#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
ESPNP	284729	broad.mit.edu	37	1	17017734	17017734	+	RNA	SNP	C	C	T	rs12561805	byFrequency	TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr1:17017734C>T	ENST00000492551.1	-	0	1993					NR_026567.1				espin pseudogene																		CAGCTTCTTCCGCAGGAGGTC	0.647													c|||	1453	0.290136	0.1589	0.3184	5008	,	,		38815	0.4425		0.2913	False		,,,				2504	0.2894					uc001azn.1																			0											c.(1879-1881)cGg>cAg		Homo sapiens espin pseudogene (ESPNP), non-coding RNA.																																						284729							g.chr1:17017734C>T	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17017734C>T							p.R627Q							10	1994	-									Missense_Mutation	SNP	ENST00000492551.1	37	c.1880G>A																																																																																					0.647	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1		
SLC30A7	148867	broad.mit.edu	37	1	101379278	101379278	+	Missense_Mutation	SNP	G	G	T	rs371349673		TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr1:101379278G>T	ENST00000370112.4	+	6	758	c.571G>T	c.(571-573)Gat>Tat	p.D191Y	SLC30A7_ENST00000357650.4_Missense_Mutation_p.D191Y	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	Q8NEW0	ZNT7_HUMAN	solute carrier family 30 (zinc transporter), member 7	191	His-rich loop.				cellular protein metabolic process (GO:0044267)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	cation transmembrane transporter activity (GO:0008324)			endometrium(3)|large_intestine(2)|lung(10)	15		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		TGGCCATGTCGATCATTGCCA	0.443																																					NSCLC(91;473 1491 3102 16827 21633)	uc001dtn.2																			0				endometrium(3)|large_intestine(2)|lung(10)	15						c.(571-573)Gat>Tat		Homo sapiens solute carrier family 30 (zinc transporter), member 7 (SLC30A7), transcript variant 2, mRNA.							167.0	131.0	143.0					1																	101379278		2203	4300	6503	SO:0001583	missense	148867				zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding	g.chr1:101379278G>T	AF233345	CCDS776.1	1p21.1	2013-05-22			ENSG00000162695	ENSG00000162695		"""Solute carriers"""	19306	protein-coding gene	gene with protein product		611149				12446736	Standard	NM_133496		Approved	ZnTL2, ZNT7	uc001dto.2	Q8NEW0	OTTHUMG00000011815	ENST00000370112.4:c.571G>T	1.37:g.101379278G>T	ENSP00000359130:p.Asp191Tyr					SLC30A7_uc001dto.2_Missense_Mutation_p.D191Y	p.D191Y	NM_001144884	NP_598003	Q8NEW0	ZNT7_HUMAN		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)	5	758	+		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)	191			His-rich loop.		B2R949|D3DT61|Q8TCH2	Missense_Mutation	SNP	ENST00000370112.4	37	c.571G>T	CCDS776.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.443698	0.43429	.	.	ENSG00000162695	ENST00000370112;ENST00000357650	T;T	0.67523	-0.27;-0.27	5.53	5.53	0.82687	.	0.192773	0.53938	D	0.000051	T	0.53029	0.1771	M	0.70275	2.135	0.35725	D	0.817449	P	0.42078	0.77	B	0.36464	0.225	T	0.66081	-0.6012	10	0.59425	D	0.04	-13.7028	12.7636	0.57378	0.0753:0.0:0.9247:0.0	.	191	Q8NEW0	ZNT7_HUMAN	Y	191	ENSP00000359130:D191Y;ENSP00000350278:D191Y	ENSP00000350278:D191Y	D	+	1	0	SLC30A7	101151866	1.000000	0.71417	1.000000	0.80357	0.499000	0.33736	6.168000	0.71908	2.600000	0.87896	0.585000	0.79938	GAT		0.443	SLC30A7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032711.1	NM_133496	
NPL	80896	broad.mit.edu	37	1	182787959	182787959	+	Missense_Mutation	SNP	T	T	G			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr1:182787959T>G	ENST00000367553.1	+	9	662	c.618T>G	c.(616-618)agT>agG	p.S206R	NPL_ENST00000258317.2_Missense_Mutation_p.S206R|NPL_ENST00000463899.1_3'UTR|NPL_ENST00000367552.2_Intron|NPL_ENST00000367555.1_Intron|NPL_ENST00000367554.3_Missense_Mutation_p.S187R	NM_001200056.1|NM_030769.2	NP_001186985.1|NP_110396.1	Q9BXD5	NPL_HUMAN	N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)	206					carbohydrate metabolic process (GO:0005975)|N-acetylneuraminate catabolic process (GO:0019262)	cytoplasm (GO:0005737)	N-acetylneuraminate lyase activity (GO:0008747)			breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1)	15						AACTGTTGAGTGCTCTGGTGA	0.393																																						uc009wyb.3																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1)	15						c.(616-618)agT>agG		Homo sapiens N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase) (NPL), transcript variant 1, mRNA.							80.0	87.0	85.0					1																	182787959		2203	4300	6503	SO:0001583	missense	80896				carbohydrate metabolic process	cytoplasm	N-acetylneuraminate lyase activity	g.chr1:182787959T>G	AF338436	CCDS1350.1, CCDS55666.1, CCDS55667.1, CCDS72990.1	1q25	2010-11-25	2003-09-16	2003-09-17	ENSG00000135838	ENSG00000135838	4.1.3.3		16781	protein-coding gene	gene with protein product	"""dihydrodipicolinate synthetase homolog 1 (E. coli)"""	611412	"""chromosome 1 open reading frame 13"""	C1orf13		11318611	Standard	NM_001200056		Approved	NPL1, DHDPS1	uc009wyb.3	Q9BXD5	OTTHUMG00000035321	ENST00000367553.1:c.618T>G	1.37:g.182787959T>G	ENSP00000356524:p.Ser206Arg					NPL_uc010pnx.2_Intron|NPL_uc010pny.2_Non-coding_Transcript|NPL_uc001gpp.4_Missense_Mutation_p.S206R|NPL_uc021pfz.1_Missense_Mutation_p.S206R|NPL_uc009wyc.3_Intron|NPL_uc001gpo.2_Missense_Mutation_p.S187R	p.S206R	NM_030769	NP_110396	Q9BXD5	NPL_HUMAN			9	1046	+			206					B2R839|Q4G0Q8|Q4G0Z2|Q64L88|Q6PEL0	Missense_Mutation	SNP	ENST00000367553.1	37	c.618T>G	CCDS1350.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.37|18.37	3.609913|3.609913	0.66558|0.66558	.|.	.|.	ENSG00000135838|ENSG00000135838	ENST00000445965|ENST00000367554;ENST00000367553;ENST00000258317	.|D;D;D	.|0.82803	.|-1.65;-1.65;-1.65	5.48|5.48	3.19|3.19	0.36642|0.36642	.|Aldolase-type TIM barrel (1);	.|0.128904	.|0.64402	.|D	.|0.000001	D|D	0.86863|0.86863	0.6035|0.6035	M|M	0.67397|0.67397	2.05|2.05	0.42876|0.42876	D|D	0.994159|0.994159	.|D;D;D	.|0.71674	.|0.973;0.979;0.998	.|P;P;P	.|0.62184	.|0.773;0.763;0.899	D|D	0.85336|0.85336	0.1093|0.1093	6|10	0.27082|0.72032	T|D	0.32|0.01	-11.4397|-11.4397	8.0076|8.0076	0.30334|0.30334	0.0:0.1589:0.0:0.8411|0.0:0.1589:0.0:0.8411	.|.	.|206;206;187	.|Q9BXD5;Q9BXD5-3;Q9BXD5-2	.|NPL_HUMAN;.;.	G|R	122|187;206;206	.|ENSP00000356525:S187R;ENSP00000356524:S206R;ENSP00000258317:S206R	ENSP00000414118:C122G|ENSP00000258317:S206R	C|S	+|+	1|3	0|2	NPL|NPL	181054582|181054582	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.963000|0.963000	0.63663|0.63663	0.798000|0.798000	0.27014|0.27014	0.394000|0.394000	0.25230|0.25230	0.533000|0.533000	0.62120|0.62120	TGC|AGT		0.393	NPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085463.1	NM_030769	
AHCTF1	25909	broad.mit.edu	37	1	247024397	247024397	+	Silent	SNP	G	G	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr1:247024397G>A	ENST00000391829.2	-	29	4059	c.3936C>T	c.(3934-3936)atC>atT	p.I1312I	AHCTF1_ENST00000326225.3_Silent_p.I1321I|AHCTF1_ENST00000366508.1_Silent_p.I1347I|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1312	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CATCGGATGTGATTGAAACAC	0.463																																					Colon(145;197 1800 4745 15099 26333)	uc001ibv.2																			0				NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74						c.(3961-3963)atC>atT		Homo sapiens AT hook containing transcription factor 1 (AHCTF1), mRNA.							74.0	65.0	68.0					1																	247024397		2203	4300	6503	SO:0001819	synonymous_variant	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247024397G>A		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.3936C>T	1.37:g.247024397G>A						AHCTF1_uc009xgs.1_Silent_p.I173I|AHCTF1_uc001ibw.1_Non-coding_Transcript	p.I1321I	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		28	4060	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	1312			Necessary for nuclear localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Silent	SNP	ENST00000391829.2	37	c.3963C>T																																																																																					0.463	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446	
NLRP3	114548	broad.mit.edu	37	1	247586553	247586553	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr1:247586553C>T	ENST00000336119.3	+	2	1051	c.305C>T	c.(304-306)tCg>tTg	p.S102L	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.S102L|NLRP3_ENST00000366496.2_Missense_Mutation_p.S102L|NLRP3_ENST00000348069.2_Missense_Mutation_p.S102L|NLRP3_ENST00000366497.2_Missense_Mutation_p.S102L|NLRP3_ENST00000391827.2_Missense_Mutation_p.S102L	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	102					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.S102L(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GCACGTGTTTCGAATCCCACT	0.403																																						uc001icr.3																			1	Substitution - Missense(1)	p.S102L(2)|p.S102S(1)	large_intestine(1)	NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(304-306)tCg>tTg		Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.							207.0	199.0	201.0					1																	247586553		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247586553C>T	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.305C>T	1.37:g.247586553C>T	ENSP00000337383:p.Ser102Leu					NLRP3_uc001ics.3_Missense_Mutation_p.S102L|NLRP3_uc001icu.3_Missense_Mutation_p.S102L|NLRP3_uc001icw.3_Missense_Mutation_p.S102L|NLRP3_uc001icv.3_Missense_Mutation_p.S102L|NLRP3_uc010pyw.2_Missense_Mutation_p.S100L|NLRP3_uc001ict.1_Missense_Mutation_p.S100L	p.S102L	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		3	443	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	102					B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.305C>T	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.252959	0.22965	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.74947	-0.81;-0.83;-0.81;-0.89;-0.83;-0.86	2.86	2.86	0.33363	.	0.690319	0.12740	N	0.443110	T	0.56411	0.1983	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B	0.33266	0.01;0.103;0.404;0.036;0.282	B;B;B;B;B	0.18871	0.001;0.01;0.023;0.004;0.01	T	0.43669	-0.9377	10	0.30854	T	0.27	.	9.3943	0.38392	0.0:1.0:0.0:0.0	.	102;102;102;102;102	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	L	102	ENSP00000375704:S102L;ENSP00000355453:S102L;ENSP00000337383:S102L;ENSP00000294752:S102L;ENSP00000355452:S102L;ENSP00000375703:S102L	ENSP00000337383:S102L	S	+	2	0	NLRP3	245653176	0.006000	0.16342	0.013000	0.15412	0.008000	0.06430	2.040000	0.41203	1.888000	0.54679	0.655000	0.94253	TCG		0.403	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895	
OR9I1	219954	broad.mit.edu	37	11	57886023	57886023	+	Missense_Mutation	SNP	T	T	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr11:57886023T>A	ENST00000302610.1	-	1	893	c.894A>T	c.(892-894)aaA>aaT	p.K298N	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				TGAAGGCGTCTTTTACATCTT	0.438																																						uc001nml.1																			0				endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23						c.(892-894)aaA>aaT		Homo sapiens olfactory receptor, family 9, subfamily I, member 1 (OR9I1), mRNA.							125.0	129.0	128.0					11																	57886023		2201	4296	6497	SO:0001583	missense	219954				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57886023T>A	AB065733	CCDS31542.1	11q12.1	2012-08-09			ENSG00000172377	ENSG00000172377		"""GPCR / Class A : Olfactory receptors"""	14718	protein-coding gene	gene with protein product							Standard	NM_001005211		Approved		uc021qjl.1	Q8NGQ6	OTTHUMG00000167404	ENST00000302610.1:c.894A>T	11.37:g.57886023T>A	ENSP00000302606:p.Lys298Asn					OR9Q1_uc001nmj.3_Intron	p.K298N	NM_001005211	NP_001005211	Q8NGQ6	OR9I1_HUMAN			0	894	-		Breast(21;0.0589)	298					Q6IFH0|Q96RA8	Missense_Mutation	SNP	ENST00000302610.1	37	c.894A>T	CCDS31542.1	.	.	.	.	.	.	.	.	.	.	T	13.10	2.137158	0.37728	.	.	ENSG00000172377	ENST00000302610	T	0.40756	1.02	4.97	-5.24	0.02789	.	0.279947	0.25347	N	0.031327	T	0.33585	0.0868	M	0.66297	2.02	0.09310	N	0.999998	B	0.11235	0.004	B	0.09377	0.004	T	0.24977	-1.0145	10	0.66056	D	0.02	-8.5288	8.9249	0.35634	0.1097:0.4847:0.0:0.4056	.	298	Q8NGQ6	OR9I1_HUMAN	N	298	ENSP00000302606:K298N	ENSP00000302606:K298N	K	-	3	2	OR9I1	57642599	0.000000	0.05858	0.017000	0.16124	0.006000	0.05464	-2.295000	0.01143	-1.118000	0.02961	-0.456000	0.05471	AAA		0.438	OR9I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394539.1	NM_001005211	
