#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
Unknown	0	genome.wustl.edu	37	X	95228569	95228569	+	IGR	SNP	G	G	A			TCGA-AB-2997-03A-01D-0739-09	TCGA-AB-2997-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	5687e321-0c36-4a38-a4c5-d7a26171ac1c	d2461e36-f349-4f2b-ba07-92b745c07675	g.chrX:95228569G>A								RNA5SP510 (391408 upstream) : RN7SL379P (49789 downstream)																							TGGAAATTACGCAGTTAGCGG	0.458																																						dbGAP											0			X																																								95115225	SO:0001628	intergenic_variant	0																															X.37:g.95228569G>A		Somatic	958	6.08	62		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	95115225	399	43.64	309		RNA	SNP	-	NULL		37	NULL		X																																																																																			-	-	0	0.458					LOC648927			G			95115225	-1	pseudogene	XR_038906.1	genbank	human	model	54_36p	rna	SNP	0.998	A
SLC30A6	55676	genome.wustl.edu	37	2	32445463	32445463	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2997-03A-01D-0739-09	TCGA-AB-2997-11A-01D-0739-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	5687e321-0c36-4a38-a4c5-d7a26171ac1c	d2461e36-f349-4f2b-ba07-92b745c07675	g.chr2:32445463A>G	ENST00000282587.5	+	14	1104	c.1067A>G	c.(1066-1068)cAt>cGt	p.H356R	SLC30A6_ENST00000379343.2_Missense_Mutation_p.H396R|SLC30A6_ENST00000435660.1_Missense_Mutation_p.H333R|SLC30A6_ENST00000538303.1_Missense_Mutation_p.H327R|SLC30A6_ENST00000406369.1_Missense_Mutation_p.H282R|SLC30A6_ENST00000357055.3_Missense_Mutation_p.H159R	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	356					cellular protein metabolic process (GO:0044267)|Golgi to endosome transport (GO:0006895)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	zinc ion transmembrane transporter activity (GO:0005385)	p.H356R(3)		endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTTTCAGATCATCACGTAATC	0.413																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	2											151.0	135.0	140.0					2																	32445463		2203	4300	6503	32298967	SO:0001583	missense	0			AK055663	CCDS1780.1, CCDS54341.1, CCDS54342.1, CCDS54343.1	2p22.3	2013-05-22			ENSG00000152683	ENSG00000152683		"""Solute carriers"""	19305	protein-coding gene	gene with protein product		611148					Standard	NM_017964		Approved	FLJ31101, ZNT6	uc002rof.2	Q6NXT4	OTTHUMG00000128456	ENST00000282587.5:c.1067A>G	2.37:g.32445463A>G	ENSP00000282587:p.His356Arg	Somatic	926	6.37	63		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	32298967	569	42.31	418	A5YM45|B7Z901|Q8N5C9|Q96NC3	Missense_Mutation	SNP	HMMPfam_Cation_efflux	p.H356R	ENST00000282587.5	37	c.1067	CCDS1780.1	2	.	.	.	.	.	.	.	.	.	.	A	15.81	2.943978	0.53079	.	.	ENSG00000152683	ENST00000379343;ENST00000282587;ENST00000435660;ENST00000538303;ENST00000357055;ENST00000406369	T;T	0.76968	-1.06;-1.06	5.74	5.74	0.90152	.	0.202582	0.53938	D	0.000054	T	0.78572	0.4304	L	0.27053	0.805	0.43430	D	0.995591	D;P;D;P	0.59357	0.966;0.589;0.985;0.93	P;B;P;B	0.56916	0.543;0.288;0.809;0.289	T	0.80779	-0.1230	10	0.56958	D	0.05	-11.387	15.6945	0.77484	1.0:0.0:0.0:0.0	.	327;333;396;356	B7Z901;Q6NXT4-3;Q6NXT4-2;Q6NXT4	.;.;.;ZNT6_HUMAN	R	396;356;333;327;159;282	ENSP00000282587:H356R;ENSP00000440678:H327R	ENSP00000282587:H356R	H	+	2	0	SLC30A6	32298967	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	6.344000	0.72991	2.182000	0.69389	0.482000	0.46254	CAT	-	NULL		0.413	SLC30A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A6	protein_coding	OTTHUMT00000250254.2	A			32298967	+1	no_errors	NM_017964.2	genbank	human	provisional	54_36p	missense	SNP	1.000	G
