#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
ZNF677	342926	broad.mit.edu	37	19	53740670	53740670	+	Missense_Mutation	SNP	C	C	T			TCGA-CE-A27D-01A-11D-A16O-08	TCGA-CE-A27D-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dad729-7b44-4b6d-b01f-cbcf57244b77	25cd0ba4-5250-45ac-96b5-e16b21a252f8	g.chr19:53740670C>T	ENST00000598513.1	-	5	1460	c.1310G>A	c.(1309-1311)gGc>gAc	p.G437D	ZNF677_ENST00000333952.4_Missense_Mutation_p.G437D	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	437					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		AAAAGCCCTGCCACACACATT	0.368																																						uc002qbf.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1309-1311)gGc>gAc		Homo sapiens zinc finger protein 677 (ZNF677), mRNA.							47.0	44.0	45.0					19																	53740670		2203	4300	6503	SO:0001583	missense	342926				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53740670C>T	BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"""Zinc fingers, C2H2-type"", ""-"""	28730	protein-coding gene	gene with protein product	"""hypothetical protein MGC48625"""					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.1310G>A	19.37:g.53740670C>T	ENSP00000469391:p.Gly437Asp					ZNF677_uc002qbg.1_Missense_Mutation_p.G437D	p.G437D	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN		GBM - Glioblastoma multiforme(134;0.00352)	4	1495	-			437						Missense_Mutation	SNP	ENST00000598513.1	37	c.1310G>A	CCDS12861.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.936199	0.34189	.	.	ENSG00000197928	ENST00000333952	T	0.58358	0.34	2.21	0.0737	0.14392	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.220904	0.23270	N	0.050030	T	0.27559	0.0677	N	0.11000	0.08	0.26011	N	0.981984	B	0.27594	0.182	B	0.28553	0.091	T	0.14699	-1.0463	10	0.59425	D	0.04	.	4.778	0.13189	0.0:0.5141:0.0:0.4859	.	437	Q86XU0	ZN677_HUMAN	D	437	ENSP00000334394:G437D	ENSP00000334394:G437D	G	-	2	0	ZNF677	58432482	0.015000	0.18098	0.754000	0.31244	0.882000	0.50991	0.154000	0.16343	0.082000	0.17018	0.655000	0.94253	GGC		0.368	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464189.1	NM_182609		3	34	0	0	0	1	0	3	34				
MCMBP	79892	broad.mit.edu	37	10	121612707	121612707	+	Splice_Site	SNP	G	G	A	rs111837774		TCGA-CE-A27D-01A-11D-A16O-08	TCGA-CE-A27D-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dad729-7b44-4b6d-b01f-cbcf57244b77	25cd0ba4-5250-45ac-96b5-e16b21a252f8	g.chr10:121612707G>A	ENST00000360003.3	-	6	599		c.e6-1		MCMBP_ENST00000466047.1_Intron|MCMBP_ENST00000369077.3_Splice_Site	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein						DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						TAACATAGGCGTTAAACGAAA	0.363																																						uc001ler.2																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						c.e6-1		Homo sapiens minichromosome maintenance complex binding protein (MCMBP), transcript variant 1, mRNA.							208.0	182.0	190.0					10																	121612707		2203	4300	6503	SO:0001630	splice_region_variant	79892				DNA-dependent DNA replication|S phase of mitotic cell cycle|cell division|mitosis|sister chromatid cohesion	nucleus	chromatin binding	g.chr10:121612707G>A	BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"""chromosome 10 open reading frame 119"""	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159	ENST00000360003.3:c.430-1C>T	10.37:g.121612707G>A						MCMBP_uc001leq.1_Splice_Site|MCMBP_uc001les.1_Intron|MCMBP_uc001let.1_Splice_Site	p.A144_splice	NM_024834	NP_079110	Q9BTE3	MCMBP_HUMAN			6	728	-			144					B3KSP7|Q6IA56|Q9BVT9|Q9H916	Splice_Site	SNP	ENST00000360003.3	37	c.430_splice	CCDS7617.