#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
RGPD3	653489	broad.mit.edu	37	2	107049631	107049631	+	Silent	SNP	C	C	T			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr2:107049631C>T	ENST00000409886.3	-	16	2403	c.2316G>A	c.(2314-2316)gcG>gcA	p.A772A	RGPD3_ENST00000304514.7_Silent_p.A772A	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	772					protein targeting to Golgi (GO:0000042)			p.A772A(4)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTTCTGAATCCGCATTTCGCA	0.373																																						ENST00000409886.3																			4	Substitution - coding silent(4)	p.A772A(4)	kidney(2)|endometrium(2)	breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2314-2316)gcG>gcA		RANBP2-like and GRIP domain containing 3							81.0	68.0	72.0					2																	107049631		692	1590	2282	SO:0001819	synonymous_variant	653489				intracellular transport		binding	g.chr2:107049631C>T		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2316G>A	2.37:g.107049631C>T						RGPD3_ENST00000304514.7_Silent_p.A772A	p.A772A	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			16	2403	-			772					B8ZZM4	Silent	SNP	ENST00000409886.3	37	c.2316G>A	CCDS46379.1																																																																																				0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		5	198	0	0	0	1	0	5	198				
ZNF738	148203	broad.mit.edu	37	19	21558687	21558687	+	Silent	SNP	G	G	A			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr19:21558687G>A	ENST00000311015.3	+	4	451	c.240G>A	c.(238-240)aaG>aaA	p.K80K	ZNF738_ENST00000380870.4_Silent_p.K80K|ZNF738_ENST00000597810.1_Silent_p.K80K			Q8NE65	ZN738_HUMAN	zinc finger protein 738	80	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|lung(1)	2						ATGTCTCTAAGCCAGATCTGA	0.388																																						ENST00000311015.3																			0				kidney(1)|lung(1)	2						c.(238-240)aaG>aaA																																						SO:0001819	synonymous_variant	0							g.chr19:21558687G>A	BC034499		19p12	2013-01-16			ENSG00000172687	ENSG00000172687			32469	other	unknown							Standard	NR_027130		Approved		uc002nps.4	Q8NE65	OTTHUMG00000141298	ENST00000311015.3:c.240G>A	19.37:g.21558687G>A						ZNF738_ENST00000597810.1_Silent_p.K80K|ZNF738_ENST00000380870.4_Silent_p.K80K	p.K80K							4	451	+								A8K4N7	Silent	SNP	ENST00000311015.3	37	c.240G>A																																																																																					0.388	ZNF738-001	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000280564.1	NR_027130		19	47	0	0	0	1	0	19	47				
ARHGAP32	9743	broad.mit.edu	37	11	128844290	128844290	+	Silent	SNP	T	T	C			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr11:128844290T>C	ENST00000310343.9	-	20	2759	c.2760A>G	c.(2758-2760)tcA>tcG	p.S920S	ARHGAP32_ENST00000527272.1_Silent_p.S571S|ARHGAP32_ENST00000392657.3_Silent_p.S571S|ARHGAP32_ENST00000524655.1_Silent_p.S846S	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	920					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CAATGACTTCTGACACCCGTG	0.453																																						ENST00000310343.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(2758-2760)tcA>tcG		Rho GTPase activating protein 32							179.0	164.0	169.0					11																	128844290		2201	4297	6498	SO:0001819	synonymous_variant	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128844290T>C	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.2760A>G	11.37:g.128844290T>C						ARHGAP32_ENST00000524655.1_Silent_p.S846S|ARHGAP32_ENST00000392657.3_Silent_p.S571S|ARHGAP32_ENST00000527272.1_Silent_p.S571S	p.S920S	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN			20	2759	-			920					I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Silent	SNP	ENST00000310343.9	37	c.2760A>G	CCDS44769.1																																																																																				0.453	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		13	76	0	0	0	1	0	13	76				
IGLV2-28	28812	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T	rs200228350	byFrequency	TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627																																						ENST00000385099.1																			0																																																			0							g.chr22:23006961C>T																													22.37:g.23006961C>T														0	64	+									RNA	SNP	ENST00000385099.1	37																																																																																						0.627	D86994.2-201	NOVEL	basic	miRNA	miRNA				3	12	0	0	0	1	0	3	12				
WDR82	80335	broad.mit.edu	37	3	52304795	52304795	+	Silent	SNP	A	A	G	rs558625924	byFrequency	TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr3:52304795A>G	ENST00000296490.3	-	2	473	c.192T>C	c.(190-192)taT>taC	p.Y64Y	MIRLET7G_ENST00000362280.1_RNA	NM_025222.3	NP_079498.2	Q6UXN9	WDR82_HUMAN	WD repeat domain 82	64					histone H3-K4 methylation (GO:0051568)	chromatin (GO:0000785)|histone methyltransferase complex (GO:0035097)|PTW/PP1 phosphatase complex (GO:0072357)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)								BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)		GGTCCACACCATATTTCTTAC	0.383													A|||	2	0.000399361	0.0	0.0	5008	,	,		20018	0.0		0.002	False		,,,				2504	0.0					ENST00000296490.3																			0											c.(190-192)taT>taC		WD repeat domain 82							256.0	228.0	237.0					3																	52304795		1867	4104	5971	SO:0001819	synonymous_variant	80335				histone H3-K4 methylation	chromatin|PTW/PP1 phosphatase complex|Set1C/COMPASS complex	protein binding	g.chr3:52304795A>G	AF132207	CCDS2851.2	3p21.2	2013-01-10	2007-07-04	2007-07-04	ENSG00000164091	ENSG00000164091		"""WD repeat domain containing"""	28826	protein-coding gene	gene with protein product		611059	"""transmembrane protein 113"""	TMEM113		17355966	Standard	NM_025222		Approved	PRO2730, MST107, MSTP107, PRO34047, WDR82A, SWD2	uc003ddl.2	Q6UXN9	OTTHUMG00000150391	ENST00000296490.3:c.192T>C	3.37:g.52304795A>G							p.Y64Y	NM_025222.3	NP_079498.2	Q6UXN9	WDR82_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)	2	473	-			64					A8K5R5|Q8TEB2	Silent	SNP	ENST00000296490.3	37	c.192T>C	CCDS2851.2																																																																																				0.383	WDR82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317919.1	NM_025222		20	197	0	0	0	1	0	20	197				
ARHGEF10	9639	broad.mit.edu	37	8	1900969	1900969	+	Silent	SNP	C	C	T			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr8:1900969C>T	ENST00000398564.1	+	28	3571	c.3571C>T	c.(3571-3573)Ctg>Ttg	p.L1191L	ARHGEF10_ENST00000349830.3_Silent_p.L1166L|ARHGEF10_ENST00000262112.6_Silent_p.L1162L|ARHGEF10_ENST00000520359.1_Silent_p.L1128L|ARHGEF10_ENST00000521927.1_3'UTR|ARHGEF10_ENST00000518288.1_Silent_p.L1190L			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	1191					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		GGTCCCACGTCTGCAAGGGAT	0.622																																						ENST00000518288.1																			0				endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35						c.(3568-3570)Ctg>Ttg		Rho guanine nucleotide exchange factor (GEF) 10							56.0	56.0	56.0					8																	1900969		2203	4300	6503	SO:0001819	synonymous_variant	9639				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	g.chr8:1900969C>T	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.3571C>T	8.37:g.1900969C>T						ARHGEF10_ENST00000521927.1_3'UTR|ARHGEF10_ENST00000520359.1_Silent_p.L1128L|ARHGEF10_ENST00000262112.6_Silent_p.L1162L|ARHGEF10_ENST00000398564.1_Silent_p.L1191L|ARHGEF10_ENST00000349830.3_Silent_p.L1166L	p.L1190L			O15013	ARHGA_HUMAN		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	29	3731	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	1191					O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Silent	SNP	ENST00000398564.1	37	c.3568C>T																																																																																					0.622	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding				39	13	0	0	0	1	0	39	13				
GFAP	2670	broad.mit.edu	37	17	42989096	42989096	+	Missense_Mutation	SNP	C	C	A			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr17:42989096C>A	ENST00000253408.5	-	5	915	c.850G>T	c.(850-852)Gac>Tac	p.D284Y	GFAP_ENST00000435360.2_Missense_Mutation_p.D284Y|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000586793.1_Missense_Mutation_p.D284Y|GFAP_ENST00000591327.1_5'Flank	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	284	Coil 2B.|Rod.				astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|extracellular matrix organization (GO:0030198)|intermediate filament organization (GO:0045109)|long-term synaptic potentiation (GO:0060291)|negative regulation of neuron projection development (GO:0010977)|neuron projection regeneration (GO:0031102)|positive regulation of Schwann cell proliferation (GO:0010625)|regulation of neurotransmitter uptake (GO:0051580)|response to wounding (GO:0009611)	astrocyte projection (GO:0097449)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|membrane (GO:0016020)	structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				CGCCGGTAGTCGTTGGCTTCG	0.682																																						ENST00000253408.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						c.(850-852)Gac>Tac		glial fibrillary acidic protein							52.0	49.0	50.0					17																	42989096		2203	4300	6503	SO:0001583	missense	2670					cytoplasm|intermediate filament	structural constituent of cytoskeleton	g.chr17:42989096C>A	S40719	CCDS11491.1, CCDS45708.1, CCDS59296.1	17q21	2013-01-16						"""Intermediate filaments type III"""	4235	protein-coding gene	gene with protein product	"""intermediate filament protein"""	137780				9693047	Standard	NM_002055		Approved	FLJ45472	uc002ihq.3	P14136		ENST00000253408.5:c.850G>T	17.37:g.42989096C>A	ENSP00000253408:p.Asp284Tyr					GFAP_ENST00000588735.1_Intron|GFAP_ENST00000435360.2_Missense_Mutation_p.D284Y|GFAP_ENST00000586793.1_Missense_Mutation_p.D284Y	p.D284Y	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN			5	915	-		Prostate(33;0.0959)	284			Coil 2B.|Rod.		B2RD44|D3DX59|E9PAX3|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	Missense_Mutation	SNP	ENST00000253408.5	37	c.850G>T	CCDS11491.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.301725	0.81136	.	.	ENSG00000131095	ENST00000253408;ENST00000421021;ENST00000435360	D;D	0.97186	-4.28;-4.28	4.38	4.38	0.52667	Filament (1);	0.181162	0.48286	D	0.000195	D	0.98507	0.9502	M	0.86502	2.82	0.58432	D	0.999999	D;D	0.76494	0.999;0.991	D;D	0.70935	0.971;0.957	D	0.99150	1.0858	10	0.87932	D	0	.	17.9011	0.88904	0.0:1.0:0.0:0.0	.	284;284	E9PAX3;P14136	.;GFAP_HUMAN	Y	284;259;284	ENSP00000253408:D284Y;ENSP00000403962:D284Y	ENSP00000253408:D284Y	D	-	1	0	GFAP	40344622	1.000000	0.71417	0.998000	0.56505	0.413000	0.31143	5.897000	0.69831	2.751000	0.94390	0.650000	0.86243	GAC		0.682	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448701.1	NM_002055		39	53	1	0	2.91434e-09	1	3.27863e-09	39	53				
