#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
MYOM2	9172	broad.mit.edu	37	8	2037956	2037956	+	Silent	SNP	G	G	A			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr8:2037956G>A	ENST00000262113.4	+	15	1911	c.1770G>A	c.(1768-1770)cgG>cgA	p.R590R	MYOM2_ENST00000523438.1_Silent_p.R15R	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	590	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CAGCAAACCGGCATGGCCTGA	0.572																																						ENST00000262113.4																			0				autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(1768-1770)cgG>cgA		myomesin 2							136.0	105.0	115.0					8																	2037956		2203	4300	6503	SO:0001819	synonymous_variant	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2037956G>A		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.1770G>A	8.37:g.2037956G>A						MYOM2_ENST00000523438.1_Silent_p.R15R	p.R590R	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	15	1911	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	590			Fibronectin type-III 2.		Q7Z3Y2	Silent	SNP	ENST00000262113.4	37	c.1770G>A	CCDS5957.1																																																																																				0.572	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		3	36	0	0	0	1	0	3	36				
ST8SIA6	338596	broad.mit.edu	37	10	17362896	17362896	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr10:17362896C>T	ENST00000377602.4	-	8	1252	c.1178G>A	c.(1177-1179)aGc>aAc	p.S393N		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	393					carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycolipid biosynthetic process (GO:0009247)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked glycosylation (GO:0006493)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						TTCACATTTGCTAAATTGCAG	0.378																																						ENST00000377602.4																			0				endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						c.(1177-1179)aGc>aAc		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6							181.0	172.0	175.0					10																	17362896		2203	4300	6503	SO:0001583	missense	338596				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr10:17362896C>T		CCDS31158.1	10p13	2013-03-01	2005-02-07	2005-02-07	ENSG00000148488	ENSG00000148488		"""Sialyltransferases"""	23317	protein-coding gene	gene with protein product	"""ST8Sia VI"""	610139	"""sialyltransferase 8F (alpha-2, 8-sialyltransferase)"""	SIAT8F		11980897	Standard	XR_242697		Approved		uc001ipd.3	P61647	OTTHUMG00000017748	ENST00000377602.4:c.1178G>A	10.37:g.17362896C>T	ENSP00000366827:p.Ser393Asn						p.S393N	NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN			8	1252	-			393					B0YJ97|B9EH72|Q5VZH4	Missense_Mutation	SNP	ENST00000377602.4	37	c.1178G>A	CCDS31158.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.783843	0.70222	.	.	ENSG00000148488	ENST00000377602	T	0.23552	1.9	5.5	5.5	0.81552	.	0.273612	0.46442	D	0.000297	T	0.32496	0.0831	L	0.52206	1.635	0.30220	N	0.796914	P	0.43231	0.801	B	0.43225	0.412	T	0.16217	-1.0410	10	0.54805	T	0.06	-20.235	19.5818	0.95469	0.0:1.0:0.0:0.0	.	393	P61647	SIA8F_HUMAN	N	393	ENSP00000366827:S393N	ENSP00000366827:S393N	S	-	2	0	ST8SIA6	17402902	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.048000	0.49862	2.850000	0.98022	0.650000	0.86243	AGC		0.378	ST8SIA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047036.1	NM_001004470		92	130	0	0	0	1	0	92	130				
DNM2	1785	broad.mit.edu	37	19	10908075	10908075	+	Intron	SNP	G	G	A			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr19:10908075G>A	ENST00000355667.6	+	11	1415				DNM2_ENST00000389253.4_Missense_Mutation_p.D406N|DNM2_ENST00000359692.6_Intron|DNM2_ENST00000408974.4_Missense_Mutation_p.D406N|DNM2_ENST00000585892.1_Intron|DNM2_ENST00000314646.5_Missense_Mutation_p.D406N	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CTTCACCCCCGACATGGCCTT	0.547			"""F, N, Splice, Mis, O"""		ETP ALL																																	ENST00000314646.5				Rec	yes		19	19p13.2	1785	"""F, N, Splice, Mis, O"""	dynamin 2			L			ETP ALL		0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42						c.(1216-1218)Gac>Aac		dynamin 2							49.0	48.0	49.0					19																	10908075		2203	4300	6503	SO:0001627	intron_variant	1785				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	g.chr19:10908075G>A		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.1336-1087G>A	19.37:g.10908075G>A						DNM2_ENST00000408974.4_Missense_Mutation_p.D406N|DNM2_ENST00000585892.1_Intron|DNM2_ENST00000355667.6_Intron|DNM2_ENST00000359692.6_Intron|DNM2_ENST00000389253.4_Missense_Mutation_p.D406N	p.D406N			P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		10	1380	+			406					A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	ENST00000355667.6	37	c.1216G>A	CCDS45968.1	.	.	.	.	.	.	.	.	.	.	G	33	5.241529	0.95272	.	.	ENSG00000079805	ENST00000389252;ENST00000408974;ENST00000389253;ENST00000314646	T;T;T	0.73152	-0.72;-0.72;-0.72	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.86485	0.5944	M	0.87381	2.88	0.80722	D	1	D;P;D	0.89917	0.999;0.94;1.0	D;P;D	0.91635	0.925;0.529;0.999	D	0.88800	0.3284	10	0.87932	D	0	-10.0966	17.7233	0.88358	0.0:0.0:1.0:0.0	.	139;406;406	B4DJ53;A8K1B6;E9PEQ4	.;.;.	N	395;406;406;406	ENSP00000386192:D406N;ENSP00000373905:D406N;ENSP00000313164:D406N	ENSP00000313164:D406N	D	+	1	0	DNM2	10769075	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.833000	0.86765	2.488000	0.83962	0.561000	0.74099	GAC		0.547	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		5	26	0	0	0	1	0	5	26				
NLRP13	126204	broad.mit.edu	37	19	56423307	56423307	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr19:56423307C>T	ENST00000342929.3	-	5	1875	c.1876G>A	c.(1876-1878)Gct>Act	p.A626T	NLRP13_ENST00000588751.1_Missense_Mutation_p.A626T	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	626							ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GCACTTTCAGCCTTACCTAAC	0.403																																						ENST00000588751.1																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109						c.(1876-1878)Gct>Act		NLR family, pyrin domain containing 13							98.0	91.0	93.0					19																	56423307		2203	4300	6503	SO:0001583	missense	126204						ATP binding	g.chr19:56423307C>T	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.1876G>A	19.37:g.56423307C>T	ENSP00000343891:p.Ala626Thr					NLRP13_ENST00000342929.3_Missense_Mutation_p.A626T	p.A626T			Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	5	1900	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	626					Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	c.1876G>A	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	C	4.725	0.134832	0.09032	.	.	ENSG00000173572	ENST00000342929	D	0.87412	-2.25	2.48	-4.66	0.03329	.	.	.	.	.	T	0.70745	0.3259	L	0.29908	0.895	0.09310	N	1	B	0.33739	0.422	B	0.25614	0.062	T	0.58842	-0.7565	9	0.22706	T	0.39	.	4.021	0.09665	0.3417:0.3843:0.274:0.0	.	626	Q86W25	NAL13_HUMAN	T	626	ENSP00000343891:A626T	ENSP00000343891:A626T	A	-	1	0	NLRP13	61115119	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.343000	0.07791	-0.721000	0.04929	-1.233000	0.01565	GCT		0.403	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		13	24	0	0	0	1	0	13	24				
NR0B1	190	broad.mit.edu	37	X	30327411	30327411	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chrX:30327411G>A	ENST00000378970.4	-	1	304	c.70C>T	c.(70-72)Cgc>Tgc	p.R24C	NR0B1_ENST00000453287.1_Missense_Mutation_p.R24C|NR0B1_ENST00000378963.1_5'Flank	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	24	4 X 67 AA tandem repeats.				adrenal gland development (GO:0030325)|gene expression (GO:0010467)|gonad development (GO:0008406)|hypothalamus development (GO:0021854)|intracellular receptor signaling pathway (GO:0030522)|Leydig cell differentiation (GO:0033327)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of cell differentiation (GO:0045596)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|protein localization (GO:0008104)|response to immobilization stress (GO:0035902)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|steroid biosynthetic process (GO:0006694)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	AF-2 domain binding (GO:0050682)|DNA binding (GO:0003677)|DNA hairpin binding (GO:0032448)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|steroid hormone receptor binding (GO:0035258)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	GGAGCCGCGCGCGTTTGCTTC	0.692																																						ENST00000378970.4																			0				central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24						c.(70-72)Cgc>Tgc		nuclear receptor subfamily 0, group B, member 1	Dexamethasone(DB01234)|Tretinoin(DB00755)						9.0	10.0	9.0					X																	30327411		2083	4093	6176	SO:0001583	missense	190				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding	g.chrX:30327411G>A	S74720	CCDS14223.1	Xp21.3	2014-06-28			ENSG00000169297	ENSG00000169297		"""Nuclear hormone receptors"""	7960	protein-coding gene	gene with protein product		300473	"""dosage-sensitive sex reversal"""	AHC, DSS		1301166, 10412368	Standard	NM_000475		Approved	DAX1, AHCH	uc004dcf.4	P51843	OTTHUMG00000021323	ENST00000378970.4:c.70C>T	X.37:g.30327411G>A	ENSP00000368253:p.Arg24Cys					NR0B1_ENST00000453287.1_Missense_Mutation_p.R24C	p.R24C	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN			1	304	-			24			4 X 67 AA tandem repeats.		Q96F69	Missense_Mutation	SNP	ENST00000378970.4	37	c.70C>T	CCDS14223.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.095909	0.36952	.	.	ENSG00000169297	ENST00000378970;ENST00000453287	D;D	0.97352	-3.45;-4.35	4.42	4.42	0.53409	.	1.139750	0.06545	N	0.744025	D	0.95993	0.8695	N	0.19112	0.55	0.09310	N	1	D	0.64830	0.994	P	0.54965	0.765	D	0.90262	0.4301	10	0.87932	D	0	-9.8873	11.4042	0.49887	0.0:0.0:1.0:0.0	.	24	P51843	NR0B1_HUMAN	C	24	ENSP00000368253:R24C;ENSP00000396403:R24C	ENSP00000368253:R24C	R	-	1	0	NR0B1	30237332	0.254000	0.23992	0.006000	0.13384	0.368000	0.29767	4.827000	0.62723	2.167000	0.68274	0.513000	0.50165	CGC		0.692	NR0B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056161.1	NM_000475		8	13	0	0	0	1	0	8	13				
IRAK1	3654	broad.mit.edu	37	X	153284093	153284093	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chrX:153284093G>A	ENST00000369980.3	-	5	853	c.686C>T	c.(685-687)gCg>gTg	p.A229V	IRAK1_ENST00000369974.2_Missense_Mutation_p.A229V|IRAK1_ENST00000429936.2_Missense_Mutation_p.A255V|IRAK1_ENST00000477274.1_5'UTR|IRAK1_ENST00000393682.1_Missense_Mutation_p.A255V|IRAK1_ENST00000393687.2_Missense_Mutation_p.A229V|MIR718_ENST00000390190.2_RNA	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	229	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|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 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|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)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|interleukin-1 receptor complex (GO:0045323)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|NF-kappaB-inducing kinase activity (GO:0004704)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTCATCACCGCCCGGTACAC	0.592																																						ENST00000369980.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25						c.(685-687)gCg>gTg		interleukin-1 receptor-associated kinase 1							175.0	147.0	157.0					X																	153284093		2203	4300	6503	SO:0001583	missense	3654				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity	g.chrX:153284093G>A	L76191	CCDS14740.1, CCDS35443.1, CCDS35444.1	Xq28	2011-07-08			ENSG00000184216	ENSG00000184216			6112	protein-coding gene	gene with protein product		300283				9374458, 8599092	Standard	XM_005274668		Approved	IRAK, pelle	uc004fjs.1	P51617	OTTHUMG00000024228	ENST00000369980.3:c.686C>T	X.37:g.153284093G>A	ENSP00000358997:p.Ala229Val					IRAK1_ENST00000393687.2_Missense_Mutation_p.A229V|IRAK1_ENST00000369974.2_Missense_Mutation_p.A229V|IRAK1_ENST00000429936.2_Missense_Mutation_p.A255V|IRAK1_ENST00000477274.1_5'UTR|IRAK1_ENST00000393682.1_Missense_Mutation_p.A255V	p.A229V	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN			5	853	-	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		229			Protein kinase.		D3DWW3|D3DWW4|Q7Z5V4|Q96C06|Q96RL2	Missense_Mutation	SNP	ENST00000369980.3	37	c.686C>T	CCDS14740.1	.	.	.	.	.	.	.	.	.	.	.	35	5.584123	0.96578	.	.	ENSG00000184216	ENST00000369980;ENST00000369974;ENST00000393682;ENST00000393687;ENST00000429936	T;D;D;T;T	0.94417	1.15;-3.42;-3.42;1.15;1.15	4.43	4.43	0.53597	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.47455	D	0.000234	D	0.96163	0.8749	L	0.55213	1.73	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	D	0.96791	0.9582	10	0.87932	D	0	-18.9444	15.1121	0.72365	0.0:0.0:1.0:0.0	.	229;229;229	P51617-4;P51617;P51617-2	.;IRAK1_HUMAN;.	V	229;229;255;229;255	ENSP00000358997:A229V;ENSP00000358991:A229V;ENSP00000377287:A255V;ENSP00000377291:A229V;ENSP00000392662:A255V	ENSP00000358990:A255V	A	-	2	0	IRAK1	152937287	1.000000	0.71417	0.832000	0.32986	0.971000	0.66376	8.347000	0.90062	1.798000	0.52647	0.529000	0.55759	GCG		0.592	IRAK1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061143.3			20	160	0	0	0	1	0	20	160				
ICOSLG	23308	broad.mit.edu	37	21	45658330	45658330	+	Splice_Site	SNP	C	C	T			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr21:45658330C>T	ENST00000407780.3	-	2	183		c.e2+1		ICOSLG_ENST00000400379.3_Splice_Site|ICOSLG_ENST00000344330.4_Splice_Site|ICOSLG_ENST00000400377.3_Splice_Site	NM_001283052.1	NP_001269981.1	O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand						B cell activation (GO:0042113)|defense response (GO:0006952)|hyperosmotic response (GO:0006972)|positive regulation of activated T cell proliferation (GO:0042104)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		CCTGAACTTACCAGCTCGAAG	0.612																																						ENST00000407780.3																			0				endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5						c.e2+1		inducible T-cell co-stimulator ligand							36.0	42.0	40.0					21																	45658330		1905	4108	6013	SO:0001630	splice_region_variant	23308				B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding	g.chr21:45658330C>T	AB014553	CCDS42952.1, CCDS63377.1, CCDS63379.1	21q22.3	2014-01-30		2005-01-12	ENSG00000160223	ENSG00000160223		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Endogenous ligands"""	17087	protein-coding gene	gene with protein product	"""B7-related protein 1"", ""B7 homologue 2"", ""B7 homolog 2"""	605717		ICOSL		9734811, 11007762	Standard	NM_001283050		Approved	KIAA0653, GL50, B7-H2, B7RP-1, B7H2, B7RP1, ICOS-L, CD275	uc002zee.3	O75144	OTTHUMG00000086920	ENST00000407780.3:c.55+1G>A	21.37:g.45658330C>T						ICOSLG_ENST00000400377.3_Splice_Site|ICOSLG_ENST00000344330.4_Splice_Site|ICOSLG_ENST00000400379.3_Splice_Site				O75144	ICOSL_HUMAN		Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)	2	183	-								A8MUZ1|Q9HD18|Q9NRQ1	Splice_Site	SNP	ENST00000407780.3	37		CCDS42952.1	.	.	.	.	.	.	.	.	.	.	C	8.524	0.869398	0.17322	.	.	ENSG00000160223	ENST00000344330;ENST00000407780;ENST00000400379;ENST00000400377	.	.	.	3.33	3.33	0.38152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.4449	0.44488	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ICOSLG	44482758	0.924000	0.31332	0.959000	0.39883	0.134000	0.20937	1.716000	0.37981	2.170000	0.68504	0.591000	0.81541	.		0.612	ICOSLG-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195838.1	NM_015259	Intron	8	14	0	0	0	1	0	8	14				
TNKS2	80351	broad.mit.edu	37	10	93590720	93590720	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr10:93590720T>C	ENST00000371627.4	+	10	1524	c.1145T>C	c.(1144-1146)aTa>aCa	p.I382T		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	382					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				AGAAAGCAAATATGTGAACTG	0.294																																						ENST00000371627.4																			0				biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48						c.(1144-1146)aTa>aCa		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2							91.0	84.0	86.0					10																	93590720		2203	4298	6501	SO:0001583	missense	80351				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr10:93590720T>C	AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.1145T>C	10.37:g.93590720T>C	ENSP00000360689:p.Ile382Thr						p.I382T	NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN			10	1524	+		Colorectal(252;0.162)	382					B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP	ENST00000371627.4	37	c.1145T>C	CCDS7417.1	.	.	.	.	.	.	.	.	.	.	T	16.03	3.006600	0.54361	.	.	ENSG00000107854	ENST00000371627	T	0.68903	-0.36	5.79	5.79	0.91817	Ankyrin repeat-containing domain (4);	0.090463	0.47455	D	0.000232	T	0.66197	0.2765	L	0.54323	1.7	0.48087	D	0.999589	P	0.37731	0.607	B	0.39935	0.314	T	0.68138	-0.5488	10	0.51188	T	0.08	.	16.1199	0.81342	0.0:0.0:0.0:1.0	.	382	Q9H2K2	TNKS2_HUMAN	T	382	ENSP00000360689:I382T	ENSP00000360689:I382T	I	+	2	0	TNKS2	93580700	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.671000	0.83941	2.194000	0.70268	0.533000	0.62120	ATA		0.294	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235		4	29	0	0	0	1	0	4	29				
DSG1	1828	broad.mit.edu	37	18	28916444	28916444	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr18:28916444A>G	ENST00000257192.4	+	9	1345	c.1133A>G	c.(1132-1134)aAt>aGt	p.N378S		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	378	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			ACTGTGTTAAATGTAATTGAA	0.363																																						ENST00000257192.4																			0				NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(1132-1134)aAt>aGt		desmoglein 1							98.0	89.0	92.0					18																	28916444		2203	4300	6503	SO:0001583	missense	1828				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28916444A>G	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.1133A>G	18.37:g.28916444A>G	ENSP00000257192:p.Asn378Ser						p.N378S	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		9	1345	+			378			Cadherin 3.		B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	c.1133A>G	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	A	14.12	2.439452	0.43326	.	.	ENSG00000134760	ENST00000257192	T	0.61274	0.12	5.57	5.57	0.84162	Cadherin (2);Cadherin-like (1);	0.000000	0.64402	D	0.000005	T	0.80363	0.4609	M	0.92923	3.36	0.80722	D	1	D	0.64830	0.994	D	0.66716	0.946	D	0.85283	0.1063	10	0.87932	D	0	.	13.9502	0.64111	1.0:0.0:0.0:0.0	.	378	Q02413	DSG1_HUMAN	S	378	ENSP00000257192:N378S	ENSP00000257192:N378S	N	+	2	0	DSG1	27170442	1.000000	0.71417	0.099000	0.21106	0.008000	0.06430	6.719000	0.74718	2.109000	0.64355	0.460000	0.39030	AAT		0.363	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		12	56	0	0	0	1	0	12	56				
