#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
THTPA	79178	broad.mit.edu	37	14	24026160	24026160	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr14:24026160A>G	ENST00000288014.6	+	1	930	c.194A>G	c.(193-195)aAa>aGa	p.K65R	RP11-66N24.4_ENST00000555446.1_RNA|THTPA_ENST00000404535.3_Missense_Mutation_p.K65R|THTPA_ENST00000554789.1_Missense_Mutation_p.K65R|THTPA_ENST00000554970.1_Missense_Mutation_p.K65R|RP11-66N24.4_ENST00000556354.1_RNA|RP11-66N24.4_ENST00000553985.1_RNA|THTPA_ENST00000556015.1_Missense_Mutation_p.K65R			Q9BU02	THTPA_HUMAN	thiamine triphosphatase	65	CYTH. {ECO:0000255|PROSITE- ProRule:PRU01044}.				dephosphorylation (GO:0016311)|generation of precursor metabolites and energy (GO:0006091)|small molecule metabolic process (GO:0044281)|thiamine diphosphate metabolic process (GO:0042357)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)|thiamin-triphosphatase activity (GO:0050333)			large_intestine(1)|prostate(2)	3	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00643)		TGGGAGCTCAAATGTCCTGGA	0.572																																						ENST00000288014.6																			0				large_intestine(1)|prostate(2)	3						c.(193-195)aAa>aGa		thiamine triphosphatase	Thiamine(DB00152)						78.0	64.0	69.0					14																	24026160		2203	4300	6503	SO:0001583	missense	0				dephosphorylation|generation of precursor metabolites and energy|thiamine metabolic process	cytosol|nucleolus|soluble fraction	thiamin-triphosphatase activity	g.chr14:24026160A>G	AF432862	CCDS32053.1, CCDS58306.1, CCDS58307.1	14q11.2	2011-04-28					3.6.1.28		18987	protein-coding gene	gene with protein product		611612				11827967	Standard	NR_046051		Approved	THTPASE	uc001wkh.5	Q9BU02		ENST00000288014.6:c.194A>G	14.37:g.24026160A>G	ENSP00000288014:p.Lys65Arg					THTPA_ENST00000404535.3_Missense_Mutation_p.K65R|THTPA_ENST00000554789.1_Missense_Mutation_p.K65R|THTPA_ENST00000556015.1_Missense_Mutation_p.K65R|RP11-66N24.4_ENST00000556354.1_RNA|THTPA_ENST00000554970.1_Missense_Mutation_p.K65R|RP11-66N24.4_ENST00000553985.1_RNA|RP11-66N24.4_ENST00000555446.1_RNA	p.K65R			Q9BU02	THTPA_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	1	930	+	all_cancers(95;0.000251)		65					D3DS50|G3V4J3	Missense_Mutation	SNP	ENST00000288014.6	37	c.194A>G	CCDS32053.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.440092	0.83993	.	.	ENSG00000157306	ENST00000404535;ENST00000288014;ENST00000557630;ENST00000556015;ENST00000554970;ENST00000554789	T;T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47;0.47	5.91	4.75	0.60458	CYTH domain (2);CYTH-like domain (1);	0.044969	0.85682	D	0.000000	T	0.75213	0.3819	M	0.91249	3.19	0.58432	D	0.999999	D;D	0.76494	0.999;0.998	D;D	0.68353	0.943;0.957	T	0.78807	-0.2059	10	0.62326	D	0.03	-15.56	10.7037	0.45942	0.8571:0.0:0.0:0.1429	.	65;65	G3V4J3;Q9BU02	.;THTPA_HUMAN	R	65	ENSP00000384580:K65R;ENSP00000288014:K65R;ENSP00000452281:K65R;ENSP00000451835:K65R;ENSP00000452465:K65R;ENSP00000450459:K65R	ENSP00000288014:K65R	K	+	2	0	THTPA	23096000	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.474000	0.73578	1.033000	0.39918	-0.336000	0.08194	AAA		0.572	THTPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413800.2			15	27	0	0	0	1	0	15	27				
CACNB4	785	broad.mit.edu	37	2	152732968	152732968	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr2:152732968C>A	ENST00000539935.1	-	5	560	c.493G>T	c.(493-495)Gaa>Taa	p.E165*	CACNB4_ENST00000534999.1_Nonsense_Mutation_p.E131*|CACNB4_ENST00000397327.2_Nonsense_Mutation_p.E118*|CACNB4_ENST00000201943.5_Nonsense_Mutation_p.E165*|CACNB4_ENST00000427385.1_Nonsense_Mutation_p.E147*|CACNB4_ENST00000360283.6_Nonsense_Mutation_p.E131*	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	165					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|cAMP metabolic process (GO:0046058)|cellular calcium ion homeostasis (GO:0006874)|detection of light stimulus involved in visual perception (GO:0050908)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|membrane depolarization (GO:0051899)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|neuronal action potential propagation (GO:0019227)|Peyer's patch development (GO:0048541)|regulation of voltage-gated calcium channel activity (GO:1901385)|spleen development (GO:0048536)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)|transport (GO:0006810)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CTTTTTTGTTCTTGCTGGATC	0.408																																						ENST00000360283.6																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(391-393)Gaa>Taa		calcium channel, voltage-dependent, beta 4 subunit	Verapamil(DB00661)						135.0	128.0	130.0					2																	152732968		1901	4127	6028	SO:0001587	stop_gained	785				axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr2:152732968C>A	AF038852	CCDS46426.1, CCDS46427.1, CCDS46428.1, CCDS54409.1	2q22-q23	2009-09-04			ENSG00000182389	ENSG00000182389		"""Calcium channel subunits"""	1404	protein-coding gene	gene with protein product		601949				9628818	Standard	NM_000726		Approved	EJM4	uc002tya.3	O00305	OTTHUMG00000155091	ENST00000539935.1:c.493G>T	2.37:g.152732968C>A	ENSP00000438949:p.Glu165*					CACNB4_ENST00000427385.1_Nonsense_Mutation_p.E147*|CACNB4_ENST00000397327.2_Nonsense_Mutation_p.E118*|CACNB4_ENST00000539935.1_Nonsense_Mutation_p.E165*|CACNB4_ENST00000201943.5_Nonsense_Mutation_p.E165*|CACNB4_ENST00000534999.1_Nonsense_Mutation_p.E131*	p.E131*			O00305	CACB4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.156)	4	648	-			165			SH3.		A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40	Nonsense_Mutation	SNP	ENST00000539935.1	37	c.391G>T	CCDS46426.1	.	.	.	.	.	.	.	.	.	.	C	36	5.784627	0.96937	.	.	ENSG00000182389	ENST00000539935;ENST00000360283;ENST00000543269;ENST00000439467;ENST00000534999;ENST00000397327;ENST00000427385;ENST00000201943;ENST00000339254	.	.	.	5.63	5.63	0.86233	.	0.046855	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-21.2862	20.0499	0.97621	0.0:1.0:0.0:0.0	.	.	.	.	X	165;131;122;160;131;118;147;165;165	.	ENSP00000201943:E165X	E	-	1	0	CACNB4	152441214	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.754000	0.85163	2.798000	0.96311	0.655000	0.94253	GAA		0.408	CACNB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338385.4	NM_000726.3		10	16	1	0	1.5842e-08	1	1.74262e-08	10	16				
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867	byFrequency	TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr1:145302714A>G	ENST00000369339.3	+	5	592	c.339A>G	c.(337-339)ttA>ttG	p.L113L	NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000342960.5_Silent_p.L384L|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	384						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527																																						ENST00000342960.5																			6	Substitution - coding silent(6)	p.L113L(3)|p.L384L(3)	prostate(2)|kidney(2)|central_nervous_system(2)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(1150-1152)ttA>ttG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145302714A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.339A>G	1.37:g.145302714A>G						NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR	p.L384L	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	8	1187	+	all_hematologic(923;0.032)		384					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.1152A>G																																																																																					0.527	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		4	156	0	0	0	1	0	4	156				
SERPINE3	647174	broad.mit.edu	37	13	51918393	51918393	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr13:51918393A>G	ENST00000521255.1	+	2	322	c.262A>G	c.(262-264)Agg>Ggg	p.R88G	SERPINE3_ENST00000524365.1_Missense_Mutation_p.R88G|SERPINE3_ENST00000400389.4_Missense_Mutation_p.R88G	NM_001101320.1	NP_001094790.1	A8MV23	SERP3_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3	88					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			ovary(2)	2						CACAGACAAAAGGGTGAAAGA	0.488																																						ENST00000524365.1																			0				ovary(2)	2						c.(262-264)Agg>Ggg		serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3							60.0	61.0	61.0					13																	51918393		2034	4184	6218	SO:0001583	missense	647174				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr13:51918393A>G	AX772926	CCDS53870.1	13q14.3	2014-02-18			ENSG00000253309	ENSG00000253309		"""Serine (or cysteine) peptidase inhibitors"""	24774	protein-coding gene	gene with protein product						24172014	Standard	NM_001101320		Approved		uc001vfh.2	A8MV23	OTTHUMG00000016943	ENST00000521255.1:c.262A>G	13.37:g.51918393A>G	ENSP00000428316:p.Arg88Gly					SERPINE3_ENST00000521255.1_Missense_Mutation_p.R88G|SERPINE3_ENST00000400389.4_Missense_Mutation_p.R88G	p.R88G			A8MV23	SERP3_HUMAN			5	887	+			88					B1V8P3	Missense_Mutation	SNP	ENST00000521255.1	37	c.262A>G	CCDS53870.1	.	.	.	.	.	.	.	.	.	.	A	16.76	3.212422	0.58452	.	.	ENSG00000253309	ENST00000524365;ENST00000521255;ENST00000400389	D;D;D	0.84442	-1.85;-1.85;-1.85	5.02	2.41	0.29592	Serpin domain (3);	.	.	.	.	T	0.80444	0.4624	L	0.38953	1.18	0.09310	N	1	P;P	0.44521	0.622;0.837	B;B	0.43331	0.217;0.416	T	0.70425	-0.4875	9	0.59425	D	0.04	.	11.3728	0.49711	0.7133:0.2867:0.0:0.0	.	88;88	A8MV23-2;A8MV23	.;SERP3_HUMAN	G	88	ENSP00000430755:R88G;ENSP00000428316:R88G;ENSP00000441468:R88G	ENSP00000441468:R88G	R	+	1	2	SERPINE3	50816394	0.002000	0.14202	0.003000	0.11579	0.949000	0.60115	1.859000	0.39418	0.924000	0.37069	0.533000	0.62120	AGG		0.488	SERPINE3-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045021.2	NM_001101320		3	40	0	0	0	1	0	3	40				
KIAA1429	25962	broad.mit.edu	37	8	95549369	95549369	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr8:95549369C>G	ENST00000297591.5	-	4	352	c.277G>C	c.(277-279)Gat>Cat	p.D93H	KIAA1429_ENST00000437199.1_Missense_Mutation_p.D93H|RP11-267M23.3_ENST00000521010.1_RNA|KIAA1429_ENST00000421249.2_Missense_Mutation_p.D93H	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	93					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GTATTCTCATCATATTCCAGG	0.333																																						ENST00000297591.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(277-279)Gat>Cat		KIAA1429							106.0	103.0	104.0					8																	95549369		2203	4300	6503	SO:0001583	missense	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95549369C>G	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.277G>C	8.37:g.95549369C>G	ENSP00000297591:p.Asp93His					KIAA1429_ENST00000421249.2_Missense_Mutation_p.D93H|KIAA1429_ENST00000437199.1_Missense_Mutation_p.D93H	p.D93H	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		4	352	-	Breast(36;3.29e-05)		93					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	c.277G>C	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.170322	0.78452	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	T;T;T	0.46819	0.87;0.86;0.86	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.63165	0.2488	L	0.44542	1.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.64015	-0.6506	10	0.52906	T	0.07	-17.5006	18.5965	0.91231	0.0:1.0:0.0:0.0	.	93;93	Q69YN4-4;Q69YN4	.;VIR_HUMAN	H	93	ENSP00000297591:D93H;ENSP00000395600:D93H;ENSP00000398390:D93H	ENSP00000297591:D93H	D	-	1	0	KIAA1429	95618545	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	7.400000	0.79949	2.387000	0.81309	0.467000	0.42956	GAT		0.333	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		4	145	0	0	0	1	0	4	145				
EP300	2033	broad.mit.edu	37	22	41573977	41573977	+	Missense_Mutation	SNP	C	C	T	rs201569846		TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr22:41573977C>T	ENST00000263253.7	+	31	7481	c.6262C>T	c.(6262-6264)Cgg>Tgg	p.R2088W	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2088	Interaction with HTLV-1 Tax.|Interaction with NCOA2.	Interaction with NCOA2.			apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CATCAAGCAGCGGGCTGCCAA	0.602			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				C|||	1	0.000199681	0.0	0.0	5008	,	,		21677	0.0		0.001	False		,,,				2504	0.0					ENST00000263253.7				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(6262-6264)Cgg>Tgg		E1A binding protein p300							65.0	64.0	64.0					22																	41573977		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41573977C>T	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.6262C>T	22.37:g.41573977C>T	ENSP00000263253:p.Arg2088Trp					RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	p.R2088W	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			31	7481	+			2088			Interaction with HTLV-1 Tax.|Interaction with NCOA2.	Interaction with NCOA2.	B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.6262C>T	CCDS14010.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	10.74	1.435095	0.25813	.	.	ENSG00000100393	ENST00000263253	D	0.89415	-2.51	4.94	3.92	0.45320	Nuclear receptor coactivator, CREB-bp-like, interlocking (2);Nuclear receptor coactivator, interlocking (1);	0.000000	0.43919	D	0.000509	D	0.93074	0.7795	M	0.76838	2.35	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.92554	0.6052	10	0.87932	D	0	-14.1256	8.346	0.32272	0.1536:0.7672:0.0:0.0792	.	2088	Q09472	EP300_HUMAN	W	2088	ENSP00000263253:R2088W	ENSP00000263253:R2088W	R	+	1	2	EP300	39903923	1.000000	0.71417	1.000000	0.80357	0.633000	0.38033	1.010000	0.29898	1.078000	0.41014	-0.258000	0.10820	CGG		0.602	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		30	56	0	0	0	1	0	30	56				
UACA	55075	broad.mit.edu	37	15	70959376	70959376	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr15:70959376T>C	ENST00000322954.6	-	16	3832	c.3647A>G	c.(3646-3648)aAa>aGa	p.K1216R	UACA_ENST00000560441.1_Missense_Mutation_p.K1201R|UACA_ENST00000379983.2_Missense_Mutation_p.K1203R|UACA_ENST00000539319.1_Missense_Mutation_p.K1107R	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1216					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						CTCTAATTTTTTTAATGCTTG	0.338																																						ENST00000322954.6																			0				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						c.(3646-3648)aAa>aGa		uveal autoantigen with coiled-coil domains and ankyrin repeats							98.0	96.0	97.0					15																	70959376		2199	4298	6497	SO:0001583	missense	55075					cytoskeleton|extracellular region		g.chr15:70959376T>C	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.3647A>G	15.37:g.70959376T>C	ENSP00000314556:p.Lys1216Arg					UACA_ENST00000379983.2_Missense_Mutation_p.K1203R|UACA_ENST00000539319.1_Missense_Mutation_p.K1107R|UACA_ENST00000560441.1_Missense_Mutation_p.K1201R	p.K1216R	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN			16	3832	-			1216					G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	c.3647A>G	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	T	11.86	1.765793	0.31228	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.35789	1.29;1.31;1.78	5.66	3.36	0.38483	.	0.177952	0.39341	N	0.001395	T	0.29491	0.0735	M	0.62723	1.935	0.09310	N	1	B;B;B;P	0.41232	0.005;0.012;0.021;0.743	B;B;B;B	0.38755	0.023;0.01;0.01;0.281	T	0.13872	-1.0493	10	0.23302	T	0.38	-15.2074	4.8805	0.13677	0.0:0.2393:0.1632:0.5975	.	1107;1216;1216;1203	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	R	1216;1203;1107	ENSP00000314556:K1216R;ENSP00000369319:K1203R;ENSP00000438667:K1107R	ENSP00000314556:K1216R	K	-	2	0	UACA	68746430	0.186000	0.23225	0.007000	0.13788	0.919000	0.55068	1.410000	0.34691	0.430000	0.26230	0.533000	0.62120	AAA		0.338	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			18	61	0	0	0	1	0	18	61				