OR52D1	390066	broad.mit.edu	37	11	5510455	5510455	+	Silent	SNP	T	T	C			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr11:5510455T>C	ENST00000322641.5	+	1	541	c.519T>C	c.(517-519)ggT>ggC	p.G173G	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	173					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTACTGTGGTCACCGTGTCA	0.512																																						ENST00000322641.5																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(517-519)ggT>ggC		olfactory receptor, family 52, subfamily D, member 1							307.0	276.0	287.0					11																	5510455		2201	4297	6498	SO:0001819	synonymous_variant	390066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5510455T>C	BK004276	CCDS31384.1	11p15.4	2012-08-09			ENSG00000181609	ENSG00000181609		"""GPCR / Class A : Olfactory receptors"""	15212	protein-coding gene	gene with protein product							Standard	NM_001005163		Approved		uc010qzg.2	Q9H346	OTTHUMG00000066895	ENST00000322641.5:c.519T>C	11.37:g.5510455T>C						HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	p.G173G	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	541	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	173					B9EGY9|Q6IFI6	Silent	SNP	ENST00000322641.5	37	c.519T>C	CCDS31384.1																																																																																				0.512	OR52D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143372.1	NM_001005163		9	226	0	0	0	1	0	9	226				
VPS13B	157680	broad.mit.edu	37	8	100866042	100866042	+	Silent	SNP	A	A	G			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr8:100866042A>G	ENST00000358544.2	+	56	10611	c.10500A>G	c.(10498-10500)aaA>aaG	p.K3500K	VPS13B_ENST00000357162.2_Silent_p.K3475K|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3500					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ACAAGGAAAAATGTTTTATCA	0.393																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(10498-10500)aaA>aaG		vacuolar protein sorting 13 homolog B (yeast)							112.0	113.0	113.0					8																	100866042		2203	4300	6503	SO:0001819	synonymous_variant	157680				protein transport			g.chr8:100866042A>G	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.10500A>G	8.37:g.100866042A>G						VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.K3475K	p.K3500K	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		56	10611	+	Breast(36;3.73e-07)		3500					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	c.10500A>G	CCDS6280.1																																																																																				0.393	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		5	273	0	0	0	1	0	5	273				
ACTL7B	10880	broad.mit.edu	37	9	111618107	111618107	+	Missense_Mutation	SNP	G	G	A			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr9:111618107G>A	ENST00000374667.3	-	1	1132	c.104C>T	c.(103-105)gCg>gTg	p.A35V		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	35						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CTGAGTGGCCGCACCTGTGTC	0.657																																						ENST00000374667.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(103-105)gCg>gTg		actin-like 7B							82.0	82.0	82.0					9																	111618107		2203	4300	6503	SO:0001583	missense	10880					actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	g.chr9:111618107G>A	BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.104C>T	9.37:g.111618107G>A	ENSP00000363799:p.Ala35Val						p.A35V	NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN			1	1132	-			35					B2R9Q2|Q5JSV1	Missense_Mutation	SNP	ENST00000374667.3	37	c.104C>T	CCDS6771.1	.	.	.	.	.	.	.	.	.	.	G	5.797	0.331408	0.10956	.	.	ENSG00000148156	ENST00000374667	D	0.95137	-3.62	3.9	3.9	0.45041	.	1.644800	0.04615	U	0.401037	D	0.88919	0.6568	N	0.08118	0	0.09310	N	1	B	0.20261	0.043	B	0.12156	0.007	T	0.78563	-0.2156	10	0.87932	D	0	.	11.2797	0.49186	0.0:0.0:1.0:0.0	.	35	Q9Y614	ACL7B_HUMAN	V	35	ENSP00000363799:A35V	ENSP00000363799:A35V	A	-	2	0	ACTL7B	110657928	0.198000	0.23374	0.004000	0.12327	0.008000	0.06430	1.365000	0.34182	2.026000	0.59711	0.655000	0.94253	GCG		0.657	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053571.1	NM_006686		5	136	0	0	0	1	0	5	136				
BCRP7	100133163	broad.mit.edu	37	22	18845998	18845998	+	3'UTR	SNP	G	G	A	rs201503410		TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr22:18845998G>A	ENST00000412938.1	+	0	3356																											CCCGTCCTGCGCAGGCCGACA	0.607																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18845998G>A																												ENST00000412938.1:c.*3353G>A	22.37:g.18845998G>A														0	3356	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.607	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			10	45	0	0	0	1	0	10	45				
SPATA18	132671	broad.mit.edu	37	4	52960700	52960700	+	Missense_Mutation	SNP	G	G	A	rs143324533		TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr4:52960700G>A	ENST00000295213.4	+	12	1945	c.1571G>A	c.(1570-1572)cGa>cAa	p.R524Q	SPATA18_ENST00000419395.2_Missense_Mutation_p.R492Q	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	524					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			CAGATGTCTCGAAGTCGGAGT	0.343																																						ENST00000295213.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(1570-1572)cGa>cAa		spermatogenesis associated 18		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	109.0	114.0	112.0		1571	4.8	1.0	4	dbSNP_134	112	0,8600		0,0,4300	no	missense	SPATA18	NM_145263.2	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	524/539	52960700	1,13005	2203	4300	6503	SO:0001583	missense	132671				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	g.chr4:52960700G>A	BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"""spermatogenesis associated 18 homolog (rat)"""			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.1571G>A	4.37:g.52960700G>A	ENSP00000295213:p.Arg524Gln					SPATA18_ENST00000419395.2_Missense_Mutation_p.R492Q	p.R524Q	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)		12	1945	+			524					B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	ENST00000295213.4	37	c.1571G>A	CCDS3489.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.671138	0.88348	2.27E-4	0.0	ENSG00000163071	ENST00000295213;ENST00000419395	T;T	0.38240	1.15;1.18	4.84	4.84	0.62591	.	0.623860	0.15720	N	0.247926	T	0.54838	0.1883	L	0.55481	1.735	0.41280	D	0.986903	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.53844	-0.8381	10	0.66056	D	0.02	-6.2923	13.6443	0.62272	0.0:0.0:1.0:0.0	.	492;524	Q8TC71-2;Q8TC71	.;MIEAP_HUMAN	Q	524;492	ENSP00000295213:R524Q;ENSP00000415309:R492Q	ENSP00000295213:R524Q	R	+	2	0	SPATA18	52655457	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	4.694000	0.61760	2.677000	0.91161	0.655000	0.94253	CGA		0.343	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263		5	53	0	0	0	1	0	5	53				
GKN2	200504	broad.mit.edu	37	2	69173530	69173530	+	Silent	SNP	C	C	G			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr2:69173530C>G	ENST00000328895.4	-	5	486	c.378G>C	c.(376-378)ctG>ctC	p.L126L	GKN2_ENST00000481498.1_Silent_p.L126L	NM_182536.2	NP_872342.2	Q86XP6	GKN2_HUMAN	gastrokine 2	126	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.					extracellular region (GO:0005576)				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						CGTCTTTGATCAGAGACTCCA	0.433																																						ENST00000481498.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						c.(376-378)ctG>ctC		gastrokine 2							198.0	185.0	189.0					2																	69173530		2203	4300	6503	SO:0001819	synonymous_variant	200504					extracellular region		g.chr2:69173530C>G	AF494509	CCDS33215.1	2p14	2012-10-10			ENSG00000183607	ENSG00000183607		"""BRICHOS domain containing"""	24588	protein-coding gene	gene with protein product	"""down regulated in gastric cancer GDDR"", ""BRICHOS domain containing 1B"""					15774165, 15924415, 16888721	Standard	NM_182536		Approved	TFIZ1, PRO813, VLTI465, blottin, GDDR, BRICD1B	uc002sfa.3	Q86XP6	OTTHUMG00000152655	ENST00000328895.4:c.378G>C	2.37:g.69173530C>G						GKN2_ENST00000328895.4_Silent_p.L126L	p.L126L			Q86XP6	GKN2_HUMAN			5	396	-			126			BRICHOS.		Q6UWS6	Silent	SNP	ENST00000328895.4	37	c.378G>C	CCDS33215.1																																																																																				0.433	GKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327191.1	NM_182536		82	102	0	0	0	1	0	82	102				
EGFR	1956	broad.mit.edu	37	7	55229298	55229298	+	Silent	SNP	C	C	T			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr7:55229298C>T	ENST00000275493.2	+	13	1782	c.1605C>T	c.(1603-1605)tgC>tgT	p.C535C	EGFR_ENST00000342916.3_Silent_p.C535C|EGFR_ENST00000442591.1_Silent_p.C535C|EGFR_ENST00000454757.2_Silent_p.C482C|EGFR_ENST00000455089.1_Silent_p.C490C|EGFR_ENST00000344576.2_Silent_p.C535C	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	535					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.C535C(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GCAGGGAATGCGTGGACAAGT	0.567		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		2	Substitution - coding silent(2)	p.C535C(2)	haematopoietic_and_lymphoid_tissue(2)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(1603-1605)tgC>tgT		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						151.0	148.0	149.0					7																	55229298		2203	4300	6503	SO:0001819	synonymous_variant	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55229298C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1605C>T	7.37:g.55229298C>T		TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000455089.1_Silent_p.C490C|EGFR_ENST00000442591.1_Silent_p.C535C|EGFR_ENST00000454757.2_Silent_p.C482C|EGFR_ENST00000342916.3_Silent_p.C535C|EGFR_ENST00000344576.2_Silent_p.C535C	p.C535C	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		13	1782	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		535					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Silent	SNP	ENST00000275493.2	37	c.1605C>T	CCDS5514.1																																																																																				0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		4	222	0	0	0	1	0	4	222				
