#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_IsAdjacentToRepeatRegion	i_IsMicroSat	i_MUTSIG_Published_Results	i_Mutation_Status	i_NumberOfSatRepeats	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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_is_in_m2pon	i_refseq_mrna_id	i_secondary_variant_classification	i_site
PNLIP	5406	broad.mit.edu	37	10	118318720	118318721	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr10:118318720_118318721insA	ENST00000369221.2	+	10	1013_1014	c.985_986insA	c.(985-987)gatfs	p.D329fs		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	329					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	TCACTATGCTGATAGATATCCT	0.401																																						ENST00000369221.2		NA																	0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43						c.(985-987)gatfs		pancreatic lipase	Bentiromide(DB00522)|Orlistat(DB01083)																																			SO:0001589	frameshift_variant	5406				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	g.chr10:118318720_118318721insA	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.986dupA	10.37:g.118318721_118318721dupA	ENSP00000358223:p.Asp329fs	True	False		Somatic	1					p.D329fs	NM_000936.2	NP_000927.1	WXS	Illumina HiSeq	Phase_I	P16233	LIPP_HUMAN		all cancers(201;0.0131)	10	1013_1014	+			329					Q5VSQ2	Frame_Shift_Ins	INS	ENST00000369221.2	37	c.985_986insA	CCDS7594.1																																																																																				0.401	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	0	NM_000936		10:118318720
INPP5F	22876	broad.mit.edu	37	10	121551520	121551521	+	Frame_Shift_Ins	INS	-	-	GAGG			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr10:121551520_121551521insGAGG	ENST00000361976.2	+	5	750_751	c.584_585insGAGG	c.(583-588)gagaggfs	p.-196fs	INPP5F_ENST00000369083.3_Frame_Shift_Ins_p.-196fs|INPP5F_ENST00000369081.1_Frame_Shift_Ins_p.-100fs	NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F						cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		AGCACTGGGGAGAGGGACGGTC	0.5																																						ENST00000361976.2		NA																	0				breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.(583-588)gagaggfs		inositol polyphosphate-5-phosphatase F																																				SO:0001589	frameshift_variant	22876						phosphoric ester hydrolase activity	g.chr10:121551520_121551521insGAGG	AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.585_588dupGAGG	10.37:g.121551521_121551524dupGAGG	ENSP00000354519:p.Arg196fs	False	False		Somatic	1				INPP5F_ENST00000369081.1_Frame_Shift_Ins_p.-100fs|INPP5F_ENST00000369083.3_Frame_Shift_Ins_p.-196fs	p.-196fs	NM_014937.3	NP_055752.1	WXS	Illumina HiSeq	Phase_I	Q9Y2H2	SAC2_HUMAN		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)	5	750_751	+		Lung NSC(174;0.109)|all_lung(145;0.142)	NA					A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Frame_Shift_Ins	INS	ENST00000361976.2	37	c.584_585insGAGG	CCDS7616.1																																																																																				0.500	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050679.1	0	NM_014937		10:121551520
NBPF15	284565	broad.mit.edu	37	1	148753330	148753330	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:148753330delT	ENST00000417839.1	+	12	1537	c.1347delT	c.(1345-1347)gatfs	p.D449fs		NM_001102663.1	NP_001096133	Q5SXJ2	NBPFG_HUMAN		449	NBPF 4. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4	all_hematologic(923;0.032)					CTCCTTCAGATTATCTTGAAC	0.493																																						ENST00000417839.1		NA																	0				breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4						c.(1345-1347)gatfs		neuroblastoma breakpoint family, member 16							1.0	1.0	1.0					1																	148753330		531	579	1110	SO:0001589	frameshift_variant	728936							g.chr1:148753330delT																												ENST00000417839.1:c.1347delT	1.37:g.148753330delT	ENSP00000395369:p.Asp449fs	False	False		Somatic	2					p.D449fs	NM_001102663.1	NP_001096133.1	WXS	Illumina HiSeq	Phase_I					12	1537	+	all_hematologic(923;0.032)		NA					A8MPT6	Frame_Shift_Del	DEL	ENST00000417839.1	37	c.1347delT	CCDS41384.1																																																																																				0.493	NBPF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097693.1	0			1:148753330
RPRD2	23248	broad.mit.edu	37	1	150443776	150443776	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:150443776delT	ENST00000369068.4	+	11	2356	c.2352delT	c.(2350-2352)aatfs	p.N784fs	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000401000.4_Frame_Shift_Del_p.N758fs|RPRD2_ENST00000539519.1_Frame_Shift_Del_p.N758fs	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	784	Ser-rich.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AGCTCTCCAATTCTGTATCTA	0.507																																						ENST00000401000.4		NA																	0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(2272-2274)aatfs		regulation of nuclear pre-mRNA domain containing 2							85.0	79.0	81.0					1																	150443776		1887	4110	5997	SO:0001589	frameshift_variant	23248						protein binding	g.chr1:150443776delT	BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.2352delT	1.37:g.150443776delT	ENSP00000358064:p.Asn784fs	False	False		Somatic	2				RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000539519.1_Frame_Shift_Del_p.N758fs|RPRD2_ENST00000369068.4_Frame_Shift_Del_p.N784fs	p.N758fs			WXS	Illumina HiSeq	Phase_I	Q5VT52	RPRD2_HUMAN			10	2339	+			784			Ser-rich.		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Frame_Shift_Del	DEL	ENST00000369068.4	37	c.2274delT	CCDS44216.1																																																																																				0.507	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	0	NM_015203		1:150443776
OGFOD1	55239	broad.mit.edu	37	16	56509440	56509441	+	Frame_Shift_Ins	INS	-	-	GTTTTTTT	rs147207036		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr16:56509440_56509441insGTTTTTTT	ENST00000566157.1	+	12	1553_1554	c.1430_1431insGTTTTTTT	c.(1429-1434)ggttttfs	p.-478fs	OGFOD1_ENST00000568397.1_Frame_Shift_Ins_p.-435fs	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1						cell proliferation (GO:0008283)|peptidyl-proline hydroxylation (GO:0019511)|protein hydroxylation (GO:0018126)|regulation of translational termination (GO:0006449)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|peptidyl-proline 3-dioxygenase activity (GO:0031544)|peptidyl-proline dioxygenase activity (GO:0031543)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	GAATATGGCGGTTTTACTTCTT	0.366																																						ENST00000566157.1		NA																	0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(1429-1434)ggttttfs		2-oxoglutarate and iron-dependent oxygenase domain containing 1	Vitamin C(DB00126)																																			SO:0001589	frameshift_variant	55239						iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:56509440_56509441insGTTTTTTT	BC032919	CCDS10761.2	16q12.2	2010-11-23			ENSG00000087263	ENSG00000087263			25585	protein-coding gene	gene with protein product	"""TPA1, termination and polyadenylation 1, homolog (S. cerevisiae)"""	615857				10997877	Standard	NM_018233		Approved	KIAA1612, FLJ10826, TPA1	uc002ejb.3	Q8N543	OTTHUMG00000133237	Exception_encountered	16.37:g.56509440_56509441insGTTTTTTT	ENSP00000457258:p.Phe478fs	True	False		Somatic	0				OGFOD1_ENST00000568397.1_Frame_Shift_Ins_p.-435fs	p.-478fs	NM_018233.3	NP_060703.3	WXS	Illumina HiSeq	Phase_I	Q8N543	OGFD1_HUMAN			12	1553_1554	+			NA					H3BUQ2|Q9H7U5|Q9H9J9|Q9HA87|Q9HCG0|Q9NVB6	Frame_Shift_Ins	INS	ENST00000566157.1	37	c.1430_1431insGTTTTTTT	CCDS10761.2																																																																																				0.366	OGFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256976.3	0	NM_018233		16:56509440
VEZF1	7716	broad.mit.edu	37	17	56060674	56060674	+	Frame_Shift_Del	DEL	A	A	-	rs532205407		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr17:56060674delA	ENST00000581208.1	-	2	154	c.114delT	c.(112-114)cctfs	p.P38fs	VEZF1_ENST00000584396.1_Frame_Shift_Del_p.P29fs	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	38					angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						GTTTCTGATCAGGGGGCTCCA	0.473																																						ENST00000584396.1		NA																	0				breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						c.(85-87)cctfs		vascular endothelial zinc finger 1							96.0	104.0	101.0					17																	56060674		2203	4300	6503	SO:0001589	frameshift_variant	7716				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr17:56060674delA	D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"""Zinc fingers, C2H2-type"""	12949	protein-coding gene	gene with protein product		606747	"""zinc finger protein 161"""	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.114delT	17.37:g.56060674delA	ENSP00000462337:p.Pro38fs	True	False		Somatic	1				VEZF1_ENST00000581208.1_Frame_Shift_Del_p.P38fs	p.P29fs			WXS	Illumina HiSeq	Phase_I	Q14119	VEZF1_HUMAN			2	175	-			38						Frame_Shift_Del	DEL	ENST00000581208.1	37	c.87delT	CCDS32687.1																																																																																				0.473	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1	0			17:56060674
RSPH6A	81492	broad.mit.edu	37	19	46299167	46299168	+	In_Frame_Ins	INS	-	-	CCTCCTCCTCCTCGC	rs372105700|rs557359374	byFrequency	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:46299167_46299168insCCTCCTCCTCCTCGC	ENST00000221538.3	-	6	2255_2256	c.2113_2114insGCGAGGAGGAGGAGG	c.(2113-2115)gag>gGCGAGGAGGAGGAGGag	p.704_705insGEEEE	RSPH6A_ENST00000597055.1_3'UTR|RSPH6A_ENST00000600188.1_In_Frame_Ins_p.440_441insGEEEE	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	704	Glu-rich.					intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						ctcctcgccctcctcctcctcc	0.589																																						ENST00000221538.3		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						c.(2113-2115)gag>gGCGAGGAGGAGGAGGag		radial spoke head 6 homolog A (Chlamydomonas)																																				SO:0001652	inframe_insertion	81492					intracellular		g.chr19:46299167_46299168insCCTCCTCCTCCTCGC	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.2113_2114insGCGAGGAGGAGGAGG	19.37:g.46299167_46299168insCCTCCTCCTCCTCGC	ENSP00000221538:p.Glu704_Glu705insGlyGluGluGluGlu	True	False		Somatic	0				RSPH6A_ENST00000597055.1_3'UTR|RSPH6A_ENST00000600188.1_In_Frame_Ins_p.440_441insGEEEE	p.704_705insGEEEE	NM_030785.3	NP_110412.1	WXS	Illumina HiSeq	Phase_I	Q9H0K4	RSH6A_HUMAN			6	2255_2256	-			704			Glu-rich.		Q53FE2|Q6PEZ9	In_Frame_Ins	INS	ENST00000221538.3	37	c.2113_2114insGCGAGGAGGAGGAGG	CCDS12675.1																																																																																				0.589	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1	0			19:46299167
TRPC4AP	26133	broad.mit.edu	37	20	33588844	33588844	+	IGR	DEL	G	G	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr20:33588844delG	ENST00000252015.2	-	0	3226				MYH7B_ENST00000262873.7_Frame_Shift_Del_p.L1828fs			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein						calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GTGCACACCTGGAACGGATGA	0.652																																						ENST00000262873.7		NA																	0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(5482-5484)ctgfs		myosin, heavy chain 7B, cardiac muscle, beta							57.0	69.0	65.0					20																	33588844		2201	4299	6500	SO:0001628	intergenic_variant	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33588844delG	AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 158"""	608430	"""chromosome 20 open reading frame 188"""	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319		20.37:g.33588844delG		False	False		Somatic	2					p.L1828fs	NM_020884.3	NP_065935.2	WXS	Illumina HiSeq	Phase_I	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		39	5576	+			1786					E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Frame_Shift_Del	DEL	ENST00000252015.2	37	c.5484delG	CCDS13246.1																																																																																				0.652	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	0	NM_015638		20:33588844
KDM6A	7403	broad.mit.edu	37	X	44969494	44969503	+	Splice_Site	DEL	AGTAAGTCAA	AGTAAGTCAA	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	AGTAAGTCAA	AGTAAGTCAA	-	-	AGTAAGTCAA	AGTAAGTCAA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:44969494_44969503delAGTAAGTCAA	ENST00000377967.4	+	28	4217	c.4176delAGTAAGTCAA	c.(4174-4176)tta>tt	p.L1392fs	KDM6A_ENST00000536777.1_Splice_Site_p.L1347fs|KDM6A_ENST00000479423.1_3'UTR|KDM6A_ENST00000382899.4_Splice_Site_p.L1399fs|KDM6A_ENST00000543216.1_Splice_Site_p.L1313fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1392					canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AATTTACATTAGTAAGTCAAATCAACATGT	0.376			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4		NA		Rec	yes		X	Xp11.2	7403	"""D, N, F, S"""	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			"""renal, oesophageal SCC, MM"""		6	Whole gene deletion(6)	p.0?(6)	oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.(4174-4176)tta>tt		lysine (K)-specific demethylase 6A																																				SO:0001630	splice_region_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44969494_44969503delAGTAAGTCAA	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.4176+1AGTAAGTCAA>-	X.37:g.44969494_44969503delAGTAAGTCAA		False	False		Somatic	1				KDM6A_ENST00000543216.1_Splice_Site_p.L1313fs|KDM6A_ENST00000536777.1_Splice_Site_p.L1347fs|KDM6A_ENST00000382899.4_Splice_Site_p.L1399fs|KDM6A_ENST00000479423.1_3'UTR	p.L1392fs	NM_021140.2	NP_066963.2	WXS	Illumina HiSeq	Phase_I	O15550	KDM6A_HUMAN			28	4217	+			1392					Q52LL9|Q5JVQ7	Splice_Site	DEL	ENST00000377967.4	37	c.4176delAGTAAGTCAA	CCDS14265.1																																																																																				0.376	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	0	NM_021140	Frame_Shift_Del	X:44969494
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs376362448|rs2622736	byFrequency	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	TCG	TCG	-	-	TCG	TCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr3:137880741_137880743delTCG	ENST00000260803.4	-	8	1776_1778	c.1623_1625delCGA	c.(1621-1626)gacgat>gat	p.541_542DD>D	DBR1_ENST00000505015.2_In_Frame_Del_p.307_308DD>D	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	541					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394																																						ENST00000260803.4		NA																	0				NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						c.(1621-1626)gacgat>gat		debranching RNA lariats 1																																				SO:0001651	inframe_deletion	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137880741_137880743delTCG	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.1623_1625delCGA	3.37:g.137880741_137880743delTCG	ENSP00000260803:p.Asp542del	False	False		Somatic	1				DBR1_ENST00000505015.2_In_Frame_Del_p.307_308DD>D	p.541_542DD>D	NM_016216.3	NP_057300.2	WXS	Illumina HiSeq	Phase_I	Q9UK59	DBR1_HUMAN			8	1776_1778	-			541					Q96GH0|Q9NXQ6	In_Frame_Del	DEL	ENST00000260803.4	37	c.1623_1625delCGA	CCDS33863.1																																																																																				0.394	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1	0			3:137880741
BCLAF1	9774	broad.mit.edu	37	6	136590752	136590753	+	Splice_Site	INS	-	-	TTTG	rs79318021		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr6:136590752_136590753insTTTG	ENST00000531224.1	-	9	2296		c.e9-2		BCLAF1_ENST00000392348.2_Splice_Site|BCLAF1_ENST00000031135.9_5'Flank|BCLAF1_ENST00000530767.1_Splice_Site|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000353331.4_Splice_Site|BCLAF1_ENST00000527536.1_Splice_Site|BCLAF1_ENST00000527759.1_Splice_Site	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1						apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTTATCTCCCTATAAAAGACAG	0.356																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1		NA																	0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.e9-2		BCL2-associated transcription factor 1																																				SO:0001630	splice_region_variant	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136590752_136590753insTTTG	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.2044-2->CAAA	6.37:g.136590752_136590753insTTTG		False	False		Somatic	0				BCLAF1_ENST00000392348.2_Splice_Site|BCLAF1_ENST00000527536.1_Splice_Site|BCLAF1_ENST00000353331.4_Splice_Site|BCLAF1_ENST00000527759.1_Splice_Site|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000530767.1_Splice_Site		NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	WXS	Illumina HiSeq	Phase_I	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	9	2296	-	Colorectal(23;0.24)		NA					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Splice_Site	INS	ENST00000531224.1	37		CCDS5177.1																																																																																				0.356	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	0	NM_014739	Intron	6:136590752
TRIM36	55521	broad.mit.edu	37	5	114506859	114506859	+	Intron	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr5:114506859C>T	ENST00000282369.3	-	2	185				TRIM36_ENST00000515104.1_5'Flank|TRIM36_ENST00000514154.1_Intron|TRIM36_ENST00000513154.1_5'Flank|TRIM36_ENST00000379618.2_Missense_Mutation_p.A42T	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36						acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		GTCGCTGTGGCAAGTTCCGTC	0.473																																						ENST00000379618.2		NA																	0				breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37						c.(124-126)Gcc>Acc		tripartite motif containing 36							161.0	171.0	168.0					5																	114506859		2202	4300	6502	SO:0001627	intron_variant	55521					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	g.chr5:114506859C>T	AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16280	protein-coding gene	gene with protein product	"""zinc-binding protein Rbcc728"", ""tripartite motif protein 36"", ""RING finger protein 98"""	609317	"""tripartite motif-containing 36"""			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.64-7410G>A	5.37:g.114506859C>T		False	False		Somatic	0				TRIM36_ENST00000282369.3_Intron|TRIM36_ENST00000514154.1_Intron	p.A42T	NM_001017397.1	NP_001017397.1	WXS	Illumina HiSeq	Phase_I	Q9NQ86	TRI36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)	2	632	-		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)	0					A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	ENST00000282369.3	37	c.124G>A	CCDS4115.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.874607	0.51695	.	.	ENSG00000152503	ENST00000379618	.	.	.	2.72	-0.427	0.12310	.	.	.	.	.	T	0.27900	0.0687	.	.	.	0.09310	N	1	B	0.16396	0.017	B	0.11329	0.006	T	0.27400	-1.0075	7	0.87932	D	0	.	4.467	0.11694	0.2814:0.5796:0.0:0.139	.	42	Q0P5Z9	.	T	42	.	ENSP00000368938:A42T	A	-	1	0	TRIM36	114534758	0.000000	0.05858	0.001000	0.08648	0.816000	0.46133	0.007000	0.13174	-0.114000	0.11936	0.585000	0.79938	GCC		0.473	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	0	NM_018700		5:114506859
STAB1	23166	broad.mit.edu	37	3	52554552	52554552	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr3:52554552G>A	ENST00000321725.6	+	53	5712	c.5636G>A	c.(5635-5637)cGg>cAg	p.R1879Q		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1879					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TTTGAGACCCGGCCCCTGCGA	0.652																																						ENST00000321725.6		NA																	0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(5635-5637)cGg>cAg		stabilin 1							45.0	44.0	44.0					3																	52554552		2202	4300	6502	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52554552G>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.5636G>A	3.37:g.52554552G>A	ENSP00000312946:p.Arg1879Gln	True	False		Somatic	0					p.R1879Q	NM_015136.2	NP_055951.2	WXS	Illumina HiSeq	Phase_I	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	53	5712	+			1879					A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.5636G>A	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	7.127	0.579134	0.13686	.	.	ENSG00000010327	ENST00000321725	D	0.84442	-1.85	5.58	-3.3	0.05003	.	0.623306	0.16047	N	0.232123	T	0.56863	0.2014	N	0.03608	-0.345	0.09310	N	1	B	0.14012	0.009	B	0.06405	0.002	T	0.48603	-0.9021	10	0.25751	T	0.34	.	1.1024	0.01687	0.4049:0.1113:0.1451:0.3386	.	1879	Q9NY15	STAB1_HUMAN	Q	1879	ENSP00000312946:R1879Q	ENSP00000312946:R1879Q	R	+	2	0	STAB1	52529592	0.000000	0.05858	0.001000	0.08648	0.022000	0.10575	0.111000	0.15458	-0.269000	0.09298	-0.136000	0.14681	CGG		0.652	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	0	NM_015136		3:52554552
GDPD4	220032	broad.mit.edu	37	11	76982196	76982196	+	Missense_Mutation	SNP	C	C	T	rs367777591		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr11:76982196C>T	ENST00000376217.2	-	6	629	c.379G>A	c.(379-381)Gtg>Atg	p.V127M	GDPD4_ENST00000315938.4_Missense_Mutation_p.V127M|GDPD4_ENST00000527489.1_5'Flank			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	127					glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						AAACATGCCACGTAGAAGGCC	0.483																																						ENST00000315938.4		NA																	0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						c.(379-381)Gtg>Atg		glycerophosphodiester phosphodiesterase domain containing 4		C	MET/VAL	0,4400		0,0,2200	94.0	83.0	87.0		379	-2.0	0.0	11		87	1,8583	1.2+/-3.3	0,1,4291	no	missense	GDPD4	NM_182833.1	21	0,1,6491	TT,TC,CC		0.0116,0.0,0.0077	benign	127/521	76982196	1,12983	2200	4292	6492	SO:0001583	missense	220032				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr11:76982196C>T	AY326450	CCDS8249.1	11q13.5	2008-02-05			ENSG00000178795	ENSG00000178795			24849	protein-coding gene	gene with protein product							Standard	NM_182833		Approved	GDE6	uc001oyf.3	Q6W3E5	OTTHUMG00000165136	ENST00000376217.2:c.379G>A	11.37:g.76982196C>T	ENSP00000365390:p.Val127Met	False	False		Somatic	0				GDPD4_ENST00000376217.2_Missense_Mutation_p.V127M	p.V127M	NM_182833.1	NP_878253.1	WXS	Illumina HiSeq	Phase_I	Q6W3E5	GDPD4_HUMAN			6	629	-			127					Q7Z5B0	Missense_Mutation	SNP	ENST00000376217.2	37	c.379G>A		.	.	.	.	.	.	.	.	.	.	C	2.897	-0.228315	0.06022	0.0	1.16E-4	ENSG00000178795	ENST00000376217;ENST00000315938	T;T	0.16073	2.37;2.43	4.55	-2.0	0.07433	.	0.670270	0.15204	N	0.274867	T	0.07728	0.0194	L	0.29908	0.895	0.09310	N	1	P	0.38167	0.621	B	0.26969	0.075	T	0.21109	-1.0255	10	0.39692	T	0.17	-0.5584	5.3776	0.16174	0.5872:0.1974:0.0:0.2154	.	127	Q6W3E5-2	.	M	127	ENSP00000365390:V127M;ENSP00000320815:V127M	ENSP00000320815:V127M	V	-	1	0	GDPD4	76659844	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.182000	0.09726	-0.554000	0.06150	-0.500000	0.04577	GTG		0.483	GDPD4-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382075.1	0	NM_182833		11:76982196
RAD54L	8438	broad.mit.edu	37	1	46726266	46726266	+	Missense_Mutation	SNP	C	C	T	rs149141765		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:46726266C>T	ENST00000371975.4	+	6	1134	c.460C>T	c.(460-462)Cgg>Tgg	p.R154W	RAD54L_ENST00000442598.1_Missense_Mutation_p.R154W	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	154					chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.R154W(1)		breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		TAAGGTTTTGCGGCCTCATCA	0.537								Direct reversal of damage;Homologous recombination					C|||	1	0.000199681	0.0	0.0	5008	,	,		22956	0.001		0.0	False		,,,				2504	0.0					ENST00000371975.4		NA																	1	Substitution - Missense(1)	p.R154W(1)	cervix(1)	breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25						c.(460-462)Cgg>Tgg	Direct reversal of damage;Homologous recombination	RAD54-like (S. cerevisiae)		C	TRP/ARG,TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	139.0	128.0	132.0		460,460	3.8	1.0	1	dbSNP_134	132	0,8600		0,0,4300	no	missense,missense	RAD54L	NM_001142548.1,NM_003579.3	101,101	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging	154/748,154/748	46726266	2,13004	2203	4300	6503	SO:0001583	missense	8438				meiosis	nucleus	ATP binding|DNA binding|helicase activity	g.chr1:46726266C>T	X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"""RAD54 (S.cerevisiae)-like"""			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.460C>T	1.37:g.46726266C>T	ENSP00000361043:p.Arg154Trp	False	False		Somatic	0				RAD54L_ENST00000442598.1_Missense_Mutation_p.R154W	p.R154W	NM_003579.3	NP_003570.2	WXS	Illumina HiSeq	Phase_I	Q92698	RAD54_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)	6	1134	+	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)	154					Q5TE31|Q6IUY3	Missense_Mutation	SNP	ENST00000371975.4	37	c.460C>T	CCDS532.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.614125	0.66672	4.54E-4	0.0	ENSG00000085999	ENST00000442598;ENST00000371975	D;D	0.95205	-3.64;-3.64	5.75	3.8	0.43715	DEAD-like helicase (1);	0.000000	0.85682	D	0.000000	D	0.98327	0.9445	H	0.98446	4.235	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98550	1.0636	10	0.87932	D	0	-18.6346	13.7348	0.62811	0.4359:0.5641:0.0:0.0	.	154	Q92698	RAD54_HUMAN	W	154	ENSP00000396113:R154W;ENSP00000361043:R154W	ENSP00000361043:R154W	R	+	1	2	RAD54L	46498853	0.999000	0.42202	0.996000	0.52242	0.998000	0.95712	1.055000	0.30467	0.698000	0.31739	0.655000	0.94253	CGG		0.537	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	0	NM_003579		1:46726266
