#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
OC90	729330	broad.mit.edu	37	8	133053841	133053841	+	Missense_Mutation	SNP	C	C	T	rs372434452		TCGA-ET-A39R-01A-11D-A19J-08	TCGA-ET-A39R-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc29bed0-8ced-477b-8b69-3db24426a0b9	ec696761-1a5e-4925-b59b-e3e9d42edc7d	g.chr8:133053841C>T	ENST00000443356.2	-	5	361	c.275G>A	c.(274-276)cGa>cAa	p.R92Q	OC90_ENST00000603859.1_Missense_Mutation_p.R92Q|OC90_ENST00000262283.5_Missense_Mutation_p.R288Q|OC90_ENST00000254627.3_Missense_Mutation_p.R92Q			Q02509	OC90_HUMAN	otoconin 90	92	Phospholipase A2-like 1.				lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			TTCAAAGTCTCGGGGGCAGAG	0.527																																						uc003ytg.2																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37						c.(226-228)cGa>cAa		Homo sapiens otoconin 90 (OC90), mRNA.		C	GLN/ARG	1,3995		0,1,1997	46.0	47.0	47.0		275	4.9	1.0	8		47	0,8330		0,0,4165	no	missense	OC90	NM_001080399.2	43	0,1,6162	TT,TC,CC		0.0,0.025,0.0081	probably-damaging	92/478	133053841	1,12325	1998	4165	6163	SO:0001583	missense	729330				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	g.chr8:133053841C>T	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.275G>A	8.37:g.133053841C>T	ENSP00000390050:p.Arg92Gln		Somatic				OC90_uc011lix.1_Missense_Mutation_p.R92Q	p.R76Q	NM_001080399	NP_001073868	WXS	Illumina GAIIx	Phase_I	Q02509	OC90_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)		2	227	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		92			Phospholipase A2-like 1.		B4DNG8	Missense_Mutation	SNP	ENST00000443356.2	37	c.227G>A		.	.	.	.	.	.	.	.	.	.	C	23.0	4.367936	0.82463	2.5E-4	0.0	ENSG00000253117;ENSG00000253117;ENSG00000258417	ENST00000254627;ENST00000443356;ENST00000262283	T;T;T	0.26373	1.74;1.74;1.74	5.88	4.9	0.64082	Phospholipase A2 (3);	0.204155	0.39909	N	0.001230	T	0.44644	0.1303	M	0.68952	2.095	0.30403	N	0.779799	D;D	0.89917	1.0;1.0	D;D	0.72982	0.965;0.979	T	0.40098	-0.9581	10	0.38643	T	0.18	-24.1919	10.1278	0.42661	0.0:0.8788:0.0:0.1212	.	92;92	Q02509-2;Q02509	.;OC90_HUMAN	Q	92;92;288	ENSP00000254627:R92Q;ENSP00000390050:R92Q;ENSP00000262283:R288Q	ENSP00000254627:R92Q	R	-	2	0	RP11-240B13.2;OC90	133123023	0.991000	0.36638	0.998000	0.56505	0.991000	0.79684	2.905000	0.48727	2.790000	0.95986	0.591000	0.81541	CGA		0.527	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399		7	13	0	0	0	1	0	7	13				
IRS1	3667	broad.mit.edu	37	2	227663266	227663266	+	Silent	SNP	C	C	A			TCGA-ET-A39R-01A-11D-A19J-08	TCGA-ET-A39R-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc29bed0-8ced-477b-8b69-3db24426a0b9	ec696761-1a5e-4925-b59b-e3e9d42edc7d	g.chr2:227663266C>A	ENST00000305123.5	-	1	1209	c.189G>T	c.(187-189)tcG>tcT	p.S63S	RP11-395N3.2_ENST00000607970.1_lincRNA	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	63	Mediates interaction with PHIP. {ECO:0000250}.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CAAGGGGGATCGAGCGTTTGG	0.637																																						uc002voh.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(187-189)tcG>tcT		Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.							85.0	104.0	97.0					2																	227663266		2203	4300	6503	SO:0001819	synonymous_variant	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	SH2 domain binding|insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227663266C>A		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.189G>T	2.37:g.227663266C>A			Somatic				IRS1_uc021vxn.1_Silent_p.S63S	p.S63S	NM_005544	NP_005535	WXS	Illumina GAIIx	Phase_I	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	0	241	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	63			Mediates interaction with PHIP (By similarity).|PH.			Silent	SNP	ENST00000305123.5	37	c.189G>T	CCDS2463.1																																																																																				0.637	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		21	148	0	0	0	1	0	21	148				