C4orf51	646603	broad.mit.edu	37	4	146650335	146650335	+	Missense_Mutation	SNP	G	G	T			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr4:146650335G>T	ENST00000438731.1	+	4	381	c.381G>T	c.(379-381)tgG>tgT	p.W127C		NM_001080531.1	NP_001074000.1	C9J302	CD051_HUMAN	chromosome 4 open reading frame 51	127										haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						ATCAAATTTGGGATTTTGGTG	0.313																																						ENST00000438731.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						c.(379-381)tgG>tgT		chromosome 4 open reading frame 51							101.0	94.0	96.0					4																	146650335		1825	4081	5906	SO:0001583	missense	646603							g.chr4:146650335G>T		CCDS47140.1	4q31.21	2009-09-09			ENSG00000237136	ENSG00000237136			37264	protein-coding gene	gene with protein product							Standard	NM_001080531		Approved		uc003ikk.3	C9J302	OTTHUMG00000161367	ENST00000438731.1:c.381G>T	4.37:g.146650335G>T	ENSP00000391404:p.Trp127Cys						p.W127C	NM_001080531.1	NP_001074000.1	C9J302	CD051_HUMAN			4	381	+			127						Missense_Mutation	SNP	ENST00000438731.1	37	c.381G>T	CCDS47140.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.770|9.770	1.172441|1.172441	0.21704|0.21704	.|.	.|.	ENSG00000237136|ENSG00000237136	ENST00000511965|ENST00000438731	.|.	.|.	.|.	3.48|3.48	2.62|2.62	0.31277|0.31277	.|.	.|.	.|.	.|.	.|.	T|T	0.48822|0.48822	0.1521|0.1521	N|N	0.24115|0.24115	0.695|0.695	0.38151|0.38151	D|D	0.938744|0.938744	.|D	.|0.61697	.|0.99	.|P	.|0.55824	.|0.785	T|T	0.54510|0.54510	-0.8283|-0.8283	5|8	.|0.72032	.|D	.|0.01	.|.	8.7445|8.7445	0.34578|0.34578	0.0:0.2569:0.7431:0.0|0.0:0.2569:0.7431:0.0	.|.	.|127	.|C9J302	.|CD051_HUMAN	V|C	87|127	.|.	.|ENSP00000391404:W127C	G|W	+|+	2|3	0|0	C4orf51|C4orf51	146869785|146869785	0.913000|0.913000	0.31002|0.31002	0.605000|0.605000	0.28930|0.28930	0.217000|0.217000	0.24651|0.24651	1.227000|1.227000	0.32576|0.32576	1.026000|1.026000	0.39733|0.39733	0.585000|0.585000	0.79938|0.79938	GGG|TGG		0.313	C4orf51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080531		5	7	1	0	5.9392e-07	1	6.54524e-07	5	7				
IGLV2-28	28812	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	A	rs199838243	byFrequency	TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr22:23006960C>A	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627																																						ENST00000385099.1																			0																																																			0							g.chr22:23006960C>A																													22.37:g.23006960C>A														0	63	+									RNA	SNP	ENST00000385099.1	37																																																																																						0.627	D86994.2-201	NOVEL	basic	miRNA	miRNA				3	12	1	0	0.004672	1	0.00476015	3	12				
OR5M1	390168	broad.mit.edu	37	11	56380363	56380363	+	Missense_Mutation	SNP	T	T	G			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr11:56380363T>G	ENST00000526538.1	-	1	615	c.616A>C	c.(616-618)Aat>Cat	p.N206H		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	206						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						CTTGAGAGATTAAAGCCTGCA	0.443																																						ENST00000526538.1																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						c.(616-618)Aat>Cat		olfactory receptor, family 5, subfamily M, member 1							83.0	78.0	79.0					11																	56380363		1902	4127	6029	SO:0001583	missense	390168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56380363T>G	AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"""GPCR / Class A : Olfactory receptors"""	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.616A>C	11.37:g.56380363T>G	ENSP00000435416:p.Asn206His						p.N206H	NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN			1	615	-			206					Q6IF60|Q96RB6	Missense_Mutation	SNP	ENST00000526538.1	37	c.616A>C	CCDS53631.1	.	.	.	.	.	.	.	.	.	.	T	10.09	1.255419	0.22965	.	.	ENSG00000255012	ENST00000526538	T	0.00137	8.68	3.71	3.71	0.42584	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00356	0.0011	M	0.71920	2.185	0.09310	N	1	D	0.67145	0.996	D	0.70487	0.969	T	0.50180	-0.8858	9	0.87932	D	0	.	6.4846	0.22081	0.3414:0.0:0.0:0.6586	.	206	Q8NGP8	OR5M1_HUMAN	H	206	ENSP00000435416:N206H	ENSP00000435416:N206H	N	-	1	0	OR5M1	56136939	0.001000	0.12720	0.005000	0.12908	0.508000	0.34012	0.796000	0.26986	1.586000	0.49944	0.232000	0.17820	AAT		0.443	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391610.1	NM_001004740		37	73	0	0	0	1	0	37	73				
ZNF573	126231	broad.mit.edu	37	19	38230198	38230198	+	Missense_Mutation	SNP	C	C	A			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr19:38230198C>A	ENST00000590414.2	-	4	1214	c.1193G>T	c.(1192-1194)gGt>gTt	p.G398V	ZNF573_ENST00000536220.1_Missense_Mutation_p.G310V|ZNF573_ENST00000392138.1_Missense_Mutation_p.G311V|ZNF573_ENST00000357309.3_Missense_Mutation_p.G310V|ZNF573_ENST00000339503.4_Missense_Mutation_p.G340V			Q86YE8	ZN573_HUMAN	zinc finger protein 573	398					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			GAGTTTTGAACCAGTAGTATA	0.378																																						ENST00000339503.4																			0				NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1018-1020)gGt>gTt		zinc finger protein 573							113.0	113.0	113.0					19																	38230198		2203	4300	6503	SO:0001583	missense	126231				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38230198C>A	AK074539	CCDS12508.1, CCDS54260.1, CCDS59381.1	19q13.12	2013-09-20			ENSG00000189144	ENSG00000189144		"""Zinc fingers, C2H2-type"", ""-"""	26420	protein-coding gene	gene with protein product						12477932	Standard	NM_152360		Approved	FLJ30921	uc002ohe.3	Q86YE8	OTTHUMG00000048183	ENST00000590414.2:c.1193G>T	19.37:g.38230198C>A	ENSP00000465020:p.Gly398Val					ZNF573_ENST00000590414.2_Missense_Mutation_p.G398V|ZNF573_ENST00000392138.1_Missense_Mutation_p.G311V|ZNF573_ENST00000357309.3_Missense_Mutation_p.G310V|ZNF573_ENST00000536220.1_Missense_Mutation_p.G310V	p.G340V	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)		8	1520	-			378					B7WPE1|K7EJ45|Q6P1P1|Q7Z7Q3|Q8N2Q1|Q96BM3|Q96NH0	Missense_Mutation	SNP	ENST00000590414.2	37	c.1019G>T	CCDS59381.1	.	.	.	.	.	.	.	.	.	.	C	9.327	1.059654	0.19987	.	.	ENSG00000189144	ENST00000392138;ENST00000536220;ENST00000357309;ENST00000339503;ENST00000427026	T;T;T;T	0.07444	3.19;3.19;3.19;3.19	1.96	0.808	0.18719	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03651	0.0104	N	0.11284	0.12	0.09310	N	1	B;B;B;B	0.11235	0.002;0.002;0.002;0.004	B;B;B;B	0.04013	0.0;0.001;0.0;0.001	T	0.43097	-0.9412	9	0.39692	T	0.17	.	0.8285	0.01126	0.2421:0.3597:0.2383:0.1599	.	311;340;378;310	Q86YE8-4;Q86YE8-3;Q86YE8;Q86YE8-2	.;.;ZN573_HUMAN;.	V	311;310;310;340;310	ENSP00000375983:G311V;ENSP00000440464:G310V;ENSP00000349861:G310V;ENSP00000340171:G340V	ENSP00000340171:G340V	G	-	2	0	ZNF573	42922038	0.000000	0.05858	0.480000	0.27341	0.896000	0.52359	-3.234000	0.00546	0.008000	0.14787	0.404000	0.27445	GGT		0.378	ZNF573-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459773.2	NM_152360		25	139	1	0	7.92952e-12	1	9.11051e-12	25	139				
ZNF780B	163131	broad.mit.edu	37	19	40540948	40540948	+	Silent	SNP	A	A	G	rs562969306		TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr19:40540948A>G	ENST00000434248.1	-	5	1883	c.1818T>C	c.(1816-1818)ttT>ttC	p.F606F	ZNF780B_ENST00000221355.6_Silent_p.F458F	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	606					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CACCAGTATGAAATTTCTGAT	0.418																																						ENST00000434248.1																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(1816-1818)ttT>ttC		zinc finger protein 780B							107.0	112.0	111.0					19																	40540948		2203	4300	6503	SO:0001819	synonymous_variant	163131				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40540948A>G	AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"""Zinc fingers, C2H2-type"", ""-"""	33109	protein-coding gene	gene with protein product			"""zinc finger protein 779"""	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.1818T>C	19.37:g.40540948A>G						ZNF780B_ENST00000221355.6_Silent_p.F458F	p.F606F	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN			5	1883	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		606					B9EH00	Silent	SNP	ENST00000434248.1	37	c.1818T>C	CCDS46077.1																																																																																				0.418	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338466.1	NM_001005851		9	129	0	0	0	1	0	9	129				
SPHKAP	80309	broad.mit.edu	37	2	228846444	228846444	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr2:228846444C>A	ENST00000392056.3	-	12	5138	c.5092G>T	c.(5092-5094)Gaa>Taa	p.E1698*	SPHKAP_ENST00000344657.5_Nonsense_Mutation_p.E1669*	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1698						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TATCCCAGTTCCAAGAGCCAG	0.428																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(5092-5094)Gaa>Taa		SPHK1 interactor, AKAP domain containing							100.0	89.0	93.0					2																	228846444		2203	4300	6503	SO:0001587	stop_gained	80309					cytoplasm	protein binding	g.chr2:228846444C>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.5092G>T	2.37:g.228846444C>A	ENSP00000375909:p.Glu1698*					SPHKAP_ENST00000344657.5_Nonsense_Mutation_p.E1669*	p.E1698*	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	12	5138	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1698					Q68DA3|Q68DR8|Q9C0I5	Nonsense_Mutation	SNP	ENST00000392056.3	37	c.5092G>T	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	44	10.773435	0.99465	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	.	.	.	5.66	5.66	0.87406	.	0.211081	0.48767	D	0.000169	.	.	.	.	.	.	0.46749	D	0.999188	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	18.7499	0.91810	0.0:1.0:0.0:0.0	.	.	.	.	X	1698;1669	.	ENSP00000339886:E1669X	E	-	1	0	SPHKAP	228554688	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.491000	0.60326	2.671000	0.90904	0.655000	0.94253	GAA		0.428	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		7	73	1	0	0.00448238	1	0.00465478	7	73				
TRIM46	80128	broad.mit.edu	37	1	155147951	155147951	+	Silent	SNP	C	C	T	rs149212033		TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr1:155147951C>T	ENST00000334634.4	+	2	153	c.153C>T	c.(151-153)aaC>aaT	p.N51N	TRIM46_ENST00000543729.1_Silent_p.N58N|TRIM46_ENST00000545012.1_Intron|TRIM46_ENST00000468878.1_3'UTR|KRTCAP2_ENST00000490672.1_5'Flank|KRTCAP2_ENST00000295682.4_5'Flank|TRIM46_ENST00000368383.3_Silent_p.N51N|TRIM46_ENST00000392451.2_Silent_p.N51N|TRIM46_ENST00000368382.1_Silent_p.N28N|TRIM46_ENST00000368385.4_Silent_p.N51N|RP11-201K10.3_ENST00000473363.2_Intron	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	51						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GTACCCACAACGTGTGCCAGG	0.607																																						ENST00000392451.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29						c.(151-153)aaC>aaT		tripartite motif containing 46		C		0,4406		0,0,2203	136.0	110.0	119.0		153	-0.8	1.0	1	dbSNP_134	119	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TRIM46	NM_025058.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		51/760	155147951	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80128					intracellular	zinc ion binding	g.chr1:155147951C>T		CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.153C>T	1.37:g.155147951C>T						TRIM46_ENST00000545012.1_Intron|TRIM46_ENST00000543729.1_Silent_p.N58N|TRIM46_ENST00000334634.4_Silent_p.N51N|TRIM46_ENST00000368385.4_Silent_p.N51N|TRIM46_ENST00000368382.1_Silent_p.N28N|TRIM46_ENST00000368383.3_Silent_p.N51N|TRIM46_ENST00000468878.1_3'UTR	p.N51N			Q7Z4K8	TRI46_HUMAN	Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		2	236	+	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		51					A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Silent	SNP	ENST00000334634.4	37	c.153C>T	CCDS1097.1																																																																																				0.607	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1	NM_025058		13	169	0	0	0	1	0	13	169				
