#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PRDM9	56979	broad.mit.edu	37	5	23527407	23527407	+	Missense_Mutation	SNP	G	G	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr5:23527407G>C	ENST00000296682.3	+	11	2392	c.2210G>C	c.(2209-2211)aGa>aCa	p.R737T		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	737					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CACCTCCTCAGACACCAGAGG	0.582										HNSCC(3;0.000094)																												ENST00000296682.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(2209-2211)aGa>aCa		PR domain containing 9							21.0	25.0	24.0					5																	23527407		2042	4140	6182	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23527407G>C	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2210G>C	5.37:g.23527407G>C	ENSP00000296682:p.Arg737Thr	HNSCC(3;0.000094)					p.R737T	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			11	2392	+			737					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.2210G>C	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.958983	0.00049	.	.	ENSG00000164256	ENST00000296682	T	0.26223	1.75	3.0	-5.99	0.02213	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15652	0.0377	L	0.46741	1.465	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.39781	-0.9597	9	0.10111	T	0.7	.	7.287	0.26344	0.3429:0.5055:0.1516:0.0	.	737	Q9NQV7	PRDM9_HUMAN	T	737	ENSP00000296682:R737T	ENSP00000296682:R737T	R	+	2	0	PRDM9	23563164	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-20.000000	0.00000	-1.574000	0.01657	-0.494000	0.04653	AGA		0.582	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		4	89	0	0	0	0.047766	0	4	89				
NCAPH	23397	broad.mit.edu	37	2	97024792	97024792	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr2:97024792G>A	ENST00000240423.4	+	10	1261	c.1218G>A	c.(1216-1218)atG>atA	p.M406I	NCAPH_ENST00000427946.1_Missense_Mutation_p.M270I|NCAPH_ENST00000455200.1_Missense_Mutation_p.M395I	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	406					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				GGGAAGAAATGATTTCCCTTG	0.403																																						ENST00000455200.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1183-1185)atG>atA		non-SMC condensin I complex, subunit H							115.0	102.0	106.0					2																	97024792		2203	4300	6503	SO:0001583	missense	23397				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus		g.chr2:97024792G>A	BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152			1112	protein-coding gene	gene with protein product		602332	"""barren (Drosophila) homolog"", ""barren homolog (Drosophila)"", ""barren homolog 1 (Drosophila)"""	BRRN1		9417923	Standard	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000240423.4:c.1218G>A	2.37:g.97024792G>A	ENSP00000240423:p.Met406Ile					NCAPH_ENST00000240423.4_Missense_Mutation_p.M406I|NCAPH_ENST00000427946.1_Missense_Mutation_p.M270I	p.M395I			Q15003	CND2_HUMAN			10	1480	+		Ovarian(717;0.0221)	406					B4E189|Q8TB87	Missense_Mutation	SNP	ENST00000240423.4	37	c.1185G>A	CCDS2021.1	.	.	.	.	.	.	.	.	.	.	G	0.033	-1.323083	0.01320	.	.	ENSG00000121152	ENST00000240423;ENST00000427946;ENST00000435975;ENST00000455200	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.82	0.55	0.17219	.	0.646915	0.16848	N	0.197056	T	0.17109	0.0411	N	0.12182	0.205	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.001;0.002;0.001	T	0.13255	-1.0516	10	0.20519	T	0.43	0.0084	0.6204	0.00777	0.2444:0.1371:0.3481:0.2704	.	382;395;395;406	B4DRG7;E9PHA2;C9J470;Q15003	.;.;.;CND2_HUMAN	I	406;270;395;395	ENSP00000240423:M406I;ENSP00000400774:M270I;ENSP00000405237:M395I;ENSP00000407308:M395I	ENSP00000240423:M406I	M	+	3	0	NCAPH	96388519	0.001000	0.12720	0.026000	0.17262	0.006000	0.05464	-0.492000	0.06467	-0.182000	0.10602	-1.251000	0.01509	ATG		0.403	NCAPH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252842.2	NM_015341		25	45	0	0	0	0.108266	0	25	45				
LPIN2	9663	broad.mit.edu	37	18	2931293	2931293	+	Missense_Mutation	SNP	G	G	A	rs370896659		TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr18:2931293G>A	ENST00000261596.4	-	9	1655	c.1417C>T	c.(1417-1419)Ctt>Ttt	p.L473F		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	473					cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		CCCCCGCAAAGGGAGAGGGTA	0.537																																						ENST00000261596.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29						c.(1417-1419)Ctt>Ttt		lipin 2							63.0	57.0	59.0					18																	2931293		2203	4300	6503	SO:0001583	missense	9663				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity	g.chr18:2931293G>A	D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.1417C>T	18.37:g.2931293G>A	ENSP00000261596:p.Leu473Phe						p.L473F	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN		READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)	9	1655	-			473					A7MD25|D3DUH3	Missense_Mutation	SNP	ENST00000261596.4	37	c.1417C>T	CCDS11829.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489726	0.84962	.	.	ENSG00000101577	ENST00000261596	D	0.89746	-2.56	5.96	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.95194	0.8442	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95556	0.8625	10	0.87932	D	0	-21.0861	14.5953	0.68400	0.0694:0.0:0.9306:0.0	.	473	Q92539	LPIN2_HUMAN	F	473	ENSP00000261596:L473F	ENSP00000261596:L473F	L	-	1	0	LPIN2	2921293	1.000000	0.71417	0.736000	0.30914	0.959000	0.62525	5.181000	0.65054	2.815000	0.96918	0.650000	0.86243	CTT		0.537	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254363.2	NM_014646		4	51	0	0	0	0.021553	0	4	51				
SIX5	147912	broad.mit.edu	37	19	46268862	46268862	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr19:46268862A>G	ENST00000317578.6	-	3	2498	c.2117T>C	c.(2116-2118)cTg>cCg	p.L706P	SIX5_ENST00000560168.1_3'UTR|AC074212.5_ENST00000559756.1_RNA|AC074212.6_ENST00000590076.1_RNA|AC074212.5_ENST00000592217.2_RNA	NM_175875.4	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5	706					lens development in camera-type eye (GO:0002088)|negative regulation of cell proliferation (GO:0008285)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		GGTGGCCCCCAGGAGCAGCCC	0.677																																						ENST00000317578.6																			0				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(2116-2118)cTg>cCg		SIX homeobox 5							46.0	53.0	50.0					19																	46268862		2203	4300	6503	SO:0001583	missense	147912					cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:46268862A>G	L08835	CCDS12673.1	19q13.32	2011-06-20	2007-07-13			ENSG00000177045		"""Homeoboxes / SINE class"""	10891	protein-coding gene	gene with protein product		600963	"""sine oculis homeobox (Drosophila) homolog 5"", ""sine oculis homeobox homolog 5 (Drosophila)"""	DMAHP		8595416	Standard	NM_175875		Approved		uc002pdb.3	Q8N196		ENST00000317578.6:c.2117T>C	19.37:g.46268862A>G	ENSP00000316842:p.Leu706Pro					AC074212.5_ENST00000559756.1_RNA|SIX5_ENST00000560168.1_3'UTR	p.L706P	NM_175875.4	NP_787071.2	Q8N196	SIX5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)	3	2498	-		Ovarian(192;0.0308)|all_neural(266;0.112)	706						Missense_Mutation	SNP	ENST00000317578.6	37	c.2117T>C	CCDS12673.1	.	.	.	.	.	.	.	.	.	.	a	19.24	3.789237	0.70337	.	.	ENSG00000177045	ENST00000317578	D	0.92858	-3.12	4.45	4.45	0.53987	.	1.571050	0.03829	N	0.268793	D	0.92034	0.7476	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.84184	0.0441	10	0.87932	D	0	-9.23	10.0307	0.42099	1.0:0.0:0.0:0.0	.	706	Q8N196	SIX5_HUMAN	P	706	ENSP00000316842:L706P	ENSP00000316842:L706P	L	-	2	0	SIX5	50960702	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	6.923000	0.75817	1.878000	0.54408	0.459000	0.35465	CTG		0.677	SIX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417341.3	NM_175875		30	82	0	0	0	0.144211	0	30	82				
TCERG1	10915	broad.mit.edu	37	5	145836770	145836770	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr5:145836770A>G	ENST00000296702.5	+	3	348	c.310A>G	c.(310-312)Atg>Gtg	p.M104V	TCERG1_ENST00000394421.2_Missense_Mutation_p.M104V	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	104	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCTCCTCCCATGAGTTCCAT	0.443																																						ENST00000296702.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(310-312)Atg>Gtg		transcription elongation regulator 1							156.0	147.0	150.0					5																	145836770		2203	4300	6503	SO:0001583	missense	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145836770A>G	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.310A>G	5.37:g.145836770A>G	ENSP00000296702:p.Met104Val					TCERG1_ENST00000394421.2_Missense_Mutation_p.M104V	p.M104V	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	348	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	104			Pro-rich.		Q2NKN2|Q59EA1	Missense_Mutation	SNP	ENST00000296702.5	37	c.310A>G	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	A	11.55	1.672100	0.29693	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.27256	1.7;1.68	5.28	4.09	0.47781	.	0.118782	0.85682	D	0.000000	T	0.17152	0.0412	L	0.27053	0.805	0.33911	D	0.639652	B;B;B	0.13145	0.007;0.002;0.001	B;B;B	0.06405	0.001;0.002;0.001	T	0.17107	-1.0380	10	0.18276	T	0.48	-9.5085	12.2176	0.54414	0.8574:0.1426:0.0:0.0	.	104;104;104	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	V	104	ENSP00000296702:M104V;ENSP00000377943:M104V	ENSP00000296702:M104V	M	+	1	0	TCERG1	145816963	1.000000	0.71417	0.996000	0.52242	0.859000	0.49053	5.882000	0.69714	0.807000	0.34208	0.402000	0.26972	ATG		0.443	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		37	134	0	0	0	0.074837	0	37	134				
TBX5	6910	broad.mit.edu	37	12	114836387	114836387	+	Silent	SNP	T	T	G			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr12:114836387T>G	ENST00000310346.4	-	5	1167	c.501A>C	c.(499-501)ccA>ccC	p.P167P	TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000405440.2_Silent_p.P167P|TBX5_ENST00000349716.5_Silent_p.P117P|TBX5_ENST00000526441.1_Silent_p.P167P	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	167					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CATGCCCAAATGGGTCCAGGT	0.592																																					NSCLC(152;1358 1980 4050 23898 40356)	ENST00000310346.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(499-501)ccA>ccC		T-box 5							102.0	74.0	83.0					12																	114836387		2203	4300	6503	SO:0001819	synonymous_variant	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114836387T>G	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.501A>C	12.37:g.114836387T>G						TBX5_ENST00000349716.5_Silent_p.P117P|TBX5_ENST00000405440.2_Silent_p.P167P|TBX5_ENST00000526441.1_Silent_p.P167P|TBX5_ENST00000552726.1_5'UTR	p.P167P	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	5	1167	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		167					A6ND77|O15301|Q96TB0|Q9Y4I2	Silent	SNP	ENST00000310346.4	37	c.501A>C	CCDS9173.1																																																																																				0.592	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		6	22	0	0	0	0.021553	0	6	22				
IRF2BP2	359948	broad.mit.edu	37	1	234742916	234742916	+	Silent	SNP	T	T	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr1:234742916T>A	ENST00000366609.3	-	2	1761	c.1731A>T	c.(1729-1731)ggA>ggT	p.G577G	RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000491430.1_5'Flank|IRF2BP2_ENST00000366610.3_Silent_p.G561G	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	577					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			CTTTCACATCTCCAGCAAGGA	0.433																																						ENST00000366609.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						c.(1729-1731)ggA>ggT		interferon regulatory factor 2 binding protein 2							94.0	112.0	106.0					1																	234742916		2201	4299	6500	SO:0001819	synonymous_variant	359948				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr1:234742916T>A	AY278023	CCDS1602.1, CCDS41475.1	1q42.3	2008-02-05			ENSG00000168264	ENSG00000168264			21729	protein-coding gene	gene with protein product		615332				12799427	Standard	NM_182972		Approved	IRF-2BP2	uc001hwg.3	Q7Z5L9	OTTHUMG00000037981	ENST00000366609.3:c.1731A>T	1.37:g.234742916T>A						RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000366610.3_Silent_p.G561G	p.G577G	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)		2	1761	-	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	577					B1AM35|B1AM36|Q6P083|Q7Z5L8|Q8N351|Q8WUH8	Silent	SNP	ENST00000366609.3	37	c.1731A>T	CCDS1602.1																																																																																				0.433	IRF2BP2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000092705.1	NM_182972		53	134	0	0	0	0.139131	0	53	134				
TAF15	8148	broad.mit.edu	37	17	34174079	34174079	+	Silent	SNP	G	G	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr17:34174079G>T	ENST00000592237.1	+	19	1852	c.1323G>T	c.(1321-1323)gtG>gtT	p.V441V	TAF15_ENST00000588240.1_3'UTR|TAF15_ENST00000311979.3_3'UTR			Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	128					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TTATTTGGGTGGGAGGGCTGG	0.433			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""																																	ENST00000592237.1				Dom	yes		17	17q11.1-q11.2	8148	T	"""TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"""			"""L, M"""	"""TEC, CHN1, ZNF384"""		"""extraskeletal myxoid chondrosarcomas, ALL"""	TAF15/NR4A3(33)	0				lung(1)|ovary(1)|skin(2)|stomach(1)	5						c.(1321-1323)gtG>gtT		TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa																																				SO:0001819	synonymous_variant	8148				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr17:34174079G>T	U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647		"""RNA binding motif (RRM) containing"""	11547	protein-coding gene	gene with protein product		601574	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)"""	TAF2N		8954779, 9795213	Standard	NM_003487		Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000592237.1:c.1323G>T	17.37:g.34174079G>T						TAF15_ENST00000311979.3_3'UTR|TAF15_ENST00000588240.1_3'UTR	p.V441V			Q92804	RBP56_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	19	1852	+		Ovarian(249;0.17)	0			21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich.		D3DPM5|Q15775|Q5T077	Silent	SNP	ENST00000592237.1	37	c.1323G>T																																																																																					0.433	TAF15-006	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000449142.1	NM_139215		3	14	1	0	0.115264	0.115264	0.120364	3	14				
ZNF408	79797	broad.mit.edu	37	11	46726525	46726525	+	Missense_Mutation	SNP	A	A	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr11:46726525A>T	ENST00000311764.2	+	5	1505	c.1275A>T	c.(1273-1275)aaA>aaT	p.K425N		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	425					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GAGACCTCAAAGAGCACCAGG	0.637																																					Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)	ENST00000311764.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1273-1275)aaA>aaT		zinc finger protein 408							71.0	68.0	69.0					11																	46726525		2201	4299	6500	SO:0001583	missense	79797				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding	g.chr11:46726525A>T	AF346626	CCDS7923.1	11p11.2	2008-02-05			ENSG00000175213	ENSG00000175213		"""Zinc fingers, C2H2-type"""	20041	protein-coding gene	gene with protein product						15231747	Standard	NM_024741		Approved	FLJ12827	uc010rgw.2	Q9H9D4	OTTHUMG00000166568	ENST00000311764.2:c.1275A>T	11.37:g.46726525A>T	ENSP00000309606:p.Lys425Asn						p.K425N	NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN			5	1505	+			425						Missense_Mutation	SNP	ENST00000311764.2	37	c.1275A>T	CCDS7923.1	.	.	.	.	.	.	.	.	.	.	A	13.46	2.244516	0.39697	.	.	ENSG00000175213	ENST00000311764	T	0.17854	2.25	5.57	-3.08	0.05347	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.502630	0.16384	N	0.216772	T	0.12646	0.0307	L	0.37697	1.125	0.21020	N	0.9998	P;P	0.38677	0.491;0.642	B;B	0.42798	0.398;0.398	T	0.28073	-1.0055	10	0.23891	T	0.37	-1.7377	8.2115	0.31486	0.3439:0.211:0.4451:0.0	.	417;425	B4DXY4;Q9H9D4	.;ZN408_HUMAN	N	425	ENSP00000309606:K425N	ENSP00000309606:K425N	K	+	3	2	ZNF408	46683101	0.002000	0.14202	0.058000	0.19502	0.923000	0.55619	0.025000	0.13577	-0.352000	0.08237	0.460000	0.39030	AAA		0.637	ZNF408-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390485.2	NM_024741		13	88	0	0	0	0.119110	0	13	88				
GSTA5	221357	broad.mit.edu	37	6	52699031	52699031	+	Missense_Mutation	SNP	G	G	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr6:52699031G>C	ENST00000370989.2	-	4	351	c.322C>G	c.(322-324)Ctt>Gtt	p.L108V	GSTA5_ENST00000284562.2_Missense_Mutation_p.L108V|GSTA5_ENST00000475052.1_5'UTR			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	108	GST C-terminal.				glutathione metabolic process (GO:0006749)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)	p.L108V(1)		endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	ATGAGCAGAAGAAGGATCATT	0.368																																						ENST00000370989.1																			1	Substitution - Missense(1)	p.L108V(1)	lung(1)	endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(322-324)Ctt>Gtt		glutathione S-transferase alpha 5	Glutathione(DB00143)						194.0	185.0	188.0					6																	52699031		2203	4300	6503	SO:0001583	missense	221357				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52699031G>C	BK000212	CCDS4946.1	6p12.2	2012-06-21	2008-11-26		ENSG00000182793	ENSG00000182793	2.5.1.18	"""Glutathione S-transferases / Soluble"""	19662	protein-coding gene	gene with protein product		607605	"""glutathione S-transferase A5"""			12042665	Standard	NM_153699		Approved		uc003pba.1	Q7RTV2	OTTHUMG00000014857	ENST00000370989.2:c.322C>G	6.37:g.52699031G>C	ENSP00000360028:p.Leu108Val					GSTA5_ENST00000475052.1_5'UTR|GSTA5_ENST00000284562.2_Missense_Mutation_p.L108V	p.L108V			Q7RTV2	GSTA5_HUMAN			5	480	-	Lung NSC(77;0.0912)		108			GST C-terminal.		Q5SZC2	Missense_Mutation	SNP	ENST00000370989.2	37	c.322C>G	CCDS4946.1	.	.	.	.	.	.	.	.	.	.	G	0.192	-1.052393	0.01981	.	.	ENSG00000182793	ENST00000370989;ENST00000284562	T;T	0.02177	4.41;4.41	2.58	-2.19	0.07015	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	2.145920	0.01997	N	0.045948	T	0.00580	0.0019	L	0.33668	1.02	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48570	-0.9024	10	0.15066	T	0.55	.	4.7626	0.13115	0.3257:0.2944:0.3799:0.0	.	108	Q7RTV2	GSTA5_HUMAN	V	108	ENSP00000360028:L108V;ENSP00000284562:L108V	ENSP00000284562:L108V	L	-	1	0	GSTA5	52806990	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-3.055000	0.00626	-0.383000	0.07858	0.184000	0.17185	CTT		0.368	GSTA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040917.1	NM_153699		41	176	0	0	0	0.080422	0	41	176				
ESF1	51575	broad.mit.edu	37	20	13695669	13695669	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr20:13695669T>C	ENST00000202816.1	-	14	2515	c.2408A>G	c.(2407-2409)gAa>gGa	p.E803G		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	803	Lys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						CTGAGTAAGTTCTTGTTCTTT	0.368																																						ENST00000202816.1																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						c.(2407-2409)gAa>gGa		ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)							205.0	191.0	196.0					20																	13695669		2203	4300	6503	SO:0001583	missense	51575				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm		g.chr20:13695669T>C		CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 6"""	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.2408A>G	20.37:g.13695669T>C	ENSP00000202816:p.Glu803Gly						p.E803G	NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN			14	2515	-			803			Lys-rich.		Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Missense_Mutation	SNP	ENST00000202816.1	37	c.2408A>G	CCDS13117.1	.	.	.	.	.	.	.	.	.	.	T	11.29	1.594432	0.28445	.	.	ENSG00000089048	ENST00000202816	T	0.49720	0.77	5.9	2.41	0.29592	.	0.865759	0.10168	N	0.707495	T	0.33352	0.0860	L	0.36672	1.1	0.22366	N	0.999161	B	0.02656	0.0	B	0.04013	0.001	T	0.27054	-1.0085	10	0.24483	T	0.36	-18.9705	4.6575	0.12624	0.1297:0.2733:0.0:0.5969	.	803	Q9H501	ESF1_HUMAN	G	803	ENSP00000202816:E803G	ENSP00000202816:E803G	E	-	2	0	ESF1	13643669	0.998000	0.40836	0.943000	0.38184	0.756000	0.42949	1.144000	0.31565	0.142000	0.18901	0.528000	0.53228	GAA		0.368	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	NM_016649		6	198	0	0	0	0.021553	0	6	198				
ZNF404	342908	broad.mit.edu	37	19	44377272	44377272	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr19:44377272C>T	ENST00000587539.1	-	3	1093	c.1094G>A	c.(1093-1095)tGt>tAt	p.C365Y	ZNF404_ENST00000324394.6_Missense_Mutation_p.C363Y	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	365					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				AGAGCCTCTACAAAAGGCCTT	0.383																																						ENST00000587539.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17						c.(1093-1095)tGt>tAt		zinc finger protein 404							37.0	42.0	40.0					19																	44377272		2150	4274	6424	SO:0001583	missense	342908				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44377272C>T	XM_092027	CCDS59394.1	19q13.31	2013-01-08				ENSG00000176222		"""Zinc fingers, C2H2-type"", ""-"""	19417	protein-coding gene	gene with protein product							Standard	NM_001033719		Approved		uc002oxs.5	Q494X3		ENST00000587539.1:c.1094G>A	19.37:g.44377272C>T	ENSP00000466051:p.Cys365Tyr					ZNF404_ENST00000324394.6_Missense_Mutation_p.C363Y	p.C365Y	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN			3	1093	-		Prostate(69;0.0352)	365					A4FU30|K7ELF2	Missense_Mutation	SNP	ENST00000587539.1	37	c.1094G>A	CCDS59394.1	.	.	.	.	.	.	.	.	.	.	C	7.232	0.599438	0.13939	.	.	ENSG00000176222	ENST00000324394	T	0.39997	1.05	2.27	1.11	0.20524	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20536	0.0494	N	0.11560	0.145	0.09310	N	1	B	0.23490	0.086	B	0.14023	0.01	T	0.15983	-1.0418	9	0.44086	T	0.13	.	5.1751	0.15131	0.2111:0.3888:0.4001:0.0	.	365	Q494X3	ZN404_HUMAN	Y	363	ENSP00000319479:C363Y	ENSP00000319479:C363Y	C	-	2	0	ZNF404	49069112	0.000000	0.05858	0.517000	0.27799	0.599000	0.36880	-2.965000	0.00670	0.225000	0.20959	0.404000	0.27445	TGT		0.383	ZNF404-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460019.1	NM_001033719		14	35	0	0	0	0.119110	0	14	35				
WAPAL	23063	broad.mit.edu	37	10	88230780	88230780	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr10:88230780A>G	ENST00000298767.5	-	8	2583	c.2111T>C	c.(2110-2112)tTt>tCt	p.F704S	WAPAL_ENST00000263070.7_5'Flank	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	704	WAPL. {ECO:0000255|PROSITE- ProRule:PRU00603}.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						CAAGGTTTTAAAGACCATTGC	0.393																																						ENST00000298767.5																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						c.(2110-2112)tTt>tCt		wings apart-like homolog (Drosophila)							92.0	83.0	86.0					10																	88230780		2203	4300	6503	SO:0001583	missense	23063				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding	g.chr10:88230780A>G	AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"""friend of EBNA2"""	610754	"""KIAA0261"""	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.2111T>C	10.37:g.88230780A>G	ENSP00000298767:p.Phe704Ser						p.F704S	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN			8	2583	-			704			WAPL.		A7E2B5|Q5VSK5|Q8IX10|Q92549	Missense_Mutation	SNP	ENST00000298767.5	37	c.2111T>C	CCDS7375.1	.	.	.	.	.	.	.	.	.	.	A	28.9	4.958565	0.92726	.	.	ENSG00000062650	ENST00000342368;ENST00000298767;ENST00000372076	T	0.49432	0.78	5.66	5.66	0.87406	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71048	0.3294	M	0.80746	2.51	0.80722	D	1	D;D;D;D	0.89917	0.982;1.0;0.982;1.0	D;D;D;D	0.87578	0.966;0.998;0.966;0.997	T	0.75525	-0.3287	10	0.87932	D	0	.	16.168	0.81785	1.0:0.0:0.0:0.0	.	698;742;704;741	B2RTX8;E9PH12;Q7Z5K2;Q7Z5K2-2	.;.;WAPL_HUMAN;.	S	789;704;789	ENSP00000298767:F704S	ENSP00000298767:F704S	F	-	2	0	WAPAL	88220760	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.287000	0.95975	2.279000	0.76181	0.528000	0.53228	TTT		0.393	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2	NM_015045		11	49	0	0	0	0.093190	0	11	49				
CALCA	796	broad.mit.edu	37	11	14991621	14991621	+	Splice_Site	SNP	C	C	T	rs556800566		TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr11:14991621C>T	ENST00000486207.1	-	2	95	c.87G>A	c.(85-87)agG>agA	p.R29R	CALCA_ENST00000361010.3_Splice_Site_p.R29R|CALCA_ENST00000359642.3_Splice_Site_p.R29R|CALCB_ENST00000523376.1_Intron|CALCA_ENST00000331587.4_Splice_Site_p.R29R|CALCA_ENST00000396372.2_Splice_Site_p.R29R			P06881	CALCA_HUMAN	calcitonin-related polypeptide alpha	29					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|cytosolic calcium ion homeostasis (GO:0051480)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|G-protein coupled receptor internalization (GO:0002031)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of blood pressure (GO:0045776)|negative regulation of bone resorption (GO:0045779)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of osteoclast differentiation (GO:0045671)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of vasodilation (GO:0045909)|protein phosphorylation (GO:0006468)|receptor internalization (GO:0031623)|regulation of blood pressure (GO:0008217)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	protein complex binding (GO:0032403)|receptor binding (GO:0005102)			central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8						CCAGGGCAGACCTGTGGAGGG	0.632																																						ENST00000361010.3																			0				central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8						c.e3-1		calcitonin-related polypeptide alpha	Phentolamine(DB00692)						33.0	34.0	34.0					11																	14991621		2200	4294	6494	SO:0001630	splice_region_variant	796				activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation	cytosol|extracellular space	hormone activity	g.chr11:14991621C>T	X00356, M64486	CCDS7819.1, CCDS31432.1	11p15.2	2014-09-17	2008-02-20		ENSG00000110680	ENSG00000110680		"""Endogenous ligands"""	1437	protein-coding gene	gene with protein product	"""calcitonin"""	114130	"""calcitonin 1"""	CALC1		6546550	Standard	NM_001033953		Approved		uc001mlw.1	P01258	OTTHUMG00000159731	ENST00000486207.1:c.87-1G>A	11.37:g.14991621C>T						CALCA_ENST00000396372.2_Splice_Site_p.R29_splice|CALCA_ENST00000486207.1_Splice_Site_p.R29_splice|CALCA_ENST00000359642.3_Splice_Site_p.R29_splice|CALCA_ENST00000331587.4_Splice_Site_p.R29_splice|CALCB_ENST00000523376.1_Intron	p.R29_splice	NM_001033953.2	NP_001029125.1	P06881	CALCA_HUMAN			3	161	-			29					Q93048|Q9UCP0	Splice_Site	SNP	ENST00000486207.1	37	c.86_splice	CCDS31432.1																																																																																				0.632	CALCA-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357068.1	NM_001741	Silent	5	35	0	0	0	0.014758	0	5	35				
