#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
TIE1	7075	broad.mit.edu	37	1	43779588	43779588	+	Silent	SNP	C	C	T			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr1:43779588C>T	ENST00000372476.3	+	14	2437	c.2358C>T	c.(2356-2358)atC>atT	p.I786I	TIE1_ENST00000433781.2_Silent_p.I431I|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	786					angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGGTGTGCATCCGCAGAAGCT	0.632																																						ENST00000372476.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(2356-2358)atC>atT		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							77.0	70.0	72.0					1																	43779588		2203	4300	6503	SO:0001819	synonymous_variant	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43779588C>T	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2358C>T	1.37:g.43779588C>T						TIE1_ENST00000433781.2_Silent_p.I431I|TIE1_ENST00000473014.1_3'UTR	p.I786I	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN			14	2437	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	786					B5A949|B5A950	Silent	SNP	ENST00000372476.3	37	c.2358C>T	CCDS482.1																																																																																				0.632	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		13	35	13	35	---	---	---	---
B4GALT2	8704	broad.mit.edu	37	1	44446882	44446882	+	Missense_Mutation	SNP	T	T	A			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr1:44446882T>A	ENST00000356836.6	+	2	840	c.50T>A	c.(49-51)cTc>cAc	p.L17H	B4GALT2_ENST00000434555.2_5'UTR|B4GALT2_ENST00000372324.1_Missense_Mutation_p.L17H|B4GALT2_ENST00000309519.7_Missense_Mutation_p.L46H	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	17					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	AAGGCTGTGCTCCTTCTCTGC	0.682																																						ENST00000356836.6																			0				endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(49-51)cTc>cAc		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	N-Acetyl-D-glucosamine(DB00141)						88.0	69.0	76.0					1																	44446882		2203	4300	6503	SO:0001583	missense	8704				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity	g.chr1:44446882T>A	AF038660	CCDS506.1, CCDS55596.1	1p34-p33	2013-02-19			ENSG00000117411	ENSG00000117411		"""Beta 4-glycosyltransferases"""	925	protein-coding gene	gene with protein product		604013				9405390, 9597550	Standard	NM_003780		Approved	beta4Gal-T2	uc010okl.2	O60909	OTTHUMG00000008296	ENST00000356836.6:c.50T>A	1.37:g.44446882T>A	ENSP00000349293:p.Leu17His					B4GALT2_ENST00000309519.7_Missense_Mutation_p.L46H|B4GALT2_ENST00000434555.2_5'UTR|B4GALT2_ENST00000372324.1_Missense_Mutation_p.L17H	p.L17H	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN			2	840	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	17					B3KTP0|B4DE14|D3DPY6|D3DPY7|O60511|Q4V9L9|Q5T4X5|Q5T4Y5|Q9BUP6|Q9NSY7	Missense_Mutation	SNP	ENST00000356836.6	37	c.50T>A	CCDS506.1	.	.	.	.	.	.	.	.	.	.	T	32	5.123854	0.94429	.	.	ENSG00000117411	ENST00000372324;ENST00000356836;ENST00000309519	T;T;T	0.52754	0.71;0.71;0.65	4.96	4.96	0.65561	.	0.000000	0.64402	D	0.000007	T	0.57330	0.2046	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.999;0.996	D;P	0.85130	0.997;0.819	T	0.62329	-0.6877	10	0.87932	D	0	-26.7008	14.6211	0.68584	0.0:0.0:0.0:1.0	.	46;17	B4DE14;O60909	.;B4GT2_HUMAN	H	17;17;46	ENSP00000361399:L17H;ENSP00000349293:L17H;ENSP00000310696:L46H	ENSP00000310696:L46H	L	+	2	0	B4GALT2	44219469	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.306000	0.78905	1.843000	0.53566	0.533000	0.62120	CTC		0.682	B4GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022840.1	NM_003780		15	39	15	39	---	---	---	---
GATAD2B	57459	broad.mit.edu	37	1	153790536	153790536	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr1:153790536G>A	ENST00000368655.4	-	5	952	c.709C>T	c.(709-711)Caa>Taa	p.Q237*		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	237					ATP-dependent chromatin remodeling (GO:0043044)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTCAAATTTTGAGGTTCAACC	0.493																																						ENST00000368655.4																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38						c.