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.249790	0.80024	.	.	ENSG00000197771	ENST00000360003;ENST00000369077	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7333	0.88384	0.0:0.122:0.878:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MCMBP	121602697	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.881000	0.56152	2.941000	0.99782	0.655000	0.94253	.		0.363	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834	Intron	10	80	0	0	0	1	0	10	80				
CYP2U1	113612	broad.mit.edu	37	4	108866315	108866315	+	Missense_Mutation	SNP	C	C	T			TCGA-CE-A27D-01A-11D-A16O-08	TCGA-CE-A27D-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dad729-7b44-4b6d-b01f-cbcf57244b77	25cd0ba4-5250-45ac-96b5-e16b21a252f8	g.chr4:108866315C>T	ENST00000332884.6	+	2	955	c.680C>T	c.(679-681)gCc>gTc	p.A227V	CYP2U1_ENST00000508453.1_Missense_Mutation_p.A18V|RP11-286E11.1_ENST00000513071.1_RNA	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U, polypeptide 1	227					arachidonic acid metabolic process (GO:0019369)|cell death (GO:0008219)|omega-hydroxylase P450 pathway (GO:0097267)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		ATCAGCAATGCCGTCTCTAAC	0.438																																						uc003hyp.3																			0		p.A227A(1)		breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10						c.(679-681)gCc>gTc		Homo sapiens cytochrome P450, family 2, subfamily U, polypeptide 1 (CYP2U1), mRNA.							138.0	134.0	135.0					4																	108866315		2203	4300	6503	SO:0001583	missense	113612				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr4:108866315C>T	BC012027	CCDS34047.1	4q25	2012-11-23			ENSG00000155016	ENSG00000155016		"""Cytochrome P450s"""	20582	protein-coding gene	gene with protein product	"""spastic paraplegia 49"""	610670				14975754, 14660610	Standard	XM_005262717		Approved	SPG49	uc003hyp.3	Q7Z449	OTTHUMG00000161084	ENST00000332884.6:c.680C>T	4.37:g.108866315C>T	ENSP00000333212:p.Ala227Val					CYP2U1_uc011cfi.2_Missense_Mutation_p.A18V	p.A227V	NM_183075	NP_898898	Q7Z449	CP2U1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000128)	1	763	+		Hepatocellular(203;0.217)	227					B2RMV7|Q96EQ6	Missense_Mutation	SNP	ENST00000332884.6	37	c.680C>T	CCDS34047.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.974651	0.92919	.	.	ENSG00000155016	ENST00000332884;ENST00000424249;ENST00000508453	T;T	0.69435	-0.4;-0.4	5.63	5.63	0.86233	.	0.101545	0.64402	D	0.000002	D	0.83871	0.5348	M	0.83483	2.645	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.85220	0.1026	10	0.62326	D	0.03	.	19.32	0.94234	0.0:1.0:0.0:0.0	.	227	Q7Z449	CP2U1_HUMAN	V	227;184;18	ENSP00000333212:A227V;ENSP00000423667:A18V	ENSP00000333212:A227V	A	+	2	0	CYP2U1	109085764	1.000000	0.71417	0.951000	0.38953	0.973000	0.67179	5.759000	0.68785	2.652000	0.90054	0.655000	0.94253	GCC		0.438	CYP2U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363691.2	NM_183075		4	76	0	0	0	1	0	4	76				