CUL3	8452	genome.wustl.edu	37	2	225449691	225449691	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2997-03A-01D-0739-09	TCGA-AB-2997-11A-01D-0739-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	5687e321-0c36-4a38-a4c5-d7a26171ac1c	d2461e36-f349-4f2b-ba07-92b745c07675	g.chr2:225449691C>A	ENST00000264414.4	-	1	374	c.36G>T	c.(34-36)aaG>aaT	p.K12N	CUL3_ENST00000344951.4_Missense_Mutation_p.K12N	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	12					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)	p.K12N(3)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TCTTGGTGTCCTTCCGGCTGC	0.716																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	2											38.0	35.0	36.0					2																	225449691		2200	4300	6500	225157935	SO:0001583	missense	0			U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.36G>T	2.37:g.225449691C>A	ENSP00000264414:p.Lys12Asn	Somatic	199	7.44186046511628	16		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	225157935	102	47.4226804123711	92	A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Missense_Mutation	SNP	"HMMPfam_Cullin,PatternScan_CULLIN_1,HMMSmart_SM00182,superfamily_Cullin homology domain,superfamily_Cullin repeat,HMMPfam_Cullin_Nedd8,superfamily_""Winged helix"" DNA-binding domain"	p.K12N	ENST00000264414.4	37	c.36	CCDS2462.1	2	.	.	.	.	.	.	.	.	.	.	C	17.12	3.308017	0.60305	.	.	ENSG00000036257	ENST00000264414;ENST00000344951	T;T	0.70282	-0.47;-0.38	2.95	2.95	0.34219	.	0.000000	0.64402	U	0.000001	T	0.62624	0.2443	N	0.14661	0.345	0.25099	N	0.990794	P;P	0.42039	0.769;0.651	P;B	0.49332	0.607;0.163	T	0.60136	-0.7322	10	0.72032	D	0.01	.	12.5629	0.56293	0.0:1.0:0.0:0.0	.	12;12	Q13618-3;Q13618	.;CUL3_HUMAN	N	12	ENSP00000264414:K12N;ENSP00000343601:K12N	ENSP00000264414:K12N	K	-	3	2	CUL3	225157935	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.691000	0.54720	1.170000	0.42753	0.313000	0.20887	AAG	-	NULL		0.716	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL3	protein_coding	OTTHUMT00000256871.2	C			225157935	-1	no_errors	NM_003590.3	genbank	human	validated	54_36p	missense	SNP	1.000	A
PMS2CL	441194	genome.wustl.edu	37	7	6760727	6760727	+	RNA	SNP	A	A	G			TCGA-AB-2997-03A-01D-0739-09	TCGA-AB-2997-11A-01D-0739-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	5687e321-0c36-4a38-a4c5-d7a26171ac1c	d2461e36-f349-4f2b-ba07-92b745c07675	g.chr7:6760727A>G	ENST00000486256.1	+	0	346					NR_002217.1		Q68D20	PMS2L_HUMAN	PMS2 C-terminal like pseudogene																		GCTGAGCCCCATGTGCCGCTC	0.577																																						dbGAP											0			7																																								6727252			0			BC041364		7p22.1	2010-10-26			ENSG00000187953	ENSG00000187953			30061	pseudogene	pseudogene	"""postmeiotic segregation increased 2 pseudogene 13"""					15256438, 17253626	Standard	NR_002217		Approved	PMS2P13	uc011jxb.1	Q68D20	OTTHUMG00000151857		7.37:g.6760727A>G		Somatic	1306	7.61	108		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	6727252	343	41.13	241	B4DK88|Q764P1	Missense_Mutation	SNP	NULL	p.W105R	ENST00000486256.1	37	c.313		7																																																																																			-	NULL		0.577	PMS2CL-002	KNOWN	basic	processed_transcript	LOC100134687	pseudogene	OTTHUMT00000324193.1	A	NR_002217		6727252	-1	no_start_codon:pseudogene:no_stop_codon	XM_001725648.1	genbank	human	model	54_36p	missense	SNP	0.000	G
DOK2	9046	genome.wustl.edu	37	8	21770015	21770015	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2997-03A-01D-0739-09	TCGA-AB-2997-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	5687e321-0c36-4a38-a4c5-d7a26171ac1c	d2461e36-f349-4f2b-ba07-92b745c07675	g.chr8:21770015G>A	ENST00000276420.4	-	2	328	c.70C>T	c.