CTNNAL1	8727	broad.mit.edu	37	9	111761374	111761374	+	Missense_Mutation	SNP	T	T	C			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr9:111761374T>C	ENST00000325551.4	-	2	390	c.304A>G	c.(304-306)Att>Gtt	p.I102V	CTNNAL1_ENST00000325580.6_Missense_Mutation_p.I102V|CTNNAL1_ENST00000374595.4_Missense_Mutation_p.I102V|CTNNAL1_ENST00000374593.4_Missense_Mutation_p.I102V	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	102					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		ATACAAGCAATATTTATTTCT	0.338																																						ENST00000374595.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25						c.(304-306)Att>Gtt		catenin (cadherin-associated protein), alpha-like 1							118.0	114.0	116.0					9																	111761374		2203	4300	6503	SO:0001583	missense	8727				cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	g.chr9:111761374T>C	AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"""alpha-catulin"", ""alpha2-catulin"""	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.304A>G	9.37:g.111761374T>C	ENSP00000320434:p.Ile102Val					CTNNAL1_ENST00000374593.4_Missense_Mutation_p.I102V|CTNNAL1_ENST00000325551.4_Missense_Mutation_p.I102V|CTNNAL1_ENST00000325580.6_Missense_Mutation_p.I102V	p.I102V			Q9UBT7	CTNL1_HUMAN		STAD - Stomach adenocarcinoma(157;0.0768)	2	383	-			102					B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Missense_Mutation	SNP	ENST00000325551.4	37	c.304A>G	CCDS6775.1	.	.	.	.	.	.	.	.	.	.	T	11.73	1.727274	0.30593	.	.	ENSG00000119326	ENST00000374595;ENST00000325551;ENST00000325580;ENST00000374593	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	6.07	4.94	0.65067	.	0.271016	0.42682	N	0.000680	T	0.28699	0.0711	L	0.51422	1.61	0.31469	N	0.668623	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.08055	0.003;0.002;0.003	T	0.26710	-1.0095	10	0.30078	T	0.28	-8.8526	5.6857	0.17801	0.1496:0.0788:0.0:0.7716	.	102;102;102	B2RBI4;Q9UBT7-2;Q9UBT7	.;.;CTNL1_HUMAN	V	102	ENSP00000363723:I102V;ENSP00000320434:I102V;ENSP00000323351:I102V;ENSP00000363721:I102V	ENSP00000320434:I102V	I	-	1	0	CTNNAL1	110801195	0.944000	0.32072	0.998000	0.56505	0.998000	0.95712	1.468000	0.35332	1.126000	0.42016	0.533000	0.62120	ATT		0.338	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1	NM_003798		42	53	0	0	0	1	0	42	53				
XPNPEP3	63929	broad.mit.edu	37	22	41277810	41277810	+	Missense_Mutation	SNP	C	C	T			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr22:41277810C>T	ENST00000357137.4	+	3	302	c.218C>T	c.(217-219)gCa>gTa	p.A73V	XPNPEP3_ENST00000544094.1_Missense_Mutation_p.A50V|XPNPEP3_ENST00000541156.1_Missense_Mutation_p.A73V|XPNPEP3_ENST00000414396.1_Missense_Mutation_p.A73V	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	73					glomerular filtration (GO:0003094)|protein processing (GO:0016485)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metallopeptidase activity (GO:0008237)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						GTGGAATATGCACTTCGCAGA	0.453																																					Ovarian(145;306 1841 7037 21878 30110)	ENST00000357137.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(217-219)gCa>gTa		X-prolyl aminopeptidase (aminopeptidase P) 3, putative							135.0	116.0	123.0					22																	41277810		2203	4300	6503	SO:0001583	missense	63929				cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity	g.chr22:41277810C>T		CCDS14007.1, CCDS74869.1	22q13.2	2010-07-20			ENSG00000196236	ENSG00000196236			28052	protein-coding gene	gene with protein product		613553				15708373, 20179356	Standard	NM_022098		Approved	APP3, NPHPL1	uc003azh.3	Q9NQH7	OTTHUMG00000151312	ENST00000357137.4:c.218C>T	22.37:g.41277810C>T	ENSP00000349658:p.Ala73Val					XPNPEP3_ENST00000541156.1_Missense_Mutation_p.A73V|XPNPEP3_ENST00000544094.1_Missense_Mutation_p.A50V|XPNPEP3_ENST00000414396.1_Missense_Mutation_p.A73V	p.A73V	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN			3	302	+			73					B2R9G1|B7Z790|B7Z7B2|Q6I9V9|Q8NDA6|Q9BV27|Q9BVH0	Missense_Mutation	SNP	ENST00000357137.4	37	c.218C>T	CCDS14007.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310369	0.60414	.	.	ENSG00000196236	ENST00000541156;ENST00000414396;ENST00000357137;ENST00000544094	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	6.01	6.01	0.97437	Peptidase M24B, X-Pro dipeptidase/aminopeptidase P N-terminal (1);	0.095903	0.64402	D	0.000001	T	0.76793	0.4037	M	0.64630	1.985	0.47276	D	0.999377	B;B	0.34290	0.447;0.163	B;B	0.32090	0.14;0.11	T	0.73043	-0.4107	10	0.30078	T	0.28	.	20.5751	0.99360	0.0:1.0:0.0:0.0	.	73;73	Q9NQH7-5;Q9NQH7	.;XPP3_HUMAN	V	73;73;73;50	ENSP00000443682:A73V;ENSP00000397110:A73V;ENSP00000349658:A73V;ENSP00000441942:A50V	ENSP00000349658:A73V	A	+	2	0	XPNPEP3	39607756	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	5.004000	0.63966	2.869000	0.98440	0.558000	0.71614	GCA		0.453	XPNPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322201.2	NM_022098		4	82	0	0	0	1	0	4	82				
PCDHA10	56139	broad.mit.edu	37	5	140237684	140237684	+	Missense_Mutation	SNP	G	G	A			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr5:140237684G>A	ENST00000307360.5	+	1	2051	c.2051G>A	c.(2050-2052)gGc>gAc	p.G684D	PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	684	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTTCAGTGGGCGTGGCGCCC	0.657																																						ENST00000307360.5																			0				NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(2050-2052)gGc>gAc									21.0	21.0	21.0					5																	140237684		1322	2289	3611	SO:0001583	missense	0							g.chr5:140237684G>A	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.2051G>A	5.37:g.140237684G>A	ENSP00000304234:p.Gly684Asp					PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.G684D	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2051	+								A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.2051G>A	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	G	8.199	0.797637	0.16327	.	.	ENSG00000250120	ENST00000307360	T	0.53206	0.63	3.6	-1.12	0.09808	Cadherin (1);	.	.	.	.	T	0.19248	0.0462	N	0.08118	0	0.09310	N	1	B;B	0.12630	0.002;0.006	B;B	0.17979	0.008;0.02	T	0.23013	-1.0200	9	0.12103	T	0.63	.	1.6478	0.02765	0.1621:0.227:0.3688:0.2421	.	684;684	Q9Y5I2-3;Q9Y5I2	.;PCDAA_HUMAN	D	684	ENSP00000304234:G684D	ENSP00000304234:G684D	G	+	2	0	PCDHA10	140217868	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	0.155000	0.16362	-0.036000	0.13669	0.491000	0.48974	GGC		0.657	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		23	48	0	0	0	1	0	23	48				
NXPE3	91775	broad.mit.edu	37	3	101535763	101535763	+	Silent	SNP	G	G	A			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr3:101535763G>A	ENST00000491511.2	+	7	2003	c.1047G>A	c.(1045-1047)gaG>gaA	p.E349E	NXPE3_ENST00000422132.1_Silent_p.E349E|NXPE3_ENST00000273347.5_Silent_p.E349E|NXPE3_ENST00000477909.1_Silent_p.E349E	NM_001134456.1	NP_001127928.1	Q969Y0	NXPE3_HUMAN	neurexophilin and PC-esterase domain family, member 3	349						extracellular region (GO:0005576)											ACATTACAGAGTGCTTACAAA	0.398																																						ENST00000422132.1																			0											c.(1045-1047)gaG>gaA		neurexophilin and PC-esterase domain family, member 3							192.0	186.0	188.0					3																	101535763		2203	4300	6503	SO:0001819	synonymous_variant	91775							g.chr3:101535763G>A	AK054664	CCDS2945.1	3q12.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000144815	ENSG00000144815			28238	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member C"""	FAM55C		12975309	Standard	NM_001134456		Approved	MGC15606	uc003dvn.3	Q969Y0	OTTHUMG00000159179	ENST00000491511.2:c.1047G>A	3.37:g.101535763G>A						NXPE3_ENST00000491511.1_Silent_p.E349E|NXPE3_ENST00000477909.1_Silent_p.E349E|NXPE3_ENST00000273347.5_Silent_p.E349E	p.E349E							4	1244	+								A8K0X4|D3DN53|Q7Z2S8	Silent	SNP	ENST00000491511.2	37	c.1047G>A	CCDS2945.1																																																																																				0.398	NXPE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353711.2	NM_145037		14	213	0	0	0	1	0	14	213				
CDK10	8558	broad.mit.edu	37	16	89760586	89760586	+	Missense_Mutation	SNP	G	G	A			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr16:89760586G>A	ENST00000353379.7	+	9	657	c.614G>A	c.(613-615)cGa>cAa	p.R205Q	CDK10_ENST00000331006.8_Missense_Mutation_p.R158Q|CDK10_ENST00000505473.1_Missense_Mutation_p.R134Q	NM_001098533.2|NM_001160367.1|NM_052988.4	NP_001092003.2|NP_001153839.1|NP_443714.3	Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	205	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|traversing start control point of mitotic cell cycle (GO:0007089)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		TGTAGGTACCGAGCCCCTGAA	0.637																																						ENST00000331006.8																			0				ovary(1)	1						c.(472-474)cGa>cAa		cyclin-dependent kinase 10							125.0	97.0	106.0					16																	89760586		2198	4300	6498	SO:0001583	missense	8558				negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr16:89760586G>A	L33264	CCDS10984.2, CCDS32514.1, CCDS32514.2	16q24.3	2011-11-08	2007-11-21		ENSG00000185324	ENSG00000185324		"""Cyclin-dependent kinases"""	1770	protein-coding gene	gene with protein product		603464	"""cyclin-dependent kinase (CDC2-like) 10"""			8208557, 8084611	Standard	NM_052988		Approved	PISSLRE	uc010cio.3	Q15131	OTTHUMG00000138049	ENST00000353379.7:c.614G>A	16.37:g.89760586G>A	ENSP00000338673:p.Arg205Gln					CDK10_ENST00000505473.1_Missense_Mutation_p.R134Q|CDK10_ENST00000353379.7_Missense_Mutation_p.R205Q	p.R158Q			Q15131	CDK10_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0276)	8	2214	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	205			Protein kinase.		A8K370|A8K8I6|A8MXU6|B3KQJ3|B7Z420|D3DX82|D3DX83|Q0VGZ7|Q15130|Q6PJC0	Missense_Mutation	SNP	ENST00000353379.7	37	c.473G>A	CCDS10984.2	.	.	.	.	.	.	.	.	.	.	G	31	5.087672	0.94100	.	.	ENSG00000185324	ENST00000331006;ENST00000393082;ENST00000505473;ENST00000353379	T;T;T	0.51325	0.71;0.71;0.71	5.82	5.82	0.92795	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.79423	0.4443	H	0.95539	3.685	0.80722	D	1	D;D;D	0.69078	0.996;0.995;0.997	D;D;D	0.72982	0.979;0.967;0.941	D	0.84937	0.0863	10	0.87932	D	0	-10.2627	19.7523	0.96271	0.0:0.0:1.0:0.0	.	205;134;134	Q15131;Q15131-3;Q15131-4	CDK10_HUMAN;.;.	Q	158;176;134;205	ENSP00000329957:R158Q;ENSP00000424415:R134Q;ENSP00000338673:R205Q	ENSP00000329957:R158Q	R	+	2	0	CDK10	88288087	0.959000	0.32827	0.996000	0.52242	0.506000	0.33950	2.907000	0.48743	2.768000	0.95171	0.650000	0.86243	CGA		0.637	CDK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269925.2			3	24	0	0	0	1	0	3	24				