NEK10	152110	broad.mit.edu	37	3	27385769	27385769	+	Missense_Mutation	SNP	A	A	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr3:27385769A>T	ENST00000429845.2	-	6	718	c.356T>A	c.(355-357)aTa>aAa	p.I119K	NEK10_ENST00000341435.5_Missense_Mutation_p.I119K			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	119					positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTACCTGCTTATGAGTCTATT	0.368																																						ENST00000429845.2		NA																	0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(355-357)aTa>aAa		NIMA-related kinase 10							96.0	80.0	85.0					3																	27385769		1566	3579	5145	SO:0001583	missense	152110						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr3:27385769A>T	AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)- related kinase 10"""			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.356T>A	3.37:g.27385769A>T	ENSP00000395849:p.Ile119Lys	False	False		Somatic	0				NEK10_ENST00000341435.5_Missense_Mutation_p.I119K	p.I119K			WXS	Illumina HiSeq	Phase_I	Q6ZWH5	NEK10_HUMAN			6	718	-			119					A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Missense_Mutation	SNP	ENST00000429845.2	37	c.356T>A		.	.	.	.	.	.	.	.	.	.	A	14.38	2.516764	0.44763	.	.	ENSG00000163491	ENST00000341435;ENST00000396636;ENST00000435750	T;T	0.69806	-0.43;1.43	5.77	4.6	0.57074	.	0.321330	0.34362	N	0.004032	T	0.43322	0.1242	N	0.08118	0	0.80722	D	1	B	0.27068	0.167	B	0.23275	0.045	T	0.39165	-0.9627	10	0.59425	D	0.04	.	7.8361	0.29371	0.7204:0.1429:0.0:0.1367	.	119	Q6ZWH5	NEK10_HUMAN	K	119	ENSP00000343847:I119K;ENSP00000395338:I119K	ENSP00000343847:I119K	I	-	2	0	NEK10	27360773	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	1.392000	0.34486	1.093000	0.41377	0.533000	0.62120	ATA		0.368	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	0	NM_152534		3:27385769
RERE	473	broad.mit.edu	37	1	8418382	8418382	+	Missense_Mutation	SNP	G	G	A	rs368040659		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:8418382G>A	ENST00000337907.3	-	21	4847	c.4213C>T	c.(4213-4215)Cgc>Tgc	p.R1405C	RERE_ENST00000476556.1_Missense_Mutation_p.R851C|RERE_ENST00000400908.2_Missense_Mutation_p.R1405C|RERE_ENST00000377464.1_Missense_Mutation_p.R1137C|RERE_ENST00000400907.2_Intron	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1405					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GATGCCATGCGCTCTGCGTGG	0.642																																						ENST00000337907.3		NA																	0				central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(4213-4215)Cgc>Tgc		arginine-glutamic acid dipeptide (RE) repeats		G	CYS/ARG,CYS/ARG,CYS/ARG	0,4398		0,0,2199	78.0	64.0	69.0		4213,2551,4213	5.6	1.0	1		69	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	RERE	NM_001042681.1,NM_001042682.1,NM_012102.3	180,180,180	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	1405/1567,851/1013,1405/1567	8418382	1,12997	2199	4300	6499	SO:0001583	missense	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8418382G>A	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.4213C>T	1.37:g.8418382G>A	ENSP00000338629:p.Arg1405Cys	False	False		Somatic	0				RERE_ENST00000377464.1_Missense_Mutation_p.R1137C|RERE_ENST00000476556.1_Missense_Mutation_p.R851C|RERE_ENST00000400908.2_Missense_Mutation_p.R1405C|RERE_ENST00000400907.2_Intron	p.R1405C	NM_012102.3	NP_036234.3	WXS	Illumina HiSeq	Phase_I	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	21	4847	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	1405					O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	c.4213C>T	CCDS95.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347872	0.82022	0.0	1.16E-4	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908	T;T;T	0.60548	0.18;0.2;0.18	5.61	5.61	0.85477	.	.	.	.	.	T	0.78065	0.4225	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79732	-0.1680	9	0.87932	D	0	-28.4026	18.9896	0.92786	0.0:0.0:1.0:0.0	.	1405	Q9P2R6	RERE_HUMAN	C	1405;1137;851;1405	ENSP00000338629:R1405C;ENSP00000366684:R1137C;ENSP00000383700:R1405C	ENSP00000338629:R1405C	R	-	1	0	RERE	8340969	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.049000	0.57397	2.793000	0.96121	0.655000	0.94253	CGC		0.642	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1	0			1:8418382
MAD2L1	4085	broad.mit.edu	37	4	120987848	120987848	+	Silent	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr4:120987848G>A	ENST00000296509.6	-	1	381	c.42C>T	c.(40-42)cgC>cgT	p.R14R	RP11-679C8.2_ENST00000503073.1_RNA|RP11-679C8.2_ENST00000511064.1_RNA|RP11-679C8.2_ENST00000508362.1_RNA|RP11-679C8.2_ENST00000504106.1_RNA	NM_002358.3	NP_002349.1	Q13257	MD2L1_HUMAN	MAD2 mitotic arrest deficient-like 1 (yeast)	14	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(2)|kidney(2)|large_intestine(2)|lung(3)	9						CGGCGCTCCCGCGCAGGGTGA	0.632																																						ENST00000296509.6		NA																	0				breast(2)|kidney(2)|large_intestine(2)|lung(3)	9						c.(40-42)cgC>cgT		MAD2 mitotic arrest deficient-like 1 (yeast)							38.0	40.0	39.0					4																	120987848		2203	4300	6503	SO:0001819	synonymous_variant	4085				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of apoptosis|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of mitotic cell cycle spindle assembly checkpoint	condensed chromosome kinetochore|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity	g.chr4:120987848G>A	U65410	CCDS3715.1	4q27	2013-01-17	2001-11-28		ENSG00000164109	ENSG00000164109			6763	protein-coding gene	gene with protein product		601467	"""MAD2 (mitotic arrest deficient, yeast, homolog)-like 1"""			8824189, 9345911	Standard	NM_002358		Approved	MAD2, HSMAD2	uc003idl.2	Q13257	OTTHUMG00000132967	ENST00000296509.6:c.42C>T	4.37:g.120987848G>A		True	False		Somatic	0					p.R14R	NM_002358.3	NP_002349.1	WXS	Illumina HiSeq	Phase_I	Q13257	MD2L1_HUMAN			1	381	-			NA			HORMA.		Q53F56|Q548X9|Q6IRW7|Q8IZX3	Silent	SNP	ENST00000296509.6	37	c.42C>T	CCDS3715.1																																																																																				0.632	MAD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256525.2	0			4:120987848
LINC01098	285501	broad.mit.edu	37	4	178897004	178897004	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr4:178897004G>A	ENST00000507870.1	+	5	669	c.207G>A	c.(205-207)tgG>tgA	p.W69*																	lung(8)|prostate(1)	9						GTCATCACTGGGGCACGGGAA	0.413																																						ENST00000507870.1		NA																	0				lung(8)|prostate(1)	9						c.(205-207)tgG>tgA									197.0	200.0	199.0					4																	178897004		1880	4101	5981	SO:0001587	stop_gained	0							g.chr4:178897004G>A																												ENST00000507870.1:c.207G>A	4.37:g.178897004G>A	ENSP00000421352:p.Trp69*	True	False		Somatic	0					p.W69*			WXS	Illumina HiSeq	Phase_I					5	669	+			NA						Nonsense_Mutation	SNP	ENST00000507870.1	37	c.207G>A		.	.	.	.	.	.	.	.	.	.	G	27.2	4.805314	0.90623	.	.	ENSG00000231171	ENST00000507870	.	.	.	4.08	0.213	0.15244	.	.	.	.	.	.	.	.	.	.	.	0.46260	A	0.998958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.5629	0.07889	0.18:0.0:0.4517:0.3683	.	.	.	.	X	69	.	.	W	+	3	0	RP11-389E17.1	179133998	0.000000	0.05858	0.000000	0.03702	0.120000	0.20174	0.106000	0.15354	-0.004000	0.14419	-0.188000	0.12872	TGG		0.413	RP11-389E17.1-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000361922.1	0			4:178897004
OSBPL8	114882	broad.mit.edu	37	12	76779953	76779953	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr12:76779953C>A	ENST00000261183.3	-	14	2007	c.1528G>T	c.(1528-1530)Gaa>Taa	p.E510*	OSBPL8_ENST00000393250.4_Nonsense_Mutation_p.E468*|OSBPL8_ENST00000393249.2_Nonsense_Mutation_p.E468*	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	510					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						AATACCTGTTCAGCAATATAA	0.318																																						ENST00000261183.3		NA																	0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						c.(1528-1530)Gaa>Taa		oxysterol binding protein-like 8							44.0	42.0	43.0					12																	76779953		2203	4298	6501	SO:0001587	stop_gained	114882				lipid transport		lipid binding	g.chr12:76779953C>A	AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.1528G>T	12.37:g.76779953C>A	ENSP00000261183:p.Glu510*	False	False		Somatic	0				OSBPL8_ENST00000393250.4_Nonsense_Mutation_p.E468*|OSBPL8_ENST00000393249.2_Nonsense_Mutation_p.E468*	p.E510*	NM_020841.4	NP_065892.1	WXS	Illumina HiSeq	Phase_I	Q9BZF1	OSBL8_HUMAN			14	2007	-			510					A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Nonsense_Mutation	SNP	ENST00000261183.3	37	c.1528G>T	CCDS31862.1	.	.	.	.	.	.	.	.	.	.	C	43	9.950176	0.99303	.	.	ENSG00000091039	ENST00000393249;ENST00000261183;ENST00000446075;ENST00000393250;ENST00000438913;ENST00000547540;ENST00000546946	.	.	.	5.65	5.65	0.86999	.	0.094278	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-22.0275	19.724	0.96154	0.0:1.0:0.0:0.0	.	.	.	.	X	468;510;495;468;510;510;485	.	ENSP00000261183:E510X	E	-	1	0	OSBPL8	75304084	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.092000	0.71414	2.654000	0.90174	0.557000	0.71058	GAA		0.318	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406357.1	0	NM_020841		12:76779953
ROBO3	64221	broad.mit.edu	37	11	124749808	124749808	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr11:124749808G>A	ENST00000397801.1	+	26	4114	c.3922G>A	c.(3922-3924)Gtg>Atg	p.V1308M	ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000543966.1_Missense_Mutation_p.V71M|ROBO3_ENST00000538940.1_Missense_Mutation_p.V1286M	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1308					axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GGTCCAGGCCGTGCCCCTGGC	0.692																																						ENST00000397801.1		NA																	0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(3922-3924)Gtg>Atg		roundabout, axon guidance receptor, homolog 3 (Drosophila)							12.0	17.0	15.0					11																	124749808		2027	4174	6201	SO:0001583	missense	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124749808G>A	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.3922G>A	11.37:g.124749808G>A	ENSP00000380903:p.Val1308Met	False	False		Somatic	0				ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000543966.1_Missense_Mutation_p.V71M|ROBO3_ENST00000538940.1_Missense_Mutation_p.V1286M	p.V1308M	NM_022370.3	NP_071765.2	WXS	Illumina HiSeq	Phase_I	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	26	4114	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	1308						Missense_Mutation	SNP	ENST00000397801.1	37	c.3922G>A	CCDS44755.1	.	.	.	.	.	.	.	.	.	.	G	5.514	0.279841	0.10458	.	.	ENSG00000154134	ENST00000397801;ENST00000538940;ENST00000543966	T;T;T	0.64438	-0.1;-0.09;0.88	5.28	-0.16	0.13375	.	1.155830	0.06713	N	0.773491	T	0.45276	0.1334	N	0.22421	0.69	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.23119	-1.0197	10	0.29301	T	0.29	.	7.3071	0.26453	0.2549:0.0:0.6225:0.1226	.	1308	Q96MS0	ROBO3_HUMAN	M	1308;1286;71	ENSP00000380903:V1308M;ENSP00000441797:V1286M;ENSP00000438799:V71M	ENSP00000380903:V1308M	V	+	1	0	ROBO3	124255018	0.001000	0.12720	0.002000	0.10522	0.021000	0.10359	0.938000	0.28965	-0.348000	0.08286	-1.004000	0.02495	GTG		0.692	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	0	XM_370663		11:124749808
ABHD8	79575	broad.mit.edu	37	19	17411740	17411740	+	Missense_Mutation	SNP	G	G	A	rs376723965		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:17411740G>A	ENST00000247706.3	-	2	925	c.686C>T	c.(685-687)gCg>gTg	p.A229V	MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000594999.1_5'Flank|MRPL34_ENST00000600434.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	229							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						CTCAGCCAGCGCATAGAAGGT	0.602																																					Ovarian(156;1368 2543 15275 41187)	ENST00000247706.3		NA																	0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						c.(685-687)gCg>gTg		abhydrolase domain containing 8		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	69.0	75.0	73.0		686	5.6	1.0	19		73	0,8598		0,0,4299	no	missense	ABHD8	NM_024527.4	64	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	229/440	17411740	1,13003	2203	4299	6502	SO:0001583	missense	79575						hydrolase activity	g.chr19:17411740G>A	AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"""Abhydrolase domain containing"""	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.686C>T	19.37:g.17411740G>A	ENSP00000247706:p.Ala229Val	True	False		Somatic	0				MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron	p.A229V	NM_024527.4	NP_078803.4	WXS	Illumina HiSeq	Phase_I	Q96I13	ABHD8_HUMAN			2	925	-			229					Q9HAE9	Missense_Mutation	SNP	ENST00000247706.3	37	c.686C>T	CCDS12355.1	.	.	.	.	.	.	.	.	.	.	G	32	5.158303	0.94686	2.27E-4	0.0	ENSG00000127220	ENST00000247706;ENST00000544788	T	0.67865	-0.29	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.73969	0.3655	M	0.71871	2.18	0.80722	D	1	D	0.56287	0.975	P	0.51415	0.669	T	0.71833	-0.4473	10	0.28530	T	0.3	-40.0914	17.1044	0.86658	0.0:0.0:1.0:0.0	.	229	Q96I13	ABHD8_HUMAN	V	229;175	ENSP00000247706:A229V	ENSP00000247706:A229V	A	-	2	0	ABHD8	17272740	1.000000	0.71417	0.993000	0.49108	0.926000	0.56050	9.173000	0.94815	2.644000	0.89710	0.561000	0.74099	GCG		0.602	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462937.1	0	NM_024527		19:17411740
OSBPL1A	114876	broad.mit.edu	37	18	21894217	21894217	+	Missense_Mutation	SNP	C	C	G			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr18:21894217C>G	ENST00000319481.3	-	12	1171	c.965G>C	c.(964-966)aGa>aCa	p.R322T	OSBPL1A_ENST00000357041.4_5'Flank	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	322	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					GATTACCTCTCTTGACTGCTG	0.378																																						ENST00000319481.3		NA																	0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(964-966)aGa>aCa		oxysterol binding protein-like 1A							94.0	92.0	92.0					18																	21894217		2203	4300	6503	SO:0001583	missense	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21894217C>G	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.965G>C	18.37:g.21894217C>G	ENSP00000320291:p.Arg322Thr	True	False		Somatic	0					p.R322T	NM_080597.3	NP_542164.2	WXS	Illumina HiSeq	Phase_I	Q9BXW6	OSBL1_HUMAN			12	1171	-	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)		322			PH.		B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	ENST00000319481.3	37	c.965G>C	CCDS11884.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388844	0.82902	.	.	ENSG00000141447	ENST00000319481	T	0.59772	0.24	5.7	5.7	0.88788	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.422043	0.28414	N	0.015439	T	0.81564	0.4849	M	0.90759	3.145	0.80722	D	1	D;D	0.76494	0.999;0.981	D;D	0.78314	0.991;0.966	D	0.83501	0.0075	10	0.52906	T	0.07	-25.6707	19.8161	0.96568	0.0:1.0:0.0:0.0	.	322;322	B0YJ56;Q9BXW6	.;OSBL1_HUMAN	T	322	ENSP00000320291:R322T	ENSP00000320291:R322T	R	-	2	0	OSBPL1A	20148215	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	6.495000	0.73665	2.680000	0.91292	0.585000	0.79938	AGA		0.378	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	0	NM_080597		18:21894217
RBM17	84991	broad.mit.edu	37	10	6157416	6157416	+	Splice_Site	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr10:6157416C>T	ENST00000446108.1	+	12	1747	c.1103C>T	c.(1102-1104)gCg>gTg	p.A368V	RBM17_ENST00000379888.4_Splice_Site_p.A368V|RBM17_ENST00000476706.1_3'UTR	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	368	RRM.				alternative mRNA splicing, via spliceosome (GO:0000380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						TGCCTTTCAGCGGTTGTTGAC	0.353																																						ENST00000446108.1		NA																	0				NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						c.(1102-1104)gCg>gTg		RNA binding motif protein 17							173.0	159.0	164.0					10																	6157416		2203	4300	6503	SO:0001630	splice_region_variant	84991				mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr10:6157416C>T	AF083384	CCDS7077.1	10p15.1	2013-01-28			ENSG00000134453	ENSG00000134453		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	16944	protein-coding gene	gene with protein product	"""splicing factor 45kDa"""	606935				9731529	Standard	NM_032905		Approved	SPF45, MGC14439	uc001ijb.3	Q96I25	OTTHUMG00000017618	ENST00000446108.1:c.1103-1C>T	10.37:g.6157416C>T		False	False		Somatic	0				RBM17_ENST00000379888.4_Splice_Site_p.A368V|RBM17_ENST00000476706.1_3'UTR	p.A368V	NM_001145547.1	NP_001139019.1	WXS	Illumina HiSeq	Phase_I	Q96I25	SPF45_HUMAN			12	1747	+			368			RRM.		Q96GY6	Splice_Site	SNP	ENST00000446108.1	37	c.1103C>T	CCDS7077.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.653982	0.88056	.	.	ENSG00000134453	ENST00000379888;ENST00000446108	.	.	.	4.93	4.93	0.64822	RNA recognition motif domain, eukaryote (1);Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	D	0.87617	0.6222	H	0.95645	3.7	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91544	0.5252	8	.	.	.	.	18.519	0.90944	0.0:1.0:0.0:0.0	.	368	Q96I25	SPF45_HUMAN	V	368	.	.	A	+	2	0	RBM17	6197422	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	7.091000	0.76923	2.424000	0.82194	0.655000	0.94253	GCG		0.353	RBM17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046635.1	0	NM_032905	Missense_Mutation	10:6157416
TSPAN12	23554	broad.mit.edu	37	7	120478922	120478922	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr7:120478922G>A	ENST00000222747.3	-	4	801	c.194C>T	c.(193-195)cCg>cTg	p.P65L	TSPAN12_ENST00000415871.1_Missense_Mutation_p.P65L	NM_012338.3	NP_036470.1	O95859	TSN12_HUMAN	tetraspanin 12	65					angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|regulation of angiogenesis (GO:0045765)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.P65Q(1)		endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					AATCATGACCGGATGAACCAC	0.373																																						ENST00000222747.3		NA																	1	Substitution - Missense(1)	p.P65Q(1)	lung(1)	endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10						c.(193-195)cCg>cTg		tetraspanin 12							162.0	153.0	156.0					7																	120478922		2203	4300	6503	SO:0001583	missense	23554				angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction		g.chr7:120478922G>A	AF124522	CCDS5777.1	7q31.31	2013-02-14	2005-03-21	2005-03-21	ENSG00000106025	ENSG00000106025		"""Tetraspanins"""	21641	protein-coding gene	gene with protein product		613138	"""transmembrane 4 superfamily member 12"""	TM4SF12			Standard	NM_012338		Approved	NET-2	uc003vjk.3	O95859	OTTHUMG00000156980	ENST00000222747.3:c.194C>T	7.37:g.120478922G>A	ENSP00000222747:p.Pro65Leu	False	False		Somatic	0				TSPAN12_ENST00000415871.1_Missense_Mutation_p.P65L	p.P65L	NM_012338.3	NP_036470.1	WXS	Illumina HiSeq	Phase_I	O95859	TSN12_HUMAN			4	801	-	all_neural(327;0.117)		65					A4D0V8|B4DRG6|Q549U9|Q8N5Y0	Missense_Mutation	SNP	ENST00000222747.3	37	c.194C>T	CCDS5777.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.127309	0.77549	.	.	ENSG00000106025	ENST00000222747;ENST00000415871;ENST00000441017;ENST00000433758;ENST00000424710;ENST00000430985	T;T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96;-0.96;-0.96	5.99	5.99	0.97316	.	0.052782	0.85682	D	0.000000	T	0.70500	0.3231	L	0.45581	1.43	0.80722	D	1	B	0.32829	0.386	B	0.32465	0.146	T	0.65047	-0.6263	10	0.21540	T	0.41	-14.5881	20.5371	0.99232	0.0:0.0:1.0:0.0	.	65	O95859	TSN12_HUMAN	L	65	ENSP00000222747:P65L;ENSP00000397699:P65L;ENSP00000411158:P65L;ENSP00000399059:P65L;ENSP00000404942:P65L;ENSP00000388819:P65L	ENSP00000222747:P65L	P	-	2	0	TSPAN12	120266158	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.398000	0.90195	2.857000	0.98124	0.650000	0.86243	CCG		0.373	TSPAN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346951.1	0	NM_012338		7:120478922
LRP5	4041	broad.mit.edu	37	11	68216515	68216515	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr11:68216515T>C	ENST00000294304.7	+	23	4931	c.4825T>C	c.(4825-4827)Tcc>Ccc	p.S1609P	LRP5_ENST00000529481.1_3'UTR	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1609	Pro-rich.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCCCCCTCCGTCCCCCTGCAC	0.582																																						ENST00000294304.7		NA																	0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(4825-4827)Tcc>Ccc		low density lipoprotein receptor-related protein 5							33.0	36.0	35.0					11																	68216515		2200	4292	6492	SO:0001583	missense	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68216515T>C	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.4825T>C	11.37:g.68216515T>C	ENSP00000294304:p.Ser1609Pro	True	False		Somatic	0				LRP5_ENST00000529481.1_3'UTR	p.S1609P	NM_002335.2	NP_002326.2	WXS	Illumina HiSeq	Phase_I	O75197	LRP5_HUMAN			23	4931	+			1609			Pro-rich.		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	c.4825T>C	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	T	16.07	3.019969	0.54576	.	.	ENSG00000162337	ENST00000294304	D	0.96830	-4.14	4.53	4.53	0.55603	.	0.000000	0.46145	U	0.000317	D	0.97791	0.9275	M	0.78637	2.42	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	D	0.98611	1.0663	10	0.87932	D	0	.	14.0922	0.64998	0.0:0.0:0.0:1.0	.	1609;1609	Q9UES7;O75197	.;LRP5_HUMAN	P	1609	ENSP00000294304:S1609P	ENSP00000294304:S1609P	S	+	1	0	LRP5	67973091	1.000000	0.71417	0.932000	0.37286	0.021000	0.10359	7.395000	0.79876	1.919000	0.55581	0.454000	0.30748	TCC		0.582	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	0	NM_002335		11:68216515
KIR3DL2	3812	broad.mit.edu	37	19	55378105	55378105	+	Silent	SNP	G	G	A	rs190401211		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:55378105G>A	ENST00000326321.3	+	9	1320	c.1287G>A	c.(1285-1287)acG>acA	p.T429T	KIR3DL1_ENST00000402254.2_Silent_p.T429T|RNU6-222P_ENST00000362438.1_RNA|KIR3DL2_ENST00000270442.5_Silent_p.T412T	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	429					cellular defense response (GO:0006968)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		GCGTGTACACGGAACTTCCAA	0.522																																						ENST00000326321.3		NA																	0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23						c.(1285-1287)acG>acA		killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2							288.0	281.0	283.0					19																	55378105		2203	4300	6503	SO:0001819	synonymous_variant	3812				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity	g.chr19:55378105G>A	L41270	CCDS12906.1, CCDS58677.1	19q13.4	2014-05-22			ENSG00000240403	ENSG00000240403		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6339	protein-coding gene	gene with protein product		604947				7716543, 8662091	Standard	NM_006737		Approved	cl-5, nkat4, nkat4a, nkat4b, CD158K	uc002qho.4	P43630	OTTHUMG00000065935	ENST00000326321.3:c.1287G>A	19.37:g.55378105G>A		False	False		Somatic	0				KIR3DL1_ENST00000402254.2_Silent_p.T429T|KIR3DL2_ENST00000270442.5_Silent_p.T412T	p.T429T	NM_006737.3	NP_006728.2	WXS	Illumina HiSeq	Phase_I	P43630	KI3L2_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	9	1320	+			429					Q13238|Q14947|Q14948|Q92684|Q95366|Q95367|Q95368	Silent	SNP	ENST00000326321.3	37	c.1287G>A	CCDS12906.1																																																																																				0.522	KIR3DL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141241.1	0			19:55378105
LZTS2	84445	broad.mit.edu	37	10	102765276	102765276	+	Missense_Mutation	SNP	C	C	T	rs368966948		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr10:102765276C>T	ENST00000370220.1	+	3	4193	c.1130C>T	c.(1129-1131)gCg>gTg	p.A377V	LZTS2_ENST00000370223.3_Missense_Mutation_p.A377V					leucine zipper, putative tumor suppressor 2											breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GAGGACTGTGCGGCCCAGGCA	0.657																																					Esophageal Squamous(8;38 437 13604 19902 37640)	ENST00000370220.1		NA																	0				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1129-1131)gCg>gTg		leucine zipper, putative tumor suppressor 2		C	VAL/ALA	1,4395		0,1,2197	22.0	27.0	25.0		1130	1.6	0.0	10		25	0,8564		0,0,4282	no	missense	LZTS2	NM_032429.2	64	0,1,6479	TT,TC,CC		0.0,0.0227,0.0077	benign	377/670	102765276	1,12959	2198	4282	6480	SO:0001583	missense	84445				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center		g.chr10:102765276C>T	AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816			29381	protein-coding gene	gene with protein product		610454				11347906, 11709705	Standard	NM_032429		Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.1130C>T	10.37:g.102765276C>T	ENSP00000359240:p.Ala377Val	False	False		Somatic	0				LZTS2_ENST00000370223.3_Missense_Mutation_p.A377V	p.A377V			WXS	Illumina HiSeq	Phase_I	Q9BRK4	LZTS2_HUMAN		Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)	3	4193	+			377						Missense_Mutation	SNP	ENST00000370220.1	37	c.1130C>T	CCDS7507.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.941222	0.34283	2.27E-4	0.0	ENSG00000107816	ENST00000370223;ENST00000315797;ENST00000370220	T;T	0.48836	0.8;0.8	5.09	1.64	0.23874	.	0.379079	0.28284	N	0.015912	T	0.33644	0.0870	L	0.31420	0.93	0.09310	N	0.999999	B	0.12630	0.006	B	0.10450	0.005	T	0.29119	-1.0022	10	0.48119	T	0.1	4.0816	10.9855	0.47520	0.0:0.7431:0.0:0.2569	.	377	Q9BRK4	LZTS2_HUMAN	V	377	ENSP00000359243:A377V;ENSP00000359240:A377V	ENSP00000314437:A377V	A	+	2	0	LZTS2	102755266	0.000000	0.05858	0.000000	0.03702	0.364000	0.29643	0.846000	0.27682	0.519000	0.28406	0.561000	0.74099	GCG		0.657	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049872.1	0	XM_046743		10:102765276