TEX40	25858	broad.mit.edu	37	11	64070987	64070987	+	Missense_Mutation	SNP	C	C	T	rs376949802		TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr11:64070987C>T	ENST00000328404.6	+	3	406	c.386C>T	c.(385-387)gCg>gTg	p.A129V	RP11-783K16.10_ENST00000539086.1_RNA|ESRRA_ENST00000405666.1_5'Flank|TEX40_ENST00000539943.1_Missense_Mutation_p.A87V|ESRRA_ENST00000406310.1_5'Flank|ESRRA_ENST00000000442.6_5'Flank	NM_001039496.1	NP_001034585.1	Q9NTU4	TEX40_HUMAN	testis expressed 40	129					cell differentiation (GO:0030154)|male meiosis (GO:0007140)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)											CTCAATATTGCGAAGCACATG	0.552																																						uc009ypm.3																			0				kidney(1)	1						c.(385-387)gCg>gTg		Homo sapiens chromosome 11 open reading frame 20 (C11orf20), mRNA.		C	VAL/ALA	0,4032		0,0,2016	60.0	62.0	61.0		386	-7.5	0.0	11		61	2,8346		0,2,4172	no	missense	C11orf20	NM_001039496.1	64	0,2,6188	TT,TC,CC		0.024,0.0,0.0162	possibly-damaging	129/201	64070987	2,12378	2016	4174	6190	SO:0001583	missense	25858				cell differentiation|spermatogenesis	cytoplasm		g.chr11:64070987C>T			11q13.1	2013-01-11	2013-01-11	2013-01-11	ENSG00000219435	ENSG00000219435			19231	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 20"""	C11orf20			Standard	NM_001039496		Approved	DKFZP566E164	uc009ypm.3	Q9NTU4	OTTHUMG00000167820	ENST00000328404.6:c.386C>T	11.37:g.64070987C>T	ENSP00000330877:p.Ala129Val					KCNK4_uc001nzm.4_Non-coding_Transcript|ESRRA_uc001nzq.1_5'Flank|ESRRA_uc001nzr.1_5'Flank|ESRRA_uc001nzs.1_5'Flank	p.A129V	NM_001039496	NP_001034585	Q9NTU4	CK020_HUMAN			2	1451	+			129						Missense_Mutation	SNP	ENST00000328404.6	37	c.386C>T		.	.	.	.	.	.	.	.	.	.	C	5.606	0.296518	0.10622	0.0	2.4E-4	ENSG00000219435	ENST00000328404;ENST00000539943	T;T	0.45276	0.9;0.9	3.76	-7.51	0.01346	.	.	.	.	.	T	0.13372	0.0324	N	0.14661	0.345	0.09310	N	1	P	0.38863	0.65	B	0.26094	0.066	T	0.16453	-1.0402	9	0.22706	T	0.39	0.4098	2.1101	0.03701	0.1163:0.1885:0.23:0.4652	.	129	Q9NTU4	CK020_HUMAN	V	129;87	ENSP00000330877:A129V;ENSP00000443917:A87V	ENSP00000330877:A129V	A	+	2	0	C11orf20	63827563	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.760000	0.01806	-1.949000	0.01031	-0.224000	0.12420	GCG		0.552	TEX40-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001039496	
OR10G8	219869	broad.mit.edu	37	11	123901241	123901243	+	In_Frame_Del	DEL	AGT	AGT	-			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr11:123901241_123901243delAGT	ENST00000431524.1	+	1	945_947	c.912_914delAGT	c.(910-915)aaagta>aaa	p.V305del		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGAAAGACAAAGTAGCACATTCT	0.448																																						uc001pzp.1																			0				breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(910-915)aaagta>aaa		Homo sapiens olfactory receptor, family 10, subfamily G, member 8 (OR10G8), mRNA.																																				SO:0001651	inframe_deletion	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123901241_123901243delAGT	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.912_914delAGT	11.37:g.123901241_123901243delAGT	ENSP00000389072:p.Val305del						p.V305del	NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	0	912_914	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	305					B2RNJ3|Q6IEV2	In_Frame_Del	DEL	ENST00000431524.1	37	c.912_914delAGT	CCDS31704.1																																																																																				0.448	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464	
KIRREL3	84623	broad.mit.edu	37	11	126299112	126299112	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr11:126299112G>A	ENST00000525144.2	-	15	2017	c.1768C>T	c.(1768-1770)Cgg>Tgg	p.R590W	KIRREL3_ENST00000416561.2_Missense_Mutation_p.R57W|KIRREL3_ENST00000529097.2_Missense_Mutation_p.R578W	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	590					hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R590R(1)|p.R549R(1)		central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TCACCCTCCCGACCAGAGGCT	0.488																																						uc001qea.3																			2	Substitution - coding silent(2)	p.R590R(1)|p.R549R(1)	lung(2)	central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29						c.(1768-1770)Cgg>Tgg		Homo sapiens kin of IRRE like 3 (Drosophila) (KIRREL3), transcript variant 1, mRNA.							85.0	94.0	91.0					11																	126299112		1973	4152	6125	SO:0001583	missense	84623				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding	g.chr11:126299112G>A	AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.1768C>T	11.37:g.126299112G>A	ENSP00000435466:p.Arg590Trp					KIRREL3_uc001qeb.3_Missense_Mutation_p.R578W|ST3GAL4_uc001qdx.1_Intron	p.R590W	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)	14	2129	-	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)	590					Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Missense_Mutation	SNP	ENST00000525144.2	37	c.1768C>T	CCDS53723.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.289320	0.59976	.	.	ENSG00000149571	ENST00000525144;ENST00000529097;ENST00000416561	T;T;D	0.81659	-0.95;-0.7;-1.52	5.66	3.57	0.40892	.	0.068700	0.56097	D	0.000025	D	0.85839	0.5790	L	0.50333	1.59	0.46849	D	0.999221	D;D	0.89917	1.0;1.0	P;D	0.76071	0.874;0.987	D	0.87072	0.2160	10	0.72032	D	0.01	-14.6566	13.4882	0.61379	0.0:0.0:0.5678:0.4322	.	578;590	E9PRX9;Q8IZU9	.;KIRR3_HUMAN	W	590;578;57	ENSP00000435466:R590W;ENSP00000434081:R578W;ENSP00000408692:R57W	ENSP00000408692:R57W	R	-	1	2	KIRREL3	125804322	0.993000	0.37304	0.972000	0.41901	0.614000	0.37383	2.095000	0.41729	1.361000	0.45981	0.561000	0.74099	CGG		0.488	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531	
TAS2R20	259295	broad.mit.edu	37	12	11150018	11150018	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr12:11150018C>G	ENST00000538986.1	-	1	456	c.457G>C	c.(457-459)Gtg>Ctg	p.V153L	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	153					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						TCTGTCCACACATTTATATAC	0.398																																						uc001qzm.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(457-459)Gtg>Ctg		Homo sapiens taste receptor, type 2, member 20 (TAS2R20), mRNA.							164.0	145.0	151.0					12																	11150018		2203	4300	6503	SO:0001583	missense	259295				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11150018C>G	AX097732, AF494236	CCDS8639.1	12p13.2	2012-08-22			ENSG00000255837	ENSG00000255837		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19109	protein-coding gene	gene with protein product		613962	"""taste receptor, type 2, member 49"""	TAS2R49			Standard	NM_176889		Approved	T2R20, T2R56	uc001qzm.2	P59543	OTTHUMG00000162695	ENST00000538986.1:c.457G>C	12.37:g.11150018C>G	ENSP00000441624:p.Val153Leu					PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	p.V153L	NM_176889	NP_795370	P59543	T2R20_HUMAN			0	457	-			153					P59549|Q2HIZ4|Q496D8|Q645X9	Missense_Mutation	SNP	ENST00000538986.1	37	c.457G>C	CCDS8639.1	.	.	.	.	.	.	.	.	.	.	C	7.558	0.664163	0.14710	.	.	ENSG00000255837	ENST00000538986	T	0.38560	1.13	2.93	-3.48	0.04739	.	2.512010	0.02062	U	0.050837	T	0.35335	0.0928	L	0.45581	1.43	0.09310	N	1	B	0.14012	0.009	B	0.23852	0.049	T	0.18304	-1.0341	10	0.37606	T	0.19	.	5.3003	0.15773	0.0:0.4561:0.1563:0.3876	.	153	P59543	T2R20_HUMAN	L	153	ENSP00000441624:V153L	ENSP00000441624:V153L	V	-	1	0	TAS2R20	11041285	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.558000	0.05978	-0.895000	0.03920	-0.229000	0.12294	GTG		0.398	TAS2R20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370130.2	NM_176889	
EPS8	2059	broad.mit.edu	37	12	15807133	15807133	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr12:15807133T>C	ENST00000281172.5	-	13	1632	c.1196A>G	c.(1195-1197)aAt>aGt	p.N399S	EPS8_ENST00000543523.1_Missense_Mutation_p.N399S|EPS8_ENST00000543612.1_Missense_Mutation_p.N399S|EPS8_ENST00000540613.1_Missense_Mutation_p.N139S|EPS8_ENST00000542903.1_Missense_Mutation_p.N139S	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	399	PH; second part.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		TTCATCACCATTGACAGTATA	0.418																																						uc009zif.3																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(1195-1197)aAt>aGt		Homo sapiens epidermal growth factor receptor pathway substrate 8 (EPS8), mRNA.							130.0	109.0	116.0					12																	15807133		2203	4300	6503	SO:0001583	missense	2059				cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity	g.chr12:15807133T>C	U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.1196A>G	12.37:g.15807133T>C	ENSP00000281172:p.Asn399Ser					EPS8_uc001rdb.3_Missense_Mutation_p.N399S|EPS8_uc009zig.3_Missense_Mutation_p.N139S|EPS8_uc010shv.2_Missense_Mutation_p.N139S	p.N399S	NM_004447	NP_004438	Q12929	EPS8_HUMAN		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)	12	1290	-		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)	399			PH; second part.		A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Missense_Mutation	SNP	ENST00000281172.5	37	c.1196A>G	CCDS31753.1	.	.	.	.	.	.	.	.	.	.	T	7.229	0.598859	0.13939	.	.	ENSG00000151491	ENST00000543523;ENST00000281172;ENST00000543612;ENST00000540613;ENST00000542903;ENST00000543223	T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86	4.66	-8.82	0.00810	.	0.536822	0.19874	N	0.104140	T	0.10508	0.0257	N	0.16790	0.44	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.06215	-1.0839	10	0.35671	T	0.21	-5.8928	9.4689	0.38831	0.0:0.3933:0.3049:0.3017	.	399	Q12929	EPS8_HUMAN	S	399;399;399;139;139;399	ENSP00000441867:N399S;ENSP00000281172:N399S;ENSP00000442388:N399S;ENSP00000441888:N139S;ENSP00000437806:N139S	ENSP00000281172:N399S	N	-	2	0	EPS8	15698400	0.000000	0.05858	0.000000	0.03702	0.796000	0.44982	-1.031000	0.03578	-1.908000	0.01086	-0.456000	0.05471	AAT		0.418	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1		
PA2G4	5036	broad.mit.edu	37	12	56501039	56501039	+	Splice_Site	SNP	A	A	G			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr12:56501039A>G	ENST00000303305.6	+	4	811	c.392A>G	c.(391-393)cAg>cGg	p.Q131R	PA2G4_ENST00000552766.1_Splice_Site_p.Q131R|RP11-603J24.9_ENST00000548861.1_Splice_Site_p.Q112R|RP11-603J24.17_ENST00000548595.1_RNA	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	131					cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of translation (GO:0006417)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			GATGTAGCTCAGGTAGGTGGC	0.488																																						uc001sjm.3																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12						c.e4+1		Homo sapiens proliferation-associated 2G4, 38kDa (PA2G4), mRNA.							234.0	210.0	218.0					12																	56501039		2203	4300	6503	SO:0001630	splice_region_variant	5036				cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding	g.chr12:56501039A>G	U59435, BC007561	CCDS8902.1	12q13.2	2008-09-05	2002-08-29		ENSG00000170515	ENSG00000170515			8550	protein-coding gene	gene with protein product		602145	"""proliferation-associated 2G4, 38kD"""			9345902	Standard	NM_006191		Approved		uc001sjm.3	Q9UQ80	OTTHUMG00000170173	ENST00000303305.6:c.393+1A>G	12.37:g.56501039A>G							p.Q131_splice	NM_006191	NP_006182	Q9UQ80	PA2G4_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.0739)		4	812	+			131					O43846|Q9UM59	Missense_Mutation	SNP	ENST00000303305.6	37	c.393_splice	CCDS8902.1	.	.	.	.	.	.	.	.	.	.	A	13.84	2.355756	0.41700	.	.	ENSG00000257411;ENSG00000170515;ENSG00000170515;ENSG00000170515;ENSG00000170515;ENSG00000170515;ENSG00000170515	ENST00000548861;ENST00000303305;ENST00000552766;ENST00000417031;ENST00000546435;ENST00000548711;ENST00000553057	.	.	.	4.86	3.71	0.42584	Peptidase M24, structural domain (3);	0.250843	0.45606	D	0.000354	T	0.53318	0.1789	L	0.59436	1.845	0.80722	D	1	B;B;B	0.16802	0.019;0.002;0.003	B;B;B	0.20577	0.03;0.009;0.015	T	0.42582	-0.9443	9	0.11485	T	0.65	.	10.2648	0.43449	0.852:0.0:0.0:0.148	.	131;131;131	F8VRZ3;F8VTY8;Q9UQ80	.;.;PA2G4_HUMAN	R	112;131;131;160;131;131;120	.	ENSP00000302886:Q131R	Q	+	2	0	PA2G4;RP11-603J24.9	54787306	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	4.149000	0.58091	0.866000	0.35629	0.533000	0.62120	CAG		0.488	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407767.1	NM_006191	Missense_Mutation
USP15	9958	broad.mit.edu	37	12	62778015	62778015	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr12:62778015C>G	ENST00000280377.5	+	11	1463	c.1405C>G	c.(1405-1407)Ccc>Gcc	p.P469A	USP15_ENST00000353364.3_Missense_Mutation_p.P440A|USP15_ENST00000393654.3_Missense_Mutation_p.P444A	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	469	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		ACTTCCATTGCCCATGAAAAA	0.348																																					Melanoma(181;615 2041 39364 49691 50001)	uc001src.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37						c.(1405-1407)Ccc>Gcc		Homo sapiens ubiquitin specific peptidase 15 (USP15), transcript variant 1, mRNA.							86.0	80.0	82.0					12																	62778015		2203	4299	6502	SO:0001583	missense	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62778015C>G	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.1405C>G	12.37:g.62778015C>G	ENSP00000280377:p.Pro469Ala					USP15_uc001srb.2_Missense_Mutation_p.P440A	p.P469A	NM_001252078	NP_001239007	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	10	1480	+			469					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	c.1405C>G	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.571798	0.86542	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654	T;T;T	0.37411	3.9;3.9;1.2	5.16	5.16	0.70880	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.61048	0.2316	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	T	0.59456	-0.7451	9	.	.	.	-6.5573	18.8461	0.92208	0.0:1.0:0.0:0.0	.	469;440	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	A	440;469;444	ENSP00000258123:P440A;ENSP00000280377:P469A;ENSP00000377264:P444A	.	P	+	1	0	USP15	61064282	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.690000	0.91761	0.655000	0.94253	CCC		0.348	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313	