IGF1	3479	broad.mit.edu	37	12	102813295	102813295	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr12:102813295T>C	ENST00000307046.8	-	3	575	c.394A>G	c.(394-396)Acc>Gcc	p.T132A	IGF1_ENST00000424202.2_Missense_Mutation_p.T116A|IGF1_ENST00000392904.1_Missense_Mutation_p.T132A|IGF1_ENST00000456098.1_Missense_Mutation_p.T132A|IGF1_ENST00000337514.6_Missense_Mutation_p.T132A	NM_001111285.1	NP_001104755.1	P05019	IGF1_HUMAN	insulin-like growth factor 1 (somatomedin C)	132					blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|bone mineralization involved in bone maturation (GO:0035630)|branching morphogenesis of an epithelial tube (GO:0048754)|cell activation (GO:0001775)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|DNA replication (GO:0006260)|exocrine pancreas development (GO:0031017)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|glial cell differentiation (GO:0010001)|glycolate metabolic process (GO:0009441)|inner ear development (GO:0048839)|insulin-like growth factor receptor signaling pathway (GO:0048009)|lung alveolus development (GO:0048286)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|mammary gland development (GO:0030879)|multicellular organism growth (GO:0035264)|muscle hypertrophy (GO:0014896)|muscle organ development (GO:0007517)|myoblast differentiation (GO:0045445)|myoblast proliferation (GO:0051450)|myotube cell development (GO:0014904)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate gland growth (GO:0060736)|prostate gland stromal morphogenesis (GO:0060741)|proteoglycan biosynthetic process (GO:0030166)|Ras protein signal transduction (GO:0007265)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of multicellular organism growth (GO:0040014)|signal transduction (GO:0007165)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|skeletal system development (GO:0001501)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)|water homeostasis (GO:0030104)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|insulin-like growth factor binding protein complex (GO:0016942)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	hormone activity (GO:0005179)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|integrin binding (GO:0005178)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						ACCTTCTGGGTCTTGGGCATG	0.592																																						ENST00000456098.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						c.(394-396)Acc>Gcc		insulin-like growth factor 1 (somatomedin C)							78.0	81.0	80.0					12																	102813295		2203	4300	6503	SO:0001583	missense	3479				anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding	g.chr12:102813295T>C	X00173	CCDS9091.1, CCDS44960.1, CCDS44961.1, CCDS44962.1	12q23.2	2014-09-16			ENSG00000017427	ENSG00000017427		"""Endogenous ligands"""	5464	protein-coding gene	gene with protein product		147440				2982726, 6358902	Standard	NM_001111283		Approved	IGF1A, IGFI, IGF-I	uc001tjp.4	P05019	OTTHUMG00000149910	ENST00000307046.8:c.394A>G	12.37:g.102813295T>C	ENSP00000302665:p.Thr132Ala					IGF1_ENST00000337514.6_Missense_Mutation_p.T132A|IGF1_ENST00000424202.2_Missense_Mutation_p.T116A|IGF1_ENST00000307046.8_Missense_Mutation_p.T132A|IGF1_ENST00000392904.1_Missense_Mutation_p.T132A	p.T132A	NM_001111283.1	NP_001104753.1	P05019	IGF1_HUMAN			3	612	-			132					B2RWM7|E9PD02|P01343|Q14620	Missense_Mutation	SNP	ENST00000307046.8	37	c.394A>G	CCDS44962.1	.	.	.	.	.	.	.	.	.	.	T	5.134	0.210367	0.09757	.	.	ENSG00000017427	ENST00000456098;ENST00000337514;ENST00000392904;ENST00000424202;ENST00000392905;ENST00000307046	D;D;D;D;D;D	0.96685	-4.08;-4.06;-4.08;-4.07;-4.09;-3.09	5.85	4.88	0.63580	.	0.182293	0.47093	N	0.000249	D	0.86564	0.5963	N	0.04787	-0.16	0.40792	D	0.983267	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.001	T	0.79142	-0.1925	10	0.02654	T	1	-15.7097	6.1781	0.20455	0.0:0.8117:0.0:0.1883	.	132;163;116;132	P05019;Q59GC5;Q14620;E9PD02	IGF1_HUMAN;.;.;.	A	132;132;132;116;113;132	ENSP00000394999:T132A;ENSP00000337612:T132A;ENSP00000376637:T132A;ENSP00000416811:T116A;ENSP00000376638:T113A;ENSP00000302665:T132A	ENSP00000302665:T132A	T	-	1	0	IGF1	101337425	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.419000	0.44671	1.252000	0.44001	0.533000	0.62120	ACC		0.592	IGF1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313855.1	NM_000618		14	21	0	0	0	1	0	14	21				
KLHL26	55295	broad.mit.edu	37	19	18775153	18775153	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr19:18775153C>T	ENST00000300976.4	+	2	256	c.166C>T	c.(166-168)Ctc>Ttc	p.L56F	KLHL26_ENST00000595182.1_Missense_Mutation_p.L56F|KLHL26_ENST00000599006.1_Missense_Mutation_p.L56F|KLHL26_ENST00000596843.1_3'UTR	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	56										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CCTGGCCACCCTCCGCGCTCA	0.637																																						ENST00000300976.4																			0				breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(166-168)Ctc>Ttc		kelch-like family member 26							94.0	104.0	100.0					19																	18775153		2203	4300	6503	SO:0001583	missense	55295							g.chr19:18775153C>T		CCDS12384.1	19p13.11	2013-10-15	2013-02-22		ENSG00000167487	ENSG00000167487		"""Kelch-like"", ""BTB/POZ domain containing"""	25623	protein-coding gene	gene with protein product			"""kelch-like 26 (Drosophila)"""				Standard	XM_006722785		Approved		uc002njz.1	Q53HC5	OTTHUMG00000183114	ENST00000300976.4:c.166C>T	19.37:g.18775153C>T	ENSP00000300976:p.Leu56Phe					KLHL26_ENST00000596843.1_3'UTR|KLHL26_ENST00000595182.1_Missense_Mutation_p.L56F|KLHL26_ENST00000599006.1_Missense_Mutation_p.L56F	p.L56F	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN			2	256	+			56					Q8TAP0|Q9NUX3	Missense_Mutation	SNP	ENST00000300976.4	37	c.166C>T	CCDS12384.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.433753	0.62955	.	.	ENSG00000167487	ENST00000431920;ENST00000300976	T	0.74209	-0.82	4.14	4.14	0.48551	BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.64402	D	0.000003	D	0.82536	0.5058	M	0.64404	1.975	0.58432	D	0.999997	D	0.63880	0.993	D	0.63381	0.914	D	0.84241	0.0472	10	0.52906	T	0.07	.	15.7475	0.77958	0.0:1.0:0.0:0.0	.	56	Q53HC5	KLH26_HUMAN	F	56	ENSP00000300976:L56F	ENSP00000300976:L56F	L	+	1	0	KLHL26	18636153	1.000000	0.71417	0.172000	0.22920	0.941000	0.58515	4.397000	0.59690	2.016000	0.59253	0.561000	0.74099	CTC		0.637	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465145.1	NM_018316		54	68	0	0	0	1	0	54	68				
TRIM2	23321	broad.mit.edu	37	4	154216540	154216540	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr4:154216540G>A	ENST00000437508.2	+	6	982	c.781G>A	c.(781-783)Gcc>Acc	p.A261T	TRIM2_ENST00000338700.5_Missense_Mutation_p.A288T|TRIM2_ENST00000494872.1_3'UTR	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	261					cell death (GO:0008219)|regulation of neuron apoptotic process (GO:0043523)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		CACAGCGCAGGCCCTCAACCA	0.617																																						ENST00000338700.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19						c.(862-864)Gcc>Acc		tripartite motif containing 2							53.0	46.0	48.0					4																	154216540		2203	4300	6503	SO:0001583	missense	23321					cytoplasm	zinc ion binding	g.chr4:154216540G>A	AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15974	protein-coding gene	gene with protein product		614141	"""tripartite motif-containing 2"""			9628581, 11331580	Standard	NM_015271		Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000437508.2:c.781G>A	4.37:g.154216540G>A	ENSP00000415812:p.Ala261Thr					TRIM2_ENST00000494872.1_3'UTR|TRIM2_ENST00000437508.2_Missense_Mutation_p.A261T	p.A288T	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)	6	927	+	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)	261					D3DP09|O60272|Q9BSI9|Q9UFZ1	Missense_Mutation	SNP	ENST00000437508.2	37	c.862G>A	CCDS47147.1	.	.	.	.	.	.	.	.	.	.	G	34	5.307076	0.95629	.	.	ENSG00000109654	ENST00000437508;ENST00000338700	T;T	0.71341	-0.56;-0.56	5.31	5.31	0.75309	B-box, C-terminal (1);	0.091977	0.85682	D	0.000000	D	0.82995	0.5158	M	0.65975	2.015	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.72338	0.977;0.977	T	0.81462	-0.0922	10	0.39692	T	0.17	-2.5286	19.3326	0.94297	0.0:0.0:1.0:0.0	.	288;261	D3DP09;Q9C040	.;TRIM2_HUMAN	T	261;288	ENSP00000415812:A261T;ENSP00000339659:A288T	ENSP00000339659:A288T	A	+	1	0	TRIM2	154435990	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.375000	0.97178	2.639000	0.89480	0.561000	0.74099	GCC		0.617	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342652.1			10	2	0	0	0	1	0	10	2				
LANCL1	10314	broad.mit.edu	37	2	211302538	211302538	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr2:211302538T>C	ENST00000443314.1	-	6	1091	c.749A>G	c.(748-750)tAc>tGc	p.Y250C	LANCL1_ENST00000431941.2_Missense_Mutation_p.Y250C|LANCL1_ENST00000450366.2_Missense_Mutation_p.Y250C|AC007970.1_ENST00000433296.1_RNA|LANCL1_ENST00000233714.4_Missense_Mutation_p.Y250C|LANCL1_ENST00000441020.3_Missense_Mutation_p.Y250C|AC007970.1_ENST00000420418.1_RNA			O43813	LANC1_HUMAN	LanC lantibiotic synthetase component C-like 1 (bacterial)	250					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|G-protein coupled receptor activity (GO:0004930)|glutathione binding (GO:0043295)|low-density lipoprotein particle receptor binding (GO:0050750)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		CTGGCAGACGTAGTCTACACT	0.463																																						ENST00000443314.1																			0				breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						c.(748-750)tAc>tGc		LanC lantibiotic synthetase component C-like 1 (bacterial)							97.0	90.0	93.0					2																	211302538		2203	4300	6503	SO:0001583	missense	10314					cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding	g.chr2:211302538T>C	Y11395	CCDS2392.1	2q33-q35	2008-05-23	2001-12-04		ENSG00000115365	ENSG00000115365			6508	protein-coding gene	gene with protein product		604155	"""LanC (bacterial lantibiotic synthetase component C)-like 1"""	GPR69A		9512664	Standard	NM_001136574		Approved	p40	uc010zjh.2	O43813	OTTHUMG00000132991	ENST00000443314.1:c.749A>G	2.37:g.211302538T>C	ENSP00000388713:p.Tyr250Cys					LANCL1_ENST00000441020.3_Missense_Mutation_p.Y250C|AC007970.1_ENST00000433296.1_RNA|AC007970.1_ENST00000420418.1_RNA|LANCL1_ENST00000431941.2_Missense_Mutation_p.Y250C|LANCL1_ENST00000450366.2_Missense_Mutation_p.Y250C|LANCL1_ENST00000233714.4_Missense_Mutation_p.Y250C	p.Y250C			O43813	LANC1_HUMAN		Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)	6	1091	-			250						Missense_Mutation	SNP	ENST00000443314.1	37	c.749A>G	CCDS2392.1	.	.	.	.	.	.	.	.	.	.	T	17.40	3.379027	0.61735	.	.	ENSG00000115365	ENST00000443314;ENST00000441020;ENST00000450366;ENST00000233714;ENST00000431941	T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71	5.62	4.45	0.53987	Six-hairpin glycosidase-like (1);	0.110918	0.64402	D	0.000005	T	0.68495	0.3007	M	0.88640	2.97	0.46981	D	0.999271	D	0.63880	0.993	D	0.63381	0.914	T	0.71846	-0.4469	10	0.59425	D	0.04	.	9.9382	0.41563	0.3217:0.0:0.0:0.6783	.	250	O43813	LANC1_HUMAN	C	250	ENSP00000388713:Y250C;ENSP00000393323:Y250C;ENSP00000393597:Y250C;ENSP00000233714:Y250C;ENSP00000397646:Y250C	ENSP00000233714:Y250C	Y	-	2	0	LANCL1	211010783	0.999000	0.42202	0.921000	0.36526	0.712000	0.41017	3.108000	0.50337	0.939000	0.37446	0.482000	0.46254	TAC		0.463	LANCL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336817.1	NM_006055		5	56	0	0	0	1	0	5	56				
PDE3A	5139	broad.mit.edu	37	12	20783011	20783011	+	Silent	SNP	T	T	C			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr12:20783011T>C	ENST00000359062.3	+	6	1750	c.1710T>C	c.(1708-1710)agT>agC	p.S570S	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	570					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	ACACTCAGAGTGCCCCAGACC	0.423																																						ENST00000359062.3																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58						c.(1708-1710)agT>agC		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						146.0	146.0	146.0					12																	20783011		2203	4300	6503	SO:0001819	synonymous_variant	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20783011T>C		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1710T>C	12.37:g.20783011T>C						PDE3A_ENST00000544307.1_3'UTR	p.S570S	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN			6	1750	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	570					O60865|Q13348|Q17RD1	Silent	SNP	ENST00000359062.3	37	c.1710T>C	CCDS31754.1																																																																																				0.423	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			39	139	0	0	0	1	0	39	139				
ASPM	259266	broad.mit.edu	37	1	197070715	197070715	+	Missense_Mutation	SNP	C	C	T	rs587783269		TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr1:197070715C>T	ENST00000367409.4	-	18	7922	c.7666G>A	c.(7666-7668)Gct>Act	p.A2556T	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2556	IQ 27. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ACGATAGAAGCTTTGTGTTTT	0.348																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(7666-7668)Gct>Act		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							71.0	64.0	66.0					1																	197070715		2203	4298	6501	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197070715C>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.7666G>A	1.37:g.197070715C>T	ENSP00000356379:p.Ala2556Thr					ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	p.A2556T	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			18	7922	-			2556			IQ 27.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.7666G>A	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772158	0.90108	.	.	ENSG00000066279	ENST00000367409;ENST00000367406	T	0.75477	-0.94	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.88804	0.6536	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	0.974;1.0	P;D	0.97110	0.763;1.0	D	0.90511	0.4481	10	0.66056	D	0.02	.	18.9857	0.92769	0.0:1.0:0.0:0.0	.	542;2556	E7EQ84;Q8IZT6	.;ASPM_HUMAN	T	2556;542	ENSP00000356379:A2556T	ENSP00000356376:A542T	A	-	1	0	ASPM	195337338	1.000000	0.71417	0.971000	0.41717	0.717000	0.41224	5.828000	0.69307	2.540000	0.85666	0.557000	0.71058	GCT		0.348	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		20	53	0	0	0	1	0	20	53				
SLC35C2	51006	broad.mit.edu	37	20	44979079	44979079	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr20:44979079C>G	ENST00000372227.1	-	10	1592	c.1052G>C	c.(1051-1053)gGt>gCt	p.G351A	SLC35C2_ENST00000243896.2_Missense_Mutation_p.G351A|SLC35C2_ENST00000372230.5_Missense_Mutation_p.G351A|SLC35C2_ENST00000317734.8_Missense_Mutation_p.G330A|SLC35C2_ENST00000372229.1_Missense_Mutation_p.G218A|SLC35C2_ENST00000543605.1_Missense_Mutation_p.G380A|SLC35C2_ENST00000493599.1_5'UTR	NM_001281458.1|NM_001281460.1	NP_001268387.1|NP_001268389.1	Q9NQQ7	S35C2_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C2	351					negative regulation of gene expression (GO:0010629)|positive regulation of Notch signaling pathway (GO:0045747)|protein O-linked fucosylation (GO:0036066)|transport (GO:0006810)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				CTCATTGTCACCTTCCTCCCG	0.642																																						ENST00000372227.1																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16						c.(1051-1053)gGt>gCt		solute carrier family 35 (GDP-fucose transporter), member C2							78.0	66.0	70.0					20																	44979079		2203	4300	6503	SO:0001583	missense	51006				transport	integral to membrane		g.chr20:44979079C>G		CCDS13396.1, CCDS13397.1, CCDS63292.1	20q13.12	2013-07-17	2013-07-17	2003-10-10	ENSG00000080189	ENSG00000080189		"""Solute carriers"""	17117	protein-coding gene	gene with protein product			"""ovarian cancer overexpressed 1"", ""solute carrier family 35, member C2"""	C20orf5, OVCOV1		10810093, 11549316	Standard	NM_173179		Approved	CGI-15, bA394O2.1	uc002xrq.3	Q9NQQ7	OTTHUMG00000033050	ENST00000372227.1:c.1052G>C	20.37:g.44979079C>G	ENSP00000361301:p.Gly351Ala					SLC35C2_ENST00000243896.2_Missense_Mutation_p.G351A|SLC35C2_ENST00000372230.5_Missense_Mutation_p.G351A|SLC35C2_ENST00000493599.1_5'UTR|SLC35C2_ENST00000372229.1_Missense_Mutation_p.G218A|SLC35C2_ENST00000317734.8_Missense_Mutation_p.G330A|SLC35C2_ENST00000543605.1_Missense_Mutation_p.G380A	p.G351A			Q9NQQ7	S35C2_HUMAN			10	1592	-		Myeloproliferative disorder(115;0.0122)	351					B7Z6V6|E1P5T0|Q53GK3|Q5JW05|Q96CJ8|Q9Y304	Missense_Mutation	SNP	ENST00000372227.1	37	c.1052G>C	CCDS13396.1	.	.	.	.	.	.	.	.	.	.	C	8.379	0.837064	0.16891	.	.	ENSG00000080189	ENST00000317734;ENST00000243896;ENST00000372227;ENST00000372229;ENST00000372230;ENST00000372225;ENST00000543605	T;T	0.76448	-1.02;0.93	4.63	2.39	0.29439	.	0.419384	0.21819	N	0.068643	T	0.50718	0.1632	N	0.08118	0	0.09310	N	1	B;B;B;B	0.09022	0.002;0.0;0.001;0.0	B;B;B;B	0.13407	0.009;0.003;0.009;0.004	T	0.31806	-0.9930	10	0.08837	T	0.75	0.0032	5.6871	0.17809	0.0:0.2244:0.0:0.7756	.	380;216;330;351	F5H4T9;B7Z6R4;Q9NQQ7-2;Q9NQQ7	.;.;.;S35C2_HUMAN	A	330;351;351;218;351;219;380	ENSP00000318960:G330A;ENSP00000361303:G218A	ENSP00000243896:G351A	G	-	2	0	SLC35C2	44412486	0.026000	0.19158	0.003000	0.11579	0.939000	0.58152	0.975000	0.29449	0.310000	0.22990	-0.302000	0.09304	GGT		0.642	SLC35C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080363.1	NM_015945		18	44	0	0	0	1	0	18	44				
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	byFrequency	TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr16:90161926T>C	ENST00000564451.1	+	0	1279				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527													.|||	3140	0.626997	0.9395	0.5	5008	,	,		11330	0.7847		0.4702	False		,,,				2504	0.2935					ENST00000564451.1																			3	Substitution - Missense(3)	p.I221T(3)	kidney(2)|prostate(1)																																																0							g.chr16:90161926T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161926T>C						TUBB8P7_ENST00000567960.1_RNA								0	1279	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.527	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		3	28	0	0	0	1	0	3	28				