PTCH2	8643	broad.mit.edu	37	1	45293750	45293750	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr1:45293750G>A	ENST00000372192.3	-	14	1953	c.1823C>T	c.(1822-1824)gCc>gTc	p.A608V	PTCH2_ENST00000447098.2_Missense_Mutation_p.A608V	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	608					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CTGGCTGCTGGCTTCACAGTG	0.627									Basal Cell Nevus syndrome																													ENST00000447098.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50						c.(1822-1824)gCc>gTc		patched 2							82.0	90.0	87.0					1																	45293750		2203	4300	6503	SO:0001583	missense	8643	Basal Cell Nevus syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45293750G>A	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.1823C>T	1.37:g.45293750G>A	ENSP00000361266:p.Ala608Val					PTCH2_ENST00000372192.3_Missense_Mutation_p.A608V	p.A608V	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN			14	1834	-	Acute lymphoblastic leukemia(166;0.155)		608					O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	ENST00000372192.3	37	c.1823C>T	CCDS516.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.440757	0.43326	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.92545	-3.05;-3.06	4.76	3.82	0.43975	.	0.472269	0.17926	N	0.157347	D	0.86594	0.5970	N	0.19112	0.55	0.33470	D	0.586079	B;B	0.16396	0.006;0.017	B;B	0.26094	0.006;0.066	D	0.84484	0.0607	10	0.36615	T	0.2	-36.8093	14.7631	0.69619	0.0:0.1455:0.8545:0.0	.	608;608	Q9Y6C5-2;Q9Y6C5	.;PTC2_HUMAN	V	608	ENSP00000389703:A608V;ENSP00000361266:A608V	ENSP00000361266:A608V	A	-	2	0	PTCH2	45066337	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.001000	0.63946	0.937000	0.37394	0.557000	0.71058	GCC		0.627	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		16	172	0	0	0	1	0	16	172				
GLUD1P2	100381203	broad.mit.edu	37	10	48968566	48968566	+	RNA	SNP	A	A	G	rs201727873		TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr10:48968566A>G	ENST00000594520.1	+	0	723									glutamate dehydrogenase 1 pseudogene 2																		ACAGGATAACAAACTGGAAAA	0.318																																						ENST00000594520.1																			0																																																			0							g.chr10:48968566A>G	X66313, X66315, X66319		10q11.22	2013-02-15	2010-01-18	2010-01-18	ENSG00000227781				4337	pseudogene	pseudogene			"""glutamate dehydrogenase pseudogene 2"""	GLUDP2		8486350	Standard			Approved				OTTHUMG00000018156		10.37:g.48968566A>G														0	723	+									RNA	SNP	ENST00000594520.1	37																																																																																						0.318	GLUD1P2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000461126.1	NG_016765		6	33	0	0	0	1	0	6	33				
CNST	163882	broad.mit.edu	37	1	246810985	246810985	+	Silent	SNP	A	A	G			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr1:246810985A>G	ENST00000366513.4	+	9	1751	c.1482A>G	c.(1480-1482)ggA>ggG	p.G494G	CNST_ENST00000366512.3_Silent_p.G494G|CNST_ENST00000483271.1_3'UTR	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	494					negative regulation of phosphatase activity (GO:0010923)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	connexin binding (GO:0071253)|phosphatase binding (GO:0019902)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						ACAGTGATGGAAAATCACCAC	0.473																																						ENST00000366513.4																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						c.(1480-1482)ggA>ggG		consortin, connexin sorting protein							70.0	73.0	72.0					1																	246810985		2203	4300	6503	SO:0001819	synonymous_variant	163882				positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding	g.chr1:246810985A>G	AK056563	CCDS1628.1, CCDS44343.1	1q44	2012-04-17	2009-11-03	2009-11-03	ENSG00000162852	ENSG00000162852		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26486	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 64"""	613439	"""chromosome 1 open reading frame 71"""	C1orf71		19864490	Standard	NM_152609		Approved	FLJ32001, PPP1R64	uc001ibp.3	Q6PJW8	OTTHUMG00000040090	ENST00000366513.4:c.1482A>G	1.37:g.246810985A>G						CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Silent_p.G494G	p.G494G	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN			9	1751	+			494					Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Silent	SNP	ENST00000366513.4	37	c.1482A>G	CCDS1628.1																																																																																				0.473	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096780.1	NM_152609		8	78	0	0	0	1	0	8	78				
ERBB2	2064	broad.mit.edu	37	17	37881014	37881014	+	Silent	SNP	T	T	C			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr17:37881014T>C	ENST00000269571.5	+	20	2502	c.2343T>C	c.(2341-2343)taT>taC	p.Y781Y	MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000584450.1_Silent_p.Y781Y|ERBB2_ENST00000541774.1_Silent_p.Y766Y|ERBB2_ENST00000445658.2_Silent_p.Y505Y|ERBB2_ENST00000540147.1_Silent_p.Y751Y|ERBB2_ENST00000584601.1_Silent_p.Y751Y|ERBB2_ENST00000406381.2_Silent_p.Y751Y			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	781	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GCTCCCCATATGTCTCCCGCC	0.597		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												ENST00000406381.2		1		Dom	yes		17	17q21.1	2064	"""A, Mis, O"""	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			"""breast, ovarian, other tumour types, NSCLC, gastric"""		0				NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247						c.(2251-2253)taT>taC		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						90.0	87.0	88.0					17																	37881014		2203	4300	6503	SO:0001819	synonymous_variant	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37881014T>C	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2343T>C	17.37:g.37881014T>C		TCGA GBM(5;<1E-08)				ERBB2_ENST00000584601.1_Silent_p.Y751Y|ERBB2_ENST00000584450.1_Silent_p.Y781Y|ERBB2_ENST00000541774.1_Silent_p.Y766Y|ERBB2_ENST00000540147.1_Silent_p.Y751Y|ERBB2_ENST00000445658.2_Silent_p.Y505Y|ERBB2_ENST00000269571.5_Silent_p.Y781Y	p.Y751Y	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	22	2763	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	781			Protein kinase.		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Silent	SNP	ENST00000269571.5	37	c.2253T>C	CCDS32642.1																																																																																				0.597	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			27	65	0	0	0	1	0	27	65				
KIF25	3834	broad.mit.edu	37	6	168430272	168430272	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr6:168430272T>A	ENST00000443060.2	+	3	398	c.7T>A	c.(7-9)Tgg>Agg	p.W3R	KIF25_ENST00000351261.3_Missense_Mutation_p.W3R|KIF25_ENST00000354419.2_Missense_Mutation_p.W3R			Q9UIL4	KIF25_HUMAN	kinesin family member 25	3					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of autophagy (GO:0010507)|organelle organization (GO:0006996)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.W3R(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CCAGATGACATGGACCTCAGG	0.612																																						ENST00000443060.2																			1	Substitution - Missense(1)	p.W3R(1)	skin(1)	NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(7-9)Tgg>Agg		kinesin family member 25							127.0	120.0	122.0					6																	168430272		2203	4300	6503	SO:0001583	missense	0				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr6:168430272T>A	AB012722	CCDS5305.1, CCDS43530.1	6q27	2008-02-05	2003-01-09	2003-01-10	ENSG00000125337	ENSG00000125337		"""Kinesins"""	6390	protein-coding gene	gene with protein product		603815	"""kinesin-like 3"""	KNSL3		9925910	Standard	NM_030615		Approved		uc003qwk.1	Q9UIL4	OTTHUMG00000016035	ENST00000443060.2:c.7T>A	6.37:g.168430272T>A	ENSP00000388878:p.Trp3Arg					KIF25_ENST00000354419.2_Missense_Mutation_p.W3R|KIF25_ENST00000351261.3_Missense_Mutation_p.W3R	p.W3R			Q9UIL4	KIF25_HUMAN		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)	3	398	+		Breast(66;1.07e-05)|Ovarian(120;0.0728)	3			Kinesin-motor.		O94775|Q5SZU9	Missense_Mutation	SNP	ENST00000443060.2	37	c.7T>A	CCDS5305.1	.	.	.	.	.	.	.	.	.	.	t	0.006	-2.097855	0.00360	.	.	ENSG00000125337	ENST00000443060;ENST00000354419;ENST00000351261	T;T;T	0.72725	-0.68;-0.68;0.12	0.785	0.785	0.18584	.	0.000000	0.46758	U	0.000269	T	0.19604	0.0471	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.21552	-1.0242	9	.	.	.	.	3.8317	0.08877	0.0:0.0:0.0:1.0	.	3;3	Q9UIL4-2;Q9UIL4	.;KIF25_HUMAN	R	3	ENSP00000388878:W3R;ENSP00000346401:W3R;ENSP00000252688:W3R	.	W	+	1	0	KIF25	168173121	0.001000	0.12720	0.011000	0.14972	0.015000	0.08874	-0.031000	0.12287	0.590000	0.29694	0.334000	0.21626	TGG		0.612	KIF25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362509.1			4	178	0	0	0	1	0	4	178				
BCRP7	100133163	broad.mit.edu	37	22	18846098	18846098	+	3'UTR	SNP	G	G	A	rs9306211	byFrequency	TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr22:18846098G>A	ENST00000412938.1	+	0	3456																											ATGCCTCGGCGCTCGATCTCC	0.622																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18846098G>A																												ENST00000412938.1:c.*3453G>A	22.37:g.18846098G>A														0	3456	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.622	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			6	43	0	0	0	1	0	6	43				
SAG	6295	broad.mit.edu	37	2	234237163	234237163	+	Silent	SNP	C	C	T			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr2:234237163C>T	ENST00000409110.1	+	8	782	c.552C>T	c.(550-552)gcC>gcT	p.A184A	SAG_ENST00000449594.2_Silent_p.A50A	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	184					cell surface receptor signaling pathway (GO:0007166)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cytosol (GO:0005829)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		TACAGCATGCCCCACTTGAGA	0.587																																						ENST00000409110.1																			0				cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(550-552)gcC>gcT		S-antigen; retina and pineal gland (arrestin)							158.0	144.0	148.0					2																	234237163		2012	4176	6188	SO:0001819	synonymous_variant	6295				rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity	g.chr2:234237163C>T		CCDS46545.1	2q37.1	2013-02-14			ENSG00000130561	ENSG00000130561			10521	protein-coding gene	gene with protein product	"""arrestin 1"""	181031				2249983	Standard	NM_000541		Approved	ARRESTIN, RP47	uc002vuh.2	P10523	OTTHUMG00000153213	ENST00000409110.1:c.552C>T	2.37:g.234237163C>T						SAG_ENST00000449594.2_Silent_p.A50A	p.A184A	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)	8	782	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)	184					A0FDN6|Q53SV3|Q99858	Silent	SNP	ENST00000409110.1	37	c.552C>T	CCDS46545.1																																																																																				0.587	SAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330126.1	NM_000541		7	140	0	0	0	1	0	7	140				
CABIN1	23523	broad.mit.edu	37	22	24460518	24460518	+	Silent	SNP	G	G	A			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr22:24460518G>A	ENST00000398319.2	+	15	2290	c.1905G>A	c.(1903-1905)ctG>ctA	p.L635L	CABIN1_ENST00000405822.2_Silent_p.L585L|CABIN1_ENST00000263119.5_Silent_p.L635L	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	635					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGCAGGCCCTGGAGAACTATG	0.532																																						ENST00000398319.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(1903-1905)ctG>ctA		calcineurin binding protein 1							225.0	214.0	218.0					22																	24460518		2203	4300	6503	SO:0001819	synonymous_variant	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24460518G>A	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.1905G>A	22.37:g.24460518G>A						CABIN1_ENST00000263119.5_Silent_p.L635L|CABIN1_ENST00000405822.2_Silent_p.L585L	p.L635L	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN			15	2290	+			635					G5E9F3|Q6PHY0|Q9Y460	Silent	SNP	ENST00000398319.2	37	c.1905G>A	CCDS13823.1																																																																																				0.532	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		9	329	0	0	0	1	0	9	329				
TUBB8P7	197331	broad.mit.edu	37	16	90162620	90162620	+	RNA	SNP	T	T	G	rs567602838	byFrequency	TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	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																																																			0							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		6	150	0	0	0	1	0	6	150				
NINL	22981	broad.mit.edu	37	20	25439071	25439071	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr20:25439071C>T	ENST00000278886.6	-	22	3864	c.3791G>A	c.(3790-3792)cGc>cAc	p.R1264H	NINL_ENST00000464285.1_5'UTR|NINL_ENST00000422516.1_Missense_Mutation_p.R915H	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1264					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)	p.R1264L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GCTGAGCAGGCGATGCAGCTC	0.667																																						ENST00000278886.6																			1	Substitution - Missense(1)	p.R1264L(1)	lung(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(3790-3792)cGc>cAc		ninein-like							46.0	39.0	41.0					20																	25439071		2203	4300	6503	SO:0001583	missense	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25439071C>T		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.3791G>A	20.37:g.25439071C>T	ENSP00000278886:p.Arg1264His					NINL_ENST00000422516.1_Missense_Mutation_p.R915H|NINL_ENST00000464285.1_5'UTR	p.R1264H	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN			22	3864	-			1264					A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	c.3791G>A	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	C	9.771	1.172761	0.21704	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.35421	1.31;1.31	2.78	-5.23	0.02798	.	2.275330	0.01873	N	0.037357	T	0.18257	0.0438	N	0.08118	0	0.09310	N	1	B;B;B	0.17465	0.002;0.022;0.005	B;B;B	0.08055	0.001;0.003;0.003	T	0.16276	-1.0408	10	0.19590	T	0.45	-3.8533	9.5935	0.39561	0.0:0.3777:0.0:0.6223	.	915;1264;55	Q9Y2I6-2;Q9Y2I6;Q9HAD5	.;NINL_HUMAN;.	H	1264;915	ENSP00000278886:R1264H;ENSP00000410431:R915H	ENSP00000278886:R1264H	R	-	2	0	NINL	25387071	0.005000	0.15991	0.002000	0.10522	0.028000	0.11728	-1.676000	0.01946	-1.447000	0.01943	-1.484000	0.00983	CGC		0.667	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		12	42	0	0	0	1	0	12	42				
