal Ras-GEF.		D6W583|O94931|Q53SD7	Missense_Mutation	SNP	ENST00000403687.3	37	c.355G>A	CCDS46256.1	.	.	.	.	.	.	.	.	.	.	G	35	5.433895	0.96150	.	.	ENSG00000152689	ENST00000402538;ENST00000437184;ENST00000403687;ENST00000407811	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	5.58	5.58	0.84498	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.44180	0.1281	L	0.60067	1.865	0.58432	D	0.999999	D;D	0.57571	0.98;0.98	P;P	0.50860	0.652;0.652	T	0.23619	-1.0183	10	0.44086	T	0.13	-20.086	19.5825	0.95473	0.0:0.0:1.0:0.0	.	119;119	D6W583;Q8IV61	.;GRP3_HUMAN	N	119	ENSP00000385886:D119N;ENSP00000393866:D119N;ENSP00000384192:D119N;ENSP00000383917:D119N	ENSP00000385886:D119N	D	+	1	0	RASGRP3	33599242	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.434000	0.97515	2.624000	0.88883	0.655000	0.94253	GAC		0.453	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	NM_015376		4	216	0	0	0	0.150653	0	4	216				
CFHR3	10878	broad.mit.edu	37	1	196757510	196757510	+	Missense_Mutation	SNP	G	G	A	rs5002712	byFrequency	TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr1:196757510G>A	ENST00000367425.4	+	4	687	c.595G>A	c.(595-597)Gca>Aca	p.A199T	CFHR3_ENST00000391985.3_Intron|CFHR3_ENST00000471440.2_Missense_Mutation_p.A199T	NM_021023.5	NP_066303.2	Q02985	FHR3_HUMAN	complement factor H-related 3	199	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						TGGATGGTCAGCACAACCAAT	0.303													-|||	3	0.000599042	0.0023	0.0	5008	,	,		11897	0.0		0.0	False		,,,				2504	0.0					ENST00000471440.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						c.(595-597)Gca>Aca		complement factor H-related 3							67.0	84.0	79.0					1																	196757510		1948	4148	6096	SO:0001583	missense	10878							g.chr1:196757510G>A	X68679	CCDS30958.1, CCDS53453.1	1q32	2014-09-17		2006-02-28	ENSG00000116785	ENSG00000116785		"""Complement system"""	16980	protein-coding gene	gene with protein product	"""complement factor H related 3"""	605336		CFHL3		8428964, 10380701	Standard	NM_021023		Approved	FHR-3, HLF4, FHR3, DOWN16	uc001gtl.3	Q02985	OTTHUMG00000035929	ENST00000367425.4:c.595G>A	1.37:g.196757510G>A	ENSP00000356395:p.Ala199Thr					CFHR3_ENST00000391985.3_Intron|CFHR3_ENST00000367425.4_Missense_Mutation_p.A199T	p.A199T							4	669	+								B4DPR0|Q9UJ16	Missense_Mutation	SNP	ENST00000367425.4	37	c.595G>A	CCDS30958.1	.	.	.	.	.	.	.	.	.	.	G	2.444	-0.328010	0.05314	.	.	ENSG00000116785	ENST00000367425;ENST00000471440	T;T	0.64991	-0.13;-0.13	2.94	-3.27	0.05048	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.55625	0.1932	L	0.59912	1.85	0.09310	N	1	B;B	0.28801	0.223;0.181	B;B	0.42386	0.315;0.386	T	0.53954	-0.8365	9	0.15952	T	0.53	.	2.2794	0.04111	0.1195:0.3488:0.354:0.1777	rs5002712	199;199	Q02985;Q6NSD3	FHR3_HUMAN;.	T	199	ENSP00000356395:A199T;ENSP00000436258:A199T	ENSP00000356395:A199T	A	+	1	0	CFHR3	195024133	0.000000	0.05858	0.010000	0.14722	0.023000	0.10783	-1.991000	0.01478	-1.075000	0.03129	-0.521000	0.04368	GCA		0.303	CFHR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087505.2	NM_021023		4	221	0	0	0	0.278610	0	4	221				
FAM179B	23116	broad.mit.edu	37	14	45433445	45433445	+	Silent	SNP	A	A	G			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr14:45433445A>G	ENST00000361577.3	+	1	2035	c.1821A>G	c.(1819-1821)ggA>ggG	p.G607G	KLHL28_ENST00000396128.4_5'Flank|KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000361462.2_Silent_p.G607G|FAM179B_ENST00000382233.2_Silent_p.G607G	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	607										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TGGCACATGGAGCAGATACGG	0.493																																						ENST00000361462.2																			0				endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						c.(1819-1821)ggA>ggG		family with sequence similarity 179, member B							131.0	115.0	120.0					14																	45433445		2203	4300	6503	SO:0001819	synonymous_variant	23116						binding	g.chr14:45433445A>G	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.1821A>G	14.37:g.45433445A>G						KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000382233.2_Silent_p.G607G|FAM179B_ENST00000361577.3_Silent_p.G607G	p.G607G			Q9Y4F4	F179B_HUMAN			1	2004	+			607					Q68D66|Q6PG27	Silent	SNP	ENST00000361577.3	37	c.1821A>G	CCDS9681.1																																																																																				0.493	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		4	212	0	0	0	0.150653	0	4	212				
PEX2	5828	broad.mit.edu	37	8	77896111	77896111	+	Missense_Mutation	SNP	G	G	T	rs200065382		TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr8:77896111G>T	ENST00000419564.2	-	4	768	c.304C>A	c.(304-306)Caa>Aaa	p.Q102K	PEX2_ENST00000522527.1_Missense_Mutation_p.Q102K|PEX2_ENST00000357039.4_Missense_Mutation_p.Q102K|PEX2_ENST00000520103.1_Missense_Mutation_p.Q102K	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN	peroxisomal biogenesis factor 2	102					bile acid biosynthetic process (GO:0006699)|cholesterol homeostasis (GO:0042632)|fatty acid beta-oxidation (GO:0006635)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|peroxisome organization (GO:0007031)|protein destabilization (GO:0031648)|protein import into peroxisome matrix (GO:0016558)|regulation of cholesterol biosynthetic process (GO:0045540)|very long-chain fatty acid metabolic process (GO:0000038)	Cdc73/Paf1 complex (GO:0016593)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						CAGATTTTTTGATTTTTACTG	0.373																																						ENST00000419564.2																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						c.(304-306)Caa>Aaa		peroxisomal biogenesis factor 2		G	LYS/GLN,LYS/GLN,LYS/GLN,LYS/GLN	0,4406		0,0,2203	51.0	49.0	49.0		304,304,304,304	5.0	0.9	8		49	1,8599		0,1,4299	yes	missense,missense,missense,missense	PEX2	NM_000318.2,NM_001079867.1,NM_001172086.1,NM_001172087.1	53,53,53,53	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	102/306,102/306,102/306,102/306	77896111	1,13005	2203	4300	6503	SO:0001583	missense	5828				peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding	g.chr8:77896111G>T	M86852	CCDS6221.1	8q21.11	2010-02-09	2010-01-25	2010-01-25		ENSG00000164751		"""RING-type (C3HC4) zinc fingers"""	9717	protein-coding gene	gene with protein product	"""Zellweger syndrome"", ""peroxin 2"""	170993	"""peroxisomal membrane protein 3 (35kD, Zellweger syndrome)"", ""peroxisomal membrane protein 3, 35kDa"""	PXMP3		1546315, 8858157	Standard	NM_000318		Approved	PMP35, PAF-1, RNF72, ZWS3	uc022awf.1	P28328		ENST00000419564.2:c.304C>A	8.37:g.77896111G>T	ENSP00000400984:p.Gln102Lys					PEX2_ENST00000357039.4_Missense_Mutation_p.Q102K|PEX2_ENST00000522527.1_Missense_Mutation_p.Q102K|PEX2_ENST00000520103.1_Missense_Mutation_p.Q102K	p.Q102K	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN			4	768	-			102					Q567S6|Q9BW41	Missense_Mutation	SNP	ENST00000419564.2	37	c.304C>A	CCDS6221.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489642	0.84962	0.0	1.16E-4	ENSG00000164751	ENST00000357039;ENST00000419564;ENST00000520103;ENST00000522527;ENST00000518986	D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83	5.04	5.04	0.67666	Pex, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92935	0.7752	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.91319	0.5080	10	0.25751	T	0.34	-13.8788	18.6359	0.91378	0.0:0.0:1.0:0.0	.	102	P28328	PEX2_HUMAN	K	102	ENSP00000349543:Q102K;ENSP00000400984:Q102K;ENSP00000428590:Q102K;ENSP00000428638:Q102K;ENSP00000429304:Q102K	ENSP00000349543:Q102K	Q	-	1	0	PEX2	78058666	1.000000	0.71417	0.850000	0.33497	0.935000	0.57460	9.017000	0.93651	2.625000	0.88918	0.558000	0.71614	CAA		0.373	PEX2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379122.1	NM_000318		115	57	1	0	4.35912e-55	0.870114	5.28544e-55	115	57				
ITGAL	3683	broad.mit.edu	37	16	30525152	30525152	+	Silent	SNP	C	C	T			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr16:30525152C>T	ENST00000356798.6	+	25	3027	c.2847C>T	c.(2845-2847)gtC>gtT	p.V949V	ITGAL_ENST00000433423.2_Silent_p.V183V|ITGAL_ENST00000358164.5_Silent_p.V865V	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	949					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	TCCACCAAGTCAAGCACATGT	0.507																																					NSCLC(110;1462 1641 3311 33990 49495)	ENST00000356798.6																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(2845-2847)gtC>gtT		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)						181.0	144.0	157.0					16																	30525152		2197	4300	6497	SO:0001819	synonymous_variant	3683				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30525152C>T		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.2847C>T	16.37:g.30525152C>T						ITGAL_ENST00000358164.5_Silent_p.V865V|ITGAL_ENST00000433423.2_Silent_p.V183V	p.V949V	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN			25	3027	+			949					O43746|Q45H73|Q96HB1|Q9UBC8	Silent	SNP	ENST00000356798.6	37	c.2847C>T	CCDS32433.1																																																																																				0.507	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			57	74	0	0	0	0.870114	0	57	74				
RAB2A	5862	broad.mit.edu	37	8	61496839	61496839	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr8:61496839G>A	ENST00000262646.7	+	4	610	c.259G>A	c.(259-261)Gat>Aat	p.D87N	RAB2A_ENST00000531289.1_Missense_Mutation_p.D63N|RAB2A_ENST00000530071.1_3'UTR|RAB2A_ENST00000529579.1_Missense_Mutation_p.D87N	NM_002865.2	NP_002856.1	P61019	RAB2A_HUMAN	RAB2A, member RAS oncogene family	87					ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.D87Y(1)		endometrium(1)|large_intestine(1)|lung(4)	6			BRCA - Breast invasive adenocarcinoma(89;0.0805)			ACTAGTTTACGATATTACACG	0.378																																						ENST00000262646.7																			1	Substitution - Missense(1)	p.D87Y(1)	lung(1)	endometrium(1)|large_intestine(1)|lung(4)	6						c.(259-261)Gat>Aat		RAB2A, member RAS oncogene family							135.0	131.0	132.0					8																	61496839		2203	4300	6503	SO:0001583	missense	5862				ER to Golgi vesicle-mediated transport|protein transport|small GTPase mediated signal transduction	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|melanosome	GDP binding|GTP binding|GTPase activity	g.chr8:61496839G>A		CCDS6175.1, CCDS56537.1	8q12.1	2007-01-15	2007-01-15	2007-01-15	ENSG00000104388	ENSG00000104388		"""RAB, member RAS oncogene"""	9763	protein-coding gene	gene with protein product		179509	"""RAB2, member RAS oncogene family"""	RAB2			Standard	NM_002865		Approved		uc003xud.2	P61019	OTTHUMG00000134298	ENST00000262646.7:c.259G>A	8.37:g.61496839G>A	ENSP00000262646:p.Asp87Asn					RAB2A_ENST00000530071.1_3'UTR|RAB2A_ENST00000529579.1_Missense_Mutation_p.D87N|RAB2A_ENST00000531289.1_Missense_Mutation_p.D63N	p.D87N	NM_002865.2	NP_002856.1	P61019	RAB2A_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0805)		4	610	+			87					B2R5W8|B4DMQ5|P08886	Missense_Mutation	SNP	ENST00000262646.7	37	c.259G>A	CCDS6175.1	.	.	.	.	.	.	.	.	.	.	G	36	5.623799	0.96660	.	.	ENSG00000104388	ENST00000262646;ENST00000531289;ENST00000529579;ENST00000543829	D;D;D	0.86769	-2.17;-2.17;-2.17	5.84	5.84	0.93424	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.95743	0.8615	H	0.94264	3.515	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	D	0.96232	0.9169	10	0.87932	D	0	.	20.1322	0.98003	0.0:0.0:1.0:0.0	.	63;87	B4DMQ5;P61019	.;RAB2A_HUMAN	N	87;63;87;41	ENSP00000262646:D87N;ENSP00000431846:D63N;ENSP00000431589:D87N	ENSP00000262646:D87N	D	+	1	0	RAB2A	61659393	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	9.869000	0.99810	2.765000	0.95021	0.484000	0.47621	GAT		0.378	RAB2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259145.2			6	375	0	0	0	0.217242	0	6	375				
MUC5B	727897	broad.mit.edu	37	11	1263410	1263410	+	Missense_Mutation	SNP	C	C	T	rs377489931	byFrequency	TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr11:1263410C>T	ENST00000529681.1	+	31	5358	c.5300C>T	c.(5299-5301)aCg>aTg	p.T1767M	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.T1770M	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1767	7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGGACAGAGACGACAATGAGC	0.617													c|||	5	0.000998403	0.0	0.0	5008	,	,		17427	0.0		0.0	False		,,,				2504	0.0051					ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(5308-5310)aCg>aTg		mucin 5B, oligomeric mucus/gel-forming			MET/THR	1,4369		0,1,2184	43.0	51.0	48.0		5300	2.2	0.0	11		48	0,8522		0,0,4261	no	missense	MUC5B	NM_002458.2	81	0,1,6445	TT,TC,CC		0.0,0.0229,0.0078	probably-damaging	1767/5763	1263410	1,12891	2185	4261	6446	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1263410C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.5300C>T	11.37:g.1263410C>T	ENSP00000436812:p.Thr1767Met					MUC5B_ENST00000529681.1_Missense_Mutation_p.T1767M	p.T1770M			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	5367	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1767			7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.5309C>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	c	9.775	1.173833	0.21704	2.29E-4	0.0	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.25579	1.79;1.96	3.11	2.15	0.27550	.	.	.	.	.	T	0.27313	0.0670	N	0.14661	0.345	0.09310	N	1	D;D	0.89917	1.0;1.0	P;P	0.60415	0.874;0.848	T	0.13575	-1.0504	9	0.87932	D	0	.	9.1564	0.36996	0.0:0.7749:0.225:0.0	.	2460;1770	A7Y9J9;E9PBJ0	.;.	M	1767;1770;1768;1837	ENSP00000436812:T1767M;ENSP00000415793:T1770M	ENSP00000343037:T1768M	T	+	2	0	MUC5B	1219986	0.000000	0.05858	0.001000	0.08648	0.022000	0.10575	-0.559000	0.05971	0.384000	0.24942	0.306000	0.20318	ACG		0.617	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		31	41	0	0	0	0.750413	0	31	41				