NAV3	89795	broad.mit.edu	37	12	78415582	78415582	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr12:78415582C>G	ENST00000397909.2	+	9	2136	c.1963C>G	c.(1963-1965)Cct>Gct	p.P655A	NAV3_ENST00000228327.6_Missense_Mutation_p.P655A|NAV3_ENST00000266692.7_Missense_Mutation_p.P655A|NAV3_ENST00000536525.2_Missense_Mutation_p.P655A			Q8IVL0	NAV3_HUMAN	neuron navigator 3	655						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CTGTACCAGTCCTACAAAGAT	0.413										HNSCC(70;0.22)																												uc001syp.3																			0		p.S654R(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(1963-1965)Cct>Gct		Homo sapiens neuron navigator 3 (NAV3), mRNA.							109.0	110.0	110.0					12																	78415582		2025	4207	6232	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78415582C>G	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1963C>G	12.37:g.78415582C>G	ENSP00000381007:p.Pro655Ala	HNSCC(70;0.22)				NAV3_uc001syo.3_Missense_Mutation_p.P655A	p.P655A	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			8	2136	+			655					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.1963C>G		.	.	.	.	.	.	.	.	.	.	C	12.01	1.810715	0.32053	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53	5.46	5.46	0.80206	.	0.000000	0.40064	U	0.001195	T	0.32734	0.0839	L	0.50333	1.59	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.994;0.996	T	0.00961	-1.1499	10	0.23302	T	0.38	-10.9948	19.3278	0.94270	0.0:1.0:0.0:0.0	.	655;655	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	A	655	ENSP00000446628:P655A;ENSP00000446132:P655A;ENSP00000381007:P655A;ENSP00000228327:P655A;ENSP00000266692:P655A	ENSP00000228327:P655A	P	+	1	0	NAV3	76939713	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	6.464000	0.73534	2.576000	0.86940	0.655000	0.94253	CCT		0.413	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383	
TPTE2	93492	broad.mit.edu	37	13	20039678	20039678	+	Missense_Mutation	SNP	C	C	T	rs555974519	byFrequency	TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr13:20039678C>T	ENST00000400230.2	-	8	583	c.539G>A	c.(538-540)cGa>cAa	p.R180Q	TPTE2_ENST00000382977.4_Missense_Mutation_p.R180Q|TPTE2_ENST00000382978.1_Missense_Mutation_p.R140Q|TPTE2_ENST00000457266.2_Missense_Mutation_p.R69Q|TPTE2_ENST00000400103.2_Missense_Mutation_p.R69Q|TPTE2_ENST00000382975.4_Missense_Mutation_p.R140Q|TPTE2_ENST00000390680.2_Missense_Mutation_p.R103Q|TPTE2_ENST00000255310.6_Missense_Mutation_p.R103Q			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	180					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AATAATAAGTCGTAGAAGTCG	0.313													c|||	2	0.000399361	0.0	0.0	5008	,	,		18882	0.001		0.0	False		,,,				2504	0.001					uc001umd.3																			0				NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(538-540)cGa>cAa		Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.							39.0	37.0	38.0					13																	20039678		2200	4299	6499	SO:0001583	missense	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20039678C>T	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.539G>A	13.37:g.20039678C>T	ENSP00000383089:p.Arg180Gln					TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.R69Q|TPTE2_uc001ume.3_Missense_Mutation_p.R103Q|TPTE2_uc009zzm.3_5'UTR|TPTE2_uc010tcm.2_Non-coding_Transcript	p.R180Q	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	8	750	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	180					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.539G>A	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	c	14.07	2.426882	0.43020	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	D;D;D;D;D;D;D;D	0.98617	-5.03;-3.84;-5.03;-5.03;-5.03;-5.03;-5.03;-3.84	2.79	1.02	0.19986	Ion transport (1);	0.000000	0.85682	U	0.000000	D	0.98748	0.9579	M	0.86864	2.845	0.18873	N	0.999989	P;D;D	0.89917	0.48;0.99;1.0	B;P;D	0.80764	0.034;0.735;0.994	D	0.95149	0.8271	9	.	.	.	-4.2096	4.8643	0.13600	0.0:0.6991:0.0:0.3009	.	69;103;180	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	Q	140;69;180;103;103;180;140;69;180;49	ENSP00000372438:R140Q;ENSP00000382974:R69Q;ENSP00000383089:R180Q;ENSP00000255310:R103Q;ENSP00000375098:R103Q;ENSP00000372437:R180Q;ENSP00000372435:R140Q;ENSP00000442218:R69Q	.	R	-	2	0	TPTE2	18937678	1.000000	0.71417	0.001000	0.08648	0.005000	0.04900	4.605000	0.61119	0.231000	0.21079	-0.373000	0.07131	CGA		0.313	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254	
SACS	26278	broad.mit.edu	37	13	23908157	23908157	+	Missense_Mutation	SNP	A	A	C			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr13:23908157A>C	ENST00000382292.3	-	9	10131	c.9858T>G	c.(9856-9858)ttT>ttG	p.F3286L	SACS_ENST00000382298.3_Missense_Mutation_p.F3286L|SACS_ENST00000402364.1_Missense_Mutation_p.F2536L			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3286					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CTGAAACAGTAAACTTTGTTC	0.408																																						uc001uon.2																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(9856-9858)ttT>ttG		Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.							98.0	86.0	90.0					13																	23908157		2203	4299	6502	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23908157A>C	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.9858T>G	13.37:g.23908157A>C	ENSP00000371729:p.Phe3286Leu					SACS_uc001uoo.2_Missense_Mutation_p.F3139L|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.F3286L	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	9	10447	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	3286					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.9858T>G	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	A	17.23	3.336509	0.60963	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87179	-2.06;-2.22;-2.06	5.45	0.287	0.15714	.	0.000000	0.85682	D	0.000000	T	0.80380	0.4612	L	0.27053	0.805	0.34512	D	0.707238	D	0.54207	0.965	P	0.50314	0.637	T	0.78165	-0.2310	10	0.11794	T	0.64	.	10.7762	0.46350	0.5839:0.0:0.4161:0.0	.	3286	Q9NZJ4	SACS_HUMAN	L	3286;2536;3286	ENSP00000371729:F3286L;ENSP00000385844:F2536L;ENSP00000371735:F3286L	ENSP00000371729:F3286L	F	-	3	2	SACS	22806157	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	0.982000	0.29539	-0.086000	0.12550	0.454000	0.30748	TTT		0.408	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363	
SPATA13	221178	broad.mit.edu	37	13	24871773	24871773	+	Silent	SNP	C	C	T	rs368299819		TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr13:24871773C>T	ENST00000382095.4	+	10	2015	c.1608C>T	c.(1606-1608)gaC>gaT	p.D536D	SPATA13_ENST00000399949.2_Silent_p.D458D|SPATA13_ENST00000409126.1_Silent_p.D396D|RP11-307N16.6_ENST00000382141.4_Silent_p.D1039D|SPATA13_ENST00000424834.2_Silent_p.D1161D|SPATA13_ENST00000343003.6_Silent_p.D480D|SPATA13_ENST00000382108.3_Silent_p.D1161D	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	536	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		GGACCACAGACGAGGTTTATT	0.532													c|||	1	0.000199681	0.0008	0.0	5008	,	,		21492	0.0		0.0	False		,,,				2504	0.0					uc001upd.2																			0				breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23						c.(3481-3483)gaC>gaT		Homo sapiens spermatogenesis associated 13 (SPATA13), transcript variant 2, mRNA.		T	,	2,4404	4.2+/-10.8	0,2,2201	77.0	77.0	77.0		3483,1608	-9.6	0.0	13		77	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SPATA13	NM_001166271.1,NM_153023.2	,	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	,	1161/1278,536/653	24871773	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	221178				cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity	g.chr13:24871773C>T	AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.1608C>T	13.37:g.24871773C>T						SPATA13_uc001upe.3_Non-coding_Transcript|SPATA13_uc021rhg.1_Silent_p.D1161D|SPATA13_uc001upg.2_Silent_p.D536D|SPATA13_uc010tcy.1_Silent_p.D482D|SPATA13_uc010tcz.2_Silent_p.D420D|SPATA13_uc010tdb.2_Silent_p.D396D|SPATA13_uc010tda.2_Silent_p.D480D|SPATA13_uc001uph.3_Silent_p.D458D|SPATA13_uc009zzz.2_Intron|SPATA13_uc001upi.1_Silent_p.D42D	p.D1161D	NM_153023	NP_694568	Q96N96	SPT13_HUMAN		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)	12	4061	+		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)	536					A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Silent	SNP	ENST00000382095.4	37	c.3483C>T	CCDS9305.1	.	.	.	.	.	.	.	.	.	.	c	0.015	-1.549699	0.00926	4.54E-4	1.16E-4	ENSG00000182957	ENST00000424834	.	.	.	4.79	-9.58	0.00559	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.5791	0.04814	0.1859:0.1895:0.1387:0.486	.	.	.	.	X	1199	.	.	R	+	1	2	SPATA13	23769773	0.003000	0.15002	0.001000	0.08648	0.016000	0.09150	-1.955000	0.01523	-2.319000	0.00643	-2.131000	0.00343	CGA		0.532	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044180.2	NM_153023	
SLC46A3	283537	broad.mit.edu	37	13	29287613	29287613	+	Silent	SNP	T	T	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr13:29287613T>A	ENST00000266943.6	-	3	633	c.264A>T	c.(262-264)acA>acT	p.T88T	SLC46A3_ENST00000380814.4_Silent_p.T88T	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	88					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.T88T(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		AAAGTATGAATGTAGACACTA	0.378																																						uc001usj.3																			2	Substitution - coding silent(2)	p.T88T(3)	endometrium(2)	central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15						c.(262-264)acA>acT		Homo sapiens solute carrier family 46, member 3 (SLC46A3), transcript variant 2, mRNA.							62.0	59.0	60.0					13																	29287613		2203	4300	6503	SO:0001819	synonymous_variant	283537				transmembrane transport	integral to membrane		g.chr13:29287613T>A		CCDS9332.1, CCDS45021.1	13q12.3	2013-05-22	2007-03-29		ENSG00000139508	ENSG00000139508		"""Solute carriers"""	27501	protein-coding gene	gene with protein product							Standard	NM_001135919		Approved	DKFZp686A1775, FLJ42613	uc001usj.3	Q7Z3Q1	OTTHUMG00000016650	ENST00000266943.6:c.264A>T	13.37:g.29287613T>A						SLC46A3_uc001usg.3_Silent_p.T13T|SLC46A3_uc001usi.3_Silent_p.T88T|SLC46A3_uc001ush.3_Silent_p.T88T|SLC46A3_uc001usk.3_Silent_p.T13T	p.T88T	NM_001135919	NP_001129391	Q7Z3Q1	S46A3_HUMAN		all cancers(112;0.159)	2	806	-		Lung SC(185;0.0367)	88					Q3ZCV8|Q6NUK5|Q6P9B3|Q6ZVG5|Q96QA1	Silent	SNP	ENST00000266943.6	37	c.264A>T	CCDS9332.1																																																																																				0.378	SLC46A3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276111.1	NM_181785	
VPS18	57617	broad.mit.edu	37	15	41191638	41191638	+	Missense_Mutation	SNP	C	C	T	rs267604184		TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr15:41191638C>T	ENST00000220509.5	+	4	961	c.622C>T	c.(622-624)Ctt>Ttt	p.L208F	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	208					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TGTGTGCTCCCTTGAGGCCGA	0.617																																						uc001zne.3																			0				autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28						c.(622-624)Ctt>Ttt		Homo sapiens vacuolar protein sorting 18 homolog (S. cerevisiae) (VPS18), mRNA.							66.0	71.0	69.0					15																	41191638		2203	4300	6503	SO:0001583	missense	57617				endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding	g.chr15:41191638C>T	AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"""vacuolar protein sorting protein 18"""			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.622C>T	15.37:g.41191638C>T	ENSP00000220509:p.Leu208Phe						p.L208F	NM_020857	NP_065908	Q9P253	VPS18_HUMAN		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)	3	961	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	208					Q8TCG0|Q96DI3|Q9H268	Missense_Mutation	SNP	ENST00000220509.5	37	c.622C>T	CCDS10069.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.818381	0.32145	.	.	ENSG00000104142	ENST00000220509	T	0.49720	0.77	4.74	2.71	0.32032	.	0.069382	0.64402	D	0.000018	T	0.53562	0.1804	M	0.71036	2.16	0.80722	D	1	P	0.42556	0.783	P	0.50970	0.655	T	0.52975	-0.8503	10	0.44086	T	0.13	-18.409	7.2332	0.26055	0.1411:0.6903:0.0:0.1685	.	208	Q9P253	VPS18_HUMAN	F	208	ENSP00000220509:L208F	ENSP00000220509:L208F	L	+	1	0	VPS18	38978930	0.256000	0.24012	0.966000	0.40874	0.767000	0.43475	0.350000	0.20079	1.342000	0.45619	0.655000	0.94253	CTT		0.617	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2		
UBR1	197131	broad.mit.edu	37	15	43317593	43317593	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr15:43317593T>C	ENST00000290650.4	-	24	2648	c.2570A>G	c.(2569-2571)gAa>gGa	p.E857G	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	857					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		ATCTTTGTTTTCTTGTTTTCT	0.299																																						uc001zqq.3																			0				NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58						c.(2569-2571)gAa>gGa		Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA.							186.0	158.0	167.0					15																	43317593		2197	4297	6494	SO:0001583	missense	197131				cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	g.chr15:43317593T>C		CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.2570A>G	15.37:g.43317593T>C	ENSP00000290650:p.Glu857Gly					UBR1_uc010udk.1_Missense_Mutation_p.E857G	p.E857G	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)	23	2636	-		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)	857					O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	37	c.2570A>G	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.349022	0.82132	.	.	ENSG00000159459	ENST00000290650;ENST00000546274	T	0.50813	0.73	5.19	5.19	0.71726	.	0.110120	0.64402	D	0.000008	T	0.44477	0.1295	M	0.61703	1.905	0.80722	D	1	B;B	0.26120	0.142;0.1	B;B	0.23150	0.044;0.033	T	0.34329	-0.9833	10	0.23891	T	0.37	-22.6566	13.568	0.61830	0.0:0.0:0.0:1.0	.	857;857	B4DYL2;Q8IWV7	.;UBR1_HUMAN	G	857	ENSP00000290650:E857G	ENSP00000290650:E857G	E	-	2	0	UBR1	41104885	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.572000	0.60886	2.089000	0.63090	0.533000	0.62120	GAA		0.299	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916	