CCDC89	220388	broad.mit.edu	37	11	85396623	85396623	+	Missense_Mutation	SNP	T	T	C			TCGA-CE-A27D-01A-11D-A16O-08	TCGA-CE-A27D-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dad729-7b44-4b6d-b01f-cbcf57244b77	25cd0ba4-5250-45ac-96b5-e16b21a252f8	g.chr11:85396623T>C	ENST00000316398.3	-	1	697	c.551A>G	c.(550-552)gAg>gGg	p.E184G	CREBZF_ENST00000531515.1_5'Flank|CREBZF_ENST00000534224.1_5'Flank	NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	184						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				AGTGAGGGCCTCACACCGGAC	0.587																																						uc001pau.1																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15						c.(550-552)gAg>gGg		Homo sapiens coiled-coil domain containing 89 (CCDC89), mRNA.							122.0	114.0	117.0					11																	85396623		2203	4299	6502	SO:0001583	missense	220388					cytoplasm|nucleus		g.chr11:85396623T>C	AK095478	CCDS8270.1	11q14.1	2006-03-16			ENSG00000179071	ENSG00000179071			26762	protein-coding gene	gene with protein product						12477932	Standard	NM_152723		Approved	FLJ38159	uc001pau.1	Q8N998	OTTHUMG00000166976	ENST00000316398.3:c.551A>G	11.37:g.85396623T>C	ENSP00000320649:p.Glu184Gly						p.E184G	NM_152723	NP_689936	Q8N998	CCD89_HUMAN			0	698	-		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	184						Missense_Mutation	SNP	ENST00000316398.3	37	c.551A>G	CCDS8270.1	.	.	.	.	.	.	.	.	.	.	t	8.037	0.762928	0.15914	.	.	ENSG00000179071	ENST00000316398	.	.	.	5.79	4.65	0.58169	.	0.505445	0.21147	N	0.079393	T	0.26048	0.0635	L	0.43923	1.385	0.09310	N	1	P	0.38504	0.634	B	0.33620	0.167	T	0.14309	-1.0477	8	.	.	.	-2.9858	6.9545	0.24563	0.0:0.0768:0.2833:0.6399	.	184	Q8N998	CCD89_HUMAN	G	184	.	.	E	-	2	0	CCDC89	85074271	0.003000	0.15002	0.378000	0.26068	0.135000	0.20990	1.264000	0.33015	0.992000	0.38840	0.529000	0.55759	GAG		0.587	CCDC89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392182.1	NM_152723		3	147	0	0	0	1	0	3	147				
ANKRD17	26057	broad.mit.edu	37	4	73957562	73957562	+	Missense_Mutation	SNP	G	G	A			TCGA-CE-A27D-01A-11D-A16O-08	TCGA-CE-A27D-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dad729-7b44-4b6d-b01f-cbcf57244b77	25cd0ba4-5250-45ac-96b5-e16b21a252f8	g.chr4:73957562G>A	ENST00000358602.4	-	29	5899	c.5783C>T	c.(5782-5784)cCt>cTt	p.P1928L	ANKRD17_ENST00000330838.6_Missense_Mutation_p.P1677L|ANKRD17_ENST00000509867.2_Missense_Mutation_p.P1815L	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1928					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGGCCTGACAGGAAACGGACC	0.532																																						uc003hgp.3																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(5782-5784)cCt>cTt		Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.							86.0	82.0	83.0					4																	73957562		2203	4300	6503	SO:0001583	missense	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73957562G>A	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.5783C>T	4.37:g.73957562G>A	ENSP00000351416:p.Pro1928Leu					ANKRD17_uc003hgo.3_Missense_Mutation_p.P1815L|ANKRD17_uc003hgq.3_Missense_Mutation_p.P1677L|ANKRD17_uc003hgr.3_Missense_Mutation_p.P1927L	p.P1928L	NM_032217	NP_115593	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		28	5900	-	Breast(15;0.000295)		1928					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	c.5783C>T	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.762073	0.69763	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000426917	T;T;T	0.70282	-0.47;-0.47;-0.42	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000003	D	0.82527	0.5056	L	0.55990	1.75	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.996;0.996	T	0.83346	-0.0005	10	0.87932	D	0	.	19.7368	0.96210	0.0:0.0:1.0:0.0	.	1927;1677;1928;1815	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	L	1928;1335;1677;1815;312	ENSP00000351416:P1928L;ENSP00000332265:P1677L;ENSP00000427151:P1815L	ENSP00000332265:P1677L	P	-	2	0	ANKRD17	74176426	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.672000	0.90937	0.460000	0.39030	CCT		0.532	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		3	89	0	0	0	1	0	3	89				