KCNH4	23415	broad.mit.edu	37	17	40323995	40323995	+	Silent	SNP	G	G	A			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr17:40323995G>A	ENST00000264661.3	-	7	1338	c.1006C>T	c.(1006-1008)Ctg>Ttg	p.L336L	KCNH4_ENST00000607371.1_Silent_p.L336L	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	336					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		aCTGTCTTCAGTAGGTGCACC	0.647																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(1006-1008)Ctg>Ttg		potassium voltage-gated channel, subfamily H (eag-related), member 4							39.0	27.0	31.0					17																	40323995		2200	4298	6498	SO:0001819	synonymous_variant	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40323995G>A	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.1006C>T	17.37:g.40323995G>A						KCNH4_ENST00000607371.1_Silent_p.L336L	p.L336L	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	7	1338	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	336						Silent	SNP	ENST00000264661.3	37	c.1006C>T	CCDS11420.1																																																																																				0.647	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		4	18	0	0	0	1	0	4	18				
CHGB	1114	broad.mit.edu	37	20	5904578	5904578	+	Silent	SNP	C	C	T			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr20:5904578C>T	ENST00000378961.4	+	4	1992	c.1788C>T	c.(1786-1788)gaC>gaT	p.D596D		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	596						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CCAAGCTGGACCTGAAAAGGC	0.517																																						ENST00000378961.4																			0				breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						c.(1786-1788)gaC>gaT		chromogranin B (secretogranin 1)							39.0	39.0	39.0					20																	5904578		2203	4300	6503	SO:0001819	synonymous_variant	1114					extracellular region	hormone activity	g.chr20:5904578C>T		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.1788C>T	20.37:g.5904578C>T							p.D596D	NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN			4	1992	+			596					A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Silent	SNP	ENST00000378961.4	37	c.1788C>T	CCDS13092.1																																																																																				0.517	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		7	64	0	0	0	1	0	7	64				
DISC1	27185	broad.mit.edu	37	1	231931019	231931019	+	Missense_Mutation	SNP	T	T	C			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr1:231931019T>C	ENST00000602281.1	+	7	1719	c.1666T>C	c.(1666-1668)Tca>Cca	p.S556P	DISC1_ENST00000535983.1_Missense_Mutation_p.S556P|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000537876.1_Intron|DISC1_ENST00000366636.4_Missense_Mutation_p.S556P|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000539444.1_Missense_Mutation_p.S556P|DISC1_ENST00000366633.3_Missense_Mutation_p.S556P|DISC1_ENST00000439617.2_Missense_Mutation_p.S556P	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	556	Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Required for localization to punctate cytoplasmic foci.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				CCTCAACTTGTCACTTAAAGA	0.348																																						ENST00000439617.2																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						c.(1666-1668)Tca>Cca		disrupted in schizophrenia 1							84.0	85.0	84.0					1																	231931019		2203	4300	6503	SO:0001583	missense	27185				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding	g.chr1:231931019T>C	AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000602281.1:c.1666T>C	1.37:g.231931019T>C	ENSP00000473425:p.Ser556Pro					DISC1_ENST00000602281.1_Missense_Mutation_p.S556P|DISC1_ENST00000366633.3_Missense_Mutation_p.S556P|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000537876.1_Intron|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000535983.1_Missense_Mutation_p.S556P|DISC1_ENST00000539444.1_Missense_Mutation_p.S556P|DISC1_ENST00000366636.4_Missense_Mutation_p.S556P	p.S556P	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN			7	1719	+		all_cancers(173;0.0208)|Prostate(94;0.0975)	556			Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Required for localization to punctate cytoplasmic foci.		A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Missense_Mutation	SNP	ENST00000602281.1	37	c.1666T>C	CCDS59205.1	.	.	.	.	.	.	.	.	.	.	T	19.03	3.747697	0.69533	.	.	ENSG00000162946	ENST00000439617;ENST00000366637;ENST00000366636;ENST00000366638;ENST00000532576;ENST00000535983;ENST00000366633;ENST00000539444	T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19	4.72	0.784	0.18578	.	0.145939	0.46758	N	0.000262	T	0.81503	0.4836	L	0.59436	1.845	0.80722	D	1	D;P;D;D;D;B;D;D;D;D;D;D;D;D;D;D	0.76494	0.999;0.617;0.999;0.999;0.999;0.368;0.999;0.999;0.999;0.998;0.999;0.996;0.993;0.996;0.993;0.998	D;B;D;D;D;B;D;D;D;D;D;D;P;D;P;D	0.71656	0.962;0.221;0.972;0.952;0.974;0.15;0.931;0.974;0.952;0.916;0.952;0.931;0.827;0.931;0.827;0.942	T	0.78768	-0.2075	10	0.66056	D	0.02	-2.0878	6.7341	0.23399	0.0:0.0808:0.2977:0.6216	.	588;434;588;556;556;434;556;556;556;556;556;556;556;556;556;556	C4P096;C4P094;E2QRA4;C4P0A3;C4P098;F5H1F1;C4P0A4;A6NLH2;C4P095;C4P0B6;C4P0B1;A7E2W8;Q5T409;Q9NRI5-2;Q9NRI5;Q9NRI5-3	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DISC1_HUMAN;.	P	556;556;556;588;434;556;556;556	ENSP00000403888:S556P;ENSP00000355596:S556P;ENSP00000443996:S556P;ENSP00000355593:S556P;ENSP00000440953:S556P	ENSP00000355593:S556P	S	+	1	0	DISC1	229997642	1.000000	0.71417	0.973000	0.42090	0.988000	0.76386	2.319000	0.43788	0.368000	0.24481	0.455000	0.32223	TCA		0.348	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467451.1	NM_018662		6	46	0	0	0	1	0	6	46				
VPRBP	9730	broad.mit.edu	37	3	51457368	51457368	+	Missense_Mutation	SNP	C	C	T			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr3:51457368C>T	ENST00000335891.5	-	7	1718	c.1709G>A	c.(1708-1710)tGc>tAc	p.C570Y				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	1019	Chromo.				B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TGGATTCTTGCAGCGAGCATG	0.488																																						ENST00000335891.5																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(1708-1710)tGc>tAc		Vpr (HIV-1) binding protein							215.0	214.0	214.0					3																	51457368		2028	4175	6203	SO:0001583	missense	9730				interspecies interaction between organisms	cytoplasm|nucleus	protein binding	g.chr3:51457368C>T	AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"""DDB1 and CUL4 associated factors"""	30911	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 1"""					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.1709G>A	3.37:g.51457368C>T	ENSP00000338857:p.Cys570Tyr						p.C570Y			Q9Y4B6	VPRBP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)	7	1718	-			1019					Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Missense_Mutation	SNP	ENST00000335891.5	37	c.1709G>A		.	.	.	.	.	.	.	.	.	.	C	19.12	3.766591	0.69878	.	.	ENSG00000145041	ENST00000423656;ENST00000335891	D;D	0.91631	-2.88;-2.79	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.96140	0.8742	M	0.75085	2.285	0.80722	D	1	D	0.60575	0.988	D	0.77004	0.989	D	0.95911	0.8923	10	0.87932	D	0	-10.084	20.3017	0.98615	0.0:1.0:0.0:0.0	.	1019	Q9Y4B6	VPRBP_HUMAN	Y	590;570	ENSP00000393183:C590Y;ENSP00000338857:C570Y	ENSP00000338857:C570Y	C	-	2	0	VPRBP	51432408	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.161000	0.77505	2.800000	0.96347	0.650000	0.86243	TGC		0.488	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014703		5	164	0	0	0	1	0	5	164				
UNC79	57578	broad.mit.edu	37	14	94088367	94088367	+	Silent	SNP	G	G	A			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr14:94088367G>A	ENST00000393151.2	+	30	4788	c.4788G>A	c.(4786-4788)ccG>ccA	p.P1596P	UNC79_ENST00000553484.1_Silent_p.P1618P|UNC79_ENST00000256339.4_Silent_p.P1419P|UNC79_ENST00000555664.1_Silent_p.P1596P			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1596					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TTGACTCGCCGGTAAAGCCTG	0.478																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(4852-4854)ccG>ccA		unc-79 homolog (C. elegans)							69.0	73.0	72.0					14																	94088367		2203	4300	6503	SO:0001819	synonymous_variant	57578					integral to membrane		g.chr14:94088367G>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.4788G>A	14.37:g.94088367G>A						UNC79_ENST00000256339.4_Silent_p.P1419P|UNC79_ENST00000555664.1_Silent_p.P1596P|UNC79_ENST00000393151.2_Silent_p.P1596P	p.P1618P			Q9P2D8	UNC79_HUMAN			31	5008	+			1596					B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37	c.4854G>A																																																																																					0.478	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		4	127	0	0	0	1	0	4	127				
HPS3	84343	broad.mit.edu	37	3	148885755	148885755	+	Missense_Mutation	SNP	C	C	A			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr3:148885755C>A	ENST00000296051.2	+	16	3012	c.2872C>A	c.(2872-2874)Ctg>Atg	p.L958M	HPS3_ENST00000460120.1_Missense_Mutation_p.L793M	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	958					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TCAACTCTACCTGTCATCATT	0.299									Hermansky-Pudlak syndrome																													ENST00000296051.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34						c.(2872-2874)Ctg>Atg		Hermansky-Pudlak syndrome 3							90.0	94.0	93.0					3																	148885755		2203	4299	6502	SO:0001583	missense	84343	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytoplasm		g.chr3:148885755C>A	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.2872C>A	3.37:g.148885755C>A	ENSP00000296051:p.Leu958Met					HPS3_ENST00000460120.1_Missense_Mutation_p.L793M	p.L958M	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		16	3012	+			958					A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Missense_Mutation	SNP	ENST00000296051.2	37	c.2872C>A	CCDS3140.1	.	.	.	.	.	.	.	.	.	.	C	10.13	1.266215	0.23136	.	.	ENSG00000163755	ENST00000296051;ENST00000460120	T;T	0.69806	-0.43;-0.43	5.65	0.297	0.15762	.	0.198591	0.42548	D	0.000695	T	0.70124	0.3188	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77004	0.989;0.979	T	0.65886	-0.6059	10	0.62326	D	0.03	-6.7179	1.1584	0.01800	0.2098:0.3054:0.1042:0.3806	.	793;958	G5E9V4;Q969F9	.;HPS3_HUMAN	M	958;793	ENSP00000296051:L958M;ENSP00000418230:L793M	ENSP00000296051:L958M	L	+	1	2	HPS3	150368445	0.011000	0.17503	0.219000	0.23793	0.186000	0.23388	-0.609000	0.05635	-0.249000	0.09569	-0.252000	0.11476	CTG		0.299	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383		21	30	1	0	3.8784e-16	1	4.55291e-16	21	30				