MYT1	4661	broad.mit.edu	37	20	62851156	62851156	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr20:62851156A>T	ENST00000328439.1	+	13	2426	c.2062A>T	c.(2062-2064)Agc>Tgc	p.S688C	MYT1_ENST00000360149.4_Missense_Mutation_p.S390C|MYT1_ENST00000536311.1_Missense_Mutation_p.S715C	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					cagcagcagcagctgcagcag	0.602																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(2143-2145)Agc>Tgc		myelin transcription factor 1							54.0	54.0	54.0					20																	62851156		2203	4300	6503	SO:0001583	missense	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62851156A>T	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.2062A>T	20.37:g.62851156A>T	ENSP00000327465:p.Ser688Cys					MYT1_ENST00000328439.1_Missense_Mutation_p.S688C|MYT1_ENST00000360149.4_Missense_Mutation_p.S390C	p.S715C			Q01538	MYT1_HUMAN			13	2507	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		688			Ser-rich.		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	37	c.2143A>T	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	A	13.08	2.129686	0.37630	.	.	ENSG00000196132	ENST00000360149;ENST00000328439;ENST00000536311	T;T;T	0.59364	0.27;0.27;0.27	5.2	5.2	0.72013	Myelin transcription factor 1 (1);	0.000000	0.64402	D	0.000001	T	0.72486	0.3466	L	0.58101	1.795	0.54753	D	0.999989	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.85130	0.951;0.984;0.997	T	0.75088	-0.3441	10	0.62326	D	0.03	-14.7975	15.0524	0.71885	1.0:0.0:0.0:0.0	.	715;688;390	F5H7M8;Q01538;Q6P6D5	.;MYT1_HUMAN;.	C	390;688;715	ENSP00000353269:S390C;ENSP00000327465:S688C;ENSP00000442412:S715C	ENSP00000327465:S688C	S	+	1	0	MYT1	62321600	1.000000	0.71417	0.991000	0.47740	0.163000	0.22366	2.740000	0.47418	1.947000	0.56498	0.533000	0.62120	AGC		0.602	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		3	32	0	0	0	1	0	3	32				
CALCOCO1	57658	broad.mit.edu	37	12	54118947	54118947	+	Missense_Mutation	SNP	T	T	C	rs535194693		TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr12:54118947T>C	ENST00000550804.1	-	2	140	c.80A>G	c.(79-81)aAc>aGc	p.N27S	CALCOCO1_ENST00000547885.1_5'UTR|CALCOCO1_ENST00000262059.4_Missense_Mutation_p.N27S|CALCOCO1_ENST00000548263.1_Missense_Mutation_p.N27S|CALCOCO1_ENST00000430117.2_Missense_Mutation_p.N27S			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	27	N-terminal AD (CTNNB1 binding site). {ECO:0000250}.|p300 KIX-binding. {ECO:0000250}.				intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)	p.N27S(1)		NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						CACCTTGGTGTTGGGGATGTA	0.542																																						ENST00000548263.1																			1	Substitution - Missense(1)	p.N27S(1)	ovary(1)	NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(79-81)aAc>aGc		calcium binding and coiled-coil domain 1							205.0	159.0	174.0					12																	54118947		2203	4300	6503	SO:0001583	missense	57658				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding	g.chr12:54118947T>C	AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"""coiled-coil leucine zipper coactivator 1"", ""inorganic pyrophosphatase activator"""					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.80A>G	12.37:g.54118947T>C	ENSP00000449960:p.Asn27Ser					CALCOCO1_ENST00000547885.1_5'UTR|CALCOCO1_ENST00000430117.2_Missense_Mutation_p.N27S|CALCOCO1_ENST00000262059.4_Missense_Mutation_p.N27S|CALCOCO1_ENST00000550804.1_Missense_Mutation_p.N27S	p.N27S			Q9P1Z2	CACO1_HUMAN			2	128	-			27			N-terminal AD (CTNNB1 binding site) (By similarity).|p300 KIX-binding (By similarity).		B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Missense_Mutation	SNP	ENST00000550804.1	37	c.80A>G	CCDS8864.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.150445	0.78001	.	.	ENSG00000012822	ENST00000430117;ENST00000262059;ENST00000413257;ENST00000548263;ENST00000550804;ENST00000549935;ENST00000551900;ENST00000546619;ENST00000547949;ENST00000553154;ENST00000549784;ENST00000549173;ENST00000548177;ENST00000552623;ENST00000549349;ENST00000549688;ENST00000547885;ENST00000548431	T;T;T;T;T;T;T;T;T;T;T;T	0.11385	2.78;2.78;2.78;2.78;2.78;2.78;2.78;2.78;2.78;2.78;2.78;2.78	4.86	4.86	0.63082	.	0.000000	0.49305	D	0.000158	T	0.17238	0.0414	L	0.38175	1.15	0.35200	D	0.774219	D;P;P;P;P	0.56746	0.977;0.568;0.943;0.512;0.954	P;B;P;B;P	0.54759	0.76;0.237;0.496;0.152;0.63	T	0.11518	-1.0584	10	0.41790	T	0.15	-23.7115	13.8751	0.63648	0.0:0.0:0.0:1.0	.	27;27;27;27;27	B4DG60;E9PAU0;Q9P1Z2-3;Q9P1Z2-2;Q9P1Z2	.;.;.;.;CACO1_HUMAN	S	27	ENSP00000397189:N27S;ENSP00000262059:N27S;ENSP00000447647:N27S;ENSP00000449960:N27S;ENSP00000450083:N27S;ENSP00000448621:N27S;ENSP00000447117:N27S;ENSP00000449058:N27S;ENSP00000446820:N27S;ENSP00000448026:N27S;ENSP00000450012:N27S;ENSP00000449796:N27S	ENSP00000262059:N27S	N	-	2	0	CALCOCO1	52405214	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.578000	0.53892	2.188000	0.69820	0.533000	0.62120	AAC		0.542	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407233.2	NM_020898		13	83	0	0	0	1	0	13	83				
CYP27B1	1594	broad.mit.edu	37	12	58159257	58159257	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr12:58159257G>A	ENST00000228606.4	-	3	621	c.412C>T	c.(412-414)Cgc>Tgc	p.R138C	CYP27B1_ENST00000546496.1_5'UTR	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	138					bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	AGGAGACTGCGGAGCCTTTGC	0.672											OREG0021953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000228606.4																			0				central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15						c.(412-414)Cgc>Tgc		cytochrome P450, family 27, subfamily B, polypeptide 1	Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)						31.0	34.0	33.0					12																	58159257		2200	4292	6492	SO:0001583	missense	1594				bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding	g.chr12:58159257G>A	AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012		"""Cytochrome P450s"""	2606	protein-coding gene	gene with protein product	"""VDDR I"", ""1alpha(OH)ase"", ""25-Hydroxyvitamin D3 1alpha-hydroxylase"""	609506	"""cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"""	VDD1, PDDR		9295274, 9344864	Standard	NM_000785		Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457	ENST00000228606.4:c.412C>T	12.37:g.58159257G>A	ENSP00000228606:p.Arg138Cys		OREG0021953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1028	RP11-571M6.13_ENST00000546609.1_RNA|CYP27B1_ENST00000546496.1_5'UTR	p.R138C	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		3	621	-	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		138					B2RC61|Q548T3	Missense_Mutation	SNP	ENST00000228606.4	37	c.412C>T	CCDS8954.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.641353	0.87859	.	.	ENSG00000111012	ENST00000228606	D	0.85955	-2.05	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.92828	0.7719	M	0.83852	2.665	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93671	0.6990	10	0.87932	D	0	.	17.3428	0.87301	0.0:0.0:1.0:0.0	.	138	O15528	CP27B_HUMAN	C	138	ENSP00000228606:R138C	ENSP00000228606:R138C	R	-	1	0	CYP27B1	56445524	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.158000	0.77470	2.625000	0.88918	0.561000	0.74099	CGC		0.672	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409248.1	NM_000785		9	14	0	0	0	1	0	9	14				
UHRF1BP1L	23074	broad.mit.edu	37	12	100452768	100452768	+	Silent	SNP	A	A	G			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr12:100452768A>G	ENST00000279907.7	-	14	2499	c.2287T>C	c.(2287-2289)Ttg>Ctg	p.L763L	UHRF1BP1L_ENST00000545232.2_Silent_p.L413L	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	763										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TTCCGCTTCAATCGGCCAGCC	0.408																																						ENST00000279907.7																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						c.(2287-2289)Ttg>Ctg		UHRF1 binding protein 1-like							93.0	99.0	97.0					12																	100452768		2203	4300	6503	SO:0001819	synonymous_variant	23074							g.chr12:100452768A>G		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.2287T>C	12.37:g.100452768A>G						UHRF1BP1L_ENST00000545232.2_Silent_p.L413L	p.L763L	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN			14	2499	-			763					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Silent	SNP	ENST00000279907.7	37	c.2287T>C	CCDS31882.1																																																																																				0.408	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		49	127	0	0	0	1	0	49	127				
KCNJ10	3766	broad.mit.edu	37	1	160011538	160011538	+	Missense_Mutation	SNP	G	G	A	rs541734962		TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr1:160011538G>A	ENST00000368089.3	-	2	1011	c.785C>T	c.(784-786)aCc>aTc	p.T262I	KCNJ10_ENST00000509700.1_Intron	NM_002241.4	NP_002232.2	P78508	KCJ10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	262					adult walking behavior (GO:0007628)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|membrane hyperpolarization (GO:0060081)|optic nerve development (GO:0021554)|potassium ion homeostasis (GO:0055075)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of resting membrane potential (GO:0060075)|regulation of sensory perception of pain (GO:0051930)|response to blue light (GO:0009637)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)		Yohimbine(DB01392)	CAAGGGACTGGTCTCATCTAC	0.522																																					GBM(167;1368 2014 14817 36425 43215)	ENST00000368089.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17						c.(784-786)aCc>aTc		potassium inwardly-rectifying channel, subfamily J, member 10							116.0	115.0	115.0					1																	160011538		2203	4300	6503	SO:0001583	missense	3766					integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity	g.chr1:160011538G>A	U52155	CCDS1193.1	1q23.2	2011-07-05			ENSG00000177807	ENSG00000177807		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6256	protein-coding gene	gene with protein product		602208				9367690, 8995301, 16382105	Standard	NM_002241		Approved	Kir4.1, Kir1.2	uc001fuw.2	P78508	OTTHUMG00000024073	ENST00000368089.3:c.785C>T	1.37:g.160011538G>A	ENSP00000357068:p.Thr262Ile					KCNJ10_ENST00000509700.1_Intron	p.T262I	NM_002241.4	NP_002232.2	P78508	IRK10_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	1011	-	all_hematologic(112;0.093)		262					A3KME7|Q5VUT9|Q8N4I7|Q92808	Missense_Mutation	SNP	ENST00000368089.3	37	c.785C>T	CCDS1193.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.134815	0.37728	.	.	ENSG00000177807	ENST00000368089	D	0.91945	-2.94	5.3	4.36	0.52297	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.290238	0.37715	N	0.001969	D	0.83261	0.5216	L	0.41492	1.28	0.36603	D	0.874779	B	0.31625	0.332	B	0.33042	0.157	D	0.83578	0.0116	10	0.51188	T	0.08	.	12.8551	0.57880	0.0:0.0:0.8358:0.1641	.	262	P78508	IRK10_HUMAN	I	262	ENSP00000357068:T262I	ENSP00000357068:T262I	T	-	2	0	KCNJ10	158278162	0.088000	0.21588	1.000000	0.80357	0.974000	0.67602	0.371000	0.20450	1.424000	0.47217	0.655000	0.94253	ACC		0.522	KCNJ10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060629.1	NM_002241		5	111	0	0	0	1	0	5	111				
ARHGAP33	115703	broad.mit.edu	37	19	36275140	36275140	+	Silent	SNP	G	G	A			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr19:36275140G>A	ENST00000007510.4	+	16	1632	c.1488G>A	c.(1486-1488)tcG>tcA	p.S496S	ARHGAP33_ENST00000314737.5_Silent_p.S496S|ARHGAP33_ENST00000378944.5_Silent_p.S360S			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	496	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						GGGTGCAGTCGGTGGTGGTGG	0.672																																						ENST00000007510.4																			0				endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(1486-1488)tcG>tcA		Rho GTPase activating protein 33							277.0	223.0	241.0					19																	36275140		2203	4300	6503	SO:0001819	synonymous_variant	115703				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	g.chr19:36275140G>A	AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.1488G>A	19.37:g.36275140G>A						ARHGAP33_ENST00000378944.5_Silent_p.S360S|ARHGAP33_ENST00000314737.5_Silent_p.S496S	p.S496S			O14559	RHG33_HUMAN			16	1632	+			496			Rho-GAP.		O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Silent	SNP	ENST00000007510.4	37	c.1488G>A																																																																																					0.672	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948		55	109	0	0	0	1	0	55	109				
TEX15	56154	broad.mit.edu	37	8	30694423	30694423	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr8:30694423C>T	ENST00000256246.2	-	3	8302	c.8228G>A	c.(8227-8229)cGg>cAg	p.R2743Q		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2743					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AATTGGCTGCCGAAAATTAGA	0.408																																						ENST00000256246.2																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(8227-8229)cGg>cAg		testis expressed 15							102.0	107.0	105.0					8																	30694423		2203	4300	6503	SO:0001583	missense	56154							g.chr8:30694423C>T	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.8228G>A	8.37:g.30694423C>T	ENSP00000256246:p.Arg2743Gln						p.R2743Q	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	3	8302	-			2743						Missense_Mutation	SNP	ENST00000256246.2	37	c.8228G>A	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	c	0.171	-1.071451	0.01918	.	.	ENSG00000133863	ENST00000256246	T	0.08193	3.12	5.44	1.38	0.22167	.	0.296985	0.24576	N	0.037354	T	0.02610	0.0079	N	0.01168	-0.975	0.19775	N	0.999953	B	0.02656	0.0	B	0.01281	0.0	T	0.40478	-0.9561	10	0.87932	D	0	.	6.1762	0.20444	0.0:0.0852:0.3031:0.6117	.	2743	Q9BXT5	TEX15_HUMAN	Q	2743	ENSP00000256246:R2743Q	ENSP00000256246:R2743Q	R	-	2	0	TEX15	30813965	1.000000	0.71417	1.000000	0.80357	0.180000	0.23129	1.064000	0.30579	0.414000	0.25790	-0.295000	0.09555	CGG		0.408	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			6	138	0	0	0	1	0	6	138				
