#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ZBTB17	7709	broad.mit.edu	37	1	16274882	16274882	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr1:16274882C>A	ENST00000375743.4	-	3	341	c.109G>T	c.(109-111)Gct>Tct	p.A37S	ZBTB17_ENST00000537142.1_Intron|ZBTB17_ENST00000448462.2_Missense_Mutation_p.A37S|ZBTB17_ENST00000479282.1_5'UTR|ZBTB17_ENST00000375733.2_Missense_Mutation_p.A37S	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	37	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A37S(1)		breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GCTTTATGAGCCTTAAAGTGA	0.572																																						ENST00000375733.2																			1	Substitution - Missense(1)	p.A37S(1)	prostate(1)	breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15						c.(109-111)Gct>Tct		zinc finger and BTB domain containing 17							91.0	82.0	85.0					1																	16274882		2203	4300	6503	SO:0001583	missense	7709				negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:16274882C>A	U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12936	protein-coding gene	gene with protein product		604084	"""zinc finger protein 151 (pHZ-67)"", ""zinc finger protein 60"""	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.109G>T	1.37:g.16274882C>A	ENSP00000364895:p.Ala37Ser					ZBTB17_ENST00000375743.4_Missense_Mutation_p.A37S|ZBTB17_ENST00000537142.1_Intron|ZBTB17_ENST00000448462.2_Missense_Mutation_p.A37S|ZBTB17_ENST00000479282.1_5'UTR	p.A37S			Q13105	ZBT17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)	3	347	-		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	37			BTB.		A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Missense_Mutation	SNP	ENST00000375743.4	37	c.109G>T	CCDS165.1	.	.	.	.	.	.	.	.	.	.	C	36	5.632869	0.96682	.	.	ENSG00000116809	ENST00000375743;ENST00000375733;ENST00000444654;ENST00000448462	T;T;T	0.77750	1.33;1.33;-1.12	5.3	5.3	0.74995	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.91365	0.7276	M	0.93594	3.435	0.45172	D	0.998185	D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;1.0;0.995	D;D;D;D;D;D	0.97110	0.999;0.996;0.997;0.996;1.0;0.996	D	0.93281	0.6660	10	0.87932	D	0	.	18.3218	0.90241	0.0:1.0:0.0:0.0	.	37;37;37;37;37;37	B4DGV6;E7EPQ4;Q13105-2;B4DSM7;B2RCP2;Q13105	.;.;.;.;.;ZBT17_HUMAN	S	37	ENSP00000364895:A37S;ENSP00000364885:A37S;ENSP00000391002:A37S	ENSP00000364885:A37S	A	-	1	0	ZBTB17	16147469	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.666000	0.83877	2.649000	0.89929	0.561000	0.74099	GCT		0.572	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025998.1	NM_003443		7	106	7	106	---	---	---	---
TCF19	6941	broad.mit.edu	37	6	31127393	31127393	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr6:31127393G>T	ENST00000376257.3	+	2	901	c.147G>T	c.(145-147)gaG>gaT	p.E49D	CCHCR1_ENST00000480060.1_5'Flank|CCHCR1_ENST00000396263.2_5'Flank|CCHCR1_ENST00000451521.2_5'Flank|CCHCR1_ENST00000376266.5_5'Flank|TCF19_ENST00000376255.4_Missense_Mutation_p.E49D|CCHCR1_ENST00000396268.3_5'Flank	NM_007109.2	NP_009040.2	Q9Y242	TCF19_HUMAN	transcription factor 19	49	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				cell proliferation (GO:0008283)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E49D(1)		kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						CCCAGCAGGAGCCTGGCCTCA	0.662																																						ENST00000376257.3																			1	Substitution - Missense(1)	p.E49D(1)	prostate(1)	kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						c.(145-147)gaG>gaT		transcription factor 19							27.0	32.0	30.0					6																	31127393		1972	4139	6111	SO:0001583	missense	6941				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:31127393G>T	U25826	CCDS43446.1	6p21.3	2013-01-28	2009-02-05		ENSG00000137310	ENSG00000137310		"""Zinc fingers, PHD-type"""	11629	protein-coding gene	gene with protein product		600912				1868030, 8595903	Standard	NM_001077511		Approved	SC1	uc003nss.3	Q9Y242	OTTHUMG00000031274	ENST00000376257.3:c.147G>T	6.37:g.31127393G>T	ENSP00000365433:p.Glu49Asp					TCF19_ENST00000376255.4_Missense_Mutation_p.E49D	p.E49D	NM_007109.2	NP_009040.2	Q9Y242	TCF19_HUMAN			2	901	+			49			FHA.		