#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
SCML2	10389	genome.wustl.edu	37	X	18264755	18264755	+	Silent	SNP	G	G	A			TCGA-AB-2804-03B-01W-0728-08	TCGA-AB-2804-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	3b3597ef-18f7-48a0-a39a-3a9e09f0a1d7	cc098a35-5f3d-460b-9d1c-f37f513dfc21	g.chrX:18264755G>A	ENST00000251900.4	-	13	1923	c.1764C>T	c.(1762-1764)gaC>gaT	p.D588D	SCML2_ENST00000398048.3_Silent_p.D324D	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	588					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					TGGGGGATATGTCCCCAACTA	0.423																																					Esophageal Squamous(100;1252 1965 19021 35517)	dbGAP											0			X											122.0	106.0	112.0					X																	18264755		2203	4300	6503	18174676	SO:0001819	synonymous_variant	0			Y18004	CCDS14185.1	Xp22	2013-01-10	2001-11-28		ENSG00000102098	ENSG00000102098		"""Sterile alpha motif (SAM) domain containing"""	10581	protein-coding gene	gene with protein product		300208	"""sex comb on midleg (Drosophila)-like 2"""			10331946	Standard	NM_006089		Approved		uc004cyl.2	Q9UQR0	OTTHUMG00000021212	ENST00000251900.4:c.1764C>T	X.37:g.18264755G>A		Somatic	44	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	18174676	43	68.35	95	Q5JXE6|Q86U98|Q8IWD0|Q8NDP2|Q9UGC5	Silent	SNP	HMMPfam_SAM_1,HMMSmart_SM00454,HMMPfam_MBT,HMMSmart_SM00561,superfamily_SAM/Pointed domain,superfamily_Tudor/PWWP/MBT	p.D588	ENST00000251900.4	37	c.1764	CCDS14185.1	X	.	.	.	.	.	.	.	.	.	.	G	4.241	0.043625	0.08196	.	.	ENSG00000102098	ENST00000420857	.	.	.	5.4	-2.04	0.07343	.	.	.	.	.	T	0.19485	0.0468	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23797	-1.0178	4	.	.	.	.	1.6377	0.02746	0.4481:0.135:0.2706:0.1463	.	.	.	.	I	104	.	.	T	-	2	0	SCML2	18174676	0.009000	0.17119	0.000000	0.03702	0.042000	0.13812	-0.017000	0.12590	-0.736000	0.04831	0.422000	0.28245	ACA	-	NULL		0.423	SCML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCML2	protein_coding	OTTHUMT00000055941.1	G	NM_006089		18174676	-1	no_errors	NM_006089.2	genbank	human	validated	54_36p	silent	SNP	0.001	A
PHF6	84295	genome.wustl.edu	37	X	133527979	133527979	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AB-2804-03B-01W-0728-08	TCGA-AB-2804-11B-01W-0728-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	3b3597ef-18f7-48a0-a39a-3a9e09f0a1d7	cc098a35-5f3d-460b-9d1c-f37f513dfc21	g.chrX:133527979G>T	ENST00000332070.3	+	5	617	c.415G>T	c.(415-417)Gaa>Taa	p.E139*	PHF6_ENST00000370799.1_Nonsense_Mutation_p.E139*|PHF6_ENST00000370800.4_Nonsense_Mutation_p.E139*|PHF6_ENST00000370803.3_Nonsense_Mutation_p.E139*|PHF6_ENST00000416404.2_Nonsense_Mutation_p.E105*|PHF6_ENST00000394292.1_Nonsense_Mutation_p.E139*	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6	139					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|scaffold protein binding (GO:0097110)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					ACATAACTCCGAAGGTACATC	0.299			"""F, N, Splice, Mis"""		ETP ALL																																Colon(100;666 1493 6344 21231 35807)	dbGAP		Rec	yes		X	Xq26.3	84295	PHD finger protein 6		L	0			X											76.0	71.0	73.0					X																	133527979		2203	4299	6502	133355645	SO:0001587	stop_gained	0			AB058726	CCDS14639.1, CCDS14640.1	Xq26	2014-09-17			ENSG00000156531	ENSG00000156531		"""Zinc fingers, PHD-type"""	18145	protein-coding gene	gene with protein product	"""centromere protein 31"""	300414	"""Borjeson-Forssman-Lehmann syndrome"""	BFLS, BORJ		12415272, 15466013	Standard	NM_032335		Approved	KIAA1823, MGC14797, CENP-31	uc004exk.3	Q8IWS0	OTTHUMG00000022453	ENST00000332070.3:c.415G>T	X.37:g.133527979G>T	ENSP00000329097:p.Glu139*	Somatic	25	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	133355645	15	83.15	74	A8K230|B4E0G4|D3DTG3|E9PC97|Q5JRC7|Q5JRC8|Q96JK3|Q9BRU0	Nonsense_Mutation	SNP	HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger	p.E139*	ENST00000332070.3	37	c.415	CCDS14639.1	X	.	