#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_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_EVS_AA	i_EVS_All	i_EVS_EA	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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	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_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
AFF2	2334	genome.wustl.edu	37	X	148039966	148039966	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A259-01A-11D-A16D-09	TCGA-A2-A259-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93febb0a-587c-47f2-9a59-117f7aa475c5	492d903f-0464-44a3-8984-39b13c6fbcf7	g.chrX:148039966C>T	ENST00000370460.2	+	12	3147	c.2668C>T	c.(2668-2670)Cac>Tac	p.H890Y	AFF2_ENST00000342251.3_Missense_Mutation_p.H857Y|AFF2_ENST00000286437.5_Missense_Mutation_p.H531Y|AFF2_ENST00000370457.5_Missense_Mutation_p.H857Y	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	890					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AGCCCCACCCCACAAGCCTCC	0.522																																						dbGAP											0													177.0	165.0	169.0					X																	148039966		2203	4300	6503	-	-	-	SO:0001583	missense	0			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.2668C>T	X.37:g.148039966C>T	ENSP00000359489:p.His890Tyr		A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.H890Y	ENST00000370460.2	37	c.2668	CCDS14684.1	X	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297383	0.60086	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	5.81	4.94	0.65067	.	0.803434	0.11389	N	0.569030	T	0.68458	0.3003	M	0.75615	2.305	0.36075	D	0.842374	P;P;P;P;P;P	0.35821	0.523;0.467;0.467;0.467;0.467;0.523	B;B;B;B;B;B	0.41440	0.357;0.244;0.244;0.244;0.244;0.357	T	0.71889	-0.4456	10	0.59425	D	0.04	.	12.1607	0.54103	0.3104:0.6896:0.0:0.0	.	531;855;857;851;880;890	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	Y	890;857;857;531	ENSP00000359489:H890Y;ENSP00000359486:H857Y;ENSP00000345459:H857Y;ENSP00000286437:H531Y	ENSP00000286437:H531Y	H	+	1	0	AFF2	147847666	0.924000	0.31332	0.966000	0.40874	0.877000	0.50540	2.315000	0.43752	1.177000	0.42855	0.600000	0.82982	CAC	AFF2	-	pfam_TF_AF4/FMR2	ENSG00000155966		0.522	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFF2	HGNC	protein_coding	OTTHUMT00000058673.2	84	0.00	0	C	NM_002025		148039966	148039966	+1	no_errors	ENST00000370460	ensembl	human	known	69_37n	missense	102	22.14	29	SNP	1.000	T
CEP70	80321	genome.wustl.edu	37	3	138290122	138290122	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A259-01A-11D-A16D-09	TCGA-A2-A259-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93febb0a-587c-47f2-9a59-117f7aa475c5	492d903f-0464-44a3-8984-39b13c6fbcf7	g.chr3:138290122C>T	ENST00000264982.3	-	4	412	c.146G>A	c.(145-147)aGa>aAa	p.R49K	CEP70_ENST00000478673.1_5'UTR|CEP70_ENST00000484888.1_Missense_Mutation_p.R49K|CEP70_ENST00000464035.1_Missense_Mutation_p.R49K|CEP70_ENST00000542237.1_Missense_Mutation_p.R29K|CEP70_ENST00000489254.1_Intron|CEP70_ENST00000481834.1_Missense_Mutation_p.R49K	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	49					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						GAGATCTGTTCTTTTGACTAG	0.303																																						dbGAP											0													74.0	72.0	73.0					3																	138290122		2202	4298	6500	-	-	-	SO:0001583	missense	0			AF202146	CCDS3102.1, CCDS75022.1, CCDS75023.1, CCDS75024.1	3q22.3	2014-02-20			ENSG00000114107	ENSG00000114107			29972	protein-coding gene	gene with protein product		614310				14654843	Standard	XM_005247802		Approved	BITE, FLJ13036	uc003esl.3	Q8NHQ1	OTTHUMG00000159891	ENST00000264982.3:c.146G>A	3.37:g.138290122C>T	ENSP00000264982:p.Arg49Lys		B7Z5I8|B7Z7E8|D3DNE9|F5GZX8|Q96B31|Q9H2C3|Q9H2Z1|Q9H940	Missense_Mutation	SNP	pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R49K	ENST00000264982.3	37	c.146	CCDS3102.1	3	.	