POTEC	388468	broad.mit.edu	37	18	14542921	14542921	+	Silent	SNP	G	G	A			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr18:14542921G>A	ENST00000358970.5	-	1	224	c.225C>T	c.(223-225)agC>agT	p.S75S	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	75								p.S75S(1)|p.S75R(1)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGCTCGTGCCGCTCCCCCTGC	0.567																																						ENST00000358970.5																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.S75S(1)|p.S75R(1)	lung(1)|kidney(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(223-225)agC>agT		POTE ankyrin domain family, member C							43.0	53.0	50.0					18																	14542921		692	1591	2283	SO:0001819	synonymous_variant	388468							g.chr18:14542921G>A	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.225C>T	18.37:g.14542921G>A						POTEC_ENST00000389891.4_5'UTR	p.S75S	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			1	224	-			75						Silent	SNP	ENST00000358970.5	37	c.225C>T	CCDS45835.1																																																																																				0.567	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		28	222	0	0	0	1	0	28	222				
DCAF8L1	139425	broad.mit.edu	37	X	27998106	27998106	+	Missense_Mutation	SNP	C	C	A	rs138650117		TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chrX:27998106C>A	ENST00000441525.1	-	1	1460	c.1346G>T	c.(1345-1347)cGg>cTg	p.R449L		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	449								p.R449L(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						AAACTCACTCCGGGGGCCATA	0.463																																						ENST00000441525.1																			1	Substitution - Missense(1)	p.R449L(1)	lung(1)	NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						c.(1345-1347)cGg>cTg		DDB1 and CUL4 associated factor 8-like 1							41.0	36.0	38.0					X																	27998106		2202	4300	6502	SO:0001583	missense	139425							g.chrX:27998106C>A		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.1346G>T	X.37:g.27998106C>A	ENSP00000405222:p.Arg449Leu						p.R449L	NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN			1	1460	-			449					B3KXX1	Missense_Mutation	SNP	ENST00000441525.1	37	c.1346G>T	CCDS35222.1	.	.	.	.	.	.	.	.	.	.	c	12.91	2.079015	0.36662	.	.	ENSG00000226372	ENST00000441525	T	0.81247	-1.47	0.842	-0.12	0.13539	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.862399	0.10300	N	0.691227	T	0.81749	0.4888	M	0.78049	2.395	0.29526	N	0.853127	P	0.46784	0.884	P	0.48089	0.566	T	0.74115	-0.3769	9	0.59425	D	0.04	-1.237	.	.	.	.	449	A6NGE4	DC8L1_HUMAN	L	449	ENSP00000405222:R449L	ENSP00000405222:R449L	R	-	2	0	DCAF8L1	27908027	0.401000	0.25303	0.236000	0.24074	0.075000	0.17131	0.423000	0.21313	-0.103000	0.12175	-0.734000	0.03567	CGG		0.463	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690		3	33	1	0	0.00024832	1	0.000258962	3	33				
SLC17A9	63910	broad.mit.edu	37	20	61594021	61594021	+	Silent	SNP	C	C	T	rs200256067		TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr20:61594021C>T	ENST00000370351.4	+	5	674	c.543C>T	c.(541-543)taC>taT	p.Y181Y	SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370349.3_Silent_p.Y175Y	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	181					exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						TGGAATGGTACGGCTGGCAGA	0.637													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16555	0.0		0.0	False		,,,				2504	0.0					ENST00000370349.3																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						c.(523-525)taC>taT		solute carrier family 17 (vesicular nucleotide transporter), member 9							93.0	112.0	106.0					20																	61594021		2000	4157	6157	SO:0001819	synonymous_variant	63910				exocytosis|transmembrane transport	integral to membrane	transporter activity	g.chr20:61594021C>T	AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"""Solute carriers"""	16192	protein-coding gene	gene with protein product		612107	"""chromosome 20 open reading frame 59"", ""solute carrier family 17, member 9"""	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.543C>T	20.37:g.61594021C>T						SLC17A9_ENST00000370351.4_Silent_p.Y181Y|SLC17A9_ENST00000488738.1_3'UTR	p.Y175Y			Q9BYT1	S17A9_HUMAN			6	729	+			181					B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Silent	SNP	ENST00000370351.4	37	c.525C>T	CCDS42901.1																																																																																				0.637	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080100.1	NM_022082		10	78	0	0	0	1	0	10	78				
NXT2	55916	broad.mit.edu	37	X	108780167	108780167	+	5'UTR	SNP	C	C	T			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chrX:108780167C>T	ENST00000372106.1	+	0	63				NXT2_ENST00000372107.1_5'UTR|NXT2_ENST00000372103.1_5'Flank|NXT2_ENST00000218004.1_Splice_Site_p.P33S	NM_001242617.1	NP_001229546.1	Q9NPJ8	NXT2_HUMAN	nuclear transport factor 2-like export factor 2						mRNA transport (GO:0051028)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	6						ATTCCGCAGCCCTGCGGACCG	0.572																																						ENST00000218004.1																			0				endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	6						c.e2-1		nuclear transport factor 2-like export factor 2							73.0	54.0	60.0					X																	108780167		2203	4300	6503	SO:0001623	5_prime_UTR_variant	55916				mRNA transport|protein transport	cytoplasm|nucleus		g.chrX:108780167C>T	AF246127	CCDS14546.1, CCDS56605.1, CCDS56606.1	Xq22.3	2008-02-05			ENSG00000101888	ENSG00000101888			18151	protein-coding gene	gene with protein product		300320				11073998	Standard	NM_018698		Approved	P15-2	uc004eoe.2	Q9NPJ8	OTTHUMG00000022185	ENST00000372106.1:c.-69C>T	X.37:g.108780167C>T						NXT2_ENST00000372106.1_5'UTR|NXT2_ENST00000372107.1_5'UTR	p.P33_splice	NM_018698.4	NP_061168.2	Q9NPJ8	NXT2_HUMAN			2	199	+			0			NTF2.		D3DUY1|Q0VAN8|Q5JYV5|Q5JYV6|Q5JYV7|Q9H8U0|Q9NQ64|Q9NRL7|Q9Y3M4|Q9Y3M5	Splice_Site	SNP	ENST00000372106.1	37	c.95_splice	CCDS56605.1	.	.	.	.	.	.	.	.	.	.	C	5.125	0.208764	0.09757	.	.	ENSG00000101888	ENST00000218004	.	.	.	4.69	-1.18	0.09617	.	3.984890	0.00589	N	0.000344	T	0.14141	0.0342	.	.	.	0.09310	N	0.999996	B	0.02656	0.0	B	0.04013	0.001	T	0.12967	-1.0527	8	0.06365	T	0.9	.	2.1255	0.03737	0.1267:0.4115:0.1228:0.339	.	33	Q9NPJ8-3	.	S	33	.	ENSP00000218004:P33S	P	+	1	0	NXT2	108666823	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.403000	0.02497	-0.751000	0.04734	-0.905000	0.02835	CCT		0.572	NXT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057886.1	NM_018698		12	12	0	0	0	1	0	12	12				
HIST1H2BC	8347	broad.mit.edu	37	6	26124122	26124122	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr6:26124122G>A	ENST00000314332.5	-	1	16	c.11C>T	c.(10-12)cCa>cTa	p.P4L	HIST1H2AC_ENST00000377791.2_5'Flank|HIST1H2AC_ENST00000602637.1_5'Flank|HIST1H2BC_ENST00000396984.1_Missense_Mutation_p.P4L			P62807	H2B1C_HUMAN	histone cluster 1, H2bc	4					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						AGACTTGGCTGGCTCAGGCAT	0.507																																						ENST00000314332.5																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						c.(10-12)cCa>cTa		histone cluster 1, H2bc							77.0	78.0	78.0					6																	26124122		2203	4300	6503	SO:0001583	missense	8347				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26124122G>A	Z80783	CCDS4584.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000180596	ENSG00000180596		"""Histones / Replication-dependent"""	4757	protein-coding gene	gene with protein product		602847	"""H2B histone family, member L"", ""histone 1, H2bc"""	H2BFL		9119399, 12408966	Standard	NM_003526		Approved	H2B/l, H2B.1	uc003ngl.3	P62807	OTTHUMG00000014425	ENST00000314332.5:c.11C>T	6.37:g.26124122G>A	ENSP00000321744:p.Pro4Leu					HIST1H2BC_ENST00000396984.1_Missense_Mutation_p.P4L	p.P4L			P62807	H2B1C_HUMAN			1	16	-			4					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000314332.5	37	c.11C>T	CCDS4584.1	.	.	.	.	.	.	.	.	.	.	.	18.25	3.581458	0.65992	.	.	ENSG00000180596	ENST00000314332;ENST00000396984	T;T	0.18960	2.18;2.18	5.76	4.88	0.63580	Histone-fold (1);	.	.	.	.	T	0.32010	0.0815	.	.	.	0.47659	D	0.999488	D	0.64830	0.994	P	0.62885	0.908	T	0.00555	-1.1673	8	0.39692	T	0.17	.	14.8307	0.70146	0.0725:0.0:0.9275:0.0	.	4	P62807	H2B1C_HUMAN	L	4	ENSP00000321744:P4L;ENSP00000380180:P4L	ENSP00000321744:P4L	P	-	2	0	HIST1H2BC	26232101	1.000000	0.71417	0.996000	0.52242	0.873000	0.50193	6.347000	0.73004	2.879000	0.98667	0.650000	0.86243	CCA		0.507	HIST1H2BC-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468022.1	NM_003526		8	102	0	0	0	1	0	8	102				
PKP3	11187	broad.mit.edu	37	11	399104	399104	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr11:399104A>G	ENST00000331563.2	+	5	1257	c.1181A>G	c.(1180-1182)gAc>gGc	p.D394G		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	394					desmosome assembly (GO:0002159)|establishment of protein localization to plasma membrane (GO:0090002)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|desmosome (GO:0030057)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GACAACGCTGACAACAAGCTG	0.597																																						ENST00000331563.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(1180-1182)gAc>gGc		plakophilin 3							137.0	117.0	124.0					11																	399104		2196	4292	6488	SO:0001583	missense	11187				cell adhesion	desmosome|nucleus	binding	g.chr11:399104A>G	Z98265	CCDS7695.1	11p15	2013-02-14			ENSG00000184363	ENSG00000184363		"""Armadillo repeat containing"""	9025	protein-coding gene	gene with protein product		605561				10374265	Standard	XM_005252760		Approved		uc001lpc.3	Q9Y446	OTTHUMG00000119068	ENST00000331563.2:c.1181A>G	11.37:g.399104A>G	ENSP00000331678:p.Asp394Gly						p.D394G	NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	5	1257	+		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	394					F8J390|Q53EX8	Missense_Mutation	SNP	ENST00000331563.2	37	c.1181A>G	CCDS7695.1	.	.	.	.	.	.	.	.	.	.	a	15.16	2.750040	0.49257	.	.	ENSG00000184363	ENST00000331563	T	0.52754	0.65	3.83	3.83	0.44106	Armadillo-like helical (1);Armadillo-type fold (1);	0.135251	0.49305	D	0.000144	T	0.52613	0.1745	M	0.73598	2.24	0.36613	D	0.875302	P	0.50443	0.935	P	0.45829	0.494	T	0.68296	-0.5446	10	0.72032	D	0.01	-29.2238	12.914	0.58195	1.0:0.0:0.0:0.0	.	394	Q9Y446	PKP3_HUMAN	G	394	ENSP00000331678:D394G	ENSP00000331678:D394G	D	+	2	0	PKP3	389104	1.000000	0.71417	0.967000	0.41034	0.331000	0.28603	6.934000	0.75880	1.534000	0.49203	0.398000	0.26397	GAC		0.597	PKP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239281.1	NM_007183		6	36	0	0	0	1	0	6	36				
ACTRT2	140625	broad.mit.edu	37	1	2938806	2938806	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr1:2938806G>A	ENST00000378404.2	+	1	761	c.556G>A	c.(556-558)Ggc>Agc	p.G186S		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	186						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CCACGTGGCGGGCAGGGACAT	0.637																																						ENST00000378404.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(556-558)Ggc>Agc		actin-related protein T2							44.0	44.0	44.0					1																	2938806		2202	4300	6502	SO:0001583	missense	140625					cytoplasm|cytoskeleton		g.chr1:2938806G>A	AF440740, AB057364	CCDS45.1	1p36.3	2008-02-05	2005-11-22		ENSG00000169717	ENSG00000169717			24026	protein-coding gene	gene with protein product		608535				11750065, 12243744	Standard	NM_080431		Approved	Arp-T2, ARPM2, FLJ25424	uc001ajz.3	Q8TDY3	OTTHUMG00000000562	ENST00000378404.2:c.556G>A	1.37:g.2938806G>A	ENSP00000367658:p.Gly186Ser						p.G186S	NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)	1	761	+	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	186					B1AN52|Q8NHS6|Q8TDG1	Missense_Mutation	SNP	ENST00000378404.2	37	c.556G>A	CCDS45.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.958095	0.92726	.	.	ENSG00000169717	ENST00000378404;ENST00000543312	T	0.55052	0.54	4.85	4.85	0.62838	.	0.000000	0.56097	D	0.000025	T	0.80808	0.4694	H	0.96777	3.88	0.80722	D	1	D	0.76494	0.999	D	0.64506	0.926	D	0.88067	0.2798	10	0.87932	D	0	.	16.5311	0.84359	0.0:0.0:1.0:0.0	.	186	Q8TDY3	ACTT2_HUMAN	S	186	ENSP00000367658:G186S	ENSP00000367658:G186S	G	+	1	0	ACTRT2	2928666	1.000000	0.71417	0.893000	0.35052	0.961000	0.63080	9.671000	0.98627	2.228000	0.72767	0.561000	0.74099	GGC		0.637	ACTRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001331.1	NM_080431		6	20	0	0	0	1	0	6	20				
CKAP5	9793	broad.mit.edu	37	11	46782334	46782334	+	Splice_Site	SNP	G	G	A			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr11:46782334G>A	ENST00000529230.1	-	33	4268	c.4222C>T	c.(4222-4224)Ctt>Ttt	p.L1408F	CKAP5_ENST00000312055.5_Splice_Site_p.L1408F|SNORD67_ENST00000390833.1_RNA|SNORD67_ENST00000516618.1_RNA|CKAP5_ENST00000354558.3_Splice_Site_p.L1408F|CKAP5_ENST00000415402.1_Splice_Site_p.L1408F			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1408					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TTTTCAGAAAGCTGTAAAGAG	0.388																																					Ovarian(4;85 273 2202 4844 13323)	ENST00000529230.1																			0				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						c.e33-1		cytoskeleton associated protein 5							91.0	85.0	87.0					11																	46782334		2201	4299	6500	SO:0001630	splice_region_variant	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	g.chr11:46782334G>A		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.4222-1C>T	11.37:g.46782334G>A						CKAP5_ENST00000354558.3_Splice_Site_p.L1408_splice|CKAP5_ENST00000415402.1_Splice_Site_p.L1408_splice|CKAP5_ENST00000312055.5_Splice_Site_p.L1408_splice	p.L1408_splice			Q14008	CKAP5_HUMAN			33	4268	-			1408					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Splice_Site	SNP	ENST00000529230.1	37	c.4221_splice	CCDS31477.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703164	0.68501	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558;ENST00000526876	T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49	5.92	5.92	0.95590	Armadillo-like helical (1);Armadillo-type fold (1);CLASP N-terminal domain (1);	0.000000	0.85682	D	0.000000	D	0.87301	0.6143	M	0.87971	2.92	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.998	D	0.88282	0.2937	10	0.87932	D	0	-0.6423	20.3081	0.98638	0.0:0.0:1.0:0.0	.	1408;1408;1408	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	F	1408;1408;1408;1408;131	ENSP00000432768:L1408F;ENSP00000395302:L1408F;ENSP00000310227:L1408F;ENSP00000346566:L1408F	ENSP00000310227:L1408F	L	-	1	0	CKAP5	46738910	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	6.572000	0.74005	2.795000	0.96236	0.655000	0.94253	CTT		0.388	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756	Missense_Mutation	7	43	0	0	0	1	0	7	43				
A1CF	29974	broad.mit.edu	37	10	52573649	52573649	+	Silent	SNP	A	A	G			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr10:52573649A>G	ENST00000373993.1	-	8	1359	c.1315T>C	c.(1315-1317)Tta>Cta	p.L439L	A1CF_ENST00000374001.2_Silent_p.L431L|A1CF_ENST00000395489.2_Silent_p.L432L|A1CF_ENST00000373995.3_Silent_p.L439L|A1CF_ENST00000395495.1_Silent_p.L384L|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000282641.2_Silent_p.L439L|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000373997.3_Silent_p.L431L			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	439					cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TGGGGTTTTAATGTGACAGGA	0.418																																						ENST00000395489.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.(1294-1296)Tta>Cta		APOBEC1 complementation factor							149.0	151.0	150.0					10																	52573649		2203	4300	6503	SO:0001819	synonymous_variant	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52573649A>G	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.1315T>C	10.37:g.52573649A>G						A1CF_ENST00000395495.1_Silent_p.L384L|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000282641.2_Silent_p.L439L|A1CF_ENST00000373993.1_Silent_p.L439L|A1CF_ENST00000374001.1_Silent_p.L431L|A1CF_ENST00000373997.3_Silent_p.L431L|A1CF_ENST00000373995.3_Silent_p.L439L|ASAH2B_ENST00000483649.1_Intron	p.L432L	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN			12	1690	-			439					A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Silent	SNP	ENST00000373993.1	37	c.1294T>C	CCDS7242.1																																																																																				0.418	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		17	117	0	0	0	1	0	17	117				
CIC	23152	broad.mit.edu	37	19	42791818	42791818	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr19:42791818G>A	ENST00000575354.2	+	5	744	c.704G>A	c.(703-705)gGc>gAc	p.G235D	CIC_ENST00000572681.2_Missense_Mutation_p.G1144D|CIC_ENST00000160740.3_Missense_Mutation_p.G235D	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	235					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AAGATCCTGGGCGAGTGGTGG	0.612			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(3430-3432)gGc>gAc		capicua transcriptional repressor							81.0	74.0	76.0					19																	42791818		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791818G>A	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.704G>A	19.37:g.42791818G>A	ENSP00000458663:p.Gly235Asp					CIC_ENST00000160740.3_Missense_Mutation_p.G235D|CIC_ENST00000575354.2_Missense_Mutation_p.G235D	p.G1144D			Q96RK0	CIC_HUMAN			6	3499	+		Prostate(69;0.00682)	235			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3431G>A	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.380920	0.61845	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	D	0.88058	0.6335	H	0.98005	4.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92261	0.5817	8	0.87932	D	0	-16.6128	14.5138	0.67807	0.0:0.0:1.0:0.0	.	235	Q96RK0	CIC_HUMAN	D	235	.	ENSP00000160740:G235D	G	+	2	0	CIC	47483658	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.372000	0.79612	2.284000	0.76573	0.555000	0.69702	GGC		0.612	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			24	9	0	0	0	1	0	24	9				