.	.	.	.	.	.	.	.	.	G	37	6.250546	0.97412	.	.	ENSG00000156531	ENST00000370803;ENST00000332070;ENST00000394292;ENST00000370799;ENST00000416404;ENST00000370800	.	.	.	4.92	4.92	0.64577	.	0.402385	0.30911	N	0.008626	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-21.582	14.6308	0.68655	0.0:0.0:1.0:0.0	.	.	.	.	X	139;139;139;139;105;139	.	ENSP00000329097:E139X	E	+	1	0	PHF6	133355645	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	4.914000	0.63348	2.178000	0.69098	0.462000	0.41574	GAA	-	NULL		0.299	PHF6-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHF6	protein_coding	OTTHUMT00000058367.1	G	NM_032458		133355645	+1	no_errors	NM_001015877.1	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	T
LIMS2	55679	genome.wustl.edu	37	2	128412067	128412067	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-2804-03B-01W-0728-08	TCGA-AB-2804-11B-01W-0728-08	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	3b3597ef-18f7-48a0-a39a-3a9e09f0a1d7	cc098a35-5f3d-460b-9d1c-f37f513dfc21	g.chr2:128412067G>C	ENST00000355119.4	-	4	455	c.290C>G	c.(289-291)cCg>cGg	p.P97R	LIMS2_ENST00000545738.2_Missense_Mutation_p.P119R|LIMS2_ENST00000410011.1_Missense_Mutation_p.P92R|LIMS2_ENST00000409455.1_Missense_Mutation_p.P92R|LIMS2_ENST00000324938.5_Missense_Mutation_p.P121R|LIMS2_ENST00000409808.2_Missense_Mutation_p.P92R	NM_001161403.1	NP_001154875.1	Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	97	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		GAAGCAGCCCGGGTGCCAGTT	0.612																																						dbGAP											0			2											147.0	138.0	141.0					2																	128412067		2203	4300	6503	128128537	SO:0001583	missense	0			AF520987	CCDS2147.1, CCDS54394.1, CCDS54395.1, CCDS54396.1, CCDS58725.1	2q21.1	2008-02-05			ENSG00000072163	ENSG00000072163			16084	protein-coding gene	gene with protein product		607908					Standard	NM_017980		Approved		uc002tox.3	Q7Z4I7	OTTHUMG00000131529	ENST00000355119.4:c.290C>G	2.37:g.128412067G>C	ENSP00000347240:p.Pro97Arg	Somatic	18	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	128128537	35	40.68	24	A6NLH0|B4DMV1|F5H6E6|Q7Z4I2|Q7Z4I6|Q7Z4I8|Q8NFE7|Q9HA13	Missense_Mutation	SNP	HMMPfam_LIM,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,superfamily_SSF57716	p.P121R	ENST00000355119.4	37	c.362	CCDS54395.1	2	.	.	.	.	.	.	.	.	.	.	.	27.4	4.826782	0.90955	.	.	ENSG00000072163	ENST00000545738;ENST00000355119;ENST00000324938;ENST00000409455;ENST00000410109;ENST00000409808;ENST00000410011;ENST00000544917;ENST00000422034	D;D;D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25;-2.25;-2.25	5.37	5.37	0.77165	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.94551	0.8245	M	0.87827	2.91	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.91635	0.98;0.999;0.999	D	0.95083	0.8215	10	0.72032	D	0.01	.	19.0997	0.93269	0.0:0.0:1.0:0.0	.	119;97;121	F5H6E6;Q7Z4I7;Q7Z4I7-2	.;LIMS2_HUMAN;.	R	119;97;121;92;92;92;92;119;92	ENSP00000443794:P119R;ENSP00000347240:P97R;ENSP00000326888:P121R;ENSP00000386383:P92R;ENSP00000386637:P92R;ENSP00000387002:P92R	ENSP00000326888:P121R	P	-	2	0	LIMS2	128128537	1.000000	0.71417	0.951000	0.38953	0.997000	0.91878	9.724000	0.98775	2.523000	0.85059	0.609000	0.83330	CCG	-	HMMPfam_LIM,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,superfamily_SSF57716		0.612	LIMS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LIMS2	protein_coding	OTTHUMT00000331133.2	G	NM_017980		128128537	-1	no_errors	NM_017980.1	genbank	human	provisional	54_36p	missense	SNP	0.999	C