(709-711)Caa>Taa		GATA zinc finger domain containing 2B							149.0	154.0	153.0					1																	153790536		2203	4300	6503	SO:0001587	stop_gained	57459					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:153790536G>A	AF411836	CCDS1054.1	1q21.3	2013-01-25			ENSG00000143614	ENSG00000143614		"""GATA zinc finger domain containing"""	30778	protein-coding gene	gene with protein product	"""transcription repressor p66 beta component of the MeCP1 complex"""	614998				10574461, 11756549	Standard	NM_020699		Approved	P66beta	uc001fdb.4	Q8WXI9	OTTHUMG00000037162	ENST00000368655.4:c.709C>T	1.37:g.153790536G>A	ENSP00000357644:p.Gln237*						p.Q237*	NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		5	952	-	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		237					D3DUZ2|Q5VUR2|Q7LG68|Q9ULS0	Nonsense_Mutation	SNP	ENST00000368655.4	37	c.709C>T	CCDS1054.1	.	.	.	.	.	.	.	.	.	.	G	38	6.694766	0.97768	.	.	ENSG00000143614	ENST00000368655	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-13.2028	18.1254	0.89584	0.0:0.0:1.0:0.0	.	.	.	.	X	237	.	ENSP00000357644:Q237X	Q	-	1	0	GATAD2B	152057160	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.276000	0.89894	2.585000	0.87301	0.407000	0.27541	CAA		0.493	GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090305.1	NM_020699		45	149	45	149	---	---	---	---
HDGF	3068	broad.mit.edu	37	1	156714094	156714094	+	Missense_Mutation	SNP	T	T	C			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr1:156714094T>C	ENST00000357325.5	-	4	664	c.350A>G	c.(349-351)gAa>gGa	p.E117G	HDGF_ENST00000537739.1_Missense_Mutation_p.E117G|HDGF_ENST00000368209.5_Missense_Mutation_p.E110G|HDGF_ENST00000416666.2_Missense_Mutation_p.E85G|HDGF_ENST00000465180.1_5'UTR|HDGF_ENST00000368206.5_Missense_Mutation_p.E133G	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor	117	Glu-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription corepressor binding (GO:0001222)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		CTCTGCAGCTTCGGGCTCTGG	0.592																																						ENST00000357325.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						c.(349-351)gAa>gGa		hepatoma-derived growth factor							390.0	358.0	369.0					1																	156714094		2203	4300	6503	SO:0001583	missense	3068				cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	DNA binding|growth factor activity|heparin binding|nucleotide binding	g.chr1:156714094T>C	D16431	CCDS1156.1, CCDS44247.1, CCDS44248.1	1q23.1	2013-10-14	2010-03-19		ENSG00000143321	ENSG00000143321			4856	protein-coding gene	gene with protein product	"""high-mobility group protein 1-like"""	600339	"""hepatoma-derived growth factor (high-mobility group protein 1-like)"""			8833162	Standard	NM_004494		Approved	HMG1L2	uc001fpy.4	P51858	OTTHUMG00000041295	ENST00000357325.5:c.350A>G	1.37:g.156714094T>C	ENSP00000349878:p.Glu117Gly					HDGF_ENST00000465180.1_5'UTR|HDGF_ENST00000416666.2_Missense_Mutation_p.E85G|HDGF_ENST00000368206.5_Missense_Mutation_p.E133G|HDGF_ENST00000368209.5_Missense_Mutation_p.E110G|HDGF_ENST00000537739.1_Missense_Mutation_p.E117G	p.E117G	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN		Colorectal(1306;0.018)	4	664	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)	117			Glu-rich.		B3KU21|D3DVC9|Q5SZ07|Q5SZ08|Q5SZ09	Missense_Mutation	SNP	ENST00000357325.5	37	c.350A>G	CCDS1156.1	.	.	.	.	.	.	.	.	.	.	T	7.818	0.717237	0.15372	.	.	ENSG00000143321	ENST00000357325;ENST00000368209;ENST00000537739;ENST00000416666;ENST00000368206;ENST00000406805	T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58	5.01	5.01	0.66863	.	0.454558	0.20985	U	0.082142	T	0.56247	0.1972	M	0.65498	2.005	0.20764	N	0.999859	B;P;B;B;B	0.49090	0.003;0.919;0.421;0.003;0.029	B;B;B;B;B	0.42692	0.002;0.395;0.154;0.001;0.018	T	0.54029	-0.8354	10	0.37606	T	0.19	-9.3477	12.7088	0.57078	0.0:0.0:0.0:1.0	.	92;117;133;110;117	B7Z958;B2RDE8;Q5SZ07;Q5SZ08;P51858	.;.;.;.;HDGF_HUMAN	G	117;110;117;85;133;140	ENSP00000349878:E117G;ENSP00000357192:E110G;ENSP00000443120:E117G;ENSP00000416752:E85G;ENSP00000357189:E133G	ENSP00000349878:E117G	E	-	2	0	HDGF	154980718	0.941000	0.31946	0.094000	0.20943	0.300000	0.27592	2.885000	0.48570	1.889000	0.54706	0.369000	0.22263	GAA		0.592	HDGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098946.1	NM_004494		25	372	25	372	---	---	---	---