IL17RC	84818	broad.mit.edu	37	3	9962224	9962224	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr3:9962224G>A	ENST00000295981.3	+	6	946	c.728G>A	c.(727-729)cGa>cAa	p.R243Q	RNU6-882P_ENST00000391025.1_RNA|IL17RC_ENST00000413608.1_Missense_Mutation_p.R172Q|IL17RC_ENST00000383812.4_Missense_Mutation_p.R172Q|IL17RC_ENST00000416074.2_Missense_Mutation_p.R43Q|IL17RC_ENST00000455057.1_Missense_Mutation_p.R172Q|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000403601.3_Missense_Mutation_p.R172Q	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	243					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						AGTGAGGTACGAATCTGGTCC	0.592																																						ENST00000295981.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(727-729)cGa>cAa		interleukin 17 receptor C							79.0	65.0	70.0					3																	9962224		2203	4298	6501	SO:0001583	missense	84818					integral to membrane|plasma membrane	receptor activity	g.chr3:9962224G>A	BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"""Interleukins and interleukin receptors"""	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.728G>A	3.37:g.9962224G>A	ENSP00000295981:p.Arg243Gln					IL17RC_ENST00000403601.3_Missense_Mutation_p.R172Q|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000455057.1_Missense_Mutation_p.R172Q|IL17RC_ENST00000383812.4_Missense_Mutation_p.R172Q|IL17RC_ENST00000413608.1_Missense_Mutation_p.R172Q|IL17RC_ENST00000416074.2_Missense_Mutation_p.R43Q	p.R243Q	NM_153461.3	NP_703191.1	Q8NAC3	I17RC_HUMAN			6	946	+			243					E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Missense_Mutation	SNP	ENST00000295981.3	37	c.728G>A	CCDS2590.1	.	.	.	.	.	.	.	.	.	.	G	6.775	0.511914	0.12944	.	.	ENSG00000163702	ENST00000383812;ENST00000438091;ENST00000295981;ENST00000436503;ENST00000403601;ENST00000416074;ENST00000455057;ENST00000413608	T;T;T;T;T;T;T;T	0.13538	2.58;2.58;2.58;2.58;2.58;2.58;2.58;2.58	5.5	-4.92	0.03075	.	1.302160	0.05310	N	0.524692	T	0.07908	0.0198	N	0.10874	0.06	0.09310	N	1	B;B;B;B;B;B;B;B;B	0.17465	0.012;0.021;0.003;0.003;0.022;0.022;0.005;0.008;0.021	B;B;B;B;B;B;B;B;B	0.14578	0.005;0.004;0.001;0.001;0.003;0.003;0.003;0.001;0.011	T	0.36237	-0.9756	10	0.28530	T	0.3	0.2378	13.3705	0.60711	0.6826:0.0:0.3174:0.0	.	172;43;172;172;172;172;172;243;172	Q8NAC3-4;F5H4Z2;E9PHG1;A8BWD5;E9PHJ6;A8BWC9;Q8NAC3-3;Q8NAC3;Q8NAC3-2	.;.;.;.;.;.;.;I17RC_HUMAN;.	Q	172;147;243;147;172;43;172;172	ENSP00000373323:R172Q;ENSP00000414609:R147Q;ENSP00000295981:R243Q;ENSP00000401128:R147Q;ENSP00000384969:R172Q;ENSP00000395315:R43Q;ENSP00000407894:R172Q;ENSP00000396064:R172Q	ENSP00000295981:R243Q	R	+	2	0	IL17RC	9937224	0.009000	0.17119	0.002000	0.10522	0.419000	0.31324	-0.765000	0.04730	-1.458000	0.01916	-0.244000	0.11960	CGA		0.592	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250526.2	NM_032732		6	28	0	0	0	1	0	6	28				
POTEC	388468	broad.mit.edu	37	18	14542963	14542963	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr18:14542963C>T	ENST00000358970.5	-	1	182	c.183G>A	c.(181-183)atG>atA	p.M61I	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	61										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AACACTTGCCCATCTTGCTCC	0.577																																						ENST00000358970.5																			0				NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(181-183)atG>atA		POTE ankyrin domain family, member C							67.0	74.0	72.0					18																	14542963		692	1591	2283	SO:0001583	missense	388468							g.chr18:14542963C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.183G>A	18.37:g.14542963C>T	ENSP00000351856:p.Met61Ile					POTEC_ENST00000389891.4_5'UTR	p.M61I	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			1	182	-			61						Missense_Mutation	SNP	ENST00000358970.5	37	c.183G>A	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.616678	0.28801	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	T	0.31510	1.49	0.448	0.448	0.16614	.	.	.	.	.	T	0.33381	0.0861	L	0.46157	1.445	0.09310	N	1	P	0.41159	0.74	P	0.48425	0.577	T	0.22695	-1.0209	8	0.66056	D	0.02	.	.	.	.	.	61	B2RU33	POTEC_HUMAN	I	61	ENSP00000351856:M61I	ENSP00000351856:M61I	M	-	3	0	POTEC	14532963	0.009000	0.17119	0.006000	0.13384	0.029000	0.11900	-0.070000	0.11523	0.479000	0.27511	0.186000	0.17326	ATG		0.577	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		36	316	0	0	0	1	0	36	316				
AKAP12	9590	broad.mit.edu	37	6	151672836	151672836	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr6:151672836G>C	ENST00000253332.1	+	3	3499	c.3310G>C	c.(3310-3312)Gag>Cag	p.E1104Q	AKAP12_ENST00000354675.6_Missense_Mutation_p.E1006Q|AKAP12_ENST00000359755.5_Missense_Mutation_p.E999Q|AKAP12_ENST00000402676.2_Missense_Mutation_p.E1104Q			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1104					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GGCAAAAACTGAGCCTTTTAC	0.502																																					Melanoma(141;1616 1805 10049 24534 51979)	ENST00000402676.2																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68						c.(3310-3312)Gag>Cag		A kinase (PRKA) anchor protein 12							46.0	47.0	47.0					6																	151672836		2203	4300	6503	SO:0001583	missense	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151672836G>C	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.3310G>C	6.37:g.151672836G>C	ENSP00000253332:p.Glu1104Gln					AKAP12_ENST00000359755.5_Missense_Mutation_p.E999Q|AKAP12_ENST00000253332.1_Missense_Mutation_p.E1104Q|AKAP12_ENST00000354675.6_Missense_Mutation_p.E1006Q	p.E1104Q	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	3550	+		Ovarian(120;0.125)	1104					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	c.3310G>C	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.302634	0.60195	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.08807	3.05;3.05;3.07;3.07	5.06	5.06	0.68205	.	0.229628	0.22993	N	0.053165	T	0.07188	0.0182	L	0.36672	1.1	0.09310	N	0.999994	D;D;D	0.63880	0.993;0.993;0.988	P;P;P	0.57776	0.827;0.827;0.676	T	0.16512	-1.0400	10	0.45353	T	0.12	.	10.1311	0.42680	0.129:0.0:0.8709:0.0	.	999;1006;1104	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	Q	1104;1104;1006;999	ENSP00000384537:E1104Q;ENSP00000253332:E1104Q;ENSP00000346702:E1006Q;ENSP00000352794:E999Q	ENSP00000253332:E1104Q	E	+	1	0	AKAP12	151714529	0.015000	0.18098	0.015000	0.15790	0.029000	0.11900	1.649000	0.37281	2.356000	0.79943	0.455000	0.32223	GAG		0.502	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			3	51	0	0	0	1	0	3	51				
LRFN3	79414	broad.mit.edu	37	19	36431457	36431457	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr19:36431457C>G	ENST00000588831.1	+	3	2184	c.1130C>G	c.(1129-1131)gCt>gGt	p.A377G	LRFN3_ENST00000246529.3_Missense_Mutation_p.A377G			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	377	Ig-like.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GAGGCCACAGCTGCTGTGGAG	0.662																																						ENST00000588831.1																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(1129-1131)gCt>gGt		leucine rich repeat and fibronectin type III domain containing 3							31.0	28.0	29.0					19																	36431457		2203	4299	6502	SO:0001583	missense	79414				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane		g.chr19:36431457C>G	BC003578	CCDS12483.1	19q13.13	2013-02-11				ENSG00000126243		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28370	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 1"""	612809				12975309, 16495444, 16828986	Standard	NM_024509		Approved	MGC2656, SALM4, FIGLER1	uc002oco.3	Q9BTN0		ENST00000588831.1:c.1130C>G	19.37:g.36431457C>G	ENSP00000466989:p.Ala377Gly					LRFN3_ENST00000246529.3_Missense_Mutation_p.A377G	p.A377G			Q9BTN0	LRFN3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		3	2184	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		377			Ig-like.		Q6UY10	Missense_Mutation	SNP	ENST00000588831.1	37	c.1130C>G	CCDS12483.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.767718	0.69878	.	.	ENSG00000126243	ENST00000246529	T	0.69806	-0.43	5.01	5.01	0.66863	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.36234	N	0.002701	T	0.73513	0.3596	M	0.67700	2.07	0.51482	D	0.999929	B	0.28584	0.216	B	0.42771	0.397	T	0.73414	-0.3990	10	0.45353	T	0.12	.	15.791	0.78364	0.0:1.0:0.0:0.0	.	377	Q9BTN0	LRFN3_HUMAN	G	377	ENSP00000246529:A377G	ENSP00000246529:A377G	A	+	2	0	LRFN3	41123297	0.992000	0.36948	0.930000	0.37139	0.940000	0.58332	3.187000	0.50950	2.320000	0.78422	0.591000	0.81541	GCT		0.662	LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457403.2	NM_024509		8	29	0	0	0	1	0	8	29				
MYBPC1	4604	broad.mit.edu	37	12	102072013	102072013	+	Silent	SNP	T	T	A			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr12:102072013T>A	ENST00000550270.1	+	27	3222	c.3222T>A	c.(3220-3222)ccT>ccA	p.P1074P	MYBPC1_ENST00000547509.1_Silent_p.P1042P|MYBPC1_ENST00000361466.2_Silent_p.P1081P|MYBPC1_ENST00000541119.1_Silent_p.P1044P|MYBPC1_ENST00000551300.1_Silent_p.P957P|MYBPC1_ENST00000553190.1_Silent_p.P1056P|MYBPC1_ENST00000392934.3_Silent_p.P1043P|MYBPC1_ENST00000452455.2_Silent_p.P1074P|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000549145.1_Silent_p.P1087P|MYBPC1_ENST00000441232.1_Silent_p.P1074P|MYBPC1_ENST00000545503.2_Silent_p.P1056P|MYBPC1_ENST00000360610.2_Silent_p.P1074P|MYBPC1_ENST00000361685.2_Silent_p.P1081P|MYBPC1_ENST00000536007.1_Silent_p.P1037P|MYBPC1_ENST00000547405.1_Silent_p.P1030P			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	1074	Ig-like C2-type 7.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						GAGGAAATCCTAAGGTACCAT	0.398																																						ENST00000549145.1																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						c.(3259-3261)ccT>ccA		myosin binding protein C, slow type							189.0	163.0	172.0					12																	102072013		2203	4300	6503	SO:0001819	synonymous_variant	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102072013T>A		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.3222T>A	12.37:g.102072013T>A						MYBPC1_ENST00000547509.1_Silent_p.P1042P|MYBPC1_ENST00000361685.2_Silent_p.P1081P|MYBPC1_ENST00000553190.1_Silent_p.P1056P|MYBPC1_ENST00000551300.1_Silent_p.P957P|MYBPC1_ENST00000550270.1_Silent_p.P1074P|MYBPC1_ENST00000360610.2_Silent_p.P1074P|MYBPC1_ENST00000547405.1_Silent_p.P1030P|MYBPC1_ENST00000545503.2_Silent_p.P1056P|MYBPC1_ENST00000541119.1_Silent_p.P1044P|MYBPC1_ENST00000536007.1_Silent_p.P1037P|MYBPC1_ENST00000452455.2_Silent_p.P1074P|MYBPC1_ENST00000441232.1_Silent_p.P1074P|MYBPC1_ENST00000392934.3_Silent_p.P1043P|MYBPC1_ENST00000361466.2_Silent_p.P1081P|MYBPC1_ENST00000550501.1_Intron	p.P1087P			Q00872	MYPC1_HUMAN			28	3361	+			1074			Ig-like C2-type 7.		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Silent	SNP	ENST00000550270.1	37	c.3261T>A	CCDS9085.1																																																																																				0.398	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			53	124	0	0	0	1	0	53	124				
SLMO2	51012	broad.mit.edu	37	20	57613539	57613539	+	Silent	SNP	C	C	T			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr20:57613539C>T	ENST00000355937.4	-	2	361	c.183G>A	c.(181-183)ctG>ctA	p.L61L	SLMO2_ENST00000371033.5_Silent_p.L61L	NM_016045.2	NP_057129.2	Q9Y3B1	SLMO2_HUMAN	slowmo homolog 2 (Drosophila)	61	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.				phospholipid transport (GO:0015914)	mitochondrial intermembrane space (GO:0005758)	phosphatidic acid transporter activity (GO:1990050)			endometrium(1)|lung(2)|skin(2)	5	all_lung(29;0.00711)		Colorectal(105;0.109)			CAATGGAAGGCAGTCCCCACT	0.443																																						ENST00000355937.4																			0				endometrium(1)|lung(2)|skin(2)	5						c.(181-183)ctG>ctA		slowmo homolog 2 (Drosophila)							89.0	86.0	87.0					20																	57613539		1899	4125	6024	SO:0001819	synonymous_variant	51012							g.chr20:57613539C>T	AF151865	CCDS42893.1, CCDS58783.1	20q13.32	2008-10-22	2007-02-06	2007-02-06	ENSG00000101166	ENSG00000101166			15892	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 45"""	C20orf45			Standard	NM_016045		Approved	dJ543J19.5, PRELID3B	uc002yam.3	Q9Y3B1	OTTHUMG00000032856	ENST00000355937.4:c.183G>A	20.37:g.57613539C>T						SLMO2_ENST00000371033.5_Silent_p.L61L	p.L61L	NM_016045.2	NP_057129.2	Q9Y3B1	SLMO2_HUMAN	Colorectal(105;0.109)		2	361	-	all_lung(29;0.00711)		61			PRELI/MSF1.		E1P5I8|Q5JX17|Q9NUL0	Silent	SNP	ENST00000355937.4	37	c.183G>A	CCDS42893.1																																																																																				0.443	SLMO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079897.2	NM_016045		5	121	0	0	0	1	0	5	121				
NSA2	10412	broad.mit.edu	37	5	74069862	74069862	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr5:74069862C>T	ENST00000296802.5	+	5	1061	c.692C>T	c.(691-693)aCa>aTa	p.T231I		NM_014886.3	NP_055701.1	O95478	NSA2_HUMAN	NSA2 ribosome biogenesis homolog (S. cerevisiae)	231					rRNA processing (GO:0006364)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1)	7						GGCCTTGTGACACAAGGAGGC	0.383																																						ENST00000296802.5																			0				breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1)	7						c.(691-693)aCa>aTa		NSA2 ribosome biogenesis homolog (S. cerevisiae)							99.0	94.0	96.0					5																	74069862		2203	4300	6503	SO:0001583	missense	10412				rRNA processing	nucleolus|ribonucleoprotein complex		g.chr5:74069862C>T	AF077615	CCDS4025.1, CCDS75260.1	5q13.3	2010-01-18			ENSG00000164346	ENSG00000164346			30728	protein-coding gene	gene with protein product	"""hairy cell leukemia protein 1"", ""TGF beta-inducible nuclear protein 1"""	612497				11124703, 10486207	Standard	NM_014886		Approved	HUSSY-29, HCLG1, FLJ94393, TINP1	uc003kdk.2	O95478	OTTHUMG00000131273	ENST00000296802.5:c.692C>T	5.37:g.74069862C>T	ENSP00000296802:p.Thr231Ile						p.T231I	NM_014886.3	NP_055701.1	O95478	NSA2_HUMAN			5	1061	+			231						Missense_Mutation	SNP	ENST00000296802.5	37	c.692C>T	CCDS4025.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183491	0.78677	.	.	ENSG00000164346	ENST00000296802	T	0.52526	0.66	5.32	5.32	0.75619	.	0.044878	0.85682	D	0.000000	T	0.77336	0.4115	M	0.93241	3.395	0.80722	D	1	D	0.76494	0.999	D	0.68943	0.961	D	0.83584	0.0119	10	0.87932	D	0	.	19.3811	0.94536	0.0:1.0:0.0:0.0	.	231	O95478	NSA2_HUMAN	I	231	ENSP00000296802:T231I	ENSP00000296802:T231I	T	+	2	0	NSA2	74105618	1.000000	0.71417	0.998000	0.56505	0.580000	0.36256	7.388000	0.79795	2.645000	0.89757	0.650000	0.86243	ACA		0.383	NSA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254041.3	NM_014886		10	148	0	0	0	1	0	10	148				