GNRHR	2798	genome.wustl.edu	37	4	68619639	68619639	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2804-03B-01W-0728-08	TCGA-AB-2804-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	3b3597ef-18f7-48a0-a39a-3a9e09f0a1d7	cc098a35-5f3d-460b-9d1c-f37f513dfc21	g.chr4:68619639G>A	ENST00000226413.4	-	1	439	c.415C>T	c.(415-417)Cgc>Tgc	p.R139C	UBA6-AS1_ENST00000500538.2_RNA|UBA6-AS1_ENST00000502758.1_RNA|GNRHR_ENST00000420975.2_Missense_Mutation_p.R139C	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	139			R -> H (in HH7; completely eliminates detectable GnRH-binding activity and prevents GnRH-induced stimulation of inositol phosphate accumulation in vitro). {ECO:0000269|PubMed:11397871}.		cellular response to gonadotropin-releasing hormone (GO:0097211)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gonadotropin-releasing hormone receptor activity (GO:0004968)	p.R139S(1)		endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Buserelin(DB06719)|Cetrorelix(DB00050)|Danazol(DB01406)|Degarelix(DB06699)|Gonadorelin(DB00644)|Goserelin(DB00014)|Leuprolide(DB00007)|Nafarelin(DB00666)	GCCAGGGAGCGGTCCAGGCTG	0.517																																						dbGAP											1	Substitution - Missense(1)	lung(1)	4	GRCh37	CM066865	GNRHR	M							75.0	74.0	74.0					4																	68619639		2203	4300	6503	68302234	SO:0001583	missense	0				CCDS3517.1, CCDS47064.1	4q21.2	2012-08-08			ENSG00000109163	ENSG00000109163		"""GPCR / Class A : Gonadotropin-releasing hormone receptors"""	4421	protein-coding gene	gene with protein product		138850		GRHR		8386108	Standard	NM_000406		Approved	LHRHR	uc003hdn.3	P30968	OTTHUMG00000129302	ENST00000226413.4:c.415C>T	4.37:g.68619639G>A	ENSP00000226413:p.Arg139Cys	Somatic	83	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	68302234	146	43.94	116	O75793|Q14D13|Q92644	Missense_Mutation	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like	p.R139C	ENST00000226413.4	37	c.415	CCDS3517.1	4	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500475	0.64298	.	.	ENSG00000109163	ENST00000226413;ENST00000420975	D;D	0.97186	-4.28;-4.28	6.17	5.26	0.73747	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000007	D	0.98673	0.9555	M	0.92784	3.345	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.98781	1.0732	10	0.87932	D	0	-18.7797	13.5464	0.61707	0.0:0.0:0.7798:0.2202	.	139;139	P30968;P30968-2	GNRHR_HUMAN;.	C	139	ENSP00000226413:R139C;ENSP00000397561:R139C	ENSP00000226413:R139C	R	-	1	0	GNRHR	68302234	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	3.238000	0.51352	2.941000	0.99782	0.655000	0.94253	CGC	-	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like		0.517	GNRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNRHR	protein_coding	OTTHUMT00000251432.2	G			68302234	-1	no_errors	NM_000406.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
ATP2A2	488	genome.wustl.edu	37	12	110765452	110765452	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2804-03B-01W-0728-08	TCGA-AB-2804-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	3b3597ef-18f7-48a0-a39a-3a9e09f0a1d7	cc098a35-5f3d-460b-9d1c-f37f513dfc21	g.chr12:110765452C>T	ENST00000539276.2	+	8	834	c.725C>T	c.(724-726)aCa>aTa	p.T242I	ATP2A2_ENST00000395494.2_Missense_Mutation_p.T215I|ATP2A2_ENST00000308664.6_Missense_Mutation_p.T242I			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	242					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						ATGGTGGCAACAGAACAGGAG	0.453																																						dbGAP											0			12											182.0	180.0	181.0					12																	110765452		2203	4300	6503	109249835	SO:0001583	missense	0				CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"""ATPases / P-type"""	812	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 2"", ""calcium pump 2"""	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.725C>T	12.37:g.110765452C>T	ENSP00000440045:p.Thr242Ile	Somatic	82	1.20	1		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	109249835	184	35.27	103	A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	HMMPfam_Cation_ATPase_N,HMMPfam_Hydrolase,HMMPfam_Cation_ATPase_C,HMMPfam_E1-E2_ATPase,PatternScan_ATPASE_E1_E2,superfamily_HAD-like,superfamily_Calcium ATPase transduction domain A,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_Calcium ATPase transmembrane domain M	p.T242I	ENST00000539276.2	37	c.725	CCDS9144.1	12	.	