BRINP3	339479	broad.mit.edu	37	1	190067681	190067681	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr1:190067681C>T	ENST00000367462.3	-	8	1999	c.1768G>A	c.(1768-1770)Gaa>Aaa	p.E590K	BRINP3_ENST00000534846.1_Missense_Mutation_p.E488K	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	590					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											AAGCTGTTTTCATTCACAGGC	0.458																																						ENST00000367462.3																			0											c.(1768-1770)Gaa>Aaa		bone morphogenetic protein/retinoic acid inducible neural-specific 3							144.0	148.0	147.0					1																	190067681		2203	4300	6503	SO:0001583	missense	339479							g.chr1:190067681C>T	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1768G>A	1.37:g.190067681C>T	ENSP00000356432:p.Glu590Lys					BRINP3_ENST00000534846.1_Missense_Mutation_p.E488K	p.E590K	NM_199051.1	NP_950252.1					8	1999	-			590					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.1768G>A	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.335742	0.81801	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.21543	2.27;2.0	5.81	5.81	0.92471	.	0.105213	0.64402	D	0.000005	T	0.46658	0.1404	M	0.66939	2.045	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.73708	0.981;0.956	T	0.36359	-0.9751	10	0.87932	D	0	.	17.5652	0.87918	0.0:1.0:0.0:0.0	.	488;590	B7Z260;Q76B58	.;FAM5C_HUMAN	K	590;488	ENSP00000356432:E590K;ENSP00000438022:E488K	ENSP00000356432:E590K	E	-	1	0	FAM5C	188334304	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.968000	0.56809	2.750000	0.94351	0.585000	0.79938	GAA		0.458	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		41	130	41	130	---	---	---	---
MED12L	116931	broad.mit.edu	37	3	151075043	151075043	+	Missense_Mutation	SNP	A	A	C			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr3:151075043A>C	ENST00000474524.1	+	18	2637	c.2599A>C	c.(2599-2601)Aaa>Caa	p.K867Q	MED12L_ENST00000273432.4_Missense_Mutation_p.K727Q|MED12L_ENST00000491549.1_3'UTR|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	867						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACTGCTCCTAAAATCCTCCAG	0.423																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(2599-2601)Aaa>Caa		mediator complex subunit 12-like							95.0	84.0	88.0					3																	151075043		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151075043A>C	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.2599A>C	3.37:g.151075043A>C	ENSP00000417235:p.Lys867Gln					P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000491549.1_3'UTR|MED12L_ENST00000273432.4_Missense_Mutation_p.K727Q	p.K867Q	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		18	2637	+			867					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.2599A>C	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	A	28.6	4.936818	0.92458	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	D;D	0.82255	-1.59;-1.59	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.88503	0.6454	L	0.52759	1.655	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.78314	0.979;0.991;0.987	D	0.89687	0.3895	10	0.87932	D	0	-26.9706	15.2053	0.73175	1.0:0.0:0.0:0.0	.	727;867;867	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	Q	867;727	ENSP00000417235:K867Q;ENSP00000273432:K727Q	ENSP00000273432:K727Q	K	+	1	0	MED12L	152557733	1.000000	0.71417	0.960000	0.40013	0.998000	0.95712	8.291000	0.89927	2.113000	0.64589	0.533000	0.62120	AAA		0.423	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		14	71	14	71	---	---	---	---
CEP135	9662	broad.mit.edu	37	4	56886920	56886920	+	Silent	SNP	G	G	A			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr4:56886920G>A	ENST00000257287.4	+	24	3418	c.3294G>A	c.(3292-3294)agG>agA	p.R1098R		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	1098					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					CTCTGAAAAGGCAGATCTCAA	0.323																																						ENST00000257287.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50						c.(3292-3294)agG>agA		centrosomal protein 135kDa							138.0	145.0	143.0					4																	56886920		2203	4300	6503	SO:0001819	synonymous_variant	9662				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	g.chr4:56886920G>A	AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.3294G>A	4.37:g.56886920G>A							p.R1098R	NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN			24	3418	+	Glioma(25;0.08)|all_neural(26;0.101)		1098					B2RMY0|O75130|Q58F25|Q9H8H7	Silent	SNP	ENST00000257287.4	37	c.3294G>A	CCDS33986.1																																																																																				0.323	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		14	123	14	123	---	---	---	---