IFIT5	24138	broad.mit.edu	37	10	91178247	91178247	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr10:91178247A>G	ENST00000371795.4	+	2	1504	c.1291A>G	c.(1291-1293)Aat>Gat	p.N431D	IFIT5_ENST00000416601.1_Missense_Mutation_p.N383D	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	431					defense response to virus (GO:0051607)|innate immune response (GO:0045087)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|ruffle membrane (GO:0032587)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)|tRNA binding (GO:0000049)			endometrium(1)|large_intestine(4)|lung(4)	9						ACTTTGTCACAATGCTTTAGA	0.423																																						ENST00000371795.4																			0				endometrium(1)|large_intestine(4)|lung(4)	9						c.(1291-1293)Aat>Gat		interferon-induced protein with tetratricopeptide repeats 5							111.0	105.0	107.0					10																	91178247		2203	4300	6503	SO:0001583	missense	24138						binding	g.chr10:91178247A>G	U34605	CCDS7403.1	10q23.31	2013-01-10			ENSG00000152778	ENSG00000152778		"""Tetratricopeptide (TTC) repeat domain containing"""	13328	protein-coding gene	gene with protein product	"""retinoic acid- and interferon-inducible protein (58kD)"""					9398535	Standard	NM_012420		Approved	RI58	uc010qnh.2	Q13325	OTTHUMG00000018713	ENST00000371795.4:c.1291A>G	10.37:g.91178247A>G	ENSP00000360860:p.Asn431Asp					IFIT5_ENST00000416601.1_Missense_Mutation_p.N383D	p.N431D	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN			2	1504	+			431					B2R5X9|B4DDV1|Q5T7I9|Q6IAX3	Missense_Mutation	SNP	ENST00000371795.4	37	c.1291A>G	CCDS7403.1	.	.	.	.	.	.	.	.	.	.	A	10.77	1.443603	0.25987	.	.	ENSG00000152778	ENST00000371795;ENST00000416601	T;T	0.53206	0.63;0.63	5.82	1.97	0.26223	Tetratricopeptide-like helical (1);	0.448990	0.26268	N	0.025354	T	0.41604	0.1166	M	0.64567	1.98	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.002	T	0.31420	-0.9944	10	0.35671	T	0.21	-8.4352	9.6222	0.39727	0.6015:0.0:0.3985:0.0	.	431;383	Q13325;B4DDV1	IFIT5_HUMAN;.	D	431;383	ENSP00000360860:N431D;ENSP00000414042:N383D	ENSP00000360860:N431D	N	+	1	0	IFIT5	91168227	0.004000	0.15560	0.003000	0.11579	0.995000	0.86356	0.303000	0.19210	0.079000	0.16929	0.533000	0.62120	AAT		0.423	IFIT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049303.1	NM_012420		21	72	0	0	0	1	0	21	72				
CXorf66	347487	broad.mit.edu	37	X	139038428	139038428	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chrX:139038428T>G	ENST00000370540.1	-	3	736	c.713A>C	c.(712-714)aAg>aCg	p.K238T		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	238						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						TTTGGGAGGCTTAGCCAATTC	0.438																																						ENST00000370540.1																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						c.(712-714)aAg>aCg		chromosome X open reading frame 66							165.0	154.0	158.0					X																	139038428		2203	4300	6503	SO:0001583	missense	347487					integral to membrane		g.chrX:139038428T>G		CCDS35411.1	Xq27.1	2014-05-30			ENSG00000203933	ENSG00000203933			33743	protein-coding gene	gene with protein product	"""secreted glycoprotein, X-linked"""					24709545	Standard	NM_001013403		Approved	RP11-35F15.2, SGPX	uc004fbb.3	Q5JRM2	OTTHUMG00000022539	ENST00000370540.1:c.713A>C	X.37:g.139038428T>G	ENSP00000359571:p.Lys238Thr						p.K238T	NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN			3	736	-			238						Missense_Mutation	SNP	ENST00000370540.1	37	c.713A>C	CCDS35411.1	.	.	.	.	.	.	.	.	.	.	T	14.13	2.444898	0.43429	.	.	ENSG00000203933	ENST00000370540	T	0.52295	0.67	4.2	-1.23	0.09465	.	0.707014	0.12259	N	0.484912	T	0.45935	0.1367	L	0.32530	0.975	0.09310	N	1	D	0.65815	0.995	D	0.66497	0.944	T	0.30736	-0.9968	9	.	.	.	-3.1983	2.4323	0.04474	0.3802:0.2306:0.0:0.3891	.	238	Q5JRM2	CX066_HUMAN	T	238	ENSP00000359571:K238T	.	K	-	2	0	CXorf66	138866094	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.052000	0.11865	-0.334000	0.08463	0.472000	0.43445	AAG		0.438	CXorf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058572.1	NM_001013403		132	156	0	0	0	1	0	132	156				
ABCC11	85320	broad.mit.edu	37	16	48221160	48221160	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr16:48221160A>G	ENST00000394747.1	-	20	3234	c.2885T>C	c.(2884-2886)aTc>aCc	p.I962T	ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000356608.2_Missense_Mutation_p.I962T|ABCC11_ENST00000537808.1_3'UTR|ABCC11_ENST00000353782.5_Missense_Mutation_p.I962T|ABCC11_ENST00000394748.1_Missense_Mutation_p.I962T	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	962	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|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)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	CATTAACAGGATATATGGAGA	0.468																																						ENST00000394747.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83						c.(2884-2886)aTc>aCc		ATP-binding cassette, sub-family C (CFTR/MRP), member 11							102.0	88.0	93.0					16																	48221160		2201	4300	6501	SO:0001583	missense	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48221160A>G	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.2885T>C	16.37:g.48221160A>G	ENSP00000378230:p.Ile962Thr					ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000353782.5_Missense_Mutation_p.I962T|ABCC11_ENST00000356608.2_Missense_Mutation_p.I962T|ABCC11_ENST00000537808.1_3'UTR|ABCC11_ENST00000394748.1_Missense_Mutation_p.I962T	p.I962T	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN			20	3234	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	962			ABC transmembrane type-1 2.		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	c.2885T>C	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	A	12.99	2.103406	0.37145	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747	D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54	5.0	2.72	0.32119	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.886748	0.09766	N	0.758675	D	0.86973	0.6062	L	0.59436	1.845	0.21355	N	0.999718	B;B	0.21225	0.053;0.051	B;B	0.32928	0.013;0.155	T	0.77321	-0.2631	10	0.62326	D	0.03	-3.4585	5.2516	0.15524	0.7256:0.18:0.0944:0.0	.	962;962	Q96J66-2;Q96J66	.;ABCCB_HUMAN	T	962	ENSP00000311326:I962T;ENSP00000349017:I962T;ENSP00000378231:I962T;ENSP00000378230:I962T	ENSP00000311326:I962T	I	-	2	0	ABCC11	46778661	0.656000	0.27385	0.008000	0.14137	0.081000	0.17604	2.798000	0.47884	0.312000	0.23038	0.460000	0.39030	ATC		0.468	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		29	24	0	0	0	1	0	29	24				
CEP85L	387119	broad.mit.edu	37	6	118953718	118953718	+	Missense_Mutation	SNP	T	T	C	rs549584138		TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr6:118953718T>C	ENST00000368491.3	-	2	751	c.130A>G	c.(130-132)Act>Gct	p.T44A	CEP85L_ENST00000368488.5_Missense_Mutation_p.T47A|CEP85L_ENST00000360290.3_5'UTR|CEP85L_ENST00000392500.3_Missense_Mutation_p.T47A|CEP85L_ENST00000419517.2_Missense_Mutation_p.T44A	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	44						centrosome (GO:0005813)|cytoplasm (GO:0005737)											GATGGAACAGTTGTGGCCTGC	0.423													T|||	1	0.000199681	0.0	0.0	5008	,	,		15843	0.001		0.0	False		,,,				2504	0.0					ENST00000368491.3																			0											c.(130-132)Act>Gct		centrosomal protein 85kDa-like							90.0	85.0	87.0					6																	118953718		1891	4128	6019	SO:0001583	missense	387119					centrosome		g.chr6:118953718T>C	AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 204"""	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.130A>G	6.37:g.118953718T>C	ENSP00000357477:p.Thr44Ala					CEP85L_ENST00000360290.3_5'UTR|CEP85L_ENST00000419517.2_Missense_Mutation_p.T44A|CEP85L_ENST00000392500.3_Missense_Mutation_p.T47A|CEP85L_ENST00000368488.5_Missense_Mutation_p.T47A	p.T44A	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN			2	751	-			44					A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Missense_Mutation	SNP	ENST00000368491.3	37	c.130A>G	CCDS43498.1	.	.	.	.	.	.	.	.	.	.	T	8.826	0.938851	0.18281	.	.	ENSG00000111860	ENST00000368491;ENST00000368488;ENST00000434604;ENST00000392500;ENST00000419517	T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92	5.25	-1.75	0.08031	.	0.304038	0.28409	N	0.015454	T	0.02848	0.0085	N	0.11560	0.145	0.26424	N	0.976053	B;B;B;B	0.06786	0.001;0.001;0.0;0.0	B;B;B;B	0.06405	0.002;0.002;0.002;0.001	T	0.43798	-0.9369	10	0.08179	T	0.78	-0.925	11.1349	0.48368	0.0:0.4982:0.0:0.5018	.	47;44;47;44	Q5SZL2-2;G3V0H3;F8W6J2;Q5SZL2	.;.;.;CF204_HUMAN	A	44;47;47;47;44	ENSP00000357477:T44A;ENSP00000357474:T47A;ENSP00000392131:T47A;ENSP00000376288:T47A;ENSP00000393317:T44A	ENSP00000357474:T47A	T	-	1	0	C6orf204	119060411	0.332000	0.24722	0.979000	0.43373	0.751000	0.42716	-0.157000	0.10085	-0.469000	0.06911	-0.911000	0.02809	ACT		0.423	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041996.2	NM_001042475		39	45	0	0	0	1	0	39	45				
SEMG2	6407	broad.mit.edu	37	20	43851147	43851147	+	Missense_Mutation	SNP	C	C	T	rs140069155	byFrequency	TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr20:43851147C>T	ENST00000372769.3	+	2	964	c.874C>T	c.(874-876)Cgt>Tgt	p.R292C		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	292	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction (GO:0019953)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)	p.R292S(1)		autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				CCCGTCTTCACGTACAGAAGA	0.393													C|||	3	0.000599042	0.0	0.0	5008	,	,		23488	0.001		0.002	False		,,,				2504	0.0					ENST00000372769.3																			1	Substitution - Missense(1)	p.R292S(1)	lung(1)	autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(874-876)Cgt>Tgt		semenogelin II		C	CYS/ARG	0,4406		0,0,2203	94.0	88.0	90.0		874	-1.7	0.0	20	dbSNP_134	90	5,8595	4.3+/-15.6	0,5,4295	yes	missense	SEMG2	NM_003008.2	180	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	possibly-damaging	292/583	43851147	5,13001	2203	4300	6503	SO:0001583	missense	6407				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43851147C>T		CCDS13346.1	20q12-q13.1	2008-07-02			ENSG00000124157	ENSG00000124157			10743	protein-coding gene	gene with protein product	"""Semenogelin 2"""	182141				1517240, 9523691	Standard	NM_003008		Approved	SGII	uc002xnk.3	Q02383	OTTHUMG00000032566	ENST00000372769.3:c.874C>T	20.37:g.43851147C>T	ENSP00000361855:p.Arg292Cys						p.R292C	NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN			2	964	+		Myeloproliferative disorder(115;0.0122)	292			4 X 60 AA tandem repeats, type I.|Repeat-rich region.		Q53ZU2|Q6X2M5|Q6X2M6	Missense_Mutation	SNP	ENST00000372769.3	37	c.874C>T	CCDS13346.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	11.34	1.610816	0.28712	0.0	5.81E-4	ENSG00000124157	ENST00000372769	T	0.06449	3.3	1.28	-1.66	0.08265	.	.	.	.	.	T	0.07098	0.0180	N	0.14661	0.345	0.09310	N	1	D;D;D	0.67145	0.992;0.996;0.996	P;P;P	0.57283	0.817;0.806;0.806	T	0.32561	-0.9902	9	0.72032	D	0.01	.	5.7337	0.18055	0.4022:0.5978:0.0:0.0	.	292;292;292	A8K6Z6;Q6IRW3;Q02383	.;.;SEMG2_HUMAN	C	292	ENSP00000361855:R292C	ENSP00000361855:R292C	R	+	1	0	SEMG2	43284561	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.512000	0.00446	-0.525000	0.06391	-0.335000	0.08231	CGT		0.393	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079417.1	NM_003008		41	67	0	0	0	1	0	41	67				
CHD8	57680	broad.mit.edu	37	14	21897261	21897261	+	Silent	SNP	T	T	C			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr14:21897261T>C	ENST00000557364.1	-	3	1340	c.1077A>G	c.(1075-1077)tcA>tcG	p.S359S	CHD8_ENST00000399982.2_Silent_p.S359S|CHD8_ENST00000555962.1_Intron|RN7SL650P_ENST00000583681.1_RNA|CHD8_ENST00000430710.3_Silent_p.S80S			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	359	Gln-rich.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GTGGCTGCGATGATGGTGGTT	0.557																																						ENST00000399982.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(1075-1077)tcA>tcG		chromodomain helicase DNA binding protein 8							142.0	160.0	154.0					14																	21897261		2139	4261	6400	SO:0001819	synonymous_variant	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21897261T>C	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.1077A>G	14.37:g.21897261T>C						CHD8_ENST00000430710.3_Silent_p.S80S|CHD8_ENST00000557364.1_Silent_p.S359S|CHD8_ENST00000555962.1_Intron	p.S359S	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	2	1141	-	all_cancers(95;0.00121)		359			Gln-rich.		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Silent	SNP	ENST00000557364.1	37	c.1077A>G	CCDS53885.1																																																																																				0.557	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		8	75	0	0	0	1	0	8	75				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			26	32	0	0	0	1	0	26	32				
ACTRT1	139741	broad.mit.edu	37	X	127185637	127185637	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chrX:127185637C>T	ENST00000371124.3	-	1	745	c.549G>A	c.(547-549)atG>atA	p.M183I		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	183						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CCCTCCCTGCCATACAGAGTT	0.542																																						ENST00000371124.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						c.(547-549)atG>atA		actin-related protein T1							85.0	77.0	80.0					X																	127185637		2203	4300	6503	SO:0001583	missense	139741					cytoplasm|cytoskeleton		g.chrX:127185637C>T	AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.549G>A	X.37:g.127185637C>T	ENSP00000360165:p.Met183Ile						p.M183I	NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN			1	745	-			183					Q6X7C1|Q96L10	Missense_Mutation	SNP	ENST00000371124.3	37	c.549G>A	CCDS14611.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.862997	0.32884	.	.	ENSG00000123165	ENST00000371124	D	0.92752	-3.1	3.24	2.36	0.29203	.	0.721920	0.12047	N	0.504456	T	0.73869	0.3642	N	0.00408	-1.53	0.29401	N	0.861925	B	0.02656	0.0	B	0.06405	0.002	T	0.69903	-0.5019	10	0.87932	D	0	.	8.2118	0.31488	0.0:0.8708:0.0:0.1292	.	183	Q8TDG2	ACTT1_HUMAN	I	183	ENSP00000360165:M183I	ENSP00000360165:M183I	M	-	3	0	ACTRT1	127013318	0.993000	0.37304	0.919000	0.36401	0.727000	0.41649	0.371000	0.20450	0.727000	0.32360	0.544000	0.68410	ATG		0.542	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289		40	68	0	0	0	1	0	40	68				
OPN1LW	5956	broad.mit.edu	37	X	153418564	153418564	+	Silent	SNP	C	C	T			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chrX:153418564C>T	ENST00000369951.4	+	3	621	c.561C>T	c.(559-561)ccC>ccT	p.P187P	OPN1LW_ENST00000463296.1_3'UTR	NM_020061.4	NP_064445.2	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	187					phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAGCCCCGCCCATCTTTGGTT	0.567																																						ENST00000369951.4																			0				endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15						c.(559-561)ccC>ccT		opsin 1 (cone pigments), long-wave-sensitive							158.0	100.0	121.0					X																	153418564		2168	3953	6121	SO:0001819	synonymous_variant	5956				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chrX:153418564C>T	Z68193	CCDS14742.1	Xq28	2013-01-08	2008-04-16		ENSG00000102076	ENSG00000102076		"""GPCR / Class A : Opsin receptors"""	9936	protein-coding gene	gene with protein product	"""cone dystrophy 5 (X-linked)"""	300822	"""color blindness, protan"", ""red cone photoreceptor pigment"""	CBBM, RCP, CBP			Standard	NM_020061		Approved	COD5	uc004fjz.4	P04000	OTTHUMG00000034295	ENST00000369951.4:c.561C>T	X.37:g.153418564C>T						OPN1LW_ENST00000463296.1_3'UTR	p.P187P	NM_020061.4	NP_064445.1	P04000	OPSR_HUMAN			3	621	+	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		187						Silent	SNP	ENST00000369951.4	37	c.561C>T	CCDS14742.1																																																																																				0.567	OPN1LW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082839.2	NM_020061		9	35	0	0	0	1	0	9	35				
C11orf16	56673	broad.mit.edu	37	11	8947615	8947615	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr11:8947615C>T	ENST00000326053.5	-	5	705	c.599G>A	c.(598-600)gGc>gAc	p.G200D	C11orf16_ENST00000528998.1_5'Flank|C11orf16_ENST00000525780.1_Missense_Mutation_p.G200D	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	200										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		AGCAGCTTTGCCATTCCAGAA	0.428																																						ENST00000326053.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22						c.(598-600)gGc>gAc		chromosome 11 open reading frame 16							75.0	83.0	80.0					11																	8947615		2201	4296	6497	SO:0001583	missense	56673							g.chr11:8947615C>T	AJ400877	CCDS7794.1	11p15.3	2008-06-25			ENSG00000176029	ENSG00000176029			1169	protein-coding gene	gene with protein product						11528127	Standard	NM_020643		Approved		uc001mhb.4	Q9NQ32	OTTHUMG00000165654	ENST00000326053.5:c.599G>A	11.37:g.8947615C>T	ENSP00000318999:p.Gly200Asp					C11orf16_ENST00000525780.1_Missense_Mutation_p.G200D	p.G200D	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN		Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)	5	705	-			200					Q53FB2|Q8N6Y9	Missense_Mutation	SNP	ENST00000326053.5	37	c.599G>A	CCDS7794.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.564975	0.65651	.	.	ENSG00000176029	ENST00000525780;ENST00000326053	T;T	0.28255	1.62;1.62	6.17	6.17	0.99709	.	0.084631	0.51477	D	0.000084	T	0.48314	0.1493	L	0.56769	1.78	0.40732	D	0.982759	D;D	0.71674	0.998;0.998	D;D	0.65323	0.934;0.934	T	0.35375	-0.9791	10	0.42905	T	0.14	-0.5787	12.6365	0.56687	0.0:0.9193:0.0:0.0807	.	200;200	Q9NQ32-2;Q9NQ32	.;CK016_HUMAN	D	200	ENSP00000436818:G200D;ENSP00000318999:G200D	ENSP00000318999:G200D	G	-	2	0	C11orf16	8904191	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	2.750000	0.47500	2.941000	0.99782	0.655000	0.94253	GGC		0.428	C11orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385626.1	NM_020643		4	111	0	0	0	1	0	4	111				