ZNF777	27153	broad.mit.edu	37	7	149129472	149129472	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A39R-01A-11D-A19J-08	TCGA-ET-A39R-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc29bed0-8ced-477b-8b69-3db24426a0b9	ec696761-1a5e-4925-b59b-e3e9d42edc7d	g.chr7:149129472C>G	ENST00000247930.4	-	6	2214	c.1891G>C	c.(1891-1893)Ggt>Cgt	p.G631R		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	631	Poly-Gly.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TTAGGGCCACCGCCGCCGCTA	0.667																																						uc003wfv.3																			0		p.G630C(1)		large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26						c.(1891-1893)Ggt>Cgt		Homo sapiens zinc finger protein 777 (ZNF777), mRNA.							73.0	90.0	84.0					7																	149129472		2149	4252	6401	SO:0001583	missense	27153				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149129472C>G	AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"""Zinc fingers, C2H2-type"", ""-"""	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.1891G>C	7.37:g.149129472C>G	ENSP00000247930:p.Gly631Arg		Somatic					p.G631R	NM_015694	NP_056509	WXS	Illumina GAIIx	Phase_I	Q9ULD5	ZN777_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		5	2054	-	Melanoma(164;0.165)		631			Poly-Gly.		Q8N2R2|Q8N659	Missense_Mutation	SNP	ENST00000247930.4	37	c.1891G>C	CCDS43675.1	.	.	.	.	.	.	.	.	.	.	C	8.571	0.880102	0.17467	.	.	ENSG00000196453	ENST00000247930;ENST00000314683	T	0.05447	3.44	4.7	2.87	0.33458	.	0.452476	0.18702	N	0.133544	T	0.07143	0.0181	N	0.04880	-0.145	0.23381	N	0.997792	D	0.63046	0.992	P	0.57620	0.824	T	0.31110	-0.9955	10	0.59425	D	0.04	-15.6726	10.1886	0.43013	0.0:0.8164:0.0:0.1836	.	631	Q9ULD5-2	.	R	631;374	ENSP00000247930:G631R	ENSP00000247930:G631R	G	-	1	0	ZNF777	148760405	0.061000	0.20836	0.855000	0.33649	0.025000	0.11179	1.199000	0.32235	0.090000	0.17273	-1.842000	0.00583	GGT		0.667	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	NM_015694		32	106	0	0	0	1	0	32	106				
HAUS7	55559	broad.mit.edu	37	X	152734614	152734614	+	Missense_Mutation	SNP	T	T	C			TCGA-ET-A39R-01A-11D-A19J-08	TCGA-ET-A39R-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc29bed0-8ced-477b-8b69-3db24426a0b9	ec696761-1a5e-4925-b59b-e3e9d42edc7d	g.chrX:152734614T>C	ENST00000370211.4	-	2	287	c.244A>G	c.(244-246)Atg>Gtg	p.M82V	HAUS7_ENST00000370210.1_Missense_Mutation_p.M72V|TREX2_ENST00000370232.1_5'UTR|TREX2_ENST00000330912.2_5'UTR|HAUS7_ENST00000370212.3_Missense_Mutation_p.M82V|HAUS7_ENST00000421080.2_5'UTR|TREX2_ENST00000338525.2_5'UTR|TREX2_ENST00000334497.2_5'UTR	NM_017518.7	NP_059988.3	Q99871	HAUS7_HUMAN	HAUS augmin-like complex, subunit 7	82					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	thioesterase binding (GO:0031996)			endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)	19						CGGGTACACATCCACTCTAGG	0.552																																						uc004fhn.2																			0				endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)	19						c.(244-246)Atg>Gtg		Homo sapiens HAUS augmin-like complex, subunit 7 (HAUS7), mRNA.							210.0	178.0	189.0					X																	152734614		2203	4300	6503	SO:0001583	missense	55559				cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|nucleolus|plasma membrane|spindle	thioesterase binding	g.chrX:152734614T>C	AF267739	CCDS35438.1	Xq28	2011-10-24	2009-04-20	2009-04-20		ENSG00000213397		"""HAUS augmin-like complex subunits"""	32979	protein-coding gene	gene with protein product	"""UCH37 interacting protein 1"", ""26S proteasome-associated UCH interacting protein 1"""	300540	"""UCHL5 interacting protein"""	UCHL5IP		11163772, 16395595, 19427217	Standard	NM_017518		Approved	UIP1	uc004fho.2	Q99871		ENST00000370211.4:c.244A>G	X.37:g.152734614T>C	ENSP00000359230:p.Met82Val		Somatic				HAUS7_uc004fhl.3_Non-coding_Transcript|HAUS7_uc004fhm.3_Non-coding_Transcript|HAUS7_uc004fho.2_Missense_Mutation_p.M82V|HAUS7_uc004fhp.2_Non-coding_Transcript|HAUS7_uc011myq.1_Non-coding_Transcript	p.M82V	NM_017518	NP_059988	WXS	Illumina GAIIx	Phase_I	Q99871	HAUS7_HUMAN			1	802	-			82					B4DUH6|D3DWT9|Q96HS8|Q9NP54|Q9UFH9	Missense_Mutation	SNP	ENST00000370211.4	37	c.244A>G	CCDS35438.1	.	.	.	.	.	.	.	.	.	.	T	12.13	1.846738	0.32606	.	.	