CFAP97	57587	broad.mit.edu	37	4	186111652	186111652	+	Silent	SNP	C	C	T			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr4:186111652C>T	ENST00000458385.2	-	2	818	c.699G>A	c.(697-699)caG>caA	p.Q233Q	KIAA1430_ENST00000514798.1_Silent_p.Q233Q|KIAA1430_ENST00000296775.6_Silent_p.Q233Q	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		233	Ser-rich.									endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		TACTTGAAGGCTGTGTTTCTG	0.428																																						ENST00000458385.2																			0				endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11						c.(697-699)caG>caA		KIAA1430							155.0	144.0	148.0					4																	186111652		1924	4144	6068	SO:0001819	synonymous_variant	57587							g.chr4:186111652C>T																												ENST00000458385.2:c.699G>A	4.37:g.186111652C>T						KIAA1430_ENST00000514798.1_Silent_p.Q233Q|KIAA1430_ENST00000296775.6_Silent_p.Q233Q	p.Q233Q	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)	2	818	-		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	233			Ser-rich.		B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45	Silent	SNP	ENST00000458385.2	37	c.699G>A	CCDS47168.1																																																																																				0.428	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360717.2			4	39	4	39	---	---	---	---
TBXAS1	6916	broad.mit.edu	37	7	139572059	139572059	+	Missense_Mutation	SNP	C	C	A			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr7:139572059C>A	ENST00000455353.1	+	2	252	c.115C>A	c.(115-117)Ctg>Atg	p.L39M	TBXAS1_ENST00000458722.1_Missense_Mutation_p.L39M|TBXAS1_ENST00000462275.1_Intron|TBXAS1_ENST00000436047.2_Missense_Mutation_p.L40M|TBXAS1_ENST00000539806.1_Missense_Mutation_p.L40M|TBXAS1_ENST00000411653.1_Missense_Mutation_p.L39M|TBXAS1_ENST00000425687.1_5'UTR|TBXAS1_ENST00000416849.2_Missense_Mutation_p.L40M|TBXAS1_ENST00000448866.1_Missense_Mutation_p.L39M|TBXAS1_ENST00000336425.5_Missense_Mutation_p.L39M|TBXAS1_ENST00000414508.2_Missense_Mutation_p.L40M|TBXAS1_ENST00000263552.6_Missense_Mutation_p.L40M			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	39					arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|thromboxane-A synthase activity (GO:0004796)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	ATTCTCAAGACTGGAGAAGTT	0.443																																						ENST00000263552.6																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(118-120)Ctg>Atg		thromboxane A synthase 1 (platelet)							166.0	146.0	153.0					7																	139572059		2203	4300	6503	SO:0001583	missense	6916				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity	g.chr7:139572059C>A	L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"""Cytochrome P450s"""	11609	protein-coding gene	gene with protein product	"""cytochrome P450, family 5, subfamily A, polypeptide 1"""	274180	"""thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"""			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000455353.1:c.115C>A	7.37:g.139572059C>A	ENSP00000391567:p.Leu39Met					TBXAS1_ENST00000336425.5_Missense_Mutation_p.L39M|TBXAS1_ENST00000455353.1_Missense_Mutation_p.L39M|TBXAS1_ENST00000411653.1_Missense_Mutation_p.L39M|TBXAS1_ENST00000448866.1_Missense_Mutation_p.L39M|TBXAS1_ENST00000414508.2_Missense_Mutation_p.L40M|TBXAS1_ENST00000462275.1_Intron|TBXAS1_ENST00000539806.1_Missense_Mutation_p.L40M|TBXAS1_ENST00000436047.2_Missense_Mutation_p.L40M|TBXAS1_ENST00000458722.1_Missense_Mutation_p.L39M|TBXAS1_ENST00000416849.2_Missense_Mutation_p.L40M|TBXAS1_ENST00000425687.1_5'UTR	p.L40M	NM_001130966.2	NP_001124438	P24557	THAS_HUMAN			6	656	+	Melanoma(164;0.0142)		39					B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Missense_Mutation	SNP	ENST00000455353.1	37	c.118C>A		.	.	.	.	.	.	.	.	.	.	C	17.13	3.311593	0.60414	.	.	ENSG00000059377	ENST00000263552;ENST00000438104;ENST00000336425;ENST00000416849;ENST00000436047;ENST00000414508;ENST00000448866;ENST00000455353;ENST00000458722;ENST00000411653;ENST00000539806	T;T;T;T;T;T;T;T;T;T;T	0.06849	3.25;3.25;3.25;3.25;3.25;3.25;3.25;3.25;3.25;3.25;3.25	4.85	3.03	0.35002	.	0.000000	0.64402	D	0.000004	T	0.13030	0.0316	N	0.19112	0.55	0.41973	D	0.990764	P;D;P;P;P	0.76494	0.945;0.999;0.869;0.858;0.858	P;D;P;P;P	0.68192	0.709;0.956;0.461;0.493;0.493	T	0.04041	-1.0982	10	0.72032	D	0.01	.	8.9005	0.35493	0.0:0.8201:0.0:0.1799	.	40;40;40;40;39	B7Z6W1;E7EP08;E7EMU9;Q53F23;P24557	.;.;.;.;THAS_HUMAN	M	40;39;39;40;40;40;39;39;39;39;40	ENSP00000263552:L40M;ENSP00000388612:L39M;ENSP00000338087:L39M;ENSP00000389414:L40M;ENSP00000392361:L40M;ENSP00000392702:L40M;ENSP00000402536:L39M;ENSP00000391567:L39M;ENSP00000411274:L39M;ENSP00000411326:L39M;ENSP00000444626:L40M	ENSP00000263552:L40M	L	+	1	2	TBXAS1	139218528	0.975000	0.34042	0.963000	0.40424	0.955000	0.61496	2.026000	0.41069	0.568000	0.29311	0.557000	0.71058	CTG		0.443	TBXAS1-008	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000348380.1			39	161	39	161	---	---	---	---