(70-72)Cgc>Tgc	p.R24C	DOK2_ENST00000544659.1_5'UTR	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	24	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|leukocyte migration (GO:0050900)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	receptor signaling protein activity (GO:0005057)	p.R24C(3)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		CCGAAGCGGCGCCATTTCTGT	0.706																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	8											5.0	6.0	5.0					8																	21770015		2083	4062	6145	21825961	SO:0001583	missense	0			AF034970	CCDS6016.1	8p21.3	2008-08-07	2002-08-29		ENSG00000147443	ENSG00000147443			2991	protein-coding gene	gene with protein product		604997	"""docking protein 2, 56kD"""			9478921, 14645010	Standard	NM_003974		Approved	p56dok-2, Dok-2	uc003wzy.1	O60496	OTTHUMG00000131075	ENST00000276420.4:c.70C>T	8.37:g.21770015G>A	ENSP00000276420:p.Arg24Cys	Somatic	218	7.23404255319149	17		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	21825961	165	45	135	Q8N5A4	Missense_Mutation	SNP	HMMPfam_PH,HMMSmart_PH,HMMPfam_IRS,HMMSmart_PTBI,superfamily_SSF50729	p.R24C	ENST00000276420.4	37	c.70	CCDS6016.1	8	.	.	.	.	.	.	.	.	.	.	G	18.41	3.617929	0.66787	.	.	ENSG00000147443	ENST00000276420;ENST00000523932	T;T	0.54675	1.52;0.56	5.17	4.23	0.50019	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.084070	0.46442	D	0.000298	T	0.65903	0.2736	M	0.69358	2.11	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.61722	0.893;0.816	T	0.69914	-0.5016	10	0.87932	D	0	.	12.5279	0.56098	0.0:0.0:0.6967:0.3033	.	24;24	O60496;A8K7W1	DOK2_HUMAN;.	C	24	ENSP00000276420:R24C;ENSP00000429224:R24C	ENSP00000276420:R24C	R	-	1	0	DOK2	21825961	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	1.398000	0.34554	2.414000	0.81942	0.561000	0.74099	CGC	-	HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729		0.706	DOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOK2	protein_coding	OTTHUMT00000253735.3	G	NM_003974		21825961	-1	no_errors	NM_003974.2	genbank	human	reviewed	54_36p	missense	SNP	0.996	A
MUC5B	727897	genome.wustl.edu	37	11	1272708	1272708	+	Silent	SNP	C	C	T	rs200111607	byFrequency	TCGA-AB-2997-03A-01D-0739-09	TCGA-AB-2997-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	5687e321-0c36-4a38-a4c5-d7a26171ac1c	d2461e36-f349-4f2b-ba07-92b745c07675	g.chr11:1272708C>T	ENST00000529681.1	+	31	14656	c.14598C>T	c.(14596-14598)acC>acT	p.T4866T	MUC5B_ENST00000447027.1_Silent_p.T4869T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4866	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.T4821T(3)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACGGCCACCGCCTCCTCCA	0.652																																						dbGAP											3	Substitution - coding silent(3)	haematopoietic_and_lymphoid_tissue(3)	11						C		7,4273		0,7,2133	69.0	89.0	82.0		14598	-0.6	0.0	11		82	68,8408		0,68,4170	no	coding-synonymous	MUC5B	NM_002458.2		0,75,6303	TT,TC,CC		0.8023,0.1636,0.588		4866/5763	1272708	75,12681	2140	4238	6378	1229284	SO:0001819	synonymous_variant	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.14598C>T	11.37:g.1272708C>T		Somatic	210	13.5802469135802	33		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	1229284	21	92.6056338028169	263	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1,HMMPfam_VWD,HMMSmart_SM00216,superfamily_Serine proterase inhibitors,HMMSmart_SM00041,PatternScan_CTCK_1,HMMPfam_Cys_knot,HMMSmart_SM00215,superfamily_PMP inhibitors,HMMPfam_C8,HMMPfam_TIL	p.T4869	ENST00000529681.1	37	c.14607	CCDS44515.2	11																																																																																			-	NULL		0.652	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	protein_coding	OTTHUMT00000390041.2	C	XM_001126093		1229284	+1	no_errors	NM_002458.1	genbank	human	validated	54_36p	silent	SNP	0.000	T