A6NCT8|B0UY11|Q0EFA8|Q13176|Q15967|Q5SQ89|Q5STD6|Q5STF5|Q9BUM2|Q9UBH7	Missense_Mutation	SNP	ENST00000376257.3	37	c.147G>T	CCDS43446.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.491806	0.84962	.	.	ENSG00000137310	ENST00000376257;ENST00000376255	D;D	0.84589	-1.87;-1.87	5.71	2.94	0.34122	Forkhead-associated (FHA) domain (4);SMAD/FHA domain (1);	0.240514	0.41500	N	0.000869	T	0.52996	0.1769	N	0.12887	0.27	0.38749	D	0.954068	B	0.18310	0.027	B	0.20577	0.03	T	0.45991	-0.9223	10	0.40728	T	0.16	-22.617	5.8164	0.18495	0.1717:0.1588:0.6695:0.0	.	49	Q9Y242	TCF19_HUMAN	D	49	ENSP00000365433:E49D;ENSP00000365431:E49D	ENSP00000365431:E49D	E	+	3	2	TCF19	31235372	1.000000	0.71417	0.992000	0.48379	0.992000	0.81027	0.480000	0.22244	0.329000	0.23460	0.549000	0.68633	GAG		0.662	TCF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076595.2	NM_007109		3	46	3	46	---	---	---	---
ZNF212	7988	broad.mit.edu	37	7	148947631	148947631	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr7:148947631G>A	ENST00000335870.2	+	2	534	c.406G>A	c.(406-408)Gcc>Acc	p.A136T		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	136					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)	p.A136T(1)		endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			CAAGGGGGAGGCCCCCAAGGT	0.557																																						ENST00000335870.2																			1	Substitution - Missense(1)	p.A136T(1)	prostate(1)	endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9						c.(406-408)Gcc>Acc		zinc finger protein 212							57.0	75.0	69.0					7																	148947631		2196	4298	6494	SO:0001583	missense	7988				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding	g.chr7:148947631G>A	U38864	CCDS5896.1	7q36.1	2013-01-08			ENSG00000170260	ENSG00000170260		"""Zinc fingers, C2H2-type"", ""-"""	13004	protein-coding gene	gene with protein product		602386				9169157	Standard	NM_012256		Approved	C2H2-150	uc003wfp.3	Q9UDV6	OTTHUMG00000158968	ENST00000335870.2:c.406G>A	7.37:g.148947631G>A	ENSP00000338572:p.Ala136Thr						p.A136T	NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00171)		2	534	+	Melanoma(164;0.15)		136					B2RCF4|Q13396|Q8N664	Missense_Mutation	SNP	ENST00000335870.2	37	c.406G>A	CCDS5896.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.94|14.94	2.685624|2.685624	0.47991|0.47991	.|.	.|.	ENSG00000170260|ENSG00000170260	ENST00000335870|ENST00000481584	T|.	0.07444|.	3.19|.	5.7|5.7	3.63|3.63	0.41609|0.41609	Krueppel-associated box (1);|.	0.864979|.	0.09897|.	N|.	0.741495|.	T|T	0.31482|0.31482	0.0798|0.0798	L|L	0.29908|0.29908	0.895|0.895	0.21802|0.21802	N|N	0.999538|0.999538	B|.	0.09022|.	0.002|.	B|.	0.09377|.	0.004|.	T|T	0.19386|0.19386	-1.0307|-1.0307	10|5	0.11485|.	T|.	0.65|.	-0.8292|-0.8292	6.8136|6.8136	0.23819|0.23819	0.2543:0.0:0.7457:0.0|0.2543:0.0:0.7457:0.0	.|.	136|.	Q9UDV6|.	ZN212_HUMAN|.	T|D	136|33	ENSP00000338572:A136T|.	ENSP00000338572:A136T|.	A|G	+|+	1|2	0|0	ZNF212|ZNF212	148578564|148578564	0.001000|0.001000	0.12720|0.12720	0.857000|0.857000	0.33713|0.33713	0.997000|0.997000	0.91878|0.91878	0.413000|0.413000	0.21148|0.21148	0.551000|0.551000	0.29008|0.29008	0.563000|0.563000	0.77884|0.77884	GCC|GGC		0.557	ZNF212-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352710.1	NM_012256		14	212	14	212	---	---	---	---
