#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_BAM_File	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_Mutation_Status	i_NormalRefReads_WU	i_NormalVAF_WU	i_NormalVarReads_WU	i_ORegAnno_bin	i_RNARefReads_WU	i_RNAVAF_WU	i_RNAVarReads_WU	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Start_position_hg18	i_TumorRefReads_WU	i_TumorVAF_WU	i_TumorVarReads_WU	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_deletion_substructures	i_domain	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_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ZYG11A	440590	genome.wustl.edu	37	1	53329692	53329692	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AB-2979-03A-01D-0739-09	TCGA-AB-2979-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	16f3a01d-16b0-4405-bab7-1e22fdeb0b24	79b57153-6800-44e6-9f71-4e7323b04470	g.chr1:53329692C>T	ENST00000371528.1	+	5	1337	c.1189C>T	c.(1189-1191)Cga>Tga	p.R397*	ZYG11A_ENST00000371532.1_Nonsense_Mutation_p.R55*	NM_001004339.2	NP_001004339.2	Q6WRX3	ZY11A_HUMAN	zyg-11 family member A, cell cycle regulator	397								p.R397*(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	10						ATTGGATTTGCGAGTGCAGTT	0.498																																						dbGAP											1	Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(1)	1											126.0	112.0	116.0					1																	53329692		692	1591	2283	53102280	SO:0001587	stop_gained	0				CCDS44148.1	1p32.3	2013-01-17	2012-12-10		ENSG00000203995	ENSG00000203995		"""ZYG11 cell cycle regulator family"""	32058	protein-coding gene	gene with protein product			"""zyg-11 homolog A (C. elegans)"""				Standard	NM_001004339		Approved	ZYG11	uc001cuk.2	Q6WRX3	OTTHUMG00000008923	ENST00000371528.1:c.1189C>T	1.37:g.53329692C>T	ENSP00000360583:p.Arg397*	Somatic	578	1.03	6		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	53102280	534	16.30	104	A6NCK5	Nonsense_Mutation	SNP	superfamily_ARM repeat,superfamily_RNI-like	p.R397*	ENST00000371528.1	37	c.1189	CCDS44148.1	1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.286426	0.80803	.	.	ENSG00000203995	ENST00000371532;ENST00000371528	.	.	.	4.67	0.337	0.15966	.	0.425775	0.27048	N	0.021186	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-0.3813	5.8752	0.18824	0.1295:0.4248:0.3723:0.0733	.	.	.	.	X	55;397	.	ENSP00000360583:R397X	R	+	1	2	ZYG11A	53102280	0.941000	0.31946	0.988000	0.46212	0.153000	0.21895	0.196000	0.17176	-0.087000	0.12528	0.462000	0.41574	CGA	-	NULL		0.498	ZYG11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZYG11A	protein_coding	OTTHUMT00000024856.3	C	NM_001004339		53102280	+1	no_errors	XM_001133615.1	genbank	human	model	54_36p	nonsense	SNP	0.996	T
GBP4	115361	genome.wustl.edu	37	1	89652147	89652147	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2979-03A-01D-0739-09	TCGA-AB-2979-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	16f3a01d-16b0-4405-bab7-1e22fdeb0b24	79b57153-6800-44e6-9f71-4e7323b04470	g.chr1:89652147C>T	ENST00000355754.6	-	10	1673	c.1576G>A	c.