GABPB1	2553	broad.mit.edu	37	15	50593079	50593079	+	Missense_Mutation	SNP	C	C	T	rs147105901	byFrequency	TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr15:50593079C>T	ENST00000220429.8	-	6	808	c.640G>A	c.(640-642)Gtt>Att	p.V214I	GABPB1_ENST00000380877.3_Missense_Mutation_p.V202I|GABPB1_ENST00000359031.4_Missense_Mutation_p.V202I|GABPB1_ENST00000429662.2_Missense_Mutation_p.V214I|GABPB1_ENST00000543881.1_Missense_Mutation_p.V138I|GABPB1_ENST00000560825.1_Missense_Mutation_p.V202I|GABPB1_ENST00000396464.3_Missense_Mutation_p.V202I			Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1	214					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						CCAAACTGAACAGCAGATACA	0.348																																						uc001zyb.3																			0				cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						c.(640-642)Gtt>Att		Homo sapiens GA binding protein transcription factor, beta subunit 1 (GABPB1), transcript variant beta-1, mRNA.							92.0	89.0	90.0					15																	50593079		2196	4295	6491	SO:0001583	missense	2553				positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr15:50593079C>T	D13316	CCDS10135.1, CCDS10136.1, CCDS32239.1, CCDS45258.1	15q21.2	2013-01-10	2008-02-25	2008-02-25	ENSG00000104064	ENSG00000104064		"""Ankyrin repeat domain containing"""	4074	protein-coding gene	gene with protein product		600610	"""GA binding protein transcription factor, beta subunit 2"""	GABPB2		7958862	Standard	NM_016655		Approved	E4TF1-47, GABPB	uc001zyb.3	Q06547	OTTHUMG00000131642	ENST00000220429.8:c.640G>A	15.37:g.50593079C>T	ENSP00000220429:p.Val214Ile					GABPB1_uc001zya.3_Missense_Mutation_p.V202I|GABPB1_uc010ufg.2_Missense_Mutation_p.V138I|GABPB1_uc001zyd.3_Missense_Mutation_p.V202I|GABPB1_uc001zye.3_Missense_Mutation_p.V214I|GABPB1_uc001zyf.3_Missense_Mutation_p.V202I|GABPB1_uc001zyc.3_Missense_Mutation_p.V202I	p.V214I	NM_005254	NP_005245	Q06547	GABP1_HUMAN			5	1064	-			214					A8IE52|Q06545|Q12940|Q12941|Q12942|Q8IYD0	Missense_Mutation	SNP	ENST00000220429.8	37	c.640G>A	CCDS32239.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138360	0.77775	.	.	ENSG00000104064	ENST00000220429;ENST00000380877;ENST00000543881;ENST00000396464;ENST00000429662;ENST00000359031	T;T;T;T	0.67698	0.72;-0.22;-0.28;-0.22	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000002	T	0.72914	0.3520	N	0.22421	0.69	0.51767	D	0.999931	P;B;P;P;P	0.44690	0.841;0.162;0.756;0.841;0.756	P;B;P;P;P	0.61722	0.846;0.058;0.893;0.846;0.893	T	0.74654	-0.3593	10	0.62326	D	0.03	-19.251	19.9207	0.97085	0.0:1.0:0.0:0.0	.	214;214;202;214;202	B7Z726;Q06547-3;Q06547-4;Q06547;Q06547-2	.;.;.;GABP1_HUMAN;.	I	202;214;138;202;214;202	ENSP00000442500:V138I;ENSP00000379728:V202I;ENSP00000395771:V214I;ENSP00000351923:V202I	ENSP00000220429:V202I	V	-	1	0	GABPB1	48380371	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.025000	0.70864	2.708000	0.92522	0.644000	0.83932	GTT		0.348	GABPB1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000418294.1		
MEFV	4210	broad.mit.edu	37	16	3299649	3299649	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr16:3299649G>A	ENST00000219596.1	-	3	1081	c.1042C>T	c.(1042-1044)Cgc>Tgc	p.R348C	MEFV_ENST00000536379.1_Missense_Mutation_p.R137C|MEFV_ENST00000541159.1_Missense_Mutation_p.R137C|MEFV_ENST00000339854.4_Missense_Mutation_p.R168C	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	348					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						CCAGGTGAGCGGCTGCCTGAG	0.657																																						uc002cun.1																			0		p.R348H(1)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						c.(1042-1044)Cgc>Tgc		Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	Colchicine(DB01394)						25.0	28.0	27.0					16																	3299649		2196	4300	6496	SO:0001583	missense	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3299649G>A	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1042C>T	16.37:g.3299649G>A	ENSP00000219596:p.Arg348Cys					MEFV_uc021tbw.1_Missense_Mutation_p.R137C|MEFV_uc021tbx.1_Intron|MEFV_uc021tby.1_Intron|MEFV_uc021tbz.1_Intron|MEFV_uc021tca.1_Intron|MEFV_uc021tcb.1_Intron	p.R348C	NM_000243	NP_000234	O15553	MEFV_HUMAN			2	1082	-			348					D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	ENST00000219596.1	37	c.1042C>T	CCDS10498.1	.	.	.	.	.	.	.	.	.	.	G	8.227	0.803800	0.16467	.	.	ENSG00000103313	ENST00000545159;ENST00000219596;ENST00000339854;ENST00000541159;ENST00000536379;ENST00000534868	T;T;T;T	0.65732	-0.17;0.26;0.14;0.28	4.11	-4.58	0.03410	.	2.533260	0.01059	N	0.004617	T	0.31796	0.0808	N	0.01576	-0.805	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.24512	-1.0158	10	0.42905	T	0.14	-27.6587	5.7152	0.17956	0.5456:0.0:0.3149:0.1395	.	348	O15553	MEFV_HUMAN	C	348;348;168;137;137;137	ENSP00000219596:R348C;ENSP00000339639:R168C;ENSP00000438711:R137C;ENSP00000445079:R137C	ENSP00000219596:R348C	R	-	1	0	MEFV	3239650	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.610000	0.05629	-0.896000	0.03915	-1.051000	0.02340	CGC		0.657	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243	
IL21R	50615	broad.mit.edu	37	16	27460197	27460197	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr16:27460197C>A	ENST00000337929.3	+	9	1683	c.1210C>A	c.(1210-1212)Ctg>Atg	p.L404M	IL21R_ENST00000564089.1_Missense_Mutation_p.L404M|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000395754.4_Missense_Mutation_p.L404M|IL21R_ENST00000395755.1_Missense_Mutation_p.L404M	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	404					interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						AGCCCTGGACCTGGATGCTGG	0.632			T	BCL6	NHL																																	uc002dor.2				Dom	yes		16	16p11	50615	T	interleukin 21 receptor			L	BCL6		NHL		0				breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						c.(1276-1278)Ctg>Atg		Homo sapiens interleukin 21 receptor (IL21R), transcript variant 3, mRNA.							49.0	52.0	51.0					16																	27460197		2197	4300	6497	SO:0001583	missense	50615				natural killer cell activation	integral to membrane	interleukin-21 receptor activity	g.chr16:27460197C>A	AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"""Interleukins and interleukin receptors"", ""CD molecules"""	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.1210C>A	16.37:g.27460197C>A	ENSP00000338010:p.Leu404Met					IL21R_uc002doq.2_Missense_Mutation_p.L404M|IL21R_uc002dos.2_Missense_Mutation_p.L404M|LOC283888_uc002dot.3_Non-coding_Transcript	p.L426M	NM_181079	NP_851565	Q9HBE5	IL21R_HUMAN			9	1824	+			404					A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Missense_Mutation	SNP	ENST00000337929.3	37	c.1276C>A	CCDS10630.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.055113	0.55325	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	T;T;T	0.52754	0.65;0.65;0.65	5.19	3.18	0.36537	.	0.000000	0.35495	N	0.003169	T	0.61590	0.2359	M	0.67953	2.075	0.30814	N	0.738508	D	0.89917	1.0	D	0.76575	0.988	T	0.62914	-0.6753	10	0.66056	D	0.02	-16.5925	7.6965	0.28598	0.0:0.8043:0.0:0.1957	.	404	Q9HBE5	IL21R_HUMAN	M	404	ENSP00000338010:L404M;ENSP00000379104:L404M;ENSP00000379103:L404M	ENSP00000338010:L404M	L	+	1	2	IL21R	27367698	0.035000	0.19736	1.000000	0.80357	0.636000	0.38137	0.034000	0.13776	0.535000	0.28714	0.561000	0.74099	CTG		0.632	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078	
CLEC10A	10462	broad.mit.edu	37	17	6978469	6978469	+	Silent	SNP	G	G	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr17:6978469G>A	ENST00000254868.4	-	9	1183	c.855C>T	c.(853-855)ttC>ttT	p.F285F	CLEC10A_ENST00000416562.2_Silent_p.F258F|CLEC10A_ENST00000576617.1_3'UTR|CLEC10A_ENST00000571664.1_Silent_p.F261F	NM_182906.2	NP_878910.1	Q8IUN9	CLC10_HUMAN	C-type lectin domain family 10, member A	285	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						CGTCTGGATGGAAGTGAGCAC	0.627																																						uc002gek.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						c.(853-855)ttC>ttT		Homo sapiens C-type lectin domain family 10, member A (CLEC10A), transcript variant 1, mRNA.							52.0	52.0	52.0					17																	6978469		2203	4300	6503	SO:0001819	synonymous_variant	10462				endocytosis|innate immune response	integral to membrane|plasma membrane	sugar binding	g.chr17:6978469G>A	D50532	CCDS11087.1, CCDS45597.1	17p13.2	2014-05-20	2005-02-09	2005-02-11		ENSG00000132514		"""C-type lectin domain containing"", ""CD molecules"""	16916	protein-coding gene	gene with protein product	"""macrophage lectin 2 (calcium dependent)"""	605999	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 14 (macrophage-derived)"""	CLECSF13, CLECSF14		8598452	Standard	XM_005256411		Approved	HML2, HML, CD301	uc002gej.3	Q8IUN9		ENST00000254868.4:c.855C>T	17.37:g.6978469G>A						CLEC10A_uc002gej.3_Silent_p.F261F|CLEC10A_uc010clv.2_3'UTR	p.F285F	NM_182906	NP_878910	Q8IUN9	CLC10_HUMAN			8	1158	-			285			C-type lectin.		A8K8J8|Q14538|Q6PIW3	Silent	SNP	ENST00000254868.4	37	c.855C>T	CCDS11087.1																																																																																				0.627	CLEC10A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000439837.2	NM_006344	
DNAH2	146754	broad.mit.edu	37	17	7721011	7721011	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr17:7721011G>A	ENST00000572933.1	+	66	11613	c.10153G>A	c.(10153-10155)Gtc>Atc	p.V3385I	DNAH2_ENST00000389173.2_Missense_Mutation_p.V3385I			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3385	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGGCATCATCGTCACCCGAGG	0.597																																						uc002giu.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(10153-10155)Gtc>Atc		Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.							73.0	69.0	71.0					17																	7721011		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7721011G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.10153G>A	17.37:g.7721011G>A	ENSP00000458355:p.Val3385Ile					DNAH2_uc010cnm.1_Missense_Mutation_p.V323I	p.V3385I	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			64	10167	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	3385			AAA 5 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.10153G>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.825460	0.71143	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.61040	0.14	5.36	5.36	0.76844	.	0.077077	0.51477	D	0.000099	T	0.72938	0.3523	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.67900	0.923;0.954	T	0.72646	-0.4230	10	0.45353	T	0.12	.	17.8503	0.88744	0.0:0.0:1.0:0.0	.	3346;3385	Q9P225-2;Q9P225	.;DYH2_HUMAN	I	3346;3385	ENSP00000373825:V3385I	ENSP00000353818:V3346I	V	+	1	0	DNAH2	7661736	1.000000	0.71417	0.963000	0.40424	0.546000	0.35178	5.306000	0.65756	2.514000	0.84764	0.557000	0.71058	GTC		0.597	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	
MYO15A	51168	broad.mit.edu	37	17	18058720	18058720	+	Silent	SNP	G	G	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr17:18058720G>A	ENST00000205890.5	+	47	8771	c.8433G>A	c.(8431-8433)ggG>ggA	p.G2811G	MYO15A_ENST00000418233.3_Silent_p.G75G|MYO15A_ENST00000585180.1_Missense_Mutation_p.A74T	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2811	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGGCCGGCGGGCAGCTGCGGG	0.647																																						uc021trm.1																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(8431-8433)ggG>ggA		Homo sapiens myosin XVA (MYO15A), mRNA.							43.0	52.0	49.0					17																	18058720		2099	4235	6334	SO:0001819	synonymous_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18058720G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.8433G>A	17.37:g.18058720G>A						MYO15A_uc021trl.1_Silent_p.G2809G|MYO15A_uc010vxi.2_Silent_p.G75G|MYO15A_uc010vxj.1_Silent_p.G10G|MYO15A_uc010vxk.1_Intron|MYO15A_uc010vxl.1_5'Flank|MYO15A_uc002gsl.3_5'Flank	p.G2811G	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN			45	8652	+	all_neural(463;0.228)		2811			Tail.		B4DFC7	Silent	SNP	ENST00000205890.5	37	c.8433G>A	CCDS42271.1																																																																																				0.647	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239	
RNF213	57674	broad.mit.edu	37	17	78349658	78349658	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr17:78349658delC	ENST00000582970.1	+	51	13316	c.13173delC	c.(13171-13173)cacfs	p.H4391fs	CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Frame_Shift_Del_p.H2464fs|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Frame_Shift_Del_p.H4440fs	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4391					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CAAGCCTCCACCCCACGCCAG	0.473																																						uc002jyh.2																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(13318-13320)cacfs		SubName: Full=Uncharacterized protein;							77.0	72.0	73.0					17																	78349658		2203	4300	6503	SO:0001589	frameshift_variant	57674							g.chr17:78349658delC	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.13173delC	17.37:g.78349658delC	ENSP00000464087:p.His4391fs					RNF213_uc021uen.1_Frame_Shift_Del_p.H4391fs|LOC100294362_uc002jyi.2_Intron	p.H4440fs	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		51	13463	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Frame_Shift_Del	DEL	ENST00000582970.1	37	c.13320delC	CCDS58606.1																																																																																				0.473	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914	