SUGCT	79783	broad.mit.edu	37	7	40535964	40535964	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr7:40535964G>C	ENST00000335693.4	+	12	1112	c.1089G>C	c.(1087-1089)aaG>aaC	p.K363N	C7orf10_ENST00000309930.5_Missense_Mutation_p.K363N|C7orf10_ENST00000401647.2_Missense_Mutation_p.K315N	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		363					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						ACAACATGAAGAATGTATTTG	0.403																																						ENST00000309930.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						c.(1087-1089)aaG>aaC		chromosome 7 open reading frame 10							108.0	102.0	104.0					7																	40535964		1864	4102	5966	SO:0001583	missense	79783						transferase activity	g.chr7:40535964G>C																												ENST00000335693.4:c.1089G>C	7.37:g.40535964G>C	ENSP00000338475:p.Lys363Asn					C7orf10_ENST00000335693.4_Missense_Mutation_p.K363N|C7orf10_ENST00000401647.2_Missense_Mutation_p.K315N	p.K363N	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN			12	1113	+			363					A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Missense_Mutation	SNP	ENST00000335693.4	37	c.1089G>C	CCDS55105.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.41|18.41	3.618885|3.618885	0.66787|0.66787	.|.	.|.	ENSG00000175600|ENSG00000175600	ENST00000309930;ENST00000401647;ENST00000335693|ENST00000416370	T;T;T|.	0.76968|.	-1.06;-1.06;-1.06|.	5.42|5.42	4.53|4.53	0.55603|0.55603	CoA-transferase family III domain (1);|.	0.400315|.	0.28977|.	N|.	0.013531|.	T|T	0.64148|0.64148	0.2572|0.2572	M|M	0.62088|0.62088	1.915|1.915	0.80722|0.80722	D|D	1|1	B;P;P|.	0.39940|.	0.415;0.57;0.696|.	B;B;B|.	0.43838|.	0.317;0.196;0.433|.	T|T	0.62459|0.62459	-0.6850|-0.6850	10|5	0.20046|.	T|.	0.44|.	-17.2221|-17.2221	10.8164|10.8164	0.46578|0.46578	0.146:0.0:0.854:0.0|0.146:0.0:0.854:0.0	.|.	315;363;326|.	Q4KMW8;Q9HAC7;Q9HAC7-2|.	.;CG010_HUMAN;.|.	N|T	363;315;363|358	ENSP00000312054:K363N;ENSP00000385222:K315N;ENSP00000338475:K363N|.	ENSP00000312054:K363N|.	K|R	+|+	3|2	2|0	C7orf10|C7orf10	40502489|40502489	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.155000|2.155000	0.42301|0.42301	2.533000|2.533000	0.85409|0.85409	0.650000|0.650000	0.86243|0.86243	AAG|AGA		0.403	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1			8	7	0	0	0	1	0	8	7				
ACSBG1	23205	broad.mit.edu	37	15	78474344	78474344	+	Silent	SNP	G	G	A			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr15:78474344G>A	ENST00000258873.4	-	8	1243	c.1038C>T	c.(1036-1038)gcC>gcT	p.A346A	ACSBG1_ENST00000560817.1_Silent_p.A104A|ACSBG1_ENST00000541759.1_Silent_p.A104A	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	346					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						AGCAAACCTGGGCCCCCCACT	0.627																																						ENST00000258873.4																			0				endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						c.(1036-1038)gcC>gcT		acyl-CoA synthetase bubblegum family member 1							90.0	71.0	78.0					15																	78474344		2196	4293	6489	SO:0001819	synonymous_variant	23205				long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity	g.chr15:78474344G>A	AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"""Acyl-CoA synthetase family"""	29567	protein-coding gene	gene with protein product	"""bubblegum"", ""very long-chain acyl-CoA synthetase"", ""lipidosin"""	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.1038C>T	15.37:g.78474344G>A						ACSBG1_ENST00000541759.1_Silent_p.A104A|ACSBG1_ENST00000560817.1_Silent_p.A104A	p.A346A	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN			8	1243	-			346					B2RB61|O75126|Q76N27|Q9HC26	Silent	SNP	ENST00000258873.4	37	c.1038C>T	CCDS10298.1																																																																																				0.627	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162		19	26	0	0	0	1	0	19	26				
CYLC1	1538	broad.mit.edu	37	X	83128413	83128413	+	Missense_Mutation	SNP	C	C	T	rs201422295		TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chrX:83128413C>T	ENST00000329312.4	+	4	734	c.697C>T	c.(697-699)Ccc>Tcc	p.P233S		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	233					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TAGTAATGATCCCATATCAGA	0.328													C|||	3	0.000794702	0.0	0.0	3775	,	,		13139	0.003		0.0	False		,,,				2504	0.0					ENST00000329312.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(697-699)Ccc>Tcc		cylicin, basic protein of sperm head cytoskeleton 1							33.0	30.0	31.0					X																	83128413		2192	4288	6480	SO:0001583	missense	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83128413C>T	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.697C>T	X.37:g.83128413C>T	ENSP00000331556:p.Pro233Ser						p.P233S	NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN			4	734	+			233					A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	c.697C>T	CCDS35341.1	2	0.0012055455093429777	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	c	0.986	-0.695545	0.03279	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.40756	1.02	4.13	1.32	0.21799	.	.	.	.	.	T	0.11623	0.0283	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.24799	-1.0150	9	0.09843	T	0.71	19.8836	2.0884	0.03651	0.1152:0.1951:0.487:0.2028	.	233;233	P35663;F5H4V5	CYLC1_HUMAN;.	S	233	ENSP00000331556:P233S	ENSP00000331556:P233S	P	+	1	0	CYLC1	83015069	0.000000	0.05858	0.004000	0.12327	0.001000	0.01503	-0.704000	0.05058	0.136000	0.18733	-0.288000	0.09946	CCC		0.328	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		18	23	0	0	0	1	0	18	23				
GK2	2712	broad.mit.edu	37	4	80327935	80327935	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr4:80327935G>T	ENST00000358842.3	-	1	1437	c.1420C>A	c.(1420-1422)Ctt>Att	p.L474I		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	0					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						TGGGGTTCAAGGCTCCAAACG	0.478																																						ENST00000358842.3																			0				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						c.(1420-1422)Ctt>Att		glycerol kinase 2							114.0	111.0	112.0					4																	80327935		2203	4300	6503	SO:0001583	missense	2712				glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chr4:80327935G>T	BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"""Glycerol kinases"""	4291	protein-coding gene	gene with protein product		600148	"""glycerol kinase pseudogene 2"""	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.1420C>A	4.37:g.80327935G>T	ENSP00000351706:p.Leu474Ile						p.L474I	NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN			1	1437	-			474					Q7Z4Q4	Missense_Mutation	SNP	ENST00000358842.3	37	c.1420C>A	CCDS3585.1	.	.	.	.	.	.	.	.	.	.	G	1.229	-0.624623	0.03636	.	.	ENSG00000196475	ENST00000358842	D	0.90385	-2.66	4.11	2.36	0.29203	.	0.076204	0.53938	N	0.000049	D	0.83667	0.5304	L	0.39147	1.195	0.48511	D	0.999664	B	0.24675	0.109	B	0.30401	0.115	T	0.74699	-0.3577	10	0.37606	T	0.19	-17.1039	3.666	0.08255	0.204:0.0:0.5999:0.1962	.	474	Q14410	GLPK2_HUMAN	I	474	ENSP00000351706:L474I	ENSP00000351706:L474I	L	-	1	0	GK2	80546959	1.000000	0.71417	0.315000	0.25238	0.020000	0.10135	3.981000	0.56902	0.673000	0.31224	0.585000	0.79938	CTT		0.478	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	NM_033214		3	55	1	0	0.004672	1	0.00480361	3	55				
TUBB8P7	197331	broad.mit.edu	37	16	90161902	90161902	+	RNA	SNP	A	A	G	rs6500471	byFrequency	TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr16:90161902A>G	ENST00000564451.1	+	0	1255				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.K213R(8)									ATATGTTCCAAGACCCTAAAA	0.537													.|||	3135	0.625998	0.9327	0.5014	5008	,	,		11498	0.7867		0.4702	False		,,,				2504	0.2945					ENST00000564451.1																			8	Substitution - Missense(8)	p.K213R(8)	kidney(4)|prostate(3)|urinary_tract(1)																																																0							g.chr16:90161902A>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161902A>G						TUBB8P7_ENST00000567960.1_RNA								0	1255	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		3	40	0	0	0	1	0	3	40				
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	755						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423																																						ENST00000342960.5																			5	Substitution - Missense(5)	p.E3455K(5)	skin(2)|urinary_tract(1)|kidney(1)|central_nervous_system(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10363-10365)Gaa>Aaa		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145367767G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10363G>A	1.37:g.145367767G>A	ENSP00000345684:p.Glu3455Lys					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.E3455K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10398	+	all_hematologic(923;0.032)		3455					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.10363G>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.929795	0.00488	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.02552	4.25	.	.	.	.	.	.	.	.	T	0.00784	0.0026	L	0.51422	1.61	0.09310	N	1	.	.	.	.	.	.	T	0.46162	-0.9211	4	0.02654	T	1	.	.	.	.	.	.	.	.	K	575;3455	ENSP00000345684:E3455K	ENSP00000345684:E3455K	E	+	1	0	NBPF10	144079124	0.039000	0.19947	.	.	.	.	0.000000	0.12993	.	.	.	.	GAA		0.423	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		6	35	0	0	0	1	0	6	35				
ZNF99	7652	broad.mit.edu	37	19	22941745	22941745	+	Silent	SNP	A	A	G			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr19:22941745A>G	ENST00000596209.1	-	4	1056	c.966T>C	c.(964-966)ttT>ttC	p.F322F	ZNF99_ENST00000397104.3_Silent_p.F231F	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	322					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AGAAATGGTTAAAAGCTTTGC	0.393																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(691-693)ttT>ttC		zinc finger protein 99							49.0	51.0	50.0					19																	22941745		2091	4241	6332	SO:0001819	synonymous_variant	7652							g.chr19:22941745A>G	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.966T>C	19.37:g.22941745A>G						ZNF99_ENST00000596209.1_Silent_p.F322F	p.F231F							5	692	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Silent	SNP	ENST00000596209.1	37	c.693T>C	CCDS59369.1																																																																																				0.393	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		39	54	0	0	0	1	0	39	54				
NUFIP2	57532	broad.mit.edu	37	17	27614074	27614074	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr17:27614074T>C	ENST00000225388.4	-	2	996	c.938A>G	c.(937-939)aAa>aGa	p.K313R	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	313						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			ATCAAACTTTTTGCTGCTCAC	0.488																																						ENST00000225388.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24						c.(937-939)aAa>aGa		nuclear fragile X mental retardation protein interacting protein 2							101.0	107.0	105.0					17																	27614074		2203	4300	6503	SO:0001583	missense	57532					nucleus|polysomal ribosome	protein binding|RNA binding	g.chr17:27614074T>C	AB037742	CCDS32600.1	17q11.1	2006-03-01				ENSG00000108256			17634	protein-coding gene	gene with protein product		609356				12837692, 16407062	Standard	NM_020772		Approved	KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP	uc002hdy.4	Q7Z417		ENST00000225388.4:c.938A>G	17.37:g.27614074T>C	ENSP00000225388:p.Lys313Arg					NUFIP2_ENST00000579665.1_Intron	p.K313R	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)		2	996	-			313					A1L3A6|Q9P2M5	Missense_Mutation	SNP	ENST00000225388.4	37	c.938A>G	CCDS32600.1	.	.	.	.	.	.	.	.	.	.	T	14.07	2.426166	0.43020	.	.	ENSG00000108256	ENST00000225388	.	.	.	6.17	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.52273	0.1724	L	0.32530	0.975	0.80722	D	1	P	0.36633	0.562	B	0.41036	0.346	T	0.54860	-0.8230	9	0.66056	D	0.02	0.4636	13.7445	0.62868	0.0:0.0:0.1283:0.8716	.	313	Q7Z417	NUFP2_HUMAN	R	313	.	ENSP00000225388:K313R	K	-	2	0	NUFIP2	24638200	1.000000	0.71417	1.000000	0.80357	0.504000	0.33889	7.397000	0.79903	1.137000	0.42214	0.533000	0.62120	AAA		0.488	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447015.2	NM_020772		10	113	0	0	0	1	0	10	113				
NARFL	64428	broad.mit.edu	37	16	787302	787302	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr16:787302C>T	ENST00000251588.2	-	3	206	c.190G>A	c.(190-192)Gcc>Acc	p.A64T	NARFL_ENST00000301694.5_Missense_Mutation_p.A64T|NARFL_ENST00000568545.1_5'UTR|NARFL_ENST00000540986.1_5'UTR	NM_022493.1	NP_071938.1	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	64					hematopoietic progenitor cell differentiation (GO:0002244)|iron-sulfur cluster assembly (GO:0016226)|oxygen homeostasis (GO:0032364)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	CIA complex (GO:0097361)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				GAGACCTTGGCCTTCTCCAGC	0.627																																						ENST00000251588.2																			0				autonomic_ganglia(1)|large_intestine(1)|lung(7)	9						c.(190-192)Gcc>Acc		nuclear prelamin A recognition factor-like							94.0	88.0	90.0					16																	787302		2200	4299	6499	SO:0001583	missense	64428				iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding	g.chr16:787302C>T	AY129231	CCDS10425.1	16p13.3	2009-12-17			ENSG00000103245	ENSG00000103245			14179	protein-coding gene	gene with protein product	"""iron-only hydrogenase-like protein 1"""	611118				16956324	Standard	NM_022493		Approved	FLJ21988, PRN, HPRN, IOP1	uc002cjr.3	Q9H6Q4	OTTHUMG00000122093	ENST00000251588.2:c.190G>A	16.37:g.787302C>T	ENSP00000251588:p.Ala64Thr					NARFL_ENST00000540986.1_5'UTR|NARFL_ENST00000568545.1_5'UTR|NARFL_ENST00000301694.5_Missense_Mutation_p.A64T	p.A64T	NM_022493.1	NP_071938.1	Q9H6Q4	NARFL_HUMAN			3	206	-		Hepatocellular(780;0.0218)	64					A1L385|B3KTJ3|Q53GC6|Q96S10|Q9H6J8	Missense_Mutation	SNP	ENST00000251588.2	37	c.190G>A	CCDS10425.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.900557	0.92035	.	.	ENSG00000103245	ENST00000251588;ENST00000301694	T;T	0.32023	1.47;1.47	4.15	4.15	0.48705	.	0.000000	0.85682	D	0.000000	T	0.60104	0.2243	M	0.89353	3.025	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.76071	0.987;0.987;0.973	T	0.65117	-0.6246	10	0.33940	T	0.23	-34.7693	15.6011	0.76626	0.0:1.0:0.0:0.0	.	64;64;64	B4DT78;B4DEE7;Q9H6Q4	.;.;NARFL_HUMAN	T	64	ENSP00000251588:A64T;ENSP00000301694:A64T	ENSP00000251588:A64T	A	-	1	0	NARFL	727303	1.000000	0.71417	0.923000	0.36655	0.749000	0.42624	7.244000	0.78228	2.179000	0.69175	0.511000	0.50034	GCC		0.627	NARFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242855.1	NM_022493		31	50	0	0	0	1	0	31	50				
KMO	8564	broad.mit.edu	37	1	241731922	241731922	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr1:241731922C>T	ENST00000366559.4	+	10	1243	c.932C>T	c.(931-933)cCg>cTg	p.P311L	KMO_ENST00000366557.4_Missense_Mutation_p.P311L|KMO_ENST00000366558.3_Missense_Mutation_p.P311L	NM_003679.4	NP_003670.2			kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)											NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			GCTATAGTGCCGTTTTTTGGG	0.433																																						ENST00000366559.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33						c.(931-933)cCg>cTg		kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)							180.0	156.0	164.0					1																	241731922		2203	4300	6503	SO:0001583	missense	8564				pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity	g.chr1:241731922C>T	AF056032	CCDS1618.1	1q42-q44	2010-11-23			ENSG00000117009	ENSG00000117009	1.14.13.9		6381	protein-coding gene	gene with protein product		603538				9237672	Standard	NM_003679		Approved		uc009xgp.3	O15229	OTTHUMG00000039635	ENST00000366559.4:c.932C>T	1.37:g.241731922C>T	ENSP00000355517:p.Pro311Leu					KMO_ENST00000366558.3_Missense_Mutation_p.P311L|KMO_ENST00000366557.4_Missense_Mutation_p.P311L	p.P311L	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0176)		10	1243	+	Ovarian(103;0.103)|all_lung(81;0.23)		311						Missense_Mutation	SNP	ENST00000366559.4	37	c.932C>T	CCDS1618.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.961674	0.92791	.	.	ENSG00000117009	ENST00000366559;ENST00000366558;ENST00000366557	T;T;T	0.74632	-0.86;-0.86;-0.86	5.8	5.8	0.92144	Monooxygenase, FAD-binding (1);Aromatic-ring hydroxylase-like (2);	0.000000	0.85682	D	0.000000	D	0.91476	0.7309	H	0.97465	4.01	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93967	0.7246	10	0.87932	D	0	.	17.5448	0.87858	0.0:1.0:0.0:0.0	.	311;311;311	O15229;A8K693;O15229-2	KMO_HUMAN;.;.	L	311	ENSP00000355517:P311L;ENSP00000355516:P311L;ENSP00000355515:P311L	ENSP00000355515:P311L	P	+	2	0	KMO	239798545	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.666000	0.83877	2.740000	0.93945	0.650000	0.86243	CCG		0.433	KMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095612.1	NM_003679		28	31	0	0	0	1	0	28	31				
ATG2B	55102	broad.mit.edu	37	14	96795934	96795934	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr14:96795934T>A	ENST00000359933.4	-	12	2661	c.1768A>T	c.(1768-1770)Aga>Tga	p.R590*		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	590					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GATCTTTGTCTTTGTTCATAG	0.323																																						ENST00000359933.4																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(1768-1770)Aga>Tga		autophagy related 2B							118.0	116.0	116.0					14																	96795934		1816	4064	5880	SO:0001587	stop_gained	55102							g.chr14:96795934T>A	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.1768A>T	14.37:g.96795934T>A	ENSP00000353010:p.Arg590*						p.R590*	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	12	2661	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	590					Q6ZRE7|Q96DQ3|Q9NW80	Nonsense_Mutation	SNP	ENST00000359933.4	37	c.1768A>T	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	T	47	13.793401	0.99763	.	.	ENSG00000066739	ENST00000359933	.	.	.	5.68	5.68	0.88126	.	0.087229	0.50627	U	0.000117	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.1221	0.53897	0.0:0.0:0.143:0.857	.	.	.	.	X	590	.	ENSP00000353010:R590X	R	-	1	2	ATG2B	95865687	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.666000	0.54540	2.289000	0.77006	0.482000	0.46254	AGA		0.323	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		3	66	0	0	0	1	0	3	66				