(1576-1578)Gag>Aag	p.E526K	GBP4_ENST00000471938.1_5'Flank	NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	526						cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.E526K(1)|p.E526*(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		TGCTGCTGCTCCTTCTGTTTT	0.478																																						dbGAP											2	Substitution - Nonsense(1)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)|lung(1)	1											135.0	103.0	114.0					1																	89652147		2203	4300	6503	89424735	SO:0001583	missense	0			AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.1576G>A	1.37:g.89652147C>T	ENSP00000359490:p.Glu526Lys	Somatic	1470	1.60	24		8	50.00	8	WXS	Illumina HiSeq	Phase_IV	89424735	1485	32.53	717	B2R630|Q05D63|Q6NSL0|Q86T99	Missense_Mutation	SNP	HMMPfam_GBP_C,HMMPfam_GBP,superfamily_GBP,superfamily_SSF52540	p.E526K	ENST00000355754.6	37	c.1576	CCDS721.1	1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.327023	0.41197	.	.	ENSG00000162654	ENST00000355754	T	0.02216	4.39	4.3	4.3	0.51218	Guanylate-binding protein, C-terminal (3);	0.394676	0.26307	N	0.025135	T	0.03520	0.0101	L	0.59436	1.845	0.21933	N	0.99947	D	0.63046	0.992	D	0.65773	0.938	T	0.48990	-0.8985	10	0.16420	T	0.52	.	14.6316	0.68660	0.0:1.0:0.0:0.0	.	526	Q96PP9	GBP4_HUMAN	K	526	ENSP00000359490:E526K	ENSP00000359490:E526K	E	-	1	0	GBP4	89424735	0.000000	0.05858	0.042000	0.18584	0.030000	0.12068	0.529000	0.23019	2.367000	0.80283	0.491000	0.48974	GAG	-	HMMPfam_GBP_C,superfamily_GBP		0.478	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP4	protein_coding	OTTHUMT00000029409.1	C	NM_052941		89424735	-1	no_errors	NM_052941.4	genbank	human	validated	54_36p	missense	SNP	0.530	T
KCNA3	3738	genome.wustl.edu	37	1	111216736	111216736	+	Silent	SNP	C	C	T			TCGA-AB-2979-03A-01D-0739-09	TCGA-AB-2979-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	16f3a01d-16b0-4405-bab7-1e22fdeb0b24	79b57153-6800-44e6-9f71-4e7323b04470	g.chr1:111216736C>T	ENST00000369769.2	-	1	919	c.696G>A	c.(694-696)ccG>ccA	p.P232P		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	232					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)	p.P232P(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	TGCCCCGGGCCGGCCCGGAGC	0.672																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	1											32.0	40.0	38.0					1																	111216736		2203	4300	6503	111018259	SO:0001819	synonymous_variant	0			L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.696G>A	1.37:g.111216736C>T		Somatic	214	3.57	8		15	37.50	9	WXS	Illumina HiSeq	Phase_IV	111018259	275	49.45	272	Q5VWN2	Silent	SNP	HMMSmart_BTB,HMMPfam_K_tetra,HMMPfam_Ion_trans,superfamily_BTB/POZ_fold,superfamily_SSF81324	p.P232	ENST00000369769.2	37	c.696	CCDS828.2	1																																																																																			-	superfamily_SSF81324		0.672	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA3	protein_coding	OTTHUMT00000083391.1	C	NM_002232		111018259	-1	no_errors	NM_002232.3	genbank	human	reviewed	54_36p	silent	SNP	0.967	T
TMEM198	130612	genome.wustl.edu	37	2	220413919	220413919	+	Missense_Mutation	SNP	G	G	A	rs144974523	byFrequency	TCGA-AB-2979-03A-01D-0739-09	TCGA-AB-2979-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	16f3a01d-16b0-4405-bab7-1e22fdeb0b24	79b57153-6800-44e6-9f71-4e7323b04470	g.chr2:220413919G>A	ENST00000344458.2	+	5	1373	c.788G>A	c.(787-789)cGg>cAg	p.R263Q	TMEM198_ENST00000373883.3_Missense_Mutation_p.R263Q|RP11-256I23.1_ENST00000596829.1_RNA|MIR3132_ENST00000581997.1_RNA			Q66K66	TM198_HUMAN	transmembrane protein 198	263	Arg-rich.				multicellular organismal development (GO:0007275)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R263Q(2)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		ATGCGGATTCGGCAGCAGGAA	0.632													G|||	26	0.00519169	0.0197	0.0	5008	,	,		19007	0.0		0.0	False		,,,				2504	0.0					dbGAP											