CAND2	23066	broad.mit.edu	37	3	12856671	12856671	+	Silent	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr3:12856671C>T	ENST00000456430.2	+	8	1079	c.1038C>T	c.(1036-1038)gaC>gaT	p.D346D	CAND2_ENST00000295989.5_Silent_p.D253D	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	346	Poly-Asp.				positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						ATGACGATGACATGAGCTGGA	0.617																																					GBM(43;676 868 1633 6395 37496)	ENST00000456430.2		NA																	0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1036-1038)gaC>gaT		cullin-associated and neddylation-dissociated 2 (putative)							60.0	67.0	65.0					3																	12856671		2156	4255	6411	SO:0001819	synonymous_variant	23066				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr3:12856671C>T		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"""TBP interacting protein"""	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.1038C>T	3.37:g.12856671C>T		False	False		Somatic	0				CAND2_ENST00000295989.5_Silent_p.D253D	p.D346D	NM_001162499.1	NP_001155971.1	WXS	Illumina HiSeq	Phase_I	O75155	CAND2_HUMAN			8	1079	+			346			Poly-Asp.		B9EGM9|E9KL24	Silent	SNP	ENST00000456430.2	37	c.1038C>T	CCDS54554.1																																																																																				0.617	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	0	XM_371617		3:12856671
C2orf71	388939	broad.mit.edu	37	2	29296840	29296840	+	Silent	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:29296840G>A	ENST00000331664.5	-	1	287	c.288C>T	c.(286-288)acC>acT	p.T96T		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	96					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						AAGAGGTTTTGGTTCCTGGGA	0.483																																						ENST00000331664.5		NA																	0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						c.(286-288)acC>acT		chromosome 2 open reading frame 71							250.0	234.0	239.0					2																	29296840		1943	4137	6080	SO:0001819	synonymous_variant	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29296840G>A		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.288C>T	2.37:g.29296840G>A		True	False		Somatic	0					p.T96T	NM_001029883.2	NP_001025054.1	WXS	Illumina HiSeq	Phase_I	A6NGG8	CB071_HUMAN			1	287	-			96						Silent	SNP	ENST00000331664.5	37	c.288C>T	CCDS42669.1																																																																																				0.483	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	0	NM_001029883		2:29296840
HOXA5	3202	broad.mit.edu	37	7	27182747	27182747	+	Silent	SNP	C	C	T	rs202017218		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr7:27182747C>T	ENST00000222726.3	-	1	540	c.480G>A	c.(478-480)gcG>gcA	p.A160A	HOXA3_ENST00000521401.1_5'Flank|RP1-170O19.22_ENST00000467897.2_RNA|HOXA6_ENST00000521478.1_5'Flank|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521197.1_RNA|HOXA5_ENST00000520854.1_5'Flank	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	160					anterior/posterior pattern specification (GO:0009952)|bronchiole development (GO:0060435)|cell migration (GO:0016477)|cell-cell signaling involved in mammary gland development (GO:0060764)|embryonic skeletal system morphogenesis (GO:0048704)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|intestinal epithelial cell maturation (GO:0060574)|lung alveolus development (GO:0048286)|lung goblet cell differentiation (GO:0060480)|lung-associated mesenchyme development (GO:0060484)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal-epithelial cell signaling (GO:0060638)|multicellular organism growth (GO:0035264)|negative regulation of angiogenesis (GO:0016525)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of apoptotic process (GO:0043065)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|respiratory system process (GO:0003016)|thyroid gland development (GO:0030878)|trachea cartilage morphogenesis (GO:0060535)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A160A(2)		central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						TCTGCGCACTCGCCTGCTCGC	0.692													C|||	1	0.000199681	0.0008	0.0	5008	,	,		10202	0.0		0.0	False		,,,				2504	0.0				Colon(119;75 2200 7557 42868)	ENST00000222726.3		NA																	2	Substitution - coding silent(2)	p.A160A(2)	lung(2)	central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						c.(478-480)gcG>gcA		homeobox A5							57.0	70.0	65.0					7																	27182747		2199	4295	6494	SO:0001819	synonymous_variant	3202				negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27182747C>T		CCDS5406.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106004	ENSG00000106004		"""Homeoboxes / ANTP class : HOXL subclass"""	5106	protein-coding gene	gene with protein product		142952	"""homeo box A5"""	HOX1C, HOX1		1973146, 1358459	Standard	NM_019102		Approved		uc003syn.2	P20719	OTTHUMG00000023214	ENST00000222726.3:c.480G>A	7.37:g.27182747C>T		False	False		Somatic	0				RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521197.1_RNA	p.A160A	NM_019102.3	NP_061975.2	WXS	Illumina HiSeq	Phase_I	P20719	HXA5_HUMAN			1	540	-			160					A4D179|O43367|Q96CY6	Silent	SNP	ENST00000222726.3	37	c.480G>A	CCDS5406.1																																																																																				0.692	HOXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358705.1	0			7:27182747
DCAF12L2	340578	broad.mit.edu	37	X	125299404	125299404	+	Silent	SNP	G	G	A	rs200451403		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:125299404G>A	ENST00000360028.2	-	1	530	c.504C>T	c.(502-504)ggC>ggT	p.G168G	DCAF12L2_ENST00000538699.1_Silent_p.G168G			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	168										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						TGGGGTTTTCGCCGCCGGTGG	0.672													G|||	8	0.00211921	0.0053	0.0	3775	,	,		10935	0.001		0.0	False		,,,				2504	0.0					ENST00000538699.1		NA																	0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						c.(502-504)ggC>ggT		DDB1 and CUL4 associated factor 12-like 2		G		18,3817		0,14,4,1618,567	62.0	69.0	67.0		504	-7.2	0.0	X		67	0,6728		0,0,0,2428,1872	no	coding-synonymous	DCAF12L2	NM_001013628.2		0,14,4,4046,2439	AA,AG,A,GG,G		0.0,0.4694,0.1704		168/464	125299404	18,10545	2203	4300	6503	SO:0001819	synonymous_variant	340578							g.chrX:125299404G>A	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.504C>T	X.37:g.125299404G>A		False	False		Somatic	0				DCAF12L2_ENST00000360028.2_Silent_p.G168G	p.G168G	NM_001013628.2	NP_001013650.1	WXS	Illumina HiSeq	Phase_I	Q5VW00	DC122_HUMAN			2	584	-			168					B2RN42	Silent	SNP	ENST00000360028.2	37	c.504C>T	CCDS43991.1																																																																																				0.672	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	0	NM_001013628		X:125299404
C15orf41	84529	broad.mit.edu	37	15	36989551	36989551	+	Silent	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr15:36989551G>A	ENST00000566621.1	+	8	754	c.504G>A	c.(502-504)ctG>ctA	p.L168L	C15orf41_ENST00000562877.1_Silent_p.L70L|C15orf41_ENST00000437989.2_Silent_p.L168L|C15orf41_ENST00000565792.1_3'UTR|C15orf41_ENST00000338183.4_Silent_p.L70L|C15orf41_ENST00000569302.1_Silent_p.L168L|C15orf41_ENST00000567389.1_Silent_p.L70L	NM_001130010.1	NP_001123482.1	Q9Y2V0	CO041_HUMAN	chromosome 15 open reading frame 41	168										kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)		ATGAGGTCCTGCTGAGAGACT	0.423																																						ENST00000566621.1		NA																	0				kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12						c.(502-504)ctG>ctA		chromosome 15 open reading frame 41							189.0	189.0	189.0					15																	36989551		1918	4141	6059	SO:0001819	synonymous_variant	84529						protein binding	g.chr15:36989551G>A	BC006254	CCDS45215.1, CCDS45216.1	15q14	2012-05-31			ENSG00000186073	ENSG00000186073			26929	protein-coding gene	gene with protein product		615626					Standard	XM_005254719		Approved	HH114, MGC11326, FLJ22851	uc001zje.4	Q9Y2V0	OTTHUMG00000172659	ENST00000566621.1:c.504G>A	15.37:g.36989551G>A		False	False		Somatic	0				C15orf41_ENST00000569302.1_Silent_p.L168L|C15orf41_ENST00000565792.1_3'UTR|C15orf41_ENST00000437989.2_Silent_p.L168L|C15orf41_ENST00000562877.1_Silent_p.L70L|C15orf41_ENST00000338183.4_Silent_p.L70L|C15orf41_ENST00000567389.1_Silent_p.L70L	p.L168L	NM_001130010.1	NP_001123482.1	WXS	Illumina HiSeq	Phase_I	Q9Y2V0	CO041_HUMAN		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)	8	754	+		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)	168					B2RD87	Silent	SNP	ENST00000566621.1	37	c.504G>A	CCDS45215.1																																																																																				0.423	C15orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419741.1	0	NM_032499		15:36989551
ST8SIA2	8128	broad.mit.edu	37	15	93007522	93007522	+	Silent	SNP	G	G	A	rs377119605		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr15:93007522G>A	ENST00000268164.3	+	6	1272	c.1035G>A	c.(1033-1035)ccG>ccA	p.P345P	ST8SIA2_ENST00000539113.1_Silent_p.P324P	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	345					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	early endosome (GO:0005769)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|recycling endosome (GO:0055037)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			AGGCCAGCCCGCATACCATGC	0.572																																						ENST00000268164.3		NA																	0				endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20						c.(1033-1035)ccG>ccA		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2							92.0	85.0	88.0					15																	93007522		2198	4298	6496	SO:0001819	synonymous_variant	8128				axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr15:93007522G>A	U33551	CCDS10372.1	15q26	2013-03-01	2003-01-14	2005-02-07	ENSG00000140557	ENSG00000140557		"""Sialyltransferases"""	10870	protein-coding gene	gene with protein product		602546	"""sialyltransferase 8 (alpha-2, 8-sialytransferase) B"""	SIAT8B		7559389	Standard	NM_006011		Approved	STX, ST8SIA-II, HsT19690	uc002bra.3	Q92186	OTTHUMG00000149843	ENST00000268164.3:c.1035G>A	15.37:g.93007522G>A		True	False		Somatic	0				ST8SIA2_ENST00000539113.1_Silent_p.P324P	p.P345P	NM_006011.3	NP_006002.1	WXS	Illumina HiSeq	Phase_I	Q92186	SIA8B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)		6	1272	+	Lung NSC(78;0.0893)|all_lung(78;0.125)		345					Q4VAZ0|Q92470|Q92746	Silent	SNP	ENST00000268164.3	37	c.1035G>A	CCDS10372.1																																																																																				0.572	ST8SIA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313526.1	0	NM_006011		15:93007522
CACNA1G	8913	broad.mit.edu	37	17	48650072	48650072	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr17:48650072T>C	ENST00000359106.5	+	6	904	c.904T>C	c.(904-906)Tat>Cat	p.Y302H	CACNA1G_ENST00000514717.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000503485.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000513964.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000507510.2_Missense_Mutation_p.Y302H|CACNA1G_ENST00000515765.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000360761.4_Missense_Mutation_p.Y302H|CACNA1G_ENST00000429973.2_Missense_Mutation_p.Y302H|CACNA1G_ENST00000507896.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000515165.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000358244.5_Missense_Mutation_p.Y302H|CACNA1G_ENST00000352832.5_Missense_Mutation_p.Y302H|CACNA1G_ENST00000505165.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000510366.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000442258.2_Missense_Mutation_p.Y302H|CACNA1G_ENST00000507336.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000514079.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000514181.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000354983.4_Missense_Mutation_p.Y302H|CACNA1G_ENST00000507609.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000513689.2_Missense_Mutation_p.Y302H|CACNA1G_ENST00000512389.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000510115.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000416767.4_Missense_Mutation_p.Y302H|CACNA1G_ENST00000502264.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000515411.1_Missense_Mutation_p.Y302H	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	302					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CGGTCTGGACTATGAGGCCTA	0.637																																						ENST00000352832.5		NA																	0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(904-906)Tat>Cat		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						38.0	43.0	41.0					17																	48650072		2108	4225	6333	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48650072T>C	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.904T>C	17.37:g.48650072T>C	ENSP00000352011:p.Tyr302His	False	False		Somatic	0				CACNA1G_ENST00000416767.4_Missense_Mutation_p.Y302H|CACNA1G_ENST00000514717.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000507336.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000514181.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000507609.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000359106.5_Missense_Mutation_p.Y302H|CACNA1G_ENST00000515765.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000513964.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000442258.2_Missense_Mutation_p.Y302H|CACNA1G_ENST00000515165.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000360761.4_Missense_Mutation_p.Y302H|CACNA1G_ENST00000503485.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000502264.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000512389.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000510366.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000507896.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000510115.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000429973.2_Missense_Mutation_p.Y302H|CACNA1G_ENST00000515411.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000507510.2_Missense_Mutation_p.Y302H|CACNA1G_ENST00000505165.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000513689.2_Missense_Mutation_p.Y302H|CACNA1G_ENST00000354983.4_Missense_Mutation_p.Y302H|CACNA1G_ENST00000514079.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000358244.5_Missense_Mutation_p.Y302H	p.Y302H	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	WXS	Illumina HiSeq	Phase_I	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		6	1276	+	Breast(11;6.7e-17)		302					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.904T>C	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	t	10.56	1.385505	0.25031	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96967	-4.04;-4.04;-4.19;-3.98;-4.03;-4.04;-4.06;-4.14;-4.1;-4.12;-4.13;-4.0;-4.01;-4.08;-4.03;-3.98;-4.06;-4.02;-4.0;-4.07;-4.04;-4.01;-4.06;-4.0;-4.06;-4.06	5.36	4.29	0.51040	Ion transport (1);	0.408184	0.18169	N	0.149521	D	0.96163	0.8749	L	0.39245	1.2	0.34568	D	0.713136	D;B;D;D;D;D;D;B;D;B;B;B;B;B;D;B;D;B;B;B;D;B;B;B;B;D	0.89917	0.999;0.015;0.99;0.998;0.994;0.999;0.999;0.014;0.999;0.015;0.014;0.012;0.015;0.014;1.0;0.007;0.999;0.028;0.015;0.015;0.999;0.015;0.014;0.016;0.002;0.998	D;B;D;D;D;D;D;B;D;B;B;B;B;B;D;B;D;B;B;B;D;B;B;B;B;D	0.87578	0.997;0.035;0.942;0.986;0.942;0.972;0.998;0.035;0.994;0.035;0.016;0.021;0.035;0.035;0.998;0.035;0.992;0.011;0.035;0.035;0.996;0.035;0.027;0.052;0.003;0.985	D	0.96169	0.9121	10	0.42905	T	0.14	.	8.0638	0.30648	0.0:0.1531:0.0:0.8469	.	302;302;302;302;302;302;302;302;302;302;302;302;302;302;302;302;302;302;302;302;302;302;302;302;302;302	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	H	302	ENSP00000353990:Y302H;ENSP00000339302:Y302H;ENSP00000392390:Y302H;ENSP00000347078:Y302H;ENSP00000409759:Y302H;ENSP00000425522:Y302H;ENSP00000426261:Y302H;ENSP00000425451:Y302H;ENSP00000422407:Y302H;ENSP00000426814:Y302H;ENSP00000427238:Y302H;ENSP00000423112:Y302H;ENSP00000420918:Y302H;ENSP00000426172:Y302H;ENSP00000423045:Y302H;ENSP00000427173:Y302H;ENSP00000426098:Y302H;ENSP00000425698:Y302H;ENSP00000426232:Y302H;ENSP00000423317:Y302H;ENSP00000350979:Y302H;ENSP00000352011:Y302H;ENSP00000414388:Y302H;ENSP00000423155:Y302H;ENSP00000422268:Y302H;ENSP00000421518:Y302H	ENSP00000339302:Y302H	Y	+	1	0	CACNA1G	46005071	1.000000	0.71417	1.000000	0.80357	0.523000	0.34469	2.449000	0.44935	2.055000	0.61198	0.414000	0.27820	TAT		0.637	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	0	NM_018896		17:48650072
DPP10	57628	broad.mit.edu	37	2	116066832	116066832	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:116066832C>A	ENST00000410059.1	+	2	558	c.78C>A	c.(76-78)agC>agA	p.S26R	DPP10_ENST00000310323.8_Missense_Mutation_p.S19R|DPP10_ENST00000409163.1_5'UTR|DPP10_ENST00000393147.2_Missense_Mutation_p.S30R	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	26	Mediates effects on KCND2.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GAAGTAACAGCCCTCCACAGA	0.403																																						ENST00000410059.1		NA																	0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						c.(76-78)agC>agA		dipeptidyl-peptidase 10 (non-functional)							185.0	170.0	175.0					2																	116066832		2203	4300	6503	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116066832C>A	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.78C>A	2.37:g.116066832C>A	ENSP00000386565:p.Ser26Arg	True	False		Somatic	0				DPP10_ENST00000310323.8_Missense_Mutation_p.S19R|DPP10_ENST00000409163.1_5'UTR|DPP10_ENST00000393147.2_Missense_Mutation_p.S30R	p.S26R	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	WXS	Illumina HiSeq	Phase_I	Q8N608	DPP10_HUMAN			2	558	+			26			Mediates effects on KCND2.		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.78C>A	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.011923	0.35511	.	.	ENSG00000175497	ENST00000410059;ENST00000393146;ENST00000393147;ENST00000310323	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.6	2.8	0.32819	.	0.000000	0.85682	D	0.000000	T	0.39306	0.1073	M	0.66939	2.045	0.49389	D	0.999782	B;B;B;B	0.34103	0.331;0.437;0.113;0.192	B;B;B;B	0.32342	0.144;0.117;0.046;0.046	T	0.48139	-0.9061	10	0.87932	D	0	-1.0384	10.6572	0.45682	0.0:0.7958:0.0:0.2042	.	19;30;22;26	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	R	26;22;30;19	ENSP00000386565:S26R;ENSP00000376854:S22R;ENSP00000376855:S30R;ENSP00000309066:S19R	ENSP00000309066:S19R	S	+	3	2	DPP10	115783302	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.653000	0.24902	1.369000	0.46134	0.655000	0.94253	AGC		0.403	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	0	NM_020868		2:116066832
KIF16B	55614	broad.mit.edu	37	20	16360059	16360059	+	Missense_Mutation	SNP	C	C	G			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr20:16360059C>G	ENST00000354981.2	-	19	2745	c.2588G>C	c.(2587-2589)tGt>tCt	p.C863S	KIF16B_ENST00000408042.1_Missense_Mutation_p.C863S|KIF16B_ENST00000355755.3_Missense_Mutation_p.C863S|KIF16B_ENST00000378003.2_Missense_Mutation_p.C89S	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	863	Glu-rich.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						ACATTTTAAACACTCTAGGAT	0.403																																						ENST00000354981.2		NA																	0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(2587-2589)tGt>tCt		kinesin family member 16B							151.0	148.0	149.0					20																	16360059		2203	4300	6503	SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16360059C>G	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.2588G>C	20.37:g.16360059C>G	ENSP00000347076:p.Cys863Ser	True	False		Somatic	0				KIF16B_ENST00000408042.1_Missense_Mutation_p.C863S|KIF16B_ENST00000378003.2_Missense_Mutation_p.C89S|KIF16B_ENST00000355755.3_Missense_Mutation_p.C863S	p.C863S	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	WXS	Illumina HiSeq	Phase_I	Q96L93	KI16B_HUMAN			19	2745	-			863			Glu-rich.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.2588G>C	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	C	0.484	-0.878412	0.02550	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000378003;ENST00000408042	T;T;T;T	0.15603	2.41;2.41;2.41;2.41	5.6	-10.4	0.00318	.	0.880733	0.10214	N	0.701715	T	0.04952	0.0133	N	0.08118	0	0.09310	N	1	B;B;B;B	0.12013	0.001;0.005;0.001;0.001	B;B;B;B	0.13407	0.006;0.009;0.009;0.003	T	0.26780	-1.0093	10	0.17832	T	0.49	.	5.1572	0.15040	0.1466:0.2449:0.073:0.5355	.	863;863;863;863	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	S	863;863;707;89;863	ENSP00000347076:C863S;ENSP00000347995:C863S;ENSP00000367242:C89S;ENSP00000384164:C863S	ENSP00000347076:C863S	C	-	2	0	KIF16B	16308059	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.795000	0.04580	-2.085000	0.00864	-0.781000	0.03364	TGT		0.403	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	0	NM_017683		20:16360059
TTN	7273	broad.mit.edu	37	2	179635138	179635138	+	Splice_Site	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:179635138C>T	ENST00000591111.1	-	35	8605		c.e35+1		TTN_ENST00000460472.2_Splice_Site|TTN_ENST00000359218.5_Splice_Site|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000360870.5_Splice_Site|TTN_ENST00000589042.1_Splice_Site|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342175.6_Splice_Site|TTN_ENST00000342992.6_Splice_Site			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATCAACTTACTCTCCACGTG	0.433																																						ENST00000589042.1		NA																	0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.e35+1		titin							70.0	69.0	69.0					2																	179635138		2203	4300	6503	SO:0001630	splice_region_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179635138C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.8380+1G>A	2.37:g.179635138C>T		False	False		Somatic	0				TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000360870.5_Splice_Site|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000460472.2_Splice_Site|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Splice_Site|TTN_ENST00000591111.1_Splice_Site|TTN_ENST00000359218.5_Splice_Site		NM_001267550.1	NP_001254479.1	WXS	Illumina HiSeq	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		35	8605	-			NA					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Splice_Site	SNP	ENST00000591111.1	37			.	.	.	.	.	.	.	.	.	.	C	21.0	4.080897	0.76528	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6282	0.99521	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TTN	179343383	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	7.814000	0.86154	2.871000	0.98454	0.655000	0.94253	.		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	NM_133378	Intron	2:179635138
HPS3	84343	broad.mit.edu	37	3	148875180	148875180	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr3:148875180G>A	ENST00000296051.2	+	9	1693	c.1553G>A	c.(1552-1554)tGc>tAc	p.C518Y	HPS3_ENST00000460120.1_Missense_Mutation_p.C353Y	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	518					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)			ACCCAGAGCTGCATTCACCTT	0.448									Hermansky-Pudlak syndrome																													ENST00000296051.2		NA																	0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34						c.(1552-1554)tGc>tAc		Hermansky-Pudlak syndrome 3							112.0	98.0	103.0					3																	148875180		2203	4300	6503	SO:0001583	missense	84343	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytoplasm		g.chr3:148875180G>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.1553G>A	3.37:g.148875180G>A	ENSP00000296051:p.Cys518Tyr	False	False		Somatic	0				HPS3_ENST00000460120.1_Missense_Mutation_p.C353Y	p.C518Y	NM_032383.3	NP_115759.2	WXS	Illumina HiSeq	Phase_I	Q969F9	HPS3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		9	1693	+			518					A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Missense_Mutation	SNP	ENST00000296051.2	37	c.1553G>A	CCDS3140.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.618932	0.28801	.	.	ENSG00000163755	ENST00000296051;ENST00000460120	T;T	0.60299	0.2;0.2	5.68	5.68	0.88126	.	0.107611	0.64402	D	0.000005	T	0.71195	0.3311	L	0.55103	1.725	0.48571	D	0.999674	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.977	T	0.63010	-0.6732	10	0.15499	T	0.54	-14.6517	19.7964	0.96487	0.0:0.0:1.0:0.0	.	353;518	G5E9V4;Q969F9	.;HPS3_HUMAN	Y	518;353	ENSP00000296051:C518Y;ENSP00000418230:C353Y	ENSP00000296051:C518Y	C	+	2	0	HPS3	150357870	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.884000	0.56175	2.702000	0.92279	0.655000	0.94253	TGC		0.448	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	0	NM_032383		3:148875180