INS-IGF2	723961	broad.mit.edu	37	11	2182081	2182081	+	Silent	SNP	G	G	A			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr11:2182081G>A	ENST00000397270.1	-	2	179	c.121C>T	c.(121-123)Cta>Tta	p.L41L	INS_ENST00000250971.3_Silent_p.L41L|INS_ENST00000381330.4_Silent_p.L41L|INS-IGF2_ENST00000481781.1_5'Flank|INS_ENST00000397262.1_Silent_p.L41L|INS_ENST00000512523.1_Silent_p.L41L	NM_001042376.2	NP_001035835.1	F8WCM5	INSR2_HUMAN	INS-IGF2 readthrough	41						extracellular region (GO:0005576)		p.L41L(2)		haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)		CCGCACACTAGGTAGAGAGCT	0.662																																						ENST00000397270.1																			2	Substitution - coding silent(2)	p.L41L(2)	prostate(2)	haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5						c.(121-123)Cta>Tta									63.0	64.0	64.0					11																	2182081		2200	4299	6499	SO:0001819	synonymous_variant	723961				glucose metabolic process	extracellular region	hormone activity	g.chr11:2182081G>A	DQ104205	CCDS41598.1	11p15.5	2011-03-23			ENSG00000129965	ENSG00000129965			33527	other	readthrough						16531418	Standard	NM_001042376		Approved		uc001lvm.3	F8WCM5	OTTHUMG00000166213	ENST00000397270.1:c.121C>T	11.37:g.2182081G>A						INS_ENST00000397262.1_Silent_p.L41L|INS_ENST00000250971.3_Silent_p.L41L|INS_ENST00000381330.4_Silent_p.L41L|INS_ENST00000512523.1_Silent_p.L41L	p.L41L	NM_001042376.2	NP_001035835.1	Q1WM24	Q1WM24_HUMAN	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)	2	179	-		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	41					Q1WM24	Silent	SNP	ENST00000397270.1	37	c.121C>T	CCDS41598.1																																																																																				0.662	INS-IGF2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000388404.1	NM_001042376.2		4	91	4	91	---	---	---	---
OR4D5	219875	broad.mit.edu	37	11	123810566	123810566	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr11:123810566G>T	ENST00000307033.2	+	1	317	c.243G>T	c.(241-243)atG>atT	p.M81I		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	81						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M81I(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CACCTAGGATGCTGGTTGACT	0.483																																						ENST00000307033.2																			1	Substitution - Missense(1)	p.M81I(1)	prostate(1)	autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(241-243)atG>atT		olfactory receptor, family 4, subfamily D, member 5							166.0	138.0	148.0					11																	123810566		2202	4299	6501	SO:0001583	missense	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123810566G>T	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"""GPCR / Class A : Olfactory receptors"""	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.243G>T	11.37:g.123810566G>T	ENSP00000305970:p.Met81Ile						p.M81I	NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	317	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	81					B9EGZ4|Q6IFE6	Missense_Mutation	SNP	ENST00000307033.2	37	c.243G>T	CCDS31699.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457525	0.63401	.	.	ENSG00000171014	ENST00000307033	T	0.05513	3.43	5.28	5.28	0.74379	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000015	T	0.11110	0.0271	M	0.70903	2.155	0.32225	N	0.574706	B	0.14438	0.01	B	0.09377	0.004	T	0.01464	-1.1348	10	0.66056	D	0.02	-21.7369	14.5707	0.68208	0.0:0.191:0.809:0.0	.	81	Q8NGN0	OR4D5_HUMAN	I	81	ENSP00000305970:M81I	ENSP00000305970:M81I	M	+	3	0	OR4D5	123315776	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	3.245000	0.51407	2.457000	0.83068	0.655000	0.94253	ATG		0.483	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		4	240	4	240	---	---	---	---