RAI14	26064	broad.mit.edu	37	5	34811917	34811917	+	Silent	SNP	G	G	A			TCGA-CE-A27D-01A-11D-A16O-08	TCGA-CE-A27D-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dad729-7b44-4b6d-b01f-cbcf57244b77	25cd0ba4-5250-45ac-96b5-e16b21a252f8	g.chr5:34811917G>A	ENST00000265109.3	+	9	890	c.603G>A	c.(601-603)gtG>gtA	p.V201V	RAI14_ENST00000397449.1_Silent_p.V194V|RAI14_ENST00000428746.2_Silent_p.V201V|RAI14_ENST00000506376.1_Silent_p.V193V|RAI14_ENST00000512629.1_Silent_p.V201V|RAI14_ENST00000515799.1_Silent_p.V204V|RAI14_ENST00000503673.1_Silent_p.V201V	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	201						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					CTAACGCTGTGGAAGCCTTAA	0.378																																						uc003jis.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(610-612)gtG>gtA		Homo sapiens retinoic acid induced 14 (RAI14), transcript variant 6, mRNA.							71.0	74.0	73.0					5																	34811917		2203	4300	6503	SO:0001819	synonymous_variant	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34811917G>A	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.603G>A	5.37:g.34811917G>A						RAI14_uc003jir.3_Silent_p.V201V|RAI14_uc010iur.3_Silent_p.V201V|RAI14_uc011coj.2_Silent_p.V201V|RAI14_uc010ius.1_Silent_p.V130V|RAI14_uc003jit.3_Silent_p.V201V|RAI14_uc011cok.2_Silent_p.V193V	p.V204V	NM_001145525	NP_001138997	Q9P0K7	RAI14_HUMAN			10	1151	+	all_lung(31;0.000191)		201					E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Silent	SNP	ENST00000265109.3	37	c.612G>A	CCDS34142.1																																																																																				0.378	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		7	52	0	0	0	1	0	7	52				
PTPRZ1	5803	broad.mit.edu	37	7	121651637	121651637	+	Missense_Mutation	SNP	C	C	T			TCGA-CE-A27D-01A-11D-A16O-08	TCGA-CE-A27D-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dad729-7b44-4b6d-b01f-cbcf57244b77	25cd0ba4-5250-45ac-96b5-e16b21a252f8	g.chr7:121651637C>T	ENST00000393386.2	+	12	2948	c.2537C>T	c.(2536-2538)aCt>aTt	p.T846I	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	846					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CCACAAGTTACTTCAGCTACC	0.473																																						uc003vjy.3																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(2536-2538)aCt>aTt		Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.							149.0	136.0	141.0					7																	121651637		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121651637C>T	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.2537C>T	7.37:g.121651637C>T	ENSP00000377047:p.Thr846Ile					PTPRZ1_uc011knt.2_Intron|PTPRZ1_uc003vjz.3_Intron	p.T846I	NM_002851	NP_002842	P23471	PTPRZ_HUMAN			11	2932	+			846					A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.2537C>T	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.702505	0.68501	.	.	ENSG00000106278	ENST00000393386	T	0.50277	0.75	5.71	5.71	0.89125	.	0.176747	0.40302	N	0.001131	T	0.62048	0.2396	M	0.67953	2.075	0.80722	D	1	P	0.50710	0.938	P	0.52267	0.694	T	0.64909	-0.6296	10	0.87932	D	0	.	19.8575	0.96767	0.0:1.0:0.0:0.0	.	846	P23471	PTPRZ_HUMAN	I	846	ENSP00000377047:T846I	ENSP00000377047:T846I	T	+	2	0	PTPRZ1	121438873	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	4.046000	0.57376	2.691000	0.91804	0.650000	0.86243	ACT		0.473	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		8	126	0	0	0	1	0	8	126				