TSEN34	79042	broad.mit.edu	37	19	54696142	54696142	+	Silent	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:54696142C>T	ENST00000396383.1	+	4	974	c.663C>T	c.(661-663)taC>taT	p.Y221Y	TSEN34_ENST00000396388.2_Silent_p.Y221Y|MBOAT7_ENST00000431666.2_5'Flank|MBOAT7_ENST00000474910.1_5'Flank|MBOAT7_ENST00000338624.6_5'Flank|TSEN34_ENST00000302937.4_Silent_p.Y221Y|TSEN34_ENST00000429671.2_Silent_p.Y221Y|MBOAT7_ENST00000391754.1_5'Flank|CTD-3093M3.1_ENST00000594382.1_lincRNA|MBOAT7_ENST00000245615.1_5'Flank			Q9BSV6	SEN34_HUMAN	TSEN34 tRNA splicing endonuclease subunit	221					mRNA processing (GO:0006397)|tRNA-type intron splice site recognition and cleavage (GO:0000379)	tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)			endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	10	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					AGCTGCGCTACAGTATCTACA	0.642																																					Esophageal Squamous(37;841 964 4869 42824)	ENST00000396383.1		NA																	0				endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(661-663)taC>taT		TSEN34 tRNA splicing endonuclease subunit							60.0	63.0	62.0					19																	54696142		1947	4134	6081	SO:0001819	synonymous_variant	79042				mRNA processing|tRNA-type intron splice site recognition and cleavage	nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity	g.chr19:54696142C>T	AF211970	CCDS42609.1, CCDS74446.1	19q13.4	2013-08-06	2013-08-06	2005-03-12	ENSG00000170892	ENSG00000170892		"""tRNA splicing endonuclease subunits"""	15506	protein-coding gene	gene with protein product		608754	"""leukocyte receptor cluster (LRC) member 5"", ""tRNA splicing endonuclease 34 homolog (SEN34, S. cerevisiae)"", ""tRNA splicing endonuclease 34 homolog (S. cerevisiae)"""	LENG5		10941842, 15109492	Standard	NM_024075		Approved	SEN34, SEN34L	uc002qdw.3	Q9BSV6	OTTHUMG00000066515	ENST00000396383.1:c.663C>T	19.37:g.54696142C>T		False	False		Somatic	0				TSEN34_ENST00000429671.2_Silent_p.Y221Y|TSEN34_ENST00000396388.2_Silent_p.Y221Y|TSEN34_ENST00000302937.4_Silent_p.Y221Y	p.Y221Y			WXS	Illumina HiSeq	Phase_I	Q9BSV6	SEN34_HUMAN			4	974	+	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		221					A6NNB1|B0V3J1|Q9BVT1|Q9H6H5	Silent	SNP	ENST00000396383.1	37	c.663C>T	CCDS42609.1																																																																																				0.642	TSEN34-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142200.1	0	NM_024075		19:54696142
OR4K17	390436	broad.mit.edu	37	14	20586444	20586444	+	Silent	SNP	C	C	T	rs374355972		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr14:20586444C>T	ENST00000315543.4	+	1	879	c.879C>T	c.(877-879)ttC>ttT	p.F293F		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TTTGGCCCTTCGGCAACCACT	0.418																																						ENST00000315543.4		NA																	0				kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21						c.(877-879)ttC>ttT		olfactory receptor, family 4, subfamily K, member 17		C		0,4406		0,0,2203	95.0	87.0	90.0		879	-1.4	0.1	14		90	1,8599		0,1,4299	no	coding-synonymous	OR4K17	NM_001004715.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		293/344	20586444	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	390436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20586444C>T		CCDS32030.1	14q11.2	2013-09-23			ENSG00000176230	ENSG00000176230		"""GPCR / Class A : Olfactory receptors"""	15355	protein-coding gene	gene with protein product							Standard	NM_001004715		Approved		uc001vwo.1	Q8NGC6	OTTHUMG00000170783	ENST00000315543.4:c.879C>T	14.37:g.20586444C>T		False	False		Somatic	0					p.F293F	NM_001004715.1	NP_001004715.1	WXS	Illumina HiSeq	Phase_I	Q8NGC6	OR4KH_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	879	+	all_cancers(95;0.00108)		265					Q6IF12	Silent	SNP	ENST00000315543.4	37	c.879C>T	CCDS32030.1																																																																																				0.418	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410346.1	0			14:20586444
VPS52	6293	broad.mit.edu	37	6	33234430	33234430	+	Silent	SNP	G	G	A	rs571192587|rs184438144		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr6:33234430G>A	ENST00000445902.2	-	12	1403	c.1185C>T	c.(1183-1185)cgC>cgT	p.R395R	VPS52_ENST00000436044.2_Silent_p.R270R|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000482399.1_3'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	395					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						AAAGGTATTCGCGGCAGGAAT	0.512																																						ENST00000445902.2		NA																	0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1183-1185)cgC>cgT		vacuolar protein sorting 52 homolog (S. cerevisiae)							72.0	73.0	73.0					6																	33234430		1511	2709	4220	SO:0001819	synonymous_variant	6293				protein transport	endosome membrane|Golgi apparatus		g.chr6:33234430G>A	AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"""SAC2 suppressor of actin mutations 2-like (yeast)"", ""vacuolar protein sorting 52 (yeast)"""	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.1185C>T	6.37:g.33234430G>A		False	False		Somatic	0				VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Silent_p.R270R|VPS52_ENST00000482399.1_3'UTR	p.R395R	NM_022553.4	NP_072047.4	WXS	Illumina HiSeq	Phase_I	Q8N1B4	VPS52_HUMAN			12	1403	-			395					A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Silent	SNP	ENST00000445902.2	37	c.1185C>T	CCDS4770.2																																																																																				0.512	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	0	NM_022553		6:33234430
OSBPL1A	114876	broad.mit.edu	37	18	21897296	21897296	+	Silent	SNP	C	C	T	rs367725053		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr18:21897296C>T	ENST00000319481.3	-	10	1007	c.801G>A	c.(799-801)agG>agA	p.R267R		NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	267	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CTTACTGTTTCCTATACCATG	0.313																																						ENST00000319481.3		NA																	0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(799-801)agG>agA		oxysterol binding protein-like 1A		C		0,4406		0,0,2203	107.0	116.0	113.0		801	3.8	1.0	18		113	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OSBPL1A	NM_080597.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		267/951	21897296	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21897296C>T	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.801G>A	18.37:g.21897296C>T		True	False		Somatic	0					p.R267R	NM_080597.3	NP_542164.2	WXS	Illumina HiSeq	Phase_I	Q9BXW6	OSBL1_HUMAN			10	1007	-	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)		267			PH.		B7Z7D3|Q9BZF5|Q9NW87	Silent	SNP	ENST00000319481.3	37	c.801G>A	CCDS11884.1																																																																																				0.313	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	0	NM_080597		18:21897296
BEND3	57673	broad.mit.edu	37	6	107391144	107391144	+	Silent	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr6:107391144C>T	ENST00000369042.1	-	4	1441	c.1251G>A	c.(1249-1251)cgG>cgA	p.R417R	BEND3_ENST00000429433.2_Silent_p.R417R			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	417	BEN 2. {ECO:0000255|PROSITE- ProRule:PRU00784}.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						CGGGGAAGAGCCGGTGGAGGA	0.632																																						ENST00000429433.2		NA																	0				central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						c.(1249-1251)cgG>cgA		BEN domain containing 3							49.0	53.0	52.0					6																	107391144		2203	4300	6503	SO:0001819	synonymous_variant	57673							g.chr6:107391144C>T	AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"""BEN domain containing"""	23040	protein-coding gene	gene with protein product			"""KIAA1553"""	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.1251G>A	6.37:g.107391144C>T		False	False		Somatic	0				BEND3_ENST00000369042.1_Silent_p.R417R	p.R417R	NM_001080450.2	NP_001073919.1	WXS	Illumina HiSeq	Phase_I	Q5T5X7	BEND3_HUMAN			5	1900	-			417			BEN 2.		A2RRH2|Q9HCL9	Silent	SNP	ENST00000369042.1	37	c.1251G>A	CCDS34507.1																																																																																				0.632	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041686.1	0	NM_020913		6:107391144
ZNF266	10781	broad.mit.edu	37	19	9526402	9526402	+	Silent	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:9526402C>T	ENST00000592904.1	-	4	2208	c.132G>A	c.(130-132)gtG>gtA	p.V44V	ZNF266_ENST00000361151.1_Silent_p.V44V|ZNF266_ENST00000361451.2_Silent_p.V44V|ZNF266_ENST00000590306.1_Silent_p.V44V|ZNF266_ENST00000592292.1_Silent_p.V44V|ZNF266_ENST00000588221.1_Silent_p.V44V|ZNF266_ENST00000588933.1_Silent_p.V44V			Q14584	ZN266_HUMAN	zinc finger protein 266	44					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						TTTTAAGTTGCACTTTCCATT	0.418																																						ENST00000592904.1		NA																	0				NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						c.(130-132)gtG>gtA		zinc finger protein 266							121.0	114.0	116.0					19																	9526402		2203	4300	6503	SO:0001819	synonymous_variant	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9526402C>T	X78924	CCDS12213.1	19p13.2	2013-01-08				ENSG00000174652		"""Zinc fingers, C2H2-type"""	13059	protein-coding gene	gene with protein product		604751				7865130	Standard	NM_006631		Approved	HZF1	uc002mlo.4	Q14584		ENST00000592904.1:c.132G>A	19.37:g.9526402C>T		False	False		Somatic	0				ZNF266_ENST00000361451.2_Silent_p.V44V|ZNF266_ENST00000592292.1_Silent_p.V44V|ZNF266_ENST00000588221.1_Silent_p.V44V|ZNF266_ENST00000361151.1_Silent_p.V44V|ZNF266_ENST00000588933.1_Silent_p.V44V|ZNF266_ENST00000590306.1_Silent_p.V44V	p.V44V			WXS	Illumina HiSeq	Phase_I	Q14584	ZN266_HUMAN			4	2208	-			44					A0AV90|A4FU85|Q6IQ07|Q6U8A5|Q8IVG3|Q8WVX1|Q96SX9	Silent	SNP	ENST00000592904.1	37	c.132G>A	CCDS12213.1																																																																																				0.418	ZNF266-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449033.1	0			19:9526402
ZFYVE16	9765	broad.mit.edu	37	5	79745505	79745505	+	Missense_Mutation	SNP	C	C	G			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr5:79745505C>G	ENST00000338008.5	+	8	3379	c.3199C>G	c.(3199-3201)Cta>Gta	p.L1067V	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.L1067V|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.L1067V	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	1067					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		AAATGCTAATCTACTCGTGAA	0.323																																					Melanoma(150;1452 1854 16018 17851 37292)	ENST00000338008.5		NA																	0				breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(3199-3201)Cta>Gta		zinc finger, FYVE domain containing 16							137.0	126.0	130.0					5																	79745505		2202	4299	6501	SO:0001583	missense	9765				BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity	g.chr5:79745505C>G	AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"""Zinc fingers, FYVE domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20756	protein-coding gene	gene with protein product	"""endofin"", ""protein phosphatase 1, regulatory subunit 69"""	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.3199C>G	5.37:g.79745505C>G	ENSP00000337159:p.Leu1067Val	False	False		Somatic	0				ZFYVE16_ENST00000505560.1_Missense_Mutation_p.L1067V|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.L1067V	p.L1067V	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	WXS	Illumina HiSeq	Phase_I	Q7Z3T8	ZFY16_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)	8	3379	+		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	1067					O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	ENST00000338008.5	37	c.3199C>G	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352893	0.61293	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.66280	-0.2;-0.2;-0.2	5.91	5.91	0.95273	.	0.000000	0.49305	D	0.000142	T	0.75057	0.3798	M	0.71036	2.16	0.49687	D	0.999811	D	0.65815	0.995	D	0.64144	0.922	T	0.77099	-0.2713	10	0.87932	D	0	-8.6405	11.5991	0.50993	0.0:0.8886:0.0:0.1114	.	1067	Q7Z3T8	ZFY16_HUMAN	V	1067	ENSP00000337159:L1067V;ENSP00000423663:L1067V;ENSP00000426848:L1067V	ENSP00000337159:L1067V	L	+	1	2	ZFYVE16	79781261	1.000000	0.71417	0.991000	0.47740	0.459000	0.32528	3.339000	0.52135	2.804000	0.96469	0.650000	0.86243	CTA		0.323	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	0	NM_014733		5:79745505
C16orf74	404550	broad.mit.edu	37	16	85743833	85743833	+	Missense_Mutation	SNP	C	C	T	rs377716191		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr16:85743833C>T	ENST00000284245.4	-	3	292	c.109G>A	c.(109-111)Gac>Aac	p.D37N	C16orf74_ENST00000602766.1_5'UTR|C16orf74_ENST00000602583.1_Missense_Mutation_p.D25N|C16orf74_ENST00000602758.1_Intron|C16orf74_ENST00000602675.1_5'UTR|C16orf74_ENST00000602719.1_Missense_Mutation_p.D37N|C16orf74_ENST00000602914.1_Intron	NM_206967.2	NP_996850.1	Q96GX8	CP074_HUMAN	chromosome 16 open reading frame 74	37																	ATGATGATGTCGGGCACGTCC	0.662																																						ENST00000602583.1		NA																	0					NA						c.(73-75)Gac>Aac		chromosome 16 open reading frame 74							17.0	22.0	20.0					16																	85743833		2133	4236	6369	SO:0001583	missense	404550							g.chr16:85743833C>T	BC009078	CCDS45540.1	16q24.1	2014-05-28			ENSG00000154102	ENSG00000154102			23362	protein-coding gene	gene with protein product							Standard	NM_206967		Approved	MGC17624	uc002fjc.4	Q96GX8	OTTHUMG00000183875	ENST00000284245.4:c.109G>A	16.37:g.85743833C>T	ENSP00000284245:p.Asp37Asn	True	False		Somatic	0				C16orf74_ENST00000602719.1_Missense_Mutation_p.D37N|C16orf74_ENST00000602766.1_5'UTR|C16orf74_ENST00000602675.1_5'UTR|C16orf74_ENST00000602914.1_Intron|C16orf74_ENST00000602758.1_Intron|C16orf74_ENST00000284245.4_Missense_Mutation_p.D37N	p.D25N			WXS	Illumina HiSeq	Phase_I	Q96GX8	CP074_HUMAN			1	623	-			37						Missense_Mutation	SNP	ENST00000284245.4	37	c.73G>A	CCDS45540.1	.	.	.	.	.	.	.	.	.	.	C	5.934	0.356442	0.11239	.	.	ENSG00000154102	ENST00000284245	.	.	.	4.85	-0.84	0.10755	.	0.448478	0.20948	N	0.082807	T	0.12220	0.0297	.	.	.	0.24242	N	0.995352	B	0.12630	0.006	B	0.06405	0.002	T	0.34725	-0.9817	8	0.02654	T	1	-27.196	8.0544	0.30596	0.0:0.3031:0.0:0.6969	.	37	Q96GX8	CP074_HUMAN	N	37	.	ENSP00000284245:D37N	D	-	1	0	C16orf74	84301334	0.980000	0.34600	0.996000	0.52242	0.986000	0.74619	-0.165000	0.09968	-0.129000	0.11620	0.561000	0.74099	GAC		0.662	C16orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467253.1	0	NM_206967		16:85743833
MYO3A	53904	broad.mit.edu	37	10	26432452	26432452	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr10:26432452C>A	ENST00000265944.5	+	21	2504	c.2338C>A	c.(2338-2340)Ctg>Atg	p.L780M	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	780	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGATATGTTTCTGCAAAAGCC	0.383																																						ENST00000265944.5		NA																	0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(2338-2340)Ctg>Atg		myosin IIIA							140.0	137.0	138.0					10																	26432452		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26432452C>A	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.2338C>A	10.37:g.26432452C>A	ENSP00000265944:p.Leu780Met	True	False		Somatic	0				MYO3A_ENST00000543632.1_Intron	p.L780M	NM_017433.4	NP_059129.3	WXS	Illumina HiSeq	Phase_I	Q8NEV4	MYO3A_HUMAN			21	2504	+			780			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.2338C>A	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.159247	0.78226	.	.	ENSG00000095777	ENST00000265944	D	0.87179	-2.22	6.02	6.02	0.97574	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.91968	0.7456	M	0.67700	2.07	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91867	0.5504	10	0.72032	D	0.01	.	11.775	0.51981	0.0:0.8651:0.0:0.1349	.	780	Q8NEV4	MYO3A_HUMAN	M	780	ENSP00000265944:L780M	ENSP00000265944:L780M	L	+	1	2	MYO3A	26472458	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.744000	0.47450	2.857000	0.98124	0.650000	0.86243	CTG		0.383	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	0	NM_017433		10:26432452
FN1	2335	broad.mit.edu	37	2	216274779	216274779	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:216274779G>A	ENST00000359671.1	-	14	2265	c.2000C>T	c.(1999-2001)aCc>aTc	p.T667I	FN1_ENST00000421182.1_Missense_Mutation_p.T667I|FN1_ENST00000345488.5_Missense_Mutation_p.T667I|FN1_ENST00000357867.4_Missense_Mutation_p.T667I|FN1_ENST00000356005.4_Missense_Mutation_p.T667I|FN1_ENST00000446046.1_Missense_Mutation_p.T667I|FN1_ENST00000443816.1_Missense_Mutation_p.T667I|FN1_ENST00000323926.6_Missense_Mutation_p.T667I|FN1_ENST00000336916.4_Missense_Mutation_p.T667I|FN1_ENST00000432072.2_Missense_Mutation_p.T667I|FN1_ENST00000346544.3_Missense_Mutation_p.T667I|FN1_ENST00000357009.2_Missense_Mutation_p.T667I|FN1_ENST00000354785.4_Missense_Mutation_p.T667I			P02751	FINC_HUMAN	fibronectin 1	667	Fibronectin type-III 1.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	GCCTTTGATGGTGTAGGAGTT	0.488																																						ENST00000354785.4		NA																FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(1999-2001)aCc>aTc		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						180.0	171.0	174.0					2																	216274779		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216274779G>A		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.2000C>T	2.37:g.216274779G>A	ENSP00000352696:p.Thr667Ile	False	False		Somatic	0				FN1_ENST00000345488.5_Missense_Mutation_p.T667I|FN1_ENST00000421182.1_Missense_Mutation_p.T667I|FN1_ENST00000356005.4_Missense_Mutation_p.T667I|FN1_ENST00000432072.2_Missense_Mutation_p.T667I|FN1_ENST00000443816.1_Missense_Mutation_p.T667I|FN1_ENST00000446046.1_Missense_Mutation_p.T667I|FN1_ENST00000323926.6_Missense_Mutation_p.T667I|FN1_ENST00000357867.4_Missense_Mutation_p.T667I|FN1_ENST00000336916.4_Missense_Mutation_p.T667I|FN1_ENST00000359671.1_Missense_Mutation_p.T667I|FN1_ENST00000346544.3_Missense_Mutation_p.T667I|FN1_ENST00000357009.2_Missense_Mutation_p.T667I	p.T667I			WXS	Illumina HiSeq	Phase_I	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	14	2369	-		Renal(323;0.127)	667			Fibronectin type-III 1.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.2000C>T		.	.	.	.	.	.	.	.	.	.	G	21.7	4.187476	0.78789	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005	T;T;T;T;T;T;T;T;T;T;T;T;T	0.60920	0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15	5.65	2.88	0.33553	.	0.312951	0.30969	N	0.008503	T	0.67711	0.2922	L	0.55990	1.75	0.80722	D	1	D;D;P;P;P;D;D;P;P;D	0.89917	1.0;0.999;0.85;0.894;0.913;1.0;1.0;0.894;0.894;1.0	D;D;P;P;P;D;D;P;P;D	0.91635	0.999;0.995;0.521;0.701;0.711;0.989;0.999;0.701;0.701;0.999	T	0.65429	-0.6170	10	0.41790	T	0.15	.	10.4784	0.44678	0.2083:0.0:0.7917:0.0	.	667;667;667;667;667;667;667;667;667;667	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.	I	667	ENSP00000394423:T667I;ENSP00000323534:T667I;ENSP00000338200:T667I;ENSP00000350534:T667I;ENSP00000346839:T667I;ENSP00000352696:T667I;ENSP00000265312:T667I;ENSP00000273049:T667I;ENSP00000349509:T667I;ENSP00000410422:T667I;ENSP00000415018:T667I;ENSP00000399538:T667I;ENSP00000348285:T667I	ENSP00000265313:T667I	T	-	2	0	FN1	215983024	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	5.754000	0.68743	0.870000	0.35726	0.655000	0.94253	ACC		0.488	FN1-204	KNOWN	basic	protein_coding	protein_coding		0	NM_212476		2:216274779
PCDHGA3	56112	broad.mit.edu	37	5	140725536	140725536	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr5:140725536G>A	ENST00000253812.6	+	1	1936	c.1936G>A	c.(1936-1938)Gtc>Atc	p.V646I	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	646	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.			V -> I (in Ref. 1; AAD43717). {ECO:0000305}.	homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGTGGCCGTCCAGGACCA	0.711																																						ENST00000253812.6		NA																	0				breast(1)	1						c.(1936-1938)Gtc>Atc									13.0	21.0	19.0					5																	140725536		2150	4266	6416	SO:0001583	missense	0							g.chr5:140725536G>A	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.1936G>A	5.37:g.140725536G>A	ENSP00000253812:p.Val646Ile	False	False		Somatic	0				PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.V646I	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	WXS	Illumina HiSeq	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1936	+			NA					Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	c.1936G>A	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	19.31	3.802551	0.70682	.	.	ENSG00000254245	ENST00000253812	T	0.61510	0.1	5.12	5.12	0.69794	Cadherin (4);Cadherin-like (1);	0.000000	0.30329	U	0.009862	T	0.69566	0.3125	M	0.85462	2.755	0.30617	N	0.75885	D;P	0.53619	0.961;0.861	P;P	0.51324	0.666;0.458	T	0.75789	-0.3194	10	0.72032	D	0.01	.	12.0577	0.53544	0.0807:0.0:0.9193:0.0	.	646;646	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	I	646	ENSP00000253812:V646I	ENSP00000253812:V646I	V	+	1	0	PCDHGA3	140705720	1.000000	0.71417	0.978000	0.43139	0.998000	0.95712	5.628000	0.67791	2.566000	0.86566	0.558000	0.71614	GTC		0.711	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	0	NM_018916		5:140725536
PER3	8863	broad.mit.edu	37	1	7887612	7887612	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:7887612C>T	ENST00000361923.2	+	17	2774	c.2599C>T	c.(2599-2601)Cca>Tca	p.P867S	PER3_ENST00000377532.3_Missense_Mutation_p.P875S|RP3-467L1.4_ENST00000451646.1_RNA	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	867	Pro-rich.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		ATCGTTTTTGCCATGTCCATT	0.537																																						ENST00000377532.3		NA																	0				breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39						c.(2623-2625)Cca>Tca		period circadian clock 3							179.0	174.0	175.0					1																	7887612		2203	4300	6503	SO:0001583	missense	8863				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr1:7887612C>T	BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.2599C>T	1.37:g.7887612C>T	ENSP00000355031:p.Pro867Ser	False	False		Somatic	0				PER3_ENST00000361923.2_Missense_Mutation_p.P867S	p.P875S			WXS	Illumina HiSeq	Phase_I	P56645	PER3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)	17	2847	+	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	867			Pro-rich.		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	ENST00000361923.2	37	c.2623C>T	CCDS89.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.234770	0.39498	.	.	ENSG00000049246	ENST00000377532;ENST00000361923;ENST00000539773	T;T	0.13196	2.61;2.65	4.32	4.32	0.51571	.	0.845655	0.10846	N	0.627733	T	0.12178	0.0296	L	0.41573	1.285	0.09310	N	0.999997	P;P;P;P	0.46784	0.816;0.816;0.884;0.816	B;B;B;B	0.39152	0.152;0.152;0.292;0.152	T	0.13176	-1.0519	10	0.46703	T	0.11	.	9.4843	0.38919	0.0:0.892:0.0:0.108	.	867;875;875;867	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	S	875;867;78	ENSP00000366755:P875S;ENSP00000355031:P867S	ENSP00000355031:P867S	P	+	1	0	PER3	7810199	0.001000	0.12720	0.049000	0.19019	0.057000	0.15508	0.675000	0.25232	2.240000	0.73641	0.555000	0.69702	CCA		0.537	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	0	NM_016831		1:7887612
NOP2	4839	broad.mit.edu	37	12	6672578	6672578	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr12:6672578G>A	ENST00000322166.5	-	8	912	c.791C>T	c.(790-792)tCt>tTt	p.S264F	NOP2_ENST00000545200.1_Missense_Mutation_p.S260F|NOP2_ENST00000537442.1_Missense_Mutation_p.S264F|NOP2_ENST00000399466.2_Missense_Mutation_p.S260F|NOP2_ENST00000382421.3_Missense_Mutation_p.S297F|NOP2_ENST00000541778.1_Missense_Mutation_p.S260F|NOP2_ENST00000542015.1_Intron	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	264					positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						CAGGTATTCAGAACGAGACCG	0.542											OREG0021630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000541778.1		NA																	0				breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						c.(778-780)tCt>tTt		NOP2 nucleolar protein							75.0	76.0	76.0					12																	6672578		1940	4143	6083	SO:0001583	missense	4839				positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity	g.chr12:6672578G>A		CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"""NOP2/Sun domain containing"""	7867	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 1"""	164031	"""nucleolar protein 1 (120kD)"", ""nucleolar protein 1, 120kDa"", ""nucleolar protein 2 homolog (yeast)"", ""NOP2 nucleolar protein homolog (yeast)"""	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.791C>T	12.37:g.6672578G>A	ENSP00000313272:p.Ser264Phe	False	False		Somatic	0	OREG0021630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	635	NOP2_ENST00000542015.1_Intron|NOP2_ENST00000382421.3_Missense_Mutation_p.S297F|NOP2_ENST00000545200.1_Missense_Mutation_p.S260F|NOP2_ENST00000322166.5_Missense_Mutation_p.S264F|NOP2_ENST00000399466.2_Missense_Mutation_p.S260F|NOP2_ENST00000537442.1_Missense_Mutation_p.S264F	p.S260F			WXS	Illumina HiSeq	Phase_I	P46087	NOP2_HUMAN			8	1267	-			264					A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Missense_Mutation	SNP	ENST00000322166.5	37	c.779C>T	CCDS58203.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.005824	0.54254	.	.	ENSG00000111641	ENST00000537442;ENST00000382421;ENST00000545200;ENST00000399466;ENST00000322166;ENST00000541778;ENST00000542944	T;T;T;T;T;T;T	0.48201	2.4;2.42;2.43;2.4;2.4;2.4;0.82	5.19	5.19	0.71726	.	1.209700	0.05601	N	0.576322	T	0.66247	0.2770	M	0.84082	2.675	0.20563	N	0.999886	P	0.41131	0.739	P	0.49276	0.605	T	0.56463	-0.7975	10	0.66056	D	0.02	-1.1433	11.9695	0.53055	0.0:0.0:0.7038:0.2962	.	260	P46087-2	.	F	264;297;260;260;264;260;140	ENSP00000444437:S264F;ENSP00000371858:S297F;ENSP00000439422:S260F;ENSP00000382392:S260F;ENSP00000313272:S264F;ENSP00000443150:S260F;ENSP00000440754:S140F	ENSP00000313272:S264F	S	-	2	0	NOP2	6542839	0.016000	0.18221	0.035000	0.18076	0.993000	0.82548	1.893000	0.39758	2.436000	0.82500	0.561000	0.74099	TCT		0.542	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402614.1	0	NM_006170		12:6672578