EML5	161436	broad.mit.edu	37	14	89083083	89083083	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr14:89083083C>T	ENST00000380664.5	-	40	5758	c.5759G>A	c.(5758-5760)tGt>tAt	p.C1920Y	EML5_ENST00000554922.1_Missense_Mutation_p.C1928Y|EML5_ENST00000352093.5_Missense_Mutation_p.C1882Y			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1920						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)	p.C1928Y(2)		breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TTTTTCTGGACATGGGAAGTC	0.348																																						ENST00000554922.1																			2	Substitution - Missense(2)	p.C1928Y(2)	prostate(2)	breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(5782-5784)tGt>tAt		echinoderm microtubule associated protein like 5							58.0	54.0	55.0					14																	89083083		1857	4091	5948	SO:0001583	missense	161436					cytoplasm|microtubule		g.chr14:89083083C>T	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.5759G>A	14.37:g.89083083C>T	ENSP00000370039:p.Cys1920Tyr					EML5_ENST00000352093.5_Missense_Mutation_p.C1882Y|EML5_ENST00000380664.5_Missense_Mutation_p.C1920Y	p.C1928Y	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN			42	6031	-			1920	K -> R (in Ref. 2; AAI50640).				B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	37	c.5783G>A	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.307942	0.81247	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.16597	2.33;2.33;2.33	5.26	5.26	0.73747	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.49525	0.1562	M	0.89414	3.03	0.80722	D	1	D	0.69078	0.997	D	0.66351	0.943	T	0.58999	-0.7536	10	0.87932	D	0	-13.8721	19.2291	0.93831	0.0:1.0:0.0:0.0	.	1920	Q05BV3	EMAL5_HUMAN	Y	1928;1882;1920	ENSP00000451998:C1928Y;ENSP00000298315:C1882Y;ENSP00000370039:C1920Y	ENSP00000298315:C1882Y	C	-	2	0	EML5	88152836	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.693000	0.68264	2.614000	0.88457	0.655000	0.94253	TGT		0.348	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			4	49	4	49	---	---	---	---
MKRN3	7681	broad.mit.edu	37	15	23812105	23812105	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr15:23812105G>T	ENST00000314520.3	+	1	1652	c.1176G>T	c.(1174-1176)aaG>aaT	p.K392N	MKRN3_ENST00000568252.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000564592.1_Missense_Mutation_p.K152N|MKRN3_ENST00000568945.1_3'UTR	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	392					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.K392N(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		AGCAATACAAGGAGGCAATGA	0.502																																						ENST00000314520.3																			1	Substitution - Missense(1)	p.K392N(1)	prostate(1)	breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(1174-1176)aaG>aaT		makorin ring finger protein 3							102.0	101.0	101.0					15																	23812105		2203	4300	6503	SO:0001583	missense	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23812105G>T	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.1176G>T	15.37:g.23812105G>T	ENSP00000313881:p.Lys392Asn					MKRN3_ENST00000564592.1_Missense_Mutation_p.K152N|MKRN3_ENST00000568945.1_3'UTR|MKRN3_ENST00000568252.1_Intron	p.K392N	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	1652	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	392						Missense_Mutation	SNP	ENST00000314520.3	37	c.1176G>T	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.311801	0.23821	.	.	ENSG00000179455	ENST00000314520	T	0.46451	0.87	4.01	0.117	0.14652	.	0.110120	0.64402	D	0.000013	T	0.55737	0.1939	M	0.85041	2.73	0.54753	D	0.999988	D	0.64830	0.994	P	0.57548	0.823	T	0.56589	-0.7954	10	0.66056	D	0.02	.	7.1947	0.25845	0.4833:0.0:0.5167:0.0	.	392	Q13064	MKRN3_HUMAN	N	392	ENSP00000313881:K392N	ENSP00000313881:K392N	K	+	3	2	MKRN3	21363198	1.000000	0.71417	0.955000	0.39395	0.093000	0.18481	0.971000	0.29396	0.031000	0.15407	-1.202000	0.01658	AAG		0.502	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		7	144	7	144	---	---	---	---