MOCOS	55034	broad.mit.edu	37	18	33840082	33840082	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr18:33840082A>G	ENST00000261326.5	+	13	2374	c.2353A>G	c.(2353-2355)Agg>Ggg	p.R785G	MOCOS_ENST00000588132.1_3'UTR	NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase											breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CAATGGAAAAAGGGCTTTTGA	0.393																																						ENST00000261326.5																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2353-2355)Agg>Ggg		molybdenum cofactor sulfurase	Pyridoxal Phosphate(DB00114)						191.0	189.0	190.0					18																	33840082		2203	4300	6503	SO:0001583	missense	55034				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding	g.chr18:33840082A>G	AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.2353A>G	18.37:g.33840082A>G	ENSP00000261326:p.Arg785Gly					MOCOS_ENST00000588132.1_3'UTR	p.R785G	NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN			13	2374	+			785			MOSC.			Missense_Mutation	SNP	ENST00000261326.5	37	c.2353A>G	CCDS11919.1	.	.	.	.	.	.	.	.	.	.	A	11.82	1.751723	0.31046	.	.	ENSG00000075643	ENST00000261326	T	0.37058	1.22	5.75	1.93	0.25924	Pyruvate kinase-like, insert domain (1);Molybdenum cofactor sulfurase, C-terminal (2);	0.406106	0.30649	N	0.009161	T	0.23611	0.0571	L	0.41710	1.295	0.09310	N	1	B	0.09022	0.002	B	0.16722	0.016	T	0.09729	-1.0661	10	0.29301	T	0.29	-6.3124	4.4459	0.11597	0.6578:0.1684:0.1738:0.0	.	785	Q96EN8	MOCOS_HUMAN	G	785	ENSP00000261326:R785G	ENSP00000261326:R785G	R	+	1	2	MOCOS	32094080	0.007000	0.16637	0.496000	0.27539	0.860000	0.49131	1.439000	0.35013	0.996000	0.38943	0.460000	0.39030	AGG		0.393	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255801.1			3	158	0	0	0	1	0	3	158				
FRG1B	284802	broad.mit.edu	37	20	29633900	29633900	+	Missense_Mutation	SNP	A	A	G	rs60081496		TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr20:29633900A>G	ENST00000278882.3	+	9	919	c.539A>G	c.(538-540)gAa>gGa	p.E180G	FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	180								p.E180G(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAAACAAGAGAACCAAATTGA	0.264																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.E180G(2)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(538-540)gAa>gGa																																						SO:0001583	missense	0							g.chr20:29633900A>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.539A>G	20.37:g.29633900A>G	ENSP00000278882:p.Glu180Gly					FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G	p.E180G							9	919	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.539A>G		.	.	.	.	.	.	.	.	.	.	a	9.128	1.010735	0.19277	.	.	ENSG00000149531	ENST00000278882;ENST00000358464	.	.	.	1.62	1.62	0.23740	.	.	.	.	.	T	0.41351	0.1155	.	.	.	0.21697	N	0.999586	.	.	.	.	.	.	T	0.36625	-0.9740	5	0.87932	D	0	.	7.2988	0.26408	1.0:0.0:0.0:0.0	rs60081496	.	.	.	G	180	.	ENSP00000278882:E180G	E	+	2	0	FRG1B	28247561	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	4.560000	0.60802	0.995000	0.38917	0.411000	0.27672	GAA		0.264	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		3	69	0	0	0	1	0	3	69				
PLCZ1	89869	broad.mit.edu	37	12	18872504	18872504	+	Missense_Mutation	SNP	G	G	C	rs140550681		TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr12:18872504G>C	ENST00000266505.7	-	5	693	c.430C>G	c.(430-432)Cta>Gta	p.L144V	PLCZ1_ENST00000447925.2_Missense_Mutation_p.L142V|PLCZ1_ENST00000435379.1_Intron|PLCZ1_ENST00000541695.1_Missense_Mutation_p.L7V|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000539875.1_Intron					phospholipase C, zeta 1											NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TTAAACAGTAGACATTCACGT	0.264																																						ENST00000447925.2																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31						c.(424-426)Cta>Gta		phospholipase C, zeta 1							52.0	53.0	52.0					12																	18872504		2202	4282	6484	SO:0001583	missense	89869				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr12:18872504G>C	AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"""EF-hand domain containing"""	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000266505.7:c.430C>G	12.37:g.18872504G>C	ENSP00000266505:p.Leu144Val					PLCZ1_ENST00000541695.1_Missense_Mutation_p.L7V|PLCZ1_ENST00000435379.1_Intron|PLCZ1_ENST00000539875.1_Intron|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000266505.7_Missense_Mutation_p.L144V	p.L142V	NM_033123.2	NP_149114.2	Q86YW0	PLCZ1_HUMAN			5	693	-	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)		144						Missense_Mutation	SNP	ENST00000266505.7	37	c.424C>G	CCDS8680.1	.	.	.	.	.	.	.	.	.	.	G	2.456	-0.325151	0.05350	.	.	ENSG00000139151	ENST00000266505;ENST00000447925;ENST00000541695;ENST00000541966	T;T;T;T	0.27402	2.3;2.3;1.67;2.3	5.28	4.3	0.51218	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.563717	0.18609	N	0.136210	T	0.28732	0.0712	M	0.76574	2.34	0.09310	N	1	P	0.41498	0.752	B	0.42462	0.388	T	0.25082	-1.0142	10	0.17832	T	0.49	.	0.2114	0.00156	0.2431:0.2396:0.2746:0.2427	.	144	Q86YW0	PLCZ1_HUMAN	V	144;142;7;40	ENSP00000266505:L144V;ENSP00000402358:L142V;ENSP00000443349:L7V;ENSP00000444383:L40V	ENSP00000266505:L144V	L	-	1	2	PLCZ1	18763771	0.002000	0.14202	0.501000	0.27601	0.073000	0.16967	0.722000	0.25925	1.131000	0.42111	0.591000	0.81541	CTA		0.264	PLCZ1-001	KNOWN	NAGNAG_splice_site|non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401667.3	NM_033123		16	40	0	0	0	1	0	16	40				
POTEM	641455	broad.mit.edu	37	14	20019998	20019998	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr14:20019998T>C	ENST00000551509.1	-	1	274	c.223A>G	c.(223-225)Agc>Ggc	p.S75G		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	75										endometrium(4)|kidney(1)|lung(4)	9						CTCTTGCCGCTCCCCCTGCAC	0.587																																						ENST00000551509.1																			0				endometrium(4)|kidney(1)|lung(4)	9						c.(223-225)Agc>Ggc		POTE ankyrin domain family, member M							11.0	21.0	19.0					14																	20019998		316	1135	1451	SO:0001583	missense	641455							g.chr14:20019998T>C		CCDS73609.1	14q11.2	2013-01-10			ENSG00000187537	ENSG00000187537		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37096	protein-coding gene	gene with protein product	"""prostate-specific P704P"""					16364570	Standard	NM_001145442		Approved	POTE14beta, P704P, ACT	uc001vwc.3	A6NI47		ENST00000551509.1:c.223A>G	14.37:g.20019998T>C	ENSP00000452296:p.Ser75Gly						p.S75G	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN			1	274	-			75						Missense_Mutation	SNP	ENST00000551509.1	37	c.223A>G	CCDS45076.1	.	.	.	.	.	.	.	.	.	.	t	3.158	-0.172651	0.06421	.	.	ENSG00000187537	ENST00000551509;ENST00000439503;ENST00000344684	T	0.33438	1.41	.	.	.	.	.	.	.	.	T	0.25606	0.0623	L	0.61218	1.895	0.09310	N	1	B	0.27791	0.189	B	0.29785	0.107	T	0.28459	-1.0043	6	.	.	.	.	.	.	.	.	75	A6NI47	POTEM_HUMAN	G	75	ENSP00000452296:S75G	.	S	-	1	0	POTEM	19089998	0.001000	0.12720	0.005000	0.12908	0.137000	0.21094	0.985000	0.29578	-0.760000	0.04677	0.128000	0.15822	AGC		0.587	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409490.3	NM_001145442		5	382	0	0	0	1	0	5	382				
TUBBP1	92755	broad.mit.edu	37	8	30210383	30210383	+	RNA	SNP	C	C	T	rs370978820		TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr8:30210383C>T	ENST00000518096.1	+	0	995									tubulin, beta pseudogene 1																		CTCACAGTGCCGGAACTCACC	0.597																																						ENST00000518096.1																			0																																																			0							g.chr8:30210383C>T	J00317		8p12	2012-10-16	2005-11-15		ENSG00000127589	ENSG00000127589			12414	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 1"""			7070533	Standard	NG_001206		Approved				OTTHUMG00000163834		8.37:g.30210383C>T														0	995	+									RNA	SNP	ENST00000518096.1	37																																																																																						0.597	TUBBP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375880.1	NG_001206		10	118	0	0	0	1	0	10	118				
BCRP7	100133163	broad.mit.edu	37	22	18846025	18846025	+	3'UTR	SNP	G	G	C	rs5993363		TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr22:18846025G>C	ENST00000412938.1	+	0	3383																											GACGTTGAAGGCTGCCTTCAG	0.647																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18846025G>C																												ENST00000412938.1:c.*3380G>C	22.37:g.18846025G>C														0	3383	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.647	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			3	111	0	0	0	1	0	3	111				
TYK2	7297	broad.mit.edu	37	19	10468472	10468472	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr19:10468472C>A	ENST00000525621.1	-	17	2915	c.2434G>T	c.(2434-2436)Gag>Tag	p.E812*	TYK2_ENST00000529370.1_Nonsense_Mutation_p.E812*|TYK2_ENST00000264818.6_Nonsense_Mutation_p.E812*|TYK2_ENST00000524462.1_Nonsense_Mutation_p.E627*	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	812	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			AGAGGGGCCTCTCCGTCAAAG	0.642																																						ENST00000525621.1																			0				breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(2434-2436)Gag>Tag		tyrosine kinase 2							29.0	28.0	28.0					19																	10468472		2202	4300	6502	SO:0001587	stop_gained	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10468472C>A		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.2434G>T	19.37:g.10468472C>A	ENSP00000431885:p.Glu812*					TYK2_ENST00000264818.6_Nonsense_Mutation_p.E812*|TYK2_ENST00000524462.1_Nonsense_Mutation_p.E627*|TYK2_ENST00000529370.1_Nonsense_Mutation_p.E812*	p.E812*	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		17	2915	-			812			Protein kinase 1.		Q6QB10|Q96CH0	Nonsense_Mutation	SNP	ENST00000525621.1	37	c.2434G>T	CCDS12236.1	.	.	.	.	.	.	.	.	.	.	C	40	8.325824	0.98762	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792;ENST00000529370	.	.	.	4.86	4.86	0.63082	.	0.000000	0.51477	D	0.000085	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-25.1044	15.5125	0.75795	0.0:1.0:0.0:0.0	.	.	.	.	X	627;812;812;559;812	.	ENSP00000264818:E812X	E	-	1	0	TYK2	10329472	1.000000	0.71417	0.944000	0.38274	0.026000	0.11368	5.521000	0.67086	2.521000	0.84997	0.655000	0.94253	GAG		0.642	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			10	21	1	0	0.000978159	1	0.00102474	10	21				
DENND3	22898	broad.mit.edu	37	8	142178473	142178473	+	Silent	SNP	G	G	A	rs201413933		TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr8:142178473G>A	ENST00000262585.2	+	13	2162	c.1884G>A	c.(1882-1884)ccG>ccA	p.P628P	DENND3_ENST00000519811.1_Silent_p.P708P|DENND3_ENST00000424248.1_Silent_p.P576P	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	628					cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGACAAGCCGCACGAGGCCT	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		19138	0.001		0.0	False		,,,				2504	0.0					ENST00000519811.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55						c.(2122-2124)ccG>ccA		DENN/MADD domain containing 3		G		0,4406		0,0,2203	66.0	67.0	67.0		1884	-11.1	0.0	8		67	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DENND3	NM_014957.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		628/1199	142178473	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22898							g.chr8:142178473G>A	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.1884G>A	8.37:g.142178473G>A						DENND3_ENST00000262585.2_Silent_p.P628P|DENND3_ENST00000424248.1_Silent_p.P576P	p.P708P			A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		13	2194	+	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		628					B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Silent	SNP	ENST00000262585.2	37	c.2124G>A	CCDS34947.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0.628	-0.818414	0.02776	0.0	1.16E-4	ENSG00000105339	ENST00000518668	.	.	.	5.56	-11.1	0.00147	.	.	.	.	.	T	0.32164	0.0820	.	.	.	0.34995	D	0.755431	.	.	.	.	.	.	T	0.26744	-1.0094	4	.	.	.	-6.023	3.4795	0.07597	0.2045:0.317:0.3396:0.1389	.	.	.	.	T	633	.	.	A	+	1	0	DENND3	142247655	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.568000	0.05909	-1.958000	0.01019	0.462000	0.41574	GCA		0.612	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		30	50	0	0	0	1	0	30	50				
UGT2B28	54490	broad.mit.edu	37	4	70152481	70152481	+	Silent	SNP	A	A	G	rs141618560	byFrequency	TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr4:70152481A>G	ENST00000335568.5	+	3	884	c.882A>G	c.(880-882)gaA>gaG	p.E294E	UGT2B28_ENST00000511240.1_Silent_p.E294E	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	294					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.E294E(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						AAATGGAGGAATTTGTACAGA	0.393													a|||	49	0.00978435	0.0159	0.0043	5008	,	,		10804	0.004		0.005	False		,,,				2504	0.0164					ENST00000335568.5																			1	Substitution - coding silent(1)	p.E294E(1)	kidney(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(880-882)gaA>gaG		UDP glucuronosyltransferase 2 family, polypeptide B28	Flunitrazepam(DB01544)	G	,	12,4124		0,12,2056	125.0	143.0	138.0		882,882	-1.6	0.9	4	dbSNP_134	138	9,8499		0,9,4245	no	coding-synonymous,coding-synonymous	UGT2B28	NM_001207004.1,NM_053039.1	,	0,21,6301	GG,GA,AA		0.1058,0.2901,0.1661	,	294/336,294/530	70152481	21,12623	2068	4254	6322	SO:0001819	synonymous_variant	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70152481A>G	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.882A>G	4.37:g.70152481A>G						UGT2B28_ENST00000511240.1_Silent_p.E294E	p.E294E	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN			3	884	+			294					B5BUM0|Q9BY62|Q9BY63	Silent	SNP	ENST00000335568.5	37	c.882A>G	CCDS3528.1																																																																																				0.393	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		3	176	0	0	0	1	0	3	176				
SYNE2	23224	broad.mit.edu	37	14	64604565	64604565	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr14:64604565A>C	ENST00000344113.4	+	79	14919	c.14707A>C	c.(14707-14709)Aaa>Caa	p.K4903Q	SYNE2_ENST00000357395.3_Missense_Mutation_p.K1288Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.K1288Q|SYNE2_ENST00000554584.1_Missense_Mutation_p.K4820Q|SYNE2_ENST00000555002.1_Missense_Mutation_p.K1537Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.K4903Q	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4903					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAACGAAGGCAAACAGTTGGT	0.408																																						ENST00000357395.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(3862-3864)Aaa>Caa		spectrin repeat containing, nuclear envelope 2							99.0	92.0	94.0					14																	64604565		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64604565A>C	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.14707A>C	14.37:g.64604565A>C	ENSP00000341781:p.Lys4903Gln					SYNE2_ENST00000344113.4_Missense_Mutation_p.K4903Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.K4903Q|SYNE2_ENST00000554584.1_Missense_Mutation_p.K4820Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.K1288Q|SYNE2_ENST00000555002.1_Missense_Mutation_p.K1537Q	p.K1288Q			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	80	15006	+			4903					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.3862A>C	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	15.91	2.973678	0.53720	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48	5.87	5.87	0.94306	.	0.205334	0.33127	N	0.005259	T	0.48978	0.1530	M	0.72118	2.19	0.80722	D	1	P;P;D	0.58268	0.802;0.534;0.982	P;B;P	0.56042	0.511;0.238;0.79	T	0.41998	-0.9477	10	0.33141	T	0.24	.	16.2676	0.82597	1.0:0.0:0.0:0.0	.	1288;4903;4903	Q8WXH0-7;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	Q	4903;1288;4903;4820;4820;1537;1288	ENSP00000350719:K4903Q;ENSP00000349969:K1288Q;ENSP00000341781:K4903Q;ENSP00000452570:K4820Q;ENSP00000450831:K1537Q;ENSP00000378249:K1288Q	ENSP00000261678:K4820Q	K	+	1	0	SYNE2	63674318	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	8.596000	0.90844	2.243000	0.73865	0.533000	0.62120	AAA		0.408	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		28	74	0	0	0	1	0	28	74				