NOTCH3	4854	broad.mit.edu	37	19	15278212	15278212	+	Missense_Mutation	SNP	G	G	A			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr19:15278212G>A	ENST00000263388.2	-	29	5285	c.5210C>T	c.(5209-5211)cCa>cTa	p.P1737L		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1737					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CCCCATGCCTGGCTCCTCTAC	0.622																																						ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(5209-5211)cCa>cTa		notch 3							63.0	51.0	55.0					19																	15278212		2203	4300	6503	SO:0001583	missense	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15278212G>A	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.5210C>T	19.37:g.15278212G>A	ENSP00000263388:p.Pro1737Leu						p.P1737L	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		29	5285	-			1737					Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	c.5210C>T	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	G	4.582	0.108147	0.08780	.	.	ENSG00000074181	ENST00000263388	D	0.81499	-1.5	4.79	2.48	0.30137	.	.	.	.	.	T	0.78285	0.4259	L	0.49126	1.545	0.49051	D	0.999748	D	0.55605	0.972	P	0.52267	0.694	T	0.71705	-0.4512	9	0.27082	T	0.32	.	7.3195	0.26519	0.1649:0.0:0.6963:0.1387	.	1737	Q9UM47	NOTC3_HUMAN	L	1737	ENSP00000263388:P1737L	ENSP00000263388:P1737L	P	-	2	0	NOTCH3	15139212	0.997000	0.39634	0.411000	0.26484	0.155000	0.21991	2.438000	0.44837	0.442000	0.26555	-1.595000	0.00837	CCA		0.622	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		25	41	0	0	0	1	0	25	41				
CUL3	8452	broad.mit.edu	37	2	225362501	225362501	+	Missense_Mutation	SNP	A	A	C			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr2:225362501A>C	ENST00000264414.4	-	12	2014	c.1676T>G	c.(1675-1677)cTc>cGc	p.L559R	CUL3_ENST00000409096.1_Missense_Mutation_p.L535R|CUL3_ENST00000344951.4_Missense_Mutation_p.L493R|CUL3_ENST00000409777.1_Missense_Mutation_p.L535R	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	559					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TGTGGCATTGAGATCTGCAGA	0.353																																						ENST00000264414.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46						c.(1675-1677)cTc>cGc		cullin 3							145.0	137.0	140.0					2																	225362501		2203	4300	6503	SO:0001583	missense	8452				cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	g.chr2:225362501A>C	U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.1676T>G	2.37:g.225362501A>C	ENSP00000264414:p.Leu559Arg					CUL3_ENST00000409777.1_Missense_Mutation_p.L535R|CUL3_ENST00000409096.1_Missense_Mutation_p.L535R|CUL3_ENST00000344951.4_Missense_Mutation_p.L493R	p.L559R	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)	12	2014	-		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)	559					A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Missense_Mutation	SNP	ENST00000264414.4	37	c.1676T>G	CCDS2462.1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.947647	0.92593	.	.	ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35	6.16	6.16	0.99307	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	D	0.92227	0.7535	M	0.93375	3.41	0.80722	D	1	D;D;D;D	0.64830	0.987;0.99;0.993;0.994	D;D;D;D	0.69654	0.917;0.932;0.942;0.965	D	0.93914	0.7199	10	0.87932	D	0	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	493;537;535;559	Q13618-3;Q53S54;Q13618-2;Q13618	.;.;.;CUL3_HUMAN	R	559;493;535;535	ENSP00000264414:L559R;ENSP00000343601:L493R;ENSP00000387200:L535R;ENSP00000386525:L535R	ENSP00000264414:L559R	L	-	2	0	CUL3	225070745	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.319000	0.96338	2.367000	0.80283	0.528000	0.53228	CTC		0.353	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			32	63	0	0	0	1	0	32	63				
PHKB	5257	broad.mit.edu	37	16	47694671	47694671	+	Missense_Mutation	SNP	G	G	A			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr16:47694671G>A	ENST00000323584.5	+	22	2161	c.2137G>A	c.(2137-2139)Gat>Aat	p.D713N	PHKB_ENST00000299167.8_Missense_Mutation_p.D713N|PHKB_ENST00000566044.1_Missense_Mutation_p.D706N|PHKB_ENST00000455779.1_Missense_Mutation_p.D706N	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	713					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				ACAGCAGCCGGATGTCAACAT	0.463																																						ENST00000455779.1																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41						c.(2116-2118)Gat>Aat		phosphorylase kinase, beta							104.0	99.0	101.0					16																	47694671		2201	4300	6501	SO:0001583	missense	5257				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity	g.chr16:47694671G>A		CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.2137G>A	16.37:g.47694671G>A	ENSP00000313504:p.Asp713Asn					PHKB_ENST00000299167.8_Missense_Mutation_p.D713N|PHKB_ENST00000566044.1_Missense_Mutation_p.D706N|PHKB_ENST00000323584.5_Missense_Mutation_p.D713N	p.D706N			Q93100	KPBB_HUMAN			23	2301	+		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)	713					Q8N4T5	Missense_Mutation	SNP	ENST00000323584.5	37	c.2116G>A	CCDS10729.1	.	.	.	.	.	.	.	.	.	.	G	9.826	1.187087	0.21870	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D	0.90788	-2.73;-2.73	5.69	3.75	0.43078	Glycoside hydrolase 15-related (1);	0.164881	0.53938	D	0.000044	D	0.85379	0.5683	L	0.35414	1.06	0.38110	D	0.937548	B;B	0.25007	0.029;0.116	B;B	0.29267	0.063;0.1	T	0.81276	-0.1006	10	0.38643	T	0.18	-5.558	12.1172	0.53872	0.1381:0.0:0.8619:0.0	.	713;706	Q93100;Q93100-4	KPBB_HUMAN;.	N	706;706;713	ENSP00000414345:D706N;ENSP00000313504:D713N	ENSP00000299167:D706N	D	+	1	0	PHKB	46252172	1.000000	0.71417	0.001000	0.08648	0.004000	0.04260	6.312000	0.72840	0.772000	0.33382	-0.237000	0.12165	GAT		0.463	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1			66	76	0	0	0	1	0	66	76				
ODF1	4956	broad.mit.edu	37	8	103564150	103564150	+	Silent	SNP	C	C	T	rs150929068		TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr8:103564150C>T	ENST00000285402.3	+	1	351	c.195C>T	c.(193-195)tgC>tgT	p.C65C		NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	65	2 X 5 AA repeats of [RC]-C-L-C-D.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|outer dense fiber (GO:0001520)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			CACGCTCTTGCGGCCTGTGTG	0.507																																						ENST00000285402.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(193-195)tgC>tgT		outer dense fiber of sperm tails 1		C		0,4406		0,0,2203	319.0	257.0	278.0		195	-7.1	0.5	8	dbSNP_134	278	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ODF1	NM_024410.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		65/251	103564150	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4956				cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity	g.chr8:103564150C>T	M93131	CCDS6293.1	8q22	2011-09-05	2002-10-21		ENSG00000155087	ENSG00000155087		"""Heat shock proteins / HSPB"""	8113	protein-coding gene	gene with protein product	"""cancer/testis antigen 133"""	182878	"""outer dense fibre of sperm tails 1"""			8305202	Standard	NM_024410		Approved	ODFPG, ODF27, RT7, HSPB10, CT133	uc003ykt.2	Q14990	OTTHUMG00000164719	ENST00000285402.3:c.195C>T	8.37:g.103564150C>T							p.C65C	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)		1	351	+	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		65			2 X 5 AA repeats of [RC]-C-L-C-D.		Q3SX72	Silent	SNP	ENST00000285402.3	37	c.195C>T	CCDS6293.1																																																																																				0.507	ODF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379884.1			5	368	0	0	0	1	0	5	368				
SIPA1L3	23094	broad.mit.edu	37	19	38633280	38633280	+	Silent	SNP	C	C	A			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr19:38633280C>A	ENST00000222345.6	+	12	3972	c.3463C>A	c.(3463-3465)Cga>Aga	p.R1155R		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1155					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCCTCCCTACCGACAGCCTTC	0.572											OREG0025445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000222345.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(3463-3465)Cga>Aga		signal-induced proliferation-associated 1 like 3							211.0	204.0	206.0					19																	38633280		2203	4300	6503	SO:0001819	synonymous_variant	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38633280C>A	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.3463C>A	19.37:g.38633280C>A			OREG0025445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	879		p.R1155R	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		12	3972	+			1155					Q2TV87	Silent	SNP	ENST00000222345.6	37	c.3463C>A	CCDS33007.1																																																																																				0.572	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		132	225	1	0	1.74412e-57	1	2.09294e-57	132	225				
DDX60	55601	broad.mit.edu	37	4	169173727	169173727	+	Missense_Mutation	SNP	C	C	T			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr4:169173727C>T	ENST00000393743.3	-	27	3929	c.3638G>A	c.(3637-3639)tGt>tAt	p.C1213Y	DDX60_ENST00000505393.1_5'UTR	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1213					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CTTCTCTAGACACTTCACTAG	0.388																																						ENST00000393743.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63						c.(3637-3639)tGt>tAt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							279.0	261.0	267.0					4																	169173727		2203	4300	6503	SO:0001583	missense	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169173727C>T	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.3638G>A	4.37:g.169173727C>T	ENSP00000377344:p.Cys1213Tyr					DDX60_ENST00000505393.1_5'UTR	p.C1213Y	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	27	3929	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	1213					Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	c.3638G>A	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.514132	0.00151	.	.	ENSG00000137628	ENST00000393743	T	0.41065	1.01	5.18	-2.56	0.06268	.	1.478590	0.04143	N	0.319989	T	0.15262	0.0368	N	0.08118	0	0.09310	N	1	B	0.19073	0.033	B	0.08055	0.003	T	0.14559	-1.0468	10	0.02654	T	1	.	0.1206	0.00064	0.259:0.2442:0.1845:0.3123	.	1213	Q8IY21	DDX60_HUMAN	Y	1213	ENSP00000377344:C1213Y	ENSP00000377344:C1213Y	C	-	2	0	DDX60	169410302	0.000000	0.05858	0.002000	0.10522	0.014000	0.08584	-1.297000	0.02759	-0.321000	0.08627	0.563000	0.77884	TGT		0.388	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		65	112	0	0	0	1	0	65	112				