GTPBP4	23560	broad.mit.edu	37	10	1044996	1044996	+	Silent	SNP	G	G	A			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr10:1044996G>A	ENST00000360803.4	+	6	697	c.615G>A	c.(613-615)ctG>ctA	p.L205L	GTPBP4_ENST00000491635.1_3'UTR|GTPBP4_ENST00000545048.1_Silent_p.L158L|GTPBP4_ENST00000538293.1_Silent_p.L89L	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	205	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of collagen binding (GO:0033342)|negative regulation of DNA replication (GO:0008156)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein stabilization (GO:0050821)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		CCAAGTCTCTGTTTGTTGGGC	0.413																																						ENST00000360803.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21						c.(613-615)ctG>ctA		GTP binding protein 4							229.0	181.0	197.0					10																	1044996		2203	4300	6503	SO:0001819	synonymous_variant	23560				negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	g.chr10:1044996G>A	AK001548	CCDS31132.1	10p15-p14	2007-07-27			ENSG00000107937	ENSG00000107937			21535	protein-coding gene	gene with protein product	"""G protein-binding protein CRFG"", "" GTP-binding protein"""					11316846	Standard	NM_012341		Approved	CRFG, NGB, FLJ10690, FLJ10686, NOG1	uc001ift.3	Q9BZE4	OTTHUMG00000017538	ENST00000360803.4:c.615G>A	10.37:g.1044996G>A						GTPBP4_ENST00000538293.1_Silent_p.L89L|GTPBP4_ENST00000545048.1_Silent_p.L158L|GTPBP4_ENST00000491635.1_3'UTR	p.L205L	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)	6	697	+		all_epithelial(10;0.107)|Colorectal(49;0.14)	205					B3KMC5|B4DY13|B7Z7A3|O95446|Q5T3R8|Q9NVJ8	Silent	SNP	ENST00000360803.4	37	c.615G>A	CCDS31132.1																																																																																				0.413	GTPBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046412.1	NM_012341		11	26	11	26	---	---	---	---
ANK3	288	broad.mit.edu	37	10	61830119	61830119	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr10:61830119C>T	ENST00000280772.2	-	37	10711	c.10520G>A	c.(10519-10521)gGc>gAc	p.G3507D	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3507					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.G3507V(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AGGATGTCTGCCTTCCAGTGT	0.428																																						ENST00000280772.2																			1	Substitution - Missense(1)	p.G3507V(1)	liver(1)	NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(10519-10521)gGc>gAc		ankyrin 3, node of Ranvier (ankyrin G)							89.0	88.0	89.0					10																	61830119		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61830119C>T	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.10520G>A	10.37:g.61830119C>T	ENSP00000280772:p.Gly3507Asp					ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	p.G3507D	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	10711	-								B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.10520G>A	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	19.22	3.785682	0.70337	.	.	ENSG00000151150	ENST00000280772	T	0.26223	1.75	5.77	5.77	0.91146	.	0.000000	0.42964	D	0.000623	T	0.47229	0.1434	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.14337	-1.0476	10	0.40728	T	0.16	.	19.9837	0.97340	0.0:1.0:0.0:0.0	.	3507	Q12955	ANK3_HUMAN	D	3507	ENSP00000280772:G3507D	ENSP00000280772:G3507D	G	-	2	0	ANK3	61500125	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.631000	0.61304	2.723000	0.93209	0.655000	0.94253	GGC		0.428	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		21	97	21	97	---	---	---	---
CCDC87	55231	broad.mit.edu	37	11	66359398	66359398	+	Missense_Mutation	SNP	C	C	G	rs142496256		TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr11:66359398C>G	ENST00000333861.3	-	1	1156	c.1089G>C	c.(1087-1089)aaG>aaC	p.K363N	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	363					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CCAACTTCATCTTCTTTATCA	0.597																																						ENST00000333861.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(1087-1089)aaG>aaC		coiled-coil domain containing 87							51.0	55.0	54.0					11																	66359398		2200	4295	6495	SO:0001583	missense	55231							g.chr11:66359398C>G	BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.1089G>C	11.37:g.66359398C>G	ENSP00000328487:p.Lys363Asn						p.K363N	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN			1	1156	-			363					Q8NE76	Missense_Mutation	SNP	ENST00000333861.3	37	c.1089G>C	CCDS8145.