C10orf12	26148	broad.mit.edu	37	10	98742786	98742786	+	Missense_Mutation	SNP	A	A	G			TCGA-CE-A27D-01A-11D-A16O-08	TCGA-CE-A27D-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dad729-7b44-4b6d-b01f-cbcf57244b77	25cd0ba4-5250-45ac-96b5-e16b21a252f8	g.chr10:98742786A>G	ENST00000286067.2	+	1	1746	c.1639A>G	c.(1639-1641)Aaa>Gaa	p.K547E		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	547										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AAAACGTTCAAAAAAAGAAGG	0.443																																						uc001kmv.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45						c.(1639-1641)Aaa>Gaa		Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA.							59.0	70.0	66.0					10																	98742786		2202	4300	6502	SO:0001583	missense	26148							g.chr10:98742786A>G	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.1639A>G	10.37:g.98742786A>G	ENSP00000286067:p.Lys547Glu						p.K547E	NM_015652	NP_056467	Q8N655	CJ012_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	0	1746	+		Colorectal(252;0.172)	547					Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	37	c.1639A>G	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	A	8.687	0.906564	0.17833	.	.	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.10960	2.82	5.82	3.47	0.39725	.	0.530281	0.17255	N	0.180981	T	0.09113	0.0225	L	0.34521	1.04	0.27948	N	0.937272	B	0.18461	0.028	B	0.22386	0.039	T	0.19943	-1.0290	10	0.59425	D	0.04	-10.3251	7.6678	0.28441	0.7888:0.1404:0.0708:0.0	.	547	Q8N655	CJ012_HUMAN	E	547;381	ENSP00000286067:K547E	ENSP00000286067:K547E	K	+	1	0	C10orf12	98732776	1.000000	0.71417	0.998000	0.56505	0.061000	0.15899	2.549000	0.45803	0.462000	0.27095	-0.488000	0.04728	AAA		0.443	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		8	54	0	0	0	1	0	8	54				
MGAT3	4248	broad.mit.edu	37	22	39883399	39883399	+	Missense_Mutation	SNP	G	G	A			TCGA-CE-A27D-01A-11D-A16O-08	TCGA-CE-A27D-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dad729-7b44-4b6d-b01f-cbcf57244b77	25cd0ba4-5250-45ac-96b5-e16b21a252f8	g.chr22:39883399G>A	ENST00000341184.6	+	2	262	c.47G>A	c.(46-48)gGc>gAc	p.G16D		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	16					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					TGTATGGCCGGCCTGTGCCTC	0.562																																						uc003axv.4																			0		p.A15V(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24						c.(46-48)gGc>gAc		Homo sapiens mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase (MGAT3), transcript variant 1, mRNA.							209.0	200.0	203.0					22																	39883399		2203	4300	6503	SO:0001583	missense	4248				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	g.chr22:39883399G>A	D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.47G>A	22.37:g.39883399G>A	ENSP00000345270:p.Gly16Asp					MGAT3_uc010gxy.3_Missense_Mutation_p.G16D	p.G16D	NM_002409	NP_002400	Q09327	MGAT3_HUMAN			1	286	+	Melanoma(58;0.04)		16					A6NGD0|Q14CK5|Q6IC49|Q9UH32	Missense_Mutation	SNP	ENST00000341184.6	37	c.47G>A	CCDS13994.2	.	.	.	.	.	.	.	.	.	.	G	23.4	4.417569	0.83449	.	.	ENSG00000128268	ENST00000341184;ENST00000429402;ENST00000418314	.	.	.	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.68641	0.3023	L	0.32530	0.975	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.72494	-0.4276	9	0.87932	D	0	.	18.6374	0.91383	0.0:0.0:1.0:0.0	.	16	Q09327	MGAT3_HUMAN	D	16;16;44	.	ENSP00000345270:G16D	G	+	2	0	MGAT3	38213345	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.210000	0.77924	2.397000	0.81536	0.467000	0.42956	GGC		0.562	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	NM_002409		4	212	0	0	0	1	0	4	212				