PRDM9	56979	broad.mit.edu	37	5	23527575	23527575	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr5:23527575G>C	ENST00000296682.3	+	11	2560	c.2378G>C	c.(2377-2379)aGt>aCt	p.S793T		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	793					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AACCTCCTCAGTCACCAGAGG	0.562										HNSCC(3;0.000094)																												ENST00000296682.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(2377-2379)aGt>aCt		PR domain containing 9							97.0	93.0	94.0					5																	23527575		2196	4297	6493	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23527575G>C	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2378G>C	5.37:g.23527575G>C	ENSP00000296682:p.Ser793Thr	HNSCC(3;0.000094)					p.S793T	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			11	2560	+			793					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.2378G>C	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.111498	0.00032	.	.	ENSG00000164256	ENST00000296682	T	0.18016	2.24	3.09	-6.17	0.02091	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05410	0.0143	N	0.11724	0.165	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.33904	-0.9850	9	0.09084	T	0.74	.	1.0668	0.01612	0.2861:0.2282:0.3086:0.1772	.	793	Q9NQV7	PRDM9_HUMAN	T	793	ENSP00000296682:S793T	ENSP00000296682:S793T	S	+	2	0	PRDM9	23563332	0.000000	0.05858	0.000000	0.03702	0.212000	0.24457	-13.902000	0.00000	-3.012000	0.00272	-0.510000	0.04470	AGT		0.562	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		5	581	0	0	0	0.184627	0	5	581				
TBC1D14	57533	broad.mit.edu	37	4	7016236	7016236	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr4:7016236C>T	ENST00000409757.4	+	12	1833	c.1709C>T	c.(1708-1710)gCg>gTg	p.A570V	TBC1D14_ENST00000448507.1_Missense_Mutation_p.A570V|TBC1D14_ENST00000446947.2_Missense_Mutation_p.A217V|TBC1D14_ENST00000410031.1_Missense_Mutation_p.A342V|TBC1D14_ENST00000451522.2_Missense_Mutation_p.A290V	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	570	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				negative regulation of autophagy (GO:0010507)|recycling endosome to Golgi transport (GO:0071955)|regulation of autophagic vacuole assembly (GO:2000785)	autophagic vacuole (GO:0005776)|Golgi apparatus (GO:0005794)|recycling endosome (GO:0055037)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						AAATTATTTGCGCATTTCAAG	0.358																																						ENST00000409757.4																			0				breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						c.(1708-1710)gCg>gTg		TBC1 domain family, member 14							99.0	96.0	97.0					4																	7016236		2203	4299	6502	SO:0001583	missense	57533					intracellular	Rab GTPase activator activity	g.chr4:7016236C>T	AL833868	CCDS3394.2, CCDS47006.1, CCDS75104.1	4p16.1	2008-01-22			ENSG00000132405	ENSG00000132405			29246	protein-coding gene	gene with protein product		614855				10718198	Standard	NM_020773		Approved	KIAA1322	uc003gjs.4	Q9P2M4	OTTHUMG00000090493	ENST00000409757.4:c.1709C>T	4.37:g.7016236C>T	ENSP00000386921:p.Ala570Val					TBC1D14_ENST00000448507.1_Missense_Mutation_p.A570V|TBC1D14_ENST00000446947.2_Missense_Mutation_p.A217V|TBC1D14_ENST00000451522.2_Missense_Mutation_p.A290V|TBC1D14_ENST00000410031.1_Missense_Mutation_p.A342V	p.A570V	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN			12	1833	+			570			Rab-GAP TBC.		B9A6L5|D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	Missense_Mutation	SNP	ENST00000409757.4	37	c.1709C>T	CCDS3394.2	.	.	.	.	.	.	.	.	.	.	C	15.57	2.871674	0.51695	.	.	ENSG00000132405	ENST00000448507;ENST00000409757;ENST00000410031;ENST00000451522;ENST00000446947	T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76	5.69	5.69	0.88448	Rab-GAP/TBC domain (5);	0.050890	0.85682	D	0.000000	T	0.11965	0.0291	L	0.48362	1.52	0.80722	D	1	B;B;B	0.29886	0.26;0.144;0.046	B;B;B	0.26416	0.063;0.025;0.069	T	0.13629	-1.0502	10	0.13853	T	0.58	-9.8499	18.8151	0.92073	0.0:1.0:0.0:0.0	.	217;290;570	F5GXK4;Q9P2M4-2;Q9P2M4	.;.;TBC14_HUMAN	V	570;570;342;290;217	ENSP00000404041:A570V;ENSP00000386921:A570V;ENSP00000386343:A342V;ENSP00000388886:A290V;ENSP00000405875:A217V	ENSP00000386921:A570V	A	+	2	0	TBC1D14	7067137	0.855000	0.29742	1.000000	0.80357	0.874000	0.50279	1.289000	0.33307	2.700000	0.92200	0.643000	0.83706	GCG		0.358	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206981.3	NM_020773		3	66	0	0	0	0.184627	0	3	66				
CRCT1	54544	broad.mit.edu	37	1	152487926	152487926	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr1:152487926C>T	ENST00000368790.3	+	2	140	c.67C>T	c.(67-69)Ccg>Tcg	p.P23S		NM_019060.2	NP_061933.1	Q9UGL9	CRCT1_HUMAN	cysteine-rich C-terminal 1	23										lung(1)|ovary(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGGccccgctccgtgtcccgc	0.706																																						ENST00000368790.3																			0				lung(1)|ovary(1)	2						c.(67-69)Ccg>Tcg		cysteine-rich C-terminal 1							10.0	12.0	11.0					1																	152487926		2195	4278	6473	SO:0001583	missense	54544							g.chr1:152487926C>T	AJ243662	CCDS1012.1	1q21	2008-02-05	2006-12-18	2006-12-18	ENSG00000169509	ENSG00000169509			29875	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 42"""	C1orf42		11230159	Standard	NM_019060		Approved	NICE-1	uc001ezz.3	Q9UGL9	OTTHUMG00000012391	ENST00000368790.3:c.67C>T	1.37:g.152487926C>T	ENSP00000357779:p.Pro23Ser						p.P23S	NM_019060.2	NP_061933.1	Q9UGL9	CRCT1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	140	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		23					A4QN00|Q6IAD7	Missense_Mutation	SNP	ENST00000368790.3	37	c.67C>T	CCDS1012.1	.	.	.	.	.	.	.	.	.	.	C	7.659	0.684580	0.14973	.	.	ENSG00000169509	ENST00000368790	T	0.78924	-1.22	4.15	2.06	0.26882	.	0.180281	0.27327	N	0.019869	T	0.51227	0.1662	.	.	.	0.09310	N	1	P	0.40180	0.705	B	0.38327	0.271	T	0.47548	-0.9109	9	0.87932	D	0	-19.3799	6.4707	0.22007	0.2101:0.5864:0.2036:0.0	.	23	Q9UGL9	CRCT1_HUMAN	S	23	ENSP00000357779:P23S	ENSP00000357779:P23S	P	+	1	0	CRCT1	150754550	0.888000	0.30383	0.039000	0.18376	0.560000	0.35617	1.830000	0.39131	1.040000	0.40099	-0.176000	0.13171	CCG		0.706	CRCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034511.1	NM_019060		19	13	0	0	0	0.557998	0	19	13				
KCNT2	343450	broad.mit.edu	37	1	196227545	196227545	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr1:196227545C>T	ENST00000294725.9	-	26	3905	c.2990G>A	c.(2989-2991)cGc>cAc	p.R997H	KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.R931H|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000609185.1_Missense_Mutation_p.R930H|KCNT2_ENST00000367433.5_Missense_Mutation_p.R973H			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	997					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TGTTGAGTTGCGGTGGTTGCT	0.483																																						ENST00000367433.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.(2917-2919)cGc>cAc		potassium channel, subfamily T, member 2							197.0	163.0	174.0					1																	196227545		2203	4300	6503	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196227545C>T	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2990G>A	1.37:g.196227545C>T	ENSP00000294725:p.Arg997His					KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.R931H|KCNT2_ENST00000294725.8_Missense_Mutation_p.R997H|KCNT2_ENST00000451324.2_3'UTR	p.R973H			Q6UVM3	KCNT2_HUMAN			25	3019	-			997					Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.2918G>A	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.652201	0.47362	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.22743	2.03;1.94;2.28	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000011	T	0.45796	0.1360	M	0.77616	2.38	0.80722	D	1	D;B;B;B	0.65815	0.995;0.023;0.021;0.007	P;B;B;B	0.56960	0.81;0.006;0.008;0.003	T	0.40646	-0.9552	10	0.59425	D	0.04	-11.3629	19.9118	0.97027	0.0:1.0:0.0:0.0	.	962;973;930;997	Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	H	973;931;997	ENSP00000356403:R973H;ENSP00000356401:R931H;ENSP00000294725:R997H	ENSP00000294725:R997H	R	-	2	0	KCNT2	194494168	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	7.140000	0.77322	2.710000	0.92621	0.643000	0.83706	CGC		0.483	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		74	100	0	0	0	0.870114	0	74	100				
TUBB8P7	197331	broad.mit.edu	37	16	90162620	90162620	+	RNA	SNP	T	T	G	rs567602838	byFrequency	TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr16:90162620T>G	ENST00000564451.1	+	0	1973				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		CTAGGTAAAGTGGGGAAGCAG	0.483													.|||	3	0.000599042	0.0015	0.0	5008	,	,		21669	0.0		0.0	False		,,,				2504	0.001					ENST00000564451.1																			0																																																			197331							g.chr16:90162620T>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162620T>G														0	1973	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.483	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		3	207	0	0	0	0.150653	0	3	207				
CATSPER1	117144	broad.mit.edu	37	11	65793355	65793355	+	Missense_Mutation	SNP	C	C	T	rs543744984		TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr11:65793355C>T	ENST00000312106.5	-	1	633	c.496G>A	c.(496-498)Gtg>Atg	p.V166M		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	166	His-rich.				calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.V166M(2)		breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						TGGTGGGGCACGCCAGAGGAA	0.582																																						ENST00000312106.5																			2	Substitution - Missense(2)	p.V166M(2)	ovary(1)|endometrium(1)	breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(496-498)Gtg>Atg		cation channel, sperm associated 1							57.0	53.0	54.0					11																	65793355		2201	4296	6497	SO:0001583	missense	117144				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	g.chr11:65793355C>T	AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"""Voltage-gated ion channels / Cation channels, sperm associated"""	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.496G>A	11.37:g.65793355C>T	ENSP00000309052:p.Val166Met						p.V166M	NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN			1	633	-			166			His-rich.		Q96P76	Missense_Mutation	SNP	ENST00000312106.5	37	c.496G>A	CCDS8127.1	.	.	.	.	.	.	.	.	.	.	C	4.959	0.178073	0.09443	.	.	ENSG00000175294	ENST00000312106	D	0.96940	-4.18	3.43	1.5	0.22942	.	.	.	.	.	D	0.84556	0.5498	N	0.03115	-0.41	0.09310	N	1	D	0.56287	0.975	B	0.32090	0.14	T	0.79339	-0.1844	9	0.22706	T	0.39	2.3962	8.0048	0.30319	0.0:0.7774:0.0:0.2226	.	166	Q8NEC5	CTSR1_HUMAN	M	166	ENSP00000309052:V166M	ENSP00000309052:V166M	V	-	1	0	CATSPER1	65549931	0.996000	0.38824	0.000000	0.03702	0.049000	0.14656	0.009000	0.13219	0.228000	0.21019	-0.657000	0.03884	GTG		0.582	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		71	75	0	0	0	0.870114	0	71	75				
CCDC114	93233	broad.mit.edu	37	19	48800379	48800379	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr19:48800379C>T	ENST00000315396.7	-	14	2549	c.1867G>A	c.(1867-1869)Gaa>Aaa	p.E623K		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	623	Ser-rich.				outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		TCTGTGTTTTCTCCGCCCCTG	0.667																																						ENST00000315396.7																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24						c.(1867-1869)Gaa>Aaa		coiled-coil domain containing 114							73.0	72.0	72.0					19																	48800379		2203	4300	6503	SO:0001583	missense	93233							g.chr19:48800379C>T	BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.1867G>A	19.37:g.48800379C>T	ENSP00000318429:p.Glu623Lys						p.E623K	NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)	14	2549	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)	623			Ser-rich.		Q6ZRL4|Q96M06|Q9UFG8	Missense_Mutation	SNP	ENST00000315396.7	37	c.1867G>A	CCDS12714.2	.	.	.	.	.	.	.	.	.	.	C	13.89	2.370815	0.42003	.	.	ENSG00000105479	ENST00000315396	T	0.28454	1.61	4.42	2.23	0.28157	.	.	.	.	.	T	0.22475	0.0542	L	0.32530	0.975	0.09310	N	1	P	0.42518	0.782	B	0.40375	0.327	T	0.11348	-1.0591	9	0.72032	D	0.01	-3.3012	5.8408	0.18633	0.191:0.7052:0.0:0.1038	.	623	Q96M63	CC114_HUMAN	K	623	ENSP00000318429:E623K	ENSP00000318429:E623K	E	-	1	0	CCDC114	53492191	0.007000	0.16637	0.000000	0.03702	0.001000	0.01503	1.995000	0.40767	0.549000	0.28973	0.655000	0.94253	GAA		0.667	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	NM_144577		5	234	0	0	0	0.217242	0	5	234				