CR1	1378	broad.mit.edu	37	1	207749012	207749012	+	Silent	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:207749012G>A	ENST00000367049.4	+	28	4524	c.4524G>A	c.(4522-4524)ccG>ccA	p.P1508P	CR1_ENST00000367051.1_Silent_p.P1058P|CR1_ENST00000400960.2_Silent_p.P1058P|RP11-78B10.2_ENST00000596003.1_RNA|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367052.1_Silent_p.P1058P|CR1_ENST00000367053.1_Silent_p.P1058P	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1058	Sushi 23. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GCACGAAGCCGCCAATTTGTC	0.448																																						ENST00000367049.4		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(4522-4524)ccG>ccA		complement component (3b/4b) receptor 1 (Knops blood group)							291.0	281.0	284.0					1																	207749012		1899	4129	6028	SO:0001819	synonymous_variant	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207749012G>A	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.4524G>A	1.37:g.207749012G>A		False	False		Somatic	0				CR1_ENST00000367051.1_Silent_p.P1058P|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367052.1_Silent_p.P1058P|CR1_ENST00000367053.1_Silent_p.P1058P|CR1_ENST00000400960.2_Silent_p.P1058P|RP11-78B10.2_ENST00000597497.1_RNA	p.P1508P	NM_000651.4	NP_000642.3	WXS	Illumina HiSeq	Phase_I	P17927	CR1_HUMAN			28	4524	+			1058			Sushi 23.		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Silent	SNP	ENST00000367049.4	37	c.4524G>A	CCDS44308.1																																																																																				0.448	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	0	NM_000573		1:207749012
GPR171	29909	broad.mit.edu	37	3	150916417	150916417	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr3:150916417C>T	ENST00000309180.5	-	3	987	c.757G>A	c.(757-759)Gtc>Atc	p.V253I	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	253					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCAGTTATGACTTCTGTCTGG	0.458																																						ENST00000309180.5		NA																	0				endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15						c.(757-759)Gtc>Atc		G protein-coupled receptor 171							112.0	110.0	110.0					3																	150916417		2203	4300	6503	SO:0001583	missense	29909					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:150916417C>T	AF002986	CCDS3155.1	3q25.1	2012-08-21			ENSG00000174946	ENSG00000174946		"""GPCR / Class A : Orphans"""	30057	protein-coding gene	gene with protein product	"""platelet activating receptor homolog"""					9370294	Standard	NM_013308		Approved	H963	uc003eyq.4	O14626	OTTHUMG00000159861	ENST00000309180.5:c.757G>A	3.37:g.150916417C>T	ENSP00000308479:p.Val253Ile	False	False		Somatic	0				MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	p.V253I	NM_013308.3	NP_037440.3	WXS	Illumina HiSeq	Phase_I	O14626	GP171_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	987	-			253					D3DNJ4|Q8IV06	Missense_Mutation	SNP	ENST00000309180.5	37	c.757G>A	CCDS3155.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.016594	0.35606	.	.	ENSG00000174946	ENST00000309180	T	0.20738	2.05	5.61	2.71	0.32032	GPCR, rhodopsin-like superfamily (1);	0.245951	0.32028	N	0.006693	T	0.12944	0.0314	L	0.33485	1.01	0.31077	N	0.712308	B	0.10296	0.003	B	0.13407	0.009	T	0.22730	-1.0208	10	0.19147	T	0.46	-10.4765	6.008	0.19557	0.2855:0.5747:0.0:0.1398	.	253	O14626	GP171_HUMAN	I	253	ENSP00000308479:V253I	ENSP00000308479:V253I	V	-	1	0	GPR171	152399107	0.035000	0.19736	0.207000	0.23584	0.987000	0.75469	0.419000	0.21247	0.241000	0.21283	0.650000	0.86243	GTC		0.458	GPR171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357793.1	0	NM_013308		3:150916417
TPPP3	51673	broad.mit.edu	37	16	67424140	67424140	+	Silent	SNP	G	G	A	rs137924465	byFrequency	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr16:67424140G>A	ENST00000564104.1	-	3	1309	c.468C>T	c.(466-468)gaC>gaT	p.D156D	TPPP3_ENST00000562206.1_Silent_p.D156D|RNU1-123P_ENST00000458950.1_RNA|TPPP3_ENST00000393957.2_Silent_p.D156D|TPPP3_ENST00000290942.5_Silent_p.D156D			Q9BW30	TPPP3_HUMAN	tubulin polymerization-promoting protein family member 3	156					microtubule bundle formation (GO:0001578)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	tubulin binding (GO:0015631)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)		AGCCACTGTCGTCCAGGATGT	0.627													g|||	2	0.000399361	0.0015	0.0	5008	,	,		19622	0.0		0.0	False		,,,				2504	0.0					ENST00000564104.1		NA																	0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7						c.(466-468)gaC>gaT		tubulin polymerization-promoting protein family member 3			,	4,4392	8.1+/-20.4	0,4,2194	124.0	97.0	106.0		468,468	0.5	1.0	16	dbSNP_134	106	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TPPP3	NM_015964.2,NM_016140.2	,	0,5,6493	AA,AG,GG		0.0116,0.091,0.0385	,	156/177,156/177	67424140	5,12991	2198	4300	6498	SO:0001819	synonymous_variant	51673				microtubule bundle formation	cytoplasm|microtubule	calcium ion binding|tubulin binding	g.chr16:67424140G>A	BC000691	CCDS10835.1	16q22.1	2008-02-05			ENSG00000159713	ENSG00000159713			24162	protein-coding gene	gene with protein product						15590652, 17105200	Standard	XM_005255979		Approved	CGI-38, p25gamma, p20	uc002etb.3	Q9BW30	OTTHUMG00000137516	ENST00000564104.1:c.468C>T	16.37:g.67424140G>A		False	False		Somatic	0				TPPP3_ENST00000562206.1_Silent_p.D156D|TPPP3_ENST00000290942.5_Silent_p.D156D|TPPP3_ENST00000393957.2_Silent_p.D156D	p.D156D			WXS	Illumina HiSeq	Phase_I	Q9BW30	TPPP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)	3	1309	-		Ovarian(137;0.0563)	156					Q49AH9|Q9Y326|Q9Y6H0	Silent	SNP	ENST00000564104.1	37	c.468C>T	CCDS10835.1																																																																																				0.627	TPPP3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421787.2	0	NM_015964		16:67424140
NR2F1	7025	broad.mit.edu	37	5	92924048	92924048	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr5:92924048G>A	ENST00000327111.3	+	2	2576	c.889G>A	c.(889-891)Gac>Aac	p.D297N	NR2F1-AS1_ENST00000513055.1_RNA	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	297					cerebral cortex regionalization (GO:0021796)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|retinoic acid-responsive element binding (GO:0044323)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		GGCCTTCATGGACCACATCCG	0.657																																						ENST00000327111.3		NA																	0				NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(889-891)Gac>Aac		nuclear receptor subfamily 2, group F, member 1							40.0	40.0	40.0					5																	92924048		2202	4300	6502	SO:0001583	missense	7025				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr5:92924048G>A	BC004154	CCDS4068.1	5q14	2013-01-16			ENSG00000175745	ENSG00000175745		"""Nuclear hormone receptors"""	7975	protein-coding gene	gene with protein product		132890		ERBAL3, TFCOUP1		8530078	Standard	NM_005654		Approved	EAR-3, COUP-TFI, TCFCOUP1, SVP44	uc003kkj.3	P10589	OTTHUMG00000119079	ENST00000327111.3:c.889G>A	5.37:g.92924048G>A	ENSP00000325819:p.Asp297Asn	False	False		Somatic	0					p.D297N	NM_005654.4	NP_005645.1	WXS	Illumina HiSeq	Phase_I	P10589	COT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)	2	2576	+		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)	297						Missense_Mutation	SNP	ENST00000327111.3	37	c.889G>A	CCDS4068.1	.	.	.	.	.	.	.	.	.	.	G	35	5.521082	0.96416	.	.	ENSG00000175745	ENST00000327111	D	0.96967	-4.19	4.3	4.3	0.51218	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.170267	0.49305	D	0.000157	D	0.97486	0.9177	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.98117	1.0423	10	0.62326	D	0.03	.	16.543	0.84407	0.0:0.0:1.0:0.0	.	297	P10589	COT1_HUMAN	N	297	ENSP00000325819:D297N	ENSP00000325819:D297N	D	+	1	0	NR2F1	92949804	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.535000	0.98064	2.205000	0.71048	0.313000	0.20887	GAC		0.657	NR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239293.2	0	NM_005654		5:92924048
DCAF12L1	139170	broad.mit.edu	37	X	125686253	125686253	+	Silent	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:125686253G>A	ENST00000371126.1	-	1	581	c.339C>T	c.(337-339)tgC>tgT	p.C113C		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	113										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						ACTTGGTGCCGCACACCACCT	0.637																																						ENST00000371126.1		NA																	0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(337-339)tgC>tgT		DDB1 and CUL4 associated factor 12-like 1							112.0	85.0	94.0					X																	125686253		2203	4300	6503	SO:0001819	synonymous_variant	139170							g.chrX:125686253G>A	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.339C>T	X.37:g.125686253G>A		False	False		Somatic	0					p.C113C	NM_178470.4	NP_848565.2	WXS	Illumina HiSeq	Phase_I	Q5VU92	DC121_HUMAN			1	581	-			113					Q8IYK3	Silent	SNP	ENST00000371126.1	37	c.339C>T	CCDS14610.1																																																																																				0.637	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	0	NM_178470		X:125686253
PLEKHH3	79990	broad.mit.edu	37	17	40825305	40825305	+	Missense_Mutation	SNP	C	C	T	rs139853357		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr17:40825305C>T	ENST00000591022.1	-	6	1045	c.658G>A	c.(658-660)Ggg>Agg	p.G220R	PLEKHH3_ENST00000293349.6_Missense_Mutation_p.G220R|PLEKHH3_ENST00000412503.1_Missense_Mutation_p.G220R|PLEKHH3_ENST00000456950.2_5'UTR	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	220					signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		TCTGGGTCCCCGCAACTTTCC	0.597																																						ENST00000293349.6		NA																	0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13						c.(658-660)Ggg>Agg		pleckstrin homology domain containing, family H (with MyTH4 domain) member 3		C	ARG/GLY	2,4404	4.2+/-10.8	0,2,2201	64.0	69.0	67.0		658	2.4	0.2	17	dbSNP_134	67	0,8600		0,0,4300	yes	missense	PLEKHH3	NM_024927.4	125	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging	220/794	40825305	2,13004	2203	4300	6503	SO:0001583	missense	79990				signal transduction	cytoskeleton		g.chr17:40825305C>T	BC052978	CCDS11434.1	17q21.2	2013-01-11				ENSG00000068137		"""Pleckstrin homology (PH) domain containing"""	26105	protein-coding gene	gene with protein product						12477932	Standard	NM_024927		Approved	FLJ21019	uc002iau.3	Q7Z736		ENST00000591022.1:c.658G>A	17.37:g.40825305C>T	ENSP00000468678:p.Gly220Arg	True	False		Somatic	0				PLEKHH3_ENST00000591022.1_Missense_Mutation_p.G220R|PLEKHH3_ENST00000412503.1_Missense_Mutation_p.G220R|PLEKHH3_ENST00000456950.2_5'UTR	p.G220R			WXS	Illumina HiSeq	Phase_I	Q7Z736	PKHH3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.14)	6	1088	-		Breast(137;0.00116)	220					C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	Missense_Mutation	SNP	ENST00000591022.1	37	c.658G>A	CCDS11434.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.186768	0.38609	4.54E-4	0.0	ENSG00000068137	ENST00000293349;ENST00000412503	T;T	0.45276	0.9;0.9	5.55	2.39	0.29439	.	0.526619	0.17507	N	0.171775	T	0.19485	0.0468	N	0.14661	0.345	0.09310	N	1	B;B	0.30741	0.143;0.293	B;B	0.15484	0.013;0.01	T	0.13202	-1.0518	10	0.22706	T	0.39	-25.3623	6.8604	0.24064	0.0:0.4169:0.428:0.155	.	220;220	Q7Z736-2;Q7Z736	.;PKHH3_HUMAN	R	220	ENSP00000293349:G220R;ENSP00000411885:G220R	ENSP00000293349:G220R	G	-	1	0	PLEKHH3	38078831	0.000000	0.05858	0.202000	0.23494	0.954000	0.61252	0.178000	0.16820	0.415000	0.25817	0.655000	0.94253	GGG		0.597	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452332.1	0	NM_024927		17:40825305
OSBPL1A	114876	broad.mit.edu	37	18	21894274	21894274	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr18:21894274C>T	ENST00000319481.3	-	12	1114	c.908G>A	c.(907-909)tGc>tAc	p.C303Y	OSBPL1A_ENST00000357041.4_5'Flank	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	303	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					GTCATCAAAGCATTTAATAAA	0.363																																						ENST00000319481.3		NA																	0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(907-909)tGc>tAc		oxysterol binding protein-like 1A							102.0	102.0	102.0					18																	21894274		2203	4300	6503	SO:0001583	missense	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21894274C>T	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.908G>A	18.37:g.21894274C>T	ENSP00000320291:p.Cys303Tyr	False	False		Somatic	0					p.C303Y	NM_080597.3	NP_542164.2	WXS	Illumina HiSeq	Phase_I	Q9BXW6	OSBL1_HUMAN			12	1114	-	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)		303			PH.		B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	ENST00000319481.3	37	c.908G>A	CCDS11884.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.328865	0.81690	.	.	ENSG00000141447	ENST00000319481	T	0.43688	0.94	5.7	5.7	0.88788	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.65260	0.2674	M	0.68593	2.085	0.80722	D	1	D;D	0.76494	0.999;0.995	D;D	0.83275	0.996;0.986	T	0.62676	-0.6804	10	0.45353	T	0.12	-16.9032	19.8161	0.96568	0.0:1.0:0.0:0.0	.	303;303	B0YJ56;Q9BXW6	.;OSBL1_HUMAN	Y	303	ENSP00000320291:C303Y	ENSP00000320291:C303Y	C	-	2	0	OSBPL1A	20148272	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.709000	0.74665	2.680000	0.91292	0.585000	0.79938	TGC		0.363	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	0	NM_080597		18:21894274
TTN	7273	broad.mit.edu	37	2	179438185	179438185	+	Missense_Mutation	SNP	G	G	A	rs55992239		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:179438185G>A	ENST00000591111.1	-	276	67975	c.67751C>T	c.(67750-67752)cCg>cTg	p.P22584L	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P15160L|TTN_ENST00000359218.5_Missense_Mutation_p.P15285L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P24225L|TTN_ENST00000342175.6_Missense_Mutation_p.P15352L|TTN_ENST00000342992.6_Missense_Mutation_p.P21657L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22584	Fibronectin type-III 64. {ECO:0000255|PROSITE-ProRule:PRU00316}.		P -> L. {ECO:0000269|PubMed:17344846}.		adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTTTTGGGCGGATCAGGGGG	0.438													G|||	1	0.000199681	0.0	0.0	5008	,	,		19723	0.0		0.0	False		,,,				2504	0.001					ENST00000589042.1		NA																	0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(72673-72675)cCg>cTg		titin		G	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	0,3808		0,0,1904	99.0	99.0	99.0		45479,64970,45854,46055	6.1	1.0	2	dbSNP_129	99	3,8251		0,3,4124	yes	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	98,98,98,98	0,3,6028	AA,AG,GG		0.0363,0.0,0.0249	probably-damaging,probably-damaging,probably-damaging,probably-damaging	15160/26927,21657/33424,15285/27052,15352/27119	179438185	3,12059	1904	4127	6031	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179438185G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.67751C>T	2.37:g.179438185G>A	ENSP00000465570:p.Pro22584Leu	False	False		Somatic	0				TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P21657L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P15160L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P15352L|TTN_ENST00000591111.1_Missense_Mutation_p.P22584L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P15285L|TTN-AS1_ENST00000456053.1_RNA	p.P24225L	NM_001267550.1	NP_001254479.1	WXS	Illumina HiSeq	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	72898	-			22584			Ig-like 121.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.72674C>T		.	.	.	.	.	.	.	.	.	.	G	15.34	2.804563	0.50315	0.0	3.63E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	6.08	6.08	0.98989	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84656	0.5520	H	0.95402	3.665	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.87855	0.2660	9	0.87932	D	0	.	20.6634	0.99662	0.0:0.0:1.0:0.0	rs55992239	15160;15285;15352;22584	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	21657;15160;15352;15285;15158	ENSP00000343764:P21657L;ENSP00000434586:P15160L;ENSP00000340554:P15352L;ENSP00000352154:P15285L	ENSP00000340554:P15352L	P	-	2	0	TTN	179146431	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.807000	0.99171	2.894000	0.99253	0.655000	0.94253	CCG		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	NM_133378		2:179438185
TUBA1B	10376	broad.mit.edu	37	12	49523505	49523505	+	Splice_Site	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr12:49523505G>A	ENST00000336023.5	-	2	98	c.4C>T	c.(4-6)Cgt>Tgt	p.R2C	RP11-386G11.10_ENST00000552893.1_RNA|RP11-386G11.10_ENST00000547712.1_RNA|RP11-386G11.10_ENST00000551496.1_RNA|RP11-386G11.10_ENST00000548149.1_RNA|RP11-386G11.10_ENST00000547387.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b	2					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						ATGCACTCACGCTGCGGGAAG	0.468																																						ENST00000336023.5		NA																	0				breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						c.(4-6)Cgt>Tgt		tubulin, alpha 1b							51.0	49.0	49.0					12																	49523505		2203	4300	6503	SO:0001630	splice_region_variant	10376				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding	g.chr12:49523505G>A	AF081484	CCDS31792.1	12q13.12	2007-02-12				ENSG00000123416		"""Tubulins"""	18809	protein-coding gene	gene with protein product	"""tubulin, alpha, ubiquitous"""	602530				12054644, 6646120	Standard	NM_006082		Approved	K-ALPHA-1	uc001rtm.3	P68363	OTTHUMG00000170410	ENST00000336023.5:c.4-1C>T	12.37:g.49523505G>A		False	False		Somatic	0				RP11-386G11.10_ENST00000547387.1_RNA	p.R2C	NM_006082.2	NP_006073.2	WXS	Illumina HiSeq	Phase_I	P68363	TBA1B_HUMAN			2	98	-			2					P04687|P05209|Q27I68|Q8WU19	Splice_Site	SNP	ENST00000336023.5	37	c.4C>T	CCDS31792.1	.	.	.	.	.	.	.	.	.	.	g	16.25	3.071607	0.55646	.	.	ENSG00000123416	ENST00000336023;ENST00000551373;ENST00000429203;ENST00000550367	T;T	0.71698	-0.59;-0.59	4.85	4.85	0.62838	Tubulin/FtsZ, GTPase domain (2);	0.000000	0.47455	U	0.000228	D	0.86543	0.5958	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89528	0.3783	10	0.87932	D	0	.	16.7309	0.85434	0.0:0.0:1.0:0.0	.	2	P68363	TBA1B_HUMAN	C	2	ENSP00000336799:R2C;ENSP00000449325:R2C	ENSP00000336799:R2C	R	-	1	0	TUBA1B	47809772	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.776000	0.99001	2.235000	0.73313	0.655000	0.94253	CGT		0.468	TUBA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409005.1	0	NM_006082	Missense_Mutation	12:49523505
SIGLEC7	27036	broad.mit.edu	37	19	51647834	51647834	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:51647834T>C	ENST00000317643.6	+	2	674	c.605T>C	c.(604-606)cTc>cCc	p.L202P	SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Intron	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	202	Ig-like C2-type 1.				cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		TCCTCAGTGCTCACCCTCATC	0.657																																						ENST00000317643.6		NA																	0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29						c.(604-606)cTc>cCc		sialic acid binding Ig-like lectin 7							63.0	62.0	62.0					19																	51647834		2203	4300	6503	SO:0001583	missense	27036				cell adhesion	integral to plasma membrane	receptor activity|sugar binding	g.chr19:51647834T>C	AF170485	CCDS12826.1, CCDS42601.1, CCDS62771.1	19q13.41	2014-03-20			ENSG00000168995	ENSG00000168995		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10876	protein-coding gene	gene with protein product		604410	"""sialic acid binding Ig-like lectin 19, pseudogene"", ""sialic acid binding Ig-like lectin, pseudogene 2"""	SIGLEC19P, SIGLECP2		10567377	Standard	NM_001277201		Approved	SIGLEC-7, p75/AIRM1, QA79, CD328	uc002pvv.1	Q9Y286	OTTHUMG00000182895	ENST00000317643.6:c.605T>C	19.37:g.51647834T>C	ENSP00000323328:p.Leu202Pro	False	False		Somatic	0				SIGLEC7_ENST00000305628.7_Intron|SIGLEC7_ENST00000600577.1_Intron	p.L202P	NM_014385.2	NP_055200.1	WXS	Illumina HiSeq	Phase_I	Q9Y286	SIGL7_HUMAN		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)	2	674	+		all_neural(266;0.0199)	202			Ig-like C2-type 1.		Q9NZQ1|Q9UJ86|Q9UJ87|Q9Y502	Missense_Mutation	SNP	ENST00000317643.6	37	c.605T>C	CCDS12826.1	.	.	.	.	.	.	.	.	.	.	.	14.00	2.404089	0.42613	.	.	ENSG00000168995	ENST00000317643	T	0.09630	2.96	2.9	2.9	0.33743	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.35555	N	0.003139	T	0.34600	0.0903	M	0.90483	3.12	0.43662	D	0.996083	D	0.89917	1.0	D	0.97110	1.0	T	0.16335	-1.0406	10	0.66056	D	0.02	.	7.6424	0.28300	0.0:0.0:0.0:1.0	.	202	Q9Y286	SIGL7_HUMAN	P	202	ENSP00000323328:L202P	ENSP00000323328:L202P	L	+	2	0	SIGLEC7	56339646	0.058000	0.20735	0.647000	0.29507	0.017000	0.09413	3.019000	0.49635	1.360000	0.45960	0.432000	0.28606	CTC		0.657	SIGLEC7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464226.2	0	NM_016543		19:51647834
PCDHA8	56140	broad.mit.edu	37	5	140222650	140222650	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr5:140222650C>T	ENST00000531613.1	+	1	1744	c.1744C>T	c.(1744-1746)Ccg>Tcg	p.P582S	PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.P582S|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	582	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGCTGGTGCCGCGGTCTGT	0.682																																						ENST00000531613.1		NA																	0				NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78						c.(1744-1746)Ccg>Tcg									54.0	58.0	56.0					5																	140222650		2195	4260	6455	SO:0001583	missense	0							g.chr5:140222650C>T	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1744C>T	5.37:g.140222650C>T	ENSP00000434655:p.Pro582Ser	False	False		Somatic	0				PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.P582S|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron	p.P582S	NM_018911.2	NP_061734.1	WXS	Illumina HiSeq	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1744	+			NA					B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.1744C>T	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.336787	0.24253	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.20463	2.07;2.07	3.5	-7.0	0.01599	Cadherin (2);Cadherin-like (1);	0.842667	0.09628	N	0.776582	T	0.09598	0.0236	N	0.16233	0.39	0.09310	N	1	B;B	0.21071	0.051;0.041	B;B	0.16722	0.016;0.009	T	0.28490	-1.0042	10	0.28530	T	0.3	.	7.616	0.28158	0.0:0.4823:0.2798:0.2379	.	582;582	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	S	582	ENSP00000434655:P582S;ENSP00000367363:P582S	ENSP00000367363:P582S	P	+	1	0	PCDHA8	140202834	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	0.284000	0.18864	-2.061000	0.00892	0.306000	0.20318	CCG		0.682	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	0	NM_018911		5:140222650
RPAP1	26015	broad.mit.edu	37	15	41813192	41813192	+	Silent	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr15:41813192C>T	ENST00000304330.4	-	22	3308	c.3192G>A	c.(3190-3192)tcG>tcA	p.S1064S	RPAP1_ENST00000561603.1_Intron	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	1064	Leu-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CTCGGGCTGGCGAGCAATGAG	0.662																																						ENST00000304330.4		NA																	0				NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45						c.(3190-3192)tcG>tcA		RNA polymerase II associated protein 1							50.0	47.0	48.0					15																	41813192		2202	4298	6500	SO:0001819	synonymous_variant	26015					nucleus	DNA binding|DNA-directed RNA polymerase activity	g.chr15:41813192C>T	BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.3192G>A	15.37:g.41813192C>T		False	False		Somatic	0				RPAP1_ENST00000561603.1_Intron	p.S1064S	NM_015540.2	NP_056355.2	WXS	Illumina HiSeq	Phase_I	Q9BWH6	RPAP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)	22	3308	-		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	1064			Leu-rich.		Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Silent	SNP	ENST00000304330.4	37	c.3192G>A	CCDS10079.1																																																																																				0.662	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	0	NM_015540		15:41813192