CNTN5	53942	genome.wustl.edu	37	11	99944987	99944987	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2997-03A-01D-0739-09	TCGA-AB-2997-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	5687e321-0c36-4a38-a4c5-d7a26171ac1c	d2461e36-f349-4f2b-ba07-92b745c07675	g.chr11:99944987C>T	ENST00000524871.1	+	13	1831	c.1541C>T	c.(1540-1542)tCt>tTt	p.S514F	CNTN5_ENST00000279463.3_Missense_Mutation_p.S514F|CNTN5_ENST00000527185.1_Missense_Mutation_p.S514F|CNTN5_ENST00000418526.2_Missense_Mutation_p.S440F|CNTN5_ENST00000528682.1_Missense_Mutation_p.S514F	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	514	Ig-like C2-type 5.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.S514F(3)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CCAACCATCTCTTGGAAGAAA	0.363																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	11											63.0	62.0	62.0					11																	99944987		1832	4081	5913	99450197	SO:0001583	missense	0			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.1541C>T	11.37:g.99944987C>T	ENSP00000435637:p.Ser514Phe	Somatic	566	7.51633986928105	46		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	99450197	352	45.1713395638629	290	A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_V-set,HMMPfam_ig,superfamily_Immunoglobulin	p.S514F	ENST00000524871.1	37	c.1541	CCDS53696.1	11	.	.	.	.	.	.	.	.	.	.	C	17.87	3.495067	0.64186	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51;-0.51	5.51	5.51	0.81932	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.303968	0.36854	N	0.002377	T	0.80701	0.4673	M	0.78049	2.395	0.43574	D	0.995901	P;P;P	0.41232	0.743;0.565;0.743	P;B;P	0.50136	0.632;0.377;0.632	T	0.81090	-0.1090	10	0.49607	T	0.09	.	18.4704	0.90773	0.0:1.0:0.0:0.0	.	514;440;514	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	F	514;514;514;440;514	ENSP00000433575:S514F;ENSP00000436185:S514F;ENSP00000435637:S514F;ENSP00000393229:S440F;ENSP00000279463:S514F	ENSP00000279463:S514F	S	+	2	0	CNTN5	99450197	0.994000	0.37717	1.000000	0.80357	0.993000	0.82548	2.544000	0.45761	2.592000	0.87571	0.558000	0.71614	TCT	-	HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin		0.363	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTN5	protein_coding	OTTHUMT00000395148.2	C	NM_014361		99450197	+1	no_errors	NM_014361.2	genbank	human	reviewed	54_36p	missense	SNP	0.995	T
TPTE2	93492	genome.wustl.edu	37	13	20012252	20012252	+	Missense_Mutation	SNP	C	C	T	rs140738972		TCGA-AB-2997-03A-01D-0739-09	TCGA-AB-2997-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	5687e321-0c36-4a38-a4c5-d7a26171ac1c	d2461e36-f349-4f2b-ba07-92b745c07675	g.chr13:20012252C>T	ENST00000400230.2	-	14	1059	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	TPTE2_ENST00000382977.4_Missense_Mutation_p.E339K|TPTE2_ENST00000382978.1_Missense_Mutation_p.E299K|TPTE2_ENST00000400103.2_Missense_Mutation_p.E228K|TPTE2_ENST00000382975.4_Missense_Mutation_p.E299K|TPTE2_ENST00000457266.2_Missense_Mutation_p.E228K|TPTE2_ENST00000390680.2_Missense_Mutation_p.E262K|TPTE2_ENST00000255310.6_Missense_Mutation_p.E262K			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	339	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.E262K(5)|p.E339K(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AAAAATATTTCGGAGGCAATA	0.368																																						dbGAP											6	Substitution - Missense(6)	haematopoietic_and_lymphoid_tissue(3)|lung(2)|skin(1)	13						C	LYS/GLU,LYS/GLU,LYS/GLU	1,4405		0,1,2202	59.0	59.0	59.0		682,784,1015	1.5	0.0	13	dbSNP_134	59	0,8600		0,0,4300	no	missense,missense,missense	TPTE2	NM_001141968.1,NM_130785.3,NM_199254.2	56,56,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	228/412,262/446,339/523	20012252	1,13005	2203	4300	6503	18910252	SO:0001583	missense	0			AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.1015G>A	13.37:g.20012252C>T	ENSP00000383089:p.Glu339Lys	Somatic	381	7.74818401937046	32		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	18910252	213	43.6507936507937	165	A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II,superfamily_Voltage-gated potassium channels	p.E339K	ENST00000400230.2	37	c.1015	CCDS45014.1	13	.	.	.	.	.	.	.	.	.	.	