ADAL	161823	broad.mit.edu	37	15	43641114	43641114	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr15:43641114C>T	ENST00000562188.1	+	8	659	c.643C>T	c.(643-645)Caa>Taa	p.Q215*	ADAL_ENST00000422466.2_Nonsense_Mutation_p.Q215*|ADAL_ENST00000428046.3_Nonsense_Mutation_p.Q188*|ADAL_ENST00000389651.4_Nonsense_Mutation_p.Q215*			Q6DHV7	ADAL_HUMAN	adenosine deaminase-like	215					adenosine catabolic process (GO:0006154)|drug metabolic process (GO:0017144)|inosine biosynthetic process (GO:0046103)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	adenosine deaminase activity (GO:0004000)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)	7		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;9.31e-07)		GATTCCAAACCAAAAAAAAGA	0.453																																						ENST00000422466.2																			0				endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)	7						c.(643-645)Caa>Taa		adenosine deaminase-like							68.0	68.0	68.0					15																	43641114		2201	4299	6500	SO:0001587	stop_gained	161823				adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process		adenosine deaminase activity|metal ion binding	g.chr15:43641114C>T		CCDS32214.1, CCDS53936.1	15q15.3	2014-08-08			ENSG00000168803	ENSG00000168803			31853	protein-coding gene	gene with protein product							Standard	NM_001012969		Approved		uc010udo.2	Q6DHV7	OTTHUMG00000176646	ENST00000562188.1:c.643C>T	15.37:g.43641114C>T	ENSP00000456242:p.Gln215*					ADAL_ENST00000562188.1_Nonsense_Mutation_p.Q215*|ADAL_ENST00000428046.3_Nonsense_Mutation_p.Q188*|ADAL_ENST00000389651.4_Nonsense_Mutation_p.Q215*	p.Q215*			Q6DHV7	ADAL_HUMAN		GBM - Glioblastoma multiforme(94;9.31e-07)	11	1217	+		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)	215					A6NHZ3|B4DQM8	Nonsense_Mutation	SNP	ENST00000562188.1	37	c.643C>T		.	.	.	.	.	.	.	.	.	.	C	38	6.992311	0.97987	.	.	ENSG00000168803	ENST00000422466;ENST00000428046;ENST00000389651	.	.	.	4.39	3.44	0.39384	.	0.231912	0.46145	D	0.000316	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-0.3083	11.245	0.48991	0.1915:0.8085:0.0:0.0	.	.	.	.	X	215;188;215	.	ENSP00000374302:Q215X	Q	+	1	0	ADAL	41428406	1.000000	0.71417	0.551000	0.28230	0.686000	0.39977	2.615000	0.46368	1.137000	0.42214	0.655000	0.94253	CAA		0.453	ADAL-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432960.1	XM_091156		36	61	0	0	0	0.827153	0	36	61				
TUBB8P7	197331	broad.mit.edu	37	16	90161902	90161902	+	RNA	SNP	A	A	G	rs6500471	byFrequency	TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr16:90161902A>G	ENST00000564451.1	+	0	1255				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.K213R(8)									ATATGTTCCAAGACCCTAAAA	0.537													.|||	3135	0.625998	0.9327	0.5014	5008	,	,		11498	0.7867		0.4702	False		,,,				2504	0.2945					ENST00000564451.1																			8	Substitution - Missense(8)	p.K213R(8)	kidney(4)|prostate(3)|urinary_tract(1)																																																197331							g.chr16:90161902A>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161902A>G						TUBB8P7_ENST00000567960.1_RNA								0	1255	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	52	0	0	0	0.184627	0	4	52				
CCDC40	55036	broad.mit.edu	37	17	78013852	78013852	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr17:78013852C>T	ENST00000397545.4	+	3	362	c.335C>T	c.(334-336)aCg>aTg	p.T112M	CCDC40_ENST00000269318.5_Missense_Mutation_p.T112M|CCDC40_ENST00000374876.4_Missense_Mutation_p.T112M|CCDC40_ENST00000374877.3_Missense_Mutation_p.T112M	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	112					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GCTGCAGATACGACTTACCCG	0.527																																						ENST00000397545.4																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38						c.(334-336)aCg>aTg		coiled-coil domain containing 40							80.0	84.0	83.0					17																	78013852		1948	4141	6089	SO:0001583	missense	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78013852C>T	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.335C>T	17.37:g.78013852C>T	ENSP00000380679:p.Thr112Met					CCDC40_ENST00000269318.5_Missense_Mutation_p.T112M|CCDC40_ENST00000374877.3_Missense_Mutation_p.T112M|CCDC40_ENST00000374876.4_Missense_Mutation_p.T112M	p.T112M	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		3	362	+	all_neural(118;0.167)		112					A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	37	c.335C>T	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	C	3.915	-0.019386	0.07634	.	.	ENSG00000141519	ENST00000374877;ENST00000269318;ENST00000374876;ENST00000397545	T;T;T;T	0.49720	0.78;0.77;0.78;0.82	2.73	-3.83	0.04269	.	.	.	.	.	T	0.23806	0.0576	N	0.14661	0.345	0.09310	N	1	B;B	0.15473	0.013;0.003	B;B	0.08055	0.003;0.0	T	0.12863	-1.0531	9	0.32370	T	0.25	0.026	5.1934	0.15223	0.0:0.4902:0.1942:0.3156	.	112;112	Q4G0X9-5;Q4G0X9	.;CCD40_HUMAN	M	112	ENSP00000364011:T112M;ENSP00000269318:T112M;ENSP00000364010:T112M;ENSP00000380679:T112M	ENSP00000269318:T112M	T	+	2	0	CCDC40	75628447	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.560000	0.05964	-1.001000	0.03434	-1.197000	0.01672	ACG		0.527	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		89	115	0	0	0	0.870114	0	89	115				
OCIAD2	132299	broad.mit.edu	37	4	48894854	48894854	+	Silent	SNP	G	G	A			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr4:48894854G>A	ENST00000508632.1	-	6	550	c.318C>T	c.(316-318)tgC>tgT	p.C106C	OCIAD2_ENST00000273860.4_Intron|OCIAD2_ENST00000508069.2_5'UTR	NM_001014446.1	NP_001014446.1	Q56VL3	OCAD2_HUMAN	OCIA domain containing 2	106	OCIA.					endosome (GO:0005768)|mitochondrial inner membrane (GO:0005743)				kidney(1)|lung(3)|skin(1)|urinary_tract(1)	6						ATTTACTCTGGCATACTCCTA	0.418																																						ENST00000508632.1																			0				kidney(1)|lung(3)|skin(1)|urinary_tract(1)	6						c.(316-318)tgC>tgT		OCIA domain containing 2							137.0	142.0	140.0					4																	48894854		2203	4300	6503	SO:0001819	synonymous_variant	132299					endosome		g.chr4:48894854G>A	BC032808	CCDS3485.1, CCDS33981.1	4p12	2013-10-11			ENSG00000145247	ENSG00000145247			28685	protein-coding gene	gene with protein product						17054434	Standard	NM_001286774		Approved	MGC45416	uc003gyt.3	Q56VL3	OTTHUMG00000128626	ENST00000508632.1:c.318C>T	4.37:g.48894854G>A						OCIAD2_ENST00000508069.2_5'UTR|OCIAD2_ENST00000273860.4_Intron	p.C106C	NM_001014446.1	NP_001014446.1	Q56VL3	OCAD2_HUMAN			6	550	-			106			OCIA.		B4DPE7|Q8N544	Silent	SNP	ENST00000508632.1	37	c.318C>T	CCDS33981.1																																																																																				0.418	OCIAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361984.5	NM_152398		5	324	0	0	0	0.184627	0	5	324				
AP2A2	161	broad.mit.edu	37	11	994108	994108	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr11:994108C>T	ENST00000448903.2	+	14	1960	c.1819C>T	c.(1819-1821)Cgg>Tgg	p.R607W	AP2A2_ENST00000534328.1_Intron|AP2A2_ENST00000332231.5_Missense_Mutation_p.R608W	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	607					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		ATTCCCGGAGCGGGAGTCCTC	0.622																																						ENST00000448903.2																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21						c.(1819-1821)Cgg>Tgg		adaptor-related protein complex 2, alpha 2 subunit							57.0	68.0	64.0					11																	994108		1961	4130	6091	SO:0001583	missense	161				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity	g.chr11:994108C>T	AB020706	CCDS44512.1, CCDS73234.1	11p15.5	2008-07-18			ENSG00000183020	ENSG00000183020			562	protein-coding gene	gene with protein product	"""alpha-adaptin C; Huntingtin interacting protein J"", ""adaptin, alpha B"", ""clathrin-associated/assembly/adaptor protein, large, alpha 2"""	607242		CLAPA2, ADTAB		9700202, 2564002	Standard	NM_012305		Approved	DKFZP564D1864, HYPJ, KIAA0899, HIP9	uc001lst.2	O94973	OTTHUMG00000165627	ENST00000448903.2:c.1819C>T	11.37:g.994108C>T	ENSP00000413234:p.Arg607Trp					AP2A2_ENST00000534328.1_Intron|AP2A2_ENST00000332231.5_Missense_Mutation_p.R608W	p.R607W	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)	14	1960	+		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	607					O75403|Q53ET1|Q96SI8	Missense_Mutation	SNP	ENST00000448903.2	37	c.1819C>T	CCDS44512.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.038776	0.35989	.	.	ENSG00000183020	ENST00000448903;ENST00000332231;ENST00000448757;ENST00000529125;ENST00000452310	T;T	0.20881	2.04;2.04	3.16	3.16	0.36331	Armadillo-like helical (1);	0.119241	0.53938	D	0.000060	T	0.21550	0.0519	M	0.74647	2.275	0.80722	D	1	B;B	0.32283	0.027;0.362	B;B	0.17979	0.002;0.02	T	0.17228	-1.0376	10	0.87932	D	0	-48.5231	10.5502	0.45083	0.2447:0.7553:0.0:0.0	.	608;607	O94973-2;O94973	.;AP2A2_HUMAN	W	607;608;608;344;347	ENSP00000413234:R607W;ENSP00000327694:R608W	ENSP00000327694:R608W	R	+	1	2	AP2A2	984108	1.000000	0.71417	0.977000	0.42913	0.936000	0.57629	1.746000	0.38288	2.080000	0.62538	0.561000	0.74099	CGG		0.622	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385431.2	NM_012305		68	111	0	0	0	0.870114	0	68	111				
AES	166	broad.mit.edu	37	19	3054133	3054133	+	Silent	SNP	C	C	T			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr19:3054133C>T	ENST00000327141.4	-	6	713	c.357G>A	c.(355-357)ctG>ctA	p.L119L	AC005944.2_ENST00000592758.1_RNA|AES_ENST00000221561.8_Silent_p.L186L|AES_ENST00000586839.1_Silent_p.L63L|AES_ENST00000592330.1_Intron	NM_001130.5|NM_198970.1	NP_001121.2|NP_945321.1	Q08117	AES_HUMAN	amino-terminal enhancer of split	119	Gln-rich (Q domain).				multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of gene expression (GO:0010629)|negative regulation of protein binding (GO:0032091)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|positive regulation of anoikis (GO:2000210)|response to interleukin-1 (GO:0070555)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			lung(8)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGATAGAGTTCAGCTCGGGAG	0.657																																					Pancreas(11;265 407 11814 26840 35326)	ENST00000221561.8																			0				lung(8)	8						c.(556-558)ctG>ctA		amino-terminal enhancer of split							29.0	27.0	28.0					19																	3054133		2199	4296	6495	SO:0001819	synonymous_variant	166				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity	g.chr19:3054133C>T	AK094591	CCDS12101.1, CCDS12102.1	19p13.3	2008-02-05							307	protein-coding gene	gene with protein product		600188				8365415	Standard	NM_001130		Approved	GRG5, TLE5	uc002lwx.1	Q08117		ENST00000327141.4:c.357G>A	19.37:g.3054133C>T						AES_ENST00000586839.1_Silent_p.L63L|AES_ENST00000327141.4_Silent_p.L119L|AES_ENST00000592330.1_Intron	p.L186L	NM_198969.1	NP_945320.1	Q08117	AES_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	737	-		Hepatocellular(1079;0.137)	119			CCN domain.		B2RBL0|Q12808|Q14CJ1|Q96TG9|Q9UDY9	Silent	SNP	ENST00000327141.4	37	c.558G>A	CCDS12102.1																																																																																				0.657	AES-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452154.1	NM_198969		14	17	0	0	0	0.479597	0	14	17				
EFCAB5	374786	broad.mit.edu	37	17	28417554	28417554	+	Missense_Mutation	SNP	G	G	A	rs562656184		TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr17:28417554G>A	ENST00000394835.3	+	20	3991	c.3799G>A	c.(3799-3801)Gat>Aat	p.D1267N	EFCAB5_ENST00000394832.2_Intron|RP11-1148O4.2_ENST00000582938.1_RNA|EFCAB5_ENST00000320856.5_Missense_Mutation_p.D1143N	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1267							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GGGAGTCCTCGATTTTAACAT	0.428													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19800	0.0		0.0	False		,,,				2504	0.0					ENST00000394835.3																			0				breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(3799-3801)Gat>Aat		EF-hand calcium binding domain 5							138.0	135.0	136.0					17																	28417554		1857	4089	5946	SO:0001583	missense	374786						calcium ion binding	g.chr17:28417554G>A	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.3799G>A	17.37:g.28417554G>A	ENSP00000378312:p.Asp1267Asn					EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Missense_Mutation_p.D1143N|RP11-1148O4.2_ENST00000582938.1_RNA	p.D1267N	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN			20	3991	+			1267					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	c.3799G>A	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	G	22.2	4.259980	0.80246	.	.	ENSG00000176927	ENST00000394835;ENST00000320856;ENST00000419434	T;T;T	0.40756	1.02;1.13;1.1	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000001	T	0.66645	0.2810	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.69978	-0.4998	10	0.87932	D	0	-16.2111	18.2723	0.90072	0.0:0.0:1.0:0.0	.	1143;1267	E7EVS9;A4FU69	.;EFCB5_HUMAN	N	1267;1143;949	ENSP00000378312:D1267N;ENSP00000322003:D1143N;ENSP00000417009:D949N	ENSP00000322003:D1143N	D	+	1	0	EFCAB5	25441680	1.000000	0.71417	0.834000	0.33040	0.569000	0.35902	7.154000	0.77437	2.535000	0.85469	0.655000	0.94253	GAT		0.428	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		90	109	0	0	0	0.870114	0	90	109				
ASPSCR1	79058	broad.mit.edu	37	17	79966949	79966949	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr17:79966949G>T	ENST00000306739.4	+	8	1067	c.970G>T	c.(970-972)Gtg>Ttg	p.V324L	ASPSCR1_ENST00000306729.7_Missense_Mutation_p.V324L|ASPSCR1_ENST00000580534.1_Missense_Mutation_p.V247L	NM_024083.3	NP_076988.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	324	Interaction with GLUT4. {ECO:0000250}.				glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|regulation of glucose import (GO:0046324)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)			ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GGAGCCGGTGGTGTGCCACCC	0.721			T	TFE3	alveolar soft part sarcoma																																	ENST00000306729.7				Dom	yes		17	17q25	79058	T	"""alveolar soft part sarcoma chromosome region, candidate 1"""			M	TFE3		alveolar soft part sarcoma	ASPSCR1/TFE3(167)	0				breast(2)|large_intestine(2)	4						c.(970-972)Gtg>Ttg		alveolar soft part sarcoma chromosome region, candidate 1							22.0	22.0	22.0					17																	79966949		2168	4281	6449	SO:0001583	missense	79058						protein binding	g.chr17:79966949G>T	AF324219	CCDS11796.1, CCDS58611.1	17q25	2011-06-28				ENSG00000169696		"""UBX domain containing"""	13825	protein-coding gene	gene with protein product	"""UBX domain protein 9"""	606236				11244503, 10506710	Standard	NM_024083		Approved	ASPS, ASPL, UBXD9, UBXN9	uc002kcy.3	Q9BZE9		ENST00000306739.4:c.970G>T	17.37:g.79966949G>T	ENSP00000302176:p.Val324Leu					ASPSCR1_ENST00000580534.1_Missense_Mutation_p.V247L|ASPSCR1_ENST00000306739.4_Missense_Mutation_p.V324L	p.V324L	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		8	1067	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		324			Interaction with GLUT4 (By similarity).		A8K3K9|Q7Z6N7|Q8WV59|Q96LS5|Q96M40	Missense_Mutation	SNP	ENST00000306739.4	37	c.970G>T	CCDS11796.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.282474	0.40394	.	.	ENSG00000169696	ENST00000306739;ENST00000306729;ENST00000344865	T;T	0.10005	2.92;2.92	5.3	4.31	0.51392	.	0.271852	0.35615	N	0.003084	T	0.09512	0.0234	L	0.37850	1.14	0.39016	D	0.959659	P;P;P;B;P	0.40619	0.724;0.487;0.487;0.355;0.724	B;B;B;B;B	0.35470	0.183;0.122;0.203;0.057;0.183	T	0.14504	-1.0470	10	0.46703	T	0.11	-24.1334	13.5103	0.61508	0.0:0.2979:0.7021:0.0	.	247;247;324;324;247	Q9BZE9-3;Q9BZE9-4;Q9BZE9-2;Q9BZE9;C9JAL9	.;.;.;ASPC1_HUMAN;.	L	324;324;247	ENSP00000302176:V324L;ENSP00000306625:V324L	ENSP00000306625:V324L	V	+	1	0	ASPSCR1	77560238	0.999000	0.42202	0.986000	0.45419	0.523000	0.34469	1.979000	0.40608	1.192000	0.43071	0.655000	0.94253	GTG		0.721	ASPSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441972.1	NM_024083		10	3	1	0	3.07112e-06	0.387290	3.50469e-06	10	3				