2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	2						G	GLN/ARG	55,4351	54.9+/-90.9	0,55,2148	91.0	98.0	96.0		788	4.6	1.0	2	dbSNP_134	96	2,8598	2.2+/-6.3	0,2,4298	yes	missense	TMEM198	NM_001005209.1	43	0,57,6446	AA,AG,GG		0.0233,1.2483,0.4383	probably-damaging	263/361	220413919	57,12949	2203	4300	6503	220122163	SO:0001583	missense	0			BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760			33704	protein-coding gene	gene with protein product							Standard	NM_001005209		Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.788G>A	2.37:g.220413919G>A	ENSP00000343507:p.Arg263Gln	Somatic	265	4.68	13		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	220122163	235	43.51	181		Missense_Mutation	SNP	NULL	p.R263Q	ENST00000344458.2	37	c.788	CCDS33385.1	2	9	0.004120879120879121	9	0.018292682926829267	0	0.0	0	0.0	0	0.0	G	21.5	4.158298	0.78114	0.012483	2.33E-4	ENSG00000188760	ENST00000344458;ENST00000373883	.	.	.	5.48	4.59	0.56863	.	0.298390	0.30547	N	0.009398	T	0.09774	0.0240	N	0.25485	0.75	0.29115	N	0.880629	D	0.61080	0.989	B	0.42798	0.398	T	0.08391	-1.0724	9	0.45353	T	0.12	-23.256	5.8112	0.18467	0.2626:0.0:0.7374:0.0	.	263	Q66K66	TM198_HUMAN	Q	263	.	ENSP00000343507:R263Q	R	+	2	0	TMEM198	220122163	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.508000	0.67006	2.751000	0.94390	0.555000	0.69702	CGG	-	NULL		0.632	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM198	protein_coding	OTTHUMT00000131063.1	G	NM_001005209		220122163	+1	no_errors	NM_001005209.1	genbank	human	provisional	54_36p	missense	SNP	0.998	A
TRIM36	55521	genome.wustl.edu	37	5	114506379	114506379	+	Intron	SNP	A	A	G			TCGA-AB-2979-03A-01D-0739-09	TCGA-AB-2979-11A-01D-0739-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	16f3a01d-16b0-4405-bab7-1e22fdeb0b24	79b57153-6800-44e6-9f71-4e7323b04470	g.chr5:114506379A>G	ENST00000282369.3	-	2	185				TRIM36_ENST00000513154.1_5'Flank|TRIM36_ENST00000515104.1_5'Flank|TRIM36_ENST00000514154.1_Intron	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36						acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		CTTGCCCAGTAGCGCGGGGAC	0.622																																						dbGAP											0			5																																								114534278	SO:0001627	intron_variant	0			AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16280	protein-coding gene	gene with protein product	"""zinc-binding protein Rbcc728"", ""tripartite motif protein 36"", ""RING finger protein 98"""	609317	"""tripartite motif-containing 36"""			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.64-6930T>C	5.37:g.114506379A>G		Somatic	239	3.61	9		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	114534278	260	42.35	191	A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	NULL	p.S25G	ENST00000282369.3	37	c.73	CCDS4115.1	5																																																																																			-	NULL		0.622	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100131040	protein_coding	OTTHUMT00000250854.2	A	NM_018700		114534278	+1	no_errors	XM_001715034.1	genbank	human	model	54_36p	missense	SNP	0.001	G