KRT34	3885	broad.mit.edu	37	17	39535273	39535273	+	Silent	SNP	G	G	A	rs141543111	byFrequency	TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr17:39535273G>A	ENST00000394001.1	-	6	1188	c.1158C>T	c.(1156-1158)gaC>gaT	p.D386D		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	386	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				GGGCACGCACGTCCAGCAGCA	0.582																																						ENST00000394001.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1156-1158)gaC>gaT		keratin 34		A		5,4401		0,5,2198	173.0	145.0	155.0		1158	-10.1	0.0	17	dbSNP_134	155	0,8600		0,0,4300	no	coding-synonymous	KRT34	NM_021013.3		0,5,6498	AA,AG,GG		0.0,0.1135,0.0384		386/437	39535273	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	3885				epidermis development	intermediate filament	protein binding|structural molecule activity	g.chr17:39535273G>A	Y16790	CCDS11390.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131737	ENSG00000131737		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6452	protein-coding gene	gene with protein product	"""hard keratin type I 4"""	602763	"""keratin, hair, acidic, 4"""	KRTHA4		2431943, 9756910, 16831889	Standard	NM_021013		Approved	Ha-4	uc002hwm.3	O76011	OTTHUMG00000133436	ENST00000394001.1:c.1158C>T	17.37:g.39535273G>A							p.D386D	NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN			6	1188	-		Breast(137;0.000496)	386			Coil 2.|Rod.		Q8IUT8|Q8N4W2	Silent	SNP	ENST00000394001.1	37	c.1158C>T	CCDS11390.1																																																																																				0.582	KRT34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257304.3	NM_021013		24	121	0	0	0	0.091800	0	24	121				
MED22	6837	broad.mit.edu	37	9	136212036	136212036	+	Silent	SNP	G	G	C	rs199628533		TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr9:136212036G>C	ENST00000491289.1	-	3	776	c.195C>G	c.(193-195)gcC>gcG	p.A65A	MED22_ENST00000471524.1_5'UTR|MED22_ENST00000344469.5_Silent_p.A65A|MED22_ENST00000476080.1_Silent_p.A65A|MED22_ENST00000343730.5_Silent_p.A65A|MED22_ENST00000371999.1_Intron			Q15528	MED22_HUMAN	mediator complex subunit 22	65						cytoplasm (GO:0005737)|mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			endometrium(1)|large_intestine(1)|ovary(1)|urinary_tract(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)		CGATGTTGGCGGCTCGCACAT	0.597																																						ENST00000491289.1																			0				endometrium(1)|large_intestine(1)|ovary(1)|urinary_tract(1)	4						c.(193-195)gcC>gcG		mediator complex subunit 22							122.0	83.0	96.0					9																	136212036		2203	4300	6503	SO:0001819	synonymous_variant	6837				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|mediator complex|soluble fraction	protein binding	g.chr9:136212036G>C		CCDS6963.1, CCDS6964.1	9q34.1	2008-02-05	2007-07-30	2007-07-30	ENSG00000148297	ENSG00000148297			11477	protein-coding gene	gene with protein product		185641	"""surfeit 5"""	SURF5		8499913, 15175163	Standard	NM_133640		Approved	Med24	uc004cdc.3	Q15528	OTTHUMG00000020869	ENST00000491289.1:c.195C>G	9.37:g.136212036G>C						MED22_ENST00000471524.1_5'UTR|MED22_ENST00000486395.1_Silent_p.A65A|MED22_ENST00000344469.5_Silent_p.A65A|MED22_ENST00000476080.1_Silent_p.A65A|MED22_ENST00000343730.5_Silent_p.A65A|MED22_ENST00000371999.1_Intron	p.A65A			Q15528	MED22_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)	3	776	-			65					B3KW83|B3KWX4|O76072|Q5T8U0	Silent	SNP	ENST00000491289.1	37	c.195C>G	CCDS6963.1																																																																																				0.597	MED22-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054898.2	NM_133640		5	33	0	0	0	0.029380	0	5	33				
ZNF460	10794	broad.mit.edu	37	19	57803200	57803200	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr19:57803200C>A	ENST00000360338.3	+	3	1613	c.1291C>A	c.(1291-1293)Cgc>Agc	p.R431S	ZNF460_ENST00000537645.1_Missense_Mutation_p.R390S	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	431					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGCTTTTACCCGCATGTCAGG	0.478																																						ENST00000360338.3																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1291-1293)Cgc>Agc		zinc finger protein 460							80.0	77.0	78.0					19																	57803200		2203	4300	6503	SO:0001583	missense	10794				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57803200C>A	X78931	CCDS12949.1	19q13.4	2013-01-08				ENSG00000197714		"""Zinc fingers, C2H2-type"", ""-"""	21628	protein-coding gene	gene with protein product		604755	"""zinc finger protein 272"""	ZNF272		15004467	Standard	NM_006635		Approved	HZF8	uc002qog.2	Q14592		ENST00000360338.3:c.1291C>A	19.37:g.57803200C>A	ENSP00000353491:p.Arg431Ser					ZNF460_ENST00000537645.1_Missense_Mutation_p.R390S	p.R431S	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	1613	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	431					A4FU64|B4DNX9|Q2VPC7|Q6VSF8	Missense_Mutation	SNP	ENST00000360338.3	37	c.1291C>A	CCDS12949.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.348992	0.41599	.	.	ENSG00000197714	ENST00000537645;ENST00000360338	T;T	0.16743	2.32;2.32	1.68	0.533	0.17121	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05456	0.0144	N	0.03999	-0.3	0.09310	N	1	B	0.33739	0.422	B	0.29077	0.098	T	0.28902	-1.0029	9	0.32370	T	0.25	.	0.7668	0.01016	0.2428:0.3551:0.2387:0.1633	.	431	Q14592	ZN460_HUMAN	S	390;431	ENSP00000446167:R390S;ENSP00000353491:R431S	ENSP00000353491:R431S	R	+	1	0	ZNF460	62495012	0.000000	0.05858	0.032000	0.17829	0.954000	0.61252	-0.802000	0.04545	0.225000	0.20959	0.650000	0.86243	CGC		0.478	ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465727.1	NM_006635		3	61	1	0	0.004672	0.115264	0.00505776	3	61				
FAM47C	442444	broad.mit.edu	37	X	37026817	37026817	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chrX:37026817C>T	ENST00000358047.3	+	1	386	c.334C>T	c.(334-336)Cca>Tca	p.P112S		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	112										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GCCAGCACAGCCAGCACGGAA	0.542																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(334-336)Cca>Tca		family with sequence similarity 47, member C							91.0	84.0	87.0					X																	37026817		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37026817C>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.334C>T	X.37:g.37026817C>T	ENSP00000367913:p.Pro112Ser						p.P112S	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	386	+			112					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.334C>T	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.339434	0.24339	.	.	ENSG00000198173	ENST00000358047	T	0.22134	1.97	0.502	0.502	0.16932	.	.	.	.	.	T	0.21881	0.0527	L	0.44542	1.39	0.09310	N	1	P	0.43938	0.822	P	0.47864	0.559	T	0.13229	-1.0517	9	0.44086	T	0.13	.	6.651	0.22961	0.0:0.9999:0.0:1.0E-4	.	112	Q5HY64	FA47C_HUMAN	S	112	ENSP00000367913:P112S	ENSP00000367913:P112S	P	+	1	0	FAM47C	36936738	0.120000	0.22244	0.001000	0.08648	0.002000	0.02628	1.371000	0.34250	0.479000	0.27511	0.292000	0.19580	CCA		0.542	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		22	120	0	0	0	0.108266	0	22	120				
PMP22	5376	broad.mit.edu	37	17	15134248	15134248	+	Missense_Mutation	SNP	G	G	A	rs28936682		TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr17:15134248G>A	ENST00000395938.2	-	5	663	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W	PMP22_ENST00000395936.1_3'UTR|PMP22_ENST00000494511.1_Missense_Mutation_p.A97V|PMP22_ENST00000312280.3_Missense_Mutation_p.R157W	NM_001281455.1|NM_153321.1	NP_001268384.1|NP_696996.1	Q01453	PMP22_HUMAN	peripheral myelin protein 22	157			R -> G (in dbSNP:rs28936682). {ECO:0000269|PubMed:10632107}.|R -> W (in DSS; dbSNP:rs28936682). {ECO:0000269|PubMed:10211478}.		cell death (GO:0008219)|peripheral nervous system development (GO:0007422)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8				UCEC - Uterine corpus endometrioid carcinoma (92;0.0884)|BRCA - Breast invasive adenocarcinoma(8;4.92e-06)		TCGCGTTTCCGCAAGATCACA	0.547																																						ENST00000395938.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8	GRCh37	CM000029|CM991060	PMP22	M	rs28936682	c.(469-471)Cgg>Tgg		peripheral myelin protein 22							83.0	80.0	81.0					17																	15134248		2203	4300	6503	SO:0001583	missense	5376				peripheral nervous system development|synaptic transmission	integral to membrane		g.chr17:15134248G>A	D11428	CCDS11168.1	17p12	2014-09-17			ENSG00000109099	ENSG00000109099			9118	protein-coding gene	gene with protein product		601097				8482547, 1497668	Standard	NM_001281456		Approved	HNPP, GAS-3, Sp110	uc002goj.3	Q01453	OTTHUMG00000058960	ENST00000395938.2:c.469C>T	17.37:g.15134248G>A	ENSP00000379269:p.Arg157Trp					PMP22_ENST00000395936.1_3'UTR|PMP22_ENST00000494511.1_Missense_Mutation_p.A97V|PMP22_ENST00000312280.3_Missense_Mutation_p.R157W	p.R157W	NM_153321.1	NP_696996.1	Q01453	PMP22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0884)|BRCA - Breast invasive adenocarcinoma(8;4.92e-06)	5	663	-			157		R -> G (in dbSNP:rs28936682).|R -> W (in DSS; dbSNP:rs28936682).			Q8WV01	Missense_Mutation	SNP	ENST00000395938.2	37	c.469C>T	CCDS11168.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783870	0.70222	.	.	ENSG00000109099	ENST00000395938;ENST00000312280;ENST00000426385	D;D	0.97016	-4.21;-4.21	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.98128	0.9382	M	0.86864	2.845	0.80722	A	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98866	1.0764	9	0.87932	D	0	-46.1731	14.0021	0.64439	0.0:0.0:0.8481:0.1518	rs28936682	157	Q01453	PMP22_HUMAN	W	157;157;146	ENSP00000379269:R157W;ENSP00000308937:R157W	ENSP00000308937:R157W	R	-	1	2	PMP22	15074973	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.081000	0.50120	2.630000	0.89119	0.563000	0.77884	CGG		0.547	PMP22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130378.1	NM_000304		4	89	0	0	0	0.009096	0	4	89				
RHPN2	85415	broad.mit.edu	37	19	33471132	33471132	+	Missense_Mutation	SNP	T	T	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr19:33471132T>A	ENST00000254260.3	-	15	1866	c.1831A>T	c.(1831-1833)Atg>Ttg	p.M611L	RHPN2_ENST00000400226.4_Missense_Mutation_p.M460L|RHPN2_ENST00000588683.1_5'UTR	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	611					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					GTTTTCTGCATTCCCACGGAG	0.408																																						ENST00000254260.3																			0				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44						c.(1831-1833)Atg>Ttg		rhophilin, Rho GTPase binding protein 2							75.0	67.0	70.0					19																	33471132		2203	4297	6500	SO:0001583	missense	85415				signal transduction	perinuclear region of cytoplasm	protein binding	g.chr19:33471132T>A	AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.1831A>T	19.37:g.33471132T>A	ENSP00000254260:p.Met611Leu					RHPN2_ENST00000588683.1_5'UTR|RHPN2_ENST00000400226.4_Missense_Mutation_p.M460L	p.M611L	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN			15	1866	-	Esophageal squamous(110;0.137)		611					B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Missense_Mutation	SNP	ENST00000254260.3	37	c.1831A>T	CCDS12427.1	.	.	.	.	.	.	.	.	.	.	T	12.02	1.811704	0.32053	.	.	ENSG00000131941	ENST00000254260;ENST00000544458;ENST00000400226	T;T	0.38722	2.1;1.12	4.94	4.94	0.65067	.	0.087086	0.85682	D	0.000000	T	0.27524	0.0676	L	0.27975	0.815	0.46131	D	0.998887	B	0.06786	0.001	B	0.06405	0.002	T	0.10109	-1.0644	10	0.05436	T	0.98	2.0E-4	14.9184	0.70815	0.0:0.0:0.0:1.0	.	611	Q8IUC4	RHPN2_HUMAN	L	611;341;460	ENSP00000254260:M611L;ENSP00000402244:M460L	ENSP00000254260:M611L	M	-	1	0	RHPN2	38162972	1.000000	0.71417	0.986000	0.45419	0.888000	0.51559	3.365000	0.52335	1.979000	0.57680	0.472000	0.43445	ATG		0.408	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2	NM_033103		18	86	0	0	0	0.043863	0	18	86				
TICRR	90381	broad.mit.edu	37	15	90126125	90126125	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr15:90126125T>A	ENST00000268138.7	+	2	968	c.863T>A	c.(862-864)tTg>tAg	p.L288*	RP11-429B14.1_ENST00000559041.1_RNA|TICRR_ENST00000560985.1_Nonsense_Mutation_p.L288*|RP11-429B14.3_ENST00000560477.1_RNA			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	288					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										TTAAACCGTTTGCTCTACAAT	0.418																																						ENST00000268138.7																			0											c.(862-864)tTg>tAg		TOPBP1-interacting checkpoint and replication regulator							101.0	97.0	98.0					15																	90126125		1937	4131	6068	SO:0001587	stop_gained	90381							g.chr15:90126125T>A	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.863T>A	15.37:g.90126125T>A	ENSP00000268138:p.Leu288*					TICRR_ENST00000560985.1_Nonsense_Mutation_p.L288*|RP11-429B14.1_ENST00000559041.1_RNA	p.L288*							2	968	+								B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Nonsense_Mutation	SNP	ENST00000268138.7	37	c.863T>A	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	T	24.6	4.545644	0.86022	.	.	ENSG00000140534	ENST00000268138	.	.	.	5.44	5.44	0.79542	.	0.075350	0.53938	D	0.000047	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.1475	15.7855	0.78300	0.0:0.0:0.0:1.0	.	.	.	.	X	288	.	ENSP00000268138:L288X	L	+	2	0	C15orf42	87927129	1.000000	0.71417	0.861000	0.33841	0.268000	0.26511	5.254000	0.65457	2.193000	0.70182	0.402000	0.26972	TTG		0.418	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		28	77	0	0	0	0.134883	0	28	77				
TECPR1	25851	broad.mit.edu	37	7	97874215	97874215	+	Silent	SNP	A	A	G			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr7:97874215A>G	ENST00000447648.2	-	4	689	c.390T>C	c.(388-390)ggT>ggC	p.G130G	TECPR1_ENST00000542604.1_Silent_p.G51G|TECPR1_ENST00000379795.3_Silent_p.G130G			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	130					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CAGTGGGTTCACCTCCAAAAT	0.642																																						ENST00000447648.2																			0				central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(388-390)ggT>ggC		tectonin beta-propeller repeat containing 1							59.0	73.0	69.0					7																	97874215		2158	4243	6401	SO:0001819	synonymous_variant	25851					integral to membrane	protein binding	g.chr7:97874215A>G		CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.390T>C	7.37:g.97874215A>G						TECPR1_ENST00000379795.3_Silent_p.G130G|TECPR1_ENST00000542604.1_Silent_p.G51G	p.G130G			Q7Z6L1	TCPR1_HUMAN			4	689	-			130					A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Silent	SNP	ENST00000447648.2	37	c.390T>C	CCDS47648.1																																																																																				0.642	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395		8	27	0	0	0	0.047766	0	8	27				
DCAF13	25879	broad.mit.edu	37	8	104444929	104444929	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr8:104444929A>G	ENST00000297579.5	+	7	1478	c.1201A>G	c.(1201-1203)Atg>Gtg	p.M401V	DCAF13_ENST00000521999.1_3'UTR	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	249					protein ubiquitination (GO:0016567)|rRNA processing (GO:0006364)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						TTGGAACCCTATGGAAGCTTT	0.333																																						ENST00000297579.5																			0				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(1201-1203)Atg>Gtg		DDB1 and CUL4 associated factor 13							82.0	90.0	87.0					8																	104444929		2203	4298	6501	SO:0001583	missense	25879				rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex		g.chr8:104444929A>G	AK074725	CCDS34934.1	8q22.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000164934	ENSG00000164934		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	24535	protein-coding gene	gene with protein product			"""WD repeats and SOF1 domain containing"""	WDSOF1		11042152	Standard	NM_015420		Approved	DKFZP564O0463, Gm83, HSPC064	uc003yln.3	Q9NV06	OTTHUMG00000164888	ENST00000297579.5:c.1201A>G	8.37:g.104444929A>G	ENSP00000297579:p.Met401Val					DCAF13_ENST00000521999.1_3'UTR	p.M401V	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN			7	1478	+			249					Q3MII9|Q8NCH8|Q8TC51|Q96JY7|Q9NZX3	Missense_Mutation	SNP	ENST00000297579.5	37	c.1201A>G	CCDS34934.1	.	.	.	.	.	.	.	.	.	.	A	19.67	3.870370	0.72065	.	.	ENSG00000164934	ENST00000297579	T	0.01279	5.06	5.45	5.45	0.79879	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.03959	0.0111	M	0.82193	2.58	0.80722	D	1	P	0.38420	0.63	B	0.37267	0.245	T	0.16100	-1.0414	10	0.72032	D	0.01	-26.9987	15.7996	0.78443	1.0:0.0:0.0:0.0	.	249	Q9NV06	DCA13_HUMAN	V	401	ENSP00000297579:M401V	ENSP00000297579:M401V	M	+	1	0	DCAF13	104514105	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.649000	0.91067	2.189000	0.69895	0.460000	0.39030	ATG		0.333	DCAF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380797.2	NM_015420		16	67	0	0	0	0.146539	0	16	67				
RAB40B	10966	broad.mit.edu	37	17	80615875	80615875	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr17:80615875C>T	ENST00000571995.1	-	6	832	c.701G>A	c.(700-702)aGg>aAg	p.R234K	RAB40B_ENST00000538809.2_3'UTR|RAB40B_ENST00000571880.1_5'Flank|RAB40B_ENST00000269347.6_Missense_Mutation_p.R55K	NM_006822.2	NP_006813.1	Q12829	RB40B_HUMAN	RAB40B, member RAS oncogene family	234					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			GTGCATCATCCTGGCATTCAG	0.637																																						ENST00000571995.1																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10						c.(700-702)aGg>aAg		RAB40B, member RAS oncogene family							162.0	146.0	151.0					17																	80615875		2203	4300	6503	SO:0001583	missense	10966				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr17:80615875C>T	U05227	CCDS11816.1	17q25.3	2014-08-12			ENSG00000141542	ENSG00000141542		"""RAB, member RAS oncogene"""	18284	protein-coding gene	gene with protein product						11697911	Standard	NM_006822		Approved	SEC4L, RAR	uc002kft.3	Q12829	OTTHUMG00000177806	ENST00000571995.1:c.701G>A	17.37:g.80615875C>T	ENSP00000461785:p.Arg234Lys					RAB40B_ENST00000269347.6_Missense_Mutation_p.R55K|RAB40B_ENST00000538809.2_3'UTR	p.R234K	NM_006822.2	NP_006813.1	Q12829	RB40B_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)		6	832	-	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	234					Q8WVG3	Missense_Mutation	SNP	ENST00000571995.1	37	c.701G>A	CCDS11816.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.731741	0.30684	.	.	ENSG00000141542	ENST00000269347;ENST00000538809	.	.	.	4.79	3.79	0.43588	.	0.000000	0.85682	D	0.000000	T	0.56659	0.2000	M	0.66939	2.045	0.80722	D	1	B	0.14012	0.009	B	0.12156	0.007	T	0.53920	-0.8370	9	0.07990	T	0.79	.	14.5675	0.68188	0.1479:0.8521:0.0:0.0	.	234	Q12829	RB40B_HUMAN	K	234;268	.	ENSP00000269347:R234K	R	-	2	0	RAB40B	78209164	1.000000	0.71417	0.952000	0.39060	0.119000	0.20118	1.818000	0.39012	1.275000	0.44379	0.563000	0.77884	AGG		0.637	RAB40B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439007.1			6	193	0	0	0	0.021553	0	6	193				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		5	66	0	0	0	0.014758	0	5	66				
OR4K17	390436	broad.mit.edu	37	14	20585784	20585784	+	Missense_Mutation	SNP	C	C	A	rs558231474		TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr14:20585784C>A	ENST00000315543.4	+	1	219	c.219C>A	c.(217-219)aaC>aaA	p.N73K		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	45						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)		TTTTGGGTAACCTTCTTATTA	0.413																																						ENST00000315543.4																			0				kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21						c.(217-219)aaC>aaA		olfactory receptor, family 4, subfamily K, member 17							299.0	289.0	292.0					14																	20585784		2203	4300	6503	SO:0001583	missense	390436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20585784C>A		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.219C>A	14.37:g.20585784C>A	ENSP00000319197:p.Asn73Lys						p.N73K	NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	219	+	all_cancers(95;0.00108)		45					Q6IF12	Missense_Mutation	SNP	ENST00000315543.4	37	c.219C>A	CCDS32030.1	.	.	.	.	.	.	.	.	.	.	.	12.47	1.948469	0.34377	.	.	ENSG00000176230	ENST00000315543	T	0.75704	-0.96	2.86	1.95	0.26073	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36555	U	0.002538	D	0.89743	0.6803	H	0.98682	4.3	0.28795	N	0.899105	D	0.89917	1.0	D	0.97110	1.0	T	0.82617	-0.0369	10	0.87932	D	0	.	9.227	0.37414	0.0:0.8736:0.0:0.1264	.	45	Q8NGC6	OR4KH_HUMAN	K	73	ENSP00000319197:N73K	ENSP00000319197:N73K	N	+	3	2	OR4K17	19655624	0.000000	0.05858	0.992000	0.48379	0.387000	0.30353	-1.154000	0.03166	1.579000	0.49836	0.404000	0.27445	AAC		0.413	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410346.1			15	354	1	0	0.00316338	0.132662	0.00345628	15	354				
MECP2	4204	broad.mit.edu	37	X	153296615	153296615	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chrX:153296615C>A	ENST00000303391.6	-	4	913	c.664G>T	c.(664-666)Gtc>Ttc	p.V222F	MECP2_ENST00000407218.1_3'UTR|MECP2_ENST00000460227.1_5'Flank|MECP2_ENST00000453960.2_Missense_Mutation_p.V234F	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2	222					adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542)	cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCATCTTGACAAGGAGCTTC	0.627																																						ENST00000303391.6																			0				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23						c.(664-666)Gtc>Ttc		methyl CpG binding protein 2 (Rett syndrome)							131.0	133.0	132.0					X																	153296615		2203	4300	6503	SO:0001583	missense	4204				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity	g.chrX:153296615C>A	AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057			6990	protein-coding gene	gene with protein product		300005	"""mental retardation, X-linked 16"", ""mental retardation, X-linked 79"", ""Rett syndrome"", ""methyl CpG binding protein 2 (Rett syndrome)"""	RTT, MRX16, MRX79		1606614, 10508514	Standard	NM_004992		Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.664G>T	X.37:g.153296615C>A	ENSP00000301948:p.Val222Phe					MECP2_ENST00000407218.1_3'UTR|MECP2_ENST00000453960.2_Missense_Mutation_p.V234F	p.V222F	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN			4	913	-	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		222					O15233|Q6QHH9|Q7Z384	Missense_Mutation	SNP	ENST00000303391.6	37	c.664G>T	CCDS14741.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.009105	0.75046	.	.	ENSG00000169057	ENST00000303391;ENST00000545451;ENST00000453960;ENST00000369964	D;D	0.94828	-3.52;-3.53	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.95497	0.8537	L	0.32530	0.975	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.991	D	0.96228	0.9166	10	0.66056	D	0.02	-15.8118	17.0301	0.86458	0.0:1.0:0.0:0.0	.	234;222	P51608-2;P51608	.;MECP2_HUMAN	F	222;222;234;222	ENSP00000301948:V222F;ENSP00000395535:V234F	ENSP00000301948:V222F	V	-	1	0	MECP2	152949809	1.000000	0.71417	0.930000	0.37139	0.977000	0.68977	7.297000	0.78799	2.285000	0.76669	0.600000	0.82982	GTC		0.627	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061144.1	NM_004992		7	319	1	0	0.0381472	0.038147	0.0405529	7	319				
WDR17	116966	broad.mit.edu	37	4	177050013	177050013	+	Splice_Site	SNP	T	T	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr4:177050013T>C	ENST00000280190.4	+	7	1141		c.e7+2		WDR17_ENST00000508596.1_Splice_Site|WDR17_ENST00000393643.2_Splice_Site|WDR17_ENST00000507824.2_Splice_Site			Q8IZU2	WDR17_HUMAN	WD repeat domain 17											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GAAAAAAGTGTAAGTAAAAAT	0.244																																						ENST00000393643.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92						c.e6+2		WD repeat domain 17							24.0	24.0	24.0					4																	177050013		2192	4278	6470	SO:0001630	splice_region_variant	116966							g.chr4:177050013T>C	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.985+2T>C	4.37:g.177050013T>C						WDR17_ENST00000280190.4_Splice_Site|WDR17_ENST00000508596.1_Splice_Site|WDR17_ENST00000507824.2_Splice_Site		NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	6	1165	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)						E7EQX0|Q0QD35	Splice_Site	SNP	ENST00000280190.4	37		CCDS3825.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.030798	0.75504	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3459	0.74337	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR17	177287007	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.258000	0.78371	2.028000	0.59812	0.477000	0.44152	.		0.244	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2		Intron	9	27	0	0	0	0.058154	0	9	27				