ENSG00000213397	ENST00000370211;ENST00000370219;ENST00000370212;ENST00000453918;ENST00000370210	T;T;T;T	0.25912	1.77;1.77;1.77;1.77	4.76	0.461	0.16689	.	0.279979	0.37178	N	0.002205	T	0.18509	0.0444	L	0.54323	1.7	0.80722	D	1	B;B	0.30146	0.102;0.27	B;B	0.24701	0.049;0.055	T	0.05037	-1.0910	10	0.62326	D	0.03	-9.8769	3.9402	0.09323	0.4121:0.0:0.1829:0.405	.	82;82	Q99871;Q99871-2	HAUS7_HUMAN;.	V	72;82;82;141;72	ENSP00000359230:M72V;ENSP00000359239:M82V;ENSP00000359231:M82V;ENSP00000359229:M72V	ENSP00000359229:M72V	M	-	1	0	HAUS7	152387808	0.989000	0.36119	0.934000	0.37439	0.926000	0.56050	0.025000	0.13577	0.151000	0.19162	0.486000	0.48141	ATG		0.552	HAUS7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060963.2	NM_017518		41	77	0	0	0	1	0	41	77				
COL5A3	50509	broad.mit.edu	37	19	10116500	10116500	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A39R-01A-11D-A19J-08	TCGA-ET-A39R-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc29bed0-8ced-477b-8b69-3db24426a0b9	ec696761-1a5e-4925-b59b-e3e9d42edc7d	g.chr19:10116500G>A	ENST00000264828.3	-	3	494	c.409C>T	c.(409-411)Ccc>Tcc	p.P137S		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	137	Laminin G-like.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			ACCTGCTGGGGGAGGGGGCGG	0.657																																						uc002mmq.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(409-411)Ccc>Tcc		Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.							18.0	20.0	20.0					19																	10116500		2182	4278	6460	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10116500G>A	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.409C>T	19.37:g.10116500G>A	ENSP00000264828:p.Pro137Ser		Somatic					p.P137S	NM_015719	NP_056534	WXS	Illumina GAIIx	Phase_I	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		2	495	-			137			TSP N-terminal.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.409C>T	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.146488	0.37923	.	.	ENSG00000080573	ENST00000264828	T	0.02050	4.48	4.02	4.02	0.46733	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);	0.151679	0.45867	D	0.000332	T	0.03136	0.0092	N	0.15975	0.35	0.30321	N	0.787564	D	0.65815	0.995	P	0.57911	0.829	T	0.47058	-0.9146	10	0.13470	T	0.59	.	11.5368	0.50641	0.0:0.0:1.0:0.0	.	137	P25940	CO5A3_HUMAN	S	137	ENSP00000264828:P137S	ENSP00000264828:P137S	P	-	1	0	COL5A3	9977500	0.999000	0.42202	0.951000	0.38953	0.929000	0.56500	3.466000	0.53071	2.096000	0.63516	0.462000	0.41574	CCC		0.657	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		7	9	0	0	0	1	0	7	9				
AHDC1	27245	broad.mit.edu	37	1	27877329	27877331	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-ET-A39R-01A-11D-A19J-08	TCGA-ET-A39R-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc29bed0-8ced-477b-8b69-3db24426a0b9	ec696761-1a5e-4925-b59b-e3e9d42edc7d	g.chr1:27877329_27877331delGGT	ENST00000247087.5	-	5	1892_1894	c.1296_1298delACC	c.(1294-1299)ccaccg>ccg	p.432_433PP>P	AHDC1_ENST00000374011.2_In_Frame_Del_p.432_433PP>P			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	432	Pro-rich.						DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TGGAGGAGGCGGTGGTGGTGGGG	0.714																																						uc009vsy.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(1294-1299)ccaccg>ccg		Homo sapiens AT hook, DNA binding motif, containing 1 (AHDC1), mRNA.																																				SO:0001651	inframe_deletion	27245						DNA binding	g.chr1:27877329_27877331delGGT	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.1296_1298delACC	1.37:g.27877335_27877337delGGT	ENSP00000247087:p.Pro438del		Somatic				AHDC1_uc009vsz.1_In_Frame_Del_p.432_433PP>P|AHDC1_uc021ojw.1_In_Frame_Del_p.432_433PP>P	p.432_433PP>P	NM_001029882	NP_001025053	WXS	Illumina GAIIx	Phase_I	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	5	2265_2267	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	432			Pro-rich.		Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	In_Frame_Del	DEL	ENST00000247087.5	37	c.1296_1298delACC	CCDS30652.1																																																																																				0.714	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			2	4						2	4	---	---	---	---