PKHD1	5314	genome.wustl.edu	37	6	51524181	51524181	+	Silent	SNP	G	G	C			TCGA-AB-2979-03A-01D-0739-09	TCGA-AB-2979-11A-01D-0739-09	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	16f3a01d-16b0-4405-bab7-1e22fdeb0b24	79b57153-6800-44e6-9f71-4e7323b04470	g.chr6:51524181G>C	ENST00000371117.3	-	61	11018	c.10743C>G	c.(10741-10743)ctC>ctG	p.L3581L		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3581					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.L3581L(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTAGTCTTTCGAGTATTACTA	0.433																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	6											85.0	87.0	86.0					6																	51524181		2203	4300	6503	51632140	SO:0001819	synonymous_variant	0			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.10743C>G	6.37:g.51524181G>C		Somatic	968	2.02	20		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	51632140	1292	45.56	1083	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	HMMPfam_TIG,HMMSmart_SM00429,HMMSmart_SM00710,superfamily_Pectin lyase-like,superfamily_E set domains,HMMPfam_G8	p.L3581	ENST00000371117.3	37	c.10743	CCDS4935.1	6																																																																																			-	NULL		0.433	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	protein_coding	OTTHUMT00000040893.1	G	NM_138694		51632140	-1	no_errors	NM_138694.3	genbank	human	reviewed	54_36p	silent	SNP	0.391	C
TRIM24	8805	genome.wustl.edu	37	7	138266451	138266451	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2979-03A-01D-0739-09	TCGA-AB-2979-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	16f3a01d-16b0-4405-bab7-1e22fdeb0b24	79b57153-6800-44e6-9f71-4e7323b04470	g.chr7:138266451C>T	ENST00000343526.4	+	17	2943	c.2728C>T	c.(2728-2730)Cgc>Tgc	p.R910C	TRIM24_ENST00000415680.2_Missense_Mutation_p.R876C			O15164	TIF1A_HUMAN	tripartite motif containing 24	910					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R876C(1)|p.R910C(1)		breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						GAAGTGTGAGCGCCTACTTTT	0.318																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)	dbGAP											2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	7											92.0	92.0	92.0					7																	138266451		2203	4300	6503	137916991	SO:0001583	missense	0			AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	11812	protein-coding gene	gene with protein product		603406	"""transcriptional intermediary factor 1"", ""tripartite motif-containing 24"""	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.2728C>T	7.37:g.138266451C>T	ENSP00000340507:p.Arg910Cys	Somatic	1009	2.13	22		49	43.02	37	WXS	Illumina HiSeq	Phase_IV	137916991	697	40.90	483	A4D1R7|A4D1R8|O95854	Missense_Mutation	SNP	HMMPfam_zf-B_box,HMMSmart_SM00336,HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain,HMMSmart_SM00184,HMMSmart_SM00249,HMMSmart_SM00502,superfamily_FYVE/PHD zinc finger,PatternScan_ZF_RING_1,PatternScan_BROMODOMAIN_1,HMMPfam_zf-C3HC4,PatternScan_ZF_PHD_1,HMMPfam_PHD,superfamily_RING/U-box	p.R910C	ENST00000343526.4	37	c.2728	CCDS5847.1	7	.	.	.	.	.	.	.	.	.	.	C	18.62	3.663308	0.67700	.	.	ENSG00000122779	ENST00000343526;ENST00000536822;ENST00000415680	T;T	0.31510	1.49;1.49	5.78	2.79	0.32731	Bromodomain (4);	0.000000	0.85682	D	0.000000	T	0.53818	0.1820	M	0.81341	2.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.57556	-0.7791	10	0.87932	D	0	-10.9616	10.2007	0.43082	0.3064:0.622:0.0:0.0716	.	910;876	O15164;O15164-2	TIF1A_HUMAN;.	C	910;821;876	ENSP00000340507:R910C;ENSP00000390829:R876C	ENSP00000340507:R910C	R	+	1	0	TRIM24	137916991	0.993000	0.37304	0.994000	0.49952	0.973000	0.67179	1.341000	0.33907	0.866000	0.35629	0.591000	0.81541	CGC	-	HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain		0.318	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM24	protein_coding	OTTHUMT00000341814.1	C	NM_015905		137916991	+1	no_errors	NM_015905.3	genbank	human	reviewed	54_36p	missense	SNP	0.998	T