AFAP1L1	134265	broad.mit.edu	37	5	148687091	148687091	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr5:148687091G>A	ENST00000296721.4	+	7	760	c.662G>A	c.(661-663)tGc>tAc	p.C221Y	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.C221Y|AFAP1L1_ENST00000522492.1_3'UTR	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	221	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAGGGAATGCAGGATATGT	0.607																																						ENST00000296721.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26						c.(661-663)tGc>tAc		actin filament associated protein 1-like 1							78.0	65.0	70.0					5																	148687091		2203	4300	6503	SO:0001583	missense	134265						protein binding	g.chr5:148687091G>A	AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"""Pleckstrin homology (PH) domain containing"""	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.662G>A	5.37:g.148687091G>A	ENSP00000296721:p.Cys221Tyr					AFAP1L1_ENST00000515000.1_Missense_Mutation_p.C221Y|AFAP1L1_ENST00000522492.1_3'UTR	p.C221Y	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	760	+			221			PH 1.		Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Missense_Mutation	SNP	ENST00000296721.4	37	c.662G>A	CCDS34274.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.283180	0.80803	.	.	ENSG00000157510	ENST00000296721;ENST00000515000	T;T	0.11495	2.77;2.77	4.89	4.89	0.63831	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.043965	0.85682	D	0.000000	T	0.33411	0.0862	M	0.65975	2.015	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.83275	0.989;0.948;0.996	T	0.04840	-1.0923	10	0.87932	D	0	-28.3548	18.243	0.89974	0.0:0.0:1.0:0.0	.	221;221;221	Q8TED9-2;Q8TED9;Q8TED9-3	.;AF1L1_HUMAN;.	Y	221	ENSP00000296721:C221Y;ENSP00000424427:C221Y	ENSP00000296721:C221Y	C	+	2	0	AFAP1L1	148667284	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.447000	0.73465	2.543000	0.85770	0.561000	0.74099	TGC		0.607	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373443.1	NM_152406		21	58	0	0	0	0.055883	0	21	58				
METTL4	64863	broad.mit.edu	37	18	2544671	2544671	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr18:2544671T>A	ENST00000574538.1	-	7	1937	c.1162A>T	c.(1162-1164)Aaa>Taa	p.K388*	METTL4_ENST00000319888.6_Nonsense_Mutation_p.K388*	NM_022840.3	NP_073751.3	Q8N3J2	METL4_HUMAN	methyltransferase like 4	388					nucleobase-containing compound metabolic process (GO:0006139)		methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						AGAGCAGTTTTTTCTTGAACC	0.338																																						ENST00000319888.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						c.(1162-1164)Aaa>Taa		methyltransferase like 4							102.0	99.0	100.0					18																	2544671		2203	4300	6503	SO:0001587	stop_gained	64863				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding	g.chr18:2544671T>A		CCDS11826.1	18p11.31	2008-02-05			ENSG00000101574	ENSG00000101574			24726	protein-coding gene	gene with protein product						12477932	Standard	NM_022840		Approved	FLJ23017, HsT661	uc002klh.4	Q8N3J2	OTTHUMG00000131482	ENST00000574538.1:c.1162A>T	18.37:g.2544671T>A	ENSP00000458290:p.Lys388*					METTL4_ENST00000574538.1_Nonsense_Mutation_p.K388*	p.K388*			Q8N3J2	METL4_HUMAN			7	1960	-			388					B2RNA1|Q2TAA7|Q9H5U9	Nonsense_Mutation	SNP	ENST00000574538.1	37	c.1162A>T	CCDS11826.1	.	.	.	.	.	.	.	.	.	.	T	41	8.790610	0.98954	.	.	ENSG00000101574	ENST00000319888	.	.	.	5.09	2.6	0.31112	.	0.515600	0.19891	N	0.103737	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-13.8949	8.5339	0.33351	0.0:0.1535:0.0:0.8465	.	.	.	.	X	388	.	ENSP00000320349:K388X	K	-	1	0	METTL4	2534671	0.770000	0.28543	0.080000	0.20451	0.979000	0.70002	1.395000	0.34520	0.247000	0.21414	0.482000	0.46254	AAA		0.338	METTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254326.3	NM_022840		19	48	0	0	0	0.055883	0	19	48				
TMEM91	641649	broad.mit.edu	37	19	41888745	41888745	+	Silent	SNP	C	C	T	rs200407337		TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr19:41888745C>T	ENST00000392002.2	+	3	939	c.279C>T	c.(277-279)caC>caT	p.H93H	BCKDHA_ENST00000595085.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron|TMEM91_ENST00000604123.1_Silent_p.H150H|CTC-435M10.3_ENST00000604424.1_Intron|TMEM91_ENST00000436170.2_Silent_p.H93H|TMEM91_ENST00000447302.2_Silent_p.H93H|TMEM91_ENST00000413014.2_Silent_p.H93H|TMEM91_ENST00000356385.4_Silent_p.H93H|TMEM91_ENST00000542945.1_Silent_p.H93H|TMEM91_ENST00000539627.1_Silent_p.H93H|TMEM91_ENST00000544232.1_Silent_p.H93H	NM_001098821.1	NP_001092291.1	Q6ZNR0	TMM91_HUMAN	transmembrane protein 91	93					hematopoietic progenitor cell differentiation (GO:0002244)|response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)				lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	5						TTCTACCCCACGACCACCTCG	0.572													C|||	1	0.000199681	0.0	0.0	5008	,	,		17608	0.001		0.0	False		,,,				2504	0.0					ENST00000539627.1																			0				lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	5						c.(277-279)caC>caT		transmembrane protein 91							459.0	464.0	463.0					19																	41888745		2124	4227	6351	SO:0001819	synonymous_variant	641649							g.chr19:41888745C>T	AK130820, BC063705	CCDS42571.1, CCDS42572.1, CCDS46082.1, CCDS46083.1, CCDS46084.1	19q13.2	2009-10-16							32393	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 6"""					12477932	Standard	NM_001098824		Approved	FLJ27310, IFITMD6		Q6ZNR0		ENST00000392002.2:c.279C>T	19.37:g.41888745C>T						TMEM91_ENST00000604123.1_Silent_p.H150H|TMEM91_ENST00000356385.4_Silent_p.H93H|CTC-435M10.3_ENST00000540732.1_Intron|TMEM91_ENST00000447302.2_Silent_p.H93H|TMEM91_ENST00000542945.1_Silent_p.H93H|BCKDHA_ENST00000595085.1_Intron|TMEM91_ENST00000392002.2_Silent_p.H93H|TMEM91_ENST00000413014.2_Silent_p.H93H|TMEM91_ENST00000544232.1_Silent_p.H93H|TMEM91_ENST00000436170.2_Silent_p.H93H	p.H93H							3	600	+								C9J9D1|C9JZ62|C9K046|Q6P434	Silent	SNP	ENST00000392002.2	37	c.279C>T	CCDS42571.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	7.918	0.737855	0.15574	.	.	ENSG00000142046	ENST00000546362;ENST00000535712	.	.	.	4.58	-7.51	0.01346	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.0799	0.14651	0.1056:0.1636:0.1051:0.6257	.	.	.	.	X	41;14	.	.	R	+	1	2	TMEM91	46580585	0.231000	0.23751	0.823000	0.32752	0.777000	0.43975	-0.355000	0.07671	-1.078000	0.03117	-0.266000	0.10368	CGA		0.572	TMEM91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398302.2			142	531	0	0	0	0.139131	0	142	531				
MTOR	2475	broad.mit.edu	37	1	11217289	11217289	+	Silent	SNP	A	A	G			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr1:11217289A>G	ENST00000361445.4	-	30	4465	c.4389T>C	c.(4387-4389)taT>taC	p.Y1463Y		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1463	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TTTTCTTGTCATAGGCCACAA	0.537																																						ENST00000361445.4																			0				breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(4387-4389)taT>taC		mechanistic target of rapamycin (serine/threonine kinase)							175.0	145.0	155.0					1																	11217289		2203	4300	6503	SO:0001819	synonymous_variant	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11217289A>G	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.4389T>C	1.37:g.11217289A>G							p.Y1463Y	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			30	4465	-			1463			FAT.		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Silent	SNP	ENST00000361445.4	37	c.4389T>C	CCDS127.1																																																																																				0.537	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		25	130	0	0	0	0.076483	0	25	130				
DCAF17	80067	broad.mit.edu	37	2	172300079	172300079	+	Missense_Mutation	SNP	A	A	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr2:172300079A>C	ENST00000375255.3	+	3	604	c.277A>C	c.(277-279)Aaa>Caa	p.K93Q	DCAF17_ENST00000468592.1_3'UTR|DCAF17_ENST00000539783.1_Missense_Mutation_p.K93Q	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	93					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						AAAATGTTCCAAATCAGAAAA	0.318																																						ENST00000375255.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						c.(277-279)Aaa>Caa		DDB1 and CUL4 associated factor 17							120.0	111.0	114.0					2																	172300079		1799	4070	5869	SO:0001583	missense	80067					CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus		g.chr2:172300079A>C	AK023158	CCDS2243.2, CCDS54419.1	2q31.1	2014-01-28	2009-07-17	2009-07-17	ENSG00000115827	ENSG00000115827		"""DDB1 and CUL4 associated factors"""	25784	protein-coding gene	gene with protein product	"""Woodhouse-Sakati syndrome"""	612515	"""chromosome 2 open reading frame 37"""	C2orf37			Standard	NM_001164821		Approved	FLJ13096	uc002ugx.3	Q5H9S7	OTTHUMG00000132259	ENST00000375255.3:c.277A>C	2.37:g.172300079A>C	ENSP00000364404:p.Lys93Gln					DCAF17_ENST00000468592.1_3'UTR|DCAF17_ENST00000539783.1_Missense_Mutation_p.K93Q	p.K93Q	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN			3	604	+			93					B2RTW5|Q53TN3|Q9H908	Missense_Mutation	SNP	ENST00000375255.3	37	c.277A>C	CCDS2243.2	.	.	.	.	.	.	.	.	.	.	A	18.87	3.716460	0.68844	.	.	ENSG00000115827	ENST00000375255;ENST00000539783	T;T	0.50277	0.77;0.75	5.36	5.36	0.76844	.	0.331079	0.30830	N	0.008797	T	0.42787	0.1218	L	0.50333	1.59	0.29914	N	0.823356	P;B	0.39737	0.685;0.447	B;B	0.39299	0.296;0.147	T	0.51764	-0.8664	10	0.46703	T	0.11	-6.8621	10.5895	0.45302	0.9219:0.0:0.0781:0.0	.	93;93	F5H7W1;Q5H9S7	.;DCA17_HUMAN	Q	93	ENSP00000364404:K93Q;ENSP00000442238:K93Q	ENSP00000364404:K93Q	K	+	1	0	DCAF17	172008325	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.910000	0.63321	2.032000	0.59987	0.472000	0.43445	AAA		0.318	DCAF17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255342.2	NM_025000		14	50	0	0	0	0.132662	0	14	50				
SRPK1	6732	broad.mit.edu	37	6	35838125	35838125	+	Silent	SNP	T	T	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr6:35838125T>C	ENST00000373825.2	-	10	1209	c.924A>G	c.(922-924)gaA>gaG	p.E308E	SRPK1_ENST00000423325.2_Silent_p.E292E|SRPK1_ENST00000373822.1_Silent_p.E201E					SRSF protein kinase 1											endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						GACTCTCTGATTCTTCTTGCT	0.413																																					NSCLC(31;67 978 16289 24856 26454)	ENST00000373825.2																			0				endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(922-924)gaA>gaG		SRSF protein kinase 1							139.0	125.0	129.0					6																	35838125		1824	4076	5900	SO:0001819	synonymous_variant	6732				cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr6:35838125T>C	U09564	CCDS47415.1	6p21.31	2010-06-23	2010-06-23		ENSG00000096063	ENSG00000096063			11305	protein-coding gene	gene with protein product	"""SR protein kinase 1"", ""serine/arginine-rich splicing factor kinase 1"""	601939	"""SFRS protein kinase 1"""			8208298, 10198174	Standard	NM_003137		Approved	SFRSK1	uc003olj.3	Q96SB4	OTTHUMG00000014583	ENST00000373825.2:c.924A>G	6.37:g.35838125T>C						SRPK1_ENST00000373822.1_Silent_p.E201E|SRPK1_ENST00000423325.2_Silent_p.E292E	p.E308E			Q96SB4	SRPK1_HUMAN			10	1209	-			308			Protein kinase.			Silent	SNP	ENST00000373825.2	37	c.924A>G	CCDS47415.1																																																																																				0.413	SRPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040319.3	NM_003137		7	21	0	0	0	0.029380	0	7	21				
MYH7	4625	broad.mit.edu	37	14	23886884	23886884	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr14:23886884G>A	ENST00000355349.3	-	31	4343	c.4181C>T	c.(4180-4182)gCc>gTc	p.A1394V	CTD-2201G16.1_ENST00000557368.1_RNA|MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1394					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CAGCCGCTGGGCCAGCTTCTT	0.587																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(4180-4182)gCc>gTc		myosin, heavy chain 7, cardiac muscle, beta							35.0	37.0	37.0					14																	23886884		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23886884G>A	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4181C>T	14.37:g.23886884G>A	ENSP00000347507:p.Ala1394Val						p.A1394V	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	31	4343	-	all_cancers(95;2.54e-05)		1394					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.4181C>T	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.761445	0.89932	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	T	0.78707	-1.2	4.99	4.99	0.66335	Myosin tail (1);	.	.	.	.	T	0.78207	0.4247	L	0.55017	1.72	0.80722	D	1	B	0.25351	0.124	B	0.34385	0.181	T	0.75494	-0.3298	9	0.45353	T	0.12	.	18.4708	0.90774	0.0:0.0:1.0:0.0	.	1394	P12883	MYH7_HUMAN	V	1394;1399	ENSP00000347507:A1394V	ENSP00000347507:A1394V	A	-	2	0	MYH7	22956724	1.000000	0.71417	1.000000	0.80357	0.704000	0.40688	6.213000	0.72194	2.609000	0.88269	0.561000	0.74099	GCC		0.587	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		4	24	0	0	0	0.029380	0	4	24				
TFG	10342	broad.mit.edu	37	3	100467193	100467193	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr3:100467193G>A	ENST00000240851.4	+	8	1361	c.1021G>A	c.(1021-1023)Gtg>Atg	p.V341M	TFG_ENST00000418917.2_Missense_Mutation_p.V337M|TFG_ENST00000481203.1_3'UTR|TFG_ENST00000476228.1_Missense_Mutation_p.V337M|TFG_ENST00000490574.1_Missense_Mutation_p.V341M	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	341					cell death (GO:0008219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	signal transducer activity (GO:0004871)		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						TAATTATACTGTGGCTCCTGC	0.527			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""																																	ENST00000240851.4				Dom	yes		3	3q11-q12	10342	T	TRK-fused gene			"""E, L"""	"""NTRK1, ALK"""		"""papillary thyroid, ALCL, NSCLC"""	TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	0				large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						c.(1021-1023)Gtg>Atg		TRK-fused gene							73.0	76.0	75.0					3																	100467193		2203	4300	6503	SO:0001583	missense	10342				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity	g.chr3:100467193G>A	BC009241	CCDS2939.1, CCDS56266.1	3q12.2	2013-03-13	2001-12-04		ENSG00000114354	ENSG00000114354			11758	protein-coding gene	gene with protein product		602498				9169129, 23479643	Standard	NM_001007565		Approved	TF6, FLJ36137, SPG57	uc003dui.3	Q92734	OTTHUMG00000159085	ENST00000240851.4:c.1021G>A	3.37:g.100467193G>A	ENSP00000240851:p.Val341Met					TFG_ENST00000476228.1_Missense_Mutation_p.V337M|TFG_ENST00000490574.1_Missense_Mutation_p.V341M|TFG_ENST00000418917.2_Missense_Mutation_p.V337M|TFG_ENST00000481203.1_3'UTR	p.V341M	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN			8	1361	+			341					D3DN49|G5E9V1|Q15656|Q969I2	Missense_Mutation	SNP	ENST00000240851.4	37	c.1021G>A	CCDS2939.1	.	.	.	.	.	.	.	.	.	.	G	7.009	0.556326	0.13436	.	.	ENSG00000114354	ENST00000418917;ENST00000490574;ENST00000240851;ENST00000476228	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.44	5.44	0.79542	.	0.546151	0.19811	N	0.105539	T	0.25680	0.0625	N	0.08118	0	0.30936	N	0.726316	B;B	0.18166	0.026;0.015	B;B	0.14023	0.01;0.004	T	0.10200	-1.0640	10	0.33940	T	0.23	-8.8351	15.2749	0.73734	0.0:0.1402:0.8598:0.0	.	337;341	G5E9V1;Q92734	.;TFG_HUMAN	M	337;341;341;337	ENSP00000397182:V337M;ENSP00000419960:V341M;ENSP00000240851:V341M;ENSP00000417952:V337M	ENSP00000240851:V341M	V	+	1	0	TFG	101949883	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.601000	0.46249	2.937000	0.99478	0.650000	0.86243	GTG		0.527	TFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353242.1	NM_006070		5	128	0	0	0	0.014758	0	5	128				
YOD1	55432	broad.mit.edu	37	1	207222971	207222971	+	Silent	SNP	A	A	G			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr1:207222971A>G	ENST00000315927.4	-	2	487	c.441T>C	c.(439-441)ccT>ccC	p.P147P	YOD1_ENST00000391927.1_Silent_p.P103P|PFKFB2_ENST00000411990.2_Intron|YOD1_ENST00000367084.1_Silent_p.P103P	NM_018566.3	NP_061036.3	Q5VVQ6	OTU1_HUMAN	YOD1 deubiquitinase	147					cellular amino acid metabolic process (GO:0006520)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)		Lys48-specific deubiquitinase activity (GO:1990380)|metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11	Prostate(682;0.19)					TGGTAAGCACAGGCAAAGTTT	0.493																																						ENST00000367084.1																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11						c.(307-309)ccT>ccC		YOD1 deubiquitinase							70.0	61.0	64.0					1																	207222971		2203	4300	6503	SO:0001819	synonymous_variant	55432				cellular amino acid metabolic process|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination	intracellular	protein binding|ubiquitin-specific protease activity|zinc ion binding	g.chr1:207222971A>G		CCDS31002.1, CCDS60402.1	1q32.2	2013-06-04	2013-06-04		ENSG00000180667	ENSG00000180667		"""OTU domain containing"""	25035	protein-coding gene	gene with protein product		612023	"""YOD1 OTU deubiquinating enzyme 1 homolog ( yeast)"", ""YOD1 OTU deubiquinating enzyme 1 homolog (S. cerevisiae)"""				Standard	NM_001276320		Approved	DKFZp451J1719, OTUD2, DUBA8	uc001hfe.1	Q5VVQ6	OTTHUMG00000036032	ENST00000315927.4:c.441T>C	1.37:g.207222971A>G						YOD1_ENST00000391927.1_Silent_p.P103P|YOD1_ENST00000315927.4_Silent_p.P147P|PFKFB2_ENST00000411990.2_Intron	p.P103P	NM_001276320.1	NP_001263249.1	Q5VVQ6	OTU1_HUMAN			4	513	-	Prostate(682;0.19)		147			UBX-like.		B2RNX3|Q5VVQ5|Q6ZRS6|Q86T63|Q9P1L8	Silent	SNP	ENST00000315927.4	37	c.309T>C	CCDS31002.1																																																																																				0.493	YOD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087837.1	NM_018566		14	53	0	0	0	0.105934	0	14	53				
DNMT3A	1788	broad.mit.edu	37	2	25463523	25463523	+	Missense_Mutation	SNP	C	C	G			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr2:25463523C>G	ENST00000264709.3	-	18	2496	c.2159G>C	c.(2158-2160)cGc>cCc	p.R720P	DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R720P|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R531P|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R497P	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	720	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGGCCCTTGCGAGCAGGGTT	0.577			"""Mis, F, N, S"""		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"""Mis, F, N, S"""	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(2158-2160)cGc>cCc		DNA (cytosine-5-)-methyltransferase 3 alpha							143.0	119.0	127.0					2																	25463523		2203	4300	6503	SO:0001583	missense	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25463523C>G		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2159G>C	2.37:g.25463523C>G	ENSP00000264709:p.Arg720Pro					DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R720P|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R531P|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R497P	p.R720P	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			18	2496	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		720					E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	c.2159G>C	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.751517	0.69533	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.97303	-4.33;-4.33;-4.33;-4.33	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.98403	0.9469	M	0.90977	3.165	0.80722	D	1	D;D	0.67145	0.985;0.996	P;P	0.62491	0.903;0.778	D	0.98922	1.0784	10	0.87932	D	0	-8.5168	12.4181	0.55504	0.0:0.9184:0.0:0.0816	.	720;531	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	P	531;720;720;497	ENSP00000370122:R531P;ENSP00000324375:R720P;ENSP00000264709:R720P;ENSP00000384237:R497P	ENSP00000264709:R720P	R	-	2	0	DNMT3A	25317027	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	7.756000	0.85195	2.613000	0.88420	0.555000	0.69702	CGC		0.577	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		30	112	0	0	0	0.134883	0	30	112				
MOB2	81532	broad.mit.edu	37	11	1501649	1501649	+	Silent	SNP	C	C	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr11:1501649C>T	ENST00000329957.6	-	3	528	c.339G>A	c.(337-339)acG>acA	p.T113T	MOB2_ENST00000526462.1_5'UTR	NM_001172223.1	NP_001165694.1	Q70IA6	MOB2_HUMAN	MOB kinase activator 2	82					actin cytoskeleton organization (GO:0030036)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein phosphorylation (GO:0001934)	cytoplasm (GO:0005737)|neuron projection terminus (GO:0044306)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|kidney(2)|lung(1)	4						TCGTCTGACACGTCTCTCCTG	0.577																																						ENST00000329957.6																			0				breast(1)|kidney(2)|lung(1)	4						c.(337-339)acG>acA		MOB kinase activator 2							110.0	116.0	114.0					11																	1501649		2087	4214	6301	SO:0001819	synonymous_variant	81532					nucleus|perinuclear region of cytoplasm	metal ion binding	g.chr11:1501649C>T		CCDS53591.1	11p15.5	2011-09-28			ENSG00000182208	ENSG00000182208		"""MOB kinase activators"""	24904	protein-coding gene	gene with protein product	"""MOB2 Mps One Binder homolog (yeast)"""	611969				11223154, 15067004	Standard	NM_053005		Approved	HCCA2	uc010qwz.2	Q70IA6	OTTHUMG00000165545	ENST00000329957.6:c.339G>A	11.37:g.1501649C>T						MOB2_ENST00000526462.1_5'UTR	p.T113T	NM_001172223.1	NP_001165694.1	Q70IA6	MOB2_HUMAN			3	528	-			82					B4DKP3|Q96M67	Silent	SNP	ENST00000329957.6	37	c.339G>A	CCDS53591.1																																																																																				0.577	MOB2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000384770.1	NM_053005		13	79	0	0	0	0.132662	0	13	79				
RBBP4	5928	broad.mit.edu	37	1	33116038	33116038	+	5'Flank	SNP	G	G	T	rs368780988		TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr1:33116038G>T	ENST00000373493.5	+	0	0				RBBP4_ENST00000414241.3_5'Flank|ZBTB8OS_ENST00000468695.1_Nonsense_Mutation_p.Y43*|RBBP4_ENST00000458695.2_5'Flank|RBBP4_ENST00000544435.1_5'Flank|ZBTB8OS_ENST00000373501.2_Nonsense_Mutation_p.Y31*|ZBTB8OS_ENST00000341885.5_Nonsense_Mutation_p.Y43*|ZBTB8OS_ENST00000492007.1_5'UTR|RBBP4_ENST00000373485.1_5'Flank	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4						ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin assembly (GO:0031497)|chromatin remodeling (GO:0006338)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|nucleosome assembly (GO:0006334)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|NURF complex (GO:0016589)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				ACTCACACTCGTACTTCCTAT	0.498																																						ENST00000468695.1																			0				endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						c.(127-129)taC>taA		zinc finger and BTB domain containing 8 opposite strand							219.0	159.0	180.0					1																	33116038		2203	4300	6503	SO:0001631	upstream_gene_variant	339487							g.chr1:33116038G>T	BC053904	CCDS366.1, CCDS44105.1, CCDS44106.1	1p35.1	2014-07-17	2001-11-28		ENSG00000162521	ENSG00000162521		"""WD repeat domain containing"""	9887	protein-coding gene	gene with protein product		602923	"""retinoblastoma-binding protein 4"""			8350924, 14609955, 17531812	Standard	NM_005610		Approved	RbAp48, NURF55, lin-53	uc001bvr.3	Q09028	OTTHUMG00000007998		1.37:g.33116038G>T	Exception_encountered					ZBTB8OS_ENST00000373501.2_Nonsense_Mutation_p.Y31*|ZBTB8OS_ENST00000341885.5_Nonsense_Mutation_p.Y43*|ZBTB8OS_ENST00000492007.1_5'UTR	p.Y43*	NM_178547.2	NP_848642.1	Q8IWT0	ARCH_HUMAN			1	147	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	31					B2R6G9|B4DRH0|D3DPQ3|P31149|Q53H02|Q96BV9	Nonsense_Mutation	SNP	ENST00000373493.5	37	c.129C>A	CCDS366.1	.	.	.	.	.	.	.	.	.	.	G	35	5.477819	0.96291	.	.	ENSG00000176261	ENST00000341885;ENST00000468695;ENST00000373501	.	.	.	5.66	1.11	0.20524	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.7222	8.9617	0.35851	0.34:0.0:0.66:0.0	.	.	.	.	X	43;43;31	.	ENSP00000343760:Y43X	Y	-	3	2	ZBTB8OS	32888625	0.775000	0.28604	0.998000	0.56505	0.950000	0.60333	-0.091000	0.11146	0.014000	0.14944	0.655000	0.94253	TAC		0.498	RBBP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021957.3	NM_005610		14	78	1	0	1.02788e-11	0.033300	1.18912e-11	14	78				
TRPC4	7223	broad.mit.edu	37	13	38266346	38266346	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr13:38266346C>A	ENST00000379705.3	-	4	1881	c.1024G>T	c.(1024-1026)Gtc>Ttc	p.V342F	TRPC4_ENST00000447043.1_Missense_Mutation_p.V342F|TRPC4_ENST00000379681.3_Missense_Mutation_p.V342F|TRPC4_ENST00000355779.2_Missense_Mutation_p.V342F|TRPC4_ENST00000379679.1_Missense_Mutation_p.V169F|TRPC4_ENST00000379673.2_Missense_Mutation_p.V342F|TRPC4_ENST00000358477.2_Missense_Mutation_p.V342F|TRPC4_ENST00000338947.5_Missense_Mutation_p.V169F|TRPC4_ENST00000426868.2_Missense_Mutation_p.V342F			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	342					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		ACAGAGAAGACAGGAAAAAGA	0.478																																						ENST00000379705.3																			0				NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83						c.(1024-1026)Gtc>Ttc		transient receptor potential cation channel, subfamily C, member 4							112.0	103.0	106.0					13																	38266346		2203	4300	6503	SO:0001583	missense	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38266346C>A	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.1024G>T	13.37:g.38266346C>A	ENSP00000369027:p.Val342Phe					TRPC4_ENST00000379681.3_Missense_Mutation_p.V342F|TRPC4_ENST00000379679.1_Missense_Mutation_p.V169F|TRPC4_ENST00000338947.5_Missense_Mutation_p.V169F|TRPC4_ENST00000379673.2_Missense_Mutation_p.V342F|TRPC4_ENST00000426868.2_Missense_Mutation_p.V342F|TRPC4_ENST00000355779.2_Missense_Mutation_p.V342F|TRPC4_ENST00000358477.2_Missense_Mutation_p.V342F|TRPC4_ENST00000447043.1_Missense_Mutation_p.V342F	p.V342F			Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	4	1881	-			342					B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	c.1024G>T	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	C	7.853	0.724373	0.15439	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000426868;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73	5.32	5.32	0.75619	.	0.238434	0.42548	D	0.000694	T	0.34542	0.0901	N	0.11201	0.11	0.45415	D	0.998392	B;B;P;B;B;B	0.43701	0.007;0.007;0.815;0.095;0.004;0.002	B;B;B;B;B;B	0.43103	0.012;0.011;0.408;0.051;0.011;0.008	T	0.10590	-1.0623	10	0.18276	T	0.48	-23.9934	19.3656	0.94460	0.0:1.0:0.0:0.0	.	342;342;342;169;342;342	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	F	342;342;169;169;342;342;342;342;342	ENSP00000369027:V342F;ENSP00000369003:V342F;ENSP00000342580:V169F;ENSP00000369001:V169F;ENSP00000410133:V342F;ENSP00000348025:V342F;ENSP00000351264:V342F;ENSP00000368995:V342F;ENSP00000414316:V342F	ENSP00000342580:V169F	V	-	1	0	TRPC4	37164346	0.993000	0.37304	0.975000	0.42487	0.957000	0.61999	2.693000	0.47027	2.637000	0.89404	0.467000	0.42956	GTC		0.478	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		8	47	1	0	1.12685e-05	0.047766	1.25442e-05	8	47				