.	.	.	.	.	.	.	.	.	C	19.90	3.911928	0.72983	.	.	ENSG00000174437	ENST00000308664;ENST00000395494;ENST00000539276	D;D;D	0.90069	-2.61;-2.61;-2.61	5.38	5.38	0.77491	ATPase, P-type, ATPase-associated domain (1);	0.043144	0.85682	D	0.000000	D	0.86443	0.5934	N	0.16037	0.36	0.80722	D	1	P;B;P	0.49696	0.827;0.4;0.927	B;B;P	0.49999	0.354;0.218;0.628	D	0.88745	0.3246	10	0.72032	D	0.01	.	19.5589	0.95364	0.0:1.0:0.0:0.0	.	215;242;242	P16615-4;P16615-2;P16615	.;.;AT2A2_HUMAN	I	242;215;242	ENSP00000311186:T242I;ENSP00000378872:T215I;ENSP00000440045:T242I	ENSP00000311186:T242I	T	+	2	0	ATP2A2	109249835	1.000000	0.71417	0.548000	0.28192	0.991000	0.79684	7.760000	0.85248	2.694000	0.91930	0.585000	0.79938	ACA	-	HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transmembrane domain M		0.453	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	ATP2A2	protein_coding	OTTHUMT00000403539.1	C	NM_001681		109249835	+1	no_errors	NM_170665.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
GOLGA8B	440270	genome.wustl.edu	37	15	34815273	34815273	+	IGR	SNP	G	G	C			TCGA-AB-2804-03B-01W-0728-08	TCGA-AB-2804-11B-01W-0728-08	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	3b3597ef-18f7-48a0-a39a-3a9e09f0a1d7	cc098a35-5f3d-460b-9d1c-f37f513dfc21	g.chr15:34815273G>C	ENST00000342314.5	-	0	4335				GOLGA8A_ENST00000543376.1_Intron	NM_001023567.4	NP_001018861.3	A8MQT2	GOG8B_HUMAN	golgin A8 family, member B							Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(1)	1		all_lung(180;2.78e-08)		all cancers(64;8.27e-19)|GBM - Glioblastoma multiforme(113;6.98e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		CCAGCTCTCTGCTCCCTTTTG	0.637																																						dbGAP											0			15																																								32602565	SO:0001628	intergenic_variant	0			AF164622	CCDS45211.1	15q14	2011-10-25	2010-02-12		ENSG00000215252	ENSG00000215252			31973	protein-coding gene	gene with protein product		609619	"""golgi autoantigen, golgin subfamily a, 8B"""				Standard	NM_001023567		Approved		uc001ziq.3	A8MQT2	OTTHUMG00000129549		15.37:g.34815273G>C		Somatic	12	7.69	1		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	32602565	4	37.50	3	A6NLZ2|O94937|Q2M3S9|Q9NZG8|Q9NZW0|Q9NZW3	Missense_Mutation	SNP	HMMPfam_GED,HMMSmart_SM00302	p.C251S	ENST00000342314.5	37	c.752	CCDS45211.1	15																																																																																			-	NULL		0.637	GOLGA8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC728770	protein_coding	OTTHUMT00000251739.2	G	NM_001023567		32602565	+1	pseudogene	XM_001718857.1	genbank	human	model	54_36p	missense	SNP	0.002	C
OTOA	146183	genome.wustl.edu	37	16	21742187	21742187	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2804-03B-01W-0728-08	TCGA-AB-2804-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	3b3597ef-18f7-48a0-a39a-3a9e09f0a1d7	cc098a35-5f3d-460b-9d1c-f37f513dfc21	g.chr16:21742187C>T	ENST00000286149.4	+	20	2280	c.2279C>T	c.