MACF1	23499	broad.mit.edu	37	1	39907692	39907692	+	Silent	SNP	C	C	G			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr1:39907692C>G	ENST00000372915.3	+	74	18525	c.18438C>G	c.(18436-18438)ctC>ctG	p.L6146L	MACF1_ENST00000545844.1_Silent_p.L4188L|MACF1_ENST00000539005.1_Silent_p.L4058L|MACF1_ENST00000567887.1_Silent_p.L6284L|MACF1_ENST00000317713.7_Silent_p.L4188L|MACF1_ENST00000564288.1_Silent_p.L6247L|MACF1_ENST00000361689.2_Silent_p.L4188L|MACF1_ENST00000289893.4_Silent_p.L4690L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6146					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCACTGACCTCAATACTGTTA	0.353																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(18739-18741)ctC>ctG		microtubule-actin crosslinking factor 1							120.0	112.0	115.0					1																	39907692		2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39907692C>G	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.18438C>G	1.37:g.39907692C>G						MACF1_ENST00000372915.3_Silent_p.L6146L|MACF1_ENST00000567887.1_Silent_p.L6284L|MACF1_ENST00000361689.2_Silent_p.L4188L|MACF1_ENST00000545844.1_Silent_p.L4188L|MACF1_ENST00000289893.4_Silent_p.L4690L|MACF1_ENST00000317713.7_Silent_p.L4188L|MACF1_ENST00000539005.1_Silent_p.L4058L	p.L6247L			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		75	19518	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	6256					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.18741C>G		.	.	.	.	.	.	.	.	.	.	C	6.717	0.500992	0.12822	.	.	ENSG00000127603	ENST00000372925	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	T	0.76278	0.3965	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74556	-0.3626	4	.	.	.	.	19.6758	0.95932	0.0:1.0:0.0:0.0	.	.	.	.	E	3192	.	.	Q	+	1	0	MACF1	39680279	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.001000	0.40825	2.644000	0.89710	0.561000	0.74099	CAA		0.353	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		3	145	0	0	0	0.115264	0	3	145				
DHX37	57647	broad.mit.edu	37	12	125432580	125432580	+	Intron	SNP	C	C	T			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr12:125432580C>T	ENST00000308736.2	-	26	3487				DHX37_ENST00000544745.1_Silent_p.L933L	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37								ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GCCCCTGCCTCAGTGACCCCA	0.597																																						ENST00000544745.1																			0				breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65						c.(2797-2799)ctG>ctA		DEAH (Asp-Glu-Ala-His) box polypeptide 37							56.0	51.0	53.0					12																	125432580		2203	4300	6503	SO:0001627	intron_variant	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125432580C>T	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.3388+49G>A	12.37:g.125432580C>T						DHX37_ENST00000308736.2_Intron	p.L933L			Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	23	2908	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		0					Q9BUI7|Q9P211	Silent	SNP	ENST00000308736.2	37	c.2799G>A	CCDS9261.1																																																																																				0.597	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		5	86	0	0	0	0.184627	0	5	86				
MRPL3	11222	broad.mit.edu	37	3	131190031	131190031	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr3:131190031C>A	ENST00000264995.3	-	7	869	c.722G>T	c.(721-723)gGa>gTa	p.G241V	MRPL3_ENST00000425847.2_Missense_Mutation_p.G268V	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	241					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						TGCAACAGCTCCAGGTCTCCT	0.423																																						ENST00000264995.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						c.(721-723)gGa>gTa		mitochondrial ribosomal protein L3							115.0	118.0	117.0					3																	131190031		2203	4300	6503	SO:0001583	missense	11222				translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr3:131190031C>A	X06323	CCDS3071.1	3q21-q23	2012-09-13			ENSG00000114686	ENSG00000114686		"""Mitochondrial ribosomal proteins / large subunits"""	10379	protein-coding gene	gene with protein product		607118		RPML3		2891103	Standard	NM_007208		Approved	MRL3	uc003eoh.3	P09001	OTTHUMG00000159607	ENST00000264995.3:c.722G>T	3.37:g.131190031C>A	ENSP00000264995:p.Gly241Val					MRPL3_ENST00000425847.2_Missense_Mutation_p.G268V	p.G241V	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN			7	869	-			241					Q6IBT2	Missense_Mutation	SNP	ENST00000264995.3	37	c.722G>T	CCDS3071.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.8|20.8	4.046062|4.046062	0.75846|0.75846	.|.	.|.	ENSG00000114686|ENSG00000114686	ENST00000264995;ENST00000425847;ENST00000507669|ENST00000511168	T;T;T|.	0.77750|.	-1.12;-1.12;-1.12|.	5.56|5.56	4.67|4.67	0.58626|0.58626	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.89329|0.89329	0.6684|0.6684	H|H	0.99487|0.99487	4.59|4.59	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.93048|0.93048	0.6463|0.6463	10|5	0.87932|.	D|.	0|.	-20.8817|-20.8817	13.8071|13.8071	0.63238|0.63238	0.0:0.9231:0.0:0.0769|0.0:0.9231:0.0:0.0769	.|.	268;241|.	E7ETU7;P09001|.	.;RM03_HUMAN|.	V|C	241;268;136|255	ENSP00000264995:G241V;ENSP00000398536:G268V;ENSP00000422419:G136V|.	ENSP00000264995:G241V|.	G|W	-|-	2|3	0|0	MRPL3|MRPL3	132672721|132672721	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.951000|0.951000	0.60555|0.60555	6.794000|6.794000	0.75135|0.75135	2.614000|2.614000	0.88457|0.88457	0.650000|0.650000	0.86243|0.86243	GGA|TGG		0.423	MRPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356471.3	NM_007208		8	148	1	0	0.00307968	0.278610	0.00347359	8	148				
PVRL4	81607	broad.mit.edu	37	1	161043540	161043540	+	Silent	SNP	C	C	T			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr1:161043540C>T	ENST00000368012.3	-	7	1505	c.1203G>A	c.(1201-1203)ctG>ctA	p.L401L	PVRL4_ENST00000453926.2_Silent_p.L135L|PVRL4_ENST00000486694.1_5'UTR	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	401					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GATGGGAATGCAGCCTCCGGA	0.622																																					NSCLC(76;1160 1387 14476 16172 29359)	ENST00000368012.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20						c.(1201-1203)ctG>ctA		poliovirus receptor-related 4							141.0	127.0	132.0					1																	161043540		2203	4300	6503	SO:0001819	synonymous_variant	81607				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane		g.chr1:161043540C>T	AF426163	CCDS1216.1	1q22-q23.2	2013-01-14			ENSG00000143217	ENSG00000143217		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19688	protein-coding gene	gene with protein product		609607				11544254	Standard	NM_030916		Approved	nectin-4, PRR4, LNIR	uc001fxo.2	Q96NY8	OTTHUMG00000031475	ENST00000368012.3:c.1203G>A	1.37:g.161043540C>T						PVRL4_ENST00000486694.1_5'UTR|PVRL4_ENST00000453926.2_Silent_p.L135L	p.L401L	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		7	1505	-	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		401					B4DQW3|Q96K15	Silent	SNP	ENST00000368012.3	37	c.1203G>A	CCDS1216.1																																																																																				0.622	PVRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077074.1	NM_030916		5	237	0	0	0	0.184627	0	5	237				
TNKS1BP1	85456	broad.mit.edu	37	11	57077492	57077492	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr11:57077492G>A	ENST00000532437.1	-	5	3004	c.2693C>T	c.(2692-2694)gCc>gTc	p.A898V	TNKS1BP1_ENST00000530920.1_5'UTR|TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A898V			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	898	Acidic.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)	p.A898V(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				ATCTTGGCTGGCATAAGCACC	0.532																																						ENST00000532437.1																			1	Substitution - Missense(1)	p.A898V(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2692-2694)gCc>gTc		tankyrase 1 binding protein 1, 182kDa							187.0	185.0	186.0					11																	57077492		2201	4296	6497	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57077492G>A	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.2693C>T	11.37:g.57077492G>A	ENSP00000437271:p.Ala898Val					TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A898V|TNKS1BP1_ENST00000530920.1_5'UTR	p.A898V			Q9C0C2	TB182_HUMAN			5	3004	-		all_epithelial(135;0.21)	898			Acidic.		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.2693C>T	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	G	11.57	1.678909	0.29783	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.34667	1.35;1.35	4.47	-3.24	0.05094	.	1.939410	0.03105	N	0.161631	T	0.27697	0.0681	L	0.29908	0.895	0.09310	N	0.999999	B	0.32829	0.386	B	0.28011	0.085	T	0.42241	-0.9463	10	0.59425	D	0.04	0.0096	11.9863	0.53149	0.0805:0.6124:0.3072:0.0	.	898	Q9C0C2	TB182_HUMAN	V	898	ENSP00000350990:A898V;ENSP00000437271:A898V	ENSP00000350990:A898V	A	-	2	0	TNKS1BP1	56834068	0.000000	0.05858	0.003000	0.11579	0.360000	0.29518	0.096000	0.15147	-0.334000	0.08463	0.462000	0.41574	GCC		0.532	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		5	437	0	0	0	0.217242	0	5	437				
PIM1	5292	broad.mit.edu	37	6	37140830	37140830	+	Silent	SNP	G	G	A			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr6:37140830G>A	ENST00000373509.5	+	5	1039	c.666G>A	c.(664-666)tcG>tcA	p.S222S	PIM1_ENST00000468243.1_3'UTR	NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	313	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	ATGGCAGGTCGGCGGCAGTCT	0.522			T	BCL6	NHL																																	ENST00000373509.5				Dom	yes		6	6p21.2	5292	T	pim-1 oncogene			L	BCL6		NHL		0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30						c.(664-666)tcG>tcA		pim-1 oncogene	Adenosine monophosphate(DB00131)						107.0	101.0	103.0					6																	37140830		2203	4300	6503	SO:0001819	synonymous_variant	5292				cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein serine/threonine kinase activity|transcription factor binding	g.chr6:37140830G>A		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"""pim-1 oncogene"""	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.666G>A	6.37:g.37140830G>A						PIM1_ENST00000468243.1_3'UTR	p.S222S	NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(102;0.241)		5	1039	+			313			Protein kinase.		Q38RT9|Q5T7H7|Q96RG3	Silent	SNP	ENST00000373509.5	37	c.666G>A	CCDS4830.1																																																																																				0.522	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			65	97	0	0	0	0.870114	0	65	97				
DOCK5	80005	broad.mit.edu	37	8	25156591	25156591	+	Nonsense_Mutation	SNP	C	C	A	rs115024120	byFrequency	TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr8:25156591C>A	ENST00000276440.7	+	8	782	c.738C>A	c.(736-738)taC>taA	p.Y246*	DOCK5_ENST00000481100.1_Nonsense_Mutation_p.Y246*	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	246					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TGGCCCTCTACGACCCAGACC	0.522																																					Pancreas(145;34 1887 3271 10937 30165)	ENST00000276440.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(736-738)taC>taA		dedicator of cytokinesis 5							104.0	86.0	92.0					8																	25156591		2203	4300	6503	SO:0001587	stop_gained	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25156591C>A		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.738C>A	8.37:g.25156591C>A	ENSP00000276440:p.Tyr246*					DOCK5_ENST00000481100.1_Nonsense_Mutation_p.Y246*	p.Y246*	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	8	782	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	246					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Nonsense_Mutation	SNP	ENST00000276440.7	37	c.738C>A	CCDS6047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	31|31	5.063932|5.063932	0.93898|0.93898	.|.	.|.	ENSG00000147459|ENSG00000147459	ENST00000444569|ENST00000481100;ENST00000276440	.|.	.|.	.|.	5.09|5.09	-4.54|-4.54	0.03452|0.03452	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|.	0.29491|.	0.0735|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.39143|.	-0.9628|.	3|.	.|0.02654	.|T	.|1	.|.	15.8326|15.8326	0.78769|0.78769	0.0:0.569:0.0:0.431|0.0:0.569:0.0:0.431	.|.	.|.	.|.	.|.	K|X	45|246	.|.	.|ENSP00000276440:Y246X	T|Y	+|+	2|3	0|2	DOCK5|DOCK5	25212508|25212508	0.242000|0.242000	0.23868|0.23868	0.907000|0.907000	0.35723|0.35723	0.932000|0.932000	0.56968|0.56968	-0.398000|-0.398000	0.07259|0.07259	-1.150000|-1.150000	0.02840|0.02840	-1.377000|-1.377000	0.01181|0.01181	ACG|TAC		0.522	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		3	137	1	0	0.014758	0.184627	0.0160846	3	137				