SOX11	6664	broad.mit.edu	37	2	5833606	5833606	+	Silent	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:5833606G>A	ENST00000322002.3	+	1	808	c.753G>A	c.(751-753)ccG>ccA	p.P251P	AC010729.1_ENST00000455579.2_RNA|AC108025.2_ENST00000420221.1_RNA|AC108025.2_ENST00000453678.1_RNA|AC107057.2_ENST00000458264.1_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	251					cardiac ventricle formation (GO:0003211)|closure of optic fissure (GO:0061386)|cornea development in camera-type eye (GO:0061303)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|hard palate development (GO:0060022)|kidney development (GO:0001822)|lens morphogenesis in camera-type eye (GO:0002089)|limb bud formation (GO:0060174)|lung morphogenesis (GO:0060425)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural crest cell development (GO:0014032)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|neuron differentiation (GO:0030182)|noradrenergic neuron differentiation (GO:0003357)|oligodendrocyte development (GO:0014003)|outflow tract morphogenesis (GO:0003151)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of hippo signaling (GO:0035332)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lens epithelial cell proliferation (GO:2001111)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|signal transduction involved in cell cycle checkpoint (GO:0072395)|skeletal muscle cell differentiation (GO:0035914)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)|somite development (GO:0061053)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|translation (GO:0006412)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|translation factor activity, nucleic acid binding (GO:0008135)			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		AGGAACCACCGCACCAGCAGC	0.657																																						ENST00000322002.3		NA																	0				central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13						c.(751-753)ccG>ccA		SRY (sex determining region Y)-box 11							11.0	10.0	10.0					2																	5833606		2070	4101	6171	SO:0001819	synonymous_variant	6664				cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding	g.chr2:5833606G>A		CCDS1654.1	2p25	2008-05-21			ENSG00000176887	ENSG00000176887		"""SRY (sex determining region Y)-boxes"""	11191	protein-coding gene	gene with protein product	"""SRY-related HMG-box gene 11"""	600898				8666406, 12637543	Standard	NM_003108		Approved		uc002qyj.3	P35716	OTTHUMG00000090333	ENST00000322002.3:c.753G>A	2.37:g.5833606G>A		False	False		Somatic	0					p.P251P	NM_003108.3	NP_003099.1	WXS	Illumina HiSeq	Phase_I	P35716	SOX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.132)	1	808	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		251					Q4ZFV8	Silent	SNP	ENST00000322002.3	37	c.753G>A	CCDS1654.1																																																																																				0.657	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206698.1	0	NM_003108		2:5833606
C1orf101	257044	broad.mit.edu	37	1	244724041	244724041	+	Silent	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:244724041G>A	ENST00000366534.4	+	10	1155	c.1101G>A	c.(1099-1101)aaG>aaA	p.K367K	C1orf101_ENST00000366533.4_Silent_p.K367K|C1orf101_ENST00000366531.3_Silent_p.K216K|C1orf101_ENST00000473875.1_3'UTR	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	367						CatSper complex (GO:0036128)		p.K367N(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			TTCTTCTTAAGTTTGCCAGAT	0.408																																						ENST00000366534.4		NA																	1	Substitution - Missense(1)	p.K367N(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36						c.(1099-1101)aaG>aaA		chromosome 1 open reading frame 101							95.0	97.0	96.0					1																	244724041		2203	4300	6503	SO:0001819	synonymous_variant	257044					integral to membrane		g.chr1:244724041G>A	BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.1101G>A	1.37:g.244724041G>A		True	False		Somatic	0				C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366531.3_Silent_p.K216K|C1orf101_ENST00000366533.4_Silent_p.K367K	p.K367K	NM_001130957.1	NP_001124429.1	WXS	Illumina HiSeq	Phase_I	Q5SY80	CA101_HUMAN	all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)		10	1155	+	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		367					B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Silent	SNP	ENST00000366534.4	37	c.1101G>A	CCDS44340.1																																																																																				0.408	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096701.1	0	NM_173807		1:244724041
CCNO	10309	broad.mit.edu	37	5	54527370	54527370	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr5:54527370G>A	ENST00000282572.4	-	3	1042	c.886C>T	c.(886-888)Cgg>Tgg	p.R296W	RP11-506H20.1_ENST00000506435.1_RNA	NM_021147.3	NP_066970.3	P22674	CCNO_HUMAN	cyclin O	296					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|cell cycle (GO:0007049)|cell division (GO:0051301)|cilium assembly (GO:0042384)|depyrimidination (GO:0045008)|DNA repair (GO:0006281)|embryo development (GO:0009790)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	uracil DNA N-glycosylase activity (GO:0004844)			endometrium(1)|lung(3)|skin(1)	5		Lung NSC(810;4.08e-05)|Breast(144;0.0735)|Prostate(74;0.183)	LUSC - Lung squamous cell carcinoma(15;0.142)|Lung(15;0.161)			CGCGAGACCCGCAGCATGCGG	0.667																																						ENST00000282572.4		NA																	0				endometrium(1)|lung(3)|skin(1)	5						c.(886-888)Cgg>Tgg		cyclin O							34.0	36.0	35.0					5																	54527370		2203	4299	6502	SO:0001583	missense	10309				cell cycle|cell division|depyrimidination|regulation of cyclin-dependent protein kinase activity	nucleoplasm	protein kinase binding|uracil DNA N-glycosylase activity	g.chr5:54527370G>A	M87499	CCDS34157.1	5q11.2	2010-11-15	2007-07-26	2007-07-26	ENSG00000152669	ENSG00000152669			18576	protein-coding gene	gene with protein product		607752	"""cyclin U"""	CCNU			Standard	NR_125346		Approved	UDG2, FLJ22422, UNG2	uc003jpw.3	P22674	OTTHUMG00000162598	ENST00000282572.4:c.886C>T	5.37:g.54527370G>A	ENSP00000282572:p.Arg296Trp	True	False		Somatic	0					p.R296W	NM_021147.3	NP_066970.3	WXS	Illumina HiSeq	Phase_I	P22674	CCNO_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.142)|Lung(15;0.161)		3	1042	-		Lung NSC(810;4.08e-05)|Breast(144;0.0735)|Prostate(74;0.183)	296					A8K1W5|Q0P6J2|Q9H6B0|Q9UMD5	Missense_Mutation	SNP	ENST00000282572.4	37	c.886C>T	CCDS34157.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.540955	0.45280	.	.	ENSG00000152669	ENST00000282572	T	0.44881	0.91	5.61	-1.39	0.08997	Cyclin, C-terminal (1);Cyclin-like (3);	1.557100	0.03904	N	0.280760	T	0.30823	0.0777	N	0.14661	0.345	0.09310	N	1	D	0.58620	0.983	P	0.47376	0.545	T	0.28004	-1.0057	10	0.72032	D	0.01	.	5.1563	0.15036	0.0643:0.1857:0.3444:0.4056	.	296	P22674	CCNO_HUMAN	W	296	ENSP00000282572:R296W	ENSP00000282572:R296W	R	-	1	2	CCNO	54563127	0.030000	0.19436	0.006000	0.13384	0.430000	0.31655	0.723000	0.25939	0.006000	0.14734	-0.500000	0.04577	CGG		0.667	CCNO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369707.1	0	NM_021147		5:54527370
SMAD4	4089	broad.mit.edu	37	18	48575209	48575209	+	Nonsense_Mutation	SNP	C	C	T	rs377767326		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr18:48575209C>T	ENST00000342988.3	+	3	941	c.403C>T	c.(403-405)Cga>Tga	p.R135*	RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.R135*|SMAD4_ENST00000452201.2_Nonsense_Mutation_p.R135*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.R135*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	135	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.R135*(4)|p.?(4)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TCACTACGAACGAGTTGTATC	0.328																																						ENST00000342988.3		NA																	44	Whole gene deletion(36)|Substitution - Nonsense(4)|Unknown(4)	p.0?(36)|p.R135*(4)|p.?(4)	pancreas(27)|large_intestine(4)|stomach(3)|breast(3)|upper_aerodigestive_tract(2)|lung(2)|gastrointestinal_tract_(site_indeterminate)(1)|oesophagus(1)|NS(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454	GRCh37	CM064283	SMAD4	M		c.(403-405)Cga>Tga		SMAD family member 4							128.0	115.0	119.0					18																	48575209		2203	4300	6503	SO:0001587	stop_gained	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48575209C>T	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.403C>T	18.37:g.48575209C>T	ENSP00000341551:p.Arg135*	True	False		Somatic	0				SMAD4_ENST00000588745.1_Nonsense_Mutation_p.R135*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.R135*|SMAD4_ENST00000452201.2_Nonsense_Mutation_p.R135*|RP11-729L2.2_ENST00000590722.2_3'UTR	p.R135*	NM_005359.5	NP_005350.1	WXS	Illumina HiSeq	Phase_I	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	3	941	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	135			MH1.		A8K405	Nonsense_Mutation	SNP	ENST00000342988.3	37	c.403C>T	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	C	42	9.183954	0.99092	.	.	ENSG00000141646	ENST00000452201;ENST00000342988;ENST00000544926;ENST00000398417	.	.	.	5.48	4.57	0.56435	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.5925	0.68378	0.1465:0.8535:0.0:0.0	.	.	.	.	X	135	.	ENSP00000341551:R135X	R	+	1	2	SMAD4	46829207	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	0.732000	0.26072	2.540000	0.85666	0.585000	0.79938	CGA		0.328	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	0	NM_005359		18:48575209
MGAT2	4247	broad.mit.edu	37	14	50088597	50088597	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr14:50088597C>T	ENST00000305386.2	+	1	1109	c.611C>T	c.(610-612)gCc>gTc	p.A204V	RPL36AL_ENST00000298289.6_5'Flank|RP11-649E7.5_ENST00000555043.1_RNA	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	204					cellular protein metabolic process (GO:0044267)|oligosaccharide biosynthetic process (GO:0009312)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0008455)|carbohydrate binding (GO:0030246)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					CCGAAGAATGCCGCTTTGAAA	0.502																																						ENST00000305386.2		NA																	0				cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11						c.(610-612)gCc>gTc		mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase							110.0	108.0	109.0					14																	50088597		2203	4300	6503	SO:0001583	missense	4247				oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity	g.chr14:50088597C>T	U15128	CCDS9690.1	14q21	2013-02-25			ENSG00000168282	ENSG00000168282	2.4.1.143	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7045	protein-coding gene	gene with protein product		602616				7635144	Standard	NM_002408		Approved	GNT-II	uc001wwr.3	Q10469	OTTHUMG00000140271	ENST00000305386.2:c.611C>T	14.37:g.50088597C>T	ENSP00000307423:p.Ala204Val	False	False		Somatic	0				RP11-649E7.5_ENST00000555043.1_RNA	p.A204V	NM_002408.3	NP_002399.1	WXS	Illumina HiSeq	Phase_I	Q10469	MGAT2_HUMAN			1	1109	+	all_epithelial(31;0.0021)|Breast(41;0.0124)		204					B3KPC5|B3KQM0	Missense_Mutation	SNP	ENST00000305386.2	37	c.611C>T	CCDS9690.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.111448	0.37242	.	.	ENSG00000168282	ENST00000305386;ENST00000504161	D	0.88586	-2.4	6.0	4.05	0.47172	.	0.297229	0.35772	N	0.002990	D	0.84151	0.5409	L	0.36672	1.1	0.32186	N	0.57978	B	0.20164	0.042	B	0.28305	0.088	T	0.82491	-0.0431	10	0.30078	T	0.28	-7.4052	13.5965	0.61994	0.3978:0.6022:0.0:0.0	.	204	Q10469	MGAT2_HUMAN	V	204;210	ENSP00000307423:A204V	ENSP00000307423:A204V	A	+	2	0	MGAT2	49158347	0.998000	0.40836	0.994000	0.49952	0.897000	0.52465	3.624000	0.54231	1.520000	0.48965	0.555000	0.69702	GCC		0.502	MGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276807.1	0	NM_002408		14:50088597
MAPK15	225689	broad.mit.edu	37	8	144804265	144804265	+	Silent	SNP	G	G	A	rs369868387	byFrequency	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr8:144804265G>A	ENST00000338033.4	+	14	1598	c.1479G>A	c.(1477-1479)ccG>ccA	p.P493P		NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	493					MAPK cascade (GO:0000165)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|SH3 domain binding (GO:0017124)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGCTTCCTCCGGAGGCCCGGC	0.652													g|||	2	0.000399361	0.0	0.0	5008	,	,		11717	0.0		0.0	False		,,,				2504	0.002					ENST00000338033.4		NA																	0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12						c.(1477-1479)ccG>ccA		mitogen-activated protein kinase 15		G		1,3737		0,1,1868	57.0	65.0	63.0		1479	-0.7	0.0	8		63	1,8163		0,1,4081	no	coding-synonymous	MAPK15	NM_139021.2		0,2,5949	AA,AG,GG		0.0122,0.0268,0.0168		493/545	144804265	2,11900	1869	4082	5951	SO:0001819	synonymous_variant	225689				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding	g.chr8:144804265G>A	AY065978	CCDS6409.2	8q24.3	2011-06-09			ENSG00000181085	ENSG00000181085		"""Mitogen-activated protein kinase cascade / Kinases"""	24667	protein-coding gene	gene with protein product	"""extracellular signal regulated kinase 8"""					11875070	Standard	XM_006716528		Approved	ERK8, ERK7	uc003yzj.3	Q8TD08	OTTHUMG00000146450	ENST00000338033.4:c.1479G>A	8.37:g.144804265G>A		False	False		Somatic	0					p.P493P	NM_139021.2	NP_620590.2	WXS	Illumina HiSeq	Phase_I	Q8TD08	MK15_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		14	1598	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		493					Q2TCF9|Q8N362	Silent	SNP	ENST00000338033.4	37	c.1479G>A	CCDS6409.2																																																																																				0.652	MAPK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000300348.1	0	NM_139021		8:144804265
MCM5	4174	broad.mit.edu	37	22	35796511	35796511	+	Missense_Mutation	SNP	G	G	A	rs367630495		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr22:35796511G>A	ENST00000216122.4	+	2	234	c.80G>A	c.(79-81)cGc>cAc	p.R27H	MCM5_ENST00000382011.5_Missense_Mutation_p.R27H	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	27					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						GGGCAGGCCCGCAAATCGCAG	0.647																																						ENST00000216122.4		NA																	0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(79-81)cGc>cAc		minichromosome maintenance complex component 5							37.0	42.0	40.0					22																	35796511		2203	4299	6502	SO:0001583	missense	4174				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr22:35796511G>A		CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297			6948	protein-coding gene	gene with protein product		602696	"""minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)"", ""MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"""	CDC46		8751386, 10591208	Standard	NM_006739		Approved		uc003anu.4	P33992	OTTHUMG00000150961	ENST00000216122.4:c.80G>A	22.37:g.35796511G>A	ENSP00000216122:p.Arg27His	True	False		Somatic	0				MCM5_ENST00000382011.5_Missense_Mutation_p.R27H	p.R27H	NM_006739.3	NP_006730.2	WXS	Illumina HiSeq	Phase_I	P33992	MCM5_HUMAN			2	234	+			27					O60785|Q14578|Q9BTJ4|Q9BWL8	Missense_Mutation	SNP	ENST00000216122.4	37	c.80G>A	CCDS13915.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874705	0.72180	.	.	ENSG00000100297	ENST00000216122;ENST00000382011;ENST00000416905	T;T;T	0.31247	4.19;3.84;1.5	5.08	5.08	0.68730	.	0.420814	0.26563	N	0.023669	T	0.14787	0.0357	N	0.03608	-0.345	0.41628	D	0.989009	B;B	0.11235	0.004;0.004	B;B	0.04013	0.001;0.001	T	0.07195	-1.0785	10	0.41790	T	0.15	-21.2565	11.5797	0.50883	0.0832:0.0:0.9168:0.0	.	27;27	B1AHB1;P33992	.;MCM5_HUMAN	H	27	ENSP00000216122:R27H;ENSP00000371441:R27H;ENSP00000393977:R27H	ENSP00000216122:R27H	R	+	2	0	MCM5	34126511	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.291000	0.72719	2.342000	0.79632	0.455000	0.32223	CGC		0.647	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320661.3	0			22:35796511
DLG3	1741	broad.mit.edu	37	X	69713266	69713266	+	Intron	SNP	G	G	A	rs181757438		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:69713266G>A	ENST00000374360.3	+	12	2006				DLG3_ENST00000374355.3_Missense_Mutation_p.R268Q|DLG3_ENST00000542398.1_Missense_Mutation_p.R122Q|DLG3_ENST00000194900.4_Intron	NM_021120.3	NP_066943.2	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)						axon guidance (GO:0007411)|establishment of planar polarity (GO:0001736)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphatase activity (GO:0010923)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)|tight junction (GO:0005923)	phosphatase binding (GO:0019902)			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					CGCCTCTCTCGAAAGTTTCCA	0.448																																						ENST00000374355.3		NA																	0				endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22						c.(802-804)cGa>cAa		discs, large homolog 3 (Drosophila)							60.0	51.0	54.0					X																	69713266		1985	4147	6132	SO:0001627	intron_variant	1741				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity	g.chrX:69713266G>A	U49089	CCDS14403.1, CCDS43967.1, CCDS55439.1	Xq13.1	2014-06-12	2008-12-15		ENSG00000082458	ENSG00000082458			2902	protein-coding gene	gene with protein product	"""neuroendocrine-dlg"", ""protein phosphatase 1, regulatory subunit 82"""	300189	"""discs, large homolog 3 (neuroendocrine-dlg, Drosophila)"""			9598320	Standard	NM_021120		Approved	NE-Dlg, SAP102, SAP-102, NEDLG, KIAA1232, MRX90, PPP1R82	uc004dyi.2	Q92796	OTTHUMG00000021778	ENST00000374360.3:c.1773+820G>A	X.37:g.69713266G>A		True	False		Somatic	0				DLG3_ENST00000542398.1_Missense_Mutation_p.R122Q|DLG3_ENST00000374360.3_Intron|DLG3_ENST00000194900.4_Intron	p.R268Q	NM_020730.2	NP_065781.1	WXS	Illumina HiSeq	Phase_I	Q92796	DLG3_HUMAN			7	1120	+	Renal(35;0.156)		592			PDZ 2.		B4E0H1|D3DVU5|Q5JUW6|Q5JUW7|Q9ULI8	Missense_Mutation	SNP	ENST00000374360.3	37	c.803G>A	CCDS14403.1	1	6.027727546714888E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	15.94	2.980848	0.53827	.	.	ENSG00000082458	ENST00000374355;ENST00000542398	T;T	0.17854	2.25;2.99	4.79	3.92	0.45320	.	.	.	.	.	T	0.11836	0.0288	.	.	.	0.26602	N	0.972998	B;B	0.16166	0.016;0.016	B;B	0.10450	0.004;0.005	T	0.25710	-1.0124	7	.	.	.	.	11.3159	0.49392	0.0898:0.0:0.9102:0.0	.	122;268	B4E0H1;Q5JUW6	.;.	Q	268;122	ENSP00000363475:R268Q;ENSP00000441393:R122Q	.	R	+	2	0	DLG3	69629991	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.184000	0.94893	1.015000	0.39444	-0.192000	0.12808	CGA		0.448	DLG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057074.2	0	NM_021120		X:69713266
SLC12A9	56996	broad.mit.edu	37	7	100463601	100463601	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr7:100463601C>T	ENST00000354161.3	+	14	2244	c.2119C>T	c.(2119-2121)Ccc>Tcc	p.P707S	TRIP6_ENST00000200457.4_5'Flank	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	707					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CGGGGCCTTGCCCCCTGAGCG	0.711																																						ENST00000354161.3		NA																	0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41						c.(2119-2121)Ccc>Tcc		solute carrier family 12, member 9							39.0	51.0	47.0					7																	100463601		2186	4270	6456	SO:0001583	missense	56996					integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100463601C>T	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.2119C>T	7.37:g.100463601C>T	ENSP00000275730:p.Pro707Ser	True	False		Somatic	0					p.P707S	NM_020246.3	NP_064631.2	WXS	Illumina HiSeq	Phase_I	Q9BXP2	S12A9_HUMAN			14	2244	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		707					B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Missense_Mutation	SNP	ENST00000354161.3	37	c.2119C>T	CCDS5707.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.394309	0.42410	.	.	ENSG00000146828	ENST00000354161;ENST00000539308	D	0.90504	-2.68	5.44	5.44	0.79542	.	0.153325	0.42420	D	0.000713	D	0.86569	0.5964	L	0.38838	1.175	0.80722	D	1	B	0.10296	0.003	B	0.12837	0.008	T	0.81514	-0.0898	10	0.32370	T	0.25	.	16.7553	0.85498	0.0:1.0:0.0:0.0	.	707	Q9BXP2	S12A9_HUMAN	S	707;333	ENSP00000275730:P707S	ENSP00000275730:P707S	P	+	1	0	SLC12A9	100301537	0.942000	0.31987	1.000000	0.80357	0.717000	0.41224	2.321000	0.43805	2.564000	0.86499	0.555000	0.69702	CCC		0.711	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	0	NM_020246		7:100463601
VWA3B	200403	broad.mit.edu	37	2	98928694	98928694	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:98928694G>A	ENST00000477737.1	+	28	3971	c.3767G>A	c.(3766-3768)cGt>cAt	p.R1256H	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1256										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GCGGCCGGGCGTCTAGGACTC	0.607																																						ENST00000477737.1		NA																	0				NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(3766-3768)cGt>cAt		von Willebrand factor A domain containing 3B							48.0	57.0	54.0					2																	98928694		2088	4216	6304	SO:0001583	missense	200403							g.chr2:98928694G>A	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.3767G>A	2.37:g.98928694G>A	ENSP00000417955:p.Arg1256His	False	False		Somatic	0				VWA3B_ENST00000490947.2_3'UTR	p.R1256H	NM_144992.4	NP_659429.4	WXS	Illumina HiSeq	Phase_I	Q502W6	VWA3B_HUMAN			28	3971	+			1256					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.3767G>A	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	G	9.632	1.136653	0.21123	.	.	ENSG00000168658	ENST00000477737;ENST00000473149;ENST00000358269	T	0.07216	3.21	4.09	-2.35	0.06684	.	.	.	.	.	T	0.03136	0.0092	N	0.08118	0	0.09310	N	1	B	0.21452	0.056	B	0.13407	0.009	T	0.41466	-0.9507	9	0.39692	T	0.17	.	1.1526	0.01789	0.3414:0.1436:0.3684:0.1466	.	1256	Q502W6	VWA3B_HUMAN	H	1256;722;378	ENSP00000417955:R1256H	ENSP00000351009:R378H	R	+	2	0	VWA3B	98295126	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.062000	0.11674	-0.480000	0.06803	-1.121000	0.02013	CGT		0.607	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	0	NM_144992		2:98928694
RANBP2	5903	broad.mit.edu	37	2	109367844	109367844	+	Missense_Mutation	SNP	T	T	G			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:109367844T>G	ENST00000283195.6	+	10	1524	c.1398T>G	c.(1396-1398)caT>caG	p.H466Q		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	466					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.H466Q(6)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTTGCCCCATGAAACCTCAA	0.358																																						ENST00000283195.6		NA																RANBP2/ALK(34)	6	Substitution - Missense(6)	p.H466Q(6)	endometrium(6)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(1396-1398)caT>caG		RAN binding protein 2							69.0	78.0	75.0					2																	109367844		1510	2703	4213	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109367844T>G	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.1398T>G	2.37:g.109367844T>G	ENSP00000283195:p.His466Gln	False	False		Somatic	0					p.H466Q	NM_006267.4	NP_006258.3	WXS	Illumina HiSeq	Phase_I	P49792	RBP2_HUMAN			10	1524	+			466					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.1398T>G	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	2.180	-0.387877	0.04932	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	D	0.82526	-1.62	5.25	2.44	0.29823	.	.	.	.	.	T	0.43545	0.1252	N	0.00197	-1.87	0.20563	N	0.999888	B	0.02656	0.0	B	0.01281	0.0	T	0.50039	-0.8874	9	0.02654	T	1	-0.0972	5.4961	0.16804	0.3195:0.0:0.5396:0.1409	.	466	P49792	RBP2_HUMAN	Q	466	ENSP00000283195:H466Q	ENSP00000283195:H466Q	H	+	3	2	RANBP2	108734276	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.307000	0.43682	0.319000	0.23209	-0.127000	0.14921	CAT		0.358	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	0	NM_006267		2:109367844
SLC5A11	115584	broad.mit.edu	37	16	24883505	24883505	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr16:24883505G>A	ENST00000347898.3	+	5	959	c.337G>A	c.(337-339)Gcc>Acc	p.A113T	SLC5A11_ENST00000424767.2_Missense_Mutation_p.A113T|SLC5A11_ENST00000569071.1_Missense_Mutation_p.A49T|SLC5A11_ENST00000545376.1_Missense_Mutation_p.A78T|SLC5A11_ENST00000539472.1_Missense_Mutation_p.A49T|SLC5A11_ENST00000449109.2_Missense_Mutation_p.A49T|SLC5A11_ENST00000568579.1_Missense_Mutation_p.A78T|SLC5A11_ENST00000567758.1_Missense_Mutation_p.A113T|SLC5A11_ENST00000565769.1_Missense_Mutation_p.A49T	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		GCTGATGTTGGCCTGGATCTT	0.517																																						ENST00000347898.3		NA																	0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49						c.(337-339)Gcc>Acc		solute carrier family 5 (sodium/inositol cotransporter), member 11							327.0	295.0	306.0					16																	24883505		2197	4300	6497	SO:0001583	missense	115584				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	g.chr16:24883505G>A	AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"""Solute carriers"""	23091	protein-coding gene	gene with protein product		610238	"""solute carrier family 5 (sodium/glucose cotransporter), member 11"""			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.337G>A	16.37:g.24883505G>A	ENSP00000289932:p.Ala113Thr	False	False		Somatic	0				SLC5A11_ENST00000565769.1_Missense_Mutation_p.A49T|SLC5A11_ENST00000539472.1_Missense_Mutation_p.A49T|SLC5A11_ENST00000424767.2_Missense_Mutation_p.A113T|SLC5A11_ENST00000568579.1_Missense_Mutation_p.A78T|SLC5A11_ENST00000567758.1_Missense_Mutation_p.A113T|SLC5A11_ENST00000569071.1_Missense_Mutation_p.A49T|SLC5A11_ENST00000545376.1_Missense_Mutation_p.A78T|SLC5A11_ENST00000449109.2_Missense_Mutation_p.A49T	p.A113T	NM_052944.3	NP_443176.2	WXS	Illumina HiSeq	Phase_I	Q8WWX8	SC5AB_HUMAN		GBM - Glioblastoma multiforme(48;0.0365)	5	959	+			113						Missense_Mutation	SNP	ENST00000347898.3	37	c.337G>A	CCDS10625.1	.	.	.	.	.	.	.	.	.	.	g	22.0	4.226797	0.79576	.	.	ENSG00000158865	ENST00000347898;ENST00000449109;ENST00000424767;ENST00000545376;ENST00000539472	D;D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.25;-2.3	4.89	-1.42	0.08913	.	0.240762	0.41001	D	0.000971	D	0.93396	0.7894	M	0.91140	3.18	0.37318	D	0.909431	P;P;B;D	0.64830	0.783;0.877;0.444;0.994	P;P;B;D	0.69479	0.542;0.628;0.36;0.964	D	0.93660	0.6981	10	0.87932	D	0	.	13.9133	0.63881	0.0:0.0:0.3469:0.6531	.	78;113;113;49	B7Z329;Q8WWX8-2;Q8WWX8;Q05BF1	.;.;SC5AB_HUMAN;.	T	113;49;113;78;49	ENSP00000289932:A113T;ENSP00000389606:A49T;ENSP00000416782:A113T;ENSP00000441384:A78T;ENSP00000441018:A49T	ENSP00000289932:A113T	A	+	1	0	SLC5A11	24791006	1.000000	0.71417	0.976000	0.42696	0.994000	0.84299	0.404000	0.20999	-0.547000	0.06207	0.443000	0.29094	GCC		0.517	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3	0	NM_052944		16:24883505