TIMM21	29090	broad.mit.edu	37	18	71825425	71825425	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr18:71825425G>C	ENST00000169551.6	+	5	854	c.556G>C	c.(556-558)Gat>Cat	p.D186H		NM_014177.2	NP_054896.2	Q9BVV7	TIM21_HUMAN	translocase of inner mitochondrial membrane 21 homolog (yeast)	186					cellular protein metabolic process (GO:0044267)|mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|protein import into mitochondrial matrix (GO:0030150)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane presequence translocase complex (GO:0005744)											ATATGTAAAAGATGGGCTGAA	0.448																																						uc010dqr.1																			0											c.(556-558)Gat>Cat		Homo sapiens translocase of inner mitochondrial membrane 21 homolog (yeast) (TIMM21), nuclear gene encoding mitochondrial protein, mRNA.							88.0	91.0	90.0					18																	71825425		2203	4300	6503	SO:0001583	missense	29090				protein transport|transmembrane transport	integral to membrane|mitochondrial membrane		g.chr18:71825425G>C	BC000892	CCDS12003.1	18q22.3	2011-11-25	2011-11-25	2011-11-25	ENSG00000075336	ENSG00000075336			25010	protein-coding gene	gene with protein product		615180	"""chromosome 18 open reading frame 55"""	C18orf55		11042152	Standard	NM_014177		Approved	HSPC154, TIM21	uc010dqr.1	Q9BVV7	OTTHUMG00000132844	ENST00000169551.6:c.556G>C	18.37:g.71825425G>C	ENSP00000169551:p.Asp186His						p.D186H	NM_014177	NP_054896	Q9BVV7	TI21L_HUMAN			4	854	+			186					Q9P010	Missense_Mutation	SNP	ENST00000169551.6	37	c.556G>C	CCDS12003.1	.	.	.	.	.	.	.	.	.	.	G	5.360	0.251686	0.10185	.	.	ENSG00000075336	ENST00000169551	T	0.55052	0.54	5.55	3.75	0.43078	.	0.094359	0.64402	D	0.000001	T	0.57577	0.2063	M	0.76170	2.325	0.80722	D	1	P	0.41475	0.751	P	0.45167	0.472	T	0.59445	-0.7453	10	0.59425	D	0.04	-19.4553	10.9185	0.47150	0.1523:0.0:0.8477:0.0	.	186	Q9BVV7	TI21L_HUMAN	H	186	ENSP00000169551:D186H	ENSP00000169551:D186H	D	+	1	0	C18orf55	69976405	1.000000	0.71417	0.490000	0.27465	0.080000	0.17528	4.472000	0.60189	0.687000	0.31509	0.551000	0.68910	GAT		0.448	TIMM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256318.1	NM_014177	
POLRMT	5442	broad.mit.edu	37	19	629657	629657	+	Silent	SNP	G	G	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr19:629657G>A	ENST00000588649.2	-	3	789	c.705C>T	c.(703-705)ctC>ctT	p.L235L		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	235					gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGGTCAGTGAGCAGGCAGC	0.662																																						uc002lpf.1																			0				cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20						c.(703-705)ctC>ctT		Homo sapiens polymerase (RNA) mitochondrial (DNA directed) (POLRMT), nuclear gene encoding mitochondrial protein, mRNA.							25.0	27.0	26.0					19																	629657		2201	4297	6498	SO:0001819	synonymous_variant	5442				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr19:629657G>A		CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.705C>T	19.37:g.629657G>A							p.L235L	NM_005035	NP_005026	O00411	RPOM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	761	-		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	235					O60370	Silent	SNP	ENST00000588649.2	37	c.705C>T	CCDS12036.1																																																																																				0.662	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3	NM_005035	
MUC16	94025	broad.mit.edu	37	19	9056794	9056794	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr19:9056794A>G	ENST00000397910.4	-	3	30855	c.30652T>C	c.(30652-30654)Tca>Cca	p.S10218P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10220	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTATACTGTGAGGCTGGAGGC	0.463																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(30652-30654)Tca>Cca		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							108.0	107.0	107.0					19																	9056794		1936	4143	6079	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9056794A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.30652T>C	19.37:g.9056794A>G	ENSP00000381008:p.Ser10218Pro						p.S10218P	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			2	30856	-			10220			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.30652T>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	6.094	0.385556	0.11524	.	.	ENSG00000181143	ENST00000397910	T	0.02709	4.19	3.14	-2.01	0.07410	.	.	.	.	.	T	0.01870	0.0059	N	0.24115	0.695	.	.	.	B	0.28713	0.22	B	0.27076	0.076	T	0.46414	-0.9193	8	0.87932	D	0	.	0.2926	0.00260	0.3798:0.1804:0.2393:0.2005	.	10218	B5ME49	.	P	10218	ENSP00000381008:S10218P	ENSP00000381008:S10218P	S	-	1	0	MUC16	8917794	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.048000	0.11944	-0.582000	0.05929	0.383000	0.25322	TCA		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
EPS15L1	58513	broad.mit.edu	37	19	16528878	16528878	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr19:16528878T>C	ENST00000248070.6	-	11	1127	c.988A>G	c.(988-990)Aaa>Gaa	p.K330E	EPS15L1_ENST00000455140.2_Missense_Mutation_p.K330E|EPS15L1_ENST00000597937.1_Missense_Mutation_p.K330E|EPS15L1_ENST00000602009.1_Missense_Mutation_p.K176E|EPS15L1_ENST00000594975.1_Missense_Mutation_p.K330E|EPS15L1_ENST00000535753.2_Missense_Mutation_p.K330E	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	330	EH 3. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						AATTGGTCTTTGCTTAACTTC	0.547											OREG0025334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002ndx.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						c.(988-990)Aaa>Gaa		Homo sapiens epidermal growth factor receptor pathway substrate 15-like 1 (EPS15L1), mRNA.							217.0	156.0	177.0					19																	16528878		2203	4300	6503	SO:0001583	missense	58513				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding	g.chr19:16528878T>C	AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"""EF-hand domain containing"""	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.988A>G	19.37:g.16528878T>C	ENSP00000248070:p.Lys330Glu		OREG0025334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	711	EPS15L1_uc002ndy.3_Non-coding_Transcript|EPS15L1_uc010xpe.1_Missense_Mutation_p.K220E|EPS15L1_uc002ndz.1_Missense_Mutation_p.K330E|EPS15L1_uc010xpf.1_Missense_Mutation_p.K233E|EPS15L1_uc002nea.1_Missense_Mutation_p.K330E|EPS15L1_uc010eah.1_Missense_Mutation_p.K330E|EPS15L1_uc002neb.1_Missense_Mutation_p.K176E|EPS15L1_uc002nec.1_Missense_Mutation_p.K330E	p.K330E	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN			10	994	-			330			EH 3.		A2RRF3|A5PL29|B4DKA3	Missense_Mutation	SNP	ENST00000248070.6	37	c.988A>G	CCDS32944.1	.	.	.	.	.	.	.	.	.	.	T	16.51	3.144297	0.57044	.	.	ENSG00000127527	ENST00000455140;ENST00000248070;ENST00000535753	T;T;T	0.29142	1.58;1.58;1.58	4.55	3.49	0.39957	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.058138	0.64402	D	0.000003	T	0.34716	0.0907	M	0.74467	2.265	0.38404	D	0.945743	B;B;B;B;B;B	0.24092	0.097;0.041;0.078;0.078;0.02;0.016	B;B;B;B;B;B	0.28709	0.093;0.081;0.038;0.038;0.055;0.049	T	0.25047	-1.0143	10	0.51188	T	0.08	.	10.3091	0.43697	0.0:0.0:0.166:0.834	.	330;330;329;330;330;330	A8K5P4;A5PL29;A5PKY0;A2RRF3;Q9UBC2;G3V0H2	.;.;.;.;EP15R_HUMAN;.	E	330	ENSP00000393313:K330E;ENSP00000248070:K330E;ENSP00000440103:K330E	ENSP00000248070:K330E	K	-	1	0	EPS15L1	16389878	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.057000	0.41365	0.725000	0.32318	0.533000	0.62120	AAA		0.547	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235	
USHBP1	83878	broad.mit.edu	37	19	17362437	17362437	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr19:17362437G>A	ENST00000594059.1	-	0	247				USHBP1_ENST00000431146.2_Missense_Mutation_p.R562W|USHBP1_ENST00000252597.3_Missense_Mutation_p.R626W														p.R626W(1)									CTCTGAGACCGTCTGGCTCGC	0.607																																						uc002nfs.1																			1	Substitution - Missense(1)	p.R626W(2)	endometrium(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						c.(1876-1878)Cgg>Tgg		Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.							106.0	105.0	106.0					19																	17362437		2203	4300	6503			83878						PDZ domain binding	g.chr19:17362437G>A																												ENST00000594059.1:c.-129C>T	19.37:g.17362437G>A						USHBP1_uc002nfr.1_Missense_Mutation_p.R252W|USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Missense_Mutation_p.R562W	p.R626W	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN			11	1989	-			626						Missense_Mutation	SNP	ENST00000594059.1	37	c.1876C>T		.	.	.	.	.	.	.	.	.	.	G	12.94	2.089152	0.36855	.	.	ENSG00000130307	ENST00000252597;ENST00000431146	T;T	0.21031	2.04;2.03	4.28	-1.21	0.09524	.	0.816672	0.10189	N	0.704928	T	0.30572	0.0769	L	0.56769	1.78	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.63283	0.913;0.913	T	0.19943	-1.0290	10	0.72032	D	0.01	-0.114	1.4823	0.02439	0.2006:0.1637:0.4681:0.1676	.	562;626	B4DUE8;Q8N6Y0	.;USBP1_HUMAN	W	626;562	ENSP00000252597:R626W;ENSP00000407902:R562W	ENSP00000252597:R626W	R	-	1	2	USHBP1	17223437	0.000000	0.05858	0.013000	0.15412	0.436000	0.31835	0.186000	0.16978	0.036000	0.15547	0.561000	0.74099	CGG		0.607	AC010646.3-001	NOVEL	mRNA_end_NF|cds_end_NF|basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000463327.1		
MAG	4099	broad.mit.edu	37	19	35786610	35786610	+	Silent	SNP	G	G	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr19:35786610G>A	ENST00000392213.3	+	4	300	c.141G>A	c.(139-141)ccG>ccA	p.P47P	MAG_ENST00000597035.1_Silent_p.P47P|MAG_ENST00000537831.2_Silent_p.P22P|MAG_ENST00000361922.4_Silent_p.P47P	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	47	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TTGACTTCCCGGATGAGCTGC	0.642																																						uc002nyy.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34						c.(139-141)ccG>ccA		Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA.							73.0	76.0	75.0					19																	35786610		2203	4300	6503	SO:0001819	synonymous_variant	4099				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	g.chr19:35786610G>A	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6783	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 4A"""	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.141G>A	19.37:g.35786610G>A						MAG_uc002nyx.2_Silent_p.P47P|MAG_uc010eds.2_Silent_p.P22P|MAG_uc002nyz.2_Silent_p.P47P	p.P47P	NM_002361	NP_001186145	P20916	MAG_HUMAN	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		3	339	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	47			Ig-like V-type.		B7Z2E5|F5GYC0|Q567S4	Silent	SNP	ENST00000392213.3	37	c.141G>A	CCDS12455.1																																																																																				0.642	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600	
TTN	7273	broad.mit.edu	37	2	179596192	179596192	+	Silent	SNP	G	G	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr2:179596192G>A	ENST00000591111.1	-	57	16574	c.16350C>T	c.(16348-16350)agC>agT	p.S5450S	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.S4523S|TTN_ENST00000589042.1_Silent_p.S5767S|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12269	Ig-like 35.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGATTTCATCGCTGTCTTTTA	0.483																																						uc021vsy.1																			0		p.E4523K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(13567-13569)agC>agT		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							88.0	83.0	85.0					2																	179596192		1925	4141	6066	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179596192G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.16350C>T	2.37:g.179596192G>A						TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.S1184S	p.S4523S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		55	13794	-			5450			Ig-like 25.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.13569C>T																																																																																					0.483	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