PPARGC1A	10891	broad.mit.edu	37	4	23816122	23816122	+	Silent	SNP	T	T	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr4:23816122T>A	ENST00000264867.2	-	8	1103	c.984A>T	c.(982-984)tcA>tcT	p.S328S	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	328	Interaction with PPARG.				androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|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 stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TGGGCTTCTTTGATGGTGGTG	0.507																																					Esophageal Squamous(29;694 744 13796 34866 44181)	ENST00000264867.2																			0				central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51						c.(982-984)tcA>tcT		peroxisome proliferator-activated receptor gamma, coactivator 1 alpha							129.0	132.0	131.0					4																	23816122		2203	4300	6503	SO:0001819	synonymous_variant	10891				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	g.chr4:23816122T>A	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.984A>T	4.37:g.23816122T>A						PPARGC1A_ENST00000509702.1_5'UTR	p.S328S	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN			8	1103	-		Breast(46;0.0503)	328			Interaction with PPARG.		B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Silent	SNP	ENST00000264867.2	37	c.984A>T	CCDS3429.1																																																																																				0.507	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		51	158	0	0	0	0.139131	0	51	158				
NOC3L	64318	broad.mit.edu	37	10	96099569	96099569	+	Missense_Mutation	SNP	A	A	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr10:96099569A>C	ENST00000371361.3	-	17	1989	c.1889T>G	c.(1888-1890)cTt>cGt	p.L630R	NOC3L_ENST00000543788.1_Missense_Mutation_p.L368R|NOC3L_ENST00000371350.1_Missense_Mutation_p.L630R	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	630					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				AAGGGTACAAAGGCGTTTGAT	0.408																																						ENST00000371361.3																			0				endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29						c.(1888-1890)cTt>cGt		nucleolar complex associated 3 homolog (S. cerevisiae)							111.0	104.0	106.0					10																	96099569		2203	4300	6503	SO:0001583	missense	64318					nuclear speck|nucleolus	binding	g.chr10:96099569A>C	AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"""chromosome 10 open reading frame 117"""	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.1889T>G	10.37:g.96099569A>C	ENSP00000360412:p.Leu630Arg					NOC3L_ENST00000371350.1_Missense_Mutation_p.L630R|NOC3L_ENST00000543788.1_Missense_Mutation_p.L368R	p.L630R	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN			17	1989	-		Colorectal(252;0.0897)	630					Q9H5M6|Q9H9D8	Missense_Mutation	SNP	ENST00000371361.3	37	c.1889T>G	CCDS7433.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.456173	0.84209	.	.	ENSG00000173145	ENST00000543788;ENST00000371361;ENST00000371350	T;T;T	0.39997	1.05;1.05;1.05	5.28	5.28	0.74379	CCAAT-binding factor (1);	0.000000	0.85682	D	0.000000	T	0.73289	0.3568	M	0.94101	3.495	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81551	-0.0881	10	0.87932	D	0	-12.5699	15.504	0.75722	1.0:0.0:0.0:0.0	.	630	Q8WTT2	NOC3L_HUMAN	R	368;630;630	ENSP00000437838:L368R;ENSP00000360412:L630R;ENSP00000360401:L630R	ENSP00000360401:L630R	L	-	2	0	NOC3L	96089559	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.910000	0.92685	2.134000	0.65973	0.459000	0.35465	CTT		0.408	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049466.1	NM_022451		18	58	0	0	0	0.033300	0	18	58				
TYW1	55253	broad.mit.edu	37	7	66479413	66479413	+	Silent	SNP	T	T	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr7:66479413T>C	ENST00000359626.5	+	5	599	c.435T>C	c.(433-435)acT>acC	p.T145T		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	145	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)	p.T145T(1)		breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				GCCTACCAACTGAAAGTGCAG	0.428																																						ENST00000359626.5																			1	Substitution - coding silent(1)	p.T145T(1)	urinary_tract(1)	breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46						c.(433-435)acT>acC		tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)																																				SO:0001819	synonymous_variant	55253				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:66479413T>C	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"""	611243	"""radical S-adenosyl methionine and flavodoxin domains 1"""	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.435T>C	7.37:g.66479413T>C							p.T145T	NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN			5	599	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	145			Flavodoxin-like.		Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Silent	SNP	ENST00000359626.5	37	c.435T>C	CCDS5538.1																																																																																				0.428	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		3	119	0	0	0	0.115264	0	3	119				
SPTBN5	51332	broad.mit.edu	37	15	42169539	42169539	+	Missense_Mutation	SNP	G	G	C	rs377585270		TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr15:42169539G>C	ENST00000320955.6	-	18	3713	c.3486C>G	c.(3484-3486)gaC>gaG	p.D1162E		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1162					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GGCTCTGAGCGTCCAGCTGCT	0.627																																						ENST00000320955.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(3484-3486)gaC>gaG		spectrin, beta, non-erythrocytic 5							18.0	20.0	19.0					15																	42169539		2034	4192	6226	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42169539G>C	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.3486C>G	15.37:g.42169539G>C	ENSP00000317790:p.Asp1162Glu						p.D1162E	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	18	3713	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	1162						Missense_Mutation	SNP	ENST00000320955.6	37	c.3486C>G		.	.	.	.	.	.	.	.	.	.	.	0.013	-1.625193	0.00820	.	.	ENSG00000137877	ENST00000320955	T	0.45276	0.9	4.96	2.06	0.26882	.	0.446893	0.20852	N	0.084519	T	0.11324	0.0276	N	0.01800	-0.715	0.09310	N	0.99999	B	0.06786	0.001	B	0.09377	0.004	T	0.29761	-1.0001	10	0.02654	T	1	.	2.388	0.04371	0.142:0.4116:0.286:0.1604	.	1162	Q9NRC6	SPTN5_HUMAN	E	1162	ENSP00000317790:D1162E	ENSP00000317790:D1162E	D	-	3	2	SPTBN5	39956831	0.460000	0.25776	0.998000	0.56505	0.313000	0.28021	0.008000	0.13197	0.238000	0.21222	-1.157000	0.01802	GAC		0.627	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		4	15	0	0	0	0.014758	0	4	15				
ATP13A1	57130	broad.mit.edu	37	19	19758234	19758234	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr19:19758234G>A	ENST00000357324.6	-	21	2923	c.2897C>T	c.(2896-2898)tCc>tTc	p.S966F	ATP13A1_ENST00000291503.5_Missense_Mutation_p.S848F	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	966						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GCACTGGATGGATGAGAGCTT	0.642																																					Esophageal Squamous(142;920 1789 9047 14684 24777)	ENST00000357324.6																			0				central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(2896-2898)tCc>tTc		ATPase type 13A1							98.0	84.0	89.0					19																	19758234		2203	4300	6503	SO:0001583	missense	57130				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr19:19758234G>A	AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726		"""ATPases / P-type"""	24215	protein-coding gene	gene with protein product	"""cation transporting ATPase"""		"""ATPase type 13A"""	ATP13A		11347906	Standard	NM_020410		Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.2897C>T	19.37:g.19758234G>A	ENSP00000349877:p.Ser966Phe					ATP13A1_ENST00000291503.5_Missense_Mutation_p.S848F	p.S966F	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN			21	2923	-			966					B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Missense_Mutation	SNP	ENST00000357324.6	37	c.2897C>T	CCDS32970.2	.	.	.	.	.	.	.	.	.	.	G	20.9	4.061658	0.76187	.	.	ENSG00000105726	ENST00000291503;ENST00000357324	T;T	0.34472	1.36;1.36	5.23	5.23	0.72850	.	0.160412	0.64402	D	0.000018	T	0.66056	0.2751	M	0.89478	3.035	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.71414	0.957;0.973	T	0.73591	-0.3934	10	0.87932	D	0	-35.3503	16.3589	0.83246	0.0:0.0:1.0:0.0	.	966;848	Q9HD20;Q9HD20-2	AT131_HUMAN;.	F	848;966	ENSP00000291503:S848F;ENSP00000349877:S966F	ENSP00000291503:S848F	S	-	2	0	ATP13A1	19619234	1.000000	0.71417	0.991000	0.47740	0.698000	0.40448	6.180000	0.71981	2.452000	0.82932	0.650000	0.86243	TCC		0.642	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329005.1	NM_020410		8	27	0	0	0	0.047766	0	8	27				
CCDC82	79780	broad.mit.edu	37	11	96116619	96116619	+	Missense_Mutation	SNP	A	A	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr11:96116619A>C	ENST00000278520.5	-	4	1233	c.805T>G	c.(805-807)Tgc>Ggc	p.C269G	CCDC82_ENST00000542662.1_Missense_Mutation_p.C269G|CCDC82_ENST00000423339.2_Missense_Mutation_p.C269G			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	269										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		CTGCTTGGGCAAGATTCCTTT	0.318																																						ENST00000278520.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19						c.(805-807)Tgc>Ggc		coiled-coil domain containing 82							80.0	75.0	77.0					11																	96116619		2197	4296	6493	SO:0001583	missense	79780						protein binding	g.chr11:96116619A>C	AF245436	CCDS8307.1	11q21	2006-03-09			ENSG00000149231	ENSG00000149231			26282	protein-coding gene	gene with protein product						12477932	Standard	NM_024725		Approved	FLJ23518	uc001pfx.4	Q8N4S0	OTTHUMG00000167678	ENST00000278520.5:c.805T>G	11.37:g.96116619A>C	ENSP00000278520:p.Cys269Gly					CCDC82_ENST00000423339.2_Missense_Mutation_p.C269G|CCDC82_ENST00000542662.1_Missense_Mutation_p.C269G	p.C269G			Q8N4S0	CCD82_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.154)	4	1233	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	269					B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	Missense_Mutation	SNP	ENST00000278520.5	37	c.805T>G	CCDS8307.1	.	.	.	.	.	.	.	.	.	.	A	2.041	-0.420013	0.04734	.	.	ENSG00000149231	ENST00000278520;ENST00000542662;ENST00000423339	T;T;T	0.23754	1.89;1.89;1.89	5.6	4.47	0.54385	.	0.501755	0.21502	N	0.073516	T	0.26919	0.0659	M	0.61703	1.905	0.09310	N	1	B;B	0.29646	0.253;0.099	B;B	0.36244	0.22;0.025	T	0.22800	-1.0206	10	0.17832	T	0.49	-3.9896	8.0948	0.30822	0.9086:0.0:0.0914:0.0	.	269;269	Q8N4S0-2;Q8N4S0	.;CCD82_HUMAN	G	269	ENSP00000278520:C269G;ENSP00000444010:C269G;ENSP00000397156:C269G	ENSP00000278520:C269G	C	-	1	0	CCDC82	95756267	0.149000	0.22717	0.081000	0.20488	0.095000	0.18619	3.248000	0.51430	0.962000	0.38057	0.372000	0.22366	TGC		0.318	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395542.2	NM_024725		5	18	0	0	0	0.021553	0	5	18				
WDR90	197335	broad.mit.edu	37	16	700677	700677	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr16:700677A>G	ENST00000293879.4	+	5	527	c.527A>G	c.(526-528)aAc>aGc	p.N176S	AL022341.3_ENST00000455294.1_RNA|WDR90_ENST00000549091.1_Missense_Mutation_p.N176S			Q96KV7	WDR90_HUMAN	WD repeat domain 90	176										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CTGGTCAGGAACCTGTACACC	0.607																																						ENST00000549091.1																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37						c.(526-528)aAc>aGc		WD repeat domain 90							45.0	52.0	49.0					16																	700677		2057	4203	6260	SO:0001583	missense	197335							g.chr16:700677A>G	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.527A>G	16.37:g.700677A>G	ENSP00000293879:p.Asn176Ser					WDR90_ENST00000293879.4_Missense_Mutation_p.N176S	p.N176S	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN			5	619	+		Hepatocellular(780;0.0218)	176					Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	c.527A>G	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	A	11.50	1.656592	0.29425	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.40476	1.03;1.03	4.83	1.24	0.21308	.	0.071433	0.52532	N	0.000066	T	0.36608	0.0973	L	0.48986	1.54	0.80722	D	1	P;P;P	0.47302	0.893;0.568;0.75	P;B;B	0.45037	0.467;0.334;0.432	T	0.05903	-1.0857	10	0.40728	T	0.16	.	7.7982	0.29160	0.7419:0.0:0.2581:0.0	.	176;176;176	Q96KV7;C9JMK1;Q96KV7-3	WDR90_HUMAN;.;.	S	176	ENSP00000448122:N176S;ENSP00000293879:N176S	ENSP00000293879:N176S	N	+	2	0	WDR90	640678	1.000000	0.71417	0.622000	0.29159	0.863000	0.49368	1.740000	0.38228	-0.050000	0.13356	0.379000	0.24179	AAC		0.607	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		8	47	0	0	0	0.047766	0	8	47				
TENM3	55714	broad.mit.edu	37	4	183714515	183714515	+	Silent	SNP	C	C	T	rs369647107		TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr4:183714515C>T	ENST00000511685.1	+	26	6813	c.6690C>T	c.(6688-6690)gaC>gaT	p.D2230D	TENM3_ENST00000406950.2_Silent_p.D2230D			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2230					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										ACCGTTATGACGGCCTGGGAA	0.458																																						ENST00000511685.1																			0											c.(6688-6690)gaC>gaT		teneurin transmembrane protein 3		C		1,3787		0,1,1893	80.0	82.0	81.0		6690	-8.1	0.0	4		81	0,8246		0,0,4123	no	coding-synonymous	ODZ3	NM_001080477.1		0,1,6016	TT,TC,CC		0.0,0.0264,0.0083		2230/2700	183714515	1,12033	1894	4123	6017	SO:0001819	synonymous_variant	55714							g.chr4:183714515C>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.6690C>T	4.37:g.183714515C>T						TENM3_ENST00000406950.2_Silent_p.D2230D	p.D2230D							26	6813	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	37	c.6690C>T	CCDS47165.1																																																																																				0.458	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			5	62	0	0	0	0.014758	0	5	62				
VWA3B	200403	broad.mit.edu	37	2	98750303	98750303	+	Missense_Mutation	SNP	G	G	A	rs200133181	byFrequency	TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr2:98750303G>A	ENST00000477737.1	+	7	1093	c.889G>A	c.(889-891)Gag>Aag	p.E297K	VWA3B_ENST00000451075.2_Missense_Mutation_p.E147K|VWA3B_ENST00000435344.1_Missense_Mutation_p.E297K	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	297										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						CGCATTTGCCGAGAGAACAGA	0.478													G|||	13	0.00259585	0.0	0.0	5008	,	,		23738	0.0		0.0	False		,,,				2504	0.0133					ENST00000477737.1																			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.(889-891)Gag>Aag		von Willebrand factor A domain containing 3B							287.0	272.0	276.0					2																	98750303		2073	4224	6297	SO:0001583	missense	200403							g.chr2:98750303G>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.889G>A	2.37:g.98750303G>A	ENSP00000417955:p.Glu297Lys					VWA3B_ENST00000451075.2_Missense_Mutation_p.E147K|VWA3B_ENST00000435344.1_Missense_Mutation_p.E297K	p.E297K	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN			7	1093	+			297					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.889G>A	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.701576	0.30142	.	.	ENSG00000168658	ENST00000435344;ENST00000477737;ENST00000451075	T;T;T	0.14893	7.5;7.5;2.47	5.66	4.77	0.60923	.	0.090990	0.47093	D	0.000251	T	0.28764	0.0713	L	0.56769	1.78	0.24318	N	0.995055	D;P;D	0.67145	0.994;0.938;0.996	P;B;P	0.54312	0.484;0.098;0.748	T	0.11036	-1.0604	10	0.29301	T	0.29	.	13.8041	0.63220	0.0:0.1538:0.8462:0.0	.	147;297;297	B7Z7Q7;Q502W6;Q502W6-8	.;VWA3B_HUMAN;.	K	297;297;147	ENSP00000401959:E297K;ENSP00000417955:E297K;ENSP00000389463:E147K	ENSP00000411168:E297K	E	+	1	0	VWA3B	98116735	1.000000	0.71417	0.955000	0.39395	0.069000	0.16628	3.997000	0.57016	1.367000	0.46095	0.655000	0.94253	GAG		0.478	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		8	300	0	0	0	0.058154	0	8	300				
PAN3	255967	broad.mit.edu	37	13	28750672	28750672	+	Missense_Mutation	SNP	A	A	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr13:28750672A>T	ENST00000380958.3	+	3	747	c.595A>T	c.(595-597)Agt>Tgt	p.S199C	PAN3_ENST00000399613.1_Missense_Mutation_p.S53C	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		TCTAAATGACAGTGCCAAGCC	0.343																																						ENST00000399613.1																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(157-159)Agt>Tgt		PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)							119.0	115.0	117.0					13																	28750672		2203	4300	6503	SO:0001583	missense	255967				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity	g.chr13:28750672A>T	AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"""PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.595A>T	13.37:g.28750672A>T	ENSP00000370345:p.Ser199Cys					PAN3_ENST00000380958.3_Missense_Mutation_p.S199C	p.S53C			Q58A45	PAN3_HUMAN	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)	3	220	+	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	199			Interaction with polyadenylate-binding protein.			Missense_Mutation	SNP	ENST00000380958.3	37	c.157A>T	CCDS9329.2	.	.	.	.	.	.	.	.	.	.	A	14.54	2.565603	0.45694	.	.	ENSG00000152520	ENST00000380958;ENST00000399613	T;T	0.54279	0.58;0.68	5.49	5.49	0.81192	.	0.165126	0.64402	D	0.000002	T	0.40862	0.1134	N	0.19112	0.55	0.80722	D	1	B;B;B	0.18461	0.028;0.002;0.004	B;B;B	0.14578	0.011;0.003;0.002	T	0.29366	-1.0014	10	0.66056	D	0.02	-17.9835	15.5833	0.76462	1.0:0.0:0.0:0.0	.	199;199;199	Q58A45-4;Q58A45;Q58A45-3	.;PAN3_HUMAN;.	C	199;53	ENSP00000370345:S199C;ENSP00000382522:S53C	ENSP00000370345:S199C	S	+	1	0	PAN3	27648672	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.516000	0.60496	2.088000	0.63022	0.533000	0.62120	AGT		0.343	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	NM_175854		7	104	0	0	0	0.029380	0	7	104				
PIK3R6	146850	broad.mit.edu	37	17	8732128	8732128	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr17:8732128C>T	ENST00000311434.9	-	11	1308	c.1069G>A	c.(1069-1071)Ggc>Agc	p.G357S	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	357					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)										TCAGGGCTGCCGGGTGCAGGC	0.682																																						ENST00000311434.9																			0											c.(1069-1071)Ggc>Agc		phosphoinositide-3-kinase, regulatory subunit 6							16.0	18.0	17.0					17																	8732128		1944	4117	6061	SO:0001583	missense	146850				platelet activation	cytosol		g.chr17:8732128C>T	AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"""chromosome 17 open reading frame 38"""	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000311434.9:c.1069G>A	17.37:g.8732128C>T	ENSP00000475670:p.Gly357Ser					PIK3R6_ENST00000434064.2_5'UTR	p.G357S	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN			11	1308	-			357					Q658R3	Missense_Mutation	SNP	ENST00000311434.9	37	c.1069G>A																																																																																					0.682	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001010855		3	32	0	0	0	0.115264	0	3	32				
EYA2	2139	broad.mit.edu	37	20	45618709	45618709	+	Silent	SNP	G	G	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr20:45618709G>C	ENST00000327619.5	+	2	434	c.60G>C	c.(58-60)ctG>ctC	p.L20L	EYA2_ENST00000357410.3_Silent_p.L20L|EYA2_ENST00000317304.6_Silent_p.L20L|EYA2_ENST00000497428.1_3'UTR	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	20					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				TGGATAAACTGAAGTTTAACC	0.453																																					Pancreas(120;56 1725 18501 25218 43520)	ENST00000327619.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(58-60)ctG>ctC		eyes absent homolog 2 (Drosophila)							152.0	136.0	142.0					20																	45618709		2203	4300	6503	SO:0001819	synonymous_variant	2139				DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity	g.chr20:45618709G>C		CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3520	protein-coding gene	gene with protein product		601654	"""eyes absent (Drosophila) homolog 2"", ""eyes absent homolog 2 (Drosophila)"""			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.60G>C	20.37:g.45618709G>C						EYA2_ENST00000357410.3_Silent_p.L20L|EYA2_ENST00000317304.6_Silent_p.L20L|EYA2_ENST00000497428.1_3'UTR	p.L20L	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN			2	434	+		Myeloproliferative disorder(115;0.0241)	20					Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Silent	SNP	ENST00000327619.5	37	c.60G>C	CCDS13403.1																																																																																				0.453	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2	NM_005244		12	54	0	0	0	0.105934	0	12	54				
SCN8A	6334	broad.mit.edu	37	12	52100421	52100421	+	Missense_Mutation	SNP	G	G	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr12:52100421G>C	ENST00000354534.6	+	11	1735	c.1557G>C	c.(1555-1557)gaG>gaC	p.E519D	SCN8A_ENST00000550891.1_Missense_Mutation_p.E519D|SCN8A_ENST00000545061.1_Missense_Mutation_p.E519D	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	519					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	TTAAGTCAGAGTCAGAAGATG	0.438																																						ENST00000354534.5																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(1555-1557)gaG>gaC		sodium channel, voltage gated, type VIII, alpha subunit	Lamotrigine(DB00555)						49.0	50.0	49.0					12																	52100421		1926	4135	6061	SO:0001583	missense	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52100421G>C	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.1557G>C	12.37:g.52100421G>C	ENSP00000346534:p.Glu519Asp					SCN8A_ENST00000550891.1_Missense_Mutation_p.E519D|SCN8A_ENST00000545061.1_Missense_Mutation_p.E519D	p.E519D	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	11	1735	+			519					B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.1557G>C	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.651136	0.47362	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961;ENST00000551216	D;D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98;-2.98	4.41	2.57	0.30868	Domain of unknown function DUF3451 (1);	0.423577	0.23908	N	0.043366	D	0.92737	0.7691	L	0.52905	1.665	0.51012	D	0.9999	D;P;P;B	0.69078	0.997;0.729;0.901;0.108	D;B;P;B	0.66196	0.942;0.21;0.475;0.191	D	0.88940	0.3379	10	0.22109	T	0.4	.	9.2811	0.37729	0.3035:0.0:0.6965:0.0	.	519;519;519;519	F8VWM7;Q9UQD0-3;F8VRN5;Q9UQD0	.;.;.;SCN8A_HUMAN	D	519;519;519;519;432;317	ENSP00000448415:E519D;ENSP00000346534:E519D;ENSP00000440360:E519D;ENSP00000347255:E519D;ENSP00000447567:E317D	ENSP00000346534:E519D	E	+	3	2	SCN8A	50386688	0.994000	0.37717	1.000000	0.80357	0.993000	0.82548	0.211000	0.17474	0.603000	0.29913	0.462000	0.41574	GAG		0.438	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		4	12	0	0	0	0.014758	0	4	12				
MYOCD	93649	broad.mit.edu	37	17	12642618	12642618	+	Silent	SNP	C	C	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr17:12642618C>T	ENST00000343344.4	+	7	690	c.690C>T	c.(688-690)acC>acT	p.T230T	MYOCD_ENST00000395988.1_3'UTR|MYOCD_ENST00000425538.1_Silent_p.T230T|AC005358.1_ENST00000609971.1_Silent_p.T134T			Q8IZQ8	MYCD_HUMAN	myocardin	230					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CCCCCAGCACCCCCATAGCCG	0.592																																						ENST00000425538.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70						c.(688-690)acC>acT		myocardin							52.0	48.0	49.0					17																	12642618		2203	4300	6503	SO:0001819	synonymous_variant	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12642618C>T	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.690C>T	17.37:g.12642618C>T						MYOCD_ENST00000343344.4_Silent_p.T230T|MYOCD_ENST00000395988.1_Silent_p.T134T	p.T230T	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	7	890	+			230					Q5UBU5|Q8N7Q1	Silent	SNP	ENST00000343344.4	37	c.690C>T	CCDS11163.1																																																																																				0.592	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		13	56	0	0	0	0.105934	0	13	56				
ZNF141	7700	broad.mit.edu	37	4	367638	367638	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr4:367638A>G	ENST00000240499.7	+	4	1561	c.1412A>G	c.(1411-1413)aAa>aGa	p.K471R	ZNF141_ENST00000512994.1_Intron|ZNF141_ENST00000505939.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	471					anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						AAACATAAGAAAATTCATACT	0.323																																						ENST00000240499.7																			0				breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						c.(1411-1413)aAa>aGa		zinc finger protein 141							50.0	57.0	54.0					4																	367638		2195	4290	6485	SO:0001583	missense	7700				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr4:367638A>G	L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"""Zinc fingers, C2H2-type"", ""-"""	12926	protein-coding gene	gene with protein product		194648	"""zinc finger protein 141 (clone pHZ-44)"""	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.1412A>G	4.37:g.367638A>G	ENSP00000240499:p.Lys471Arg					ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	p.K471R	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN			4	1561	+			471					Q6DK07	Missense_Mutation	SNP	ENST00000240499.7	37	c.1412A>G	CCDS33931.1	.	.	.	.	.	.	.	.	.	.	A	0.036	-1.305844	0.01353	.	.	ENSG00000131127	ENST00000240499	T	0.35973	1.28	1.24	-0.92	0.10475	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09247	0.0228	N	0.01076	-1.035	0.19300	N	0.999977	B	0.02656	0.0	B	0.04013	0.001	T	0.30149	-0.9988	8	.	.	.	.	2.1737	0.03856	0.272:0.0:0.4424:0.2856	.	471	Q15928	ZN141_HUMAN	R	471	ENSP00000240499:K471R	.	K	+	2	0	ZNF141	357638	0.000000	0.05858	0.055000	0.19348	0.443000	0.32047	0.072000	0.14617	-0.274000	0.09232	0.260000	0.18958	AAA		0.323	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1	NM_003441		24	94	0	0	0	0.083992	0	24	94				