TMEM63A	9725	broad.mit.edu	37	1	226037743	226037743	+	Silent	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:226037743C>T	ENST00000366835.3	-	21	2211	c.1941G>A	c.(1939-1941)cgG>cgA	p.R647R		NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	647					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					AGAGGTTGTGCCGGTCCACCA	0.602																																						ENST00000366835.3		NA																	0				breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(1939-1941)cgG>cgA		transmembrane protein 63A							132.0	118.0	122.0					1																	226037743		2203	4300	6503	SO:0001819	synonymous_variant	9725					integral to membrane|lysosomal membrane	nucleotide binding	g.chr1:226037743C>T		CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"""KIAA0792"""	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.1941G>A	1.37:g.226037743C>T		False	False		Somatic	0					p.R647R	NM_014698.2	NP_055513.2	WXS	Illumina HiSeq	Phase_I	O94886	TM63A_HUMAN			21	2211	-	Breast(184;0.197)		647					Q53GI7|Q5TE96|Q8N2U2	Silent	SNP	ENST00000366835.3	37	c.1941G>A	CCDS31042.1																																																																																				0.602	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091154.2	0	NM_014698		1:226037743
ALPK2	115701	broad.mit.edu	37	18	56204451	56204451	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr18:56204451T>C	ENST00000361673.3	-	5	3181	c.2968A>G	c.(2968-2970)Aca>Gca	p.T990A	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	990						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GTTAATGTTGTTGGCTTCTCC	0.488																																						ENST00000361673.3		NA																	0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(2968-2970)Aca>Gca		alpha-kinase 2							109.0	101.0	104.0					18																	56204451		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56204451T>C	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.2968A>G	18.37:g.56204451T>C	ENSP00000354991:p.Thr990Ala	False	False		Somatic	0				RP11-1151B14.4_ENST00000591360.1_RNA	p.T990A	NM_052947.3	NP_443179.3	WXS	Illumina HiSeq	Phase_I	Q86TB3	ALPK2_HUMAN			5	3181	-			990					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.2968A>G	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	T	9.351	1.065556	0.20067	.	.	ENSG00000198796	ENST00000361673	T	0.52295	0.67	5.41	-6.33	0.01988	.	1.692290	0.03097	N	0.160562	T	0.28234	0.0697	L	0.31926	0.97	0.09310	N	1	B;B	0.22909	0.077;0.046	B;B	0.19391	0.025;0.011	T	0.07986	-1.0744	10	0.22109	T	0.4	0.3807	0.8581	0.01187	0.2972:0.1997:0.0999:0.4031	.	990;990	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	A	990	ENSP00000354991:T990A	ENSP00000354991:T990A	T	-	1	0	ALPK2	54355431	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.379000	0.07437	-1.405000	0.02048	-2.480000	0.00198	ACA		0.488	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	0	NM_052947		18:56204451
NEB	4703	broad.mit.edu	37	2	152420121	152420121	+	Splice_Site	SNP	G	G	A	rs375357016		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:152420121G>A	ENST00000172853.10	-	91	13736	c.13589C>T	c.(13588-13590)gCg>gTg	p.A4530V	NEB_ENST00000604864.1_Splice_Site_p.A6231V|NEB_ENST00000397345.3_Splice_Site_p.A6231V|NEB_ENST00000409198.1_Splice_Site_p.A4530V|NEB_ENST00000603639.1_Splice_Site_p.A6231V|NEB_ENST00000427231.2_Splice_Site_p.A6231V			P20929	NEBU_HUMAN	nebulin	4530					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.A4530E(1)|p.A6231E(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTTACTTACCGCACTCCTCAT	0.473																																						ENST00000397345.3		NA																	2	Substitution - Missense(2)	p.A4530E(1)|p.A6231E(1)	endometrium(2)	NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(18691-18693)gCg>gTg		nebulin		G	VAL/ALA,VAL/ALA,VAL/ALA	1,3955		0,1,1977	234.0	222.0	226.0		13589,18692,18692	-5.0	0.5	2		226	0,8318		0,0,4159	no	missense-near-splice,missense-near-splice,missense-near-splice	NEB	NM_004543.4,NM_001164508.1,NM_001164507.1	64,64,64	0,1,6136	AA,AG,GG		0.0,0.0253,0.0081	benign,benign,benign	4530/6670,6231/8526,6231/8526	152420121	1,12273	1978	4159	6137	SO:0001630	splice_region_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152420121G>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.13590+1C>T	2.37:g.152420121G>A		False	False		Somatic	0				NEB_ENST00000172853.10_Splice_Site_p.A4530V|NEB_ENST00000603639.1_Splice_Site_p.A6231V|NEB_ENST00000427231.2_Splice_Site_p.A6231V|NEB_ENST00000604864.1_Splice_Site_p.A6231V|NEB_ENST00000409198.1_Splice_Site_p.A4530V	p.A6231V	NM_001164508.1	NP_001157980	WXS	Illumina HiSeq	Phase_I	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	119	18894	-			6213					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Splice_Site	SNP	ENST00000172853.10	37	c.18692C>T		.	.	.	.	.	.	.	.	.	.	G	13.40	2.225906	0.39300	2.53E-4	0.0	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45	5.54	-4.98	0.03019	.	0.604415	0.18713	N	0.133230	T	0.22859	0.0552	L	0.44542	1.39	0.80722	D	1	B;B	0.11235	0.001;0.004	B;B	0.11329	0.003;0.006	T	0.01805	-1.1270	10	0.39692	T	0.17	.	14.0005	0.64431	0.6299:0.0:0.3701:0.0	.	4530;961	P20929;Q14215	NEBU_HUMAN;.	V	4530;6231;6231;579;961;4530	ENSP00000386259:A4530V;ENSP00000380505:A6231V;ENSP00000416578:A6231V;ENSP00000410961:A961V;ENSP00000172853:A4530V	ENSP00000172853:A4530V	A	-	2	0	NEB	152128367	0.876000	0.30132	0.537000	0.28052	0.860000	0.49131	0.075000	0.14686	-1.451000	0.01933	-0.259000	0.10710	GCG		0.473	NEB-201	KNOWN	basic	protein_coding	protein_coding		0	NM_004543	Missense_Mutation	2:152420121
GALNT18	374378	broad.mit.edu	37	11	11398786	11398786	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr11:11398786C>T	ENST00000227756.4	-	5	1331	c.920G>A	c.(919-921)cGc>cAc	p.R307H		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	307					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										ATTTAGGTAGCGGCACCACAG	0.532																																						ENST00000227756.4		NA																	0					NA						c.(919-921)cGc>cAc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18							71.0	69.0	70.0					11																	11398786		2201	4294	6495	SO:0001583	missense	374378							g.chr11:11398786C>T	AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	30488	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 18"""	615136	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"""	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.920G>A	11.37:g.11398786C>T	ENSP00000227756:p.Arg307His	False	False		Somatic	0					p.R307H	NM_198516.2	NP_940918.2	WXS	Illumina HiSeq	Phase_I					5	1331	-			NA					O95903|Q8NDY9	Missense_Mutation	SNP	ENST00000227756.4	37	c.920G>A	CCDS7807.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.054867	0.75960	.	.	ENSG00000110328	ENST00000227756	T	0.59364	0.27	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.68485	0.3006	L	0.45744	1.44	0.48236	D	0.999614	D	0.89917	1.0	D	0.85130	0.997	T	0.68424	-0.5412	10	0.49607	T	0.09	.	12.6283	0.56642	0.1657:0.8343:0.0:0.0	.	307	Q6P9A2	GLTL4_HUMAN	H	307	ENSP00000227756:R307H	ENSP00000227756:R307H	R	-	2	0	GALNTL4	11355362	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.708000	0.61859	2.473000	0.83533	0.655000	0.94253	CGC		0.532	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385848.1	0	NM_198516		11:11398786
TXNRD3NB	645840	broad.mit.edu	37	3	126291164	126291164	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr3:126291164G>T	ENST00000404489.2	-	1	315	c.223C>A	c.(223-225)Ctg>Atg	p.L75M	TXNRD3NB_ENST00000383572.2_Missense_Mutation_p.L75M			Q6F5E7	TR3N_HUMAN	thioredoxin reductase 3 neighbor	75										endometrium(1)|large_intestine(2)|skin(2)	5						ctggcttgcagtgccctggAG	0.542																																						ENST00000383572.2		NA																	0				endometrium(1)|large_intestine(2)|skin(2)	5						c.(223-225)Ctg>Atg		thioredoxin reductase 3 neighbor							59.0	60.0	60.0					3																	126291164		2203	4300	6503	SO:0001583	missense	645840							g.chr3:126291164G>T	BC130546	CCDS33846.1	3q21.3	2011-04-13	2011-04-13	2011-04-13	ENSG00000206483	ENSG00000206483			33870	protein-coding gene	gene with protein product	"""thioredoxin reductase 3 new transcript 1"""		"""thioredoxin reductase 3 intronic transcript 1"""	TXNRD3IT1		15674732	Standard	NM_001039783		Approved	TR2IT1, TXNRD3NT1	uc003ejc.3	Q6F5E7	OTTHUMG00000162732	ENST00000404489.2:c.223C>A	3.37:g.126291164G>T	ENSP00000384071:p.Leu75Met	False	False		Somatic	0				TXNRD3NB_ENST00000404489.2_Missense_Mutation_p.L75M	p.L75M	NM_001039783.1	NP_001034872.1	WXS	Illumina HiSeq	Phase_I	Q6F5E7	TR3N_HUMAN			3	701	-			75						Missense_Mutation	SNP	ENST00000404489.2	37	c.223C>A	CCDS33846.1	.	.	.	.	.	.	.	.	.	.	G	0.878	-0.729854	0.03135	.	.	ENSG00000206483	ENST00000383572;ENST00000404489	.	.	.	0.661	0.661	0.17874	.	.	.	.	.	T	0.34600	0.0903	N	0.08118	0	0.09310	N	1	D	0.69078	0.997	D	0.72982	0.979	T	0.22312	-1.0220	7	0.87932	D	0	.	.	.	.	.	75	Q6F5E7	TR3N_HUMAN	M	75	.	ENSP00000373066:L75M	L	-	1	2	TXNRD3NB	127773854	0.001000	0.12720	0.003000	0.11579	0.012000	0.07955	0.026000	0.13599	0.639000	0.30564	0.467000	0.42956	CTG		0.542	TXNRD3NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370233.2	0	NM_001039783		3:126291164
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	False	False	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic	0				KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	WXS	Illumina HiSeq	Phase_I	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	NM_033360		12:25398284
GDI1	2664	broad.mit.edu	37	X	153665646	153665646	+	Splice_Site	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:153665646G>A	ENST00000447750.2	+	1	380		c.e1+1			NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1						negative regulation of axonogenesis (GO:0050771)|negative regulation of protein targeting to membrane (GO:0090315)|protein transport (GO:0015031)|Rab protein signal transduction (GO:0032482)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|midbody (GO:0030496)|neuron projection (GO:0043005)|protein complex (GO:0043234)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|Rab GDP-dissociation inhibitor activity (GO:0005093)			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGGTCTCACCGTAAGTGCGGC	0.697																																						ENST00000447750.2		NA																	0				autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16						c.e1+1		GDP dissociation inhibitor 1							68.0	45.0	53.0					X																	153665646		2201	4300	6501	SO:0001630	splice_region_variant	2664				protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding	g.chrX:153665646G>A	X79353	CCDS35452.1	Xq28	2008-08-01			ENSG00000203879	ENSG00000203879			4226	protein-coding gene	gene with protein product	"""mental retardation, X-linked 41"", ""mental retardation, X-linked 48"", ""rab GDP-dissociation inhibitor, alpha"""	300104		MRX48, MRX41, GDIL		7543319, 7849400	Standard	NM_001493		Approved	RABGDIA, XAP-4, OPHN2, FLJ41411	uc004fli.4	P31150	OTTHUMG00000033293	ENST00000447750.2:c.45+1G>A	X.37:g.153665646G>A		False	False		Somatic	0						NM_001493.2	NP_001484.1	WXS	Illumina HiSeq	Phase_I	P31150	GDIA_HUMAN			1	380	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		NA					P50394|Q6FG50|Q7Z2G6|Q7Z2G9|Q7Z2H5|Q7Z2I6	Splice_Site	SNP	ENST00000447750.2	37		CCDS35452.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.469539	0.43839	.	.	ENSG00000203879	ENST00000447750;ENST00000369741	.	.	.	3.71	3.71	0.42584	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1083	0.53825	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GDI1	153318840	1.000000	0.71417	0.982000	0.44146	0.236000	0.25371	8.579000	0.90781	1.690000	0.51089	0.284000	0.19432	.		0.697	GDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081649.2	0	NM_001493	Intron	X:153665646
OR7E91P	79315	broad.mit.edu	37	2	71256928	71256928	+	RNA	SNP	A	A	T	rs372003181	byFrequency	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:71256928A>T	ENST00000434990.1	-	0	61																											TTTCATCTACAGCCTGAGAAA	0.527													-|||	3	0.000599042	0.0008	0.0014	5008	,	,		20696	0.0		0.0	False		,,,				2504	0.001					ENST00000434990.1		NA																	0					NA																																														0							g.chr2:71256928A>T																													2.37:g.71256928A>T		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	61	-			NA						RNA	SNP	ENST00000434990.1	37																																																																																						0.527	AC007040.8-001	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000332235.4	0			2:71256928
DMXL1	1657	broad.mit.edu	37	5	118484750	118484750	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr5:118484750G>T	ENST00000311085.8	+	18	3308	c.3228G>T	c.(3226-3228)atG>atT	p.M1076I	DMXL1_ENST00000539542.1_Missense_Mutation_p.M1076I	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1076										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ACTTTGTGATGCATGTAAGTA	0.413																																						ENST00000311085.8		NA																	0				breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(3226-3228)atG>atT		Dmx-like 1							156.0	158.0	158.0					5																	118484750		2202	4300	6502	SO:0001583	missense	1657							g.chr5:118484750G>T	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.3228G>T	5.37:g.118484750G>T	ENSP00000309690:p.Met1076Ile	False	False		Somatic	0				DMXL1_ENST00000539542.1_Missense_Mutation_p.M1076I	p.M1076I	NM_005509.4	NP_005500.4	WXS	Illumina HiSeq	Phase_I	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	18	3308	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	1076						Missense_Mutation	SNP	ENST00000311085.8	37	c.3228G>T	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.339688	0.41398	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.30182	1.54;1.54	5.65	5.65	0.86999	.	0.039008	0.85682	D	0.000000	T	0.31949	0.0813	L	0.42581	1.335	0.51012	D	0.999902	B;B	0.21821	0.061;0.021	B;B	0.19946	0.027;0.012	T	0.03278	-1.1053	10	0.41790	T	0.15	-15.3466	20.0965	0.97849	0.0:0.0:1.0:0.0	.	1076;1076	F5H269;Q9Y485	.;DMXL1_HUMAN	I	1076	ENSP00000309690:M1076I;ENSP00000439479:M1076I	ENSP00000309690:M1076I	M	+	3	0	DMXL1	118512649	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.545000	0.60698	2.824000	0.97209	0.655000	0.94253	ATG		0.413	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	0	NM_005509		5:118484750
OSBPL1A	114876	broad.mit.edu	37	18	21898597	21898597	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr18:21898597C>A	ENST00000319481.3	-	9	906	c.700G>T	c.(700-702)Gca>Tca	p.A234S		NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	234	Interaction with RAB7A.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CGTTTCAATGCTTTGTAGATG	0.279																																						ENST00000319481.3		NA																	0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(700-702)Gca>Tca		oxysterol binding protein-like 1A							40.0	41.0	41.0					18																	21898597		2202	4295	6497	SO:0001583	missense	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21898597C>A	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.700G>T	18.37:g.21898597C>A	ENSP00000320291:p.Ala234Ser	True	False		Somatic	0					p.A234S	NM_080597.3	NP_542164.2	WXS	Illumina HiSeq	Phase_I	Q9BXW6	OSBL1_HUMAN			9	906	-	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)		234					B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	ENST00000319481.3	37	c.700G>T	CCDS11884.1	.	.	.	.	.	.	.	.	.	.	C	4.909	0.169002	0.09339	.	.	ENSG00000141447	ENST00000319481	T	0.44881	0.91	5.56	1.49	0.22878	Ankyrin repeat-containing domain (2);	0.491348	0.21599	N	0.071965	T	0.22551	0.0544	N	0.25647	0.755	0.58432	D	0.999998	B;B	0.12630	0.006;0.006	B;B	0.15870	0.014;0.014	T	0.07731	-1.0757	10	0.08599	T	0.76	-5.6116	6.4427	0.21859	0.1097:0.4683:0.3476:0.0743	.	234;234	B0YJ56;Q9BXW6	.;OSBL1_HUMAN	S	234	ENSP00000320291:A234S	ENSP00000320291:A234S	A	-	1	0	OSBPL1A	20152595	0.676000	0.27567	0.851000	0.33527	0.873000	0.50193	0.364000	0.20325	0.284000	0.22305	0.650000	0.86243	GCA		0.279	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	0	NM_080597		18:21898597
CCDC171	203238	broad.mit.edu	37	9	15666164	15666164	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr9:15666164C>T	ENST00000380701.3	+	9	1247	c.919C>T	c.(919-921)Cgg>Tgg	p.R307W	CCDC171_ENST00000297641.3_Missense_Mutation_p.R307W	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	307	Glu-rich.																CCGGTAGTTACGGATTCGAGA	0.368																																						ENST00000380701.3		NA																	0					NA						c.(919-921)Cgg>Tgg		coiled-coil domain containing 171							72.0	72.0	72.0					9																	15666164		2203	4300	6503	SO:0001583	missense	203238							g.chr9:15666164C>T	AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"""myosin tail domain containing protein"""		"""chromosome 9 open reading frame 93"""	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.919C>T	9.37:g.15666164C>T	ENSP00000370077:p.Arg307Trp	False	False		Somatic	0				CCDC171_ENST00000297641.3_Missense_Mutation_p.R307W	p.R307W	NM_173550.2	NP_775821.2	WXS	Illumina HiSeq	Phase_I	Q6TFL3	CI093_HUMAN			9	1247	+			307			Glu-rich.		B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	ENST00000380701.3	37	c.919C>T	CCDS6481.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.236589	0.58886	.	.	ENSG00000164989	ENST00000297641;ENST00000380701	T;T	0.21361	2.01;2.01	5.04	1.89	0.25635	.	0.000000	0.85682	D	0.000000	T	0.29620	0.0739	L	0.34521	1.04	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.999	P;P;P	0.59288	0.855;0.799;0.855	T	0.09640	-1.0665	10	0.87932	D	0	-5.486	14.6238	0.68605	0.4658:0.5342:0.0:0.0	.	307;307;307	B7ZM22;Q6TFL3-3;Q6TFL3	.;.;CI093_HUMAN	W	307	ENSP00000297641:R307W;ENSP00000370077:R307W	ENSP00000297641:R307W	R	+	1	2	C9orf93	15656164	0.999000	0.42202	1.000000	0.80357	0.932000	0.56968	0.480000	0.22244	0.594000	0.29761	-0.230000	0.12252	CGG		0.368	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	0	NM_173550		9:15666164
NPAS3	64067	broad.mit.edu	37	14	34270091	34270091	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr14:34270091G>A	ENST00000356141.4	+	12	2578	c.2578G>A	c.(2578-2580)Ggc>Agc	p.G860S	NPAS3_ENST00000346562.2_Missense_Mutation_p.G828S|NPAS3_ENST00000551492.1_Missense_Mutation_p.G865S|NPAS3_ENST00000548645.1_Missense_Mutation_p.G830S|NPAS3_ENST00000357798.5_Missense_Mutation_p.G847S			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	860					locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		TAACAGCCCCGGCTTTGGCCT	0.652																																						ENST00000346562.2		NA																	0				breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40						c.(2482-2484)Ggc>Agc		neuronal PAS domain protein 3							43.0	29.0	34.0					14																	34270091		2202	4300	6502	SO:0001583	missense	64067				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr14:34270091G>A	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.2578G>A	14.37:g.34270091G>A	ENSP00000348460:p.Gly860Ser	True	False		Somatic	0				NPAS3_ENST00000551492.1_Missense_Mutation_p.G865S|NPAS3_ENST00000548645.1_Missense_Mutation_p.G830S|NPAS3_ENST00000357798.5_Missense_Mutation_p.G847S|NPAS3_ENST00000356141.4_Missense_Mutation_p.G860S	p.G828S	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	WXS	Illumina HiSeq	Phase_I	Q8IXF0	NPAS3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)	11	2556	+	Breast(36;0.0102)|Hepatocellular(127;0.133)		860					Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Missense_Mutation	SNP	ENST00000356141.4	37	c.2482G>A	CCDS53891.1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.751605	0.31046	.	.	ENSG00000151322	ENST00000551634;ENST00000551492;ENST00000346562;ENST00000548645;ENST00000356141;ENST00000357798	T;T;T;T;T;T	0.11169	3.07;2.9;2.96;2.96;2.93;2.8	5.02	5.02	0.67125	.	0.054609	0.64402	D	0.000001	T	0.08133	0.0203	L	0.27053	0.805	0.80722	D	1	B;B;B;B	0.17667	0.023;0.013;0.023;0.023	B;B;B;B	0.15052	0.012;0.005;0.012;0.012	T	0.19192	-1.0313	10	0.37606	T	0.19	.	9.6998	0.40180	0.1303:0.0:0.8697:0.0	.	830;860;828;847	Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3	.;NPAS3_HUMAN;.;.	S	834;865;828;830;860;847	ENSP00000448373:G834S;ENSP00000450392:G865S;ENSP00000319610:G828S;ENSP00000448916:G830S;ENSP00000348460:G860S;ENSP00000350446:G847S	ENSP00000319610:G828S	G	+	1	0	NPAS3	33339842	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	4.058000	0.57463	2.310000	0.77875	0.484000	0.47621	GGC		0.652	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1	0			14:34270091
ADAMTS16	170690	broad.mit.edu	37	5	5303758	5303758	+	Missense_Mutation	SNP	C	C	T	rs550504360		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr5:5303758C>T	ENST00000274181.7	+	20	3203	c.3065C>T	c.(3064-3066)gCg>gTg	p.A1022V		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1022	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TCGGCCAGAGCGCAGCTGCTG	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		17388	0.0		0.0	False		,,,				2504	0.001					ENST00000274181.7		NA																	0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(3064-3066)gCg>gTg		ADAM metallopeptidase with thrombospondin type 1 motif, 16							42.0	51.0	48.0					5																	5303758		2155	4269	6424	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5303758C>T	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.3065C>T	5.37:g.5303758C>T	ENSP00000274181:p.Ala1022Val	False	False		Somatic	0					p.A1022V	NM_139056.2	NP_620687.2	WXS	Illumina HiSeq	Phase_I	Q8TE57	ATS16_HUMAN			20	3203	+			1022			TSP type-1 4.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.3065C>T	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.580800	0.28180	.	.	ENSG00000145536	ENST00000274181	T	0.55234	0.53	4.79	4.79	0.61399	.	0.128592	0.52532	D	0.000076	T	0.43211	0.1237	L	0.33753	1.03	0.32102	N	0.590414	B;B	0.25719	0.132;0.101	B;B	0.23716	0.048;0.03	T	0.51671	-0.8676	10	0.36615	T	0.2	.	15.7068	0.77588	0.0:1.0:0.0:0.0	.	1022;1022	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	V	1022	ENSP00000274181:A1022V	ENSP00000274181:A1022V	A	+	2	0	ADAMTS16	5356758	0.630000	0.27155	0.040000	0.18447	0.026000	0.11368	3.024000	0.49674	2.359000	0.80004	0.650000	0.86243	GCG		0.627	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	0	NM_139056		5:5303758
ACAN	176	broad.mit.edu	37	15	89382241	89382241	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr15:89382241G>A	ENST00000561243.1	+	2	418	c.418G>A	c.(418-420)Gag>Aag	p.E140K	ACAN_ENST00000559004.1_Missense_Mutation_p.E140K|ACAN_ENST00000352105.7_Missense_Mutation_p.E140K|ACAN_ENST00000558207.1_Missense_Mutation_p.E140K|ACAN_ENST00000439576.2_Missense_Mutation_p.E140K			P16112	PGCA_HUMAN	aggrecan	140	G1-A.|Ig-like V-type.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GCATGGCATCGAGGACAGCGA	0.612																																						ENST00000439576.2		NA																	0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(418-420)Gag>Aag		aggrecan							87.0	96.0	93.0					15																	89382241		2120	4236	6356	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89382241G>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.418G>A	15.37:g.89382241G>A	ENSP00000453342:p.Glu140Lys	False	False		Somatic	0				ACAN_ENST00000352105.7_Missense_Mutation_p.E140K|ACAN_ENST00000559004.1_Missense_Mutation_p.E140K|ACAN_ENST00000561243.1_Missense_Mutation_p.E140K|ACAN_ENST00000558207.1_Missense_Mutation_p.E140K	p.E140K	NM_013227.3	NP_037359.3	WXS	Illumina HiSeq	Phase_I	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		3	792	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		140					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.418G>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.980547	0.92982	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02656	4.21;4.21	5.6	5.6	0.85130	.	0.000000	0.33005	N	0.005399	T	0.20820	0.0501	M	0.88570	2.965	0.51482	D	0.999925	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.931;0.949;0.995	T	0.00379	-1.1777	10	0.72032	D	0.01	-10.703	18.9733	0.92724	0.0:0.0:1.0:0.0	.	140;140;140	E7ENV9;E7EX88;Q6PID9	.;.;.	K	140	ENSP00000387356:E140K;ENSP00000341615:E140K	ENSP00000268134:E140K	E	+	1	0	ACAN	87183245	1.000000	0.71417	0.986000	0.45419	0.992000	0.81027	9.715000	0.98748	2.806000	0.96561	0.655000	0.94253	GAG		0.612	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	0	NM_001135		15:89382241