.	.	.	.	.	.	.	.	.	C	1.812	-0.474502	0.04414	.	.	ENSG00000114107	ENST00000264982;ENST00000542237;ENST00000484888;ENST00000474781;ENST00000481834;ENST00000468900;ENST00000462419;ENST00000464035;ENST00000470159	T;T;T;T;T;T;T;T	0.42131	1.58;1.59;1.58;1.59;1.58;1.0;1.0;0.98	5.25	4.38	0.52667	.	0.371203	0.29225	N	0.012769	T	0.29976	0.0750	L	0.47716	1.5	0.19945	N	0.999946	B;B;B	0.16603	0.007;0.008;0.018	B;B;B	0.12156	0.005;0.007;0.007	T	0.29243	-1.0018	10	0.05833	T	0.94	-11.2185	9.4041	0.38451	0.0:0.9046:0.0:0.0954	.	29;49;49	F5GZX8;Q8NHQ1-2;Q8NHQ1	.;.;CEP70_HUMAN	K	49;29;49;31;49;28;29;49;49	ENSP00000264982:R49K;ENSP00000444128:R29K;ENSP00000419231:R49K;ENSP00000419833:R31K;ENSP00000417465:R49K;ENSP00000418131:R28K;ENSP00000417819:R29K;ENSP00000419743:R49K	ENSP00000264982:R49K	R	-	2	0	CEP70	139772812	0.730000	0.28100	0.672000	0.29872	0.555000	0.35460	1.122000	0.31295	1.432000	0.47375	0.655000	0.94253	AGA	CEP70	-	NULL	ENSG00000114107		0.303	CEP70-001	KNOWN	basic|CCDS	protein_coding	CEP70	HGNC	protein_coding	OTTHUMT00000358001.1	55	0.00	0	C	NM_024491		138290122	138290122	-1	no_errors	ENST00000264982	ensembl	human	known	69_37n	missense	75	18.48	17	SNP	0.700	T
EP400	57634	genome.wustl.edu	37	12	132547138	132547138	+	Silent	SNP	A	A	G	rs111782215|rs561398509	byFrequency	TCGA-A2-A259-01A-11D-A16D-09	TCGA-A2-A259-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93febb0a-587c-47f2-9a59-117f7aa475c5	492d903f-0464-44a3-8984-39b13c6fbcf7	g.chr12:132547138A>G	ENST00000333577.4	+	48	8443	c.8334A>G	c.(8332-8334)caA>caG	p.Q2778Q	EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000389561.2_Silent_p.Q2742Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2778	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2741Q(3)|p.Q2742Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcaacagcagcagc	0.602													G|||	74	0.0147764	0.028	0.0086	5008	,	,		14914	0.0079		0.0119	False		,,,				2504	0.0112					dbGAP											4	Substitution - coding silent(4)	prostate(2)|endometrium(1)|kidney(1)											48.0	40.0	43.0					12																	132547138		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8334A>G	12.37:g.132547138A>G			O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q2778	ENST00000333577.4	37	c.8334		12																																																																																			EP400	-	NULL	ENSG00000183495		0.602	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding		12	0.00	0	A	NM_015409		132547138	132547138	+1	no_errors	ENST00000333577	ensembl	human	known	69_37n	silent	32	20.00	8	SNP	0.021	G
FAM157B	100132403	genome.wustl.edu	37	9	141107536	141107537	+	lincRNA	INS	-	-	GCA	rs367832601|rs554298933|rs370981092		TCGA-A2-A259-01A-11D-A16D-09	TCGA-A2-A259-10A-01D-A16D-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93febb0a-587c-47f2-9a59-117f7aa475c5	492d903f-0464-44a3-8984-39b13c6fbcf7	g.chr9:141107536_141107537insGCA	ENST00000446912.2	+	0	19_20							P0CG42	F157B_HUMAN	family with sequence similarity 157, member B																		CGgcagcggcggcagcagcagc	0.545																																						dbGAP											0																																										-	-	-			0					9q34	2013-01-24			ENSG00000233013	ENSG00000233013			34080	other	unknown							Standard	NM_001145249		Approved		uc011mfe.1	P0CG42	OTTHUMG00000021000		9.37:g.141107543_141107545dupGCA				RNA	INS	-	NULL	ENST00000446912.2	37	NULL		9																																																																																			FAM157B	-	-	ENSG00000233013		0.545	FAM157B-001	KNOWN	mRNA_end_NF|basic	lincRNA	FAM157B	HGNC	lincRNA	OTTHUMT00000055378.2	38	0.00	0	-	NM_001145249		141107536	141107537	+1	no_errors	ENST00000446912	ensembl	human	known	69_37n	rna	30	26.83	11	INS	0.033:0.036	GCA