MTAP	4507	broad.mit.edu	37	9	21854677	21854677	+	Silent	SNP	G	G	A			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr9:21854677G>A	ENST00000460874.2	+	6	774	c.549G>A	c.(547-549)aaG>aaA	p.K183K	MTAP_ENST00000380172.4_Silent_p.K166K|MTAP_ENST00000580900.1_Silent_p.K166K|RP11-145E5.5_ENST00000404796.2_Intron					methylthioadenosine phosphorylase									p.0(1)|p.0?(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1)	10		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)		GCCACTCAAAGGGGACAATGG	0.473																																						ENST00000380172.4																			2	Whole gene deletion(2)	p.0(1)|p.0?(1)	lung(2)	central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1)	10						c.(496-498)aaG>aaA		methylthioadenosine phosphorylase	Adenine(DB00173)						73.0	74.0	74.0					9																	21854677		2203	4300	6503	SO:0001819	synonymous_variant	4507				nucleoside metabolic process	cytoplasm	phosphorylase activity|S-methyl-5-thioadenosine phosphorylase activity	g.chr9:21854677G>A	AB062485	CCDS6509.1	9p21	2013-05-29			ENSG00000099810	ENSG00000099810	2.4.2.28		7413	protein-coding gene	gene with protein product	"""S-methyl-5'-thioadenosine phosphorylase"""	156540				11126361	Standard	NM_002451		Approved	MSAP, c86fus	uc003zph.3	Q13126	OTTHUMG00000019690	ENST00000460874.2:c.549G>A	9.37:g.21854677G>A						RP11-145E5.5_ENST00000404796.2_Intron|MTAP_ENST00000460874.2_Silent_p.K183K|MTAP_ENST00000580900.1_Silent_p.K166K	p.K166K	NM_002451.3	NP_002442.2	Q13126	MTAP_HUMAN		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)	6	704	+		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)	166						Silent	SNP	ENST00000460874.2	37	c.498G>A																																																																																					0.473	MTAP-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000051929.2	NM_002451		40	62	0	0	0	1	0	40	62				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	T	C	rs372981463		TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr21:14414844T>C	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		ACTGGGCCTGTGCCAATGGCC	0.433																																						ENST00000507941.1																			0																																																			0							g.chr21:14414844T>C	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414844T>C														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.433	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		3	51	0	0	0	1	0	3	51				
CACNA1B	774	broad.mit.edu	37	9	140809212	140809212	+	Silent	SNP	G	G	A			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr9:140809212G>A	ENST00000371372.1	+	5	874	c.729G>A	c.(727-729)gaG>gaA	p.E243E	CACNA1B_ENST00000371355.4_Silent_p.E243E|CACNA1B_ENST00000371357.1_Silent_p.E243E|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371363.1_Silent_p.E243E|CACNA1B_ENST00000277551.2_Silent_p.E243E	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	243					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TTGGCCTGGAGTTCTACATGG	0.557																																						ENST00000371372.1																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(727-729)gaG>gaA		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						106.0	104.0	105.0					9																	140809212		2129	4250	6379	SO:0001819	synonymous_variant	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140809212G>A	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.729G>A	9.37:g.140809212G>A						CACNA1B_ENST00000371355.4_Silent_p.E243E|CACNA1B_ENST00000371357.1_Silent_p.E243E|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371363.1_Silent_p.E243E|CACNA1B_ENST00000277551.2_Silent_p.E243E	p.E243E	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	5	874	+	all_cancers(76;0.166)		243					B1AQK5	Silent	SNP	ENST00000371372.1	37	c.729G>A	CCDS59522.1																																																																																				0.557	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		6	26	0	0	0	1	0	6	26				
BCRP7	100133163	broad.mit.edu	37	22	18845990	18845990	+	3'UTR	SNP	C	C	T	rs200186747		TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr22:18845990C>T	ENST00000412938.1	+	0	3348																											ACCTCCATCCCGTCCTGCGCA	0.582																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18845990C>T																												ENST00000412938.1:c.*3345C>T	22.37:g.18845990C>T														0	3348	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.582	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			8	42	0	0	0	1	0	8	42				
ZNF606	80095	broad.mit.edu	37	19	58490217	58490217	+	Missense_Mutation	SNP	G	G	C			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr19:58490217G>C	ENST00000341164.4	-	7	2451	c.1831C>G	c.(1831-1833)Ctc>Gtc	p.L611V	ZNF606_ENST00000536132.1_Missense_Mutation_p.L521V	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	611					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TGTTTAGTGAGGGCTGAGCGT	0.433																																						ENST00000341164.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1831-1833)Ctc>Gtc		zinc finger protein 606							92.0	92.0	92.0					19																	58490217		2203	4300	6503	SO:0001583	missense	80095				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58490217G>C	AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"""Zinc fingers, C2H2-type"", ""-"""	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.1831C>G	19.37:g.58490217G>C	ENSP00000343617:p.Leu611Val					ZNF606_ENST00000536132.1_Missense_Mutation_p.L521V	p.L611V	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)	7	2451	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	611					A8KAN2|Q8NE04|Q96JH5	Missense_Mutation	SNP	ENST00000341164.4	37	c.1831C>G	CCDS12968.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.077548	0.36662	.	.	ENSG00000166704	ENST00000341164;ENST00000536132	T;T	0.52983	0.64;0.64	4.8	4.8	0.61643	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.168353	0.28821	N	0.014026	T	0.67795	0.2931	M	0.89658	3.05	0.35401	D	0.791582	D	0.56521	0.976	P	0.57679	0.825	T	0.80200	-0.1481	10	0.87932	D	0	.	11.272	0.49144	0.0889:0.0:0.9111:0.0	.	611	Q8WXB4	ZN606_HUMAN	V	611;521	ENSP00000343617:L611V;ENSP00000445624:L521V	ENSP00000343617:L611V	L	-	1	0	ZNF606	63182029	0.150000	0.22732	1.000000	0.80357	0.997000	0.91878	0.721000	0.25911	2.635000	0.89317	0.561000	0.74099	CTC		0.433	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	NM_025027		44	43	0	0	0	1	0	44	43				
SCN5A	6331	broad.mit.edu	37	3	38651315	38651315	+	Missense_Mutation	SNP	G	G	A	rs199473082		TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr3:38651315G>A	ENST00000333535.4	-	7	993	c.844C>T	c.(844-846)Cgc>Tgc	p.R282C	SCN5A_ENST00000450102.2_Missense_Mutation_p.R282C|SCN5A_ENST00000425664.1_Missense_Mutation_p.R282C|SCN5A_ENST00000443581.1_Missense_Mutation_p.R282C|SCN5A_ENST00000455624.2_Missense_Mutation_p.R282C|SCN5A_ENST00000414099.2_Missense_Mutation_p.R282C|SCN5A_ENST00000423572.2_Missense_Mutation_p.R282C|SCN5A_ENST00000451551.2_Missense_Mutation_p.R282C|SCN5A_ENST00000413689.1_Missense_Mutation_p.R282C|SCN5A_ENST00000449557.2_Missense_Mutation_p.R282C			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	282			R -> H (in BRGDA1). {ECO:0000269|PubMed:11901046}.		AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GTGAAGTTGCGCACGCACTTG	0.587																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(844-846)Cgc>Tgc		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						77.0	82.0	80.0					3																	38651315		2174	4275	6449	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38651315G>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.844C>T	3.37:g.38651315G>A	ENSP00000328968:p.Arg282Cys					SCN5A_ENST00000414099.2_Missense_Mutation_p.R282C|SCN5A_ENST00000451551.2_Missense_Mutation_p.R282C|SCN5A_ENST00000455624.2_Missense_Mutation_p.R282C|SCN5A_ENST00000425664.1_Missense_Mutation_p.R282C|SCN5A_ENST00000423572.2_Missense_Mutation_p.R282C|SCN5A_ENST00000333535.4_Missense_Mutation_p.R282C|SCN5A_ENST00000443581.1_Missense_Mutation_p.R282C|SCN5A_ENST00000450102.2_Missense_Mutation_p.R282C|SCN5A_ENST00000449557.2_Missense_Mutation_p.R282C	p.R282C	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	7	1037	-	Medulloblastoma(35;0.163)		282		R -> H (in BRS1).			A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.844C>T	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916020	0.73098	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557;ENST00000399254	D;D;D;D;D;D;D;D;D;D	0.98684	-5.07;-5.07;-5.07;-5.07;-5.07;-5.07;-5.07;-5.07;-5.07;-5.07	5.34	4.45	0.53987	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98874	0.9619	M	0.74546	2.27	0.53688	D	0.999979	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.98;0.997;0.998;0.98;0.98;0.97;0.966	D	0.99457	1.0942	10	0.56958	D	0.05	.	13.1616	0.59547	0.0:0.0:0.597:0.403	.	282;282;282;282;282;282;282	E9PEF3;Q14524-3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	C	282;282;282;282;282;282;282;282;282;282;92	ENSP00000398962:R282C;ENSP00000398266:R282C;ENSP00000410257:R282C;ENSP00000388797:R282C;ENSP00000397915:R282C;ENSP00000416634:R282C;ENSP00000328968:R282C;ENSP00000399524:R282C;ENSP00000403355:R282C;ENSP00000413996:R282C	ENSP00000328968:R282C	R	-	1	0	SCN5A	38626319	1.000000	0.71417	0.996000	0.52242	0.868000	0.49771	4.252000	0.58785	1.448000	0.47680	0.655000	0.94253	CGC		0.587	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		57	55	0	0	0	1	0	57	55				
FRMPD1	22844	broad.mit.edu	37	9	37740871	37740871	+	Silent	SNP	C	C	G			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr9:37740871C>G	ENST00000539465.1	+	15	2939	c.2346C>G	c.(2344-2346)ggC>ggG	p.G782G	FRMPD1_ENST00000541302.1_Silent_p.G651G|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000536622.1_Silent_p.G604G|FRMPD1_ENST00000377765.3_Silent_p.G782G			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	782						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CTCCCCCAGGCCCCCCGTCAG	0.637																																						ENST00000539465.1																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(2344-2346)ggC>ggG		FERM and PDZ domain containing 1							33.0	34.0	34.0					9																	37740871		2203	4300	6503	SO:0001819	synonymous_variant	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37740871C>G	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.2346C>G	9.37:g.37740871C>G						FRMPD1_ENST00000536622.1_Silent_p.G604G|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000541302.1_Silent_p.G651G|FRMPD1_ENST00000377765.3_Silent_p.G782G	p.G782G			Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	15	2939	+			782					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Silent	SNP	ENST00000539465.1	37	c.2346C>G	CCDS6612.1																																																																																				0.637	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		19	39	0	0	0	1	0	19	39				
ROBO1	6091	broad.mit.edu	37	3	79639042	79639042	+	Missense_Mutation	SNP	G	G	T			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr3:79639042G>T	ENST00000464233.1	-	2	133	c.20C>A	c.(19-21)cCt>cAt	p.P7H		NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	7					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)	p.P7H(2)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GACCAAAAAAGGAACATGTTT	0.383																																						ENST00000464233.1																			2	Substitution - Missense(2)	p.P7H(2)	haematopoietic_and_lymphoid_tissue(2)	breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44						c.(19-21)cCt>cAt		roundabout, axon guidance receptor, homolog 1 (Drosophila)							170.0	165.0	167.0					3																	79639042		1899	4121	6020	SO:0001583	missense	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:79639042G>T	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.20C>A	3.37:g.79639042G>T	ENSP00000420321:p.Pro7His						p.P7H	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	2	133	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	7					B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.20C>A	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	G	7.884	0.730769	0.15507	.	.	ENSG00000169855	ENST00000464233;ENST00000398414	T	0.59772	0.24	5.24	5.24	0.73138	.	0.203965	0.24647	N	0.036748	T	0.40040	0.1101	N	0.08118	0	0.80722	D	1	P	0.44309	0.832	B	0.41466	0.358	T	0.33548	-0.9864	9	.	.	.	.	16.6141	0.84902	0.0:0.0:1.0:0.0	.	7	Q9Y6N7	ROBO1_HUMAN	H	7	ENSP00000420321:P7H	.	P	-	2	0	ROBO1	79721732	1.000000	0.71417	1.000000	0.80357	0.176000	0.22953	4.740000	0.62087	2.449000	0.82847	0.460000	0.39030	CCT		0.383	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		6	152	1	0	8.12818e-05	1	8.77844e-05	6	152				