INS-IGF2	723961	genome.wustl.edu	37	11	2182073	2182073	+	Silent	SNP	G	G	A	rs201392940	byFrequency	TCGA-AB-2979-03A-01D-0739-09	TCGA-AB-2979-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	16f3a01d-16b0-4405-bab7-1e22fdeb0b24	79b57153-6800-44e6-9f71-4e7323b04470	g.chr11:2182073G>A	ENST00000397270.1	-	2	187	c.129C>T	c.(127-129)tgC>tgT	p.C43C	INS_ENST00000381330.4_Silent_p.C43C|INS_ENST00000397262.1_Silent_p.C43C|INS_ENST00000512523.1_Silent_p.C43C|INS_ENST00000250971.3_Silent_p.C43C|INS-IGF2_ENST00000481781.1_5'Flank	NM_001042376.2	NP_001035835.1	F8WCM5	INSR2_HUMAN	INS-IGF2 readthrough	43						extracellular region (GO:0005576)		p.C43C(2)		haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)		CTCGTTCCCCGCACACTAGGT	0.657													G|||	2	0.000399361	0.0	0.0014	5008	,	,		14502	0.0		0.001	False		,,,				2504	0.0					dbGAP											2	Substitution - coding silent(2)	haematopoietic_and_lymphoid_tissue(2)	11											64.0	66.0	65.0					11																	2182073		2200	4299	6499	2138649	SO:0001819	synonymous_variant	0			DQ104205	CCDS41598.1	11p15.5	2011-03-23			ENSG00000129965	ENSG00000129965			33527	other	readthrough						16531418	Standard	NM_001042376		Approved		uc001lvm.3	F8WCM5	OTTHUMG00000166213	ENST00000397270.1:c.129C>T	11.37:g.2182073G>A		Somatic	46	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	2138649	42	54.84	51	Q1WM24	Silent	SNP	HMMPfam_Insulin,HMMSmart_SM00078,superfamily_Insulin-like	p.C43	ENST00000397270.1	37	c.129	CCDS41598.1	11																																																																																			-	HMMPfam_Insulin,HMMSmart_SM00078,superfamily_Insulin-like		0.657	INS-IGF2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	INS-IGF2	protein_coding	OTTHUMT00000388404.1	G	NM_001042376.2		2138649	-1	no_errors	NM_001042376.1	genbank	human	reviewed	54_36p	silent	SNP	0.999	A
LIMA1	51474	genome.wustl.edu	37	12	50615952	50615953	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AB-2979-03A-01D-0739-09	TCGA-AB-2979-11A-01D-0739-09	-	-	-	T	-	-	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	16f3a01d-16b0-4405-bab7-1e22fdeb0b24	79b57153-6800-44e6-9f71-4e7323b04470	g.chr12:50615952_50615953insT	ENST00000341247.4	-	4	630_631	c.481_482insA	c.(481-483)atgfs	p.M161fs	LIMA1_ENST00000552008.1_5'Flank|RP3-405J10.4_ENST00000551284.1_RNA|LIMA1_ENST00000552909.1_Start_Codon_Ins|LIMA1_ENST00000552823.1_Start_Codon_Ins|LIMA1_ENST00000552783.1_Start_Codon_Ins|LIMA1_ENST00000394943.3_Frame_Shift_Ins_p.M161fs	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	161					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)	p.M161fs*11(1)		NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						ACAATTTTCCATTTTTTTACTT	0.421																																						dbGAP											1	Insertion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)	12																																								48902220	SO:0001589	frameshift_variant	0			AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"""epithelial protein lost in neoplasm beta"""	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.482dupA	12.37:g.50615959_50615959dupT	ENSP00000340184:p.Met161fs	Somatic	763	1.42	11		9	35.71	5	WXS	Illumina HiSeq	Phase_IV	48902219	747	35.55	412	B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Frame_Shift_Ins	INS	HMMPfam_LIM,HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,superfamily_Glucocorticoid receptor-like (DNA-binding domain)	p.M161fs	ENST00000341247.4	37	c.482_481	CCDS8802.1	12																																																																																			-	NULL		0.421	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	LIMA1	protein_coding	OTTHUMT00000406235.2	-	NM_016357		48902220	-1	no_errors	NM_016357.1	genbank	human	validated	54_36p	frame_shift_ins	INS	0.998:0.974	T