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.840087	0.00573	.	.	ENSG00000182791	ENST00000333861	T	0.29917	1.55	5.03	-2.33	0.06724	.	1.397050	0.04801	N	0.433398	T	0.06962	0.0177	N	0.00347	-1.61	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18808	-1.0325	10	0.15066	T	0.55	.	3.6258	0.08112	0.0805:0.3663:0.2453:0.3079	.	363	Q9NVE4	CCD87_HUMAN	N	363	ENSP00000328487:K363N	ENSP00000328487:K363N	K	-	3	2	CCDC87	66115974	0.000000	0.05858	0.022000	0.16811	0.115000	0.19883	-0.276000	0.08514	-0.611000	0.05709	-0.256000	0.11100	AAG		0.597	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1	NM_018219		7	33	7	33	---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	13717134	13717134	+	Missense_Mutation	SNP	G	G	A	rs202109019		TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr12:13717134G>A	ENST00000609686.1	-	13	3247	c.3038C>T	c.(3037-3039)aCc>aTc	p.T1013I		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1013					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCTGGACTGGGTGGTGAAGGG	0.577																																						ENST00000609686.1																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(3037-3039)aCc>aTc		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						116.0	90.0	99.0					12																	13717134		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13717134G>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3038C>T	12.37:g.13717134G>A	ENSP00000477455:p.Thr1013Ile						p.T1013I	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			13	3247	-								Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.3038C>T	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.708117	0.48412	.	.	ENSG00000150086	ENST00000279593	T	0.12147	2.71	5.5	5.5	0.81552	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.108992	0.64402	D	0.000006	T	0.20659	0.0497	L	0.50333	1.59	0.58432	D	0.999999	B	0.29590	0.25	B	0.35813	0.211	T	0.01961	-1.1239	10	0.56958	D	0.05	.	19.39	0.94576	0.0:0.0:1.0:0.0	.	1013	Q13224	NMDE2_HUMAN	I	1013	ENSP00000279593:T1013I	ENSP00000279593:T1013I	T	-	2	0	GRIN2B	13608401	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.789000	0.99068	2.596000	0.87737	0.655000	0.94253	ACC		0.577	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			14	29	14	29	---	---	---	---
ERBB3	2065	broad.mit.edu	37	12	56482346	56482346	+	Missense_Mutation	SNP	A	A	T			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr12:56482346A>T	ENST00000267101.3	+	8	1334	c.894A>T	c.(892-894)caA>caT	p.Q298H	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.Q239H	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	298					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TGGTGGATCAAACATCCTGTG	0.507																																						ENST00000267101.3																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(892-894)caA>caT		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3							215.0	207.0	210.0					12																	56482346		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56482346A>T	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.894A>T	12.37:g.56482346A>T	ENSP00000267101:p.Gln298His					ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.Q239H	p.Q298H	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		8	1334	+			298					A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.894A>T	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	A	0.612	-0.824668	0.02755	.	.	ENSG00000065361	ENST00000267101;ENST00000394099;ENST00000415288	T;T	0.63913	-0.07;-0.07	5.2	-8.92	0.00774	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.200442	0.34291	N	0.004096	T	0.28599	0.0708	N	0.04508	-0.205	0.45307	D	0.998305	B	0.06786	0.001	B	0.09377	0.004	T	0.11867	-1.0570	10	0.19147	T	0.46	.	12.6724	0.56874	0.7505:0.0913:0.1582:0.0	.	298	P21860	ERBB3_HUMAN	H	298;298;239	ENSP00000267101:Q298H;ENSP00000408340:Q239H	ENSP00000267101:Q298H	Q	+	3	2	ERBB3	54768613	0.000000	0.05858	0.057000	0.19452	0.282000	0.26991	-2.247000	0.01190	-1.497000	0.01826	-0.468000	0.05107	CAA		0.507	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			19	156	19	156	---	---	---	---