c	7.277	0.608263	0.14002	2.27E-4	0.0	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	D;D;D;D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94	2.41	1.52	0.23074	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.227351	0.42964	D	0.000636	T	0.80449	0.4625	L	0.37561	1.115	0.09310	N	1	P;P;D	0.53151	0.925;0.589;0.958	P;B;P	0.51055	0.455;0.068;0.657	T	0.70117	-0.4960	9	.	.	.	-7.5063	6.872	0.24125	0.0:0.6556:0.3444:0.0	.	228;262;339	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	K	299;228;339;262;262;339;299;228;339;208	ENSP00000372438:E299K;ENSP00000382974:E228K;ENSP00000383089:E339K;ENSP00000255310:E262K;ENSP00000375098:E262K;ENSP00000372437:E339K;ENSP00000372435:E299K;ENSP00000442218:E228K	.	E	-	1	0	TPTE2	18910252	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.023000	0.13533	0.540000	0.28808	0.461000	0.40582	GAA	-	superfamily_(Phosphotyrosine protein) phosphatases II		0.368	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	TPTE2	protein_coding		C	NM_199254		18910252	-1	no_errors	NM_199254.1	genbank	human	validated	54_36p	missense	SNP	0.271	T
DIS3	22894	genome.wustl.edu	37	13	73346338	73346338	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2997-03A-01D-0739-09	TCGA-AB-2997-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	5687e321-0c36-4a38-a4c5-d7a26171ac1c	d2461e36-f349-4f2b-ba07-92b745c07675	g.chr13:73346338C>T	ENST00000377767.4	-	10	1562	c.1462G>A	c.(1462-1464)Gat>Aat	p.D488N	DIS3_ENST00000545453.1_Missense_Mutation_p.D326N|DIS3_ENST00000377780.4_Missense_Mutation_p.D458N	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	488					CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)	p.D488N(4)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		TGTAGAGCATCGTCTATATCA	0.363										Multiple Myeloma(4;0.011)																												dbGAP											4	Substitution - Missense(4)	haematopoietic_and_lymphoid_tissue(3)|lung(1)	13											114.0	113.0	113.0					13																	73346338		2203	4300	6503	72244339	SO:0001583	missense	0			AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"""exosome component 11"""	607533	"""KIAA1008"", ""DIS3 mitotic control homolog (S. cerevisiae)"""	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.1462G>A	13.37:g.73346338C>T	ENSP00000366997:p.Asp488Asn	Somatic	714	4.55	34		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	72244339	519	44.37	414	A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Missense_Mutation	SNP	HMMPfam_RNB,PatternScan_RIBONUCLEASE_II,HMMSmart_SM00670,superfamily_PIN domain-like	p.D488N	ENST00000377767.4	37	c.1462	CCDS9447.1	13	.	.	.	.	.	.	.	.	.	.	C	34	5.396850	0.96009	.	.	ENSG00000083520	ENST00000377767;ENST00000377780;ENST00000545453	T;T;T	0.65549	-0.16;-0.16;-0.16	5.48	5.48	0.80851	Ribonuclease II/R (2);	0.000000	0.85682	D	0.000000	D	0.89511	0.6736	H	0.99740	4.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93998	0.7273	10	0.87932	D	0	.	19.3194	0.94231	0.0:1.0:0.0:0.0	.	458;488	Q9Y2L1-2;Q9Y2L1	.;RRP44_HUMAN	N	488;458;326	ENSP00000366997:D488N;ENSP00000367011:D458N;ENSP00000440058:D326N	ENSP00000366997:D488N	D	-	1	0	DIS3	72244339	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	6.008000	0.70739	2.722000	0.93159	0.563000	0.77884	GAT	-	HMMPfam_RNB		0.363	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIS3	protein_coding	OTTHUMT00000045250.2	C	NM_014953		72244339	-1	no_errors	NM_014953.1	genbank	human	validated	54_36p	missense	SNP	1.000	T