MED12	9968	broad.mit.edu	37	X	70345894	70345894	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chrX:70345894G>A	ENST00000374080.3	+	18	2463	c.2431G>A	c.(2431-2433)Gat>Aat	p.D811N	MED12_ENST00000333646.6_Missense_Mutation_p.D811N|MED12_ENST00000374102.1_Missense_Mutation_p.D811N			Q93074	MED12_HUMAN	mediator complex subunit 12	811					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					AGGTGGGGAGGATGGGCAGAA	0.542			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"""M, S"""	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(2431-2433)Gat>Aat		mediator complex subunit 12							126.0	116.0	119.0					X																	70345894		1953	4118	6071	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70345894G>A	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.2431G>A	X.37:g.70345894G>A	ENSP00000363193:p.Asp811Asn					MED12_ENST00000374102.1_Missense_Mutation_p.D811N|MED12_ENST00000374080.3_Missense_Mutation_p.D811N	p.D811N	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			18	2630	+	Renal(35;0.156)		811					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.2431G>A	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	15.70	2.910114	0.52439	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24	4.61	4.61	0.57282	.	0.056864	0.64402	D	0.000001	T	0.63698	0.2533	N	0.08118	0	0.50467	D	0.999876	B;B;B;B	0.27068	0.082;0.167;0.137;0.084	B;B;B;B	0.31614	0.133;0.023;0.104;0.063	T	0.63967	-0.6517	10	0.42905	T	0.14	-11.8347	16.8049	0.85623	0.0:0.0:1.0:0.0	.	811;658;811;811	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	N	811;811;811;811;779	ENSP00000333125:D811N;ENSP00000363215:D811N;ENSP00000363193:D811N;ENSP00000414203:D779N	ENSP00000333125:D811N	D	+	1	0	MED12	70262619	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.978000	0.93450	2.142000	0.66516	0.462000	0.41574	GAT		0.542	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		7	195	0	0	0	0.047766	0	7	195				
FAM86DP	692099	broad.mit.edu	37	3	75475600	75475600	+	RNA	SNP	C	C	G			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr3:75475600C>G	ENST00000459803.1	-	0	929					NR_024241.1				family with sequence similarity 86, member D, pseudogene																		TGGGGGCTCACCTAGCTCGGT	0.642																																						ENST00000459803.1																			0																																																			692099							g.chr3:75475600C>G	BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75475600C>G								NR_024241.1						0	929	-									RNA	SNP	ENST00000459803.1	37																																																																																						0.642	FAM86DP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352425.1	NR_024241		3	80	0	0	0	0.009096	0	3	80				
ASXL2	55252	broad.mit.edu	37	2	25972716	25972716	+	Missense_Mutation	SNP	G	G	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr2:25972716G>C	ENST00000435504.4	-	12	2002	c.1709C>G	c.(1708-1710)tCt>tGt	p.S570C	ASXL2_ENST00000272341.4_Missense_Mutation_p.S310C|ASXL2_ENST00000336112.4_Missense_Mutation_p.S542C|ASXL2_ENST00000404843.1_Missense_Mutation_p.S310C			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	570					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTGAGGGAAGACTTCCTCTT	0.547																																						ENST00000435504.4																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33						c.(1708-1710)tCt>tGt		additional sex combs like 2 (Drosophila)							96.0	95.0	95.0					2																	25972716		1948	4144	6092	SO:0001583	missense	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:25972716G>C			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.1709C>G	2.37:g.25972716G>C	ENSP00000391447:p.Ser570Cys					ASXL2_ENST00000336112.4_Missense_Mutation_p.S542C|ASXL2_ENST00000404843.1_Missense_Mutation_p.S310C|ASXL2_ENST00000272341.4_Missense_Mutation_p.S310C	p.S570C			Q76L83	ASXL2_HUMAN			12	2002	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		570					Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	ENST00000435504.4	37	c.1709C>G		.	.	.	.	.	.	.	.	.	.	G	13.66	2.304244	0.40795	.	.	ENSG00000143970	ENST00000435504;ENST00000336112;ENST00000404843;ENST00000272341	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.94	5.05	0.67936	.	0.424253	0.23187	N	0.050951	T	0.46908	0.1417	L	0.59436	1.845	0.35207	D	0.774766	P;P	0.50710	0.91;0.938	P;P	0.49301	0.606;0.541	T	0.62613	-0.6817	10	0.72032	D	0.01	-0.6209	9.3449	0.38102	0.0756:0.1463:0.7781:0.0	.	310;570	Q76L83-2;Q76L83	.;ASXL2_HUMAN	C	570;542;310;310	ENSP00000391447:S570C;ENSP00000337250:S542C;ENSP00000383920:S310C;ENSP00000272341:S310C	ENSP00000272341:S310C	S	-	2	0	ASXL2	25826220	0.999000	0.42202	0.990000	0.47175	0.957000	0.61999	3.282000	0.51693	1.482000	0.48325	0.650000	0.86243	TCT		0.547	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		17	89	0	0	0	0.049695	0	17	89				
DFFB	1677	broad.mit.edu	37	1	3789056	3789056	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr1:3789056C>A	ENST00000378209.3	+	6	1025	c.702C>A	c.(700-702)agC>agA	p.S234R	DFFB_ENST00000338895.3_Missense_Mutation_p.S234R	NM_004402.2	NP_004393.1	O76075	DFFB_HUMAN	DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)	234					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		ACATGGACAGCTGCTTATCAA	0.502																																						ENST00000378209.3																			0				endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(700-702)agC>agA		DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)							109.0	102.0	104.0					1																	3789056		2203	4300	6503	SO:0001583	missense	1677				apoptotic chromosome condensation|DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction	cytosol|nucleoplasm	deoxyribonuclease activity|enzyme binding	g.chr1:3789056C>A		CCDS52.1, CCDS72693.1	1p36.3	2014-03-06	2002-08-29		ENSG00000169598	ENSG00000169598			2773	protein-coding gene	gene with protein product		601883				9108473, 9560346	Standard	NM_004402		Approved	CAD, CPAN, DFF-40, DFF40	uc001alc.3	O76075	OTTHUMG00000003525	ENST00000378209.3:c.702C>A	1.37:g.3789056C>A	ENSP00000367454:p.Ser234Arg					DFFB_ENST00000338895.3_Missense_Mutation_p.S234R	p.S234R	NM_004402.2	NP_004393.1	O76075	DFFB_HUMAN		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)	6	1025	+	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)	234					O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000378209.3	37	c.702C>A	CCDS52.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.575613	0.45902	.	.	ENSG00000169598	ENST00000378209;ENST00000338895;ENST00000339350;ENST00000378206	T;T	0.30981	1.51;1.51	4.39	3.22	0.36961	Apoptosis, DNA fragmentation factor 40kDa (1);	1.724420	0.02557	N	0.096355	T	0.36496	0.0969	L	0.41710	1.295	0.80722	D	1	P;P;P	0.49090	0.919;0.893;0.919	P;P;B	0.48141	0.568;0.46;0.392	T	0.38457	-0.9660	10	0.21014	T	0.42	-8.765	11.9747	0.53085	0.0:0.8927:0.0:0.1073	.	258;170;234	B4DZS0;Q5SR21;O76075	.;.;DFFB_HUMAN	R	234;234;170;170	ENSP00000367454:S234R;ENSP00000339524:S234R	ENSP00000339524:S234R	S	+	3	2	DFFB	3778916	0.518000	0.26234	0.131000	0.22000	0.983000	0.72400	0.823000	0.27366	1.996000	0.58369	0.449000	0.29647	AGC		0.502	DFFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009821.2	NM_001282669		12	34	1	0	3.07112e-06	0.080935	3.45135e-06	12	34				
VHL	7428	broad.mit.edu	37	3	10183734	10183734	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr3:10183734C>A	ENST00000256474.2	+	1	1043	c.203C>A	c.(202-204)tCg>tAg	p.S68*	VHL_ENST00000345392.2_Nonsense_Mutation_p.S68*|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	68			Missing (in VHLD; type I).|S -> W (in pheochromocytoma and VHLD; type II). {ECO:0000269|PubMed:10627136, ECO:0000269|PubMed:12000816}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.S68*(15)|p.N67fs*59(1)|p.A56_R69>G(1)|p.R60fs*35(1)|p.N67_V74del(1)|p.S68L(1)|p.N67fs*64(1)|p.N67fs*63(1)|p.P61fs*61(1)|p.R69fs*63(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TCGGTGAACTCGCGCGAGCCC	0.716		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													ENST00000256474.2		1	yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	"""D, Mis, N, F, S"""	von Hippel-Lindau syndrome gene			"""E, M, O"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""		24	Substitution - Nonsense(15)|Deletion - Frameshift(3)|Complex - frameshift(2)|Deletion - In frame(1)|Insertion - Frameshift(1)|Complex - deletion inframe(1)|Substitution - Missense(1)	p.S68*(15)|p.N67fs*59(1)|p.A56_R69>G(1)|p.R60fs*35(1)|p.N67_V74del(1)|p.S68L(1)|p.N67fs*64(1)|p.N67fs*63(1)|p.P61fs*61(1)|p.R69fs*63(1)	kidney(24)	adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769	GRCh37	CM003058|CM971566	VHL	M		c.(202-204)tCg>tAg		von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase							8.0	11.0	10.0					3																	10183734		2146	4213	6359	SO:0001587	stop_gained	7428	von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	g.chr3:10183734C>A	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.203C>A	3.37:g.10183734C>A	ENSP00000256474:p.Ser68*					VHL_ENST00000345392.2_Nonsense_Mutation_p.S68*	p.S68*	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN		Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)	1	1043	+			68		Missing (in VHLD; type I).|S -> W (in pheochromocytoma and VHLD; type II).			B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	c.203C>A	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	31	5.088584	0.94100	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	.	.	.	5.45	4.53	0.55603	.	0.369470	0.28203	N	0.016215	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.8236	13.5532	0.61745	0.0:0.7597:0.2403:0.0	.	.	.	.	X	68	.	ENSP00000256474:S68X	S	+	2	0	VHL	10158734	0.146000	0.22672	0.981000	0.43875	0.672000	0.39443	0.351000	0.20096	2.567000	0.86603	0.550000	0.68814	TCG		0.716	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		4	7	1	0	0.00909568	0.009096	0.00975718	4	7				
JMJD6	23210	broad.mit.edu	37	17	74716493	74716493	+	Silent	SNP	G	G	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr17:74716493G>A	ENST00000397625.4	-	5	1143	c.1029C>T	c.(1027-1029)tcC>tcT	p.S343S	JMJD6_ENST00000585429.1_Intron|JMJD6_ENST00000445478.2_Silent_p.S343S	NM_015167.2	NP_055982.2	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	343	Ser-rich.				cell surface receptor signaling pathway (GO:0007166)|erythrocyte development (GO:0048821)|heart development (GO:0007507)|histone H3-R2 demethylation (GO:0070078)|histone H4-R3 demethylation (GO:0070079)|kidney development (GO:0001822)|lung development (GO:0030324)|macrophage activation (GO:0042116)|mRNA processing (GO:0006397)|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine (GO:0018395)|recognition of apoptotic cell (GO:0043654)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|RNA splicing (GO:0008380)|sprouting angiogenesis (GO:0002040)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone demethylase activity (H3-R2 specific) (GO:0033746)|histone demethylase activity (H4-R3 specific) (GO:0033749)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)|peptidyl-lysine 5-dioxygenase activity (GO:0070815)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						AAGAGTCGCTGGAGCTGTCGG	0.577																																						ENST00000445478.2																			0				endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						c.(1027-1029)tcC>tcT		jumonji domain containing 6							73.0	87.0	82.0					17																	74716493		2116	4246	6362	SO:0001819	synonymous_variant	23210				mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding	g.chr17:74716493G>A	AB011157	CCDS42383.1, CCDS42384.1	17q25	2007-11-20	2007-02-16	2007-02-16	ENSG00000070495	ENSG00000070495			19355	protein-coding gene	gene with protein product		604914	"""phosphatidylserine receptor"""	PTDSR		11877474	Standard	NM_015167		Approved	PTDSR1, KIAA0585	uc002jsn.1	Q6NYC1	OTTHUMG00000169267	ENST00000397625.4:c.1029C>T	17.37:g.74716493G>A						JMJD6_ENST00000397625.4_Silent_p.S343S|JMJD6_ENST00000585429.1_Intron	p.S343S	NM_001081461.1	NP_001074930.1	Q6NYC1	JMJD6_HUMAN			5	1232	-			343			Ser-rich.		B3KMN8|B4DGX1|Q86VY0|Q8IUM5|Q9Y4E2	Silent	SNP	ENST00000397625.4	37	c.1029C>T	CCDS42384.1																																																																																				0.577	JMJD6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403211.1	NM_015167		25	64	0	0	0	0.091800	0	25	64				
SH3BP2	6452	broad.mit.edu	37	4	2826453	2826453	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr4:2826453G>A	ENST00000356331.5	+	4	614	c.353G>A	c.(352-354)cGc>cAc	p.R118H	SH3BP2_ENST00000503393.2_Missense_Mutation_p.R175H|SH3BP2_ENST00000515183.1_3'UTR|SH3BP2_ENST00000452765.2_Missense_Mutation_p.R118H|SH3BP2_ENST00000442312.2_Missense_Mutation_p.R146H|SH3BP2_ENST00000435136.2_Missense_Mutation_p.R118H|SH3BP2_ENST00000511747.1_Missense_Mutation_p.R118H	NM_003023.4	NP_003014.3	P78314	3BP2_HUMAN	SH3-domain binding protein 2	118	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)		SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		GAGGAGGAGCGCAAGGTGACT	0.632									Cherubism																													ENST00000442312.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20						c.(436-438)cGc>cAc		SH3-domain binding protein 2							62.0	58.0	59.0					4																	2826453		2203	4300	6503	SO:0001583	missense	6452	Cherubism	Familial Cancer Database	Familial Benign Giant-cell Tumor of the Jaw, Familial Multilocular Cystic Disease	signal transduction		SH3 domain binding|SH3/SH2 adaptor activity	g.chr4:2826453G>A	BC022996	CCDS33944.1, CCDS54715.1, CCDS54716.1	4p16.3	2013-02-14				ENSG00000087266		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	10825	protein-coding gene	gene with protein product		602104	"""Cherubism"""			9299232, 11381256	Standard	NM_003023		Approved	RES4-23, CRBM	uc003gfj.4	P78314		ENST00000356331.5:c.353G>A	4.37:g.2826453G>A	ENSP00000348685:p.Arg118His					SH3BP2_ENST00000503393.2_Missense_Mutation_p.R175H|SH3BP2_ENST00000452765.2_Missense_Mutation_p.R118H|SH3BP2_ENST00000435136.2_Missense_Mutation_p.R118H|SH3BP2_ENST00000356331.5_Missense_Mutation_p.R118H|SH3BP2_ENST00000515183.1_3'UTR|SH3BP2_ENST00000511747.1_Missense_Mutation_p.R118H	p.R146H	NM_001145855.1	NP_001139327.1	P78314	3BP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.164)	4	616	+			118					A6NNC2|B2R5R6|B4DT04|D3DVR0|D6R919|O00500|O15373|P78315	Missense_Mutation	SNP	ENST00000356331.5	37	c.437G>A	CCDS33944.1	.	.	.	.	.	.	.	.	.	.	g	22.5	4.297313	0.81025	.	.	ENSG00000087266	ENST00000452765;ENST00000503219;ENST00000504294;ENST00000508385;ENST00000512014;ENST00000513095;ENST00000442312;ENST00000502260;ENST00000435136;ENST00000511747;ENST00000503393;ENST00000356331	T;T;T;T;T;T;T;T;T;T;T;T	0.13901	2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55	4.56	4.56	0.56223	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.051104	0.64402	D	0.000001	T	0.40272	0.1110	M	0.77313	2.365	0.80722	D	1	P;D;D;D	0.89917	0.93;1.0;0.993;0.972	P;D;P;P	0.85130	0.81;0.997;0.609;0.786	T	0.40117	-0.9580	10	0.66056	D	0.02	-21.0204	17.335	0.87277	0.0:0.0:1.0:0.0	.	146;146;175;118	B4DT04;B7Z9B6;D6R919;P78314	.;.;.;3BP2_HUMAN	H	118;118;118;118;118;118;146;118;118;118;175;118	ENSP00000409746:R118H;ENSP00000422796:R118H;ENSP00000423275:R118H;ENSP00000424917:R118H;ENSP00000424105:R118H;ENSP00000423823:R118H;ENSP00000388152:R146H;ENSP00000425537:R118H;ENSP00000403231:R118H;ENSP00000424846:R118H;ENSP00000422168:R175H;ENSP00000348685:R118H	ENSP00000348685:R118H	R	+	2	0	SH3BP2	2796251	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	8.813000	0.91963	2.266000	0.75297	0.645000	0.84053	CGC		0.632	SH3BP2-007	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362406.2	NM_003023		6	47	0	0	0	0.029380	0	6	47				
PHKA1	5255	broad.mit.edu	37	X	71813085	71813085	+	Missense_Mutation	SNP	G	G	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chrX:71813085G>C	ENST00000373542.4	-	29	3271	c.3112C>G	c.(3112-3114)Cct>Gct	p.P1038A	PHKA1_ENST00000373539.3_Missense_Mutation_p.P1055A|PHKA1_ENST00000373545.3_Missense_Mutation_p.P996A|PHKA1_ENST00000339490.3_Missense_Mutation_p.P1025A|PHKA1_ENST00000541944.1_Missense_Mutation_p.P966A	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	1038					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					TATGCACTAGGAAAGGACCCA	0.438																																						ENST00000373545.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(2986-2988)Cct>Gct		phosphorylase kinase, alpha 1 (muscle)							89.0	78.0	82.0					X																	71813085		2203	4300	6503	SO:0001583	missense	5255				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:71813085G>C		CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.3112C>G	X.37:g.71813085G>C	ENSP00000362643:p.Pro1038Ala					PHKA1_ENST00000541944.1_Missense_Mutation_p.P966A|PHKA1_ENST00000373542.4_Missense_Mutation_p.P1038A|PHKA1_ENST00000339490.3_Missense_Mutation_p.P1025A|PHKA1_ENST00000373539.3_Missense_Mutation_p.P1055A	p.P996A			P46020	KPB1_HUMAN			29	3424	-	Renal(35;0.156)		1038					B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	ENST00000373542.4	37	c.2986C>G	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	G	0.116	-1.132493	0.01756	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.91945	-2.94;-2.94;-2.94;-2.94;-2.94	5.05	0.695	0.18070	.	1.148540	0.06357	N	0.711025	D	0.85483	0.5707	L	0.34521	1.04	0.09310	N	1	B;B;B;B	0.17667	0.017;0.0;0.023;0.004	B;B;B;B	0.20577	0.006;0.0;0.03;0.007	T	0.69154	-0.5220	10	0.24483	T	0.36	0.0158	4.1699	0.10324	0.2094:0.0:0.3021:0.4884	.	966;996;1025;1038	B7ZL07;A6NIT2;P46020-2;P46020	.;.;.;KPB1_HUMAN	A	996;1038;966;1025;1055	ENSP00000362646:P996A;ENSP00000362643:P1038A;ENSP00000441251:P966A;ENSP00000342469:P1025A;ENSP00000362640:P1055A	ENSP00000342469:P1025A	P	-	1	0	PHKA1	71729810	0.000000	0.05858	0.105000	0.21289	0.083000	0.17756	-0.214000	0.09292	0.058000	0.16222	-0.199000	0.12753	CCT		0.438	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1			23	78	0	0	0	0.076483	0	23	78				
C11orf63	79864	broad.mit.edu	37	11	122775925	122775925	+	Intron	SNP	T	T	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr11:122775925T>C	ENST00000531316.1	+	2	956				C11orf63_ENST00000227349.2_Intron|C11orf63_ENST00000307257.6_Missense_Mutation_p.F304L			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63						axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		ATTCAAAACCTTTTGGAGCCA	0.428																																						ENST00000307257.6																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(910-912)Ttt>Ctt		chromosome 11 open reading frame 63							132.0	123.0	126.0					11																	122775925		2202	4299	6501	SO:0001627	intron_variant	79864							g.chr11:122775925T>C	BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.864+773T>C	11.37:g.122775925T>C						C11orf63_ENST00000227349.2_Intron|C11orf63_ENST00000531316.1_Intron	p.F304L	NM_199124.1	NP_954575.1	Q6NUN7	CK063_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)	4	1289	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	0					A8K6G0|Q96GB5|Q9H5D6	Missense_Mutation	SNP	ENST00000531316.1	37	c.910T>C	CCDS8438.1	.	.	.	.	.	.	.	.	.	.	T	3.187	-0.166576	0.06461	.	.	ENSG00000109944	ENST00000307257	.	.	.	3.29	2.17	0.27698	.	.	.	.	.	T	0.26702	0.0653	N	0.22421	0.69	0.09310	N	1	B	0.24426	0.103	B	0.22386	0.039	T	0.23619	-1.0183	8	0.87932	D	0	.	5.22	0.15364	0.0:0.1333:0.0:0.8667	.	304	Q6NUN7-2	.	L	304	.	ENSP00000307695:F304L	F	+	1	0	C11orf63	122281135	0.001000	0.12720	0.001000	0.08648	0.250000	0.25880	0.363000	0.20301	0.654000	0.30846	0.528000	0.53228	TTT		0.428	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806		5	107	0	0	0	0.014758	0	5	107				
CAMK1G	57172	broad.mit.edu	37	1	209781277	209781277	+	Splice_Site	SNP	T	T	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr1:209781277T>C	ENST00000009105.1	+	7	879	c.634T>C	c.(634-636)Ttg>Ctg	p.L212L	CAMK1G_ENST00000361322.2_Splice_Site_p.L212L|CAMK1G_ENST00000494990.1_3'UTR			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	212	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		CACCTACATATTGTGAGTAGA	0.577																																					Ovarian(163;530 1939 9680 28669 48710)	ENST00000009105.1																			0				breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20						c.e7+1		calcium/calmodulin-dependent protein kinase IG							110.0	100.0	104.0					1																	209781277		2203	4300	6503	SO:0001630	splice_region_variant	57172					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr1:209781277T>C		CCDS1486.1	1q32.2	2012-09-20			ENSG00000008118	ENSG00000008118			14585	protein-coding gene	gene with protein product		614994				12637513	Standard	NM_020439		Approved	VWS1, CLICKIII, dJ272L16.1	uc001hhd.3	Q96NX5	OTTHUMG00000036361	ENST00000009105.1:c.635+1T>C	1.37:g.209781277T>C						CAMK1G_ENST00000361322.2_Splice_Site_p.L212_splice|CAMK1G_ENST00000494990.1_3'UTR	p.L212_splice			Q96NX5	KCC1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0475)	7	879	+			212			Protein kinase.		Q86UH5|Q9Y3J7	Splice_Site	SNP	ENST00000009105.1	37	c.635_splice	CCDS1486.1																																																																																				0.577	CAMK1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088526.1	NM_020439	Silent	3	82	0	0	0	0.115264	0	3	82				
KIAA1841	84542	broad.mit.edu	37	2	61308620	61308620	+	Missense_Mutation	SNP	C	C	T	rs141315892		TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr2:61308620C>T	ENST00000402291.1	+	7	945	c.704C>T	c.(703-705)tCg>tTg	p.S235L	KIAA1841_ENST00000356719.2_Missense_Mutation_p.S235L|KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000453873.1_Missense_Mutation_p.S235L|KIAA1841_ENST00000295031.5_Missense_Mutation_p.S235L	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	235										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			CTTATTTCTTCGGAGTTTTTA	0.313																																						ENST00000402291.1																			0				breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25						c.(703-705)tCg>tTg		KIAA1841		C	LEU/SER,LEU/SER	0,4338		0,0,2169	69.0	84.0	79.0		704,704	5.7	1.0	2	dbSNP_134	79	1,8567	1.2+/-3.3	0,1,4283	no	missense,missense	KIAA1841	NM_001129993.1,NM_032506.2	145,145	0,1,6452	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging,probably-damaging	235/719,235/708	61308620	1,12905	2169	4284	6453	SO:0001583	missense	84542							g.chr2:61308620C>T	BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.704C>T	2.37:g.61308620C>T	ENSP00000385579:p.Ser235Leu					KIAA1841_ENST00000356719.2_Missense_Mutation_p.S235L|KIAA1841_ENST00000295031.5_Missense_Mutation_p.S235L|KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000453873.1_Missense_Mutation_p.S235L	p.S235L	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	Epithelial(17;0.193)		7	945	+			235					Q49AF0|Q6ZND0|Q96JI6	Missense_Mutation	SNP	ENST00000402291.1	37	c.704C>T	CCDS46296.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.736836	0.89482	0.0	1.17E-4	ENSG00000162929	ENST00000402291;ENST00000295031;ENST00000356719;ENST00000453873	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.59059	0.2166	M	0.84846	2.72	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.63319	-0.6664	10	0.87932	D	0	-12.3439	20.0965	0.97849	0.0:1.0:0.0:0.0	.	235;235;235	Q6NSI8-2;Q6NSI8;Q6NSI8-4	.;K1841_HUMAN;.	L	235	ENSP00000385579:S235L;ENSP00000295031:S235L;ENSP00000349154:S235L;ENSP00000416795:S235L	ENSP00000295031:S235L	S	+	2	0	KIAA1841	61162124	1.000000	0.71417	0.993000	0.49108	0.536000	0.34869	7.394000	0.79862	2.824000	0.97209	0.655000	0.94253	TCG		0.313	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325477.1	NM_032506		4	128	0	0	0	0.021553	0	4	128				
NEUROD4	58158	broad.mit.edu	37	12	55421030	55421030	+	Silent	SNP	G	G	C	rs569905025		TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr12:55421030G>C	ENST00000242994.3	+	2	1185	c.807G>C	c.(805-807)ggG>ggC	p.G269G		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	269					amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						AGCAAGATGGGTCTCCTGACC	0.522																																						ENST00000242994.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(805-807)ggG>ggC		neuronal differentiation 4							152.0	146.0	148.0					12																	55421030		2203	4300	6503	SO:0001819	synonymous_variant	58158				amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr12:55421030G>C	AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"""Basic helix-loop-helix proteins"""	13802	protein-coding gene	gene with protein product		611635	"""neurogenic differentiation 4"""				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.807G>C	12.37:g.55421030G>C							p.G269G	NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN			2	1185	+			269					B2RAC9	Silent	SNP	ENST00000242994.3	37	c.807G>C	CCDS8886.1																																																																																				0.522	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406104.1			45	194	0	0	0	0.124865	0	45	194				
PBRM1	55193	broad.mit.edu	37	3	52613209	52613209	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr3:52613209C>A	ENST00000296302.7	-	21	3395	c.3394G>T	c.(3394-3396)Gaa>Taa	p.E1132*	PBRM1_ENST00000409767.1_Nonsense_Mutation_p.E1147*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.E1107*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.E1107*|SMIM4_ENST00000476842.1_3'UTR|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.E1132*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.E1132*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.E1100*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.E1147*			Q86U86	PB1_HUMAN	polybromo 1	1132					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GGGACATCTTCTTTTTCCTGT	0.408			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		0				breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(3298-3300)Gaa>Taa		polybromo 1							117.0	108.0	111.0					3																	52613209		2203	4300	6503	SO:0001587	stop_gained	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52613209C>A	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3394G>T	3.37:g.52613209C>A	ENSP00000296302:p.Glu1132*					PBRM1_ENST00000409767.1_Nonsense_Mutation_p.E1147*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.E1147*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.E1132*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.E1132*|SMIM4_ENST00000476842.1_3'UTR|PBRM1_ENST00000296302.7_Nonsense_Mutation_p.E1132*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.E1107*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.E1107*	p.E1100*			Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	20	3300	-			1132					A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37	c.3298G>T		.	.	.	.	.	.	.	.	.	.	C	40	8.371756	0.98781	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	20.089	0.97809	0.0:1.0:0.0:0.0	.	.	.	.	X	1100;1107;1132;1132;1132;1107;1147;1147;1131	.	ENSP00000296302:E1132X	E	-	1	0	PBRM1	52588249	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.760000	0.85248	2.765000	0.95021	0.591000	0.81541	GAA		0.408	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		30	58	1	0	5.6714e-07	0.045705	6.49733e-07	30	58				