ABCA3	21	broad.mit.edu	37	16	2354107	2354107	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr16:2354107C>T	ENST00000301732.5	-	12	2030	c.1330G>A	c.(1330-1332)Gac>Aac	p.D444N	ABCA3_ENST00000382381.3_Missense_Mutation_p.D386N	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	444					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.D444N(1)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	AAGTCGTCGTCCACGTTGACG	0.632																																						ENST00000301732.5																			1	Substitution - Missense(1)	p.D444N(1)	prostate(1)	breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70						c.(1330-1332)Gac>Aac		ATP-binding cassette, sub-family A (ABC1), member 3							171.0	151.0	158.0					16																	2354107		2198	4300	6498	SO:0001583	missense	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2354107C>T	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.1330G>A	16.37:g.2354107C>T	ENSP00000301732:p.Asp444Asn					ABCA3_ENST00000382381.3_Missense_Mutation_p.D386N	p.D444N	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN			12	2030	-		Ovarian(90;0.17)	444					B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	c.1330G>A	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693608	0.48202	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.88975	-2.45	5.64	4.69	0.59074	.	0.156294	0.56097	D	0.000026	D	0.91663	0.7365	M	0.69358	2.11	0.80722	D	1	P;B;P	0.51240	0.943;0.005;0.943	P;B;P	0.57548	0.823;0.009;0.823	D	0.91416	0.5155	10	0.48119	T	0.1	.	12.2217	0.54437	0.0:0.919:0.0:0.081	.	444;448;444	A7MBM9;Q4LE27;Q99758	.;.;ABCA3_HUMAN	N	444;448	ENSP00000301732:D444N	ENSP00000301732:D444N	D	-	1	0	ABCA3	2294108	1.000000	0.71417	0.088000	0.20740	0.893000	0.52053	7.317000	0.79018	1.623000	0.50342	0.650000	0.86243	GAC		0.632	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		5	240	5	240	---	---	---	---
ZPBP2	124626	broad.mit.edu	37	17	38028691	38028691	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr17:38028691T>C	ENST00000348931.4	+	5	766	c.575T>C	c.(574-576)gTt>gCt	p.V192A	ZPBP2_ENST00000377940.3_Missense_Mutation_p.V170A|ZPBP2_ENST00000584588.1_Intron	NM_199321.2	NP_955353.1	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	192					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)		p.V192A(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGCCATTCTGTTGAAATTCCA	0.303																																						ENST00000377940.3																			1	Substitution - Missense(1)	p.V192A(1)	prostate(1)	kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(508-510)gTt>gCt		zona pellucida binding protein 2							73.0	66.0	68.0					17																	38028691		2202	4299	6501	SO:0001583	missense	124626				binding of sperm to zona pellucida	extracellular region		g.chr17:38028691T>C	BC043152	CCDS11352.1, CCDS11353.2	17q21.1	2013-01-11			ENSG00000186075	ENSG00000186075		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	20678	protein-coding gene	gene with protein product		608499					Standard	XM_005257031		Approved	ZPBPL, MGC41930	uc002hte.3	Q6X784	OTTHUMG00000133022	ENST00000348931.4:c.575T>C	17.37:g.38028691T>C	ENSP00000335384:p.Val192Ala					ZPBP2_ENST00000584588.1_Intron|ZPBP2_ENST00000348931.4_Missense_Mutation_p.V192A	p.V170A	NM_198844.2	NP_942141.2	Q6X784	ZPBP2_HUMAN	Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)		4	648	+	Colorectal(19;0.000442)		192					A8K8L8|Q6X783|Q86XL5	Missense_Mutation	SNP	ENST00000348931.4	37	c.509T>C	CCDS11352.1	.	.	.	.	.	.	.	.	.	.	T	10.83	1.461109	0.26248	.	.	ENSG00000186075	ENST00000348931;ENST00000377940	T;T	0.59638	0.25;0.25	5.48	5.48	0.80851	.	0.545013	0.16792	N	0.199346	T	0.69070	0.3070	M	0.72894	2.215	0.22305	N	0.999214	D;P	0.58268	0.982;0.951	P;P	0.54889	0.763;0.76	T	0.64063	-0.6495	10	0.51188	T	0.08	-15.1354	13.8112	0.63264	0.0:0.0:0.0:1.0	.	170;192	Q6X784-2;Q6X784	.;ZPBP2_HUMAN	A	192;170	ENSP00000335384:V192A;ENSP00000367174:V170A	ENSP00000335384:V192A	V	+	2	0	ZPBP2	35282217	1.000000	0.71417	0.985000	0.45067	0.665000	0.39181	4.703000	0.61824	2.075000	0.62263	0.377000	0.23210	GTT		0.303	ZPBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256609.2	NM_198844		3	126	3	126	---	---	---	---