(2278-2280)aCg>aTg	p.T760M	OTOA_ENST00000388958.3_Missense_Mutation_p.T746M|OTOA_ENST00000388956.4_Missense_Mutation_p.T667M|OTOA_ENST00000388957.3_Missense_Mutation_p.T422M			Q7RTW8	OTOAN_HUMAN	otoancorin	760					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)		p.T746M(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GCCGAGACCACGAAGGACTTG	0.453																																						dbGAP											1	Substitution - Missense(1)	breast(1)	16											93.0	75.0	81.0					16																	21742187		2195	4275	6470	21649688	SO:0001583	missense	0			AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.2279C>T	16.37:g.21742187C>T	ENSP00000286149:p.Thr760Met	Somatic	60	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	21649688	174	38.95	111	A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	NULL	p.T746M	ENST00000286149.4	37	c.2237		16	.	.	.	.	.	.	.	.	.	.	C	2.314	-0.357267	0.05138	.	.	ENSG00000155719	ENST00000388958;ENST00000286149;ENST00000388956;ENST00000388957;ENST00000338456	T;T;T;T	0.65178	-0.14;-0.14;-0.13;-0.11	4.11	1.04	0.20106	.	0.424357	0.23971	N	0.042773	T	0.45577	0.1349	L	0.35723	1.085	0.09310	N	1	B;B;B;B	0.31625	0.332;0.332;0.049;0.332	B;B;B;B	0.30782	0.12;0.082;0.02;0.12	T	0.31447	-0.9943	10	0.45353	T	0.12	0.0027	6.1383	0.20245	0.0:0.6661:0.0:0.3339	.	760;667;422;746	Q7RTW8;B3KWU3;Q7RTW8-2;E9PF51	OTOAN_HUMAN;.;.;.	M	746;760;667;422;155	ENSP00000373610:T746M;ENSP00000286149:T760M;ENSP00000373608:T667M;ENSP00000373609:T422M	ENSP00000286149:T760M	T	+	2	0	OTOA	21649688	0.000000	0.05858	0.000000	0.03702	0.337000	0.28794	-0.131000	0.10482	0.137000	0.18759	-0.192000	0.12808	ACG	-	NULL		0.453	OTOA-003	KNOWN	basic	protein_coding	OTOA	protein_coding	OTTHUMT00000430021.1	C			21649688	+1	no_errors	NM_144672.3	genbank	human	provisional	54_36p	missense	SNP	0.021	T
HSPB6	126393	genome.wustl.edu	37	19	36249111	36249111	+	5'Flank	SNP	C	C	T	rs372100420		TCGA-AB-2804-03B-01W-0728-08	TCGA-AB-2804-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	3b3597ef-18f7-48a0-a39a-3a9e09f0a1d7	cc098a35-5f3d-460b-9d1c-f37f513dfc21	g.chr19:36249111C>T	ENST00000592984.1	-	0	0				C19orf55_ENST00000537459.1_5'UTR|C19orf55_ENST00000544099.1_5'UTR|C19orf55_ENST00000421853.2_5'UTR|HSPB6_ENST00000004982.3_5'Flank|AC002398.12_ENST00000587767.1_RNA|C19orf55_ENST00000396908.4_5'UTR|HSPB6_ENST00000587965.1_5'Flank|C19orf55_ENST00000536950.1_5'UTR			O14558	HSPB6_HUMAN	heat shock protein, alpha-crystallin-related, B6						regulation of muscle contraction (GO:0006937)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)			lung(1)	1	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CGGAGGGAGCCGCGGGATGGA	0.682																																						dbGAP											0			19											11.0	16.0	14.0					19																	36249111		1976	4120	6096	40940951	SO:0001631	upstream_gene_variant	0			AJ278121	CCDS12475.1	19q13.13	2014-06-12			ENSG00000004776	ENSG00000004776		"""Heat shock proteins / HSPB"""	26511	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 91"""	610695				12820654, 14717697	Standard	NM_144617		Approved	FLJ32389, Hsp20, PPP1R91	uc002obn.2	O14558	OTTHUMG00000048122		19.37:g.36249111C>T	Exception_encountered	Somatic	19	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	40940951	50	27.54	19	O14551|Q6NVI3|Q96MG9	Missense_Mutation	SNP	NULL	p.R25C	ENST00000592984.1	37	c.73	CCDS12475.1	19																																																																																			-	NULL		0.682	HSPB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf55	protein_coding	OTTHUMT00000109498.3	C	NM_144617		40940951	+1	no_errors	ENST00000396911	ensembl	human	known	54_36p	missense	SNP	0.000	T