TRPV6	55503	broad.mit.edu	37	7	142572878	142572878	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr7:142572878C>A	ENST00000359396.3	-	9	1407	c.1162G>T	c.(1162-1164)Ggg>Tgg	p.G388W	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	388					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					ACCAGCTCCCCGACCAGCCGG	0.567																																						ENST00000359396.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42						c.(1162-1164)Ggg>Tgg		transient receptor potential cation channel, subfamily V, member 6							129.0	116.0	121.0					7																	142572878		2203	4300	6503	SO:0001583	missense	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142572878C>A	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.1162G>T	7.37:g.142572878C>A	ENSP00000352358:p.Gly388Trp						p.G388W	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN			9	1407	-	Melanoma(164;0.059)		388					A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	c.1162G>T	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891264	0.72524	.	.	ENSG00000165125	ENST00000359396;ENST00000311470;ENST00000436401	D;D	0.86562	-2.14;-2.14	4.74	4.74	0.60224	.	0.051806	0.85682	D	0.000000	D	0.94739	0.8302	M	0.92026	3.265	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95101	0.8230	10	0.52906	T	0.07	-33.3862	17.2508	0.87042	0.0:1.0:0.0:0.0	.	388	Q9H1D0	TRPV6_HUMAN	W	388;220;11	ENSP00000352358:G388W;ENSP00000411100:G11W	ENSP00000310825:G220W	G	-	1	0	TRPV6	142283000	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	7.191000	0.77763	2.634000	0.89283	0.561000	0.74099	GGG		0.567	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		3	129	1	0	1	1	1	3	129				
PGLYRP4	57115	broad.mit.edu	37	1	153314146	153314146	+	Silent	SNP	G	G	A	rs536231867		TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr1:153314146G>A	ENST00000359650.5	-	6	646	c.582C>T	c.(580-582)ggC>ggT	p.G194G	PGLYRP4_ENST00000368739.3_Silent_p.G190G	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	194					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCAGTTCTCGCCTTTCCCAA	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		18535	0.0		0.0	False		,,,				2504	0.001					ENST00000368739.3																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23						c.(568-570)ggC>ggT		peptidoglycan recognition protein 4							116.0	110.0	112.0					1																	153314146		2203	4300	6503	SO:0001819	synonymous_variant	57115				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr1:153314146G>A	AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218			30015	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I beta precursor"""	608198				11461926	Standard	XR_241090		Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000359650.5:c.582C>T	1.37:g.153314146G>A						PGLYRP4_ENST00000359650.5_Silent_p.G194G	p.G190G			Q96LB8	PGRP4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		6	928	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		194					A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Silent	SNP	ENST00000359650.5	37	c.570C>T	CCDS30871.1																																																																																				0.572	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	NM_020393		48	123	0	0	0	1	0	48	123				
EXOC1	55763	broad.mit.edu	37	4	56762964	56762964	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr4:56762964G>C	ENST00000381295.2	+	16	2383	c.2035G>C	c.(2035-2037)Gaa>Caa	p.E679Q	EXOC1_ENST00000349598.6_Missense_Mutation_p.E664Q|EXOC1_ENST00000346134.7_Missense_Mutation_p.E679Q	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	679					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					TGCTGAATTTGAAGAATTTGC	0.368																																						ENST00000381295.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35						c.(2035-2037)Gaa>Caa		exocyst complex component 1							77.0	75.0	76.0					4																	56762964		2203	4300	6503	SO:0001583	missense	55763				exocytosis|protein transport	exocyst	protein binding	g.chr4:56762964G>C	AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"""SEC3-like 1 (S. cerevisiae)"""	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.2035G>C	4.37:g.56762964G>C	ENSP00000370695:p.Glu679Gln					EXOC1_ENST00000349598.6_Missense_Mutation_p.E664Q|EXOC1_ENST00000346134.7_Missense_Mutation_p.E679Q	p.E679Q	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN			16	2383	+	Glioma(25;0.08)|all_neural(26;0.101)		679					Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	ENST00000381295.2	37	c.2035G>C	CCDS3502.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.966026	0.92855	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.83092	0.5179	M	0.79258	2.445	0.80722	D	1	D;P	0.89917	1.0;0.909	D;P	0.83275	0.996;0.688	T	0.82422	-0.0465	9	0.48119	T	0.1	.	20.0137	0.97470	0.0:0.0:1.0:0.0	.	664;679	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	Q	679;679;664	.	ENSP00000326514:E679Q	E	+	1	0	EXOC1	56457721	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.734000	0.93682	0.563000	0.77884	GAA		0.368	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261		3	63	0	0	0	1	0	3	63				
TSSK2	23617	broad.mit.edu	37	22	19119476	19119476	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr22:19119476G>C	ENST00000399635.2	+	1	1156	c.564G>C	c.(562-564)caG>caC	p.Q188H	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	188	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					AGGTGCTGCAGAGCATCCCCT	0.602																																						ENST00000399635.2																			0				endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11						c.(562-564)caG>caC		testis-specific serine kinase 2							85.0	87.0	86.0					22																	19119476		2203	4300	6503	SO:0001583	missense	23617				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:19119476G>C	AF362953	CCDS13755.1	22q11.21	2007-01-30	2005-03-10	2005-03-12	ENSG00000206203	ENSG00000206203			11401	protein-coding gene	gene with protein product		610710	"""serine/threonine kinase 22B (spermiogenesis associated)"""	STK22B		10591208	Standard	NM_053006		Approved	SPOGA2, FLJ38613	uc002zow.2	Q96PF2	OTTHUMG00000150118	ENST00000399635.2:c.564G>C	22.37:g.19119476G>C	ENSP00000382544:p.Gln188His					DGCR14_ENST00000252137.6_3'UTR	p.Q188H	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN			1	1156	+	Colorectal(54;0.0993)		188			Protein kinase.		Q8IY55	Missense_Mutation	SNP	ENST00000399635.2	37	c.564G>C	CCDS13755.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.795978	0.50208	.	.	ENSG00000206203	ENST00000399635	T	0.66815	-0.23	5.34	4.32	0.51571	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.47455	D	0.000231	T	0.68192	0.2974	L	0.31294	0.92	0.28323	N	0.922162	D	0.62365	0.991	D	0.69654	0.965	T	0.61978	-0.6951	10	0.72032	D	0.01	.	7.3191	0.26517	0.2568:0.0:0.7432:0.0	.	188	Q96PF2	TSSK2_HUMAN	H	188	ENSP00000382544:Q188H	ENSP00000382544:Q188H	Q	+	3	2	TSSK2	17499476	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.782000	0.26788	1.239000	0.43787	0.655000	0.94253	CAG		0.602	TSSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316431.1			34	96	0	0	0	1	0	34	96				
PDZD2	23037	broad.mit.edu	37	5	32089285	32089285	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr5:32089285A>G	ENST00000438447.1	+	20	6119	c.5731A>G	c.(5731-5733)Acg>Gcg	p.T1911A	PDZD2_ENST00000282493.3_Missense_Mutation_p.T1911A			O15018	PDZD2_HUMAN	PDZ domain containing 2	1911					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGCTGGGGGGACGGACCACAG	0.582																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(5731-5733)Acg>Gcg		PDZ domain containing 2							87.0	91.0	90.0					5																	32089285		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32089285A>G	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.5731A>G	5.37:g.32089285A>G	ENSP00000402033:p.Thr1911Ala					PDZD2_ENST00000282493.3_Missense_Mutation_p.T1911A	p.T1911A			O15018	PDZD2_HUMAN			20	6119	+			1911					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.5731A>G	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	A	11.93	1.786466	0.31593	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.06849	3.25;3.25	5.42	-10.8	0.00216	.	2.256200	0.01793	N	0.032409	T	0.04679	0.0127	L	0.33485	1.01	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31752	-0.9932	10	0.07990	T	0.79	.	6.2753	0.20977	0.1704:0.2236:0.5047:0.1013	.	1911	O15018	PDZD2_HUMAN	A	1911;1712;1911	ENSP00000402033:T1911A;ENSP00000282493:T1911A	ENSP00000282493:T1911A	T	+	1	0	PDZD2	32125042	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-2.385000	0.01062	-2.381000	0.00594	-0.331000	0.08364	ACG		0.582	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			4	99	0	0	0	1	0	4	99				
SSH2	85464	broad.mit.edu	37	17	27963805	27963805	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr17:27963805G>T	ENST00000269033.3	-	14	1513	c.1362C>A	c.(1360-1362)aaC>aaA	p.N454K	SSH2_ENST00000540801.1_Missense_Mutation_p.N481K|RP11-68I3.5_ENST00000581240.1_RNA|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	454					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCATAGTTTGTTATGCCGCT	0.448																																						ENST00000269033.3																		SSH2/SUZ12(2)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1360-1362)aaC>aaA		slingshot protein phosphatase 2							206.0	186.0	193.0					17																	27963805		2203	4300	6503	SO:0001583	missense	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27963805G>T	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.1362C>A	17.37:g.27963805G>T	ENSP00000269033:p.Asn454Lys					SSH2_ENST00000540801.1_Missense_Mutation_p.N481K|RP11-68I3.2_ENST00000581474.1_RNA	p.N454K	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN			14	1513	-			454					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	37	c.1362C>A	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.402368	0.62288	.	.	ENSG00000141298	ENST00000269033;ENST00000540801	T;T	0.43294	0.95;0.95	6.16	1.5	0.22942	.	0.000000	0.85682	D	0.000000	T	0.52224	0.1721	M	0.66939	2.045	0.80722	D	1	P;P	0.49307	0.843;0.922	P;P	0.53988	0.715;0.739	T	0.58064	-0.7702	10	0.87932	D	0	-21.5391	12.2589	0.54638	0.2651:0.0:0.7349:0.0	.	481;454	F5H527;Q76I76	.;SSH2_HUMAN	K	454;481	ENSP00000269033:N454K;ENSP00000444743:N481K	ENSP00000269033:N454K	N	-	3	2	SSH2	24987931	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.903000	0.39858	0.489000	0.27749	0.650000	0.86243	AAC		0.448	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		12	142	1	0	5.50884e-06	1	5.96038e-06	12	142				
POM121L9P	29774	broad.mit.edu	37	22	24659734	24659734	+	RNA	SNP	T	T	C			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr22:24659734T>C	ENST00000414583.2	+	0	3259					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		CTCTCTCCTGTGGGAGGGGGG	0.632																																						ENST00000414583.2																			0																																																			0							g.chr22:24659734T>C	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659734T>C								NR_003714.1						0	3259	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.632	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		3	18	0	0	0	1	0	3	18				
NIPBL	25836	broad.mit.edu	37	5	37017250	37017250	+	Missense_Mutation	SNP	C	C	G	rs149451089		TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr5:37017250C>G	ENST00000282516.8	+	24	5405	c.4906C>G	c.(4906-4908)Cgc>Ggc	p.R1636G	NIPBL_ENST00000448238.2_Missense_Mutation_p.R1636G	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1636					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ATCTATAGAACGCATTTTAAA	0.333																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(4906-4908)Cgc>Ggc		Nipped-B homolog (Drosophila)							51.0	50.0	50.0					5																	37017250		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37017250C>G	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.4906C>G	5.37:g.37017250C>G	ENSP00000282516:p.Arg1636Gly					NIPBL_ENST00000448238.2_Missense_Mutation_p.R1636G	p.R1636G	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		24	5405	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		1636					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.4906C>G	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.510051	0.64522	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	T;T	0.65178	-0.14;-0.14	5.45	2.59	0.31030	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70116	0.3187	M	0.71581	2.175	0.50632	D	0.999882	P;P	0.51147	0.903;0.942	P;P	0.54210	0.561;0.745	T	0.67465	-0.5664	10	0.25106	T	0.35	.	15.1455	0.72647	0.5027:0.4973:0.0:0.0	.	1636;1636	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	G	1636	ENSP00000282516:R1636G;ENSP00000406266:R1636G	ENSP00000282516:R1636G	R	+	1	0	NIPBL	37053007	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.809000	0.55606	0.309000	0.22966	0.585000	0.79938	CGC		0.333	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		8	34	0	0	0	1	0	8	34				