MEP1A	4224	broad.mit.edu	37	6	46761185	46761185	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr6:46761185C>T	ENST00000230588.4	+	1	59	c.50C>T	c.(49-51)gCc>gTc	p.A17V		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	17					digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A17V(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TTGCTTTTTGCCCACATAGCA	0.348																																						ENST00000230588.4		NA																	1	Substitution - Missense(1)	p.A17V(1)	lung(1)	NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(49-51)gCc>gTc		meprin A, alpha (PABA peptide hydrolase)							218.0	199.0	205.0					6																	46761185		2203	4300	6503	SO:0001583	missense	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46761185C>T		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.50C>T	6.37:g.46761185C>T	ENSP00000230588:p.Ala17Val	True	False		Somatic	0					p.A17V	NM_005588.2	NP_005579.2	WXS	Illumina HiSeq	Phase_I	Q16819	MEP1A_HUMAN	Lung(136;0.192)		1	59	+			17					A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	ENST00000230588.4	37	c.50C>T	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	C	3.305	-0.142020	0.06669	.	.	ENSG00000112818	ENST00000230588	T	0.24151	1.87	5.21	-0.00269	0.14028	.	0.705821	0.14141	N	0.338738	T	0.04272	0.0118	N	0.25890	0.77	0.09310	N	0.999995	B;B	0.12013	0.004;0.005	B;B	0.10450	0.005;0.002	T	0.45673	-0.9245	10	0.11794	T	0.64	-3.8338	7.5808	0.27963	0.0:0.4834:0.0:0.5166	.	17;17	B7ZL91;Q16819	.;MEP1A_HUMAN	V	17	ENSP00000230588:A17V	ENSP00000230588:A17V	A	+	2	0	MEP1A	46869144	0.004000	0.15560	0.783000	0.31826	0.135000	0.20990	-0.290000	0.08354	-0.016000	0.14127	0.655000	0.94253	GCC		0.348	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	0	NM_005588		6:46761185
SLFN13	146857	broad.mit.edu	37	17	33771812	33771812	+	Silent	SNP	G	G	T	rs372414173		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr17:33771812G>T	ENST00000285013.6	-	3	1163	c.888C>A	c.(886-888)acC>acA	p.T296T	SLFN13_ENST00000534689.1_Intron|SLFN13_ENST00000533791.1_Silent_p.T296T|SLFN13_ENST00000526861.1_Silent_p.T296T|SLFN13_ENST00000360502.2_Intron|SLFN13_ENST00000542635.1_Silent_p.T296T	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	296						intracellular (GO:0005622)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CTACGATTTTGGTGCTGTACT	0.413																																						ENST00000285013.6		NA																	0				NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31						c.(886-888)acC>acA		schlafen family member 13		G		0,4406		0,0,2203	179.0	171.0	174.0		888	0.1	0.0	17		174	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLFN13	NM_144682.5		0,1,6502	TT,TG,GG		0.0116,0.0,0.0077		296/898	33771812	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	146857					intracellular	ATP binding	g.chr17:33771812G>T	AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.888C>A	17.37:g.33771812G>T		True	False		Somatic	0				SLFN13_ENST00000542635.1_Silent_p.T296T|SLFN13_ENST00000360502.2_Intron|SLFN13_ENST00000526861.1_Silent_p.T296T|SLFN13_ENST00000533791.1_Silent_p.T296T|SLFN13_ENST00000534689.1_Intron	p.T296T	NM_144682.5	NP_653283.3	WXS	Illumina HiSeq	Phase_I	Q68D06	SLN13_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	3	1163	-			296					E1P645|Q658M1|Q6ZS51|Q96A81	Silent	SNP	ENST00000285013.6	37	c.888C>A	CCDS32620.1																																																																																				0.413	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381883.1	0	NM_144682		17:33771812
IL4I1	259307	broad.mit.edu	37	19	50399114	50399114	+	Silent	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:50399114G>A	ENST00000391826.2	-	3	352	c.210C>T	c.(208-210)gcC>gcT	p.A70A	IL4I1_ENST00000595948.1_Silent_p.A92A|IL4I1_ENST00000341114.3_Silent_p.A92A	NM_152899.1	NP_690863.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	70						extracellular region (GO:0005576)|lysosome (GO:0005764)	L-amino-acid oxidase activity (GO:0001716)			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	Flavin adenine dinucleotide(DB03147)	CCACCAGCCCGGCCACACCAG	0.627																																						ENST00000595948.1		NA																	0				endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(274-276)gcC>gcT		interleukin 4 induced 1							100.0	107.0	105.0					19																	50399114		2203	4300	6503	SO:0001819	synonymous_variant	259307					lysosome	L-amino-acid oxidase activity	g.chr19:50399114G>A	AF293462	CCDS12786.1, CCDS12787.1	19q13.3-q13.4	2014-06-26				ENSG00000104951			19094	protein-coding gene	gene with protein product		609742				12031486	Standard	NM_152899		Approved	FIG1	uc002pqt.1	Q96RQ9		ENST00000391826.2:c.210C>T	19.37:g.50399114G>A		True	False		Somatic	0				IL4I1_ENST00000341114.3_Silent_p.A92A|IL4I1_ENST00000391826.2_Silent_p.A70A	p.A92A	NM_001258018.1	NP_001244947.1	WXS	Illumina HiSeq	Phase_I	Q96RQ9	OXLA_HUMAN		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	5	896	-		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	70					Q1WMJ3|Q4GZN1|Q4GZN2|Q6P2Q3|Q8TEM5|Q96RQ8	Silent	SNP	ENST00000391826.2	37	c.276C>T	CCDS12787.1																																																																																				0.627	IL4I1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466413.1	0			19:50399114
LILRB1	10859	broad.mit.edu	37	19	55144146	55144146	+	Missense_Mutation	SNP	A	A	C	rs563262541	byFrequency	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:55144146A>C	ENST00000396331.1	+	7	1250	c.893A>C	c.(892-894)tAc>tCc	p.Y298S	LILRB1_ENST00000324602.7_Missense_Mutation_p.Y298S|LILRB1_ENST00000448689.1_Missense_Mutation_p.Y298S|LILRB1_ENST00000418536.2_Missense_Mutation_p.Y298S|LILRB1_ENST00000396327.3_Missense_Mutation_p.Y298S|LILRB1_ENST00000396315.1_Missense_Mutation_p.Y298S|LILRB1_ENST00000396321.2_Missense_Mutation_p.Y298S|LILRB1_ENST00000396317.1_Missense_Mutation_p.Y298S|LILRB1_ENST00000434867.2_Missense_Mutation_p.Y298S|LILRB1_ENST00000427581.2_Missense_Mutation_p.Y334S|LILRB1_ENST00000396332.4_Missense_Mutation_p.Y298S	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	298	Ig-like C2-type 3.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TACAGATGCTACGGTGCACAC	0.672										HNSCC(37;0.09)			a|||	2	0.000399361	0.0015	0.0	5008	,	,		16509	0.0		0.0	False		,,,				2504	0.0					ENST00000396331.1		NA																	0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(892-894)tAc>tCc		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1							47.0	49.0	49.0					19																	55144146		2203	4298	6501	SO:0001583	missense	0				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55144146A>C	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.893A>C	19.37:g.55144146A>C	ENSP00000379622:p.Tyr298Ser	False	False	HNSCC(37;0.09)	Somatic	0				LILRB1_ENST00000396327.3_Missense_Mutation_p.Y298S|LILRB1_ENST00000324602.7_Missense_Mutation_p.Y298S|LILRB1_ENST00000396332.4_Missense_Mutation_p.Y298S|LILRB1_ENST00000434867.2_Missense_Mutation_p.Y298S|LILRB1_ENST00000396321.2_Missense_Mutation_p.Y298S|LILRB1_ENST00000448689.1_Missense_Mutation_p.Y298S|LILRB1_ENST00000396317.1_Missense_Mutation_p.Y298S|LILRB1_ENST00000427581.2_Missense_Mutation_p.Y334S|LILRB1_ENST00000396315.1_Missense_Mutation_p.Y298S|LILRB1_ENST00000418536.2_Missense_Mutation_p.Y298S	p.Y298S	NM_006669.3	NP_006660.3	WXS	Illumina HiSeq	Phase_I	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	7	1250	+			298			Ig-like C2-type 3.		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.893A>C	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	A	5.091	0.202429	0.09652	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76;2.76;2.76;2.76;2.76;2.76;2.76	2.03	0.938	0.19500	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.252811	0.20873	N	0.084132	T	0.16557	0.0398	M	0.74467	2.265	0.09310	N	0.999994	B;B;P;B;B	0.37233	0.34;0.004;0.588;0.01;0.005	B;B;P;B;B	0.45506	0.261;0.031;0.483;0.031;0.052	T	0.08848	-1.0702	10	0.48119	T	0.1	.	5.3334	0.15945	0.7111:0.2889:0.0:0.0	.	298;298;298;298;298	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	S	298;298;298;298;298;298;298;298;334;298;298	ENSP00000379614:Y298S;ENSP00000391514:Y298S;ENSP00000409968:Y298S;ENSP00000379622:Y298S;ENSP00000379618:Y298S;ENSP00000315997:Y298S;ENSP00000405243:Y298S;ENSP00000379623:Y298S;ENSP00000395004:Y334S;ENSP00000379610:Y298S;ENSP00000379608:Y298S	ENSP00000315997:Y298S	Y	+	2	0	LILRB1	59835958	0.000000	0.05858	0.217000	0.23759	0.009000	0.06853	-0.248000	0.08854	0.015000	0.14971	-1.341000	0.01249	TAC		0.672	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4	0			19:55144146
TP53	7157	broad.mit.edu	37	17	7577505	7577505	+	Missense_Mutation	SNP	T	T	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr17:7577505T>A	ENST00000269305.4	-	7	965	c.776A>T	c.(775-777)gAc>gTc	p.D259V	TP53_ENST00000445888.2_Missense_Mutation_p.D259V|TP53_ENST00000420246.2_Missense_Mutation_p.D259V|TP53_ENST00000359597.4_Missense_Mutation_p.D259V|TP53_ENST00000455263.2_Missense_Mutation_p.D259V|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.D259V	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	259	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		D -> A (in a sporadic cancer; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in sporadic cancers; somatic mutation).|D -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> S (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.D259V(18)|p.0?(8)|p.D259G(4)|p.D259F(3)|p.D259fs*5(2)|p.?(1)|p.E258fs*85(1)|p.E258fs*71(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.D259S(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGACCTGGAGTCTTCCAGTGT	0.587		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		41	Substitution - Missense(26)|Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - Frameshift(2)|Deletion - In frame(1)|Unknown(1)	p.D259V(18)|p.0?(8)|p.D259G(4)|p.D259F(3)|p.D259fs*5(2)|p.?(1)|p.E258fs*85(1)|p.E258fs*71(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.D259S(1)	lung(8)|upper_aerodigestive_tract(5)|bone(4)|large_intestine(3)|stomach(3)|central_nervous_system(3)|ovary(3)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|oesophagus(2)|liver(2)|skin(2)|pancreas(1)|breast(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(775-777)gAc>gTc	Other conserved DNA damage response genes	tumor protein p53							134.0	95.0	108.0					17																	7577505		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577505T>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.776A>T	17.37:g.7577505T>A	ENSP00000269305:p.Asp259Val	False	False	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	Somatic	0				TP53_ENST00000413465.2_Missense_Mutation_p.D259V|TP53_ENST00000445888.2_Missense_Mutation_p.D259V|TP53_ENST00000269305.4_Missense_Mutation_p.D259V|TP53_ENST00000359597.4_Missense_Mutation_p.D259V|TP53_ENST00000455263.2_Missense_Mutation_p.D259V	p.D259V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina HiSeq	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	908	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	259		D -> A (in a sporadic cancer; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in sporadic cancers; somatic mutation).|D -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> S (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.776A>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	14.78	2.636906	0.47049	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99793	-6.77;-6.77;-6.77;-6.77;-6.77;-6.77;-6.77	4.52	4.52	0.55395	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.164918	0.53938	D	0.000053	D	0.99557	0.9841	M	0.82630	2.6	0.80722	D	1	P;P;P;P;P	0.52842	0.482;0.483;0.537;0.815;0.956	P;B;P;P;P	0.57244	0.692;0.401;0.63;0.795;0.816	D	0.98404	1.0569	10	0.62326	D	0.03	-22.926	7.6416	0.28296	0.1888:0.0:0.0:0.8112	.	259;259;259;259;259	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	V	259;259;259;259;259;259;248;127	ENSP00000410739:D259V;ENSP00000352610:D259V;ENSP00000269305:D259V;ENSP00000398846:D259V;ENSP00000391127:D259V;ENSP00000391478:D259V;ENSP00000425104:D127V	ENSP00000269305:D259V	D	-	2	0	TP53	7518230	1.000000	0.71417	1.000000	0.80357	0.329000	0.28539	2.616000	0.46376	2.036000	0.60181	0.379000	0.24179	GAC		0.587	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	NM_000546		17:7577505
TMEM200A	114801	broad.mit.edu	37	6	130761706	130761706	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr6:130761706G>T	ENST00000296978.3	+	3	1010	c.139G>T	c.(139-141)Gat>Tat	p.D47Y	TMEM200A_ENST00000545622.1_Missense_Mutation_p.D47Y|TMEM200A_ENST00000392429.1_Missense_Mutation_p.D47Y	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	47						integral component of membrane (GO:0016021)				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GCCCCGGGCAGATGTTGTGGT	0.507																																						ENST00000392429.1		NA																	0				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(139-141)Gat>Tat		transmembrane protein 200A							123.0	126.0	125.0					6																	130761706		2203	4300	6503	SO:0001583	missense	114801					integral to membrane		g.chr6:130761706G>T	AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"""KIAA1913"""	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.139G>T	6.37:g.130761706G>T	ENSP00000296978:p.Asp47Tyr	False	False		Somatic	0				TMEM200A_ENST00000296978.3_Missense_Mutation_p.D47Y|TMEM200A_ENST00000545622.1_Missense_Mutation_p.D47Y	p.D47Y	NM_052913.2	NP_443145.1	WXS	Illumina HiSeq	Phase_I	Q86VY9	T200A_HUMAN		GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)	2	2517	+			47					Q96PX5	Missense_Mutation	SNP	ENST00000296978.3	37	c.139G>T	CCDS5140.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.935617	0.73442	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.75620	0.3874	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77446	-0.2585	9	0.87932	D	0	.	19.6088	0.95594	0.0:0.0:1.0:0.0	.	47	Q86VY9	T200A_HUMAN	Y	47	.	ENSP00000296978:D47Y	D	+	1	0	TMEM200A	130803399	1.000000	0.71417	0.657000	0.29651	0.908000	0.53690	9.668000	0.98619	2.623000	0.88846	0.650000	0.86243	GAT		0.507	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	0	NM_052913		6:130761706
GPHN	10243	broad.mit.edu	37	14	67626189	67626189	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr14:67626189G>T	ENST00000315266.5	+	18	2916	c.1795G>T	c.(1795-1797)Gtt>Ttt	p.V599F	GPHN_ENST00000478722.1_Missense_Mutation_p.V632F|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000305960.9_Missense_Mutation_p.V568F|GPHN_ENST00000543237.1_Missense_Mutation_p.V645F	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin	599	MPT adenylyltransferase.				establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740)			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		TTTTGGCAGGGTTTTTATGAA	0.333			T	MLL	AL																																	ENST00000478722.1		NA		Dom	yes		14	14q24	10243	T	gephyrin (GPH)			L	MLL		AL		0				large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12						c.(1894-1896)Gtt>Ttt		gephyrin							163.0	164.0	163.0					14																	67626189		2203	4300	6503	SO:0001583	missense	10243				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity	g.chr14:67626189G>T	AB037806	CCDS9777.1, CCDS32103.1	14q23.3	2008-04-22			ENSG00000171723	ENSG00000171723			15465	protein-coding gene	gene with protein product		603930				1319186, 10325225, 18403029	Standard	XM_005267250		Approved	KIAA1385	uc001xix.3	Q9NQX3	OTTHUMG00000029785	ENST00000315266.5:c.1795G>T	14.37:g.67626189G>T	ENSP00000312771:p.Val599Phe	True	False		Somatic	0				GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000305960.9_Missense_Mutation_p.V568F|GPHN_ENST00000315266.5_Missense_Mutation_p.V599F|GPHN_ENST00000543237.1_Missense_Mutation_p.V645F	p.V632F	NM_020806.4	NP_065857.1	WXS	Illumina HiSeq	Phase_I	Q9NQX3	GEPH_HUMAN		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)	19	3015	+		all_cancers(7;0.0476)|all_hematologic(31;0.0116)	599			MPT adenylyltransferase.		Q9H4E9|Q9P2G2	Missense_Mutation	SNP	ENST00000315266.5	37	c.1894G>T	CCDS32103.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.845302	0.91197	.	.	ENSG00000171723	ENST00000315266;ENST00000478722;ENST00000543237;ENST00000305960;ENST00000555503	T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27	5.66	5.66	0.87406	Molybdenum cofactor synthesis (1);Molybdenum cofactor biosynthesis, conserved site (1);Molybdopterin binding (4);	0.000000	0.85682	D	0.000000	D	0.93012	0.7776	H	0.98005	4.125	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.996;0.999;0.996	D	0.95232	0.8343	10	0.87932	D	0	-9.3676	18.5075	0.90902	0.0:0.0:1.0:0.0	.	568;645;599;632	F8W7D6;F5H039;Q9NQX3;Q9NQX3-2	.;.;GEPH_HUMAN;.	F	599;632;645;568;124	ENSP00000312771:V599F;ENSP00000417901:V632F;ENSP00000438404:V645F;ENSP00000303019:V568F;ENSP00000452009:V124F	ENSP00000303019:V568F	V	+	1	0	GPHN	66695942	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.326000	0.96389	2.669000	0.90835	0.591000	0.81541	GTT		0.333	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000074299.2	0	NM_020806		14:67626189
KSR2	283455	broad.mit.edu	37	12	117977587	117977587	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr12:117977587G>A	ENST00000339824.5	-	10	2351	c.1624C>T	c.(1624-1626)Ccg>Tcg	p.P542S	KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000425217.1_Missense_Mutation_p.P513S|KSR2_ENST00000302438.5_Missense_Mutation_p.P239S			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	542	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGAGAAGGCGGCGTGGCACTA	0.647																																						ENST00000425217.1		NA																	0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1537-1539)Ccg>Tcg		kinase suppressor of ras 2							69.0	80.0	77.0					12																	117977587		2122	4211	6333	SO:0001583	missense	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:117977587G>A	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1624C>T	12.37:g.117977587G>A	ENSP00000339952:p.Pro542Ser	False	False		Somatic	0				KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000339824.5_Missense_Mutation_p.P542S|KSR2_ENST00000302438.5_Missense_Mutation_p.P239S	p.P513S	NM_173598.4	NP_775869.3	WXS	Illumina HiSeq	Phase_I	Q6VAB6	KSR2_HUMAN			10	1591	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		542			Pro-rich.		A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37	c.1537C>T		.	.	.	.	.	.	.	.	.	.	G	22.2	4.260144	0.80246	.	.	ENSG00000171435	ENST00000425217;ENST00000339824;ENST00000302438;ENST00000542378	T;T;D	0.86297	-1.27;-1.26;-2.1	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.84611	0.5510	L	0.29908	0.895	0.80722	D	1	D	0.59357	0.985	P	0.53102	0.718	T	0.80214	-0.1475	10	0.02654	T	1	.	18.5691	0.91128	0.0:0.0:1.0:0.0	.	542	Q6VAB6	KSR2_HUMAN	S	513;542;239;214	ENSP00000389715:P513S;ENSP00000339952:P542S;ENSP00000305466:P239S	ENSP00000305466:P239S	P	-	1	0	KSR2	116461970	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	9.569000	0.98170	2.601000	0.87937	0.655000	0.94253	CCG		0.647	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	0	NM_173598		12:117977587
BRWD3	254065	broad.mit.edu	37	X	79985487	79985487	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:79985487G>A	ENST00000373275.4	-	13	1376	c.1160C>T	c.(1159-1161)aCg>aTg	p.T387M		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	387					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						AATTCTTGCCGTTCCATCTCG	0.299																																						ENST00000373275.4		NA																	0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(1159-1161)aCg>aTg		bromodomain and WD repeat domain containing 3							157.0	132.0	140.0					X																	79985487		2203	4299	6502	SO:0001583	missense	254065							g.chrX:79985487G>A		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.1160C>T	X.37:g.79985487G>A	ENSP00000362372:p.Thr387Met	False	False		Somatic	0					p.T387M	NM_153252.4	NP_694984	WXS	Illumina HiSeq	Phase_I	Q6RI45	BRWD3_HUMAN			13	1376	-			387					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.1160C>T	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.237206	0.79800	.	.	ENSG00000165288	ENST00000373275	T	0.69561	-0.41	4.37	4.37	0.52481	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.82655	0.5084	M	0.83953	2.67	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.85220	0.1026	9	.	.	.	-2.364	16.3826	0.83473	0.0:0.0:1.0:0.0	.	387	Q6RI45	BRWD3_HUMAN	M	387	ENSP00000362372:T387M	.	T	-	2	0	BRWD3	79872143	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.207000	0.77899	2.035000	0.60131	0.513000	0.50165	ACG		0.299	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	0	NM_153252		X:79985487
UBR2	23304	broad.mit.edu	37	6	42571440	42571440	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr6:42571440G>A	ENST00000372899.1	+	5	904	c.646G>A	c.(646-648)Gca>Aca	p.A216T	UBR2_ENST00000372903.2_Missense_Mutation_p.A216T|UBR2_ENST00000372901.1_Missense_Mutation_p.A216T	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	216					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A216T(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TGAATTGCCAGCAGATTTAGA	0.313																																						ENST00000372899.1		NA																	1	Substitution - Missense(1)	p.A216T(1)	pancreas(1)	breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64						c.(646-648)Gca>Aca		ubiquitin protein ligase E3 component n-recognin 2							116.0	123.0	121.0					6																	42571440		2203	4297	6500	SO:0001583	missense	23304				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42571440G>A	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.646G>A	6.37:g.42571440G>A	ENSP00000361990:p.Ala216Thr	False	False		Somatic	0				UBR2_ENST00000372903.2_Missense_Mutation_p.A216T|UBR2_ENST00000372901.1_Missense_Mutation_p.A216T	p.A216T	NM_015255.2	NP_056070.1	WXS	Illumina HiSeq	Phase_I	Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		5	904	+	Colorectal(47;0.196)		216					O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	c.646G>A	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.928522	0.34002	.	.	ENSG00000024048	ENST00000372903;ENST00000372899;ENST00000372901	T;T;T	0.73469	-0.75;0.21;0.21	5.58	1.67	0.24075	.	0.829390	0.10744	N	0.639102	T	0.30166	0.0756	N	0.08118	0	0.80722	D	1	B;B	0.15473	0.004;0.013	B;B	0.25506	0.007;0.061	T	0.25187	-1.0139	10	0.12430	T	0.62	-7.2156	6.1466	0.20289	0.0821:0.3568:0.4611:0.1	.	216;216	Q8IWV8;Q8IWV8-2	UBR2_HUMAN;.	T	216	ENSP00000361994:A216T;ENSP00000361990:A216T;ENSP00000361992:A216T	ENSP00000361990:A216T	A	+	1	0	UBR2	42679418	0.996000	0.38824	0.998000	0.56505	0.988000	0.76386	0.427000	0.21379	0.728000	0.32382	0.650000	0.86243	GCA		0.313	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	0	NM_015255		6:42571440
ASB15	142685	broad.mit.edu	37	7	123269120	123269120	+	Missense_Mutation	SNP	G	G	A	rs370081452	byFrequency	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr7:123269120G>A	ENST00000451558.1	+	12	1593	c.1072G>A	c.(1072-1074)Gtt>Att	p.V358I	ASB15_ENST00000434204.1_Missense_Mutation_p.V358I|ASB15_ENST00000275699.3_Missense_Mutation_p.V358I|ASB15_ENST00000540573.1_Missense_Mutation_p.V358I|ASB15_ENST00000451215.1_Missense_Mutation_p.V358I			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	358					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.V358I(1)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GTATTTTGGCGTTTCTAATAA	0.458													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		21776	0.0		0.0	False		,,,				2504	0.0					ENST00000451558.1		NA																	1	Substitution - Missense(1)	p.V358I(1)	endometrium(1)	breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						c.(1072-1074)Gtt>Att		ankyrin repeat and SOCS box containing 15		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	153.0	138.0	143.0		1072	5.3	0.9	7		143	0,8600		0,0,4300	no	missense	ASB15	NM_080928.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	358/589	123269120	1,13005	2203	4300	6503	SO:0001583	missense	142685				intracellular signal transduction			g.chr7:123269120G>A	AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"""Ankyrin repeat domain containing"""	19767	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 15"""			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.1072G>A	7.37:g.123269120G>A	ENSP00000397655:p.Val358Ile	True	False		Somatic	0				ASB15_ENST00000275699.3_Missense_Mutation_p.V358I|ASB15_ENST00000434204.1_Missense_Mutation_p.V358I|ASB15_ENST00000540573.1_Missense_Mutation_p.V358I|ASB15_ENST00000451215.1_Missense_Mutation_p.V358I	p.V358I			WXS	Illumina HiSeq	Phase_I	Q8WXK1	ASB15_HUMAN			12	1593	+			358					Q3ZCP3|Q3ZCP5|Q68D37	Missense_Mutation	SNP	ENST00000451558.1	37	c.1072G>A	CCDS34742.1	.	.	.	.	.	.	.	.	.	.	g	24.4	4.523476	0.85600	2.27E-4	0.0	ENSG00000146809	ENST00000451558;ENST00000434204;ENST00000451215;ENST00000540573;ENST00000542545;ENST00000275699	T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1	6.17	5.3	0.74995	Ankyrin repeat-containing domain (4);	0.082444	0.50627	N	0.000109	T	0.73001	0.3531	L	0.45137	1.4	0.58432	D	0.999998	D	0.89917	1.0	D	0.73380	0.98	T	0.75938	-0.3141	10	0.72032	D	0.01	.	15.8585	0.79005	0.0644:0.0:0.9356:0.0	.	358	Q8WXK1	ASB15_HUMAN	I	358;358;358;358;147;358	ENSP00000397655:V358I;ENSP00000390963:V358I;ENSP00000416433:V358I;ENSP00000438643:V358I;ENSP00000275699:V358I	ENSP00000275699:V358I	V	+	1	0	ASB15	123056356	1.000000	0.71417	0.950000	0.38849	0.882000	0.50991	7.633000	0.83260	1.644000	0.50603	-0.119000	0.15052	GTT		0.458	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1	0			7:123269120