TUBGCP4	27229	broad.mit.edu	37	15	43696671	43696671	+	Missense_Mutation	SNP	A	A	G			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr15:43696671A>G	ENST00000260383.7	+	17	2166	c.1912A>G	c.(1912-1914)Atc>Gtc	p.I638V	TUBGCP4_ENST00000399460.3_3'UTR|TUBGCP4_ENST00000564079.1_Missense_Mutation_p.I637V			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	638					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		GAATCATCAGATCAACTCAGA	0.478																																						ENST00000564079.1																			0				breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21						c.(1909-1911)Atc>Gtc		tubulin, gamma complex associated protein 4							100.0	93.0	95.0					15																	43696671		1894	4113	6007	SO:0001583	missense	27229				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton	g.chr15:43696671A>G	AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.1912A>G	15.37:g.43696671A>G	ENSP00000260383:p.Ile638Val					TUBGCP4_ENST00000399460.3_3'UTR|TUBGCP4_ENST00000260383.7_Missense_Mutation_p.I638V	p.I637V	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN		GBM - Glioblastoma multiforme(94;3.53e-07)	17	2149	+		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)	638					B3KNK6|Q969X3|Q9NVF0	Missense_Mutation	SNP	ENST00000260383.7	37	c.1909A>G		.	.	.	.	.	.	.	.	.	.	A	16.90	3.250393	0.59212	.	.	ENSG00000137822	ENST00000260383	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.41166	0.1147	N	0.08118	0	0.80722	D	1	B;B	0.18863	0.018;0.031	B;B	0.30251	0.053;0.113	T	0.30966	-0.9960	9	0.22706	T	0.39	-16.3089	15.4929	0.75624	1.0:0.0:0.0:0.0	.	638;637	Q9UGJ1;Q9UGJ1-2	GCP4_HUMAN;.	V	637	.	ENSP00000260383:I637V	I	+	1	0	TUBGCP4	41483963	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.057000	0.93889	2.308000	0.77769	0.533000	0.62120	ATC		0.478	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000432970.1	NM_014444		3	51	3	51	---	---	---	---
KRT9	3857	broad.mit.edu	37	17	39724878	39724878	+	Missense_Mutation	SNP	T	T	C			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr17:39724878T>C	ENST00000246662.4	-	5	1117	c.1052A>G	c.(1051-1053)cAg>cGg	p.Q351R	KRT9_ENST00000588431.1_Missense_Mutation_p.Q118R	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	351	Coil 2.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				ATGCTCGATCTGGGTTATCTG	0.557																																						ENST00000246662.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1051-1053)cAg>cGg		keratin 9							270.0	254.0	259.0					17																	39724878		2203	4300	6503	SO:0001583	missense	3857				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton	g.chr17:39724878T>C		CCDS32654.1	17q21.2	2013-06-20	2008-08-01		ENSG00000171403	ENSG00000171403		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6447	protein-coding gene	gene with protein product	"""cytokeratin 9"", ""type I cytoskeletal 9"", ""epidermolytic palmoplantar keratoderma"""	607606				7512862, 16831889	Standard	NM_000226		Approved	EPPK, K9, CK-9	uc002hxe.4	P35527	OTTHUMG00000133599	ENST00000246662.4:c.1052A>G	17.37:g.39724878T>C	ENSP00000246662:p.Gln351Arg					KRT9_ENST00000588431.1_Missense_Mutation_p.Q118R	p.Q351R	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN			5	1117	-		Breast(137;0.000307)	351			Coil 2.|Rod.		O00109|Q0IJ47|Q14665	Missense_Mutation	SNP	ENST00000246662.4	37	c.1052A>G	CCDS32654.1	.	.	.	.	.	.	.	.	.	.	T	19.99	3.929208	0.73327	.	.	ENSG00000171403	ENST00000246662	D	0.97752	-4.52	5.15	4.07	0.47477	Filament (1);	0.284083	0.19070	N	0.123524	D	0.95098	0.8412	L	0.57536	1.79	0.09310	N	1	P	0.39480	0.675	B	0.32465	0.146	D	0.90054	0.4151	10	0.87932	D	0	.	8.9283	0.35655	0.0:0.0855:0.0:0.9145	.	351	P35527	K1C9_HUMAN	R	351	ENSP00000246662:Q351R	ENSP00000246662:Q351R	Q	-	2	0	KRT9	36978404	0.154000	0.22792	0.007000	0.13788	0.751000	0.42716	3.413000	0.52686	0.779000	0.33543	0.459000	0.35465	CAG		0.557	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257707.1	NM_000226		62	182	62	182	---	---	---	---
ZNF285	26974	broad.mit.edu	37	19	44891645	44891645	+	Silent	SNP	G	G	A			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr19:44891645G>A	ENST00000330997.4	-	4	826	c.762C>T	c.(760-762)caC>caT	p.H254H	ZNF285_ENST00000544719.2_Silent_p.H254H|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Silent_p.H261H	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	254					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TTTCTCCTAGGTGAGTGCTGT	0.433																																						ENST00000330997.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(760-762)caC>caT		zinc finger protein 285							93.0	98.0	96.0					19																	44891645		2203	4298	6501	SO:0001819	synonymous_variant	26974							g.chr19:44891645G>A	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.762C>T	19.37:g.44891645G>A						ZNF285_ENST00000591679.1_Silent_p.H261H|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Silent_p.H254H	p.H254H	NM_152354.3	NP_689567.3					4	826	-								Q17RJ3|Q6B0A8|Q6ISR5	Silent	SNP	ENST00000330997.4	37	c.762C>T	CCDS12638.1																																																																																				0.433	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		9	114	9	114	---	---	---	---