PKDREJ	10343	broad.mit.edu	37	22	46657680	46657680	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr22:46657680C>T	ENST00000253255.5	-	1	1539	c.1540G>A	c.(1540-1542)Gga>Aga	p.G514R		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	514	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CCATTCCTTCCTGTTACAGTT	0.388																																						ENST00000253255.5																			0				NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(1540-1542)Gga>Aga		polycystin (PKD) family receptor for egg jelly							148.0	167.0	160.0					22																	46657680		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46657680C>T	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.1540G>A	22.37:g.46657680C>T	ENSP00000253255:p.Gly514Arg						p.G514R	NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	1539	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	514			REJ.		B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.1540G>A	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.072477	0.76415	.	.	ENSG00000130943	ENST00000253255	T	0.72942	-0.7	5.18	4.15	0.48705	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	0.097039	0.45361	N	0.000369	T	0.73458	0.3589	L	0.45228	1.405	0.34402	D	0.695367	D	0.53462	0.96	P	0.56865	0.808	T	0.80469	-0.1369	10	0.46703	T	0.11	-27.1083	12.2366	0.54518	0.0:0.9164:0.0:0.0836	.	514	Q9NTG1	PKDRE_HUMAN	R	514	ENSP00000253255:G514R	ENSP00000253255:G514R	G	-	1	0	PKDREJ	45036344	0.997000	0.39634	0.198000	0.23420	0.630000	0.37929	3.826000	0.55738	1.285000	0.44548	0.655000	0.94253	GGA		0.388	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		26	289	0	0	0	1	0	26	289				
GPER1	2852	broad.mit.edu	37	7	1131728	1131728	+	Silent	SNP	C	C	A			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr7:1131728C>A	ENST00000297469.3	+	2	1055	c.364C>A	c.(364-366)Cgg>Agg	p.R122R	C7orf50_ENST00000488073.1_Intron|C7orf50_ENST00000357429.6_Intron|C7orf50_ENST00000397100.2_Intron|C7orf50_ENST00000397098.3_Intron|GPER1_ENST00000397088.3_Silent_p.R122R|GPER1_ENST00000397092.1_Silent_p.R122R|GPER1_ENST00000401670.1_Silent_p.R122R	NM_001505.2	NP_001496.1	Q99527	GPER1_HUMAN	G protein-coupled estrogen receptor 1	122					apoptotic chromosome condensation (GO:0030263)|cell cycle (GO:0007049)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucose stimulus (GO:0071333)|cellular response to mineralocorticoid stimulus (GO:0071389)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytosolic calcium ion homeostasis (GO:0051480)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA metabolic process (GO:0051053)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte activation (GO:0002695)|negative regulation of lipid biosynthetic process (GO:0051055)|neuronal action potential (GO:0019228)|nuclear fragmentation involved in apoptotic nuclear change (GO:0030264)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of gene expression (GO:0010628)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of insulin secretion (GO:0032024)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vasodilation (GO:0045909)|steroid hormone mediated signaling pathway (GO:0043401)	axon (GO:0030424)|axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|dendritic spine head (GO:0044327)|dendritic spine membrane (GO:0032591)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|keratin filament (GO:0045095)|mitochondrial membrane (GO:0031966)|neuronal postsynaptic density (GO:0097481)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	chromatin binding (GO:0003682)|estrogen receptor activity (GO:0030284)|G-protein coupled receptor activity (GO:0004930)|mineralocorticoid receptor activity (GO:0017082)|steroid binding (GO:0005496)										CCTGCACGAGCGGTACTACGA	0.577																																						ENST00000397092.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	13						c.(364-366)Cgg>Agg									166.0	122.0	137.0					7																	1131728		2203	4300	6503	SO:0001819	synonymous_variant	0					endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:1131728C>A	U63917	CCDS5322.1	7p22	2013-08-14	2007-07-03	2013-08-14	ENSG00000164850	ENSG00000164850			4485	protein-coding gene	gene with protein product		601805	"""G protein-coupled receptor 30"""	CMKRL2, GPR30, GPER		9479505, 17655271	Standard	NM_001098201		Approved	FEG-1, GPCR-Br, LERGU, LERGU2, DRY12, LyGPR, CEPR	uc003skb.2	Q99527	OTTHUMG00000023680	ENST00000297469.3:c.364C>A	7.37:g.1131728C>A						GPER_ENST00000397088.3_Silent_p.R122R|GPER_ENST00000297469.3_Silent_p.R122R|C7orf50_ENST00000357429.6_Intron|C7orf50_ENST00000397100.2_Intron|GPER_ENST00000401670.1_Silent_p.R122R|C7orf50_ENST00000488073.1_Intron|C7orf50_ENST00000397098.3_Intron	p.R122R	NM_001039966.1	NP_001035055.1	Q99527	GPER_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)	3	1248	+		Ovarian(82;0.0253)	122					A8K6C5|B5BUJ1|O00143|O43494|Q13631|Q6FHL1|Q96F42|Q99981	Silent	SNP	ENST00000297469.3	37	c.364C>A	CCDS5322.1																																																																																				0.577	GPER1-030	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060001.1	NM_001039966		3	69	1	0	0.115264	1	0.115264	3	69				
ADRA2A	150	broad.mit.edu	37	10	112839099	112839099	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr10:112839099C>T	ENST00000280155.2	+	1	2310	c.1345C>T	c.(1345-1347)Cgc>Tgc	p.R449C		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	434					actin cytoskeleton organization (GO:0030036)|activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|acute inflammatory response (GO:0002526)|adenylate cyclase-inhibiting adrenergic receptor signaling pathway (GO:0071881)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|DNA replication (GO:0006260)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|fear response (GO:0042596)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intestinal absorption (GO:0050892)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of adrenergic receptor signaling pathway (GO:0071878)|negative regulation of calcium ion transmembrane transporter activity (GO:1901020)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of insulin secretion (GO:0046676)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|phospholipase C-activating adrenergic receptor signaling pathway (GO:0071882)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of vasodilation (GO:0045909)|positive regulation of wound healing (GO:0090303)|Ras protein signal transduction (GO:0007265)|regulation of insulin secretion (GO:0050796)|regulation of vasoconstriction (GO:0019229)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|thermoception (GO:0050955)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	alpha-1B adrenergic receptor binding (GO:0031692)|alpha-2C adrenergic receptor binding (GO:0031696)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|heterotrimeric G-protein binding (GO:0032795)|norepinephrine binding (GO:0051380)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)			breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Dexmedetomidine(DB00633)|Dihydroergotamine(DB00320)|Dipivefrin(DB00449)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupirtine(DB06623)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Lofexidine(DB04948)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Naphazoline(DB06711)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pramipexole(DB00413)|Prazosin(DB00457)|Propericiazine(DB01608)|Pseudoephedrine(DB00852)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CCACGATTTCCGCCGCGCCTT	0.592																																					Esophageal Squamous(173;605 2658 7278 49362)	ENST00000280155.2																			0				breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1345-1347)Cgc>Tgc		adrenoceptor alpha 2A	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)						104.0	101.0	102.0					10																	112839099		2203	4300	6503	SO:0001583	missense	150				actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding	g.chr10:112839099C>T	AF284095	CCDS7569.2	10q25.2	2012-08-08	2012-05-09		ENSG00000150594	ENSG00000150594		"""GPCR / Class A : Adrenoceptors : alpha"""	281	protein-coding gene	gene with protein product	"""alpha-2AAR subtype C10"", "" alpha-2A-adrenergic receptor"""	104210	"""adrenergic, alpha-2A-, receptor"""	ADRA2, ADRA2R			Standard	NM_000681		Approved	ADRAR	uc001kzo.3	P08913	OTTHUMG00000019050	ENST00000280155.2:c.1345C>T	10.37:g.112839099C>T	ENSP00000280155:p.Arg449Cys						p.R449C	NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	1	2310	+		Breast(234;0.0735)|Lung NSC(174;0.238)	434					B0LPF6|Q2I8G2|Q2XN99|Q86TH8|Q9BZK1	Missense_Mutation	SNP	ENST00000280155.2	37	c.1345C>T	CCDS7569.2	.	.	.	.	.	.	.	.	.	.	C	17.11	3.304417	0.60305	.	.	ENSG00000150594	ENST00000280155	T	0.58358	0.34	3.88	3.88	0.44766	.	0.000000	0.64402	U	0.000001	T	0.81336	0.4801	H	0.98701	4.305	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	D	0.85789	0.1366	10	0.87932	D	0	.	9.3662	0.38226	0.3761:0.6239:0.0:0.0	.	434	P08913	ADA2A_HUMAN	C	449	ENSP00000280155:R449C	ENSP00000280155:R449C	R	+	1	0	ADRA2A	112829089	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.862000	0.39448	1.971000	0.57363	0.462000	0.41574	CGC		0.592	ADRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050372.2	NM_000681		19	88	0	0	0	1	0	19	88				
RTN4RL1	146760	broad.mit.edu	37	17	1840215	1840215	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr17:1840215A>G	ENST00000331238.6	-	2	1380	c.901T>C	c.(901-903)Ttc>Ctc	p.F301L		NM_178568.2	NP_848663.1			reticulon 4 receptor-like 1											breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						CAGTTCCGGAAGTCCTCGGCC	0.682																																					GBM(68;949 1139 14865 32798 38342)	ENST00000331238.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						c.(901-903)Ttc>Ctc		reticulon 4 receptor-like 1							15.0	18.0	17.0					17																	1840215		2157	4252	6409	SO:0001583	missense	146760				axon regeneration	anchored to plasma membrane	receptor activity	g.chr17:1840215A>G	AF532859	CCDS45569.1	17p13.3	2008-02-05				ENSG00000185924			21329	protein-coding gene	gene with protein product	"""nogo-66 receptor homolog 2"""	610461					Standard	NM_178568		Approved	NGRH2, NgR3, DKFZp547J144	uc002ftp.3	Q86UN2		ENST00000331238.6:c.901T>C	17.37:g.1840215A>G	ENSP00000330631:p.Phe301Leu						p.F301L	NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN			2	919	-			301			LRRCT.			Missense_Mutation	SNP	ENST00000331238.6	37	c.901T>C	CCDS45569.1	.	.	.	.	.	.	.	.	.	.	A	10.32	1.317789	0.23994	.	.	ENSG00000185924	ENST00000331238	T	0.61274	0.12	4.94	4.94	0.65067	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.41294	D	0.000909	T	0.40473	0.1118	N	0.16233	0.39	0.58432	D	0.999998	B	0.22146	0.065	B	0.22386	0.039	T	0.25745	-1.0123	10	0.13853	T	0.58	.	14.8129	0.70008	1.0:0.0:0.0:0.0	.	301	Q86UN2	R4RL1_HUMAN	L	301	ENSP00000330631:F301L	ENSP00000330631:F301L	F	-	1	0	RTN4RL1	1786965	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.317000	0.79018	2.088000	0.63022	0.524000	0.50904	TTC		0.682	RTN4RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450155.2	NM_178568		5	11	0	0	0	1	0	5	11				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C	rs368571207		TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682																																						ENST00000432432.2																			1	Substitution - Missense(1)	p.E49G(1)	kidney(1)																																																0							g.chr2:95522772T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522772T>C								NR_040113.1						0	255	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.682	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			4	49	0	0	0	1	0	4	49				
NRSN2	80023	broad.mit.edu	37	20	333951	333951	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr20:333951G>A	ENST00000382291.3	+	4	527	c.287G>A	c.(286-288)gGt>gAt	p.G96D	NRSN2_ENST00000382285.2_Missense_Mutation_p.G96D|NRSN2_ENST00000608736.1_Intron|NRSN2_ENST00000492242.1_3'UTR	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	96						integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				ATCGGTGAGGGTGAGTTCCTG	0.647																																						ENST00000382291.3																			0				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8						c.(286-288)gGt>gAt		neurensin 2							88.0	82.0	84.0					20																	333951		2203	4300	6503	SO:0001583	missense	80023					integral to membrane|plasma membrane|transport vesicle		g.chr20:333951G>A	AL136915	CCDS12996.1	20p13	2008-02-04	2006-07-04	2006-07-04	ENSG00000125841	ENSG00000125841			16229	protein-coding gene	gene with protein product		610666	"""chromosome 20 open reading frame 98"""	C20orf98		16527258	Standard	NM_024958		Approved	dJ1103G7.6	uc002wdi.4	Q9GZP1	OTTHUMG00000031628	ENST00000382291.3:c.287G>A	20.37:g.333951G>A	ENSP00000371728:p.Gly96Asp					NRSN2_ENST00000382285.2_Missense_Mutation_p.G96D|NRSN2_ENST00000492242.1_3'UTR	p.G96D	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN			4	527	+		all_cancers(10;0.0834)	96					A8K3B2|Q6FII5|Q9NUD3	Missense_Mutation	SNP	ENST00000382291.3	37	c.287G>A	CCDS12996.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.469195	0.26423	.	.	ENSG00000125841	ENST00000382291;ENST00000382285	T;T	0.20738	2.05;2.05	4.76	3.82	0.43975	.	0.190962	0.45606	D	0.000342	T	0.20941	0.0504	L	0.43152	1.355	0.09310	N	1	P	0.49635	0.926	P	0.48654	0.585	T	0.06807	-1.0806	10	0.19590	T	0.45	-9.8363	8.577	0.33605	0.1038:0.0:0.8962:0.0	.	96	Q9GZP1	NRSN2_HUMAN	D	96	ENSP00000371728:G96D;ENSP00000371722:G96D	ENSP00000371722:G96D	G	+	2	0	NRSN2	281951	0.070000	0.21116	0.003000	0.11579	0.980000	0.70556	0.913000	0.28611	1.242000	0.43836	0.643000	0.83706	GGT		0.647	NRSN2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077446.1	NM_024958		4	69	0	0	0	1	0	4	69				
TBR1	10716	broad.mit.edu	37	2	162273034	162273034	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr2:162273034C>G	ENST00000389554.3	+	1	430	c.113C>G	c.(112-114)cCc>cGc	p.P38R	TBR1_ENST00000410035.1_5'Flank	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	38					axon guidance (GO:0007411)|brain development (GO:0007420)|hindbrain development (GO:0030902)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of neuron projection development (GO:0010975)|specification of organ identity (GO:0010092)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						CACGATCATCCCATTATCTCG	0.463																																						ENST00000389554.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						c.(112-114)cCc>cGc		T-box, brain, 1							66.0	69.0	68.0					2																	162273034		2203	4300	6503	SO:0001583	missense	10716					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:162273034C>G	U49250	CCDS33310.1	2q24.2	2011-06-13			ENSG00000136535	ENSG00000136535		"""T-boxes"""	11590	protein-coding gene	gene with protein product		604616				7619531	Standard	NM_006593		Approved		uc002ubw.1	Q16650	OTTHUMG00000153888	ENST00000389554.3:c.113C>G	2.37:g.162273034C>G	ENSP00000374205:p.Pro38Arg						p.P38R	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN			1	430	+			38					B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Missense_Mutation	SNP	ENST00000389554.3	37	c.113C>G	CCDS33310.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.753882	0.31046	.	.	ENSG00000136535	ENST00000389554	D	0.86769	-2.17	5.15	5.15	0.70609	.	0.130840	0.52532	D	0.000063	D	0.83746	0.5321	L	0.44542	1.39	0.80722	D	1	B	0.24618	0.107	B	0.19946	0.027	T	0.80765	-0.1236	10	0.51188	T	0.08	.	17.7843	0.88533	0.0:1.0:0.0:0.0	.	38	Q16650	TBR1_HUMAN	R	38	ENSP00000374205:P38R	ENSP00000374205:P38R	P	+	2	0	TBR1	161981280	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.637000	0.67854	2.688000	0.91661	0.655000	0.94253	CCC		0.463	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332845.1	NM_006593		26	40	0	0	0	1	0	26	40				
STK36	27148	broad.mit.edu	37	2	219557982	219557982	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr2:219557982A>G	ENST00000295709.3	+	17	2342	c.2063A>G	c.(2062-2064)aAt>aGt	p.N688S	STK36_ENST00000440309.1_Missense_Mutation_p.N688S|STK36_ENST00000392105.3_Missense_Mutation_p.N688S|STK36_ENST00000392106.2_Missense_Mutation_p.N688S	NM_015690.4	NP_056505.2			serine/threonine kinase 36											biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CATTTGGCAAATCAGCTAACT	0.478																																						ENST00000295709.3																			0				biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52						c.(2062-2064)aAt>aGt		serine/threonine kinase 36							145.0	125.0	132.0					2																	219557982		2203	4300	6503	SO:0001583	missense	27148				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding	g.chr2:219557982A>G	AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482			17209	protein-coding gene	gene with protein product	"""fused homolog (Drosophila)"""	607652	"""serine/threonine kinase 36 (fused homolog, Drosophila)"""			10806483	Standard	NM_001243313		Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.2063A>G	2.37:g.219557982A>G	ENSP00000295709:p.Asn688Ser					STK36_ENST00000392105.3_Missense_Mutation_p.N688S|STK36_ENST00000392106.2_Missense_Mutation_p.N688S|STK36_ENST00000440309.1_Missense_Mutation_p.N688S	p.N688S	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)	17	2342	+		Renal(207;0.0915)	688						Missense_Mutation	SNP	ENST00000295709.3	37	c.2063A>G	CCDS2421.1	.	.	.	.	.	.	.	.	.	.	A	9.878	1.200708	0.22121	.	.	ENSG00000163482	ENST00000295709;ENST00000392106;ENST00000392105;ENST00000440309	T;T;T;T	0.67523	-0.27;-0.27;0.46;-0.27	5.15	1.54	0.23209	Armadillo-like helical (1);	0.586950	0.15306	N	0.269367	T	0.45438	0.1342	N	0.19112	0.55	0.09310	N	1	B;B	0.20671	0.047;0.028	B;B	0.20767	0.031;0.009	T	0.29243	-1.0018	10	0.42905	T	0.14	0.0695	4.1854	0.10395	0.5301:0.1951:0.2748:0.0	.	688;688	Q9NRP7-2;Q9NRP7	.;STK36_HUMAN	S	688	ENSP00000295709:N688S;ENSP00000375955:N688S;ENSP00000375954:N688S;ENSP00000394095:N688S	ENSP00000295709:N688S	N	+	2	0	STK36	219266226	0.013000	0.17824	0.086000	0.20670	0.945000	0.59286	0.534000	0.23098	0.122000	0.18314	0.454000	0.30748	AAT		0.478	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256723.2			5	46	0	0	0	1	0	5	46				
NPAP1	23742	broad.mit.edu	37	15	24923301	24923301	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr15:24923301C>T	ENST00000329468.2	+	1	2761	c.2287C>T	c.(2287-2289)Cct>Tct	p.P763S		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	763					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											TTCCAACCATCCTTTAAATCC	0.572																																						ENST00000329468.2																			0											c.(2287-2289)Cct>Tct		nuclear pore associated protein 1							121.0	133.0	129.0					15																	24923301		2203	4300	6503	SO:0001583	missense	23742							g.chr15:24923301C>T	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.2287C>T	15.37:g.24923301C>T	ENSP00000333735:p.Pro763Ser						p.P763S	NM_018958.2	NP_061831.2					1	2761	+									Missense_Mutation	SNP	ENST00000329468.2	37	c.2287C>T	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	0.313	-0.966594	0.02232	.	.	ENSG00000185823	ENST00000329468	T	0.07114	3.22	2.23	-4.46	0.03536	.	.	.	.	.	T	0.03434	0.0099	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.42882	-0.9425	9	0.09843	T	0.71	.	1.8961	0.03257	0.1274:0.3105:0.3358:0.2263	.	763	Q9NZP6	CO002_HUMAN	S	763	ENSP00000333735:P763S	ENSP00000333735:P763S	P	+	1	0	C15orf2	22474394	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.087000	0.01360	-2.752000	0.00374	-2.036000	0.00420	CCT		0.572	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		63	172	0	0	0	1	0	63	172				