LILRB2	10288	genome.wustl.edu	37	19	54782837	54782837	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2804-03B-01W-0728-08	TCGA-AB-2804-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	3b3597ef-18f7-48a0-a39a-3a9e09f0a1d7	cc098a35-5f3d-460b-9d1c-f37f513dfc21	g.chr19:54782837C>T	ENST00000391749.4	-	6	1056	c.785G>A	c.(784-786)cGt>cAt	p.R262H	LILRB2_ENST00000391748.1_Missense_Mutation_p.R262H|LILRB2_ENST00000434421.1_Missense_Mutation_p.R146H|LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000391746.1_Missense_Mutation_p.R262H|LILRB2_ENST00000314446.5_Missense_Mutation_p.R262H	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	262	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCGAAGGTCACGTTCCCCCTC	0.647																																						dbGAP											0			19											83.0	84.0	83.0					19																	54782837		2203	4300	6503	59474649	SO:0001583	missense	0			AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.785G>A	19.37:g.54782837C>T	ENSP00000375629:p.Arg262His	Somatic	24	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	59474649	35	33.96	18	A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin	p.R262H	ENST00000391749.4	37	c.785	CCDS12886.1	19	.	.	.	.	.	.	.	.	.	.	C	5.440	0.266344	0.10294	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746;ENST00000434421	T;T;T;T;T	0.00730	5.77;5.77;5.77;5.77;5.77	2.6	-5.2	0.02823	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.678040	0.00805	N	0.001445	T	0.00552	0.0018	N	0.05383	-0.06	0.09310	N	1	B;B;B	0.18166	0.024;0.013;0.026	B;B;B	0.22753	0.013;0.014;0.041	T	0.47573	-0.9107	10	0.11485	T	0.65	.	6.8001	0.23746	0.3059:0.2406:0.4535:0.0	.	262;279;262	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	H	262;262;262;262;146	ENSP00000375628:R262H;ENSP00000319960:R262H;ENSP00000375629:R262H;ENSP00000375626:R262H;ENSP00000410117:R146H	ENSP00000319960:R262H	R	-	2	0	LILRB2	59474649	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-6.120000	0.00080	-1.948000	0.01033	-0.507000	0.04495	CGT	-	HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin		0.647	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LILRB2	protein_coding	OTTHUMT00000139510.1	C			59474649	-1	no_errors	NM_005874.2	genbank	human	reviewed	54_36p	missense	SNP	0.000	T
ABTB1	80325	genome.wustl.edu	37	3	127396114	127396115	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AB-2804-03B-01W-0728-08	TCGA-AB-2804-11B-01W-0728-08	-	-	-	C	-	-	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	3b3597ef-18f7-48a0-a39a-3a9e09f0a1d7	cc098a35-5f3d-460b-9d1c-f37f513dfc21	g.chr3:127396114_127396115insC	ENST00000232744.8	+	8	833_834	c.747_748insC	c.(748-750)cccfs	p.P250fs	ABTB1_ENST00000393363.3_Frame_Shift_Ins_p.P108fs|ABTB1_ENST00000468137.1_Frame_Shift_Ins_p.P108fs|ABTB1_ENST00000453791.2_Frame_Shift_Ins_p.P108fs					ankyrin repeat and BTB (POZ) domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						ATTGTGCCCTGCCCCCCGAGCT	0.653																																						dbGAP											0			3							,	8,4228		0,8,2110					,	4.6	1.0			17	5,8197		0,5,4096	no	frameshift,frameshift	ABTB1	NM_172027.2,NM_032548.3	,	0,13,6206	A1A1,A1R,RR		0.061,0.1889,0.1045	,	,		13,12425				128878805	SO:0001589	frameshift_variant	0			AB053324	CCDS3045.1, CCDS46901.1	3q21	2013-01-10			ENSG00000114626	ENSG00000114626		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	18275	protein-coding gene	gene with protein product		608308				10891360, 11494141	Standard	NM_172027		Approved	BPOZ, EF1ABP, Btb3, BTBD21	uc003ejt.3	Q969K4	OTTHUMG00000159636	ENST00000232744.8:c.753dupC	3.37:g.127396120_127396120dupC	ENSP00000232744:p.Pro250fs	Somatic	12	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	128878804	20	16.67	4		Frame_Shift_Ins	INS	HMMSmart_SM00225,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,superfamily_POZ domain,HMMPfam_BTB	p.E251fs	ENST00000232744.8	37	c.747_748	CCDS3045.1	3																																																																																			-	NULL		0.653	ABTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABTB1	protein_coding	OTTHUMT00000356595.1	-	NM_172027		128878805	+1	no_errors	NM_172027.2	genbank	human	reviewed	54_36p	frame_shift_ins	INS	1.000:1.000	C