FAM120B	84498	broad.mit.edu	37	6	170667405	170667405	+	Splice_Site	SNP	A	A	T			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr6:170667405A>T	ENST00000476287.1	+	6	2390	c.2282A>T	c.(2281-2283)cAg>cTg	p.Q761L	FAM120B_ENST00000540480.1_Splice_Site_p.Q773L|FAM120B_ENST00000537664.1_Splice_Site_p.Q784L|FAM120B_ENST00000252510.9_Splice_Site_p.Q93L	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	761					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		GTAAATCTACAGGTACAGACG	0.493																																						ENST00000476287.1																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44						c.e6+1		family with sequence similarity 120B							70.0	54.0	59.0					6																	170667405		2203	4300	6503	SO:0001630	splice_region_variant	84498				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:170667405A>T	AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"""PPARgamma constitutive coactivator 1"", ""constitutive coactivator of PPAR-gamma"""	612266	"""KIAA1838"""	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.2283+1A>T	6.37:g.170667405A>T						FAM120B_ENST00000540480.1_Splice_Site_p.Q773_splice|FAM120B_ENST00000537664.1_Splice_Site_p.Q784_splice|FAM120B_ENST00000252510.9_Splice_Site_p.Q93_splice	p.Q761_splice	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)	6	2390	+		Breast(66;0.000338)|Esophageal squamous(34;0.241)	761					B4DL34|Q86V68|Q96JI9	Splice_Site	SNP	ENST00000476287.1	37	c.2283_splice	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	A	15.68	2.904566	0.52333	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287;ENST00000252510	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	4.35	4.35	0.52113	.	0.219510	0.40064	N	0.001181	T	0.46425	0.1392	M	0.74258	2.255	0.80722	D	1	D;D	0.64830	0.994;0.993	P;P	0.55824	0.785;0.599	T	0.54430	-0.8295	10	0.72032	D	0.01	-14.3639	11.3471	0.49567	1.0:0.0:0.0:0.0	.	761;761	Q96EK7;F2Z2E1	F120B_HUMAN;.	L	773;784;761;93	ENSP00000444125:Q773L;ENSP00000440125:Q784L;ENSP00000417970:Q761L;ENSP00000252510:Q93L	ENSP00000252510:Q93L	Q	+	2	0	FAM120B	170509330	1.000000	0.71417	0.955000	0.39395	0.087000	0.18053	4.734000	0.62043	1.737000	0.51674	0.533000	0.62120	CAG		0.493	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448	Missense_Mutation	5	17	0	0	0	1	0	5	17				
EPPK1	83481	broad.mit.edu	37	8	144940608	144940608	+	Missense_Mutation	SNP	C	C	T	rs377487212	byFrequency	TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr8:144940608C>T	ENST00000525985.1	-	2	6885	c.6814G>A	c.(6814-6816)Gtc>Atc	p.V2272I				P58107	EPIPL_HUMAN	epiplakin 1	2272						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)	p.V2272I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGTCGATGACGAAGCCGGTG	0.716													C|||	3	0.000599042	0.0015	0.0014	5008	,	,		65703	0.0		0.0	False		,,,				2504	0.0					ENST00000525985.1																			1	Substitution - Missense(1)	p.V2272I(1)	central_nervous_system(1)	NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6814-6816)Gtc>Atc		epiplakin 1		C	ILE/VAL	2,4322		0,2,2160	43.0	41.0	41.0		6814	-1.3	1.0	8		41	7,8473		0,7,4233	no	missense	EPPK1	NM_031308.1	29	0,9,6393	TT,TC,CC		0.0825,0.0463,0.0703	benign	2272/2420	144940608	9,12795	2162	4240	6402	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940608C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6814G>A	8.37:g.144940608C>T	ENSP00000436337:p.Val2272Ile						p.V2272I			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	6885	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2272					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.6814G>A		.	.	.	.	.	.	.	.	.	.	C	5.870	0.344685	0.11126	4.63E-4	8.25E-4	ENSG00000227184	ENST00000525985	T	0.63580	-0.05	4.63	-1.32	0.09201	.	.	.	.	.	T	0.23451	0.0567	N	0.00991	-1.07	0.29726	N	0.838232	B	0.24963	0.115	B	0.29598	0.104	T	0.36601	-0.9741	9	0.02654	T	1	.	4.9377	0.13948	0.0:0.4183:0.2731:0.3086	.	2272	E9PPU0	.	I	2272	ENSP00000436337:V2272I	ENSP00000436337:V2272I	V	-	1	0	EPPK1	145012596	0.000000	0.05858	0.985000	0.45067	0.968000	0.65278	-2.308000	0.01131	-0.505000	0.06568	-0.236000	0.12185	GTC		0.716	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		5	41	0	0	0	1	0	5	41				
WDR33	55339	broad.mit.edu	37	2	128467314	128467314	+	Missense_Mutation	SNP	G	G	A	rs139877926		TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr2:128467314G>A	ENST00000322313.4	-	19	3583	c.3425C>T	c.(3424-3426)gCg>gTg	p.A1142V		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1142					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TCCTCGGGCCGCTTCCTCAGA	0.577																																						ENST00000322313.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(3424-3426)gCg>gTg		WD repeat domain 33		G	VAL/ALA	0,4406		0,0,2203	86.0	95.0	92.0		3425	4.4	0.8	2	dbSNP_134	92	3,8597	3.0+/-9.4	0,3,4297	yes	missense	WDR33	NM_018383.4	64	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	possibly-damaging	1142/1337	128467314	3,13003	2203	4300	6503	SO:0001583	missense	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128467314G>A		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.3425C>T	2.37:g.128467314G>A	ENSP00000325377:p.Ala1142Val						p.A1142V	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	19	3583	-	Colorectal(110;0.1)		1142					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	c.3425C>T	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.593170	0.46214	0.0	3.49E-4	ENSG00000136709	ENST00000322313	D	0.89196	-2.48	5.32	4.38	0.52667	.	0.746972	0.12974	N	0.423904	T	0.78310	0.4263	N	0.08118	0	0.09310	N	0.999998	B	0.15141	0.012	B	0.10450	0.005	T	0.64262	-0.6449	10	0.28530	T	0.3	-3.801	13.2799	0.60208	0.0:0.0:0.7618:0.2382	.	1142	Q9C0J8	WDR33_HUMAN	V	1142	ENSP00000325377:A1142V	ENSP00000325377:A1142V	A	-	2	0	WDR33	128183784	0.967000	0.33354	0.788000	0.31933	0.936000	0.57629	2.405000	0.44548	2.493000	0.84123	0.561000	0.74099	GCG		0.577	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		4	131	0	0	0	1	0	4	131				
SACM1L	22908	broad.mit.edu	37	3	45745007	45745007	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr3:45745007C>A	ENST00000389061.5	+	2	314	c.110C>A	c.(109-111)tCc>tAc	p.S37Y	SACM1L_ENST00000418611.1_5'UTR|SACM1L_ENST00000464524.1_3'UTR|SACM1L_ENST00000541314.1_Missense_Mutation_p.P19T	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	37					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)	phosphatase activity (GO:0016791)|phosphatidylinositol bisphosphate phosphatase activity (GO:0034593)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		GACCGTGTGTCCACAGAGGTT	0.353																																						ENST00000389061.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23						c.(109-111)tCc>tAc		SAC1 suppressor of actin mutations 1-like (yeast)							135.0	131.0	133.0					3																	45745007		2203	4300	6503	SO:0001583	missense	22908					Golgi apparatus		g.chr3:45745007C>A	AB020658	CCDS33745.1	3p21.3	2010-03-11			ENSG00000211456	ENSG00000211456			17059	protein-coding gene	gene with protein product		606569				10048485, 11352561	Standard	NM_014016		Approved	SAC1, KIAA0851	uc003cos.2	Q9NTJ5	OTTHUMG00000156653	ENST00000389061.5:c.110C>A	3.37:g.45745007C>A	ENSP00000373713:p.Ser37Tyr					SACM1L_ENST00000541314.1_Missense_Mutation_p.P19T|SACM1L_ENST00000418611.1_5'UTR|SACM1L_ENST00000464524.1_3'UTR	p.S37Y	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)	2	314	+			37					A8K527|B4DK71|O94935|Q7LA14|Q7LA22|Q96AX7|Q9NQ46|Q9NQ57	Missense_Mutation	SNP	ENST00000389061.5	37	c.110C>A	CCDS33745.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.27|18.27	3.586607|3.586607	0.66105|0.66105	.|.	.|.	ENSG00000211456|ENSG00000211456	ENST00000438671;ENST00000541314|ENST00000389061	T|T	0.40476|0.47869	1.03|0.83	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.71126|0.71126	0.3303|0.3303	M|M	0.81239|0.81239	2.535|2.535	0.37153|0.37153	D|D	0.902221|0.902221	B|D	0.20780|0.65815	0.048|0.995	B|D	0.27500|0.68765	0.08|0.96	T|T	0.77648|0.77648	-0.2509|-0.2509	9|10	0.87932|0.59425	D|D	0|0.04	-11.5372|-11.5372	19.0448|19.0448	0.93015|0.93015	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	19|37	B4DK71|Q9NTJ5	.|SAC1_HUMAN	T|Y	19|37	ENSP00000443373:P19T|ENSP00000373713:S37Y	ENSP00000411966:P19T|ENSP00000373713:S37Y	P|S	+|+	1|2	0|0	SACM1L|SACM1L	45720011|45720011	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	7.097000|7.097000	0.76967|0.76967	2.495000|2.495000	0.84180|0.84180	0.591000|0.591000	0.81541|0.81541	CCA|TCC		0.353	SACM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345065.2	NM_014016		36	71	1	0	1.61863e-15	1	1.81067e-15	36	71				
CROCCP2	84809	broad.mit.edu	37	1	16957305	16957306	+	lincRNA	INS	-	-	C	rs33996121		TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr1:16957305_16957306insC	ENST00000412962.1	-	0	294							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CCCCAGACACGCCCCCACCCCC	0.663																																						ENST00000412962.1																			0																																																			0							g.chr1:16957305_16957306insC	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16957310_16957310dupC														0	294	-								Q8NF65|Q96FR5|Q9BRE8	RNA	INS	ENST00000412962.1	37																																																																																						0.663	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		7	4						7	4	---	---	---	---
BCL10	8915	broad.mit.edu	37	1	85736511	85736511	+	Frame_Shift_Del	DEL	T	T	-			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr1:85736511delT	ENST00000370580.1	-	2	873	c.136delA	c.(136-138)atafs	p.I46fs		NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	46	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				adaptive immune response (GO:0002250)|B cell apoptotic process (GO:0001783)|cell death (GO:0008219)|cellular defense response (GO:0006968)|cellular response to mechanical stimulus (GO:0071260)|Fc-epsilon receptor signaling pathway (GO:0038095)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interleukin-6 biosynthetic process (GO:0042226)|lymphotoxin A biosynthetic process (GO:0042109)|negative regulation of mature B cell apoptotic process (GO:0002906)|neural tube closure (GO:0001843)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of mast cell cytokine production (GO:0032765)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|regulation of T cell receptor signaling pathway (GO:0050856)|response to food (GO:0032094)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell apoptotic process (GO:0070231)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor signaling pathway (GO:0002224)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|kinase binding (GO:0019900)|NF-kappaB binding (GO:0051059)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.I46fs*4(1)		haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		CTACTGAGTATTTTTTTTGCA	0.343			T	IGH@	MALT																																NSCLC(34;993 1034 12176 32621 50182)	ENST00000370580.1				Dom	yes		1	1p22	8915	T	B-cell CLL/lymphoma 10			L	IGH@		MALT		1	Insertion - Frameshift(1)	p.I46fs*4(1)	ovary(1)	haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19						c.(136-138)tafs		B-cell CLL/lymphoma 10							83.0	90.0	87.0					1																	85736511		2203	4300	6503	SO:0001589	frameshift_variant	8915				apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway	CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding	g.chr1:85736511delT	AJ006288	CCDS704.1	1p22	2008-07-18			ENSG00000142867	ENSG00000142867			989	protein-coding gene	gene with protein product	"""CARD-like apoptotic protein"", ""CARD-containing apoptotic signaling protein"", ""CARD containing molecule enhancing NF-kB"", ""caspase-recruiting domain-containing protein"", ""CARD-containing proapoptotic protein"""	603517				9989495	Standard	NM_003921		Approved	CARMEN, CIPER, mE10, c-E10, CLAP	uc021opd.1	O95999	OTTHUMG00000009965	ENST00000370580.1:c.136delA	1.37:g.85736511delT	ENSP00000359612:p.Ile46fs						p.I46fs	NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN		all cancers(265;0.0114)|Epithelial(280;0.0311)	2	873	-			46			CARD.		Q5VUF1	Frame_Shift_Del	DEL	ENST00000370580.1	37	c.136delA	CCDS704.1																																																																																				0.343	BCL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027612.1	NM_003921		8	123						8	123	---	---	---	---
GOLIM4	27333	broad.mit.edu	37	3	167747642	167747644	+	In_Frame_Del	DEL	CTG	CTG	-	rs61743912|rs370119073	byFrequency	TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr3:167747642_167747644delCTG	ENST00000470487.1	-	10	2046_2048	c.1357_1359delCAG	c.(1357-1359)cagdel	p.Q453del	GOLIM4_ENST00000309027.4_In_Frame_Del_p.Q425del	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	453	Gln-rich.|Glu-rich.				transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTCTTGCCACctgctgctgctgc	0.64																																						ENST00000470487.1																			0				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1357-1359)del		golgi integral membrane protein 4																																				SO:0001651	inframe_deletion	27333				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		g.chr3:167747642_167747644delCTG	U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"""golgi phosphoprotein 4"""	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.1357_1359delCAG	3.37:g.167747651_167747653delCTG	ENSP00000417354:p.Gln453del					GOLIM4_ENST00000309027.4_In_Frame_Del_p.Q425del	p.Q453del	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN			10	2046_2048	-			453			Gln-rich.|Glu-rich.			In_Frame_Del	DEL	ENST00000470487.1	37	c.1357_1359delCAG	CCDS3204.1																																																																																				0.640	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2			7	66						7	66	---	---	---	---
TFAM	7019	broad.mit.edu	37	10	60148570	60148570	+	Frame_Shift_Del	DEL	A	A	-	rs544132101|rs78912196		TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr10:60148570delA	ENST00000487519.1	+	4	958	c.432delA	c.(430-432)acafs	p.T144fs	TFAM_ENST00000373895.3_Frame_Shift_Del_p.T144fs|TFAM_ENST00000373899.3_3'UTR	NM_001270782.1|NM_003201.2	NP_001257711.1|NP_003192.1	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial	144					DNA-dependent DNA replication (GO:0006261)|gene expression (GO:0010467)|mitochondrial respiratory chain complex assembly (GO:0033108)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|mitochondrial light strand promoter sense binding (GO:0070363)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						AAGCTATGACAAAAAAAAAAG	0.269																																						ENST00000487519.1																			0				kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						c.(430-432)acfs		transcription factor A, mitochondrial							39.0	47.0	44.0					10																	60148570		2195	4296	6491	SO:0001589	frameshift_variant	7019				DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr10:60148570delA	BC018628	CCDS7253.1, CCDS59217.1	10q21	2010-09-24			ENSG00000108064	ENSG00000108064			11741	protein-coding gene	gene with protein product		600438		TCF6, TCF6L2		7789991	Standard	NM_003201		Approved		uc001jkf.4	Q00059	OTTHUMG00000018270	ENST00000487519.1:c.432delA	10.37:g.60148570delA	ENSP00000420588:p.Thr144fs					TFAM_ENST00000373899.3_3'UTR|TFAM_ENST00000373895.3_Frame_Shift_Del_p.T144fs	p.T144fs	NM_003201.1	NP_003192.1	Q00059	TFAM_HUMAN			4	958	+			144					A8MRB2|A9QXC6|B5BU05|Q5U0C6	Frame_Shift_Del	DEL	ENST00000487519.1	37	c.432delA	CCDS7253.1																																																																																				0.269	TFAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048146.1	NM_003201		8	92						8	92	---	---	---	---