FAM47A	158724	broad.mit.edu	37	X	34149549	34149549	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chrX:34149549G>A	ENST00000346193.3	-	1	898	c.847C>T	c.(847-849)Cgg>Tgg	p.R283W		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	283										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GTCTTCTCCCGGCCCTCACAA	0.577																																						ENST00000346193.3																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(847-849)Cgg>Tgg		family with sequence similarity 47, member A							25.0	27.0	26.0					X																	34149549		2202	4299	6501	SO:0001583	missense	158724							g.chrX:34149549G>A	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.847C>T	X.37:g.34149549G>A	ENSP00000345029:p.Arg283Trp						p.R283W	NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN			1	898	-			283					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.847C>T	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	g	10.63	1.403378	0.25291	.	.	ENSG00000185448	ENST00000346193	T	0.16597	2.33	0.13	0.13	0.14746	.	.	.	.	.	T	0.15219	0.0367	N	0.11427	0.14	0.09310	N	1	D	0.67145	0.996	P	0.58210	0.835	T	0.19192	-1.0313	8	0.62326	D	0.03	.	.	.	.	.	283	Q5JRC9	FA47A_HUMAN	W	283	ENSP00000345029:R283W	ENSP00000345029:R283W	R	-	1	2	FAM47A	34059470	0.154000	0.22792	0.235000	0.24058	0.237000	0.25408	0.169000	0.16641	0.171000	0.19730	0.173000	0.16961	CGG		0.577	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		17	25	0	0	0	1	0	17	25				
ZNF714	148206	broad.mit.edu	37	19	21300392	21300392	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr19:21300392G>A	ENST00000596143.1	+	5	1247	c.922G>A	c.(922-924)Gga>Aga	p.G308R	ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000601416.1_3'UTR	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	308					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(2)|kidney(3)|lung(11)|urinary_tract(2)	18						AATTCATTCTGGAGAGAAATC	0.328																																						ENST00000596143.1																			0				endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						c.(922-924)Gga>Aga		zinc finger protein 714							22.0	24.0	23.0					19																	21300392		2172	4284	6456	SO:0001583	missense	148206				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21300392G>A	AK056006	CCDS54239.1	19p12	2013-01-08				ENSG00000160352		"""Zinc fingers, C2H2-type"""	27124	protein-coding gene	gene with protein product						12477932	Standard	NM_182515		Approved		uc002npo.4	Q96N38		ENST00000596143.1:c.922G>A	19.37:g.21300392G>A	ENSP00000472368:p.Gly308Arg					ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000291770.7_3'UTR	p.G308R	NM_182515.3	NP_872321.2	Q96N38	ZN714_HUMAN			5	1247	+			309					Q49AI1|Q86W65|Q8ND40	Missense_Mutation	SNP	ENST00000596143.1	37	c.922G>A	CCDS54239.1	.	.	.	.	.	.	.	.	.	.	.	11.05	1.523728	0.27299	.	.	ENSG00000160352	ENST00000343332;ENST00000291770	.	.	.	0.955	0.955	0.19602	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.56031	0.1958	L	0.31157	0.91	0.40817	D	0.983471	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.997;0.999	T	0.55823	-0.8080	8	0.59425	D	0.04	.	8.8708	0.35314	0.0:0.0:1.0:0.0	.	309;308;309	Q96N38-2;A6NEM4;Q96N38	.;.;ZN714_HUMAN	R	308	.	ENSP00000291770:G308R	G	+	1	0	ZNF714	21092232	0.944000	0.32072	0.077000	0.20336	0.070000	0.16714	2.811000	0.47986	0.446000	0.26666	0.449000	0.29647	GGA		0.328	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463930.1	NM_182515		13	15	0	0	0	1	0	13	15				
CLC	1178	broad.mit.edu	37	19	40225051	40225051	+	Missense_Mutation	SNP	C	C	A	rs376785804		TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr19:40225051C>A	ENST00000221804.4	-	3	250	c.175G>T	c.(175-177)Ggt>Tgt	p.G59C		NM_001828.5	NP_001819.2	Q05315	LEG10_HUMAN	Charcot-Leyden crystal galectin	59	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				multicellular organismal development (GO:0007275)|regulation of activated T cell proliferation (GO:0046006)|regulation of T cell anergy (GO:0002667)|regulation of T cell cytokine production (GO:0002724)|T cell apoptotic process (GO:0070231)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1)	12	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)		ACACGACGACCAAAGCACACT	0.493																																						ENST00000221804.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1)	12						c.(175-177)Ggt>Tgt		Charcot-Leyden crystal galectin		C	CYS/GLY	1,4405		0,1,2202	232.0	196.0	208.0		175	1.3	0.0	19		208	1,8599		0,1,4299	no	missense	CLC	NM_001828.4	159	0,2,6501	AA,AC,CC		0.0116,0.0227,0.0154	probably-damaging	59/143	40225051	2,13004	2203	4300	6503	SO:0001583	missense	1178				lipid catabolic process|multicellular organismal development		carboxylesterase activity|lysophospholipase activity|sugar binding	g.chr19:40225051C>A	L01664	CCDS33025.1	19q13.1	2013-06-12	2013-06-12		ENSG00000105205	ENSG00000105205		"""Lectins, galactoside-binding"""	2014	protein-coding gene	gene with protein product	"""eosinophil lysophospholipase"", ""lysolecithin acylhydrolase"", ""galectin 10"", ""lectin, galactoside-binding, soluble, 10"""	153310	"""Charcot-Leyden crystal protein"""			1577491, 11834744	Standard	NM_001828		Approved	LGALS10, MGC149659, Gal-10	uc002omh.3	Q05315		ENST00000221804.4:c.175G>T	19.37:g.40225051C>A	ENSP00000221804:p.Gly59Cys						p.G59C	NM_001828.5	NP_001819.2	Q05315	LPPL_HUMAN	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)	3	250	-	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	59			Galectin.		C5HZ13|C5HZ14|Q0VDE3	Missense_Mutation	SNP	ENST00000221804.4	37	c.175G>T	CCDS33025.1	.	.	.	.	.	.	.	.	.	.	.	10.86	1.469444	0.26423	2.27E-4	1.16E-4	ENSG00000105205	ENST00000221804	T	0.19532	2.14	1.3	1.3	0.21679	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.49712	0.1573	M	0.92077	3.27	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.26430	-1.0103	9	0.87932	D	0	.	5.8695	0.18795	0.0:1.0:0.0:0.0	.	59	Q05315	LPPL_HUMAN	C	59	ENSP00000221804:G59C	ENSP00000221804:G59C	G	-	1	0	CLC	44916891	0.003000	0.15002	0.003000	0.11579	0.002000	0.02628	1.348000	0.33987	0.658000	0.30925	0.305000	0.20034	GGT		0.493	CLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465225.1	NM_001828		16	88	1	0	9.16793e-09	1	9.6994e-09	16	88				
FOXN4	121643	broad.mit.edu	37	12	109719350	109719350	+	Missense_Mutation	SNP	C	C	A	rs368801239		TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr12:109719350C>A	ENST00000299162.5	-	9	1260	c.1156G>T	c.(1156-1158)Gcc>Tcc	p.A386S	FOXN4_ENST00000355216.1_Missense_Mutation_p.A206S	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	386					amacrine cell differentiation (GO:0035881)|atrioventricular canal development (GO:0036302)|heart looping (GO:0001947)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of heart contraction (GO:0008016)|regulation of transcription, DNA-templated (GO:0006355)|retina layer formation (GO:0010842)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron fate commitment (GO:0060579)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(5)|lung(9)|ovary(2)	16						TCCGGCAGGGCGTGCAGTGGC	0.657																																						ENST00000299162.5																			0				large_intestine(5)|lung(9)|ovary(2)	16						c.(1156-1158)Gcc>Tcc		forkhead box N4							34.0	28.0	30.0					12																	109719350		2202	4299	6501	SO:0001583	missense	121643				axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr12:109719350C>A	AF425596	CCDS9126.2	12q24.12	2008-02-05			ENSG00000139445	ENSG00000139445		"""Forkhead boxes"""	21399	protein-coding gene	gene with protein product		609429					Standard	NM_213596		Approved		uc001toe.4	Q96NZ1	OTTHUMG00000152868	ENST00000299162.5:c.1156G>T	12.37:g.109719350C>A	ENSP00000299162:p.Ala386Ser					FOXN4_ENST00000355216.1_Missense_Mutation_p.A206S	p.A386S	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN			9	1260	-			386					Q6ZMR4|Q96NZ0	Missense_Mutation	SNP	ENST00000299162.5	37	c.1156G>T	CCDS9126.2	.	.	.	.	.	.	.	.	.	.	C	0.349	-0.945785	0.02304	.	.	ENSG00000139445	ENST00000355216;ENST00000299162	D;D	0.94723	-3.5;-3.09	4.49	3.59	0.41128	.	0.359787	0.22995	N	0.053160	D	0.82481	0.5046	N	0.10916	0.065	0.32496	N	0.539502	B;B	0.14438	0.01;0.01	B;B	0.17979	0.02;0.01	T	0.73697	-0.3901	10	0.02654	T	1	-25.1972	3.6705	0.08272	0.1984:0.5951:0.0:0.2065	.	386;386	A6H901;Q96NZ1	.;FOXN4_HUMAN	S	206;386	ENSP00000347354:A206S;ENSP00000299162:A386S	ENSP00000299162:A386S	A	-	1	0	FOXN4	108203733	0.013000	0.17824	0.846000	0.33378	0.414000	0.31173	0.126000	0.15769	1.255000	0.44051	0.555000	0.69702	GCC		0.657	FOXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328306.1	XM_062735		3	11	1	0	0.115264	1	0.115264	3	11				
PLD1	5337	broad.mit.edu	37	3	171455389	171455389	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr3:171455389G>A	ENST00000351298.4	-	3	347	c.221C>T	c.(220-222)aCg>aTg	p.T74M	PLD1_ENST00000342215.6_Missense_Mutation_p.T74M|PLD1_ENST00000356327.5_Missense_Mutation_p.T74M|PLD1_ENST00000340989.4_Missense_Mutation_p.T74M	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	74					chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)	p.T74M(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GGAGAGATACGTCTGTATATT	0.358																																					NSCLC(149;2174 3517 34058)	ENST00000356327.5																			1	Substitution - Missense(1)	p.T74M(1)	large_intestine(1)	breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63						c.(220-222)aCg>aTg		phospholipase D1, phosphatidylcholine-specific	Choline(DB00122)						106.0	104.0	105.0					3																	171455389		2203	4300	6503	SO:0001583	missense	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171455389G>A	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.221C>T	3.37:g.171455389G>A	ENSP00000342793:p.Thr74Met					PLD1_ENST00000351298.4_Missense_Mutation_p.T74M|PLD1_ENST00000340989.4_Missense_Mutation_p.T74M|PLD1_ENST00000342215.6_Missense_Mutation_p.T74M	p.T74M	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		3	291	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		74						Missense_Mutation	SNP	ENST00000351298.4	37	c.221C>T	CCDS3216.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.813057	0.50527	.	.	ENSG00000075651	ENST00000356327;ENST00000351298;ENST00000342215;ENST00000340989;ENST00000418087	T;T;T;T;T	0.44881	3.39;3.39;1.49;3.26;0.91	5.42	2.62	0.31277	.	0.278522	0.36703	N	0.002446	T	0.31796	0.0808	L	0.36672	1.1	0.28574	N	0.910472	P;P	0.41624	0.757;0.753	B;B	0.39339	0.186;0.297	T	0.16129	-1.0413	10	0.46703	T	0.11	-8.7706	10.7529	0.46219	0.2117:0.0:0.7883:0.0	.	97;74	Q59EA4;Q13393	.;PLD1_HUMAN	M	74	ENSP00000348681:T74M;ENSP00000342793:T74M;ENSP00000339936:T74M;ENSP00000340326:T74M;ENSP00000400639:T74M	ENSP00000340326:T74M	T	-	2	0	PLD1	172938083	0.970000	0.33590	0.998000	0.56505	0.987000	0.75469	1.728000	0.38105	0.755000	0.32990	-0.126000	0.14955	ACG		0.358	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		30	23	0	0	0	1	0	30	23				
MYO5B	4645	broad.mit.edu	37	18	47367799	47367799	+	Missense_Mutation	SNP	G	G	A	rs200907971	byFrequency	TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr18:47367799G>A	ENST00000285039.7	-	35	4936	c.4637C>T	c.(4636-4638)aCg>aTg	p.T1546M	MYO5B_ENST00000592688.1_Missense_Mutation_p.T116M|SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000324581.6_Missense_Mutation_p.T661M	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1546	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CCAGAATGACGTCATCTCAAA	0.522													G|||	6	0.00119808	0.0	0.0	5008	,	,		23410	0.005		0.001	False		,,,				2504	0.0					ENST00000285039.7																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(4636-4638)aCg>aTg		myosin VB							157.0	159.0	158.0					18																	47367799		2049	4190	6239	SO:0001583	missense	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47367799G>A	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.4637C>T	18.37:g.47367799G>A	ENSP00000285039:p.Thr1546Met					MYO5B_ENST00000592688.1_Missense_Mutation_p.T116M|MYO5B_ENST00000324581.6_Missense_Mutation_p.T661M|SCARNA17_ENST00000589499.1_RNA	p.T1546M	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	35	4936	-			1546			Dilute.		B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	c.4637C>T	CCDS42436.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	17.31	3.358273	0.61403	.	.	ENSG00000167306	ENST00000285039;ENST00000324581	T;T	0.18016	2.24;2.24	4.78	4.78	0.61160	Dilute (1);	0.000000	0.85682	D	0.000000	T	0.32823	0.0842	L	0.36672	1.1	0.51767	D	0.99993	P;D	0.89917	0.908;1.0	B;D	0.91635	0.241;0.999	T	0.01440	-1.1354	10	0.35671	T	0.21	.	17.9795	0.89137	0.0:0.0:1.0:0.0	.	1546;661	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	M	1546;661	ENSP00000285039:T1546M;ENSP00000315531:T661M	ENSP00000285039:T1546M	T	-	2	0	MYO5B	45621797	0.997000	0.39634	0.958000	0.39756	0.968000	0.65278	2.570000	0.45981	2.636000	0.89361	0.655000	0.94253	ACG		0.522	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			38	101	0	0	0	1	0	38	101				
KIAA0319	9856	broad.mit.edu	37	6	24559320	24559320	+	Silent	SNP	C	C	T			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr6:24559320C>T	ENST00000378214.3	-	17	3179	c.2655G>A	c.(2653-2655)gtG>gtA	p.V885V	KIAA0319_ENST00000543707.1_Silent_p.V885V|KIAA0319_ENST00000535378.1_Silent_p.V876V|KIAA0319_ENST00000430948.2_Silent_p.V840V|KIAA0319_ENST00000537886.1_Silent_p.V885V	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	885					negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GATTTCGGGCCACTTCAGCAG	0.493																																						ENST00000535378.1																			0				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						c.(2626-2628)gtG>gtA		KIAA0319							76.0	66.0	70.0					6																	24559320		2203	4300	6503	SO:0001819	synonymous_variant	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24559320C>T	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.2655G>A	6.37:g.24559320C>T						KIAA0319_ENST00000430948.2_Silent_p.V840V|KIAA0319_ENST00000378214.3_Silent_p.V885V|KIAA0319_ENST00000543707.1_Silent_p.V885V|KIAA0319_ENST00000537886.1_Silent_p.V885V	p.V876V	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN			18	3270	-			885					A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Silent	SNP	ENST00000378214.3	37	c.2628G>A	CCDS34348.1																																																																																				0.493	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		8	21	0	0	0	1	0	8	21				
ANO1	55107	broad.mit.edu	37	11	70013431	70013431	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr11:70013431G>A	ENST00000355303.5	+	21	2440	c.2135G>A	c.(2134-2136)cGg>cAg	p.R712Q	ANO1_ENST00000530676.1_Missense_Mutation_p.R566Q|ANO1_ENST00000398543.2_Missense_Mutation_p.R566Q|ANO1_ENST00000538023.1_Missense_Mutation_p.R712Q|ANO1_ENST00000531349.1_Missense_Mutation_p.R421Q	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	712					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	AGGAAACAGCGGTACGAGGTG	0.562																																						ENST00000355303.5																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						c.(2134-2136)cGg>cAg		anoctamin 1, calcium activated chloride channel							66.0	70.0	69.0					11																	70013431		2028	4167	6195	SO:0001583	missense	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:70013431G>A	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.2135G>A	11.37:g.70013431G>A	ENSP00000347454:p.Arg712Gln					ANO1_ENST00000531349.1_Missense_Mutation_p.R421Q|ANO1_ENST00000538023.1_Missense_Mutation_p.R712Q|ANO1_ENST00000398543.2_Missense_Mutation_p.R566Q|ANO1_ENST00000530676.1_Missense_Mutation_p.R566Q	p.R712Q	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN			21	2440	+			712					A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	ENST00000355303.5	37	c.2135G>A	CCDS44663.1	.	.	.	.	.	.	.	.	.	.	G	8.706	0.910932	0.17833	.	.	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000530676;ENST00000531349	T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11	4.93	4.02	0.46733	.	0.119402	0.56097	D	0.000022	T	0.34803	0.0910	N	0.12182	0.205	0.58432	D	0.999996	B;P	0.38395	0.17;0.629	B;B	0.32805	0.094;0.153	T	0.11817	-1.0572	9	.	.	.	.	12.9714	0.58515	0.0781:0.0:0.9219:0.0	.	421;712	E9PNA7;Q5XXA6	.;ANO1_HUMAN	Q	712;712;566;470;566;421	ENSP00000347454:R712Q;ENSP00000444689:R712Q;ENSP00000381551:R566Q;ENSP00000435797:R566Q;ENSP00000432843:R421Q	.	R	+	2	0	ANO1	69691079	1.000000	0.71417	0.817000	0.32601	0.164000	0.22412	4.381000	0.59587	1.073000	0.40885	0.655000	0.94253	CGG		0.562	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		6	22	0	0	0	1	0	6	22				
TAS2R16	50833	broad.mit.edu	37	7	122635560	122635560	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr7:122635560C>T	ENST00000249284.2	-	1	194	c.129G>A	c.(127-129)atG>atA	p.M43I		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	43					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	bitter taste receptor activity (GO:0033038)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGTCCACAGGCATCAGCCTTC	0.443																																						ENST00000249284.2																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(127-129)atG>atA		taste receptor, type 2, member 16							66.0	63.0	64.0					7																	122635560		2203	4300	6503	SO:0001583	missense	50833				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	g.chr7:122635560C>T	AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14921	protein-coding gene	gene with protein product		604867				10761934	Standard	NM_016945		Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.129G>A	7.37:g.122635560C>T	ENSP00000249284:p.Met43Ile						p.M43I	NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN			1	194	-			43					A4D0X2|Q502V3|Q549U8|Q645W1	Missense_Mutation	SNP	ENST00000249284.2	37	c.129G>A	CCDS5785.1	.	.	.	.	.	.	.	.	.	.	C	5.115	0.206865	0.09704	.	.	ENSG00000128519	ENST00000249284	T	0.36699	1.24	4.61	-0.967	0.10316	.	1.204700	0.06172	N	0.677955	T	0.16981	0.0408	N	0.15975	0.35	0.20196	N	0.999921	B	0.02656	0.0	B	0.01281	0.0	T	0.21586	-1.0241	10	0.22706	T	0.39	.	0.624	0.00783	0.1679:0.1961:0.1737:0.4622	.	43	Q9NYV7	T2R16_HUMAN	I	43	ENSP00000249284:M43I	ENSP00000249284:M43I	M	-	3	0	TAS2R16	122422796	0.000000	0.05858	0.328000	0.25416	0.099000	0.18886	-0.993000	0.03720	0.038000	0.15604	-1.093000	0.02169	ATG		0.443	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347409.1	NM_016945		17	33	0	0	0	1	0	17	33				