PRDM15	63977	broad.mit.edu	37	21	43246405	43246405	+	Missense_Mutation	SNP	G	G	A	rs139958739		TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr21:43246405G>A	ENST00000269844.3	-	20	2748	c.2638C>T	c.(2638-2640)Cgg>Tgg	p.R880W	PRDM15_ENST00000422911.1_Missense_Mutation_p.R571W|PRDM15_ENST00000398548.1_Missense_Mutation_p.R551W|PRDM15_ENST00000447207.2_Missense_Mutation_p.R514W|PRDM15_ENST00000538201.1_Missense_Mutation_p.R534W	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	880					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						TTCACTCGCCGCACTCCTGAA	0.577													g|||	1	0.000199681	0.0	0.0	5008	,	,		17930	0.001		0.0	False		,,,				2504	0.0					uc002yzq.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						c.(2638-2640)Cgg>Tgg		Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.							70.0	62.0	65.0					21																	43246405		2203	4300	6503	SO:0001583	missense	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43246405G>A	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.2638C>T	21.37:g.43246405G>A	ENSP00000269844:p.Arg880Trp					PRDM15_uc002yzo.3_Missense_Mutation_p.R551W|PRDM15_uc002yzp.3_Missense_Mutation_p.R571W|PRDM15_uc002yzr.1_Missense_Mutation_p.R571W	p.R880W	NM_022115	NP_071398	P57071	PRD15_HUMAN			19	2749	-			880					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	37	c.2638C>T	CCDS13676.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	19.72	3.879568	0.72294	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844	T;T;T;T;T	0.09630	2.96;3.04;2.98;3.03;3.0	5.3	0.537	0.17144	.	.	.	.	.	T	0.26122	0.0637	L	0.58669	1.825	0.46376	D	0.999015	D;D;D	0.89917	1.0;1.0;1.0	D;P;D	0.69654	0.965;0.874;0.936	T	0.02444	-1.1158	9	0.87932	D	0	-15.413	14.0889	0.64977	0.0:0.0:0.3676:0.6324	.	880;571;551	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	W	571;551;534;514;880	ENSP00000408592:R571W;ENSP00000381556:R551W;ENSP00000444044:R534W;ENSP00000390245:R514W;ENSP00000269844:R880W	ENSP00000269844:R880W	R	-	1	2	PRDM15	42119474	1.000000	0.71417	0.997000	0.53966	0.789000	0.44602	2.281000	0.43452	0.130000	0.18549	0.454000	0.30748	CGG		0.577	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115	
PIWIL3	440822	broad.mit.edu	37	22	25155854	25155854	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr22:25155854C>T	ENST00000332271.5	-	3	621	c.205G>A	c.(205-207)Gga>Aga	p.G69R	PIWIL3_ENST00000533313.1_5'UTR|PIWIL3_ENST00000527701.1_5'UTR|PIWIL3_ENST00000532537.2_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	69					cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TGTGCTCCTCCTCCTGCTCCT	0.582																																						uc003abd.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(205-207)Gga>Aga		Homo sapiens piwi-like 3 (Drosophila) (PIWIL3), transcript variant 1, mRNA.							427.0	417.0	421.0					22																	25155854		2203	4300	6503	SO:0001583	missense	440822				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	g.chr22:25155854C>T	AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.205G>A	22.37:g.25155854C>T	ENSP00000330031:p.Gly69Arg					PIWIL3_uc011ajx.1_5'UTR|PIWIL3_uc010gut.1_Missense_Mutation_p.G69R|PIWIL3_uc011ajy.1_5'UTR	p.G69R	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN			2	622	-			69						Missense_Mutation	SNP	ENST00000332271.5	37	c.205G>A	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	C	9.979	1.227540	0.22542	.	.	ENSG00000184571	ENST00000332271	T	0.04119	3.7	2.32	-1.64	0.08318	.	251.269000	0.02277	U	0.068982	T	0.03695	0.0105	N	0.22421	0.69	0.09310	N	0.999999	D;P	0.61080	0.989;0.524	P;B	0.44518	0.452;0.055	T	0.37197	-0.9716	10	0.11794	T	0.64	-0.842	2.9907	0.05982	0.0:0.4305:0.2332:0.3363	.	69;69	B4DYF7;Q7Z3Z3	.;PIWL3_HUMAN	R	69	ENSP00000330031:G69R	ENSP00000330031:G69R	G	-	1	0	PIWIL3	23485854	0.005000	0.15991	0.000000	0.03702	0.001000	0.01503	0.171000	0.16685	-0.264000	0.09365	-0.808000	0.03180	GGA		0.582	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496	
QARS	5859	broad.mit.edu	37	3	49142151	49142151	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr3:49142151A>G	ENST00000306125.6	-	1	353	c.16T>C	c.(16-18)Tcc>Ccc	p.S6P	QARS_ENST00000414533.1_Missense_Mutation_p.S6P|QARS_ENST00000470225.1_5'Flank|QARS_ENST00000420147.2_Missense_Mutation_p.S24P			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	6					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	AGCGACAGGGAGTCTAGAGCC	0.602																																						uc003cvx.3																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.(16-18)Tcc>Ccc		Homo sapiens glutaminyl-tRNA synthetase (QARS), mRNA.	L-Glutamine(DB00130)						37.0	43.0	41.0					3																	49142151		2203	4300	6503	SO:0001583	missense	5859				glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding	g.chr3:49142151A>G	X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"""Aminoacyl tRNA synthetases / Class I"""	9751	protein-coding gene	gene with protein product	"""glutamine tRNA ligase"""	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.16T>C	3.37:g.49142151A>G	ENSP00000307567:p.Ser6Pro					QARS_uc011bcd.2_5'Flank|QARS_uc003cvy.3_5'UTR|QARS_uc011bce.2_Missense_Mutation_p.S6P|QARS_uc011bcf.1_Missense_Mutation_p.S6P	p.S6P	NM_005051	NP_005042	P47897	SYQ_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	0	21	-			6					B4DWJ2	Missense_Mutation	SNP	ENST00000306125.6	37	c.16T>C	CCDS2788.1	.	.	.	.	.	.	.	.	.	.	A	15.26	2.781555	0.49891	.	.	ENSG00000172053	ENST00000306125;ENST00000414533;ENST00000420147;ENST00000452739;ENST00000417025	T;T	0.23348	1.91;1.91	5.35	-0.0962	0.13637	Glutaminyl-tRNA synthetase, class Ib, non-specific RNA-binding domain, N-terminal (1);	0.378699	0.30850	N	0.008758	T	0.25457	0.0619	L	0.36672	1.1	0.34867	D	0.743187	D;B;B	0.55800	0.973;0.364;0.364	P;B;B	0.57846	0.828;0.36;0.36	T	0.32455	-0.9906	10	0.30078	T	0.28	-10.3021	3.7917	0.08722	0.5622:0.2499:0.068:0.1199	.	24;6;6	B7Z840;B4DWJ2;P47897	.;.;SYQ_HUMAN	P	6;6;24;6;6	ENSP00000307567:S6P;ENSP00000390015:S6P	ENSP00000307567:S6P	S	-	1	0	QARS	49117155	0.998000	0.40836	0.475000	0.27278	0.273000	0.26683	0.741000	0.26202	-0.068000	0.12953	0.533000	0.62120	TCC		0.602	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345689.2	NM_005051	
UBA7	7318	broad.mit.edu	37	3	49847050	49847050	+	Silent	SNP	C	C	T			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr3:49847050C>T	ENST00000333486.3	-	16	2171	c.2013G>A	c.(2011-2013)gcG>gcA	p.A671A	UBA7_ENST00000494212.1_5'Flank	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	671					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CAAGAGCCCACGCCACACAGT	0.547																																						uc003cxr.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33						c.(2011-2013)gcG>gcA		Homo sapiens ubiquitin-like modifier activating enzyme 7 (UBA7), mRNA.							97.0	99.0	98.0					3																	49847050		2203	4300	6503	SO:0001819	synonymous_variant	7318				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity	g.chr3:49847050C>T	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"""Ubiquitin-like modifier activating enzymes"""	12471	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"""	191325	"""ubiquitin-activating enzyme E1-like"""	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.2013G>A	3.37:g.49847050C>T							p.A671A	NM_003335	NP_003326	P41226	UBA7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	15	2184	-			671					Q9BRB2	Silent	SNP	ENST00000333486.3	37	c.2013G>A	CCDS2805.1																																																																																				0.547	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335	
ABCC5	10057	broad.mit.edu	37	3	183677612	183677612	+	Silent	SNP	T	T	C			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr3:183677612T>C	ENST00000334444.6	-	17	2631	c.2391A>G	c.(2389-2391)aaA>aaG	p.K797K	ABCC5_ENST00000265586.6_Silent_p.K797K	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	797					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	TGGTTTCCTTTTTTGAATTGA	0.363																																						uc003fmg.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(2389-2391)aaA>aaG		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA.							126.0	110.0	115.0					3																	183677612		1802	4066	5868	SO:0001819	synonymous_variant	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183677612T>C	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.2391A>G	3.37:g.183677612T>C						ABCC5_uc011bqt.2_Silent_p.K325K|ABCC5_uc010hxl.3_Silent_p.K797K	p.K797K	NM_005688	NP_005679	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		16	2556	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		797					B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Silent	SNP	ENST00000334444.6	37	c.2391A>G	CCDS43176.1																																																																																				0.363	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688	
ZNF595	152687	broad.mit.edu	37	4	85691	85691	+	3'UTR	SNP	T	T	C			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr4:85691T>C	ENST00000339368.6	+	0	500							Q8IYB9	ZN595_HUMAN	zinc finger protein 595						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		CACAAACTTATACTGAAAAGA	0.353																																						uc003fzv.1																			0											c.(295-297)aTa>aCa		Homo sapiens zinc finger protein 595 (ZNF595), mRNA.							84.0	89.0	87.0					4																	85691		2060	4245	6305	SO:0001624	3_prime_UTR_variant	152687				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:85691T>C	BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"""Zinc fingers, C2H2-type"", ""-"""	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000339368.6:c.*497T>C	4.37:g.85691T>C						ZNF718_uc003fzt.4_Intron|ZNF718_uc003fzu.1_Intron|ZNF718_uc011bus.1_5'UTR|ZNF718_uc011but.1_5'UTR	p.I99T	NM_182524	NP_872330	Q3SXZ3	ZN718_HUMAN		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)	3	452	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)	99						Missense_Mutation	SNP	ENST00000339368.6	37	c.296T>C																																																																																					0.353	ZNF595-001	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000357814.2	NM_182524	
FAM193A	8603	broad.mit.edu	37	4	2733554	2733554	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr4:2733554T>C	ENST00000324666.5	+	20	4108	c.3757T>C	c.(3757-3759)Tcc>Ccc	p.S1253P	FAM193A_ENST00000382839.3_Missense_Mutation_p.S1212P|FAM193A_ENST00000502458.1_Missense_Mutation_p.S1234P|FAM193A_ENST00000505311.1_3'UTR	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	1253										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						TATCAACTGGTCCAATTTTAG	0.517																																						uc010ick.3																			0				NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						c.(4234-4236)Tcc>Ccc		Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA.							132.0	129.0	130.0					4																	2733554		2203	4300	6503	SO:0001583	missense	8603							g.chr4:2733554T>C	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.3757T>C	4.37:g.2733554T>C	ENSP00000324587:p.Ser1253Pro					FAM193A_uc003gfd.3_Missense_Mutation_p.S1212P|FAM193A_uc011bvm.2_Missense_Mutation_p.S1234P|FAM193A_uc011bvn.2_3'UTR|FAM193A_uc010icl.3_Missense_Mutation_p.S1253P|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript	p.S1412P	NM_003704	NP_003695	P78312	F193A_HUMAN			19	4235	+			1253					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	ENST00000324666.5	37	c.4234T>C	CCDS58875.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.491011	0.84962	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000502458	T;T;T	0.49432	0.78;0.78;0.78	5.14	5.14	0.70334	.	0.141480	0.49305	D	0.000147	T	0.56717	0.2004	L	0.29908	0.895	0.80722	D	1	P;P;D;D	0.69078	0.714;0.913;0.988;0.997	B;P;D;D	0.80764	0.417;0.601;0.971;0.994	T	0.60747	-0.7202	10	0.66056	D	0.02	-8.4727	14.1414	0.65322	0.0:0.0:0.0:1.0	.	1234;1253;1234;1212	E9PFA1;P78312;B7ZM85;P78312-2	.;F193A_HUMAN;.;.	P	1212;1253;1234	ENSP00000372290:S1212P;ENSP00000324587:S1253P;ENSP00000427505:S1234P	ENSP00000324587:S1253P	S	+	1	0	FAM193A	2703352	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.740000	0.84986	1.950000	0.56595	0.459000	0.35465	TCC		0.517	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704	
PRKG2	5593	broad.mit.edu	37	4	82063966	82063966	+	Silent	SNP	C	C	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr4:82063966C>A	ENST00000395578.1	-	11	1505	c.1389G>T	c.(1387-1389)ggG>ggT	p.G463G	PRKG2_ENST00000545647.1_Silent_p.G43G|PRKG2_ENST00000418486.2_Intron|PRKG2_ENST00000264399.1_Silent_p.G463G|PRKG2_ENST00000509169.1_5'UTR			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	463	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						CTCTTCCGAACCCACCAACGC	0.428																																						uc003hmh.2																			0				NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						c.(1387-1389)ggG>ggT		Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.							176.0	187.0	184.0					4																	82063966		2203	4300	6503	SO:0001819	synonymous_variant	5593				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr4:82063966C>A	X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.1389G>T	4.37:g.82063966C>A						PRKG2_uc011ccf.1_Silent_p.G43G|PRKG2_uc011ccg.1_Silent_p.G43G|PRKG2_uc011cch.1_Intron	p.G463G	NM_006259	NP_006250	Q13237	KGP2_HUMAN			9	1402	-			463			Protein kinase.		B4DMX3|E7EPE6|O00125|O60916	Silent	SNP	ENST00000395578.1	37	c.1389G>T	CCDS3589.1																																																																																				0.428	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1	NM_006259	
FAT1	2195	broad.mit.edu	37	4	187630082	187630082	+	Silent	SNP	G	G	T			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr4:187630082G>T	ENST00000441802.2	-	2	1109	c.900C>A	c.(898-900)ctC>ctA	p.L300L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	300					actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TAAACTGCTGGAGAAGGTCAC	0.493										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(898-900)ctC>ctA		Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.							256.0	255.0	255.0					4																	187630082		2092	4213	6305	SO:0001819	synonymous_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187630082G>T	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.900C>A	4.37:g.187630082G>T		HNSCC(5;0.00058)				FAT1_uc010iso.1_Silent_p.L300L	p.L300L	NM_005245	NP_005236	Q14517	FAT1_HUMAN			1	1088	-			300						Silent	SNP	ENST00000441802.2	37	c.900C>A	CCDS47177.1																																																																																				0.493	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	