ZNF182	7569	broad.mit.edu	37	X	47836948	47836948	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chrX:47836948C>T	ENST00000396965.1	-	7	888	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	ZNF182_ENST00000376943.3_Missense_Mutation_p.E161K|ZNF182_ENST00000305127.6_Missense_Mutation_p.E180K	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	180					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TATTTATTTTCTGCAGAACTT	0.333																																						ENST00000396965.1																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						c.(538-540)Gaa>Aaa		zinc finger protein 182							61.0	56.0	57.0					X																	47836948		2203	4299	6502	SO:0001583	missense	7569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47836948C>T	AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"""Zinc fingers, C2H2-type"", ""-"""	13001	protein-coding gene	gene with protein product		314993	"""zinc finger protein 182 (HHZ150)"", ""zinc finger protein 21 (KOX 14)"""	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.538G>A	X.37:g.47836948C>T	ENSP00000380165:p.Glu180Lys					ZNF182_ENST00000305127.6_Missense_Mutation_p.E180K|ZNF182_ENST00000376943.3_Missense_Mutation_p.E161K	p.E180K	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN			7	888	-			180					A2IDD7|Q3KP67|Q96QH7	Missense_Mutation	SNP	ENST00000396965.1	37	c.538G>A	CCDS35236.1	.	.	.	.	.	.	.	.	.	.	C	2.570	-0.299769	0.05532	.	.	ENSG00000147118	ENST00000376943;ENST00000396965;ENST00000305127	T;T;T	0.06449	3.3;3.31;3.31	3.87	3.87	0.44632	.	.	.	.	.	T	0.03305	0.0096	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.19583	0.009;0.037;0.037	B;B;B	0.19946	0.027;0.021;0.021	T	0.36016	-0.9765	9	0.42905	T	0.14	.	8.6145	0.33822	0.0:0.77:0.23:0.0	.	160;161;180	B4DRM0;Q96QH7;P17025	.;.;ZN182_HUMAN	K	161;180;180	ENSP00000366142:E161K;ENSP00000380165:E180K;ENSP00000306351:E180K	ENSP00000306351:E180K	E	-	1	0	ZNF182	47721892	0.108000	0.22018	0.516000	0.27786	0.374000	0.29953	1.432000	0.34936	2.177000	0.69029	0.594000	0.82650	GAA		0.333	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277055.1	NM_006962		15	15	15	15	---	---	---	---
IGSF1	3547	broad.mit.edu	37	X	130419246	130419246	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chrX:130419246C>A	ENST00000361420.3	-	5	653	c.574G>T	c.(574-576)Gag>Tag	p.E192*	IGSF1_ENST00000370910.1_Nonsense_Mutation_p.E183*|IGSF1_ENST00000370901.4_Nonsense_Mutation_p.E192*|IGSF1_ENST00000370900.1_Nonsense_Mutation_p.E192*|IGSF1_ENST00000370904.1_Nonsense_Mutation_p.E183*|IGSF1_ENST00000370903.3_Nonsense_Mutation_p.E192*			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	192	Ig-like C2-type 2.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CCTTCATCCTCAGGTGTCAGG	0.517																																						ENST00000370904.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						c.(547-549)Gag>Tag		immunoglobulin superfamily, member 1							190.0	135.0	154.0					X																	130419246		2203	4300	6503	SO:0001587	stop_gained	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130419246C>A	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.574G>T	X.37:g.130419246C>A	ENSP00000355010:p.Glu192*					IGSF1_ENST00000370901.4_Nonsense_Mutation_p.E192*|IGSF1_ENST00000370903.3_Nonsense_Mutation_p.E192*|IGSF1_ENST00000361420.3_Nonsense_Mutation_p.E192*|IGSF1_ENST00000370900.1_Nonsense_Mutation_p.E192*|IGSF1_ENST00000370910.1_Nonsense_Mutation_p.E183*	p.E183*			Q8N6C5	IGSF1_HUMAN			11	1457	-			192			Ig-like C2-type 2.		B5MEG2|H9KV64|O15070|Q9NTC8	Nonsense_Mutation	SNP	ENST00000361420.3	37	c.547G>T	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.543760	0.86022	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903;ENST00000370901;ENST00000370900	.	.	.	4.01	4.01	0.46588	.	0.000000	0.47455	D	0.000223	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	10.5268	0.44954	0.0:1.0:0.0:0.0	.	.	.	.	X	183;192;183;192;192;192	.	ENSP00000355010:E192X	E	-	1	0	IGSF1	130246927	0.505000	0.26131	0.995000	0.50966	0.963000	0.63663	0.925000	0.28791	2.243000	0.73865	0.600000	0.82982	GAG		0.517	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			28	36	28	36	---	---	---	---