GLRX5	51218	genome.wustl.edu	37	14	95999809	95999809	+	5'Flank	SNP	C	C	T	rs374745275		TCGA-AB-2997-03A-01D-0739-09	TCGA-AB-2997-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	5687e321-0c36-4a38-a4c5-d7a26171ac1c	d2461e36-f349-4f2b-ba07-92b745c07675	g.chr14:95999809C>T	ENST00000331334.4	+	0	0				SNHG10_ENST00000500370.2_RNA|SCARNA13_ENST00000516672.1_RNA|SNHG10_ENST00000553559.1_RNA|SNHG10_ENST00000554169.1_RNA|SNHG10_ENST00000555866.1_RNA	NM_016417.2	NP_057501.2	Q86SX6	GLRX5_HUMAN	glutaredoxin 5						cell redox homeostasis (GO:0045454)|hemopoiesis (GO:0030097)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|protein disulfide oxidoreductase activity (GO:0015035)			large_intestine(1)|lung(1)	2		all_cancers(154;0.135)		Epithelial(152;0.133)|COAD - Colon adenocarcinoma(157;0.21)|all cancers(159;0.212)		TCATTATCACCGTGGCAACAG	0.458																																						dbGAP											0			14						C		0,1752		0,0,876	204.0	199.0	200.0			5.4	1.0	14		200	1,3981		0,1,1990	no	near-gene-5				0,1,2866	TT,TC,CC		0.0251,0.0,0.0174			95999809	1,5733	876	1991	2867	95069562	SO:0001631	upstream_gene_variant	0			AF113691	CCDS9936.1	14q32.2	2007-08-16	2007-08-16	2005-11-11		ENSG00000182512			20134	protein-coding gene	gene with protein product		609588	"""chromosome 14 open reading frame 87"", ""glutaredoxin 5 homolog (S. cerevisiae)"""	C14orf87			Standard	NM_016417		Approved	PR01238, GRX5	uc001yem.1	Q86SX6			14.37:g.95999809C>T	Exception_encountered	Somatic	502	8.05860805860806	44		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	95069562	223	55.4	277	Q0X088|Q3YML0|Q86WY3|Q8IZ54	RNA	SNP	-	NULL	ENST00000331334.4	37	NULL	CCDS9936.1	14																																																																																			-	-		0.458	GLRX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNHG10	protein_coding	OTTHUMT00000414550.1	C			95069562	-1	no_errors	NR_003138.2	genbank	human	validated	54_36p	rna	SNP	1.000	T
DNAH9	1770	genome.wustl.edu	37	17	11572805	11572805	+	Missense_Mutation	SNP	T	T	G			TCGA-AB-2997-03A-01D-0739-09	TCGA-AB-2997-11A-01D-0739-09	T	T	T	G	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	5687e321-0c36-4a38-a4c5-d7a26171ac1c	d2461e36-f349-4f2b-ba07-92b745c07675	g.chr17:11572805T>G	ENST00000262442.4	+	17	3115	c.3047T>G	c.(3046-3048)cTc>cGc	p.L1016R	DNAH9_ENST00000454412.2_Missense_Mutation_p.L1016R	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1016	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.L1016R(3)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TATTCGTACCTCTATGTGGAG	0.532																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	17											106.0	100.0	102.0					17																	11572805		2203	4300	6503	11513530	SO:0001583	missense	0			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.3047T>G	17.37:g.11572805T>G	ENSP00000262442:p.Leu1016Arg	Somatic	1085	6.06	70		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	11513530	765	46.81	675	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	HMMSmart_SM00382,HMMPfam_Dynein_heavy,PatternScan_CPSASE_2,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_Spectrin repeat,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.L1016R	ENST00000262442.4	37	c.3047	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	T	14.82	2.650728	0.47362	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.33865	1.43;1.39	4.8	4.8	0.61643	.	0.000000	0.64402	D	0.000003	T	0.66307	0.2776	M	0.89968	3.075	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.75001	-0.3471	10	0.87932	D	0	.	14.5132	0.67802	0.0:0.0:0.0:1.0	.	1016	Q9NYC9	DYH9_HUMAN	R	1016	ENSP00000262442:L1016R;ENSP00000414874:L1016R	ENSP00000262442:L1016R	L	+	2	0	DNAH9	11513530	1.000000	0.71417	0.587000	0.28692	0.008000	0.06430	7.470000	0.80973	2.009000	0.58944	0.533000	0.62120	CTC	-	NULL		0.532	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	protein_coding	OTTHUMT00000252756.2	T	NM_001372		11513530	+1	no_errors	NM_001372.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