SOWAHC	65124	broad.mit.edu	37	2	110373253	110373253	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr2:110373253delC	ENST00000356454.3	+	1	1343	c.1187delC	c.(1186-1188)gccfs	p.A396fs	SEPT10_ENST00000415095.1_5'Flank|SEPT10_ENST00000437928.1_5'Flank|SEPT10_ENST00000356688.4_5'Flank|SEPT10_ENST00000545389.1_5'Flank|SEPT10_ENST00000397712.2_5'Flank|SEPT10_ENST00000334001.6_5'Flank|SEPT10_ENST00000397714.2_5'Flank	NM_023016.3	NP_075392.2	Q53LP3	SWAHC_HUMAN	sosondowah ankyrin repeat domain family member C	396																	CTGGTGGGAGCCCTGGACGAG	0.617																																						ENST00000356454.3																			0											c.(1186-1188)gcfs		sosondowah ankyrin repeat domain family member C							38.0	47.0	44.0					2																	110373253		2201	4296	6497	SO:0001589	frameshift_variant	65124							g.chr2:110373253delC	AK023346	CCDS33270.1	2q13	2013-01-10	2012-01-12	2012-01-12	ENSG00000198142	ENSG00000198142		"""Ankyrin repeat domain containing"""	26149	protein-coding gene	gene with protein product			"""ankyrin repeat domain 57"""	C2orf26, ANKRD57		22234889	Standard	NM_023016		Approved	FLJ21870	uc002tfb.3	Q53LP3	OTTHUMG00000153219	ENST00000356454.3:c.1187delC	2.37:g.110373253delC	ENSP00000365830:p.Ala396fs						p.A396fs	NM_023016.3	NP_075392.2	Q53LP3	ANR57_HUMAN			1	1343	+			396					Q8NE15|Q9H6U1	Frame_Shift_Del	DEL	ENST00000356454.3	37	c.1187delC	CCDS33270.1																																																																																				0.617	SOWAHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330168.1	NM_023016		29	36						29	36	---	---	---	---
ERCC3	2071	broad.mit.edu	37	2	128030454	128030454	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr2:128030454delA	ENST00000285398.2	-	11	1908	c.1814delT	c.(1813-1815)atcfs	p.I605fs	ERCC3_ENST00000493187.2_Frame_Shift_Del_p.I541fs	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	605	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GGATATGAAGATGGTGTTAAT	0.483			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000493187.2			yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	"""Mis, S"""	"""excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31						c.(1621-1623)acfs	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 3							176.0	156.0	163.0					2																	128030454		2203	4300	6503	SO:0001589	frameshift_variant	2071	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding	g.chr2:128030454delA	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	3435	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group B complementing"""	133510	"""excision repair cross-complementing rodent repair deficiency, complementation group 3"""			8202161	Standard	NM_000122		Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.1814delT	2.37:g.128030454delA	ENSP00000285398:p.Ile605fs					ERCC3_ENST00000285398.2_Frame_Shift_Del_p.I605fs	p.I541fs			P19447	ERCC3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.073)	11	2085	-	Colorectal(110;0.1)		605					Q53QM0	Frame_Shift_Del	DEL	ENST00000285398.2	37	c.1622delT	CCDS2144.1																																																																																				0.483	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331028.1	NM_000122		36	66						36	66	---	---	---	---
INTS4L2	644619	broad.mit.edu	37	7	65150816	65150816	+	RNA	DEL	A	A	-	rs376935907		TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr7:65150816delA	ENST00000430126.2	+	0	757							Q2T9F4	IN4L2_HUMAN	integrator complex subunit 4-like 2																		TTCATCCCTCACCCCCCCCCC	0.463																																						ENST00000430126.2																			0																																																			0							g.chr7:65150816delA	BC111554		7q11.21	2013-03-26			ENSG00000232270	ENSG00000273024			22351	other	unknown							Standard	NR_027392		Approved	MGC133166	uc003tue.2	Q2T9F4	OTTHUMG00000156558		7.37:g.65150816delA														0	757	+									RNA	DEL	ENST00000430126.2	37																																																																																						0.463	INTS4L2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345545.2	NR_027392		4	9						4	9	---	---	---	---
ADAMTSL1	92949	broad.mit.edu	37	9	18826274	18826274	+	Intron	DEL	C	C	-	rs80308610		TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr9:18826274delC	ENST00000380548.4	+	22	4273				ADAMTSL1_ENST00000380545.5_Frame_Shift_Del_p.F11fs	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1							proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TTTTTTTTTTCTTCCTAGGAG	0.488																																						ENST00000380545.5																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(28-30)ttfs		ADAMTS-like 1							17.0	17.0	17.0					9																	18826274		1880	4106	5986	SO:0001627	intron_variant	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18826274delC	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.3935-8C>-	9.37:g.18826274delC						ADAMTSL1_ENST00000380548.4_Intron	p.F11fs			Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	1	139	+			0					A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Frame_Shift_Del	DEL	ENST00000380548.4	37	c.30delC	CCDS47954.1																																																																																				0.488	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			2	4						2	4	---	---	---	---
TAF1L	138474	broad.mit.edu	37	9	32633529	32633529	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr9:32633529delA	ENST00000242310.4	-	1	2138	c.2049delT	c.(2047-2049)tttfs	p.F683fs	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	683					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GTGTGCGCATAAAAAACAACT	0.453																																						ENST00000242310.4																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(2047-2049)ttfs		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							180.0	164.0	169.0					9																	32633529		2203	4300	6503	SO:0001589	frameshift_variant	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32633529delA	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2049delT	9.37:g.32633529delA	ENSP00000418379:p.Phe683fs					RP11-555J4.4_ENST00000430787.1_RNA	p.F683fs	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	2138	-			683					Q0VG57	Frame_Shift_Del	DEL	ENST00000242310.4	37	c.2049delT	CCDS35003.1																																																																																				0.453	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			63	38						63	38	---	---	---	---
TYSND1	219743	broad.mit.edu	37	10	71905929	71905931	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr10:71905929_71905931delCAG	ENST00000287078.6	-	1	411_413	c.412_414delCTG	c.(412-414)ctgdel	p.L138del	TYSND1_ENST00000494143.1_5'Flank|TYSND1_ENST00000335494.5_In_Frame_Del_p.L138del	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	138					protein homooligomerization (GO:0051260)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of fatty acid beta-oxidation (GO:0031998)	membrane (GO:0016020)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						CCGGGCAGCTCAGCAGCAGCAGC	0.739																																						ENST00000287078.6																			0				endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						c.(412-414)del		trypsin domain containing 1			,	28,3524		5,18,1753					,	3.1	1.0			5	76,7040		14,48,3496	no	coding,coding	TYSND1	NM_173555.2,NM_001040273.1	,	19,66,5249	A1A1,A1R,RR		1.068,0.7883,0.9749	,	,		104,10564				SO:0001651	inframe_deletion	219743				proteolysis	peroxisome	serine-type endopeptidase activity	g.chr10:71905929_71905931delCAG	BC016840	CCDS31213.1, CCDS31214.1	10q22.1	2009-11-06		2006-09-21	ENSG00000156521	ENSG00000156521			28531	protein-coding gene	gene with protein product		611017				17255948	Standard	NM_173555		Approved	MGC34695, NET41	uc001jqr.4	Q2T9J0	OTTHUMG00000018397	ENST00000287078.6:c.412_414delCTG	10.37:g.71905938_71905940delCAG	ENSP00000287078:p.Leu138del					TYSND1_ENST00000335494.5_In_Frame_Del_p.L138del	p.L138del	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN			1	411_413	-			138					Q5SQT4|Q5SQU1|Q8N6H2|Q96AR5	In_Frame_Del	DEL	ENST00000287078.6	37	c.412_414delCTG	CCDS31213.1																																																																																				0.739	TYSND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048483.1	NM_173555		2	4						2	4	---	---	---	---
FRG2B	441581	broad.mit.edu	37	10	135438960	135438960	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr10:135438960delC	ENST00000425520.1	-	4	532	c.480delG	c.(478-480)aggfs	p.R160fs	FRG2B_ENST00000443774.1_Frame_Shift_Del_p.R161fs	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	160						nucleus (GO:0005634)				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GGGCCCGAGACCTATGCCGCT	0.557																																						ENST00000443774.1																			0				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20						c.(481-483)agfs		FSHD region gene 2 family, member B							117.0	141.0	133.0					10																	135438960		2195	4299	6494	SO:0001589	frameshift_variant	441581					nucleus		g.chr10:135438960delC	AY744466	CCDS44502.1	10q26.3	2012-10-02			ENSG00000225899	ENSG00000225899			33518	protein-coding gene	gene with protein product						15520407	Standard	NM_001080998		Approved		uc010qvg.2	Q96QU4	OTTHUMG00000019328	ENST00000425520.1:c.480delG	10.37:g.135438960delC	ENSP00000401310:p.Arg160fs					FRG2B_ENST00000425520.1_Frame_Shift_Del_p.R160fs	p.R161fs			Q96QU4	FRG2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	4	532	-		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	160					Q5VSQ1	Frame_Shift_Del	DEL	ENST00000425520.1	37	c.483delG	CCDS44502.1																																																																																				0.557	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467780.1	NM_001080998		7	204						7	204	---	---	---	---
LOC101927708	101927708	broad.mit.edu	37	11	3552650	3552651	+	RNA	INS	-	-	G	rs34642454		TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr11:3552650_3552651insG	ENST00000527970.1	-	0	285				RP13-726E6.1_ENST00000534291.1_lincRNA																							CAGCACCCCATGGGGGGGCCCT	0.5																																						ENST00000527970.1																			0																																																			0							g.chr11:3552650_3552651insG																													11.37:g.3552657_3552657dupG														0	285	-									RNA	INS	ENST00000527970.1	37																																																																																						0.500	RP13-726E6.2-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000392273.1			5	4						5	4	---	---	---	---
FOLH1B	219595	broad.mit.edu	37	11	89421732	89421734	+	RNA	DEL	TGT	TGT	-	rs113511902|rs113024345		TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr11:89421732_89421734delTGT	ENST00000532352.1	+	0	1421							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GAAATAATTCTGTTGTTTTATCT	0.315																																						ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B																																						219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89421732_89421734delTGT	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89421735_89421737delTGT										Q9HBA9	FOH1B_HUMAN			0	1421	+									RNA	DEL	ENST00000532352.1	37																																																																																						0.315	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		25	65						25	65	---	---	---	---
MMP12	4321	broad.mit.edu	37	11	102738793	102738794	+	RNA	INS	-	-	T	rs112457531|rs5794199|rs199886633|rs68192524		TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr11:102738793_102738794insT	ENST00000532855.1	-	0	727_728							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	TGAGGAACAAGTGGTGCCTAAG	0.416																																						ENST00000532855.1																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26								matrix metallopeptidase 12 (macrophage elastase)	Acetohydroxamic Acid(DB00551)																																					4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102738793_102738794insT	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102738794_102738794dupT										P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	0	727_728	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)						B2R9X8|B7ZLF6|Q2M1L9	RNA	INS	ENST00000532855.1	37																																																																																						0.416	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		3	6						3	6	---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57596983	57596986	+	Frame_Shift_Del	DEL	GAGT	GAGT	-			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr12:57596983_57596986delGAGT	ENST00000243077.3	+	69	11197_11200	c.10731_10734delGAGT	c.(10729-10734)gagagtfs	p.ES3577fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3577	LDL-receptor class A 27. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCTGCTCCGAGAGTGAGTTCTCCT	0.676																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(10729-10734)gafs		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)																																			SO:0001589	frameshift_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57596983_57596986delGAGT	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.10731_10734delGAGT	12.37:g.57596987_57596990delGAGT	ENSP00000243077:p.Glu3577fs						p.ES3577fs	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	69	11197_11200	+			3577			LDL-receptor class A 27.		Q2PP12|Q86SW0|Q8IVG8	Frame_Shift_Del	DEL	ENST00000243077.3	37	c.10731_10734delGAGT	CCDS8932.1																																																																																				0.676	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		4	7						4	7	---	---	---	---
GTF3C1	2975	broad.mit.edu	37	16	27503732	27503733	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr16:27503732_27503733delAT	ENST00000356183.4	-	19	3092_3093	c.3077_3078delAT	c.(3076-3078)tatfs	p.Y1026fs	GTF3C1_ENST00000561623.1_Frame_Shift_Del_p.Y1026fs	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1026					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						AGTTCAGGACATAGAGGCGCCT	0.54																																						ENST00000356183.4																			0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(3076-3078)tfs		general transcription factor IIIC, polypeptide 1, alpha 220kDa																																				SO:0001589	frameshift_variant	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27503732_27503733delAT	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.3077_3078delAT	16.37:g.27503732_27503733delAT	ENSP00000348510:p.Tyr1026fs					GTF3C1_ENST00000561623.1_Frame_Shift_Del_p.Y1026fs	p.Y1026fs	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN			19	3092_3093	-			1026					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Frame_Shift_Del	DEL	ENST00000356183.4	37	c.3077_3078delAT	CCDS32414.1																																																																																				0.540	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		31	57						31	57	---	---	---	---
LOC101927755	101927755	broad.mit.edu	37	17	58066608	58066608	+	lincRNA	DEL	T	T	-	rs200816848		TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr17:58066608delT	ENST00000586209.1	+	0	158																											TTGATTGTGATTTTTTTTTTT	0.313																																						ENST00000586209.1																			0																																																			0							g.chr17:58066608delT																													17.37:g.58066608delT														0	158	+									RNA	DEL	ENST00000586209.1	37																																																																																						0.313	RP11-178C3.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000449162.1			2	4						2	4	---	---	---	---
NDUFA7	4701	broad.mit.edu	37	19	8381422	8381424	+	In_Frame_Del	DEL	ATG	ATG	-			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr19:8381422_8381424delATG	ENST00000301457.2	-	3	244_246	c.207_209delCAT	c.(205-210)atcatg>atg	p.I69del	NDUFA7_ENST00000598884.1_In_Frame_Del_p.I69del	NM_005001.3	NP_004992.2	O95182	NDUA7_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa	69					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)	5						CTGCGACGACATGATGATGGAAG	0.611																																						ENST00000301457.2																			0				NS(1)|central_nervous_system(1)|lung(2)|ovary(1)	5						c.(205-210)atg>at		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa	NADH(DB00157)																																			SO:0001651	inframe_deletion	4701				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr19:8381422_8381424delATG	AF050637	CCDS42492.1	19p13.2	2013-05-14	2002-08-29		ENSG00000267855	ENSG00000267855		"""Mitochondrial respiratory chain complex / Complex I"""	7691	protein-coding gene	gene with protein product	"""complex I B14.5a subunit"""	602139	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7 (14.5kD, B14.5a)"""			9763676	Standard	NM_005001		Approved	B14.5a	uc002mjm.2	O95182	OTTHUMG00000182459	ENST00000301457.2:c.207_209delCAT	19.37:g.8381428_8381430delATG	ENSP00000301457:p.Ile69del					NDUFA7_ENST00000598884.1_In_Frame_Del_p.IM69del	p.IM69del	NM_005001.3	NP_004992.2	O95182	NDUA7_HUMAN			3	244_246	-			69						In_Frame_Del	DEL	ENST00000301457.2	37	c.207_209delCAT	CCDS42492.1																																																																																				0.611	NDUFA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461373.1	NM_005001		29	68						29	68	---	---	---	---