ZNRF3	84133	broad.mit.edu	37	22	29446410	29446410	+	Silent	SNP	T	T	G			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr22:29446410T>G	ENST00000544604.2	+	8	2416	c.2241T>G	c.(2239-2241)ggT>ggG	p.G747G	ZNRF3_ENST00000406323.3_Silent_p.G647G|ZNRF3_ENST00000402174.1_Silent_p.G647G|ZNRF3_ENST00000332811.4_Silent_p.G647G	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	747					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GCCCGGCGGGTGGGGAGCCCC	0.692																																						ENST00000544604.2																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						c.(2239-2241)ggT>ggG		zinc and ring finger 3							12.0	14.0	13.0					22																	29446410		1822	3920	5742	SO:0001819	synonymous_variant	84133					integral to membrane	zinc ion binding	g.chr22:29446410T>G	AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"""RING-type (C3HC4) zinc fingers"""	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.2241T>G	22.37:g.29446410T>G						ZNRF3_ENST00000402174.1_Silent_p.G647G|ZNRF3_ENST00000406323.3_Silent_p.G647G|ZNRF3_ENST00000332811.4_Silent_p.G647G	p.G747G	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN			8	2416	+			747					B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Silent	SNP	ENST00000544604.2	37	c.2241T>G	CCDS56225.1																																																																																				0.692	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	XM_290972		9	43	0	0	0	0.834066	0	9	43				
ADAM2	2515	broad.mit.edu	37	8	39624556	39624556	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr8:39624556A>T	ENST00000265708.4	-	14	1421	c.1318T>A	c.(1318-1320)Tca>Aca	p.S440T	ADAM2_ENST00000379853.2_Missense_Mutation_p.S314T|ADAM2_ENST00000521880.1_Missense_Mutation_p.S440T|ADAM2_ENST00000347580.4_Missense_Mutation_p.S421T	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	440	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CTTTCTTTTGACATAAACTGA	0.343																																						ENST00000265708.4																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53						c.(1318-1320)Tca>Aca		ADAM metallopeptidase domain 2							120.0	110.0	114.0					8																	39624556		2203	4300	6503	SO:0001583	missense	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39624556A>T	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1318T>A	8.37:g.39624556A>T	ENSP00000265708:p.Ser440Thr					ADAM2_ENST00000379853.2_Missense_Mutation_p.S314T|ADAM2_ENST00000347580.4_Missense_Mutation_p.S421T|ADAM2_ENST00000521880.1_Missense_Mutation_p.S440T	p.S440T	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	14	1421	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	440			Disintegrin.		P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	c.1318T>A	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	A	4.371	0.068359	0.08436	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	T;T;T;T	0.11604	2.76;2.76;2.76;2.76	4.56	-5.32	0.02722	Disintegrin, conserved site (1);Blood coagulation inhibitor, Disintegrin (6);	.	.	.	.	T	0.04770	0.0129	N	0.20530	0.585	0.09310	N	1	B;B;B;B	0.13145	0.006;0.007;0.005;0.006	B;B;B;B	0.22152	0.038;0.009;0.022;0.038	T	0.43343	-0.9397	8	.	.	.	.	1.282	0.02043	0.1462:0.2037:0.3415:0.3087	.	440;314;421;440	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	T	421;314;440;440	ENSP00000343854:S421T;ENSP00000369182:S314T;ENSP00000265708:S440T;ENSP00000429352:S440T	.	S	-	1	0	ADAM2	39743713	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.908000	0.04063	-1.210000	0.02627	-0.331000	0.08364	TCA		0.343	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		331	117	0	0	0	0.870114	0	331	117				
FNDC1	84624	broad.mit.edu	37	6	159653589	159653589	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr6:159653589G>A	ENST00000297267.9	+	11	2245	c.2045G>A	c.(2044-2046)cGc>cAc	p.R682H	FNDC1_ENST00000340366.6_Missense_Mutation_p.R619H	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	682	Ser-rich.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R682H(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AGCGTTCTCCGCGACAGAAGC	0.716																																						ENST00000297267.9																			1	Substitution - Missense(1)	p.R682H(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(2044-2046)cGc>cAc		fibronectin type III domain containing 1							15.0	18.0	17.0					6																	159653589		1954	4109	6063	SO:0001583	missense	84624					extracellular region		g.chr6:159653589G>A	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.2045G>A	6.37:g.159653589G>A	ENSP00000297267:p.Arg682His					FNDC1_ENST00000340366.6_Missense_Mutation_p.R619H	p.R682H	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	2245	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	682			Ser-rich.		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.2045G>A	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.251546	0.39797	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.09445	2.98;3.86	4.87	0.863	0.19062	.	0.929336	0.09006	N	0.862294	T	0.02455	0.0075	L	0.34521	1.04	0.09310	N	1	B;B	0.13594	0.008;0.004	B;B	0.13407	0.009;0.002	T	0.45308	-0.9270	10	0.46703	T	0.11	-2.4532	4.2237	0.10570	0.2908:0.1701:0.5391:0.0	.	619;682	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	H	682;619	ENSP00000297267:R682H;ENSP00000342460:R619H	ENSP00000297267:R682H	R	+	2	0	FNDC1	159573579	0.029000	0.19370	0.000000	0.03702	0.070000	0.16714	2.496000	0.45346	0.488000	0.27723	-0.122000	0.15005	CGC		0.716	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		19	21	0	0	0	0.706142	0	19	21				
TRAF3	7187	broad.mit.edu	37	14	103363706	103363706	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr14:103363706C>T	ENST00000560371.1	+	9	1145	c.928C>T	c.(928-930)Cga>Tga	p.R310*	TRAF3_ENST00000392745.2_Nonsense_Mutation_p.R310*|TRAF3_ENST00000539721.1_Nonsense_Mutation_p.R227*|TRAF3_ENST00000347662.4_Nonsense_Mutation_p.R285*|TRAF3_ENST00000351691.5_Nonsense_Mutation_p.R285*	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	310					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|regulation of apoptotic process (GO:0042981)|regulation of cytokine production (GO:0001817)|regulation of defense response to virus (GO:0050688)|regulation of interferon-beta production (GO:0032648)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R310*(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		GGAAATGCTTCGAAATAATGA	0.378																																						ENST00000560371.1																			1	Substitution - Nonsense(1)	p.R310*(1)	haematopoietic_and_lymphoid_tissue(1)	breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30						c.(928-930)Cga>Tga		TNF receptor-associated factor 3							60.0	56.0	57.0					14																	103363706		2203	4300	6503	SO:0001587	stop_gained	7187				apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:103363706C>T	U21092	CCDS9975.1, CCDS9976.1, CCDS55946.1	14q32.32	2014-09-17				ENSG00000131323			12033	protein-coding gene	gene with protein product		601896				7530216, 7859281	Standard	NM_145725		Approved	CAP-1, CD40bp, CRAF1, LAP1	uc001ymd.2	Q13114		ENST00000560371.1:c.928C>T	14.37:g.103363706C>T	ENSP00000454207:p.Arg310*					TRAF3_ENST00000539721.1_Nonsense_Mutation_p.R227*|TRAF3_ENST00000392745.2_Nonsense_Mutation_p.R310*|TRAF3_ENST00000347662.4_Nonsense_Mutation_p.R285*|TRAF3_ENST00000351691.5_Nonsense_Mutation_p.R285*	p.R310*	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)	9	1145	+		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)	310					B7Z8C4|Q12990|Q13076|Q13947|Q6AZX1|Q9UNL1	Nonsense_Mutation	SNP	ENST00000560371.1	37	c.928C>T	CCDS9975.1	.	.	.	.	.	.	.	.	.	.	C	38	6.716640	0.97784	.	.	ENSG00000131323	ENST00000392745;ENST00000347662;ENST00000351691;ENST00000539721	.	.	.	5.67	5.67	0.87782	.	0.249006	0.42172	D	0.000744	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-8.9547	15.7027	0.77555	0.1374:0.8626:0.0:0.0	.	.	.	.	X	310;285;310;227	.	ENSP00000328003:R285X	R	+	1	2	TRAF3	102433459	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.594000	0.54008	2.823000	0.97156	0.591000	0.81541	CGA		0.378	TRAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415735.1	NM_145725		27	7	0	0	0	0.693898	0	27	7				
ITGAL	3683	broad.mit.edu	37	16	30522385	30522385	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr16:30522385C>G	ENST00000356798.6	+	24	2894	c.2714C>G	c.(2713-2715)tCa>tGa	p.S905*	ITGAL_ENST00000433423.2_Nonsense_Mutation_p.S139*|ITGAL_ENST00000358164.5_Nonsense_Mutation_p.S821*	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	905					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	AATGAGGACTCAGACCTCCTG	0.567																																					NSCLC(110;1462 1641 3311 33990 49495)	ENST00000356798.6																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(2713-2715)tCa>tGa		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)						190.0	165.0	173.0					16																	30522385		2197	4300	6497	SO:0001587	stop_gained	3683				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30522385C>G		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.2714C>G	16.37:g.30522385C>G	ENSP00000349252:p.Ser905*					ITGAL_ENST00000358164.5_Nonsense_Mutation_p.S821*|ITGAL_ENST00000433423.2_Nonsense_Mutation_p.S139*	p.S905*	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN			24	2894	+			905					O43746|Q45H73|Q96HB1|Q9UBC8	Nonsense_Mutation	SNP	ENST00000356798.6	37	c.2714C>G	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.642045	0.67244	.	.	ENSG00000005844	ENST00000356798;ENST00000358164;ENST00000433423	.	.	.	5.0	3.03	0.35002	.	0.803259	0.10586	N	0.657251	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	7.6691	0.28449	0.0:0.8031:0.0:0.1969	.	.	.	.	X	905;821;139	.	ENSP00000349252:S905X	S	+	2	0	ITGAL	30429886	0.001000	0.12720	0.002000	0.10522	0.799000	0.45148	0.925000	0.28791	0.524000	0.28502	0.555000	0.69702	TCA		0.567	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			53	72	0	0	0	0.870114	0	53	72				
PKNOX2	63876	broad.mit.edu	37	11	125301145	125301145	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr11:125301145G>A	ENST00000298282.9	+	13	1547	c.1276G>A	c.(1276-1278)Gat>Aat	p.D426N	PKNOX2_ENST00000542175.1_Missense_Mutation_p.D362N|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	426	Asp/Glu-rich (acidic).				regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		GGCTGCACACGATGACTCATT	0.552																																						ENST00000298282.9																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29						c.(1276-1278)Gat>Aat		PBX/knotted 1 homeobox 2							52.0	54.0	53.0					11																	125301145		2166	4271	6437	SO:0001583	missense	63876					nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:125301145G>A	AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"""Homeoboxes / TALE class"""	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.1276G>A	11.37:g.125301145G>A	ENSP00000298282:p.Asp426Asn					PKNOX2_ENST00000542175.1_Missense_Mutation_p.D362N|PKNOX2_ENST00000530517.1_3'UTR	p.D426N	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)	13	1547	+		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)	426			Asp/Glu-rich (acidic).		B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Missense_Mutation	SNP	ENST00000298282.9	37	c.1276G>A	CCDS41730.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824122	0.71143	.	.	ENSG00000165495	ENST00000530517;ENST00000531116;ENST00000298282;ENST00000542175	D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.88	4.56	4.56	0.56223	.	0.182060	0.45126	D	0.000391	T	0.74199	0.3685	N	0.22421	0.69	0.54753	D	0.999989	P;P;P	0.47106	0.89;0.836;0.825	B;B;B	0.34652	0.187;0.185;0.091	T	0.76694	-0.2865	10	0.33940	T	0.23	-8.2133	17.8767	0.88827	0.0:0.0:1.0:0.0	.	362;397;426	F5GZ15;B7Z3G7;Q96KN3	.;.;PKNX2_HUMAN	N	397;397;426;362	ENSP00000434732:D397N;ENSP00000433971:D397N;ENSP00000298282:D426N;ENSP00000441470:D362N	ENSP00000298282:D426N	D	+	1	0	PKNOX2	124806355	1.000000	0.71417	0.956000	0.39512	0.956000	0.61745	5.540000	0.67205	2.517000	0.84864	0.655000	0.94253	GAT		0.552	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3			18	29	0	0	0	0.557998	0	18	29				
RHOU	58480	broad.mit.edu	37	1	228879110	228879110	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr1:228879110T>C	ENST00000366691.3	+	3	1066	c.400T>C	c.(400-402)Tca>Cca	p.S134P		NM_021205.5	NP_067028.1			ras homolog family member U											breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				CGTGAGCCCCTCATCCTTCCA	0.527																																						ENST00000366691.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13						c.(400-402)Tca>Cca		ras homolog family member U							181.0	176.0	178.0					1																	228879110		2203	4300	6503	SO:0001583	missense	58480				regulation of small GTPase mediated signal transduction	cell projection|cytosol|focal adhesion|Golgi membrane|podosome	GTP binding|metal ion binding|protein binding	g.chr1:228879110T>C		CCDS1575.1	1q42.11-q42.3	2012-02-27	2012-02-27	2004-03-24	ENSG00000116574	ENSG00000116574			17794	protein-coding gene	gene with protein product	"""Ryu GTPase"", ""Wnt-1 responsive Cdc42 homolog"", ""2310026M05Rik"", ""GTP-binding protein like 1"", ""CDC42-like GTPase"", ""GTP-binding protein SB128"", ""ras-like gene family member U"""	606366	"""ras homolog gene family, member U"""	ARHU		11459829	Standard	NM_021205		Approved	WRCH-1, DJ646B12.2, FLJ10616, WRCH1, CDC42L1, hG28K, fJ646B12.2	uc001htf.3	Q7L0Q8	OTTHUMG00000037919	ENST00000366691.3:c.400T>C	1.37:g.228879110T>C	ENSP00000355652:p.Ser134Pro						p.S134P	NM_021205.5	NP_067028.1	Q7L0Q8	RHOU_HUMAN			3	1066	+	Breast(184;0.162)	Prostate(94;0.183)	134						Missense_Mutation	SNP	ENST00000366691.3	37	c.400T>C	CCDS1575.1	.	.	.	.	.	.	.	.	.	.	T	12.01	1.808148	0.31961	.	.	ENSG00000116574	ENST00000366691	T	0.77750	-1.12	4.73	2.33	0.28932	Small GTP-binding protein domain (1);	0.251774	0.40728	N	0.001033	T	0.64316	0.2587	L	0.51853	1.615	0.37560	D	0.919046	P	0.37276	0.589	B	0.33254	0.16	T	0.57562	-0.7790	10	0.22109	T	0.4	.	5.9055	0.18998	0.1509:0.0:0.2175:0.6316	.	134	Q7L0Q8	RHOU_HUMAN	P	134	ENSP00000355652:S134P	ENSP00000355652:S134P	S	+	1	0	RHOU	226945733	0.988000	0.35896	0.495000	0.27527	0.911000	0.54048	1.750000	0.38329	0.281000	0.22233	0.533000	0.62120	TCA		0.527	RHOU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092555.1	NM_021205		4	423	0	0	0	0.150653	0	4	423				