RP11-123I22.1	0	genome.wustl.edu	37	18	76264686	76264686	+	lincRNA	SNP	C	C	G	rs373686124		TCGA-AB-2997-03A-01D-0739-09	TCGA-AB-2997-11A-01D-0739-09	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	5687e321-0c36-4a38-a4c5-d7a26171ac1c	d2461e36-f349-4f2b-ba07-92b745c07675	g.chr18:76264686C>G	ENST00000581634.1	+	0	0																											AGGATGCCAGCCCGACAGAGC	0.632																																						dbGAP											0			18																																								74365674			0																															18.37:g.76264686C>G		Somatic	21	4.55	1		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	74365674	9	0.00	0		Missense_Mutation	SNP	NULL	p.S325R	ENST00000581634.1	37	c.975		18																																																																																			-	NULL		0.632	RP11-123I22.1-001	KNOWN	basic	lincRNA	LOC100132713	lincRNA	OTTHUMT00000446088.1	C			74365674	+1	no_errors	XM_001714438.1	genbank	human	model	54_36p	missense	SNP	0.005	G
PSG7	5676	genome.wustl.edu	37	19	43439829	43439829	+	RNA	SNP	G	G	T			TCGA-AB-2997-03A-01D-0739-09	TCGA-AB-2997-11A-01D-0739-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	5687e321-0c36-4a38-a4c5-d7a26171ac1c	d2461e36-f349-4f2b-ba07-92b745c07675	g.chr19:43439829G>T	ENST00000406070.2	-	0	253				PSG7_ENST00000446844.3_RNA|PSG7_ENST00000471557.1_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				TGGACAAGTAGAAGAACATCC	0.473																																						dbGAP											0			19											146.0	153.0	151.0					19																	43439829		2201	4296	6497	48131669			0					19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43439829G>T		Somatic	142	5.33333333333333	8		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	48131669	95	52.020202020202	103	Q15232	Missense_Mutation	SNP	HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,HMMPfam_ig,superfamily_Immunoglobulin	p.L53I	ENST00000406070.2	37	c.157		19																																																																																			-	HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin		0.473	PSG7-001	KNOWN	basic	polymorphic_pseudogene	PSG7	polymorphic_pseudogene	OTTHUMT00000321431.2	G	NM_001206650		48131669	-1	pseudogene	NM_002783.2	genbank	human	reviewed	54_36p	missense	SNP	0.003	T
MYBL2	4605	genome.wustl.edu	37	20	42343911	42343911	+	Silent	SNP	G	G	A			TCGA-AB-2997-03A-01D-0739-09	TCGA-AB-2997-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	5687e321-0c36-4a38-a4c5-d7a26171ac1c	d2461e36-f349-4f2b-ba07-92b745c07675	g.chr20:42343911G>A	ENST00000217026.4	+	13	2089	c.1962G>A	c.(1960-1962)acG>acA	p.T654T	MYBL2_ENST00000396863.4_Silent_p.T630T	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	654					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T654T(3)		endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GCCACTTCACGACACCTGCCC	0.617																																						dbGAP											3	Substitution - coding silent(3)	haematopoietic_and_lymphoid_tissue(3)	20											94.0	104.0	100.0					20																	42343911		2203	4300	6503	41777325	SO:0001819	synonymous_variant	0				CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.1962G>A	20.37:g.42343911G>A		Somatic	362	9.95024875621891	40		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	41777325	232	44.6300715990453	187	B2RBS5|B7Z8D9|F8W6N6|Q53F07	Silent	SNP	HMMSmart_SM00717,superfamily_Homeodomain-like,HMMPfam_Myb_DNA-binding,HMMPfam_Cmyb_C	p.T654	ENST00000217026.4	37	c.1962	CCDS13322.1	20																																																																																			-	NULL		0.617	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBL2	protein_coding	OTTHUMT00000080408.1	G	NM_002466		41777325	+1	no_errors	NM_002466.2	genbank	human	reviewed	54_36p	silent	SNP	0.000	A