GABRA6	2559	broad.mit.edu	37	5	161119060	161119060	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr5:161119060G>A	ENST00000274545.5	+	8	1373	c.940G>A	c.(940-942)Gtc>Atc	p.V314I	GABRA6_ENST00000523217.1_Missense_Mutation_p.V304I|RP11-348M17.2_ENST00000521984.1_RNA			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	314					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.V314I(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	CTTTGCATTCGTCTTCTCTGC	0.478										TCGA Ovarian(5;0.080)																												uc003lyu.2																			1	Substitution - Missense(1)	p.V314I(2)	ovary(1)	breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57						c.(940-942)Gtc>Atc		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						176.0	146.0	156.0					5																	161119060		2203	4300	6503	SO:0001583	missense	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161119060G>A		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.940G>A	5.37:g.161119060G>A	ENSP00000274545:p.Val314Ile	TCGA Ovarian(5;0.080)				GABRA6_uc003lyv.2_Missense_Mutation_p.V85I	p.V314I	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		7	1278	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	314					A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	c.940G>A	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	G	31	5.062912	0.93898	.	.	ENSG00000145863	ENST00000274545;ENST00000523217	D;D	0.88354	-2.37;-2.37	5.32	5.32	0.75619	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.93798	0.8017	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94268	0.7508	10	0.87932	D	0	.	18.9984	0.92822	0.0:0.0:1.0:0.0	.	314	Q16445	GBRA6_HUMAN	I	314;304	ENSP00000274545:V314I;ENSP00000430527:V304I	ENSP00000274545:V314I	V	+	1	0	GABRA6	161051638	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	9.751000	0.98889	2.468000	0.83385	0.650000	0.86243	GTC		0.478	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2		
ZNF354C	30832	broad.mit.edu	37	5	178506220	178506220	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr5:178506220C>G	ENST00000315475.6	+	5	1093	c.787C>G	c.(787-789)Cag>Gag	p.Q263E		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	263					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		TCTTTCTCATCAGAGAATTCA	0.388																																						uc003mju.3																			0				endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30						c.(787-789)Cag>Gag		Homo sapiens zinc finger protein 354C (ZNF354C), mRNA.							56.0	60.0	58.0					5																	178506220		2203	4300	6503	SO:0001583	missense	30832				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178506220C>G		CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"""Zinc fingers, C2H2-type"", ""-"""	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.787C>G	5.37:g.178506220C>G	ENSP00000324064:p.Gln263Glu						p.Q263E	NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)	4	902	+	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	263					Q6P4P9|Q8NFX1	Missense_Mutation	SNP	ENST00000315475.6	37	c.787C>G	CCDS4443.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.951310	0.53186	.	.	ENSG00000177932	ENST00000315475	T	0.17854	2.25	3.7	3.7	0.42460	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18087	0.0434	L	0.31120	0.905	0.29204	N	0.875059	P	0.49090	0.919	P	0.46850	0.529	T	0.03673	-1.1014	9	0.51188	T	0.08	-14.4764	13.3408	0.60542	0.0:1.0:0.0:0.0	.	263	Q86Y25	Z354C_HUMAN	E	263	ENSP00000324064:Q263E	ENSP00000324064:Q263E	Q	+	1	0	ZNF354C	178438826	0.997000	0.39634	0.997000	0.53966	0.995000	0.86356	1.724000	0.38064	2.050000	0.60909	0.591000	0.81541	CAG		0.388	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253473.2		
ZNF354C	30832	broad.mit.edu	37	5	178506472	178506472	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr5:178506472C>G	ENST00000315475.6	+	5	1345	c.1039C>G	c.(1039-1041)Caa>Gaa	p.Q347E		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	347					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		TCACAGGCATCAAAGAATCCA	0.428																																						uc003mju.3																			0				endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30						c.(1039-1041)Caa>Gaa		Homo sapiens zinc finger protein 354C (ZNF354C), mRNA.							147.0	158.0	155.0					5																	178506472		2203	4300	6503	SO:0001583	missense	30832				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178506472C>G		CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"""Zinc fingers, C2H2-type"", ""-"""	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.1039C>G	5.37:g.178506472C>G	ENSP00000324064:p.Gln347Glu						p.Q347E	NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)	4	1154	+	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	347					Q6P4P9|Q8NFX1	Missense_Mutation	SNP	ENST00000315475.6	37	c.1039C>G	CCDS4443.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.922647	0.52653	.	.	ENSG00000177932	ENST00000315475	T	0.07327	3.2	4.04	4.04	0.47022	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07413	0.0187	L	0.29908	0.895	0.27208	N	0.96	B	0.23128	0.08	B	0.18263	0.021	T	0.11767	-1.0574	9	0.56958	D	0.05	-10.759	10.0268	0.42076	0.0:0.7942:0.2058:0.0	.	347	Q86Y25	Z354C_HUMAN	E	347	ENSP00000324064:Q347E	ENSP00000324064:Q347E	Q	+	1	0	ZNF354C	178439078	0.002000	0.14202	0.945000	0.38365	0.991000	0.79684	0.971000	0.29396	2.226000	0.72624	0.591000	0.81541	CAA		0.428	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253473.2		
ZNF354C	30832	broad.mit.edu	37	5	178506565	178506565	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr5:178506565C>A	ENST00000315475.6	+	5	1438	c.1132C>A	c.(1132-1134)Cat>Aat	p.H378N		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	378					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		TCAGAGGTTTCATACTGGAGA	0.428																																						uc003mju.3																			0				endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30						c.(1132-1134)Cat>Aat		Homo sapiens zinc finger protein 354C (ZNF354C), mRNA.							122.0	115.0	117.0					5																	178506565		2203	4300	6503	SO:0001583	missense	30832				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178506565C>A		CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"""Zinc fingers, C2H2-type"", ""-"""	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.1132C>A	5.37:g.178506565C>A	ENSP00000324064:p.His378Asn						p.H378N	NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)	4	1247	+	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	378					Q6P4P9|Q8NFX1	Missense_Mutation	SNP	ENST00000315475.6	37	c.1132C>A	CCDS4443.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.090939	0.55968	.	.	ENSG00000177932	ENST00000315475	T	0.67345	-0.26	4.04	4.04	0.47022	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.87067	0.6085	H	0.96604	3.85	0.46631	D	0.999132	D	0.76494	0.999	D	0.87578	0.998	D	0.91218	0.5004	9	0.87932	D	0	-18.2562	14.0864	0.64959	0.0:1.0:0.0:0.0	.	378	Q86Y25	Z354C_HUMAN	N	378	ENSP00000324064:H378N	ENSP00000324064:H378N	H	+	1	0	ZNF354C	178439171	1.000000	0.71417	0.994000	0.49952	0.340000	0.28889	5.632000	0.67819	2.226000	0.72624	0.591000	0.81541	CAT		0.428	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253473.2		
CMTR1	23070	broad.mit.edu	37	6	37446254	37446254	+	Silent	SNP	G	G	A	rs371966953		TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr6:37446254G>A	ENST00000373451.4	+	22	2387	c.2223G>A	c.(2221-2223)cgG>cgA	p.R741R		NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	741	Interaction with POLR2A.				7-methylguanosine mRNA capping (GO:0006370)|cap1 mRNA methylation (GO:0097309)|mRNA methylation (GO:0080009)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)|nucleic acid binding (GO:0003676)										GTGATGACCGGCACTTTGTAC	0.587																																						uc003ons.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						c.(2221-2223)cgG>cgA		Homo sapiens FtsJ methyltransferase domain containing 2 (FTSJD2), mRNA.		G		0,4406		0,0,2203	217.0	195.0	202.0		2223	1.5	1.0	6		202	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FTSJD2	NM_015050.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		741/836	37446254	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23070				mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding	g.chr6:37446254G>A	BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	2.1.1.57	"""G patch domain containing"""	21077	protein-coding gene	gene with protein product			"""KIAA0082"", ""FtsJ methyltransferase domain containing 2"""	KIAA0082, FTSJD2		20713356	Standard	NM_015050		Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.2223G>A	6.37:g.37446254G>A							p.R741R	NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN			21	2476	+			741			Interaction with POLR2A.		A8K949|Q14670|Q96FJ9	Silent	SNP	ENST00000373451.4	37	c.2223G>A	CCDS4835.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.298647	0.23650	0.0	1.16E-4	ENSG00000137200	ENST00000457419	.	.	.	5.44	1.48	0.22813	.	.	.	.	.	T	0.37652	0.1011	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25467	-1.0131	4	.	.	.	-19.3211	5.6637	0.17682	0.1516:0.0:0.4713:0.3771	.	.	.	.	D	94	.	.	G	+	2	0	FTSJD2	37554232	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	0.521000	0.22893	0.828000	0.34709	0.655000	0.94253	GGC		0.587	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040408.1	NM_015050	
IGFBP1	3484	broad.mit.edu	37	7	45930223	45930223	+	Silent	SNP	C	C	T			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr7:45930223C>T	ENST00000275525.3	+	2	722	c.426C>T	c.(424-426)gcC>gcT	p.A142A	IGFBP1_ENST00000468955.1_Silent_p.A142A|IGFBP1_ENST00000457280.1_Silent_p.A142A	NM_000596.2	NP_000587.1	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	142					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)|tissue regeneration (GO:0042246)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	insulin-like growth factor binding (GO:0005520)			large_intestine(2)|lung(4)	6						ATCTGATGGCCCCTTCTGAAG	0.517											OREG0018048	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003tnp.3																			0				large_intestine(2)|lung(4)	6						c.(424-426)gcC>gcT		Homo sapiens insulin-like growth factor binding protein 1 (IGFBP1), mRNA.							124.0	123.0	123.0					7																	45930223		2203	4300	6503	SO:0001819	synonymous_variant	3484					extracellular space	insulin-like growth factor binding	g.chr7:45930223C>T		CCDS5504.1	7p12.3	2014-09-16			ENSG00000146678	ENSG00000146678			5469	protein-coding gene	gene with protein product	"""placental protein 12"", ""amniotic fluid binding protein"", ""alpha-pregnancy-associated endometrial globulin"", ""growth hormone independent-binding protein"", ""binding protein-28"", ""binding protein-26"", ""binding protein-25"", ""IGF-binding protein 1"""	146730		IBP1		2461294	Standard	NM_000596		Approved	IGF-BP25, AFBP, hIGFBP-1, PP12	uc003tnp.3	P08833	OTTHUMG00000152343	ENST00000275525.3:c.426C>T	7.37:g.45930223C>T			OREG0018048	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	935		p.A142A	NM_000596	NP_000587	P08833	IBP1_HUMAN			1	719	+			142					A4D2F4|D3DVL9|Q8IYP5	Silent	SNP	ENST00000275525.3	37	c.426C>T	CCDS5504.1																																																																																				0.517	IGFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251355.2	NM_000596	
SEPT14	346288	broad.mit.edu	37	7	55910809	55910809	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr7:55910809T>C	ENST00000388975.3	-	5	500	c.384A>G	c.(382-384)atA>atG	p.I128M	SEPT14_ENST00000477628.1_5'Flank	NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	128	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGTAGTCAACTATTGGTTGGT	0.358																																						uc003tqz.2																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23						c.(382-384)atA>atG		Homo sapiens septin 14 (SEPT14), mRNA.							77.0	69.0	71.0					7																	55910809		1846	4093	5939	SO:0001583	missense	346288				cell cycle|cell division	septin complex	GTP binding|protein binding	g.chr7:55910809T>C	AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997		"""Septins"""	33280	protein-coding gene	gene with protein product		612140					Standard	NM_207366		Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.384A>G	7.37:g.55910809T>C	ENSP00000373627:p.Ile128Met						p.I128M	NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		4	501	-	Breast(14;0.214)		128					A6NCC2|B4DXD6	Missense_Mutation	SNP	ENST00000388975.3	37	c.384A>G	CCDS5519.2	.	.	.	.	.	.	.	.	.	.	t	8.260	0.810966	0.16537	.	.	ENSG00000154997	ENST00000388975	T	0.58652	0.32	4.33	-8.67	0.00863	.	0.245246	0.25529	N	0.030047	T	0.69324	0.3098	M	0.93150	3.385	0.22457	N	0.999086	D	0.61080	0.989	D	0.67103	0.949	T	0.61377	-0.7075	10	0.87932	D	0	.	2.9338	0.05808	0.5178:0.0732:0.2126:0.1964	.	128	Q6ZU15	SEP14_HUMAN	M	128	ENSP00000373627:I128M	ENSP00000373627:I128M	I	-	3	3	SEPT14	55878303	0.433000	0.25562	0.010000	0.14722	0.027000	0.11550	-0.580000	0.05827	-1.906000	0.01089	-1.410000	0.01125	ATA		0.358	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251489.2	NM_207366	