RIPK4	54101	broad.mit.edu	37	21	43161351	43161351	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr21:43161351A>G	ENST00000352483.2	-	9	2210	c.2146T>C	c.(2146-2148)Tca>Cca	p.S716P	RIPK4_ENST00000332512.3_Missense_Mutation_p.S668P|AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000544709.1_Missense_Mutation_p.S605P|RIPK4_ENST00000542057.1_Missense_Mutation_p.S605P			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	716					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TAGCCGTCTGAGGTCATGGCC	0.687																																						ENST00000352483.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(2146-2148)Tca>Cca		receptor-interacting serine-threonine kinase 4							49.0	52.0	51.0					21																	43161351		2203	4299	6502	SO:0001583	missense	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43161351A>G	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.2146T>C	21.37:g.43161351A>G	ENSP00000330161:p.Ser716Pro					RIPK4_ENST00000332512.3_Missense_Mutation_p.S668P|RIPK4_ENST00000542057.1_Missense_Mutation_p.S605P|RIPK4_ENST00000544709.1_Missense_Mutation_p.S605P|AP001615.9_ENST00000423276.1_RNA	p.S716P			Q96T11	Q96T11_HUMAN			9	2210	-			668					Q96KH0	Missense_Mutation	SNP	ENST00000352483.2	37	c.2146T>C		.	.	.	.	.	.	.	.	.	.	A	1.912	-0.450488	0.04572	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057	T;T;T;T	0.16073	2.37;2.37;2.37;2.37	4.52	0.0522	0.14301	.	0.632580	0.14317	N	0.327276	T	0.11024	0.0269	L	0.31664	0.95	0.09310	N	1	B	0.29766	0.256	B	0.29176	0.099	T	0.25537	-1.0129	10	0.36615	T	0.2	-12.8065	7.7888	0.29108	0.5563:0.3622:0.0:0.0815	.	668	P57078-2	.	P	668;716;605;605	ENSP00000332454:S668P;ENSP00000330161:S716P;ENSP00000441754:S605P;ENSP00000442901:S605P	ENSP00000332454:S668P	S	-	1	0	RIPK4	42034420	0.000000	0.05858	0.007000	0.13788	0.025000	0.11179	-0.071000	0.11505	-0.036000	0.13669	-0.396000	0.06452	TCA		0.687	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		82	78	0	0	0	0.870114	0	82	78				
MAP3K12	7786	broad.mit.edu	37	12	53877172	53877172	+	Missense_Mutation	SNP	T	T	C	rs140537763		TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr12:53877172T>C	ENST00000267079.2	-	11	1700	c.1475A>G	c.(1474-1476)aAg>aGg	p.K492R	MAP3K12_ENST00000547035.1_Missense_Mutation_p.K525R|MAP3K12_ENST00000547488.1_Missense_Mutation_p.K525R	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	492					histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CACATTCCTCTTCTTGATAAG	0.532																																						ENST00000267079.2																			0				NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						c.(1474-1476)aAg>aGg		mitogen-activated protein kinase kinase kinase 12		T	ARG/LYS,ARG/LYS	1,4405	2.1+/-5.4	0,1,2202	169.0	165.0	166.0		1574,1475	5.4	1.0	12	dbSNP_134	166	8,8592	6.4+/-24.3	0,8,4292	yes	missense,missense	MAP3K12	NM_001193511.1,NM_006301.3	26,26	0,9,6494	CC,CT,TT		0.093,0.0227,0.0692	benign,benign	525/893,492/860	53877172	9,12997	2203	4300	6503	SO:0001583	missense	7786				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr12:53877172T>C	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.1475A>G	12.37:g.53877172T>C	ENSP00000267079:p.Lys492Arg					MAP3K12_ENST00000547035.1_Missense_Mutation_p.K525R|MAP3K12_ENST00000547488.1_Missense_Mutation_p.K525R	p.K492R	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN			11	1700	-			492					B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	ENST00000267079.2	37	c.1475A>G	CCDS8860.1	.	.	.	.	.	.	.	.	.	.	T	14.57	2.575410	0.45902	2.27E-4	9.3E-4	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	T;T;T	0.12672	2.66;2.66;2.66	5.42	5.42	0.78866	.	0.000000	0.47852	D	0.000205	T	0.11965	0.0291	L	0.33189	0.99	0.58432	D	0.999995	B;B	0.29862	0.259;0.169	B;B	0.33568	0.166;0.08	T	0.08391	-1.0724	10	0.09084	T	0.74	.	14.7585	0.69588	0.0:0.0:0.0:1.0	.	525;492	G3V1Y2;Q12852	.;M3K12_HUMAN	R	492;525;525	ENSP00000267079:K492R;ENSP00000449038:K525R;ENSP00000448689:K525R	ENSP00000267079:K492R	K	-	2	0	MAP3K12	52163439	0.988000	0.35896	1.000000	0.80357	0.998000	0.95712	2.040000	0.41203	2.196000	0.70406	0.533000	0.62120	AAG		0.532	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		127	162	0	0	0	0.870114	0	127	162				
LOC643733	643733	broad.mit.edu	37	11	104776204	104776204	+	RNA	SNP	G	G	A			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr11:104776204G>A	ENST00000532510.1	-	0	3228																											AGGTGGCAGCGCCAGGAATAT	0.438																																						ENST00000532510.1																			0																																																			643733							g.chr11:104776204G>A																													11.37:g.104776204G>A														0	3228	-									RNA	SNP	ENST00000532510.1	37																																																																																						0.438	RP11-693N9.2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000387738.1			68	14	0	0	0	0.870114	0	68	14				
AP1B1	162	broad.mit.edu	37	22	29747175	29747175	+	Silent	SNP	G	G	A			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr22:29747175G>A	ENST00000405198.1	-	8	1171	c.1140C>T	c.(1138-1140)tgC>tgT	p.C380C	AP1B1_ENST00000432560.2_Silent_p.C380C|AP1B1_ENST00000356015.2_Silent_p.C380C|AP1B1_ENST00000317368.7_Silent_p.C380C|AP1B1_ENST00000402502.1_Silent_p.C380C|AP1B1_ENST00000357586.2_Silent_p.C380C|AP1B1_ENST00000415447.1_Silent_p.C380C			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	380					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CCTTGATGGCGCAGCGGCCAA	0.547																																						ENST00000357586.2																			0				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1138-1140)tgC>tgT		adaptor-related protein complex 1, beta 1 subunit							200.0	182.0	188.0					22																	29747175		2203	4300	6503	SO:0001819	synonymous_variant	162				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity	g.chr22:29747175G>A	L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.1140C>T	22.37:g.29747175G>A						AP1B1_ENST00000402502.1_Silent_p.C380C|AP1B1_ENST00000317368.7_Silent_p.C380C|AP1B1_ENST00000432560.2_Silent_p.C380C|AP1B1_ENST00000405198.1_Silent_p.C380C|AP1B1_ENST00000356015.2_Silent_p.C380C|AP1B1_ENST00000415447.1_Silent_p.C380C	p.C380C	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN			9	1326	-			380					C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Silent	SNP	ENST00000405198.1	37	c.1140C>T	CCDS13855.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.277688	0.23307	.	.	ENSG00000100280	ENST00000415756	.	.	.	5.86	-2.71	0.05986	.	.	.	.	.	T	0.63815	0.2543	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61242	-0.7102	4	.	.	.	-11.9966	13.8568	0.63531	0.473:0.0:0.527:0.0	.	.	.	.	C	93	.	.	R	-	1	0	AP1B1	28077175	0.010000	0.17322	0.975000	0.42487	0.982000	0.71751	-0.529000	0.06186	-0.672000	0.05266	-0.238000	0.12139	CGC		0.547	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321374.1	NM_001127		13	482	0	0	0	0.520397	0	13	482				
STK35	140901	broad.mit.edu	37	20	2097996	2097996	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr20:2097996G>A	ENST00000381482.3	+	3	1848	c.1577G>A	c.(1576-1578)aGa>aAa	p.R526K	STK35_ENST00000400064.3_Intron|STK35_ENST00000246032.3_Missense_Mutation_p.R393K			Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	526	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						CTTGAAACCAGAATGGACCAG	0.438																																						ENST00000381482.3																			0				large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						c.(1576-1578)aGa>aAa		serine/threonine kinase 35							73.0	67.0	69.0					20																	2097996		2203	4300	6503	SO:0001583	missense	140901					cytoplasm|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr20:2097996G>A	AL359916	CCDS13024.1, CCDS13024.2	20p13	2008-07-02			ENSG00000125834	ENSG00000125834			16254	protein-coding gene	gene with protein product	"""CLP-36 interacting kinase"""	609370				11973348	Standard	NM_080836		Approved	bA550O8.2, CLIK1	uc002wfw.4	Q8TDR2	OTTHUMG00000031688	ENST00000381482.3:c.1577G>A	20.37:g.2097996G>A	ENSP00000370891:p.Arg526Lys					STK35_ENST00000400064.3_Intron|STK35_ENST00000246032.3_Missense_Mutation_p.R393K	p.R526K			Q8TDR2	STK35_HUMAN			3	1848	+			526			Protein kinase.		B2RBM3|C7ENV8|Q2NKW6|Q5T3R1|Q5T3R2|Q96AB4|Q9BZ06	Missense_Mutation	SNP	ENST00000381482.3	37	c.1577G>A	CCDS13024.2	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558365	0.86231	.	.	ENSG00000125834	ENST00000381482;ENST00000246032	T;T	0.71103	-0.27;-0.54	5.5	5.5	0.81552	Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.65154	0.2664	L	0.35723	1.085	0.80722	D	1	B	0.34103	0.437	B	0.37091	0.241	T	0.63620	-0.6596	10	0.39692	T	0.17	-8.5183	16.94	0.86215	0.0:0.0:1.0:0.0	.	526	Q8TDR2	STK35_HUMAN	K	526;393	ENSP00000370891:R526K;ENSP00000246032:R393K	ENSP00000246032:R393K	R	+	2	0	STK35	2045996	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.861000	0.98227	0.655000	0.94253	AGA		0.438	STK35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077574.3	NM_080836		65	10	0	0	0	0.870114	0	65	10				
SOGA3	387104	broad.mit.edu	37	6	127796906	127796906	+	Silent	SNP	G	G	A			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr6:127796906G>A	ENST00000525778.1	-	6	3010	c.2265C>T	c.(2263-2265)agC>agT	p.S755S	SOGA3_ENST00000556132.1_Silent_p.S755S|SOGA3_ENST00000465909.2_Silent_p.S755S|SOGA3_ENST00000474293.2_5'Flank|SOGA3_ENST00000368268.2_Silent_p.S755S|SOGA3_ENST00000481848.2_Silent_p.S755S			Q5TF21	SOGA3_HUMAN	SOGA family member 3	755					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											TGCCCGCGTCGCTCTCGGCGT	0.692																																						ENST00000556132.1																			0											c.(2263-2265)agC>agT		SOGA family member 3							40.0	47.0	45.0					6																	127796906		2131	4232	6363	SO:0001819	synonymous_variant	387104					integral to membrane		g.chr6:127796906G>A	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.2265C>T	6.37:g.127796906G>A						SOGA3_ENST00000368268.2_Silent_p.S755S|SOGA3_ENST00000465909.2_Silent_p.S755S|SOGA3_ENST00000525778.1_Silent_p.S755S|SOGA3_ENST00000481848.2_Silent_p.S755S	p.S755S	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN			6	3129	-			755						Silent	SNP	ENST00000525778.1	37	c.2265C>T	CCDS43505.1																																																																																				0.692	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		94	99	0	0	0	0.870114	0	94	99				
ZIM2	23619	broad.mit.edu	37	19	57286109	57286109	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr19:57286109G>T	ENST00000391708.3	-	12	2073	c.1531C>A	c.(1531-1533)Caa>Aaa	p.Q511K	ZIM2_ENST00000599935.1_Missense_Mutation_p.Q511K|ZIM2_ENST00000221722.5_Missense_Mutation_p.Q511K|ZIM2_ENST00000593711.1_Missense_Mutation_p.Q511K|ZIM2_ENST00000601070.1_Missense_Mutation_p.Q511K|AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000594400.1_RNA	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	511					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		TGATAATGTTGAGTGAGGTAT	0.423																																						ENST00000391708.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1531-1533)Caa>Aaa		zinc finger, imprinted 2							109.0	103.0	105.0					19																	57286109		2203	4300	6503	SO:0001583	missense	23619							g.chr19:57286109G>T	AF166122	CCDS33123.1	19q13.4	2012-10-31				ENSG00000269699		"""Zinc fingers, C2H2-type"""	12875	protein-coding gene	gene with protein product							Standard	NM_015363		Approved	ZNF656		Q9NZV7		ENST00000391708.3:c.1531C>A	19.37:g.57286109G>T	ENSP00000375589:p.Gln511Lys					ZIM2_ENST00000593711.1_Missense_Mutation_p.Q511K|ZIM2_ENST00000221722.5_Missense_Mutation_p.Q511K|AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000601070.1_Missense_Mutation_p.Q511K|ZIM2_ENST00000599935.1_Missense_Mutation_p.Q511K	p.Q511K	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1				GBM - Glioblastoma multiforme(193;0.0314)	12	2073	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)						Q2M3K1	Missense_Mutation	SNP	ENST00000391708.3	37	c.1531C>A	CCDS33123.1	.	.	.	.	.	.	.	.	.	.	G	9.267	1.044781	0.19748	.	.	ENSG00000198300	ENST00000391708;ENST00000221722	T;T	0.14640	2.49;2.49	4.96	3.9	0.45041	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06142	0.0159	N	0.05414	-0.055	.	.	.	B	0.31485	0.325	B	0.25405	0.06	T	0.26224	-1.0109	8	0.15952	T	0.53	.	10.2694	0.43475	0.0:0.0:0.6406:0.3594	.	511	Q9NZV7	ZIM2_HUMAN	K	511	ENSP00000375589:Q511K;ENSP00000221722:Q511K	ENSP00000221722:Q511K	Q	-	1	0	ZIM2	61977921	0.000000	0.05858	0.259000	0.24435	0.910000	0.53928	-0.515000	0.06290	1.273000	0.44346	0.655000	0.94253	CAA		0.423	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416094.2			64	66	1	0	4.83677e-39	0.870114	5.72155e-39	64	66				