CEBPA	1050	genome.wustl.edu	37	19	33792395	33792400	+	In_Frame_Del	DEL	TCCACG	TCCACG	-			TCGA-AB-2979-03A-01D-0739-09	TCGA-AB-2979-11A-01D-0739-09	TCCACG	TCCACG	TCCACG	-	TCCACG	TCCACG	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	16f3a01d-16b0-4405-bab7-1e22fdeb0b24	79b57153-6800-44e6-9f71-4e7323b04470	g.chr19:33792395_33792400delTCCACG	ENST00000498907.2	-	1	1070_1075	c.921_926delCGTGGA	c.(919-927)aacgtggag>aag	p.307_309NVE>K	CEBPA-AS1_ENST00000592982.2_RNA|CTD-2540B15.7_ENST00000587312.1_RNA|CTD-2540B15.11_ENST00000589932.1_RNA	NM_004364.3	NP_004355.2	P49715	CEBPA_HUMAN	CCAAT/enhancer binding protein (C/EBP), alpha	307	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|cholesterol metabolic process (GO:0008203)|cytokine-mediated signaling pathway (GO:0019221)|embryonic placenta development (GO:0001892)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|liver development (GO:0001889)|lung development (GO:0030324)|macrophage differentiation (GO:0030225)|mitochondrion organization (GO:0007005)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ regeneration (GO:0031100)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to glucocorticoid (GO:0051384)|response to vitamin B2 (GO:0033274)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|urea cycle (GO:0000050)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.R306_N307del(4)|p.V308_E309insV(4)|p.N307_V308insQRN(3)|p.R306fs*48(3)|p.V308>ADTAKQRNV(2)|p.N307_V308ins16(2)|p.E309fs*21(1)|p.Q305_R306insKAKQR(1)|p.Q305_T310del(1)|p.H200_K352>Q(1)|p.V308_E309insDKAKQRNV(1)|p.V308>ARQGQAAQL(1)|p.N307_Q312del(1)|p.V308_E309insL(1)|p.?(1)|p.E309fs*10(1)|p.E309fs*13(1)|p.N307_V308insH(1)|p.N307_V308insN(1)|p.V308_E309insP(1)|p.V308_E309insGDKAKQRNV(1)|p.E309>AKQRNVE(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(912)|lung(5)|prostate(1)|stomach(1)	920	Esophageal squamous(110;0.137)					CTGCTGCGTCTCCACGTTGCGCTGCT	0.636			"""Mis, N, F"""		"""AML, MDS"""				Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation																													dbGAP		Dom	yes		19	19q13.1	1050	"""CCAAT/enhancer binding protein (C/EBP), alpha"""		L	34	Insertion - In frame(16)|Deletion - In frame(6)|Complex - insertion inframe(4)|Complex - deletion inframe(4)|Insertion - Frameshift(2)|Unknown(1)|Complex - frameshift(1)	haematopoietic_and_lymphoid_tissue(34)	19																																								38484240	SO:0001651	inframe_deletion	0	Familial Cancer Database	Familial AML	M37197	CCDS54243.1	19q13.1	2014-09-17				ENSG00000245848		"""basic leucine zipper proteins"""	1833	protein-coding gene	gene with protein product		116897		CEBP		1535333, 1840554	Standard	NM_004364		Approved	C/EBP-alpha	uc002nun.3	P49715		ENST00000498907.2:c.921_926delCGTGGA	19.37:g.33792395_33792400delTCCACG	ENSP00000427514:p.Asn307_Glu309delinsLys	Somatic	NA	NA	NA		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	38484235	NA	NA	NA	A7LNP2|P78319|Q05CA4	In_Frame_Del	DEL	HMMSmart_BRLZ,PatternScan_BZIP_BASIC,HMMPfam_bZIP_2	p.NVE307in_frame_delK	ENST00000498907.2	37	c.926_921	CCDS54243.1	19																																																																																			-	HMMSmart_BRLZ,HMMPfam_bZIP_2		0.636	CEBPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEBPA	protein_coding	OTTHUMT00000365012.1	TCCACG	NM_004364		38484240	-1	no_errors	NM_004364.3	genbank	human	reviewed	54_36p	in_frame_del	DEL	1.000:1.000:1.000:1.000:1.000:1.000	-