DLX2	1746	broad.mit.edu	37	2	172967129	172967131	+	In_Frame_Del	DEL	GCT	GCT	-	rs376692475		TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr2:172967129_172967131delGCT	ENST00000234198.4	-	1	497_499	c.136_138delAGC	c.(136-138)agcdel	p.S46del	DLX2_ENST00000466293.2_In_Frame_Del_p.S46del|AC104801.1_ENST00000448117.1_lincRNA	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	distal-less homeobox 2	46	Poly-Ser.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|cartilage development (GO:0051216)|cerebral cortex GABAergic interneuron fate commitment (GO:0021893)|embryonic cranial skeleton morphogenesis (GO:0048701)|hippocampus development (GO:0021766)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb development (GO:0021772)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|subpallium development (GO:0021544)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded RNA binding (GO:0003727)			endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GCTTGTGGAGgctgctgctgctg	0.739																																					GBM(188;775 2993 11256 23072)	ENST00000234198.4																			0				endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11						c.(136-138)del		distal-less homeobox 2				19,76,3319		3,0,13,8,60,1623						4.5	1.0			15	96,156,6524		10,3,73,15,123,3164	no	codingComplex	DLX2	NM_004405.3		13,3,86,23,183,4787	A1A1,A1A2,A1R,A2A2,A2R,RR		3.719,2.7827,3.4053				115,232,9843				SO:0001651	inframe_deletion	1746					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:172967129_172967131delGCT	U51003	CCDS2248.1	2q31.1	2011-06-20	2005-12-22		ENSG00000115844	ENSG00000115844		"""Homeoboxes / ANTP class : NKL subclass"""	2915	protein-coding gene	gene with protein product		126255	"""distal-less homeo box 2"""			1354641	Standard	NM_004405		Approved	TES-1	uc002uhn.3	Q07687	OTTHUMG00000132276	ENST00000234198.4:c.136_138delAGC	2.37:g.172967138_172967140delGCT	ENSP00000234198:p.Ser46del					DLX2_ENST00000466293.2_In_Frame_Del_p.S46del	p.S46del	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		1	497_499	-			46			Poly-Ser.		B4DMK4|B7ZA14	In_Frame_Del	DEL	ENST00000234198.4	37	c.136_138delAGC	CCDS2248.1																																																																																				0.739	DLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255368.3			2	4						2	4	---	---	---	---
CADPS2	93664	broad.mit.edu	37	7	122303546	122303546	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr7:122303546delA	ENST00000449022.2	-	3	550	c.531delT	c.(529-531)tttfs	p.F177fs	CADPS2_ENST00000334010.7_Frame_Shift_Del_p.F177fs|CADPS2_ENST00000412584.2_Frame_Shift_Del_p.F177fs|CADPS2_ENST00000313070.7_Frame_Shift_Del_p.F177fs	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	177					cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TGTTTTTCTTAAATACTTCTC	0.398																																						ENST00000334010.7																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						c.(529-531)ttfs		Ca++-dependent secretion activator 2							65.0	58.0	60.0					7																	122303546		1839	4113	5952	SO:0001589	frameshift_variant	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122303546delA		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.531delT	7.37:g.122303546delA	ENSP00000398481:p.Phe177fs					CADPS2_ENST00000313070.7_Frame_Shift_Del_p.F177fs|CADPS2_ENST00000412584.2_Frame_Shift_Del_p.F177fs|CADPS2_ENST00000449022.2_Frame_Shift_Del_p.F177fs	p.F177fs	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN			3	952	-			177					A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Frame_Shift_Del	DEL	ENST00000449022.2	37	c.531delT	CCDS55158.1																																																																																				0.398	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		14	6						14	6	---	---	---	---
PTGR1	22949	broad.mit.edu	37	9	114345847	114345848	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr9:114345847_114345848delGT	ENST00000407693.2	-	6	661_662	c.399_400delAC	c.(397-402)ctacttfs	p.LL133fs	PTGR1_ENST00000309195.5_Frame_Shift_Del_p.LL133fs|PTGR1_ENST00000538962.1_Frame_Shift_Del_p.LL133fs|PTGR1_ENST00000238248.3_Frame_Shift_Del_p.LL10fs	NM_001146108.1	NP_001139580.1	Q14914	PTGR1_HUMAN	prostaglandin reductase 1	133					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|leukotriene metabolic process (GO:0006691)|lipoxin metabolic process (GO:2001300)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	13-prostaglandin reductase activity (GO:0036132)|15-oxoprostaglandin 13-oxidase activity (GO:0047522)|2-alkenal reductase [NAD(P)] activity (GO:0032440)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						CAGATTTCAAGTAGGCCAAAGT	0.421																																					Ovarian(200;132 2151 7551 19220 46064)	ENST00000407693.2																			0				endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						c.(397-402)ctttfs		prostaglandin reductase 1																																				SO:0001589	frameshift_variant	22949				leukotriene metabolic process	cytoplasm	15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding	g.chr9:114345847_114345848delGT	D49387	CCDS6779.1, CCDS55331.1	9q32	2008-06-04	2008-06-02	2008-06-02	ENSG00000106853	ENSG00000106853	1.3.1.74, 1.3.1.48		18429	protein-coding gene	gene with protein product	"""zinc binding alcohol dehydrogenase domain containing 3"""	601274	"""leukotriene B4 12-hydroxydehydrogenase"""	LTB4DH		8576264, 17449869	Standard	NM_001146109		Approved	ZADH3	uc004bfh.2	Q14914	OTTHUMG00000020493	ENST00000407693.2:c.399_400delAC	9.37:g.114345847_114345848delGT	ENSP00000385763:p.Leu133fs					PTGR1_ENST00000309195.5_Frame_Shift_Del_p.LL133fs|PTGR1_ENST00000238248.3_Frame_Shift_Del_p.LL10fs|PTGR1_ENST00000538962.1_Frame_Shift_Del_p.LL133fs	p.LL133fs	NM_001146108.1	NP_001139580.1	Q14914	PTGR1_HUMAN			6	661_662	-			133					A8K0N2|B4DPK3|F5GY50|Q8IYQ0|Q9H1X6	Frame_Shift_Del	DEL	ENST00000407693.2	37	c.399_400delAC	CCDS6779.1																																																																																				0.421	PTGR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053647.2			33	180						33	180	---	---	---	---
FOXA1	3169	broad.mit.edu	37	14	38061223	38061228	+	In_Frame_Del	DEL	TCTCGA	TCTCGA	-			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr14:38061223_38061228delTCTCGA	ENST00000250448.2	-	2	822_827	c.761_766delTCGAGA	c.(760-768)ttcgagaac>tac	p.254_256FEN>Y	FOXA1_ENST00000540786.1_In_Frame_Del_p.221_223FEN>Y|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	254					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		TAGCAGCCGTTCTCGAACATGTTGCC	0.689																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(760-768)tac>t		forkhead box A1																																				SO:0001651	inframe_deletion	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061223_38061228delTCTCGA	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.761_766delTCGAGA	14.37:g.38061223_38061228delTCTCGA	ENSP00000250448:p.Phe254_Asn256delinsTyr					FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_In_Frame_Del_p.FEN221del	p.FEN254del	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	822_827	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		254					B2R9H6|B7ZAP5|Q9H2A0	In_Frame_Del	DEL	ENST00000250448.2	37	c.761_766delTCGAGA	CCDS9665.1																																																																																				0.689	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			19	26						19	26	---	---	---	---
PHOSPHO1	162466	broad.mit.edu	37	17	47302390	47302392	+	Intron	DEL	AGG	AGG	-	rs146708566		TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr17:47302390_47302392delAGG	ENST00000310544.4	-	3	173				PHOSPHO1_ENST00000514112.1_In_Frame_Del_p.S32del|PHOSPHO1_ENST00000413580.1_In_Frame_Del_p.S32del			Q8TCT1	PHOP1_HUMAN	phosphatase, orphan 1						bone mineralization involved in bone maturation (GO:0035630)|dephosphorylation (GO:0016311)|endochondral ossification (GO:0001958)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of bone mineralization (GO:0030500)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|phosphocholine phosphatase activity (GO:0052731)|phosphoethanolamine phosphatase activity (GO:0052732)|pyrophosphatase activity (GO:0016462)							Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		Choline(DB00122)	ggagagcagcaggaggaggagga	0.7																																						ENST00000413580.1																			0											c.(94-99)tgc>t		phosphatase, orphan 1	Choline(DB00122)		,	46,3118		1,44,1537					,	-2.0	0.2		dbSNP_134	3	213,6201		29,155,3023	no	intron,coding	PHOSPHO1	NM_178500.3,NM_001143804.1	,	30,199,4560	A1A1,A1R,RR		3.3209,1.4539,2.7041	,	,		259,9319				SO:0001627	intron_variant	0				regulation of bone mineralization		metal ion binding|phosphoethanolamine/phosphocholine phosphatase activity	g.chr17:47302390_47302392delAGG	AJ457189	CCDS11547.1, CCDS45726.1	17q21.32	2008-05-02				ENSG00000173868			16815	protein-coding gene	gene with protein product						12464021	Standard	NM_178500		Approved		uc010wlv.1	Q8TCT1		ENST00000310544.4:c.46-24CCT>-	17.37:g.47302399_47302401delAGG						PHOSPHO1_ENST00000514112.1_In_Frame_Del_p.SC32del|PHOSPHO1_ENST00000310544.4_Intron	p.SC32del	NM_001143804.1|NM_178500.3	NP_001137276.1|NP_848595.1	Q8TCT1	PHOP1_HUMAN	Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		3	512_514	-			0					E9PAM0|Q17RU6	In_Frame_Del	DEL	ENST00000310544.4	37	c.95_97delCCT	CCDS11547.1																																																																																				0.700	PHOSPHO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364467.2			2	4						2	4	---	---	---	---
ANKRD20A11P	391267	broad.mit.edu	37	21	15343608	15343609	+	RNA	INS	-	-	A			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr21:15343608_15343609insA	ENST00000344693.5	-	0	736				RNU6-954P_ENST00000411355.1_RNA	NR_027270.1				ankyrin repeat domain 20 family, member A11, pseudogene																		TAAAACAGCAGAAAAAATTAAT	0.272																																						ENST00000344693.5																			0																																																			0							g.chr21:15343608_15343609insA			21q11.2	2011-11-23			ENSG00000215559	ENSG00000215559			42024	pseudogene	pseudogene			"""chromosome 21 open reading frame 81"""	C21orf81			Standard	NR_027270		Approved		uc002yjj.4		OTTHUMG00000074237		21.37:g.15343614_15343614dupA								NR_027270.1						0	736	-									RNA	INS	ENST00000344693.5	37																																																																																						0.272	ANKRD20A11P-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157750.1			7	98						7	98	---	---	---	---