ZNF511	118472	broad.mit.edu	37	10	135123289	135123289	+	Silent	SNP	G	G	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr10:135123289G>A	ENST00000359035.3	+	3	240	c.237G>A	c.(235-237)gcG>gcA	p.A79A	TUBGCP2_ENST00000417178.2_5'Flank|TUBGCP2_ENST00000470829.1_5'Flank|ZNF511_ENST00000463816.2_Intron|ZNF511_ENST00000361518.5_Silent_p.A79A|TUBGCP2_ENST00000368563.2_5'Flank|ZNF511_ENST00000368554.4_Silent_p.A14A			Q8NB15	ZN511_HUMAN	zinc finger protein 511	79					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		GGGTGCCCGCGTTTGCCTGCC	0.587																																						ENST00000359035.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						c.(235-237)gcG>gcA		zinc finger protein 511							73.0	63.0	67.0					10																	135123289		2203	4300	6503	SO:0001819	synonymous_variant	118472				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:135123289G>A	AK091711	CCDS7677.1	10q26.3	2010-04-12			ENSG00000198546	ENSG00000198546		"""Zinc fingers, C2H2-type"""	28445	protein-coding gene	gene with protein product						12477932	Standard	NM_145806		Approved	MGC30006	uc001lmj.1	Q8NB15	OTTHUMG00000019317	ENST00000359035.3:c.237G>A	10.37:g.135123289G>A						ZNF511_ENST00000463816.2_Intron|ZNF511_ENST00000361518.5_Silent_p.A79A|ZNF511_ENST00000368554.4_Silent_p.A14A	p.A79A			Q8NB15	ZN511_HUMAN		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)	3	240	+		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	79					A8K8L5|Q8WUP1|Q96BV2	Silent	SNP	ENST00000359035.3	37	c.237G>A																																																																																					0.587	ZNF511-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000051143.1	NM_145806		22	44	0	0	0	0.076483	0	22	44				
G6PC3	92579	broad.mit.edu	37	17	42148528	42148528	+	Silent	SNP	G	G	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr17:42148528G>A	ENST00000269097.4	+	1	426	c.195G>A	c.(193-195)gaG>gaA	p.E65E		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3	65					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucose-6-phosphatase activity (GO:0004346)			endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TCATCACCGAGTGGCTCAACC	0.607																																						ENST00000269097.4																			0				endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11						c.(193-195)gaG>gaA		glucose 6 phosphatase, catalytic, 3							62.0	54.0	57.0					17																	42148528		2203	4300	6503	SO:0001819	synonymous_variant	92579				gluconeogenesis|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity	g.chr17:42148528G>A	BC021574	CCDS11476.1	17q21.31	2014-09-17				ENSG00000141349			24861	protein-coding gene	gene with protein product		611045				12370122, 12965222	Standard	NM_138387		Approved	UGRP	uc002iex.3	Q9BUM1		ENST00000269097.4:c.195G>A	17.37:g.42148528G>A							p.E65E	NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	1	426	+		Breast(137;0.00637)|Prostate(33;0.0313)	65					Q8WU15	Silent	SNP	ENST00000269097.4	37	c.195G>A	CCDS11476.1																																																																																				0.607	G6PC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457675.1	NM_138387		7	32	0	0	0	0.029380	0	7	32				
FLG	2312	broad.mit.edu	37	1	152277450	152277450	+	Silent	SNP	G	G	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr1:152277450G>T	ENST00000368799.1	-	3	9947	c.9912C>A	c.(9910-9912)tcC>tcA	p.S3304S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3304	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGGTGGCGGGATCCGTGTC	0.567									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(9910-9912)tcC>tcA		filaggrin							381.0	374.0	376.0					1																	152277450		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152277450G>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.9912C>A	1.37:g.152277450G>T						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.S3304S	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	9947	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3304			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.9912C>A	CCDS30860.1																																																																																				0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		135	474	1	0	5.08508e-67	0.139131	6.061e-67	135	474				
LCA5L	150082	broad.mit.edu	37	21	40795155	40795155	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr21:40795155T>C	ENST00000358268.2	-	5	1112	c.584A>G	c.(583-585)aAt>aGt	p.N195S	LCA5L_ENST00000485895.2_Missense_Mutation_p.N195S|LCA5L_ENST00000288350.3_Missense_Mutation_p.N195S|LCA5L_ENST00000380671.2_Missense_Mutation_p.N195S			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	195										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				TTGAGGTAGATTATTTTGTGA	0.318																																						ENST00000358268.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24						c.(583-585)aAt>aGt		Leber congenital amaurosis 5-like							93.0	89.0	90.0					21																	40795155		2203	4299	6502	SO:0001583	missense	150082							g.chr21:40795155T>C	AF121781	CCDS13665.1	21q22.2	2007-12-18	2007-12-18	2007-12-18	ENSG00000157578	ENSG00000157578			1255	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 13"""	C21orf13			Standard	XM_005260926		Approved	MGC33295	uc002yxu.3	O95447	OTTHUMG00000066280	ENST00000358268.2:c.584A>G	21.37:g.40795155T>C	ENSP00000351008:p.Asn195Ser					LCA5L_ENST00000380671.2_Missense_Mutation_p.N195S|LCA5L_ENST00000288350.3_Missense_Mutation_p.N195S|LCA5L_ENST00000485895.2_Missense_Mutation_p.N195S	p.N195S			O95447	LCA5L_HUMAN			5	1112	-		Prostate(19;1.2e-06)	195					D3DSI0|Q3ZCT0	Missense_Mutation	SNP	ENST00000358268.2	37	c.584A>G	CCDS13665.1	.	.	.	.	.	.	.	.	.	.	T	17.39	3.376442	0.61735	.	.	ENSG00000157578	ENST00000288350;ENST00000380671;ENST00000358268	T;T;T	0.76839	-1.05;-1.05;-1.05	4.95	4.95	0.65309	.	0.321794	0.29791	N	0.011199	D	0.83594	0.5288	M	0.61703	1.905	0.25027	N	0.991293	D	0.76494	0.999	D	0.71414	0.973	T	0.74432	-0.3667	10	0.23302	T	0.38	-35.9396	11.3409	0.49533	0.1357:0.0:0.0:0.8643	.	195	O95447	LCA5L_HUMAN	S	195	ENSP00000288350:N195S;ENSP00000370046:N195S;ENSP00000351008:N195S	ENSP00000288350:N195S	N	-	2	0	LCA5L	39717025	0.613000	0.27009	0.999000	0.59377	0.975000	0.68041	3.079000	0.50104	1.980000	0.57719	0.533000	0.62120	AAT		0.318	LCA5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141807.2	NM_152505		3	67	0	0	0	0.115264	0	3	67				
RHPN2	85415	broad.mit.edu	37	19	33471138	33471138	+	Missense_Mutation	SNP	C	C	G	rs147967421		TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr19:33471138C>G	ENST00000254260.3	-	15	1860	c.1825G>C	c.(1825-1827)Gtg>Ctg	p.V609L	RHPN2_ENST00000400226.4_Missense_Mutation_p.V458L|RHPN2_ENST00000588683.1_5'UTR	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	609					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					TGCATTCCCACGGAGTATGTG	0.413																																						ENST00000254260.3																			0				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44						c.(1825-1827)Gtg>Ctg		rhophilin, Rho GTPase binding protein 2							70.0	64.0	66.0					19																	33471138		2203	4296	6499	SO:0001583	missense	85415				signal transduction	perinuclear region of cytoplasm	protein binding	g.chr19:33471138C>G	AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.1825G>C	19.37:g.33471138C>G	ENSP00000254260:p.Val609Leu					RHPN2_ENST00000588683.1_5'UTR|RHPN2_ENST00000400226.4_Missense_Mutation_p.V458L	p.V609L	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN			15	1860	-	Esophageal squamous(110;0.137)		609					B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Missense_Mutation	SNP	ENST00000254260.3	37	c.1825G>C	CCDS12427.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.734786	0.48939	.	.	ENSG00000131941	ENST00000254260;ENST00000544458;ENST00000400226	T;T	0.43294	1.94;0.95	4.94	4.94	0.65067	.	0.169358	0.51477	D	0.000086	T	0.33585	0.0868	L	0.42245	1.32	0.40333	D	0.97894	B	0.17465	0.022	B	0.14578	0.011	T	0.13045	-1.0524	10	0.12430	T	0.62	-7.9469	13.9038	0.63821	0.0:0.9234:0.0:0.0766	.	609	Q8IUC4	RHPN2_HUMAN	L	609;339;458	ENSP00000254260:V609L;ENSP00000402244:V458L	ENSP00000254260:V609L	V	-	1	0	RHPN2	38162978	1.000000	0.71417	0.979000	0.43373	0.781000	0.44180	5.735000	0.68587	2.446000	0.82766	0.579000	0.79373	GTG		0.413	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2	NM_033103		16	86	0	0	0	0.038395	0	16	86				
ACBD7	414149	broad.mit.edu	37	10	15120706	15120706	+	Silent	SNP	T	T	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr10:15120706T>A	ENST00000356189.5	-	3	224	c.177A>T	c.(175-177)gcA>gcT	p.A59A	ACBD7_ENST00000496890.1_5'UTR	NM_001039844.2	NP_001034933.1	Q8N6N7	ACBD7_HUMAN	acyl-CoA binding domain containing 7	59	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.						fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			endometrium(1)|lung(4)|prostate(1)	6						TGAGGTTCCATGCTTCCCATT	0.388																																						ENST00000356189.5																			0				endometrium(1)|lung(4)|prostate(1)	6						c.(175-177)gcA>gcT		acyl-CoA binding domain containing 7							109.0	100.0	103.0					10																	15120706		2203	4300	6503	SO:0001819	synonymous_variant	414149						fatty-acyl-CoA binding	g.chr10:15120706T>A	AK095538	CCDS31153.1	10p13	2010-08-05	2010-04-30		ENSG00000176244	ENSG00000176244			17715	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 7"""				Standard	NM_001039844		Approved	FLJ38219, bA455B2.2	uc010qby.1	Q8N6N7	OTTHUMG00000017725	ENST00000356189.5:c.177A>T	10.37:g.15120706T>A						ACBD7_ENST00000496890.1_5'UTR	p.A59A	NM_001039844.2	NP_001034933.1	Q8N6N7	ACBD7_HUMAN			3	224	-			59			ACB.		A6NCI2|B3KTG8	Silent	SNP	ENST00000356189.5	37	c.177A>T	CCDS31153.1																																																																																				0.388	ACBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046972.2			3	49	0	0	0	0.115264	0	3	49				
HPS4	89781	broad.mit.edu	37	22	26873048	26873048	+	Missense_Mutation	SNP	A	A	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr22:26873048A>T	ENST00000398145.2	-	4	803	c.187T>A	c.(187-189)Tgt>Agt	p.C63S	HPS4_ENST00000336873.5_Missense_Mutation_p.C63S|HPS4_ENST00000398141.1_Missense_Mutation_p.C58S|HPS4_ENST00000402105.3_Missense_Mutation_p.C58S	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	63					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						TCAGAAACACAGCGGACAACT	0.438									Hermansky-Pudlak syndrome																													ENST00000398145.2																			0				breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(187-189)Tgt>Agt		Hermansky-Pudlak syndrome 4							96.0	88.0	91.0					22																	26873048		2203	4300	6503	SO:0001583	missense	89781	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity	g.chr22:26873048A>T		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.187T>A	22.37:g.26873048A>T	ENSP00000381213:p.Cys63Ser					HPS4_ENST00000398141.1_Missense_Mutation_p.C58S|HPS4_ENST00000336873.5_Missense_Mutation_p.C63S|HPS4_ENST00000402105.3_Missense_Mutation_p.C58S	p.C63S	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN			4	803	-			63					B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Missense_Mutation	SNP	ENST00000398145.2	37	c.187T>A	CCDS13835.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.059236	0.76074	.	.	ENSG00000100099	ENST00000398145;ENST00000398141;ENST00000402105;ENST00000336873;ENST00000312736;ENST00000422379	D;D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98;-2.98	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.95726	0.8610	M	0.78637	2.42	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;0.996;0.999;0.999	D	0.96002	0.8994	10	0.66056	D	0.02	-19.5151	14.4442	0.67338	1.0:0.0:0.0:0.0	.	63;58;63;58	Q6ICH6;E5RG08;Q9NQG7;Q9NQG7-3	.;.;HPS4_HUMAN;.	S	63;58;58;63;63;63	ENSP00000381213:C63S;ENSP00000381210:C58S;ENSP00000384185:C58S;ENSP00000338457:C63S;ENSP00000415081:C63S	ENSP00000325840:C63S	C	-	1	0	HPS4	25203048	1.000000	0.71417	0.991000	0.47740	0.418000	0.31294	7.353000	0.79414	2.279000	0.76181	0.533000	0.62120	TGT		0.438	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320778.1	NM_022081		15	59	0	0	0	0.132662	0	15	59				
HLA-A	3105	broad.mit.edu	37	6	29910607	29910607	+	Silent	SNP	G	G	C	rs72555397		TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr6:29910607G>C	ENST00000396634.1	+	4	488	c.147G>C	c.(145-147)gtG>gtC	p.V49V	HLA-A_ENST00000376809.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V|HLA-A_ENST00000376806.5_Silent_p.V49V			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	49	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.V49V(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TCATCGCCGTGGGCTACGTGG	0.692									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			2	Substitution - coding silent(2)	p.V49V(2)	lung(1)|kidney(1)	central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(145-147)gtG>gtC		major histocompatibility complex, class I, A																																				SO:0001819	synonymous_variant	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910607G>C	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.147G>C	6.37:g.29910607G>C		Multiple Myeloma(9;0.094)				HLA-A_ENST00000376809.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V|HLA-A_ENST00000376806.5_Silent_p.V49V	p.V49V			P30443	1A01_HUMAN			4	488	+			49			Alpha-1.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Silent	SNP	ENST00000396634.1	37	c.147G>C	CCDS34373.1																																																																																				0.692	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		3	27	0	0	0	0.115264	0	3	27				
AFAP1L1	134265	broad.mit.edu	37	5	148687092	148687092	+	Silent	SNP	C	C	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr5:148687092C>T	ENST00000296721.4	+	7	761	c.663C>T	c.(661-663)tgC>tgT	p.C221C	AFAP1L1_ENST00000515000.1_Silent_p.C221C|AFAP1L1_ENST00000522492.1_3'UTR	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	221	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGGGAATGCAGGATATGTG	0.612																																						ENST00000296721.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26						c.(661-663)tgC>tgT		actin filament associated protein 1-like 1							77.0	65.0	69.0					5																	148687092		2203	4300	6503	SO:0001819	synonymous_variant	134265						protein binding	g.chr5:148687092C>T	AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"""Pleckstrin homology (PH) domain containing"""	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.663C>T	5.37:g.148687092C>T						AFAP1L1_ENST00000515000.1_Silent_p.C221C|AFAP1L1_ENST00000522492.1_3'UTR	p.C221C	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	761	+			221			PH 1.		Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Silent	SNP	ENST00000296721.4	37	c.663C>T	CCDS34274.1																																																																																				0.612	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373443.1	NM_152406		22	56	0	0	0	0.062417	0	22	56				
MKRN3	7681	broad.mit.edu	37	15	23811291	23811291	+	Missense_Mutation	SNP	T	T	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr15:23811291T>A	ENST00000314520.3	+	1	838	c.362T>A	c.(361-363)cTt>cAt	p.L121H	MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	121					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TCGCACGACCTTTCTGGTCGG	0.602																																						ENST00000314520.3																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(361-363)cTt>cAt		makorin ring finger protein 3							56.0	58.0	57.0					15																	23811291		2203	4300	6503	SO:0001583	missense	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23811291T>A	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.362T>A	15.37:g.23811291T>A	ENSP00000313881:p.Leu121His					MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	p.L121H	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	838	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	121						Missense_Mutation	SNP	ENST00000314520.3	37	c.362T>A	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.753744	0.69648	.	.	ENSG00000179455	ENST00000314520	T	0.35973	1.28	3.94	0.158	0.14942	Zinc finger, CCCH-type (2);	0.280449	0.29451	N	0.012115	T	0.35595	0.0937	L	0.58810	1.83	0.47819	D	0.999521	D	0.55800	0.973	P	0.52031	0.688	T	0.23833	-1.0177	10	0.59425	D	0.04	.	1.0095	0.01494	0.1919:0.1083:0.199:0.5008	.	121	Q13064	MKRN3_HUMAN	H	121	ENSP00000313881:L121H	ENSP00000313881:L121H	L	+	2	0	MKRN3	21362384	0.248000	0.23930	0.002000	0.10522	0.287000	0.27160	2.497000	0.45354	0.010000	0.14839	0.460000	0.39030	CTT		0.602	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		4	104	0	0	0	0.014758	0	4	104				
TMEM5	10329	broad.mit.edu	37	12	64202742	64202742	+	Missense_Mutation	SNP	C	C	A	rs202056995	byFrequency	TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr12:64202742C>A	ENST00000261234.6	+	6	1360	c.1202C>A	c.(1201-1203)aCt>aAt	p.T401N	TMEM5-AS1_ENST00000546214.1_RNA|TMEM5_ENST00000537373.1_Missense_Mutation_p.T141N	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	401						integral component of plasma membrane (GO:0005887)				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		AAAGAGAAAACTATAATTTTA	0.348																																						ENST00000537373.1																			0				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15						c.(421-423)aCt>aAt		transmembrane protein 5							37.0	39.0	38.0					12																	64202742		2202	4300	6502	SO:0001583	missense	10329					integral to plasma membrane		g.chr12:64202742C>A	AB015633	CCDS8966.1, CCDS61179.1	12q14.1	2013-05-07			ENSG00000118600	ENSG00000118600			13530	protein-coding gene	gene with protein product		605862				10072769, 23217329	Standard	NM_014254		Approved	HP10481	uc001srq.2	Q9Y2B1	OTTHUMG00000168730	ENST00000261234.6:c.1202C>A	12.37:g.64202742C>A	ENSP00000261234:p.Thr401Asn					TMEM5_ENST00000261234.6_Missense_Mutation_p.T401N|TMEM5-AS1_ENST00000546214.1_RNA	p.T141N	NM_001278237.1	NP_001265166.1	Q9Y2B1	TMEM5_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)	6	1370	+		Myeloproliferative disorder(1001;0.0255)	401					A8K017|Q6PKD6	Missense_Mutation	SNP	ENST00000261234.6	37	c.422C>A	CCDS8966.1	.	.	.	.	.	.	.	.	.	.	C	4.872	0.162096	0.09287	.	.	ENSG00000118600	ENST00000261234;ENST00000537373	.	.	.	4.96	-0.763	0.11030	.	0.724253	0.14387	N	0.322753	T	0.23727	0.0574	L	0.27053	0.805	0.09310	N	0.999999	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.18147	-1.0346	8	.	.	.	-18.9787	6.6171	0.22782	0.612:0.2229:0.0:0.1651	.	141;401	G3V1K2;Q9Y2B1	.;TMEM5_HUMAN	N	401;141	.	.	T	+	2	0	TMEM5	62489009	0.809000	0.29036	0.126000	0.21872	0.992000	0.81027	0.341000	0.19909	0.035000	0.15519	0.561000	0.74099	ACT		0.348	TMEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400821.1	NM_014254		12	55	1	0	0.00010058	0.093190	0.00011092	12	55				
MCM5	4174	broad.mit.edu	37	22	35812725	35812725	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr22:35812725A>G	ENST00000216122.4	+	12	1662	c.1508A>G	c.(1507-1509)aAc>aGc	p.N503S	MCM5_ENST00000382011.5_Missense_Mutation_p.N460S	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	503	MCM.				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						GGGGAGGACAACATTGACTTC	0.582																																						ENST00000216122.4																			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.(1507-1509)aAc>aGc		minichromosome maintenance complex component 5							140.0	108.0	119.0					22																	35812725		2203	4300	6503	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.chr22:35812725A>G		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.1508A>G	22.37:g.35812725A>G	ENSP00000216122:p.Asn503Ser					MCM5_ENST00000382011.5_Missense_Mutation_p.N460S	p.N503S	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN			12	1662	+			503			MCM.		O60785|Q14578|Q9BTJ4|Q9BWL8	Missense_Mutation	SNP	ENST00000216122.4	37	c.1508A>G	CCDS13915.1	.	.	.	.	.	.	.	.	.	.	A	32	5.117834	0.94385	.	.	ENSG00000100297	ENST00000216122;ENST00000382011	T;T	0.09255	3.0;3.0	5.77	5.77	0.91146	.	0.084340	0.85682	D	0.000000	T	0.46014	0.1371	H	0.97240	3.965	0.80722	D	1	P;P;P;P	0.50710	0.938;0.938;0.938;0.938	P;P;P;P	0.58780	0.835;0.835;0.845;0.835	T	0.65545	-0.6142	10	0.87932	D	0	-27.9912	16.1536	0.81640	1.0:0.0:0.0:0.0	.	503;503;460;503	B1AHB0;Q53FG5;B1AHB1;P33992	.;.;.;MCM5_HUMAN	S	503;460	ENSP00000216122:N503S;ENSP00000371441:N460S	ENSP00000216122:N503S	N	+	2	0	MCM5	34142725	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.173000	0.94815	2.214000	0.71695	0.529000	0.55759	AAC		0.582	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320661.3			24	64	0	0	0	0.076483	0	24	64				
FGF6	2251	broad.mit.edu	37	12	4554545	4554545	+	Silent	SNP	C	C	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr12:4554545C>T	ENST00000228837.2	-	1	235	c.192G>A	c.(190-192)ggG>ggA	p.G64G		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	64					angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|myoblast differentiation (GO:0045445)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|sarcolemma (GO:0042383)	growth factor activity (GO:0008083)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			CTCCAGCTAGCCCGGCGCGAG	0.647																																						ENST00000228837.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(190-192)ggG>ggA		fibroblast growth factor 6							92.0	85.0	87.0					12																	4554545		2203	4300	6503	SO:0001819	synonymous_variant	2251				angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity	g.chr12:4554545C>T	X63454	CCDS8527.1	12p13	2014-01-30				ENSG00000111241		"""Endogenous ligands"""	3684	protein-coding gene	gene with protein product		134921				16597617	Standard	NM_020996		Approved		uc001qmr.1	P10767		ENST00000228837.2:c.192G>A	12.37:g.4554545C>T							p.G64G	NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)		1	235	-			64					Q0VAE1	Silent	SNP	ENST00000228837.2	37	c.192G>A	CCDS8527.1																																																																																				0.647	FGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398939.1	NM_020996		4	99	0	0	0	0.009096	0	4	99				
C11orf30	56946	broad.mit.edu	37	11	76171050	76171050	+	Silent	SNP	A	A	G			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr11:76171050A>G	ENST00000529032.1	+	5	492	c.492A>G	c.(490-492)gcA>gcG	p.A164A	C11orf30_ENST00000525038.1_Silent_p.A179A|C11orf30_ENST00000524767.1_Silent_p.A179A|C11orf30_ENST00000525919.1_Silent_p.A165A|C11orf30_ENST00000343878.3_Silent_p.A164A|C11orf30_ENST00000524490.1_Silent_p.A165A|C11orf30_ENST00000334736.3_Silent_p.A164A|C11orf30_ENST00000533248.1_Silent_p.A178A			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	164	Interaction with BRCA2.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						GCAGCATAGCAACGGTTAAGT	0.448																																						ENST00000529032.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						c.(490-492)gcA>gcG		chromosome 11 open reading frame 30							229.0	196.0	208.0					11																	76171050		2200	4292	6492	SO:0001819	synonymous_variant	56946				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr11:76171050A>G	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.492A>G	11.37:g.76171050A>G						C11orf30_ENST00000525038.1_Silent_p.A179A|C11orf30_ENST00000533248.1_Silent_p.A178A|C11orf30_ENST00000334736.3_Silent_p.A164A|C11orf30_ENST00000343878.3_Silent_p.A164A|C11orf30_ENST00000525919.1_Silent_p.A165A|C11orf30_ENST00000524767.1_Silent_p.A179A|C11orf30_ENST00000524490.1_Silent_p.A165A	p.A164A			Q7Z589	EMSY_HUMAN			5	492	+			164			Interaction with BRCA2.		B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Silent	SNP	ENST00000529032.1	37	c.492A>G	CCDS8244.1																																																																																				0.448	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		45	186	0	0	0	0.131918	0	45	186				
DMXL2	23312	broad.mit.edu	37	15	51828461	51828461	+	Missense_Mutation	SNP	G	G	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr15:51828461G>C	ENST00000251076.5	-	12	2503	c.2216C>G	c.(2215-2217)aCt>aGt	p.T739S	DMXL2_ENST00000543779.2_Missense_Mutation_p.T739S|DMXL2_ENST00000449909.3_Missense_Mutation_p.T739S	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	739						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TACTCCTCCAGTGTATGACAA	0.433																																						ENST00000251076.5																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101						c.(2215-2217)aCt>aGt		Dmx-like 2							216.0	200.0	205.0					15																	51828461		2195	4293	6488	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51828461G>C	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.2216C>G	15.37:g.51828461G>C	ENSP00000251076:p.Thr739Ser					DMXL2_ENST00000543779.2_Missense_Mutation_p.T739S|DMXL2_ENST00000449909.3_Missense_Mutation_p.T739S	p.T739S	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	12	2503	-			739					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.2216C>G	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	G	8.195	0.796844	0.16327	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.23552	1.9;1.9;1.9	5.39	5.39	0.77823	WD40/YVTN repeat-like-containing domain (1);	0.045708	0.85682	D	0.000000	T	0.06645	0.0170	N	0.00408	-1.53	0.27482	N	0.95255	B;B;B	0.24651	0.047;0.087;0.108	B;B;B	0.19946	0.015;0.018;0.027	T	0.15464	-1.0436	10	0.02654	T	1	.	14.7243	0.69332	0.0:0.1445:0.8555:0.0	.	739;739;739	F5GWF1;B2RTR3;Q8TDJ6	.;.;DMXL2_HUMAN	S	739	ENSP00000251076:T739S;ENSP00000441858:T739S;ENSP00000400855:T739S	ENSP00000251076:T739S	T	-	2	0	DMXL2	49615753	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.513000	0.81739	2.510000	0.84645	0.655000	0.94253	ACT		0.433	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		6	278	0	0	0	0.029380	0	6	278				