CEBPA	1050	genome.wustl.edu	37	19	33793119	33793120	+	Frame_Shift_Del	DEL	TG	TG	-	rs137852731		TCGA-AB-2979-03A-01D-0739-09	TCGA-AB-2979-11A-01D-0739-09	TG	TG	TG	-	TG	TG	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	16f3a01d-16b0-4405-bab7-1e22fdeb0b24	79b57153-6800-44e6-9f71-4e7323b04470	g.chr19:33793119_33793120delTG	ENST00000498907.2	-	1	350_351	c.201_202delCA	c.(199-204)tacatcfs	p.I68fs	CEBPA-AS1_ENST00000592982.2_RNA|CTD-2540B15.7_ENST00000587312.1_RNA|CTD-2540B15.11_ENST00000589932.1_RNA|CTD-2540B15.9_ENST00000593041.1_lincRNA	NM_004364.3	NP_004355.2	P49715	CEBPA_HUMAN	CCAAT/enhancer binding protein (C/EBP), alpha	68					acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|cholesterol metabolic process (GO:0008203)|cytokine-mediated signaling pathway (GO:0019221)|embryonic placenta development (GO:0001892)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|liver development (GO:0001889)|lung development (GO:0030324)|macrophage differentiation (GO:0030225)|mitochondrion organization (GO:0007005)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ regeneration (GO:0031100)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to glucocorticoid (GO:0051384)|response to vitamin B2 (GO:0033274)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|urea cycle (GO:0000050)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.I68fs*41(4)|p.Y67fs*92(2)|p.S61fs*88(1)|p.I68>NI(1)|p.Y67fs*95(1)|p.I68fs*39(1)|p.Y7_G130del(1)|p.Y67fs*42(1)|p.Y67fs*37(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(912)|lung(5)|prostate(1)|stomach(1)	920	Esophageal squamous(110;0.137)					GCCGGGTCGATGTAGGCGCTGA	0.752			"""Mis, N, F"""		"""AML, MDS"""				Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation																													dbGAP		Dom	yes		19	19q13.1	1050	"""CCAAT/enhancer binding protein (C/EBP), alpha"""		L	13	Insertion - Frameshift(6)|Deletion - Frameshift(5)|Deletion - In frame(1)|Complex - insertion inframe(1)	haematopoietic_and_lymphoid_tissue(13)	19	GRCh37	CI087025	CEBPA	I	rs137852731																																			38484960	SO:0001589	frameshift_variant	0	Familial Cancer Database	Familial AML	M37197	CCDS54243.1	19q13.1	2014-09-17				ENSG00000245848		"""basic leucine zipper proteins"""	1833	protein-coding gene	gene with protein product		116897		CEBP		1535333, 1840554	Standard	NM_004364		Approved	C/EBP-alpha	uc002nun.3	P49715		ENST00000498907.2:c.201_202delCA	19.37:g.33793119_33793120delTG	ENSP00000427514:p.Ile68fs	Somatic	0	0.00	0		0	48.65	651	WXS	Illumina HiSeq	Phase_IV	38484959	0	42.03	29	A7LNP2|P78319|Q05CA4	Frame_Shift_Del	DEL	HMMSmart_BRLZ,PatternScan_BZIP_BASIC,HMMPfam_bZIP_2	p.I68fs	ENST00000498907.2	37	c.202_201	CCDS54243.1	19																																																																																			-	NULL		0.752	CEBPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEBPA	protein_coding	OTTHUMT00000365012.1	TG	NM_004364		38484960	-1	no_errors	NM_004364.3	genbank	human	reviewed	54_36p	frame_shift_del	DEL	1.000:1.000	-