CELSR1	9620	genome.wustl.edu	37	22	46765662	46765662	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2997-03A-01D-0739-09	TCGA-AB-2997-11A-01D-0739-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	5687e321-0c36-4a38-a4c5-d7a26171ac1c	d2461e36-f349-4f2b-ba07-92b745c07675	g.chr22:46765662G>T	ENST00000262738.3	-	26	7798	c.7799C>A	c.(7798-7800)cCc>cAc	p.P2600H		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2600					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)	p.P2600H(3)		breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GCAGAAGTCGGGGTTCCCGTA	0.647																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	22											57.0	55.0	56.0					22																	46765662		2203	4300	6503	45144326	SO:0001583	missense	0			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.7799C>A	22.37:g.46765662G>T	ENSP00000262738:p.Pro2600His	Somatic	352	6.38297872340425	24		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	45144326	234	43.6144578313253	181	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	PatternScan_ASX_HYDROXYL,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,HMMSmart_SM00282,HMMPfam_HRM,HMMSmart_SM00008,HMMSmart_SM00179,HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_Cadherin-like,superfamily_EGF/Laminin	p.P2600H	ENST00000262738.3	37	c.7799	CCDS14076.1	22	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516413	0.85495	.	.	ENSG00000075275	ENST00000262738	T	0.43294	0.95	4.3	4.3	0.51218	GPCR, family 2-like (1);	0.000000	0.64402	U	0.000003	T	0.60051	0.2239	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.56547	-0.7961	10	0.21014	T	0.42	.	16.7331	0.85440	0.0:0.0:1.0:0.0	.	2600	Q9NYQ6	CELR1_HUMAN	H	2600	ENSP00000262738:P2600H	ENSP00000262738:P2600H	P	-	2	0	CELSR1	45144326	1.000000	0.71417	0.957000	0.39632	0.872000	0.50106	9.576000	0.98192	2.092000	0.63282	0.585000	0.79938	CCC	-	HMMPfam_7tm_2		0.647	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR1	protein_coding	OTTHUMT00000318037.1	G	NM_014246		45144326	-1	no_errors	NM_014246.1	genbank	human	reviewed	54_36p	missense	SNP	0.998	T
AKAP13	11214	genome.wustl.edu	37	15	86262345	86262351	+	Frame_Shift_Del	DEL	AAGATCA	AAGATCA	-			TCGA-AB-2997-03A-01D-0739-09	TCGA-AB-2997-11A-01D-0739-09	AAGATCA	AAGATCA	AAGATCA	-	AAGATCA	AAGATCA	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	5687e321-0c36-4a38-a4c5-d7a26171ac1c	d2461e36-f349-4f2b-ba07-92b745c07675	g.chr15:86262345_86262351delAAGATCA	ENST00000394518.2	+	23	6135_6141	c.6040_6046delAAGATCA	c.(6040-6048)aagatcatgfs	p.KIM2014fs	AKAP13_ENST00000361243.2_Frame_Shift_Del_p.KIM2018fs|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_Frame_Shift_Del_p.KIM259fs	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2014	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.|Interaction with ESR1.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.K2018fs*1(3)|p.K94fs*1(3)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CCGCACTCTCAAGATCATGAGTGGTGT	0.454																																					Melanoma(94;603 1453 3280 32295 32951)	dbGAP											6	Deletion - Frameshift(6)	haematopoietic_and_lymphoid_tissue(6)	15																																								84063355	SO:0001589	frameshift_variant	0			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.6040_6046delAAGATCA	15.37:g.86262345_86262351delAAGATCA	ENSP00000378026:p.Lys2014fs	Somatic	735	7.66331658291457	61		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	84063349	411	44.9799196787149	336	Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Frame_Shift_Del	DEL	HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain,HMMPfam_PH,HMMSmart_PH,superfamily_ANK,HMMPfam_C1_1,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,PatternScan_EF_HAND_1,HMMPfam_RII_binding_1,superfamily_SSF50729,superfamily_SSF57889	p.K2018fs	ENST00000394518.2	37	c.6052_6058	CCDS32319.1	15																																																																																			-	HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain		0.454	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	protein_coding	OTTHUMT00000417318.1	AAGATCA	NM_007200		84063355	+1	no_errors	NM_006738.4	genbank	human	reviewed	54_36p	frame_shift_del	DEL	1.000:1.000:1.000:1.000:1.000:1.000:1.000	-