SLC16A2	6567	broad.mit.edu	37	X	73745646	73745646	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chrX:73745646T>C	ENST00000587091.1	+	4	1265	c.1088T>C	c.(1087-1089)aTt>aCt	p.I363T	SLC16A2_ENST00000276033.5_Missense_Mutation_p.I437T	NM_006517.4	NP_006508.2	P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	363					monocarboxylic acid transport (GO:0015718)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)|transporter activity (GO:0005215)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					L-Leucine(DB00149)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|Levothyroxine(DB00451)|Liotrix(DB01583)|Pyruvic acid(DB00119)	TTGGTGTGTATTGGGGCTACC	0.507																																						ENST00000276033.5																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21						c.(1309-1311)aTt>aCt		solute carrier family 16, member 2 (thyroid hormone transporter)	Pyruvic acid(DB00119)						199.0	168.0	178.0					X																	73745646		2203	4300	6503	SO:0001583	missense	6567					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chrX:73745646T>C		CCDS14426.1, CCDS14426.2	Xq13.2	2013-05-22	2012-03-20		ENSG00000147100	ENSG00000147100		"""Solute carriers"""	10923	protein-coding gene	gene with protein product		300095	"""solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)"", ""Allan-Herndon-Dudley syndrome"", ""solute carrier family 16 (monocarboxylic acid transporters), member 2"", ""mental retardation, X-linked 22"", ""solute carrier family 16, member 2 (monocarboxylic acid transporter 8)"""	DXS128, AHDS, MRX22		7981683, 12871948, 15889350	Standard	NM_006517		Approved	XPCT, MCT8, MCT7	uc031tjy.1	P36021	OTTHUMG00000021857	ENST00000587091.1:c.1088T>C	X.37:g.73745646T>C	ENSP00000465734:p.Ile363Thr					SLC16A2_ENST00000587091.1_Missense_Mutation_p.I363T	p.I437T			P36021	MOT8_HUMAN			4	1476	+			363					Q7Z797	Missense_Mutation	SNP	ENST00000587091.1	37	c.1310T>C	CCDS14426.2	.	.	.	.	.	.	.	.	.	.	T	18.58	3.655523	0.67586	.	.	ENSG00000147100	ENST00000276033	T	0.57907	0.37	4.94	4.94	0.65067	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.087067	0.39687	U	0.001297	T	0.70736	0.3258	M	0.73430	2.235	0.52099	D	0.999942	D	0.63880	0.993	D	0.69142	0.962	T	0.75167	-0.3413	10	0.87932	D	0	.	13.8619	0.63566	0.0:0.0:0.0:1.0	.	363	P36021	MOT8_HUMAN	T	437	ENSP00000276033:I437T	ENSP00000276033:I437T	I	+	2	0	SLC16A2	73662371	1.000000	0.71417	0.998000	0.56505	0.937000	0.57800	7.695000	0.84257	1.647000	0.50633	0.483000	0.47432	ATT		0.507	SLC16A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057266.3			5	77	0	0	0	0.014758	0	5	77				
YEATS2	55689	broad.mit.edu	37	3	183446551	183446551	+	Missense_Mutation	SNP	C	C	A	rs368128873		TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr3:183446551C>A	ENST00000305135.5	+	7	919	c.724C>A	c.(724-726)Cgt>Agt	p.R242S		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	242	YEATS. {ECO:0000255|PROSITE- ProRule:PRU00376}.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCGAGGGTCCCGTAGAGAACC	0.413																																						ENST00000305135.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49						c.(724-726)Cgt>Agt		YEATS domain containing 2							117.0	119.0	118.0					3																	183446551		1850	4092	5942	SO:0001583	missense	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183446551C>A	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.724C>A	3.37:g.183446551C>A	ENSP00000306983:p.Arg242Ser						p.R242S	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		7	919	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		242			YEATS.		A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	c.724C>A	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168985	0.78339	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.23147	1.92	5.47	5.47	0.80525	.	0.070420	0.56097	D	0.000032	T	0.27278	0.0669	N	0.16098	0.37	0.58432	D	0.999992	P	0.49253	0.921	P	0.55785	0.784	T	0.03017	-1.1082	10	0.31617	T	0.26	-11.6086	14.1927	0.65649	0.1496:0.8504:0.0:0.0	.	242	Q9ULM3	YETS2_HUMAN	S	242	ENSP00000306983:R242S	ENSP00000306983:R242S	R	+	1	0	YEATS2	184929245	0.992000	0.36948	0.998000	0.56505	0.989000	0.77384	2.813000	0.48002	2.553000	0.86117	0.563000	0.77884	CGT		0.413	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		14	84	1	0	9.05144e-12	0.105934	1.0575e-11	14	84				
AOC1	26	broad.mit.edu	37	7	150555947	150555947	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr7:150555947A>G	ENST00000493429.1	+	5	2251	c.1667A>G	c.(1666-1668)cAg>cGg	p.Q556R	AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000360937.4_Missense_Mutation_p.Q556R|AOC1_ENST00000467291.1_Missense_Mutation_p.Q556R|AOC1_ENST00000416793.2_Missense_Mutation_p.Q556R			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	556					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	ACTCTGGAGCAGACGCAGTAC	0.597																																						ENST00000493429.1																			0											c.(1666-1668)cAg>cGg		amine oxidase, copper containing 1							32.0	36.0	35.0					7																	150555947		1994	4170	6164	SO:0001583	missense	26							g.chr7:150555947A>G	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.1667A>G	7.37:g.150555947A>G	ENSP00000418614:p.Gln556Arg					AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000360937.4_Missense_Mutation_p.Q556R|AOC1_ENST00000467291.1_Missense_Mutation_p.Q556R|AOC1_ENST00000416793.2_Missense_Mutation_p.Q556R	p.Q556R							5	2251	+								C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	ENST00000493429.1	37	c.1667A>G	CCDS43679.1	.	.	.	.	.	.	.	.	.	.	A	0.028	-1.357010	0.01245	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000360937;ENST00000487631;ENST00000416793;ENST00000437714	T;T;T;T	0.03094	4.05;4.05;4.05;4.05	5.57	-1.9	0.07665	Copper amine oxidase, C-terminal (3);	0.333584	0.33217	N	0.005160	T	0.01156	0.0038	N	0.02842	-0.48	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.002	T	0.46762	-0.9168	10	0.02654	T	1	-35.5427	5.9683	0.19338	0.3875:0.0:0.4662:0.1463	.	556;556	C9J690;P19801	.;ABP1_HUMAN	R	556;556;556;82;556;432	ENSP00000418614:Q556R;ENSP00000418328:Q556R;ENSP00000354193:Q556R;ENSP00000411613:Q556R	ENSP00000354193:Q556R	Q	+	2	0	ABP1	150186880	0.025000	0.19082	0.000000	0.03702	0.003000	0.03518	2.041000	0.41213	-0.110000	0.12022	-0.366000	0.07423	CAG		0.597	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		9	26	0	0	0	0.047766	0	9	26				
RAB11FIP5	26056	broad.mit.edu	37	2	73303217	73303217	+	Missense_Mutation	SNP	A	A	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr2:73303217A>T	ENST00000258098.6	-	4	1902	c.1662T>A	c.(1660-1662)agT>agA	p.S554R	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	554					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						TCTCCAGCCCACTGCTCAGGG	0.622																																						ENST00000258098.6																			0				biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1660-1662)agT>agA		RAB11 family interacting protein 5 (class I)							140.0	144.0	143.0					2																	73303217		2203	4300	6503	SO:0001583	missense	26056				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	g.chr2:73303217A>T	AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.1662T>A	2.37:g.73303217A>T	ENSP00000258098:p.Ser554Arg					RAB11FIP5_ENST00000493523.2_5'UTR	p.S554R	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN			4	1902	-			554					O94939|Q9P0M1	Missense_Mutation	SNP	ENST00000258098.6	37	c.1662T>A	CCDS1923.1	.	.	.	.	.	.	.	.	.	.	A	19.08	3.758590	0.69763	.	.	ENSG00000135631	ENST00000258098	T	0.48522	0.81	5.29	-9.74	0.00509	.	0.320834	0.32041	N	0.006672	T	0.33294	0.0858	L	0.32530	0.975	0.27630	N	0.948056	B	0.18461	0.028	B	0.16289	0.015	T	0.01232	-1.1411	10	0.28530	T	0.3	-4.805	23.719	0.99985	0.158:0.0:0.842:0.0	.	554	Q9BXF6	RFIP5_HUMAN	R	554	ENSP00000258098:S554R	ENSP00000258098:S554R	S	-	3	2	RAB11FIP5	73156725	0.003000	0.15002	0.374000	0.26016	0.989000	0.77384	-1.646000	0.01998	-2.150000	0.00796	-0.312000	0.09012	AGT		0.622	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1	NM_015470		45	240	0	0	0	0.139131	0	45	240				
OR2M2	391194	broad.mit.edu	37	1	248343458	248343458	+	Silent	SNP	C	C	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr1:248343458C>A	ENST00000359682.2	+	1	171	c.171C>A	c.(169-171)acC>acA	p.T57T		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AGCTCCACACCCCCATGTACT	0.532																																						ENST00000359682.2																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70						c.(169-171)acC>acA		olfactory receptor, family 2, subfamily M, member 2							313.0	298.0	303.0					1																	248343458		2203	4298	6501	SO:0001819	synonymous_variant	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248343458C>A	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.171C>A	1.37:g.248343458C>A							p.T57T	NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	171	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		57					A3KFT4	Silent	SNP	ENST00000359682.2	37	c.171C>A	CCDS31106.1																																																																																				0.532	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		71	278	1	0	3.00167e-28	0.139131	3.54197e-28	71	278				
UTP18	51096	broad.mit.edu	37	17	49353345	49353345	+	Missense_Mutation	SNP	T	T	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr17:49353345T>A	ENST00000225298.7	+	6	887	c.830T>A	c.(829-831)cTa>cAa	p.L277Q		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	277					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			GCTGTATCACTATTTCAGGTA	0.378																																						ENST00000225298.7																			0				breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						c.(829-831)cTa>cAa		UTP18 small subunit (SSU) processome component homolog (yeast)							87.0	86.0	86.0					17																	49353345		1886	4109	5995	SO:0001583	missense	51096				rRNA processing	nucleolus		g.chr17:49353345T>A	AF151806	CCDS42362.1	17q21.33	2013-05-21	2011-12-09	2006-05-16	ENSG00000011260	ENSG00000011260		"""WD repeat domain containing"""	24274	protein-coding gene	gene with protein product		612816	"""WD repeat domain 50"""	WDR50		10810093, 8619474, 15590835	Standard	NM_016001		Approved	CGI-48	uc002its.3	Q9Y5J1	OTTHUMG00000162370	ENST00000225298.7:c.830T>A	17.37:g.49353345T>A	ENSP00000225298:p.Leu277Gln						p.L277Q	NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.09e-07)		6	887	+			277					Q9H4N6	Missense_Mutation	SNP	ENST00000225298.7	37	c.830T>A	CCDS42362.1	.	.	.	.	.	.	.	.	.	.	T	34	5.306044	0.95629	.	.	ENSG00000011260	ENST00000225298;ENST00000508506	T	0.20463	2.07	6.07	6.07	0.98685	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.52980	0.1768	M	0.86740	2.835	0.39339	D	0.965553	D	0.89917	1.0	D	0.87578	0.998	T	0.62520	-0.6837	10	0.87932	D	0	-12.4871	15.2117	0.73230	0.0:0.0:0.0:1.0	.	277	Q9Y5J1	UTP18_HUMAN	Q	277;253	ENSP00000225298:L277Q	ENSP00000225298:L277Q	L	+	2	0	UTP18	46708344	0.949000	0.32298	0.011000	0.14972	0.944000	0.59088	6.504000	0.73704	2.326000	0.78906	0.533000	0.62120	CTA		0.378	UTP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368654.1	NM_016001		5	36	0	0	0	0.014758	0	5	36				
L3MBTL3	84456	broad.mit.edu	37	6	130415459	130415459	+	Silent	SNP	G	G	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr6:130415459G>T	ENST00000529410.1	+	20	2162	c.1683G>T	c.(1681-1683)ccG>ccT	p.P561P	L3MBTL3_ENST00000361794.2_Silent_p.P561P|L3MBTL3_ENST00000368139.2_Silent_p.P536P|L3MBTL3_ENST00000533560.1_Silent_p.P536P|L3MBTL3_ENST00000368136.2_Silent_p.P561P|L3MBTL3_ENST00000526019.1_Silent_p.P536P			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	561					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		GCTCAACCCCGGGATGTAAAG	0.443																																						ENST00000529410.1																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43						c.(1681-1683)ccG>ccT		l(3)mbt-like 3 (Drosophila)							83.0	80.0	81.0					6																	130415459		2203	4300	6503	SO:0001819	synonymous_variant	84456				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr6:130415459G>T	AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"""Sterile alpha motif (SAM) domain containing"""	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.1683G>T	6.37:g.130415459G>T						L3MBTL3_ENST00000361794.2_Silent_p.P561P|L3MBTL3_ENST00000368136.2_Silent_p.P561P|L3MBTL3_ENST00000368139.2_Silent_p.P536P|L3MBTL3_ENST00000533560.1_Silent_p.P536P|L3MBTL3_ENST00000526019.1_Silent_p.P536P	p.P561P			Q96JM7	LMBL3_HUMAN		GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)	20	2162	+			561					Q4VXE1|Q5VUM9|Q6P9B5	Silent	SNP	ENST00000529410.1	37	c.1683G>T	CCDS34537.1																																																																																				0.443	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042195.2	XM_027074		3	44	1	0	0.115264	0.115264	0.120364	3	44				
UROD	7389	broad.mit.edu	37	1	45479706	45479706	+	Silent	SNP	C	C	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr1:45479706C>T	ENST00000246337.4	+	6	719	c.600C>T	c.(598-600)gtC>gtT	p.V200V	UROD_ENST00000494399.1_3'UTR|HECTD3_ENST00000372172.4_5'Flank	NM_000374.4	NP_000365.3	P06132	DCUP_HUMAN	uroporphyrinogen decarboxylase	200					heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	uroporphyrinogen decarboxylase activity (GO:0004853)			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					ATGCTCTGGTCCCATATCTGG	0.557									Porphyria Cutanea Tarda, Type II																													ENST00000246337.4																			0				endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						c.(598-600)gtC>gtT		uroporphyrinogen decarboxylase							87.0	90.0	89.0					1																	45479706		2203	4300	6503	SO:0001819	synonymous_variant	7389	Porphyria Cutanea Tarda, Type II	Familial Cancer Database	PCT-II		cytosol|microtubule cytoskeleton|nucleus	uroporphyrinogen decarboxylase activity	g.chr1:45479706C>T	BC001778	CCDS518.1	1p34	2012-10-02			ENSG00000126088	ENSG00000126088	4.1.1.37		12591	protein-coding gene	gene with protein product		613521				3015909, 3460962	Standard	NM_000374		Approved		uc001cna.2	P06132	OTTHUMG00000008949	ENST00000246337.4:c.600C>T	1.37:g.45479706C>T						UROD_ENST00000494399.1_3'UTR	p.V200V	NM_000374.4	NP_000365.3	P06132	DCUP_HUMAN			6	719	+	Acute lymphoblastic leukemia(166;0.155)		200					A8K762|Q16863|Q16883|Q53YB8|Q53ZP6|Q6IB28|Q9BUZ0	Silent	SNP	ENST00000246337.4	37	c.600C>T	CCDS518.1																																																																																				0.557	UROD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024803.1	NM_000374		23	92	0	0	0	0.083992	0	23	92				
PPFIA2	8499	broad.mit.edu	37	12	81671129	81671129	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr12:81671129T>C	ENST00000549396.1	-	28	3437	c.3277A>G	c.(3277-3279)Aga>Gga	p.R1093G	PPFIA2_ENST00000407050.4_Missense_Mutation_p.R992G|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000548586.1_Missense_Mutation_p.R1087G|PPFIA2_ENST00000541570.2_Missense_Mutation_p.R629G|PPFIA2_ENST00000550359.2_Missense_Mutation_p.R940G|PPFIA2_ENST00000443686.3_Missense_Mutation_p.R988G|PPFIA2_ENST00000333447.7_Missense_Mutation_p.R1081G|PPFIA2_ENST00000550584.2_Missense_Mutation_p.R1093G|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000541017.1_Missense_Mutation_p.R279G|PPFIA2_ENST00000549325.1_Missense_Mutation_p.R1078G|PPFIA2_ENST00000552948.1_Missense_Mutation_p.R1072G	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	1093					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCCCGTCTTCTTTCTAGTTCT	0.289																																						ENST00000550584.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						c.(3277-3279)Aga>Gga		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2							129.0	116.0	120.0					12																	81671129		1797	4058	5855	SO:0001583	missense	8499							g.chr12:81671129T>C	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.3277A>G	12.37:g.81671129T>C	ENSP00000450337:p.Arg1093Gly					PPFIA2_ENST00000541570.2_Missense_Mutation_p.R629G|PPFIA2_ENST00000552948.1_Missense_Mutation_p.R1072G|PPFIA2_ENST00000541017.1_Missense_Mutation_p.R279G|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550359.2_Missense_Mutation_p.R940G|PPFIA2_ENST00000333447.7_Missense_Mutation_p.R1081G|PPFIA2_ENST00000443686.3_Missense_Mutation_p.R988G|PPFIA2_ENST00000548586.1_Missense_Mutation_p.R1087G|PPFIA2_ENST00000549325.1_Missense_Mutation_p.R1078G|PPFIA2_ENST00000407050.4_Missense_Mutation_p.R992G|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000549396.1_Missense_Mutation_p.R1093G	p.R1093G	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN			27	3572	-			992					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.3277A>G	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	T	15.78	2.934995	0.52866	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948	T;T;T;T;T;T;T;T;T	0.35789	2.08;2.08;1.74;1.29;1.72;2.09;2.08;1.75;2.07	5.71	5.71	0.89125	.	0.052111	0.64402	D	0.000001	T	0.48502	0.1503	M	0.90483	3.12	0.58432	D	0.999995	B	0.26775	0.159	B	0.17722	0.019	T	0.55121	-0.8190	10	0.87932	D	0	-18.3604	15.652	0.77104	0.0:0.0:0.0:1.0	.	1093	O75334	LIPA2_HUMAN	G	1093;1078;629;279;992;1104;1081;1087;988;1072	ENSP00000450337:R1093G;ENSP00000450298:R1078G;ENSP00000438337:R629G;ENSP00000445532:R279G;ENSP00000385093:R992G;ENSP00000327416:R1081G;ENSP00000449338:R1087G;ENSP00000388373:R988G;ENSP00000447868:R1072G	ENSP00000327416:R1081G	R	-	1	2	PPFIA2	80195260	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.012000	0.57131	2.187000	0.69744	0.533000	0.62120	AGA		0.289	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			3	8	0	0	0	0.115264	0	3	8				
ZNF397	84307	broad.mit.edu	37	18	32822516	32822516	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr18:32822516G>T	ENST00000330501.7	+	2	235	c.82G>T	c.(82-84)Gat>Tat	p.D28Y	ZNF397_ENST00000589420.1_Intron|ZNF397_ENST00000591206.1_Missense_Mutation_p.D28Y|ZNF397_ENST00000261333.6_Missense_Mutation_p.D28Y|ZNF397_ENST00000592264.1_Missense_Mutation_p.D28Y|ZNF397_ENST00000355632.4_Missense_Mutation_p.D28Y|ZNF397_ENST00000585800.1_Missense_Mutation_p.D28Y	NM_001135178.2	NP_001128650.1	Q8NF99	ZN397_HUMAN	zinc finger protein 397	28					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	12						GAAAGTAGAAGATAACTTTTC	0.413																																						ENST00000330501.7																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	12						c.(82-84)Gat>Tat		zinc finger protein 397							57.0	62.0	60.0					18																	32822516		2203	4300	6503	SO:0001583	missense	84307				viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:32822516G>T	BC006172	CCDS32814.1, CCDS45852.1	18p12	2013-01-09	2003-07-22			ENSG00000186812		"""-"", ""Zinc fingers, C2H2-type"""	18818	protein-coding gene	gene with protein product		609601	"""zinc finger protein 47"""	ZNF47			Standard	NM_032347		Approved	ZSCAN15, MGC13250	uc010dmp.3	Q8NF99		ENST00000330501.7:c.82G>T	18.37:g.32822516G>T	ENSP00000331577:p.Asp28Tyr					ZNF397_ENST00000585800.1_Missense_Mutation_p.D28Y|ZNF397_ENST00000591206.1_Missense_Mutation_p.D28Y|ZNF397_ENST00000589420.1_Intron|ZNF397_ENST00000592264.1_Missense_Mutation_p.D28Y|ZNF397_ENST00000261333.6_Missense_Mutation_p.D28Y|ZNF397_ENST00000355632.4_Missense_Mutation_p.D28Y	p.D28Y	NM_001135178.2	NP_001128650.1	Q8NF99	ZN397_HUMAN			2	235	+			28					Q9BRM2	Missense_Mutation	SNP	ENST00000330501.7	37	c.82G>T	CCDS45852.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.025216	0.54683	.	.	ENSG00000186812	ENST00000261333;ENST00000330501;ENST00000355632	T;T;T	0.08458	4.15;3.09;4.15	3.91	3.91	0.45181	.	.	.	.	.	T	0.13798	0.0334	L	0.39898	1.24	0.37611	D	0.920929	D;P;D;P	0.58620	0.971;0.799;0.983;0.946	P;B;P;P	0.53809	0.641;0.328;0.735;0.648	T	0.02220	-1.1193	9	0.87932	D	0	.	11.6818	0.51461	0.0:0.0:1.0:0.0	.	28;28;28;28	Q96K65;Q8NF99;Q8NF99-2;Q8NF99-3	.;ZN397_HUMAN;.;.	Y	28	ENSP00000261333:D28Y;ENSP00000331577:D28Y;ENSP00000347850:D28Y	ENSP00000261333:D28Y	D	+	1	0	ZNF397	31076514	1.000000	0.71417	0.990000	0.47175	0.699000	0.40488	1.609000	0.36858	2.470000	0.83445	0.591000	0.81541	GAT		0.413	ZNF397-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442398.1	NM_032347		13	89	1	0	7.93312e-07	0.119110	9.00104e-07	13	89				
SAGE1	55511	broad.mit.edu	37	X	134978476	134978476	+	Silent	SNP	A	A	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chrX:134978476A>C	ENST00000370709.3	+	1	75	c.75A>C	c.(73-75)acA>acC	p.T25T	SAGE1_ENST00000537770.1_Silent_p.T25T|SAGE1_ENST00000324447.3_Silent_p.T25T|SAGE1_ENST00000535938.1_Silent_p.T25T			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	25						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					ATGTGTTTACAAATGATGGGC	0.368																																						ENST00000535938.1																			0				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(73-75)acA>acC		sarcoma antigen 1							102.0	84.0	90.0					X																	134978476		2203	4300	6503	SO:0001819	synonymous_variant	55511							g.chrX:134978476A>C	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.75A>C	X.37:g.134978476A>C						SAGE1_ENST00000537770.1_Silent_p.T25T|SAGE1_ENST00000324447.3_Silent_p.T25T|SAGE1_ENST00000370709.3_Silent_p.T25T	p.T25T	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN			2	242	+	Acute lymphoblastic leukemia(192;0.000127)		25					Q5JNW0	Silent	SNP	ENST00000370709.3	37	c.75A>C	CCDS14652.1																																																																																				0.368	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		15	47	0	0	0	0.132662	0	15	47				
PRPF8	10594	broad.mit.edu	37	17	1577101	1577101	+	Missense_Mutation	SNP	T	T	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr17:1577101T>A	ENST00000572621.1	-	21	3650	c.3385A>T	c.(3385-3387)Aat>Tat	p.N1129Y	PRPF8_ENST00000304992.6_Missense_Mutation_p.N1129Y			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1129	Reverse transcriptase homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TTCTTGTTATTATAGCCAACG	0.507																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(3385-3387)Aat>Tat		pre-mRNA processing factor 8							200.0	182.0	189.0					17																	1577101		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1577101T>A	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.3385A>T	17.37:g.1577101T>A	ENSP00000460348:p.Asn1129Tyr					PRPF8_ENST00000304992.6_Missense_Mutation_p.N1129Y	p.N1129Y			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	21	3650	-			1129					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.3385A>T	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.563166	0.86335	.	.	ENSG00000174231	ENST00000304992	T	0.81330	-1.48	5.45	5.45	0.79879	.	0.078228	0.85682	D	0.000000	D	0.90796	0.7110	M	0.93594	3.435	0.80722	D	1	P	0.49862	0.929	P	0.57057	0.812	D	0.92990	0.6414	10	0.72032	D	0.01	.	15.6711	0.77274	0.0:0.0:0.0:1.0	.	1129	Q6P2Q9	PRP8_HUMAN	Y	1129	ENSP00000304350:N1129Y	ENSP00000304350:N1129Y	N	-	1	0	PRPF8	1523851	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.864000	0.87037	2.285000	0.76669	0.477000	0.44152	AAT		0.507	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			34	126	0	0	0	0.054565	0	34	126				
UBE2D2	7322	broad.mit.edu	37	5	139003010	139003010	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr5:139003010C>T	ENST00000398733.3	+	6	988	c.362C>T	c.(361-363)cCt>cTt	p.P121L	UBE2D2_ENST00000511725.1_Missense_Mutation_p.P92L|UBE2D2_ENST00000505548.1_Missense_Mutation_p.P92L|UBE2D2_ENST00000253815.2_Missense_Mutation_p.P92L	NM_003339.2	NP_003330.1	P62837	UB2D2_HUMAN	ubiquitin-conjugating enzyme E2D 2	121					cellular protein modification process (GO:0006464)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CCTTTAGTGCCTGAGATTGCT	0.383																																						ENST00000253815.2																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9						c.(274-276)cCt>cTt		ubiquitin-conjugating enzyme E2D 2							198.0	176.0	183.0					5																	139003010		1913	4150	6063	SO:0001583	missense	7322				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process		ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr5:139003010C>T	L40146	CCDS43369.1, CCDS47275.1	5q31.2	2013-10-18	2011-05-19		ENSG00000131508	ENSG00000131508		"""Ubiquitin-conjugating enzymes E2"""	12475	protein-coding gene	gene with protein product		602962	"""ubiquitin-conjugating enzyme E2D 2 (homologous to yeast UBC4/5)"", ""ubiquitin-conjugating enzyme E2D 2 (UBC4/5 homolog, yeast)"""			8530467	Standard	NM_181838		Approved	UbcH5B, UBC4	uc003ler.3	P62837	OTTHUMG00000163282	ENST00000398733.3:c.362C>T	5.37:g.139003010C>T	ENSP00000381717:p.Pro121Leu					UBE2D2_ENST00000398733.3_Missense_Mutation_p.P121L|UBE2D2_ENST00000505548.1_Missense_Mutation_p.P92L|UBE2D2_ENST00000511725.1_Missense_Mutation_p.P92L	p.P92L	NM_181838.1	NP_862821.1	P62837	UB2D2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		7	1152	+			121					D3DQC9|P51669|Q3MN78|Q96RP6	Missense_Mutation	SNP	ENST00000398733.3	37	c.275C>T	CCDS43369.1	.	.	.	.	.	.	.	.	.	.	C	36	5.785193	0.96937	.	.	ENSG00000131508	ENST00000511725;ENST00000398733;ENST00000253815;ENST00000505007;ENST00000398734;ENST00000505548	T;T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22;1.22	6.01	6.01	0.97437	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.61837	0.2379	M	0.74647	2.275	0.80722	D	1	D	0.53462	0.96	P	0.62298	0.9	T	0.62062	-0.6933	10	0.87932	D	0	.	20.5141	0.99211	0.0:1.0:0.0:0.0	.	121	P62837	UB2D2_HUMAN	L	92;121;92;92;121;92	ENSP00000429613:P92L;ENSP00000381717:P121L;ENSP00000253815:P92L;ENSP00000426523:P92L;ENSP00000381718:P121L;ENSP00000424941:P92L	ENSP00000253815:P92L	P	+	2	0	UBE2D2	138983194	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.815000	0.86186	2.850000	0.98022	0.655000	0.94253	CCT		0.383	UBE2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372454.3	NM_181838		14	81	0	0	0	0.119110	0	14	81				