PTEN	5728	broad.mit.edu	37	10	89717713	89717715	+	In_Frame_Del	DEL	GTT	GTT	-	rs587782341		TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr10:89717713_89717715delGTT	ENST00000371953.3	+	7	2095_2097	c.738_740delGTT	c.(736-741)ccgtta>cca	p.L247del	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	247	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.P246fs*10(3)|p.L247fs*10(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.L247*(2)|p.L247fs*11(1)|p.L247fs*12(1)|p.G165_*404del(1)|p.L247fs*6(1)|p.?(1)|p.L247fs*5(1)|p.F243fs*9(1)|p.L247fs*8(1)|p.L247fs*4(1)|p.P246_L247insGP(1)|p.L247L(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TCCCTCAGCCGTTACCTGTGTGT	0.409		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		64	Whole gene deletion(37)|Deletion - Frameshift(14)|Insertion - Frameshift(7)|Substitution - Nonsense(2)|Deletion - In frame(1)|Insertion - In frame(1)|Unknown(1)|Substitution - coding silent(1)	p.0?(37)|p.R55fs*1(5)|p.P246fs*10(3)|p.L247fs*10(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.L247*(2)|p.L247fs*11(1)|p.L247fs*12(1)|p.G165_*404del(1)|p.L247fs*6(1)|p.?(1)|p.L247fs*5(1)|p.F243fs*9(1)|p.L247fs*8(1)|p.L247fs*4(1)|p.P246_L247insGP(1)|p.L247L(1)	prostate(16)|haematopoietic_and_lymphoid_tissue(12)|central_nervous_system(10)|skin(6)|endometrium(5)|lung(4)|breast(4)|ovary(3)|urinary_tract(2)|soft_tissue(1)|pancreas(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(736-741)cca>cc		phosphatase and tensin homolog																																				SO:0001651	inframe_deletion	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89717713_89717715delGTT	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.738_740delGTT	10.37:g.89717713_89717715delGTT	ENSP00000361021:p.Leu247del	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_ENST00000472832.1_3'UTR	p.PL246del	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	7	2095_2097	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	246		P -> L (in CD and BZS).	C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	In_Frame_Del	DEL	ENST00000371953.3	37	c.738_740delGTT	CCDS31238.1																																																																																				0.409	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		28	89						28	89	---	---	---	---
LZTS2	84445	broad.mit.edu	37	10	102763415	102763417	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr10:102763415_102763417delCCT	ENST00000370220.1	+	2	3623_3625	c.560_562delCCT	c.(559-564)gcctcc>gcc	p.S197del	LZTS2_ENST00000370223.3_In_Frame_Del_p.S197del					leucine zipper, putative tumor suppressor 2											breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GGGGGCCCTGcctcctcctcctc	0.65																																					Esophageal Squamous(8;38 437 13604 19902 37640)	ENST00000370220.1																			0				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(559-564)gcc>g		leucine zipper, putative tumor suppressor 2				12,4252		3,6,2123						5.3	1.0			94	17,8235		4,9,4113	no	coding	LZTS2	NM_032429.2		7,15,6236	A1A1,A1R,RR		0.206,0.2814,0.2317				29,12487				SO:0001651	inframe_deletion	84445				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center		g.chr10:102763415_102763417delCCT	AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816			29381	protein-coding gene	gene with protein product		610454				11347906, 11709705	Standard	NM_032429		Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.560_562delCCT	10.37:g.102763424_102763426delCCT	ENSP00000359240:p.Ser197del					LZTS2_ENST00000370223.3_In_Frame_Del_p.AS187del	p.AS187del			Q9BRK4	LZTS2_HUMAN		Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)	2	3623_3625	+			187			Required for centrosomal localization (By similarity).			In_Frame_Del	DEL	ENST00000370220.1	37	c.560_562delCCT	CCDS7507.1																																																																																				0.650	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049872.1	XM_046743		9	267						9	267	---	---	---	---
LINC00987	100499405	broad.mit.edu	37	12	9392739	9392740	+	lincRNA	INS	-	-	TCTTCCTCCTCC	rs71045240|rs71265059		TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr12:9392739_9392740insTCTTCCTCCTCC	ENST00000427111.3	+	0	141_142					NR_036466.1				long intergenic non-protein coding RNA 987																		caccatcaccttcttcctcccc	0.545														354	0.0706869	0.0272	0.1455	5008	,	,		14189	0.0813		0.0706	False		,,,				2504	0.0654					ENST00000427111.3																			0																																																			0							g.chr12:9392739_9392740insTCTTCCTCCTCC	AK126248		12p13.31	2013-07-04			ENSG00000237248	ENSG00000237248		"""Long non-coding RNAs"""	48911	non-coding RNA	RNA, long non-coding							Standard	NR_036466		Approved				OTTHUMG00000168332		12.37:g.9392739_9392740insTCTTCCTCCTCC								NR_036466.1						0	141_142	+									RNA	INS	ENST00000427111.3	37																																																																																						0.545	LINC00987-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000399347.1			4	8						4	8	---	---	---	---
KRT18	3875	broad.mit.edu	37	12	53344130	53344156	+	In_Frame_Del	DEL	GACAATGCCCGCATCGTTCTGCAGATT	GACAATGCCCGCATCGTTCTGCAGATT	-	rs59979366|rs200694483|rs370728079	byFrequency	TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr12:53344130_53344156delGACAATGCCCGCATCGTTCTGCAGATT	ENST00000388835.3	+	2	646_672	c.436_462delGACAATGCCCGCATCGTTCTGCAGATT	c.(436-462)gacaatgcccgcatcgttctgcagattdel	p.DNARIVLQI146del	KRT8_ENST00000552551.1_5'Flank|AC107016.2_ENST00000581256.1_RNA|KRT18_ENST00000550600.1_In_Frame_Del_p.DNARIVLQI146del|KRT8_ENST00000549198.1_5'Flank|KRT18_ENST00000388837.2_In_Frame_Del_p.DNARIVLQI146del|KRT8_ENST00000546897.1_5'Flank	NM_000224.2	NP_000215.1	P05783	K1C18_HUMAN	keratin 18	146	Coil 1B.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis (GO:0009653)|cell cycle (GO:0007049)|extrinsic apoptotic signaling pathway (GO:0097191)|Golgi to plasma membrane CFTR protein transport (GO:0043000)|hepatocyte apoptotic process (GO:0097284)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of apoptotic process (GO:0043066)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell periphery (GO:0071944)|centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						AAATACTGTGGACAATGCCCGCATCGTTCTGCAGATTGACAATGCCC	0.498																																						ENST00000550600.1																			0				central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11	GRCh37	CM057881	KRT18	M	rs59979366	c.(436-462)del		keratin 18																																				SO:0001651	inframe_deletion	3875				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity	g.chr12:53344130_53344156delGACAATGCCCGCATCGTTCTGCAGATT		CCDS31809.1	12q13	2013-01-16			ENSG00000111057	ENSG00000111057		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6430	protein-coding gene	gene with protein product		148070				1705144, 16831889	Standard	NM_000224		Approved		uc001sbg.3	P05783	OTTHUMG00000169882	ENST00000388835.3:c.436_462delGACAATGCCCGCATCGTTCTGCAGATT	12.37:g.53344130_53344156delGACAATGCCCGCATCGTTCTGCAGATT	ENSP00000373487:p.Asp146_Ile154del					KRT18_ENST00000388835.3_In_Frame_Del_p.DNARIVLQI146del|KRT18_ENST00000388837.2_In_Frame_Del_p.DNARIVLQI146del	p.DNARIVLQI146del			P05783	K1C18_HUMAN			3	490_516	+			146			Coil 1B.|Necessary for interaction with PNN.|Rod.		Q53G38|Q5U0N8|Q9BW26	In_Frame_Del	DEL	ENST00000388835.3	37	c.436_462delGACAATGCCCGCATCGTTCTGCAGATT	CCDS31809.1																																																																																				0.498	KRT18-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406405.1	NM_199187		7	759						7	759	---	---	---	---
SOX9	6662	broad.mit.edu	37	17	70120224	70120226	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr17:70120224_70120226delAGC	ENST00000245479.2	+	3	1598_1600	c.1226_1228delAGC	c.(1225-1230)gagcag>gag	p.Q412del		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	412					astrocyte fate commitment (GO:0060018)|branching involved in ureteric bud morphogenesis (GO:0001658)|cAMP-mediated signaling (GO:0019933)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to heparin (GO:0071504)|cellular response to interleukin-1 (GO:0071347)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|chondrocyte hypertrophy (GO:0003415)|chromatin remodeling (GO:0006338)|cochlea morphogenesis (GO:0090103)|cytoskeleton organization (GO:0007010)|endocardial cushion morphogenesis (GO:0003203)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in prostatic bud elongation (GO:0060517)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|heart valve development (GO:0003170)|heart valve formation (GO:0003188)|heart valve morphogenesis (GO:0003179)|intestinal epithelial structure maintenance (GO:0060729)|intrahepatic bile duct development (GO:0035622)|limb bud formation (GO:0060174)|lung epithelial cell differentiation (GO:0060487)|male germ-line sex determination (GO:0019100)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of bone mineralization (GO:0030502)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune system process (GO:0002683)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of ossification (GO:0030279)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|notochord development (GO:0030903)|nucleosome assembly (GO:0006334)|oligodendrocyte differentiation (GO:0048709)|ossification (GO:0001503)|otic vesicle formation (GO:0030916)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of kidney development (GO:0090184)|positive regulation of male gonad development (GO:2000020)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein complex assembly (GO:0006461)|protein kinase B signaling (GO:0043491)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in lung morphogenesis (GO:0061046)|regulation of cell adhesion (GO:0030155)|regulation of cell cycle process (GO:0010564)|regulation of cell proliferation (GO:0042127)|regulation of cell proliferation involved in tissue homeostasis (GO:0060784)|regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000794)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|tissue homeostasis (GO:0001894)|transcription from RNA polymerase II promoter (GO:0006366)|ureter morphogenesis (GO:0072197)|ureter smooth muscle cell differentiation (GO:0072193)|ureter urothelium development (GO:0072190)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enhancer binding (GO:0035326)|enhancer sequence-specific DNA binding (GO:0001158)|pre-mRNA intronic binding (GO:0097157)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase activity (GO:0004672)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			CACTACAGCGAGCAGCAGCAGCA	0.65																																					Pancreas(42;83 1041 2320 35205 39456)	ENST00000245479.2																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26						c.(1225-1230)gag>g		SRY (sex determining region Y)-box 9																																				SO:0001651	inframe_deletion	6662				cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr17:70120224_70120226delAGC	S74506	CCDS11689.1	17q24.3	2013-10-17	2008-07-31		ENSG00000125398	ENSG00000125398		"""SRY (sex determining region Y)-boxes"""	11204	protein-coding gene	gene with protein product		608160	"""campomelic dysplasia, autosomal sex-reversal"""	CMD1, CMPD1		8348155	Standard	NM_000346		Approved	SRA1	uc002jiw.3	P48436	OTTHUMG00000166300	ENST00000245479.2:c.1226_1228delAGC	17.37:g.70120233_70120235delAGC	ENSP00000245479:p.Gln412del						p.EQ409del	NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	STAD - Stomach adenocarcinoma(260;0.119)		3	1598_1600	+		Colorectal(1115;0.245)	409					Q53Y80	In_Frame_Del	DEL	ENST00000245479.2	37	c.1226_1228delAGC	CCDS11689.1																																																																																				0.650	SOX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389032.1	NM_000346		8	277						8	277	---	---	---	---
CHIC1	53344	broad.mit.edu	37	X	72783280	72783282	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chrX:72783280_72783282delGAG	ENST00000373502.5	+	1	237_239	c.160_162delGAG	c.(160-162)gagdel	p.E68del	MAP2K4P1_ENST00000602584.1_RNA|CHIC1_ENST00000373504.6_In_Frame_Del_p.E68del	NM_001039840.2	NP_001034929.2	Q5VXU3	CHIC1_HUMAN	cysteine-rich hydrophobic domain 1	68	Poly-Glu.					cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(2)	4	Renal(35;0.156)					agaggaggaagaggaggaggagg	0.635																																						ENST00000373504.6																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(160-162)del		cysteine-rich hydrophobic domain 1																																				SO:0001651	inframe_deletion	53344					cytoplasmic membrane-bounded vesicle|plasma membrane		g.chrX:72783280_72783282delGAG	Y11897	CCDS35335.2, CCDS75993.1	Xq13.2	2008-05-14			ENSG00000204116	ENSG00000204116			1934	protein-coding gene	gene with protein product		300922				9321471, 11257495	Standard	NM_001039840		Approved	BRX	uc004ebk.4	Q5VXU3	OTTHUMG00000021835	ENST00000373502.5:c.160_162delGAG	X.37:g.72783289_72783291delGAG	ENSP00000362601:p.Glu68del					CHIC1_ENST00000373502.5_In_Frame_Del_p.E68del	p.E68del			Q5VXU3	CHIC1_HUMAN			1	245_247	+	Renal(35;0.156)		68			Poly-Glu.		A0PJZ2|B0QZ87|B9EGS5|Q5CZ84	In_Frame_Del	DEL	ENST00000373502.5	37	c.160_162delGAG	CCDS35335.2																																																																																				0.635	CHIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057233.3			4	4						4	4	---	---	---	---
PDZD4	57595	broad.mit.edu	37	X	153072793	153072793	+	Frame_Shift_Del	DEL	C	C	-			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chrX:153072793delC	ENST00000164640.4	-	3	519	c.328delG	c.(328-330)gcgfs	p.A110fs	PDZD4_ENST00000393758.2_Frame_Shift_Del_p.A35fs|PDZD4_ENST00000475140.1_5'UTR|PDZD4_ENST00000544474.1_Intron	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	110						cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	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)					ATAAACTCCGCCGGGTCATAA	0.667																																						ENST00000164640.4																			0				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23						c.(328-330)cgfs		PDZ domain containing 4							25.0	24.0	24.0					X																	153072793		2200	4296	6496	SO:0001589	frameshift_variant	57595					cell cortex		g.chrX:153072793delC	AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.328delG	X.37:g.153072793delC	ENSP00000164640:p.Ala110fs					PDZD4_ENST00000475140.1_5'UTR|PDZD4_ENST00000393758.2_Frame_Shift_Del_p.A35fs|PDZD4_ENST00000544474.1_Intron	p.A110fs	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN			3	519	-	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)		110					B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Frame_Shift_Del	DEL	ENST00000164640.4	37	c.328delG	CCDS14732.1																																																																																				0.667	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061013.3	NM_032512		9	18						9	18	---	---	---	---