KIAA1324L	222223	broad.mit.edu	37	7	86526910	86526910	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr7:86526910T>C	ENST00000450689.2	-	19	2782	c.2597A>G	c.(2596-2598)tAt>tGt	p.Y866C	KIAA1324L_ENST00000444627.1_Missense_Mutation_p.Y795C|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.Y699C|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.Y626C	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	866						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CCACAGGAAATAGAACGTACA	0.453																																						uc011kha.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						c.(2596-2598)tAt>tGt		Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.							100.0	87.0	91.0					7																	86526910		2203	4300	6503	SO:0001583	missense	222223					integral to membrane		g.chr7:86526910T>C	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.2597A>G	7.37:g.86526910T>C	ENSP00000413445:p.Tyr866Cys					KIAA1324L_uc003uie.3_Missense_Mutation_p.Y699C|KIAA1324L_uc011kgz.2_Missense_Mutation_p.Y752C|KIAA1324L_uc003uif.2_Missense_Mutation_p.Y618C	p.Y866C	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN			18	2782	-	Esophageal squamous(14;0.0058)		866					A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	37	c.2597A>G	CCDS47632.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.992763	0.74703	.	.	ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314	T;T;T;T	0.04275	3.66;3.66;3.66;3.66	5.59	4.4	0.53042	Mannose-6-phosphate receptor, binding (1);	0.186427	0.49305	D	0.000155	T	0.14614	0.0353	L	0.60455	1.87	0.49915	D	0.999834	D;D;D	0.71674	0.998;0.996;0.996	D;P;P	0.64595	0.927;0.855;0.794	T	0.00563	-1.1669	10	0.44086	T	0.13	.	11.0739	0.48019	0.1389:0.0:0.0:0.8611	.	866;626;699	A8MWY0;A8MWY0-2;B4DJV3	K132L_HUMAN;.;.	C	866;626;795;699	ENSP00000413445:Y866C;ENSP00000297222:Y626C;ENSP00000397377:Y795C;ENSP00000402390:Y699C	ENSP00000297222:Y626C	Y	-	2	0	KIAA1324L	86364846	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	4.090000	0.57693	0.903000	0.36546	0.528000	0.53228	TAT		0.453	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748	
LY96	23643	broad.mit.edu	37	8	74941281	74941281	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr8:74941281T>C	ENST00000284818.2	+	5	566	c.475T>C	c.(475-477)Tca>Cca	p.S159P	LY96_ENST00000518893.1_Missense_Mutation_p.S129P	NM_015364.4	NP_056179	Q9Y6Y9	LY96_HUMAN	lymphocyte antigen 96	159					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	endosome membrane (GO:0010008)|extracellular region (GO:0005576)|lipopolysaccharide receptor complex (GO:0046696)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|lipopolysaccharide receptor activity (GO:0001875)			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			CCAACCTAATTCAAATTAGAA	0.323																																					GBM(131;1357 1748 34893 50149 52212)	uc003yad.3																			0				endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5						c.(475-477)Tca>Cca		Homo sapiens lymphocyte antigen 96 (LY96), transcript variant 1, mRNA.							61.0	61.0	61.0					8																	74941281		2202	4299	6501	SO:0001583	missense	23643				cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding	g.chr8:74941281T>C	AB018549	CCDS6216.1, CCDS56540.1	8q13.3	2004-01-22			ENSG00000154589	ENSG00000154589			17156	protein-coding gene	gene with protein product		605243				10359581, 11466383	Standard	NM_015364		Approved	MD-2	uc003yad.3	Q9Y6Y9	OTTHUMG00000164504	ENST00000284818.2:c.475T>C	8.37:g.74941281T>C	ENSP00000284818:p.Ser159Pro					LY96_uc022awb.1_Missense_Mutation_p.S129P	p.S159P	NM_015364	NP_056179	Q9Y6Y9	LY96_HUMAN	Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)		4	589	+	Breast(64;0.0311)		159					B3Y6A5|E5RJJ7	Missense_Mutation	SNP	ENST00000284818.2	37	c.475T>C	CCDS6216.1	.	.	.	.	.	.	.	.	.	.	T	10.31	1.313592	0.23908	.	.	ENSG00000154589	ENST00000284818;ENST00000518893	T;T	0.44881	2.23;0.91	4.23	-2.59	0.06209	.	1.799640	0.02631	N	0.104310	T	0.20170	0.0485	N	0.22421	0.69	0.09310	N	1	P	0.40032	0.699	B	0.26310	0.068	T	0.12243	-1.0555	10	0.39692	T	0.17	.	1.0319	0.01540	0.2841:0.0965:0.3084:0.311	.	159	Q9Y6Y9	LY96_HUMAN	P	159;129	ENSP00000284818:S159P;ENSP00000430533:S129P	ENSP00000284818:S159P	S	+	1	0	LY96	75103835	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-0.257000	0.08745	-0.456000	0.07043	0.533000	0.62120	TCA		0.323	LY96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379032.2	NM_015364	
RUNX1T1	862	broad.mit.edu	37	8	93017373	93017373	+	Silent	SNP	G	G	A	rs370870343		TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr8:93017373G>A	ENST00000523629.1	-	6	1165	c.711C>T	c.(709-711)aaC>aaT	p.N237N	RUNX1T1_ENST00000422361.2_Silent_p.N200N|RUNX1T1_ENST00000396218.1_Silent_p.N210N|RUNX1T1_ENST00000265814.3_Silent_p.N237N|RUNX1T1_ENST00000360348.2_Silent_p.N200N|RUNX1T1_ENST00000436581.2_Silent_p.N248N|RUNX1T1_ENST00000520724.1_Silent_p.N200N|RUNX1T1_ENST00000518844.1_Silent_p.N210N|RUNX1T1_ENST00000521553.1_Silent_p.N200N	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	237					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TCCCGTTTTCGTTCACATCGA	0.537																																						uc022axs.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86						c.(886-888)aaC>aaT		Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.		G	,,,,,,,,,,,,,,	0,4406		0,0,2203	178.0	158.0	165.0		630,711,711,711,711,711,711,630,651,744,888,630,711,600,600	5.7	1.0	8		165	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RUNX1T1	NM_001198625.1,NM_001198626.1,NM_001198627.1,NM_001198628.1,NM_001198629.1,NM_001198630.1,NM_001198631.1,NM_001198632.1,NM_001198633.1,NM_001198634.1,NM_001198679.1,NM_004349.3,NM_175634.2,NM_175635.2,NM_175636.2	,,,,,,,,,,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,,,,,,,,,	210/578,237/605,237/605,237/605,237/605,237/605,237/605,210/578,217/585,248/616,296/664,210/578,237/605,200/568,200/568	93017373	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:93017373G>A	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.711C>T	8.37:g.93017373G>A						RUNX1T1_uc003yfc.2_Silent_p.N210N|RUNX1T1_uc010mam.3_Silent_p.N210N|RUNX1T1_uc003yfe.2_Silent_p.N200N|RUNX1T1_uc003yfd.3_Silent_p.N237N|RUNX1T1_uc022axo.1_Silent_p.N237N|RUNX1T1_uc010mao.3_Silent_p.N210N|RUNX1T1_uc011lgi.2_Silent_p.N248N|RUNX1T1_uc022axp.1_Silent_p.N237N|RUNX1T1_uc022axq.1_Silent_p.N237N|RUNX1T1_uc022axr.1_Silent_p.N237N|RUNX1T1_uc022axt.1_Silent_p.N237N|RUNX1T1_uc022axu.1_Silent_p.N217N|RUNX1T1_uc022axv.1_Silent_p.N237N|RUNX1T1_uc003yfb.2_Silent_p.N200N|RUNX1T1_uc003yff.1_Silent_p.N200N	p.N296N	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		5	1075	-			237			Poly-Pro.		B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Silent	SNP	ENST00000523629.1	37	c.888C>T	CCDS6256.1																																																																																				0.537	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635	
DENND3	22898	broad.mit.edu	37	8	142186755	142186755	+	Silent	SNP	G	G	A	rs570647400		TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr8:142186755G>A	ENST00000262585.2	+	15	2639	c.2361G>A	c.(2359-2361)gcG>gcA	p.A787A	DENND3_ENST00000519811.1_Silent_p.A867A|DENND3_ENST00000424248.1_Silent_p.A735A	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	787					cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TCAGAGTGGCGTCCAAGAAAG	0.483													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20351	0.0		0.0	False		,,,				2504	0.0					uc003yvy.3																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55						c.(2359-2361)gcG>gcA		Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.							106.0	98.0	101.0					8																	142186755		2203	4300	6503	SO:0001819	synonymous_variant	22898							g.chr8:142186755G>A	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.2361G>A	8.37:g.142186755G>A						DENND3_uc010mep.3_Silent_p.A748A	p.A787A	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		14	2639	+	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		787					B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Silent	SNP	ENST00000262585.2	37	c.2361G>A	CCDS34947.1	.	.	.	.	.	.	.	.	.	.	G	3.888	-0.024549	0.07589	.	.	ENSG00000105339	ENST00000518668	.	.	.	5.23	-0.288	0.12855	.	.	.	.	.	T	0.18882	0.0453	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	T	0.21930	-1.0231	4	.	.	.	-19.3008	0.7227	0.00943	0.4156:0.1541:0.2497:0.1806	.	.	.	.	I	792	.	.	V	+	1	0	DENND3	142255937	0.000000	0.05858	0.138000	0.22173	0.527000	0.34593	-0.515000	0.06290	0.203000	0.20529	-0.143000	0.13931	GTC		0.483	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957	
EPPK1	83481	broad.mit.edu	37	8	144945189	144945189	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr8:144945189G>A	ENST00000525985.1	-	2	2304	c.2233C>T	c.(2233-2235)Cgg>Tgg	p.R745W				P58107	EPIPL_HUMAN	epiplakin 1	745						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TAGCCGCGCCGGTAGGCCACG	0.652																																						uc003zaa.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2233-2235)Cgg>Tgg		Homo sapiens epiplakin 1 (EPPK1), mRNA.							84.0	91.0	89.0					8																	144945189		2053	4178	6231	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144945189G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.2233C>T	8.37:g.144945189G>A	ENSP00000436337:p.Arg745Trp						p.R745W	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		0	2246	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		745					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.2233C>T		.	.	.	.	.	.	.	.	.	.	G	17.64	3.440410	0.63067	.	.	ENSG00000227184	ENST00000525985	T	0.76578	-1.03	5.06	0.61	0.17580	.	.	.	.	.	T	0.76608	0.4011	L	0.55990	1.75	0.25697	N	0.985624	D	0.76494	0.999	P	0.51229	0.663	T	0.66316	-0.5954	9	0.72032	D	0.01	.	7.8763	0.29595	0.0:0.1489:0.3006:0.5505	.	745	E9PPU0	.	W	745	ENSP00000436337:R745W	ENSP00000436337:R745W	R	-	1	2	EPPK1	145017177	0.811000	0.29063	0.988000	0.46212	0.635000	0.38103	0.204000	0.17335	0.251000	0.21505	0.655000	0.94253	CGG		0.652	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308	
SH3GL2	6456	broad.mit.edu	37	9	17791242	17791242	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr9:17791242G>A	ENST00000380607.4	+	7	758	c.638G>A	c.(637-639)aGc>aAc	p.S213N	SH3GL2_ENST00000537391.1_Missense_Mutation_p.S166N	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	213	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of receptor internalization (GO:0002090)|signal transduction (GO:0007165)|synaptic vesicle endocytosis (GO:0048488)	clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		GAACAAGTGAGCCAGCTCTCT	0.478																																						uc003zna.3																			0				NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26						c.(637-639)aGc>aAc		Homo sapiens SH3-domain GRB2-like 2 (SH3GL2), mRNA.							137.0	121.0	127.0					9																	17791242		2203	4300	6503	SO:0001583	missense	6456				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding	g.chr9:17791242G>A	X99657	CCDS6483.1	9p22	2008-02-05			ENSG00000107295	ENSG00000107295			10831	protein-coding gene	gene with protein product		604465				9169142	Standard	XM_005251549		Approved	SH3P4, SH3D2A, CNSA2, EEN-B1	uc003zna.3	Q99962	OTTHUMG00000019601	ENST00000380607.4:c.638G>A	9.37:g.17791242G>A	ENSP00000369981:p.Ser213Asn					SH3GL2_uc011lmy.2_Missense_Mutation_p.S166N	p.S213N	NM_003026	NP_003017	Q99962	SH3G2_HUMAN		GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)	6	926	+			213			BAR.		B2R618|Q9NQK5	Missense_Mutation	SNP	ENST00000380607.4	37	c.638G>A	CCDS6483.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.137861	0.56936	.	.	ENSG00000107295	ENST00000541215;ENST00000397481;ENST00000380607;ENST00000537391	T;T	0.62105	0.05;0.05	5.61	5.61	0.85477	BAR (3);	0.097038	0.64402	D	0.000003	T	0.70090	0.3184	M	0.84433	2.695	0.80722	D	1	B	0.10296	0.003	B	0.17722	0.019	T	0.68492	-0.5394	10	0.54805	T	0.06	.	19.6426	0.95764	0.0:0.0:1.0:0.0	.	213	Q99962	SH3G2_HUMAN	N	42;191;213;166	ENSP00000369981:S213N;ENSP00000443365:S166N	ENSP00000369981:S213N	S	+	2	0	SH3GL2	17781242	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	7.755000	0.85180	2.650000	0.89964	0.655000	0.94253	AGC		0.478	SH3GL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051796.1	NM_003026	
CYLC2	1539	broad.mit.edu	37	9	105767006	105767006	+	Silent	SNP	T	T	C			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr9:105767006T>C	ENST00000374798.3	+	4	280	c.210T>C	c.(208-210)gaT>gaC	p.D70D	CYLC2_ENST00000487798.1_Silent_p.D70D	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	70	31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				TAAGAGGAGATCGTAGACAAC	0.358																																						uc004bbs.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41						c.(208-210)gaT>gaC		Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.							77.0	75.0	76.0					9																	105767006		2203	4300	6503	SO:0001819	synonymous_variant	1539				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:105767006T>C	Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.210T>C	9.37:g.105767006T>C							p.D70D	NM_001340	NP_001331	Q14093	CYLC2_HUMAN			3	280	+		all_hematologic(171;0.125)	70			31 X 3 AA repeats of K-K-X.		B2R8F4|Q5VVJ9	Silent	SNP	ENST00000374798.3	37	c.210T>C	CCDS35085.1																																																																																				0.358	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053463.3	NM_001340	