TMEM86A	144110	broad.mit.edu	37	11	18723189	18723189	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr11:18723189G>T	ENST00000280734.2	+	3	452	c.356G>T	c.(355-357)cGg>cTg	p.R119L	TMEM86A_ENST00000527002.1_3'UTR	NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A	119						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						CTGGCTCTTCGGACAGGTCTG	0.612																																						ENST00000280734.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						c.(355-357)cGg>cTg		transmembrane protein 86A							97.0	87.0	90.0					11																	18723189		2199	4293	6492	SO:0001583	missense	144110					integral to membrane		g.chr11:18723189G>T	BC035692	CCDS7844.1	11p15.1	2005-10-28				ENSG00000151117			26890	protein-coding gene	gene with protein product							Standard	NM_153347		Approved	FLJ90119	uc001moz.1	Q8N2M4		ENST00000280734.2:c.356G>T	11.37:g.18723189G>T	ENSP00000280734:p.Arg119Leu					TMEM86A_ENST00000527002.1_3'UTR	p.R119L	NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN			3	452	+			119					Q96AJ0	Missense_Mutation	SNP	ENST00000280734.2	37	c.356G>T	CCDS7844.1	.	.	.	.	.	.	.	.	.	.	G	7.449	0.642378	0.14451	.	.	ENSG00000151117	ENST00000535380;ENST00000280734	T	0.18960	2.18	5.03	5.03	0.67393	.	0.420322	0.24134	N	0.041226	T	0.14313	0.0346	L	0.35854	1.095	0.36815	D	0.886083	B	0.18013	0.025	B	0.14023	0.01	T	0.09465	-1.0673	10	0.09084	T	0.74	-18.2471	9.8566	0.41090	0.1224:0.0:0.8776:0.0	.	119	Q8N2M4	TM86A_HUMAN	L	119	ENSP00000280734:R119L	ENSP00000280734:R119L	R	+	2	0	TMEM86A	18679765	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.038000	0.49783	2.771000	0.95319	0.561000	0.74099	CGG		0.612	TMEM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387812.1	NM_153347		58	73	1	0	2.56585e-57	0.870114	3.15047e-57	58	73				
CSMD1	64478	broad.mit.edu	37	8	3245095	3245095	+	Silent	SNP	C	C	T	rs374751635		TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr8:3245095C>T	ENST00000520002.1	-	19	3261	c.2706G>A	c.(2704-2706)ccG>ccA	p.P902P	CSMD1_ENST00000539096.1_Silent_p.P901P|CSMD1_ENST00000400186.3_Silent_p.P902P|CSMD1_ENST00000602723.1_Silent_p.P902P|CSMD1_ENST00000542608.1_Silent_p.P901P|CSMD1_ENST00000602557.1_Silent_p.P902P|CSMD1_ENST00000537824.1_Silent_p.P901P			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	902	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTGTGTACCCCGGGTCACAGC	0.607																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(2704-2706)ccG>ccA		CUB and Sushi multiple domains 1		C		2,4216		0,2,2107	45.0	52.0	50.0		2703	-10.2	0.0	8		50	0,8424		0,0,4212	no	coding-synonymous	CSMD1	NM_033225.5		0,2,6319	TT,TC,CC		0.0,0.0474,0.0158		901/3565	3245095	2,12640	2109	4212	6321	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:3245095C>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.2706G>A	8.37:g.3245095C>T						CSMD1_ENST00000542608.1_Silent_p.P901P|CSMD1_ENST00000539096.1_Silent_p.P901P|CSMD1_ENST00000537824.1_Silent_p.P901P|CSMD1_ENST00000602723.1_Silent_p.P902P|CSMD1_ENST00000400186.3_Silent_p.P902P|CSMD1_ENST00000602557.1_Silent_p.P902P	p.P902P			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	19	3261	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	902			Sushi 5.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.2706G>A		.	.	.	.	.	.	.	.	.	.	C	0.072	-1.201070	0.01581	4.74E-4	0.0	ENSG00000183117	ENST00000335551	.	.	.	5.11	-10.2	0.00374	.	.	.	.	.	T	0.34395	0.0896	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56263	-0.8008	4	.	.	.	.	2.7969	0.05403	0.3001:0.2199:0.3679:0.1121	.	.	.	.	R	382	.	.	G	-	1	0	CSMD1	3232502	0.000000	0.05858	0.007000	0.13788	0.004000	0.04260	-3.486000	0.00455	-4.801000	0.00031	-2.303000	0.00259	GGG		0.607	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		14	18	0	0	0	0.435327	0	14	18				
KCNJ1	3758	broad.mit.edu	37	11	128709588	128709588	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr11:128709588C>A	ENST00000392664.2	-	2	724	c.608G>T	c.(607-609)cGg>cTg	p.R203L	KCNJ1_ENST00000392665.2_Missense_Mutation_p.R184L|KCNJ1_ENST00000440599.2_Missense_Mutation_p.R184L|KCNJ1_ENST00000392666.1_Missense_Mutation_p.R184L|KCNJ1_ENST00000324036.3_Missense_Mutation_p.R184L	NM_000220.4	NP_000211.1	P48048	KCNJ1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	203					cardiovascular system development (GO:0072358)|excretion (GO:0007588)|kidney development (GO:0001822)|post-embryonic development (GO:0009791)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of G-protein activated inward rectifier potassium channel activity (GO:1900128)|renal sodium ion absorption (GO:0070294)|synaptic transmission (GO:0007268)|tissue homeostasis (GO:0001894)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.R203Q(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Bethanidine(DB00217)|Glimepiride(DB00222)|Glyburide(DB01016)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Tolazamide(DB00839)|Tolbutamide(DB01124)|Yohimbine(DB01392)	CTTCCCTCCCCGTTTGCTGAT	0.478																																						ENST00000392665.2																			1	Substitution - Missense(1)	p.R203Q(1)	large_intestine(1)	breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23						c.(550-552)cGg>cTg		potassium inwardly-rectifying channel, subfamily J, member 1	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)						81.0	76.0	78.0					11																	128709588		2198	4289	6487	SO:0001583	missense	3758				excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity	g.chr11:128709588C>A	BC063109	CCDS8476.1, CCDS8477.1	11q24	2011-07-05			ENSG00000151704	ENSG00000151704		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6255	protein-coding gene	gene with protein product		600359				7680431, 8190102, 16382105	Standard	NM_153765		Approved	Kir1.1, ROMK1	uc001qeo.2	P48048	OTTHUMG00000048247	ENST00000392664.2:c.608G>T	11.37:g.128709588C>A	ENSP00000376432:p.Arg203Leu					KCNJ1_ENST00000392664.2_Missense_Mutation_p.R203L|KCNJ1_ENST00000392666.1_Missense_Mutation_p.R184L|KCNJ1_ENST00000324036.3_Missense_Mutation_p.R184L|KCNJ1_ENST00000440599.2_Missense_Mutation_p.R184L	p.R184L	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	2	695	-	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)	203					B2RMR4|Q6LD67	Missense_Mutation	SNP	ENST00000392664.2	37	c.551G>T	CCDS8476.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.275302	0.59649	.	.	ENSG00000151704	ENST00000392665;ENST00000392666;ENST00000440599;ENST00000324036;ENST00000392664	D;D;D;D;D	0.95377	-3.69;-3.69;-3.69;-3.69;-3.69	5.71	5.71	0.89125	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.109084	0.64402	D	0.000013	D	0.97059	0.9039	M	0.78049	2.395	0.58432	D	0.999996	D	0.57257	0.979	P	0.54590	0.756	D	0.97317	0.9941	10	0.87932	D	0	.	19.8655	0.96803	0.0:1.0:0.0:0.0	.	203	P48048	IRK1_HUMAN	L	184;184;184;184;203	ENSP00000376433:R184L;ENSP00000376434:R184L;ENSP00000406320:R184L;ENSP00000316233:R184L;ENSP00000376432:R203L	ENSP00000316233:R184L	R	-	2	0	KCNJ1	128214798	0.997000	0.39634	0.905000	0.35620	0.411000	0.31082	3.472000	0.53114	2.690000	0.91761	0.514000	0.50259	CGG		0.478	KCNJ1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386233.1	NM_000220		4	194	1	0	0.150653	0.150653	0.160587	4	194				
ARMC3	219681	broad.mit.edu	37	10	23270411	23270411	+	Missense_Mutation	SNP	C	C	G	rs146538646		TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr10:23270411C>G	ENST00000298032.5	+	9	1143	c.1059C>G	c.(1057-1059)ttC>ttG	p.F353L	ARMC3_ENST00000376528.4_Missense_Mutation_p.F90L|ARMC3_ENST00000409049.3_Missense_Mutation_p.F353L|ARMC3_ENST00000409983.3_Missense_Mutation_p.F353L	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	353						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AAGATTTTTTCAATAATCAGG	0.363																																						ENST00000298032.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1057-1059)ttC>ttG		armadillo repeat containing 3																																				SO:0001583	missense	219681						binding	g.chr10:23270411C>G	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.1059C>G	10.37:g.23270411C>G	ENSP00000298032:p.Phe353Leu					ARMC3_ENST00000409049.3_Missense_Mutation_p.F353L|ARMC3_ENST00000376528.4_Missense_Mutation_p.F90L|ARMC3_ENST00000409983.3_Missense_Mutation_p.F353L	p.F353L	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN			9	1143	+			353					A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	ENST00000298032.5	37	c.1059C>G	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.870774	0.51695	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376523;ENST00000409049;ENST00000376528	T;T;T;T	0.61742	0.08;0.08;1.49;1.01	5.05	5.05	0.67936	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.46502	0.1396	L	0.42245	1.32	0.58432	D	0.999996	B;P	0.34977	0.184;0.478	B;B	0.33254	0.16;0.129	T	0.43097	-0.9412	10	0.33940	T	0.23	-25.4605	10.1066	0.42537	0.0:0.8758:0.0:0.1242	.	353;353	Q5W041-4;Q5W041	.;ARMC3_HUMAN	L	353;353;289;353;90	ENSP00000298032:F353L;ENSP00000386943:F353L;ENSP00000387288:F353L;ENSP00000365711:F90L	ENSP00000298032:F353L	F	+	3	2	ARMC3	23310417	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	2.547000	0.45786	2.503000	0.84419	0.561000	0.74099	TTC		0.363	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081		57	62	0	0	0	0.870114	0	57	62				
OSBP	5007	broad.mit.edu	37	11	59367971	59367971	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr11:59367971G>A	ENST00000263847.1	-	7	1788	c.1309C>T	c.(1309-1311)Ccg>Tcg	p.P437S		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	437	Sterol binding. {ECO:0000250}.				lipid transport (GO:0006869)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	oxysterol binding (GO:0008142)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		AACCTTACCGGCATGGGGATC	0.488																																						ENST00000263847.1																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(1309-1311)Ccg>Tcg		oxysterol binding protein							170.0	157.0	161.0					11																	59367971		2201	4295	6496	SO:0001583	missense	5007				lipid transport	Golgi membrane	oxysterol binding	g.chr11:59367971G>A	AF185696	CCDS7974.1	11q12-q13	2013-01-10			ENSG00000110048	ENSG00000110048		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8503	protein-coding gene	gene with protein product		167040					Standard	NM_002556		Approved	OSBP1	uc001noc.1	P22059	OTTHUMG00000167422	ENST00000263847.1:c.1309C>T	11.37:g.59367971G>A	ENSP00000263847:p.Pro437Ser						p.P437S	NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	7	1788	-		all_epithelial(135;0.000236)	437			Sterol binding (By similarity).		Q6P524	Missense_Mutation	SNP	ENST00000263847.1	37	c.1309C>T	CCDS7974.1	.	.	.	.	.	.	.	.	.	.	G	34	5.329630	0.95733	.	.	ENSG00000110048	ENST00000263847	T	0.77750	-1.12	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.93012	0.7776	H	0.97983	4.12	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	D	0.95010	0.8151	10	0.72032	D	0.01	-19.7693	19.5237	0.95195	0.0:0.0:1.0:0.0	.	437	P22059	OSBP1_HUMAN	S	437	ENSP00000263847:P437S	ENSP00000263847:P437S	P	-	1	0	OSBP	59124547	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.869000	0.99810	2.721000	0.93114	0.655000	0.94253	CCG		0.488	OSBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394555.1			4	258	0	0	0	0.184627	0	4	258				
SLC16A4	9122	broad.mit.edu	37	1	110906426	110906427	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr1:110906426_110906427insA	ENST00000369779.4	-	9	1674_1675	c.1425_1426insT	c.(1423-1428)tttgtafs	p.V476fs	SLC16A4_ENST00000541986.1_Frame_Shift_Ins_p.V414fs|SLC16A4_ENST00000369781.4_Frame_Shift_Ins_p.V308fs|SLC16A4_ENST00000472422.2_Frame_Shift_Ins_p.V428fs|SLC16A4_ENST00000437429.2_Frame_Shift_Ins_p.L372fs	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	476					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)	p.F475fs*12(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	GCCAATGGTACAAAAAAAAAGG	0.391																																						ENST00000369779.4																			1	Deletion - Frameshift(1)	p.F475fs*12(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16						c.(1423-1428)tttaccfs		solute carrier family 16, member 4	Pyruvic acid(DB00119)																																			SO:0001589	frameshift_variant	9122					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr1:110906426_110906427insA	U59185	CCDS823.1, CCDS55621.1, CCDS55622.1, CCDS55623.1, CCDS55624.1	1p13.3	2013-07-18	2013-07-18		ENSG00000168679	ENSG00000168679		"""Solute carriers"""	10925	protein-coding gene	gene with protein product		603878	"""solute carrier family 16 (monocarboxylic acid transporters), member 4"", ""solute carrier family 16, member 4 (monocarboxylic acid transporter 5)"""			9425115	Standard	NM_004696		Approved	MCT4, MCT5	uc001dzo.2	O15374	OTTHUMG00000011285	ENST00000369779.4:c.1426dupT	1.37:g.110906435_110906435dupA	ENSP00000358794:p.Val476fs					SLC16A4_ENST00000541986.1_Frame_Shift_Ins_p.T414fs|SLC16A4_ENST00000437429.2_Frame_Shift_Ins_p.L372fs|SLC16A4_ENST00000472422.2_Frame_Shift_Ins_p.T428fs|SLC16A4_ENST00000369781.4_Frame_Shift_Ins_p.T308fs	p.T476fs	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	9	1674_1675	-		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)	476					A8K3V5|B2R9C9|B4DJ67|B4DPX7|E7EPY8|G3V175|Q5T612|Q8WU09	Frame_Shift_Ins	INS	ENST00000369779.4	37	c.1425_1426insT	CCDS823.1																																																																																				0.391	SLC16A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000031115.3	NM_004696		10	179						10	179	---	---	---	---