IPO5	3843	broad.mit.edu	37	13	98658520	98658520	+	Missense_Mutation	SNP	C	C	T	rs566255473		TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr13:98658520C>T	ENST00000490680.1	+	14	1699	c.1634C>T	c.(1633-1635)gCg>gTg	p.A545V	IPO5_ENST00000493492.2_3'UTR|IPO5_ENST00000539640.1_Missense_Mutation_p.A420V|IPO5_ENST00000261574.5_Missense_Mutation_p.A563V			O00410	IPO5_HUMAN	importin 5	545					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GTTGAGAATGCGGTTCAAAAA	0.378													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16537	0.0		0.0	False		,,,				2504	0.0					ENST00000261574.5																			0				breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						c.(1687-1689)gCg>gTg		importin 5							95.0	92.0	93.0					13																	98658520		2203	4300	6503	SO:0001583	missense	3843				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding	g.chr13:98658520C>T	U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"""Importins"""	6402	protein-coding gene	gene with protein product		602008	"""karyopherin (importin) beta 3"", ""RAN binding protein 5"""	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.1634C>T	13.37:g.98658520C>T	ENSP00000418393:p.Ala545Val					IPO5_ENST00000490680.1_Missense_Mutation_p.A545V|IPO5_ENST00000493492.2_3'UTR|IPO5_ENST00000539640.1_Missense_Mutation_p.A420V	p.A563V	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN			17	1868	+			545					B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	ENST00000490680.1	37	c.1688C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.423620|5.423620	0.96111|0.96111	.|.	.|.	ENSG00000065150|ENSG00000065150	ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640|ENST00000469360	T;T;T;T|.	0.24350|.	1.86;1.86;1.86;1.86|.	5.1|5.1	5.1|5.1	0.69264|0.69264	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76644|0.76644	0.4016|0.4016	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	P;D;D|.	0.69078|.	0.947;0.995;0.997|.	P;P;P|.	0.54664|.	0.59;0.578;0.758|.	T|T	0.76512|0.76512	-0.2932|-0.2932	10|5	0.72032|.	D|.	0.01|.	-10.5253|-10.5253	18.8688|18.8688	0.92305|0.92305	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	420;545;563|.	B4E0R6;O00410;O00410-3|.	.;IPO5_HUMAN;.|.	V|W	563;545;545;420|547	ENSP00000261574:A563V;ENSP00000350219:A545V;ENSP00000418393:A545V;ENSP00000445126:A420V|.	ENSP00000261574:A563V|.	A|R	+|+	2|1	0|2	IPO5|IPO5	97456521|97456521	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	5.928000|5.928000	0.70088|0.70088	2.525000|2.525000	0.85131|0.85131	0.460000|0.460000	0.39030|0.39030	GCG|CGG		0.378	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271		4	119	0	0	0	0.014758	0	4	119				
MTOR	2475	broad.mit.edu	37	1	11217304	11217305	+	In_Frame_Ins	INS	-	-	TCCTCCCAC			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr1:11217304_11217305insTCCTCCCAC	ENST00000361445.4	-	30	4449_4450	c.4373_4374insGTGGGAGGA	c.(4372-4374)gat>gaGTGGGAGGAt	p.1457_1458insEWE		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1457	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CCACAAGGGCATCCTCCCACTC	0.54																																						ENST00000361445.4																			0				breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(4372-4374)ggc>gGTGGGAGGAgc		mechanistic target of rapamycin (serine/threonine kinase)																																				SO:0001652	inframe_insertion	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11217304_11217305insTCCTCCCAC	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.4365_4373dupGTGGGAGGA	1.37:g.11217305_11217313dupTCCTCCCAC	ENSP00000354558:p.Glu1455_Glu1457dup						p.1458_1459insGRS	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			30	4449_4450	-			1458			FAT.		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	In_Frame_Ins	INS	ENST00000361445.4	37	c.4373_4374insGTGGGAGGA	CCDS127.1																																																																																				0.540	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		8	142						8	142	---	---	---	---
VPS13D	55187	broad.mit.edu	37	1	12336924	12336926	+	In_Frame_Del	DEL	GAT	GAT	-	rs144696813	byFrequency	TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr1:12336924_12336926delGAT	ENST00000358136.3	+	19	3409_3411	c.3279_3281delGAT	c.(3277-3282)tcgatg>tcg	p.M1094del	VPS13D_ENST00000356315.4_In_Frame_Del_p.M1094del	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGTGCCCATCGATGAATTTAGAC	0.379																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(3277-3282)tcg>tc		vacuolar protein sorting 13 homolog D (S. cerevisiae)																																				SO:0001651	inframe_deletion	55187				protein localization			g.chr1:12336924_12336926delGAT	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.3279_3281delGAT	1.37:g.12336924_12336926delGAT	ENSP00000350854:p.Met1094del					VPS13D_ENST00000356315.4_In_Frame_Del_p.SM1093del	p.SM1093del	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	19	3409_3411	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	1093						In_Frame_Del	DEL	ENST00000358136.3	37	c.3279_3281delGAT	CCDS30588.1																																																																																				0.379	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		44	158						44	158	---	---	---	---
COL9A2	1298	broad.mit.edu	37	1	40768483	40768484	+	Splice_Site	INS	-	-	GGAG	rs3831927|rs547665409|rs369338511|rs144651070|rs563535301	byFrequency	TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr1:40768483_40768484insGGAG	ENST00000372748.3	-	30	1700		c.e30-2		COL9A2_ENST00000466267.1_Splice_Site	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2						axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			CCAGTTGCTCTggagggaggga	0.649																																						ENST00000372748.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22						c.e30-2		collagen, type IX, alpha 2																																				SO:0001630	splice_region_variant	1298				axon guidance|skeletal system development	collagen type IX		g.chr1:40768483_40768484insGGAG	M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.1604-2->CTCC	1.37:g.40768488_40768491dupGGAG						COL9A2_ENST00000466267.1_Splice_Site		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)		30	1700	-	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)						B2RMP9	Splice_Site	INS	ENST00000372748.3	37		CCDS450.1																																																																																				0.649	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015764.3	NM_001852	Intron	3	3						3	3	---	---	---	---
TRMT1L	81627	broad.mit.edu	37	1	185112523	185112523	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr1:185112523delT	ENST00000367506.5	-	7	1093	c.825delA	c.(823-825)aaafs	p.K275fs	TRMT1L_ENST00000367504.3_Frame_Shift_Del_p.K119fs	NM_001202423.1|NM_030934.4	NP_001189352.1|NP_112196.3	Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	275	Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}.				adult locomotory behavior (GO:0008344)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						ATTCCAAAGGTTTTCGTTCCT	0.358																																						ENST00000367504.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.(355-357)aafs		tRNA methyltransferase 1 homolog (S. cerevisiae)-like							97.0	106.0	103.0					1																	185112523		2203	4300	6503	SO:0001589	frameshift_variant	81627					intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	g.chr1:185112523delT	AF288399	CCDS1366.1	1q25.2	2012-06-29	2012-06-29	2011-01-24	ENSG00000121486	ENSG00000121486			16782	protein-coding gene	gene with protein product	"""TRM1-like"""	611673	"""chromosome 1 open reading frame 25"", ""TRM1 tRNA methyltransferase 1-like"""	C1orf25		11318611, 17198746	Standard	NM_030934		Approved		uc001grf.4	Q7Z2T5	OTTHUMG00000035389	ENST00000367506.5:c.825delA	1.37:g.185112523delT	ENSP00000356476:p.Lys275fs					TRMT1L_ENST00000367506.5_Frame_Shift_Del_p.K275fs	p.K119fs			Q7Z2T5	TRM1L_HUMAN			7	1096	-			275					Q5TEN0|Q6ZMX0|Q8IWH5|Q8NC68|Q9BZQ1	Frame_Shift_Del	DEL	ENST00000367506.5	37	c.357delA	CCDS1366.1																																																																																				0.358	TRMT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085787.1	NM_030934		26	146						26	146	---	---	---	---
PXK	54899	broad.mit.edu	37	3	58381438	58381438	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr3:58381438delG	ENST00000356151.2	+	9	883	c.774delG	c.(772-774)cagfs	p.Q258fs	PXK_ENST00000463280.1_Frame_Shift_Del_p.Q225fs|PXK_ENST00000536660.1_Frame_Shift_Del_p.Q121fs|PXK_ENST00000302779.5_Frame_Shift_Del_p.Q241fs|PXK_ENST00000383716.3_Frame_Shift_Del_p.Q225fs|PXK_ENST00000479241.1_Frame_Shift_Del_p.Q241fs|PXK_ENST00000484288.1_Frame_Shift_Del_p.Q258fs|PXK_ENST00000383715.4_Frame_Shift_Del_p.Q241fs	NM_017771.3	NP_060241.2			PX domain containing serine/threonine kinase											cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		AGAAGATTCAGGGCCTGGAAC	0.388																																						ENST00000463280.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(673-675)cafs		PX domain containing serine/threonine kinase							75.0	77.0	76.0					3																	58381438		2203	4300	6503	SO:0001589	frameshift_variant	54899				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity	g.chr3:58381438delG	AY274811	CCDS2889.1, CCDS74952.1, CCDS74954.1, CCDS74955.1	3p21.2	2008-02-05			ENSG00000168297	ENSG00000168297			23326	protein-coding gene	gene with protein product		611450					Standard	XM_005265255		Approved	FLJ20335	uc003djz.1	Q7Z7A4	OTTHUMG00000159149	ENST00000356151.2:c.774delG	3.37:g.58381438delG	ENSP00000348472:p.Gln258fs					PXK_ENST00000383715.4_Frame_Shift_Del_p.Q241fs|PXK_ENST00000383716.3_Frame_Shift_Del_p.Q225fs|PXK_ENST00000484288.1_Frame_Shift_Del_p.Q258fs|PXK_ENST00000356151.2_Frame_Shift_Del_p.Q258fs|PXK_ENST00000302779.5_Frame_Shift_Del_p.Q241fs|PXK_ENST00000479241.1_Frame_Shift_Del_p.Q241fs|PXK_ENST00000536660.1_Frame_Shift_Del_p.Q121fs	p.Q225fs			Q7Z7A4	PXK_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)	7	766	+			258			Protein kinase.			Frame_Shift_Del	DEL	ENST00000356151.2	37	c.675delG	CCDS2889.1																																																																																				0.388	PXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353499.1	NM_017771		29	80						29	80	---	---	---	---
SLC15A2	6565	broad.mit.edu	37	3	121647902	121647903	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr3:121647902_121647903insT	ENST00000489711.1	+	16	1803_1804	c.1415_1416insT	c.(1414-1419)aatttgfs	p.L473fs	SLC15A2_ENST00000465060.1_3'UTR|SLC15A2_ENST00000295605.2_Frame_Shift_Ins_p.L442fs	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	473					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	AAATATCACAATTTGTCTCTCT	0.386																																						ENST00000489711.1																			0				NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36						c.(1414-1416)attfs		solute carrier family 15 (oligopeptide transporter), member 2	Cefadroxil(DB01140)																																			SO:0001589	frameshift_variant	6565				protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding	g.chr3:121647902_121647903insT	BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"""Solute carriers"""	10921	protein-coding gene	gene with protein product		602339	"""solute carrier family 15 (H+/peptide transporter), member 2"""			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.1418dupT	3.37:g.121647905_121647905dupT	ENSP00000417085:p.Leu473fs					SLC15A2_ENST00000295605.2_Frame_Shift_Ins_p.I441fs|SLC15A2_ENST00000465060.1_3'UTR	p.I472fs	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN		GBM - Glioblastoma multiforme(114;0.0967)	16	1803_1804	+			472					A8K1A5|B4E2A7	Frame_Shift_Ins	INS	ENST00000489711.1	37	c.1415_1416insT	CCDS3007.1																																																																																				0.386	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355239.1	NM_021082		64	231						64	231	---	---	---	---
TNIK	23043	broad.mit.edu	37	3	170846555	170846555	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr3:170846555delC	ENST00000436636.2	-	16	2065	c.1721delG	c.(1720-1722)agtfs	p.S574fs	TNIK_ENST00000284483.8_Frame_Shift_Del_p.S574fs|TNIK_ENST00000475336.1_Intron|TNIK_ENST00000470834.1_Frame_Shift_Del_p.S545fs|TNIK_ENST00000357327.5_Frame_Shift_Del_p.S545fs|TNIK_ENST00000369326.5_Frame_Shift_Del_p.S545fs|TNIK_ENST00000460047.1_Intron|TNIK_ENST00000341852.6_Intron|TNIK_ENST00000488470.1_Intron|TNIK_ENST00000538048.1_Intron	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	574	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CTGAACTCCACTAATGCTGAA	0.552																																						ENST00000436636.2																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62						c.(1720-1722)atfs		TRAF2 and NCK interacting kinase							62.0	66.0	65.0					3																	170846555		1982	4167	6149	SO:0001589	frameshift_variant	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170846555delC	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.1721delG	3.37:g.170846555delC	ENSP00000399511:p.Ser574fs					TNIK_ENST00000460047.1_Intron|TNIK_ENST00000369326.5_Frame_Shift_Del_p.S545fs|TNIK_ENST00000357327.5_Frame_Shift_Del_p.S545fs|TNIK_ENST00000284483.8_Frame_Shift_Del_p.S574fs|TNIK_ENST00000538048.1_Intron|TNIK_ENST00000488470.1_Intron|TNIK_ENST00000475336.1_Intron|TNIK_ENST00000470834.1_Frame_Shift_Del_p.S545fs|TNIK_ENST00000341852.6_Intron	p.S574fs	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		16	2065	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		574			Mediates interaction with NEDD4.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Frame_Shift_Del	DEL	ENST00000436636.2	37	c.1721delG	CCDS46956.1																																																																																				0.552	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		9	44						9	44	---	---	---	---
SH3PXD2B	285590	broad.mit.edu	37	5	171766891	171766891	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr5:171766891delC	ENST00000311601.5	-	13	1388	c.1218delG	c.(1216-1218)tggfs	p.W406fs	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	406	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCTGAATGTACCACCAGCCAC	0.532																																						ENST00000311601.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(1216-1218)tgfs		SH3 and PX domains 2B							50.0	52.0	51.0					5																	171766891		2203	4300	6503	SO:0001589	frameshift_variant	285590				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding	g.chr5:171766891delC	AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"""KIAA1295"""	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.1218delG	5.37:g.171766891delC	ENSP00000309714:p.Trp406fs					SH3PXD2B_ENST00000519643.1_Intron	p.W406fs	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		13	1388	-	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	406			SH3 3.		B6F0V2|Q9P2Q1	Frame_Shift_Del	DEL	ENST00000311601.5	37	c.1218delG	CCDS34291.1																																																																																				0.532	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372449.1	NM_017963		7	44						7	44	---	---	---	---
CNTLN	54875	broad.mit.edu	37	9	17466109	17466109	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr9:17466109delA	ENST00000380647.3	+	22	3746	c.3662delA	c.(3661-3663)gaafs	p.E1221fs	CNTLN_ENST00000425824.1_Frame_Shift_Del_p.E1221fs|CNTLN_ENST00000262360.5_Frame_Shift_Del_p.E1221fs			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1221					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GAGGAGTTAGAAAAAAAGGTA	0.308																																						ENST00000380647.3																			0				breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(3661-3663)gafs		centlein, centrosomal protein							74.0	70.0	71.0					9																	17466109		1805	4064	5869	SO:0001589	frameshift_variant	54875					centriole|membrane	two-component sensor activity	g.chr9:17466109delA	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.3662delA	9.37:g.17466109delA	ENSP00000370021:p.Glu1221fs					CNTLN_ENST00000425824.1_Frame_Shift_Del_p.E1221fs|CNTLN_ENST00000262360.5_Frame_Shift_Del_p.E1221fs	p.E1221fs			Q9NXG0	CNTLN_HUMAN		GBM - Glioblastoma multiforme(50;6.14e-10)	22	3746	+			1221					A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Frame_Shift_Del	DEL	ENST00000380647.3	37	c.3662delA	CCDS43789.1																																																																																				0.308	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		14	68						14	68	---	---	---	---
GAPVD1	26130	broad.mit.edu	37	9	128099797	128099797	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr9:128099797delT	ENST00000495955.1	+	17	3094	c.2804delT	c.(2803-2805)attfs	p.I935fs	GAPVD1_ENST00000470056.1_Frame_Shift_Del_p.I935fs|GAPVD1_ENST00000265956.4_Frame_Shift_Del_p.I909fs|GAPVD1_ENST00000394083.2_Frame_Shift_Del_p.I914fs|GAPVD1_ENST00000297933.6_Frame_Shift_Del_p.I935fs|GAPVD1_ENST00000394105.2_Frame_Shift_Del_p.I962fs|GAPVD1_ENST00000394104.2_Frame_Shift_Del_p.I935fs|GAPVD1_ENST00000312123.9_Frame_Shift_Del_p.I914fs			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	935					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GCTGCAGCCATTGGTGCTACT	0.522																																						ENST00000470056.1																			0				central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2803-2805)atfs		GTPase activating protein and VPS9 domains 1							74.0	72.0	72.0					9																	128099797		2203	4300	6503	SO:0001589	frameshift_variant	26130				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr9:128099797delT		CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.2804delT	9.37:g.128099797delT	ENSP00000419063:p.Ile935fs					GAPVD1_ENST00000394104.2_Frame_Shift_Del_p.I935fs|GAPVD1_ENST00000297933.6_Frame_Shift_Del_p.I935fs|GAPVD1_ENST00000495955.1_Frame_Shift_Del_p.I935fs|GAPVD1_ENST00000265956.4_Frame_Shift_Del_p.I909fs|GAPVD1_ENST00000312123.9_Frame_Shift_Del_p.I914fs|GAPVD1_ENST00000394105.2_Frame_Shift_Del_p.I962fs|GAPVD1_ENST00000394083.2_Frame_Shift_Del_p.I914fs	p.I935fs			Q14C86	GAPD1_HUMAN			15	2964	+			935					A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Frame_Shift_Del	DEL	ENST00000495955.1	37	c.2804delT																																																																																					0.522	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			17	81						17	81	---	---	---	---
MAPKAP1	79109	broad.mit.edu	37	9	128246809	128246810	+	Frame_Shift_Del	DEL	CT	CT	-	rs527756409		TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr9:128246809_128246810delCT	ENST00000373498.1	-	8	1187_1188	c.1119_1120delAG	c.(1117-1122)acagtafs	p.V374fs	MAPKAP1_ENST00000265960.3_Frame_Shift_Del_p.V374fs|MAPKAP1_ENST00000350766.3_Frame_Shift_Del_p.V338fs|MAPKAP1_ENST00000373497.5_Frame_Shift_Del_p.V87fs|MAPKAP1_ENST00000373511.2_Intron|MAPKAP1_ENST00000394063.1_Frame_Shift_Del_p.V182fs|MAPKAP1_ENST00000373503.3_Frame_Shift_Del_p.V182fs			Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	374					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of Ras protein signal transduction (GO:0046580)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein kinase binding (GO:0019901)|Ras GTPase binding (GO:0017016)			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						ATATCCTGTACTGTGGCTATGT	0.47																																						ENST00000265960.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						c.(1117-1122)actafs		mitogen-activated protein kinase associated protein 1																																				SO:0001589	frameshift_variant	79109				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding	g.chr9:128246809_128246810delCT	M37191	CCDS6864.1, CCDS35139.1, CCDS35140.1, CCDS35141.1, CCDS48020.1	9q34.11	2008-02-05			ENSG00000119487	ENSG00000119487			18752	protein-coding gene	gene with protein product	"""stress-activated protein kinase-interacting 1"""	610558				15363842	Standard	NM_001006620		Approved	MGC2745, SIN1, MIP1	uc004bpv.3	Q9BPZ7	OTTHUMG00000020683	ENST00000373498.1:c.1119_1120delAG	9.37:g.128246809_128246810delCT	ENSP00000362597:p.Val374fs					MAPKAP1_ENST00000373511.2_Intron|MAPKAP1_ENST00000350766.3_Frame_Shift_Del_p.TV337fs|MAPKAP1_ENST00000373503.3_Frame_Shift_Del_p.TV181fs|MAPKAP1_ENST00000373498.1_Frame_Shift_Del_p.TV373fs|MAPKAP1_ENST00000373497.5_Frame_Shift_Del_p.TV86fs|MAPKAP1_ENST00000394063.1_Frame_Shift_Del_p.TV181fs	p.TV373fs	NM_001006617.1	NP_001006618.1	Q9BPZ7	SIN1_HUMAN			9	1451_1452	-			373					A8K1Z5|B1AMA4|B7Z309|Q00426|Q5JSV5|Q5JSV6|Q5JSV9|Q658R0|Q699U1|Q699U2|Q699U3|Q699U4|Q6GVJ0|Q6GVJ1|Q6GVJ2	Frame_Shift_Del	DEL	ENST00000373498.1	37	c.1119_1120delAG	CCDS35140.1																																																																																				0.470	MAPKAP1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054092.1			10	91						10	91	---	---	---	---
PLXDC2	84898	broad.mit.edu	37	10	20465934	20465936	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr10:20465934_20465936delGAA	ENST00000377252.4	+	8	1731_1733	c.890_892delGAA	c.(889-894)cgaaga>cga	p.297_298RR>R	PLXDC2_ENST00000377242.3_In_Frame_Del_p.248_249RR>R|PLXDC2_ENST00000377238.2_3'UTR	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	297					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						CTAGATGTTCGAAGAAGAACAAT	0.32																																						ENST00000377252.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						c.(889-894)cga>c		plexin domain containing 2																																				SO:0001651	inframe_deletion	84898					integral to membrane		g.chr10:20465934_20465936delGAA	AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"""tumor endothelial marker 7-related precursor"""	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.890_892delGAA	10.37:g.20465940_20465942delGAA	ENSP00000366460:p.Arg299del					PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_In_Frame_Del_p.RR248del	p.RR297del	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN			8	1731_1733	+			297					Q96E59|Q96PD9|Q96SU9	In_Frame_Del	DEL	ENST00000377252.4	37	c.890_892delGAA	CCDS7132.1																																																																																				0.320	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047101.2	NM_032812		14	101						14	101	---	---	---	---
FAM83F	113828	broad.mit.edu	37	22	40417856	40417856	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr22:40417856delA	ENST00000333407.6	+	4	1436	c.1342delA	c.(1342-1344)aagfs	p.K448fs	FAM83F_ENST00000473717.1_Frame_Shift_Del_p.K280fs	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	448										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						TCGCCGAGCCAAGAGGCCTGC	0.667																																						ENST00000333407.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						c.(1342-1344)agfs		family with sequence similarity 83, member F							29.0	36.0	34.0					22																	40417856		2181	4289	6470	SO:0001589	frameshift_variant	113828							g.chr22:40417856delA		CCDS14000.2	22q13.1	2006-03-22			ENSG00000133477	ENSG00000133477			25148	protein-coding gene	gene with protein product						12477932	Standard	NM_138435		Approved		uc003ayk.1	Q8NEG4	OTTHUMG00000150688	ENST00000333407.6:c.1342delA	22.37:g.40417856delA	ENSP00000330432:p.Lys448fs					FAM83F_ENST00000473717.1_3'UTR	p.K448fs	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN			4	1436	+			448					Q96FD6	Frame_Shift_Del	DEL	ENST00000333407.6	37	c.1342delA	CCDS14000.2																																																																																				0.667	FAM83F-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319624.3	NM_138435		17	82						17	82	---	---	---	---
SRPX	8406	broad.mit.edu	37	X	38079976	38079978	+	In_Frame_Del	DEL	GCA	GCA	-	rs35523939|rs72249350|rs139109693		TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chrX:38079976_38079978delGCA	ENST00000378533.3	-	1	174_176	c.68_70delTGC	c.(67-72)ctgcgc>cgc	p.L23del	SRPX_ENST00000432886.2_In_Frame_Del_p.L23del|RP13-43E11.1_ENST00000423919.1_RNA|SRPX_ENST00000544439.1_In_Frame_Del_p.L23del|SRPX_ENST00000343800.6_Intron|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000538295.1_In_Frame_Del_p.L23del	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	23			Missing. {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:8634709, ECO:0000269|PubMed:9162095}.		autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.L23delL(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GGCGGGACGCgcagcagcagcag	0.729											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		636	0.168477	0.1657	0.1398	3775	,	,		8591	0.0129		0.2028	False		,,,				2504	0.1053					ENST00000378533.3																			2	Deletion - In frame(2)	p.L23delL(2)	prostate(2)	autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						c.(67-72)cgc>c		sushi-repeat containing protein, X-linked																																				SO:0001651	inframe_deletion	8406				cell adhesion	cell surface|membrane		g.chrX:38079976_38079978delGCA	U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"""sushi-repeat-containing protein, X chromosome"", ""sushi-repeat-containing protein, X-linked"""			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.68_70delTGC	X.37:g.38079985_38079987delGCA	ENSP00000367794:p.Leu23del		OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	875	TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000432886.2_In_Frame_Del_p.LR23del|SRPX_ENST00000538295.1_In_Frame_Del_p.LR23del|SRPX_ENST00000544439.1_In_Frame_Del_p.LR23del|SRPX_ENST00000343800.6_Intron	p.LR23del	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN			1	174_176	-			23		Missing.			A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	In_Frame_Del	DEL	ENST00000378533.3	37	c.68_70delTGC	CCDS14245.1																																																																																				0.729	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056243.1	NM_006307		4	7						4	7	---	---	---	---
GPRASP1	9737	broad.mit.edu	37	X	101911485	101911487	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chrX:101911485_101911487delGAA	ENST00000361600.5	+	5	3445_3447	c.2644_2646delGAA	c.(2644-2646)gaadel	p.E884del	GPRASP1_ENST00000537097.1_In_Frame_Del_p.E884del|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_In_Frame_Del_p.E884del|GPRASP1_ENST00000444152.1_In_Frame_Del_p.E884del	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	884	Glu-rich.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GTTCTGGCCTGAAGAAGAAGCCA	0.527																																						ENST00000537097.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(2644-2646)del		G protein-coupled receptor associated sorting protein 1																																				SO:0001651	inframe_deletion	9737					cytoplasm	protein binding	g.chrX:101911485_101911487delGAA	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.2644_2646delGAA	X.37:g.101911491_101911493delGAA	ENSP00000355146:p.Glu884del					RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_In_Frame_Del_p.E884del|GPRASP1_ENST00000444152.1_In_Frame_Del_p.E884del|GPRASP1_ENST00000361600.5_In_Frame_Del_p.E884del	p.E884del	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN			6	3457_3459	+			884			Glu-rich.		O43168|Q96LA1	In_Frame_Del	DEL	ENST00000361600.5	37	c.2644_2646delGAA	CCDS35352.1																																																																																				0.527	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		39	147						39	147	---	---	---	---