KPRP	448834	broad.mit.edu	37	1	152732518	152732520	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr1:152732518_152732520delAAC	ENST00000606109.1	+	1	482_484	c.454_456delAAC	c.(454-456)aacdel	p.N152del	KPRP_ENST00000368773.1_In_Frame_Del_p.N152del			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	152	Gln-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCAGTCCAGAACTATGTACCCT	0.507																																						ENST00000368773.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(454-456)del		keratinocyte proline-rich protein																																				SO:0001651	inframe_deletion	448834					cytoplasm		g.chr1:152732518_152732520delAAC	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.454_456delAAC	1.37:g.152732518_152732520delAAC	ENSP00000475216:p.Asn152del					KPRP_ENST00000606109.1_In_Frame_Del_p.N152del	p.N152del	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	512_514	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		152			Gln-rich.			In_Frame_Del	DEL	ENST00000606109.1	37	c.454_456delAAC	CCDS30862.1																																																																																				0.507	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		96	129						96	129	---	---	---	---
IRF2BP2	359948	broad.mit.edu	37	1	234743346	234743348	+	In_Frame_Del	DEL	TTG	TTG	-	rs371352845		TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr1:234743346_234743348delTTG	ENST00000366609.3	-	2	1329_1331	c.1299_1301delCAA	c.(1297-1302)gacaat>gat	p.N434del	RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000366610.3_In_Frame_Del_p.N418del|IRF2BP2_ENST00000491430.1_5'UTR	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	434					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			GCCCCCTGCATTGTCTGCTACTA	0.581																																						ENST00000366609.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						c.(1297-1302)gat>ga		interferon regulatory factor 2 binding protein 2																																				SO:0001651	inframe_deletion	359948				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr1:234743346_234743348delTTG	AY278023	CCDS1602.1, CCDS41475.1	1q42.3	2008-02-05			ENSG00000168264	ENSG00000168264			21729	protein-coding gene	gene with protein product		615332				12799427	Standard	NM_182972		Approved	IRF-2BP2	uc001hwg.3	Q7Z5L9	OTTHUMG00000037981	ENST00000366609.3:c.1299_1301delCAA	1.37:g.234743346_234743348delTTG	ENSP00000355568:p.Asn434del					RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000491430.1_5'UTR|IRF2BP2_ENST00000366610.3_In_Frame_Del_p.DN417del	p.DN433del	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)		2	1329_1331	-	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	433					B1AM35|B1AM36|Q6P083|Q7Z5L8|Q8N351|Q8WUH8	In_Frame_Del	DEL	ENST00000366609.3	37	c.1299_1301delCAA	CCDS1602.1																																																																																				0.581	IRF2BP2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000092705.1	NM_182972		100	182						100	182	---	---	---	---
LINC01515	101928913	broad.mit.edu	37	10	67367791	67367794	+	lincRNA	DEL	TTCT	TTCT	-	rs144987867|rs370256406		TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr10:67367791_67367794delTTCT	ENST00000433152.4	+	0	706																											tctttctttcttctttctttcttt	0.397																																						ENST00000433152.3																			0																																																			101928913							g.chr10:67367791_67367794delTTCT																													10.37:g.67367799_67367802delTTCT														0	594	+									RNA	DEL	ENST00000433152.4	37																																																																																						0.397	RP11-222A11.1-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000048275.4			3	5						3	5	---	---	---	---
KRTAP5-5	439915	broad.mit.edu	37	11	1651199	1651228	+	In_Frame_Del	DEL	AGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	AGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	-	rs190828070|rs71454096|rs71025763|rs144216147|rs369130959	byFrequency	TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr11:1651199_1651228delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	ENST00000399676.2	+	1	167_196	c.129_158delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	c.(127-159)ggaggctgtgggggctgtggctccggctgtgcg>ggg	p.GCGGCGSGCA44del		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	44						keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ccggctgtggaggctgtgggggctgtggctccggctgtgcgggctgtggg	0.691																																						ENST00000399676.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33						c.(127-159)ggg>gg		keratin associated protein 5-5				1550,180,1680		393,53,711,32,63,453						3.0	0.7		dbSNP_130	23	2914,455,3725		670,91,1483,84,196,1023	no	codingComplex	KRTAP5-5	NM_001001480.2		1063,144,2194,116,259,1476	A1A1,A1A2,A1R,A2A2,A2R,RR		47.4908,50.7331,48.5434				4464,635,5405				SO:0001651	inframe_deletion	439915					keratin filament		g.chr11:1651199_1651228delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.129_158delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	11.37:g.1651199_1651228delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	ENSP00000382584:p.Gly44_Ala53del						p.GGCGGCGSGCA43del	NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	167_196	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	43	G -> GGCGS (in Ref. 1; BAD20201 and 2; CAF31639).				A8MWN2	In_Frame_Del	DEL	ENST00000399676.2	37	c.129_158delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	CCDS41592.1																																																																																				0.691	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			189	40						189	40	---	---	---	---
OR6C65	403282	broad.mit.edu	37	12	55794772	55794773	+	Frame_Shift_Ins	INS	-	-	T	rs558561555		TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr12:55794772_55794773insT	ENST00000379665.2	+	1	559_560	c.460_461insT	c.(460-462)attfs	p.I154fs		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	154						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						TTTTCTCATTATTTTTCCCCCC	0.436																																						ENST00000379665.2																			0				cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						c.(460-462)tttfs		olfactory receptor, family 6, subfamily C, member 65																																				SO:0001589	frameshift_variant	403282				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55794772_55794773insT		CCDS31821.1	12q13.2	2013-09-23			ENSG00000205328	ENSG00000205328		"""GPCR / Class A : Olfactory receptors"""	31295	protein-coding gene	gene with protein product							Standard	NM_001005518		Approved		uc010spl.2	A6NJZ3	OTTHUMG00000169955	ENST00000379665.2:c.465dupT	12.37:g.55794777_55794777dupT	ENSP00000368986:p.Ile154fs						p.F154fs	NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN			1	559_560	+			154					B2RNH9	Frame_Shift_Ins	INS	ENST00000379665.2	37	c.460_461insT	CCDS31821.1																																																																																				0.436	OR6C65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406674.1			22	402						22	402	---	---	---	---
RP11-536G4.2	0	broad.mit.edu	37	12	96221820	96221823	+	RNA	DEL	AGGA	AGGA	-	rs141403996	byFrequency	TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr12:96221820_96221823delAGGA	ENST00000553194.1	-	0	154																											agagaaagagaggaaggaaggaag	0.485														3663	0.73143	0.9145	0.6398	5008	,	,		12998	0.8631		0.5169	False		,,,				2504	0.6339					ENST00000553194.1																			0																																																			105369922							g.chr12:96221820_96221823delAGGA																													12.37:g.96221828_96221831delAGGA														0	154	-									RNA	DEL	ENST00000553194.1	37																																																																																						0.485	RP11-536G4.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000408622.1			2	4						2	4	---	---	---	---
SELPLG	6404	broad.mit.edu	37	12	109017425	109017454	+	In_Frame_Del	DEL	TCCATGGCTGCTGGTGGAGTGGTCTGTGCT	TCCATGGCTGCTGGTGGAGTGGTCTGTGCT	-	rs570639292|rs188941939|rs139943851|rs74792300	byFrequency	TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr12:109017425_109017454delTCCATGGCTGCTGGTGGAGTGGTCTGTGCT	ENST00000550948.1	-	2	854_883	c.630_659delAGCACAGACCACTCCACCAGCAGCCATGGA	c.(628-660)gaagcacagaccactccaccagcagccatggag>gag	p.210_220EAQTTPPAAME>E	SELPLG_ENST00000388962.3_In_Frame_Del_p.200_210EAQTTPPAAME>E|SELPLG_ENST00000228463.6_In_Frame_Del_p.226_236EAQTTPPAAME>E			Q14242	SELPL_HUMAN	selectin P ligand	210	12 X 10 AA tandem repeats.			M -> T (in Ref. 3; BAC05283). {ECO:0000305}.	blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interleukin-6 (GO:0071354)|leukocyte adhesive activation (GO:0050902)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						GGTCTGTGCCTCCATGGCTGCTGGTGGAGTGGTCTGTGCTTCCATGGCTG	0.622																																						ENST00000388962.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						c.(598-630)gag>ga		selectin P ligand																																				SO:0001651	inframe_deletion	6404				blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding	g.chr12:109017425_109017454delTCCATGGCTGCTGGTGGAGTGGTCTGTGCT		CCDS31895.1, CCDS31895.2, CCDS55881.1	12q24	2014-01-30						"""CD molecules"", ""Endogenous ligands"""	10722	protein-coding gene	gene with protein product		600738				7505206	Standard	NM_003006		Approved	PSGL-1, CD162	uc010sxe.2	Q14242		ENST00000550948.1:c.630_659delAGCACAGACCACTCCACCAGCAGCCATGGA	12.37:g.109017425_109017454delTCCATGGCTGCTGGTGGAGTGGTCTGTGCT	ENSP00000447752:p.Glu210_Met219del					SELPLG_ENST00000550948.1_In_Frame_Del_p.EAQTTPPAAME210del|SELPLG_ENST00000228463.6_In_Frame_Del_p.EAQTTPPAAME226del	p.EAQTTPPAAME200del	NM_003006.4	NP_002997.2	Q14242	SELPL_HUMAN			3	759_788	-			210			12 X 10 AA tandem repeats.		A8K2Y0|B4DQC3|B7Z5C7|J3KMX6|Q12775|Q6GTW7|Q8N7J7	In_Frame_Del	DEL	ENST00000550948.1	37	c.600_629delAGCACAGACCACTCCACCAGCAGCCATGGA	CCDS31895.2																																																																																				0.622	SELPLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403904.1			42	238						42	238	---	---	---	---
CD2BP2	10421	broad.mit.edu	37	16	30365550	30365552	+	In_Frame_Del	DEL	CAT	CAT	-	rs202017154		TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr16:30365550_30365552delCAT	ENST00000305596.3	-	3	345_347	c.170_172delATG	c.(169-174)gatggg>ggg	p.D57del	CD2BP2_ENST00000569466.1_In_Frame_Del_p.D57del|RP11-347C12.10_ENST00000563252.1_lincRNA	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	57					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of phosphatase activity (GO:0010923)|RNA splicing (GO:0008380)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	ribonucleoprotein complex binding (GO:0043021)			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						CTGGACCCCCCATCATCATCATC	0.532																																						ENST00000305596.3																			0				breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						c.(169-174)ggg>g		CD2 (cytoplasmic tail) binding protein 2																																				SO:0001651	inframe_deletion	10421				assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding	g.chr16:30365550_30365552delCAT	AF104222	CCDS10675.1	16p11.2	2012-04-17	2006-03-28		ENSG00000169217	ENSG00000169217		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 59"""	604470	"""CD2 antigen (cytoplasmic tail)-binding protein 2"""			9843987	Standard	NM_006110		Approved	LIN1, Snu40, PPP1R59	uc002dxs.3	O95400	OTTHUMG00000132397	ENST00000305596.3:c.170_172delATG	16.37:g.30365559_30365561delCAT	ENSP00000304903:p.Asp57del					CD2BP2_ENST00000569466.1_In_Frame_Del_p.DG57del	p.DG57del	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN			3	345_347	-			57					B2RDX2|Q9ULP2	In_Frame_Del	DEL	ENST00000305596.3	37	c.170_172delATG	CCDS10675.1																																																																																				0.532	CD2BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255528.1	NM_006110		7	963						7	963	---	---	---	---
TMC4	147798	broad.mit.edu	37	19	54676754	54676755	+	Frame_Shift_Ins	INS	-	-	C	rs374255910		TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr19:54676754_54676755insC	ENST00000376591.4	-	1	189_190	c.58_59insG	c.(58-60)gccfs	p.A20fs	TMC4_ENST00000301187.4_Frame_Shift_Ins_p.A20fs|TMC4_ENST00000476013.2_5'Flank	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	20					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CTCCCGGGGGGCCAGCCACCCC	0.634																																						ENST00000376591.4																			0				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22						c.(58-60)cccfs		transmembrane channel-like 4																																				SO:0001589	frameshift_variant	147798					integral to membrane		g.chr19:54676754_54676755insC	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.59dupG	19.37:g.54676756_54676756dupC	ENSP00000365776:p.Ala20fs					TMC4_ENST00000301187.4_Frame_Shift_Ins_p.P20fs	p.P20fs	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN			1	189_190	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		20					Q7Z5M3|Q8N5E4|Q8TBS7	Frame_Shift_Ins	INS	ENST00000376591.4	37	c.58_59insG	CCDS46174.1																																																																																				0.634	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			34	722						34	722	---	---	---	---