GPR110	266977	genome.wustl.edu	37	6	46976736	46976736	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A259-01A-11D-A16D-09	TCGA-A2-A259-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93febb0a-587c-47f2-9a59-117f7aa475c5	492d903f-0464-44a3-8984-39b13c6fbcf7	g.chr6:46976736A>C	ENST00000371253.2	-	11	2650	c.2435T>G	c.(2434-2436)gTg>gGg	p.V812G	GPR110_ENST00000283297.5_Missense_Mutation_p.V615G|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	812					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CTGGCTGTCCACTATTGTTCC	0.478																																						dbGAP											0													55.0	59.0	58.0					6																	46976736		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.2435T>G	6.37:g.46976736A>C	ENSP00000360299:p.Val812Gly		Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_SEA,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt	p.V812G	ENST00000371253.2	37	c.2435	CCDS34471.1	6	.	.	.	.	.	.	.	.	.	.	A	15.93	2.978317	0.53720	.	.	ENSG00000153292	ENST00000371253;ENST00000283297	T;T	0.49432	0.78;0.78	5.9	0.882	0.19172	GPCR, family 2-like (1);	0.348665	0.24542	N	0.037628	T	0.39384	0.1076	M	0.63169	1.94	0.35792	D	0.822483	P	0.50710	0.938	P	0.52031	0.688	T	0.42849	-0.9427	10	0.87932	D	0	-6.0535	9.6229	0.39732	0.7359:0.0:0.2641:0.0	.	812	Q5T601	GP110_HUMAN	G	812;615	ENSP00000360299:V812G;ENSP00000283297:V615G	ENSP00000283297:V615G	V	-	2	0	GPR110	47084695	0.002000	0.14202	0.665000	0.29768	0.835000	0.47333	1.979000	0.40608	0.166000	0.19597	0.528000	0.53228	GTG	GPR110	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000153292		0.478	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR110	HGNC	protein_coding	OTTHUMT00000040810.2	31	0.00	0	A	NM_153840		46976736	46976736	-1	no_errors	ENST00000371253	ensembl	human	known	69_37n	missense	44	11.76	6	SNP	0.452	C
ILF3	3609	genome.wustl.edu	37	19	10781834	10781834	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A259-01A-11D-A16D-09	TCGA-A2-A259-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93febb0a-587c-47f2-9a59-117f7aa475c5	492d903f-0464-44a3-8984-39b13c6fbcf7	g.chr19:10781834A>G	ENST00000590261.1	+	2	188	c.188A>G	c.(187-189)gAt>gGt	p.D63G	ILF3_ENST00000250241.8_Missense_Mutation_p.D63G|ILF3_ENST00000589998.1_Missense_Mutation_p.D63G|ILF3_ENST00000407004.3_Missense_Mutation_p.D63G|ILF3_ENST00000449870.1_Missense_Mutation_p.D63G|ILF3_ENST00000592763.1_Missense_Mutation_p.D63G|ILF3_ENST00000318511.3_Missense_Mutation_p.D63G|ILF3_ENST00000588657.1_Missense_Mutation_p.D63G|ILF3_ENST00000420083.1_Missense_Mutation_p.D63G			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	63	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			GCAGAGTCCGATAACATGGAT	0.552																																						dbGAP											0													62.0	56.0	58.0					19																	10781834		2203	4300	6503	-	-	-	SO:0001583	missense	0			U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.188A>G	19.37:g.10781834A>G	ENSP00000468156:p.Asp63Gly		A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	pfam_DZF,pfam_Ds-RNA-bd,smart_DZF,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd	p.D63G	ENST00000590261.1	37	c.188	CCDS12246.1	19	.	.	.	.	.	.	.	.	.	.	A	5.844	0.339879	0.11069	.	.	ENSG00000129351	ENST00000336059;ENST00000449870;ENST00000318511;ENST00000420083;ENST00000407004;ENST00000250241	T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45	5.65	3.54	0.40534	.	0.378699	0.28214	N	0.016176	T	0.17109	0.0411	N	0.14661	0.345	0.18873	N	0.999984	B;B;B;B;B	0.32467	0.372;0.289;0.225;0.095;0.095	B;B;B;B;B	0.31869	0.114;0.045;0.137;0.069;0.069	T	0.13872	-1.0493	10	0.34782	T	0.22	.	9.6081	0.39645	0.8524:0.0:0.1476:0.0	.	63;63;63;63;63	G5E9M5;Q12906;Q12906-6;Q12906-2;Q12906-5	.;ILF3_HUMAN;.;.;.	G	63	ENSP00000404121:D63G;ENSP00000315205:D63G;ENSP00000405436:D63G;ENSP00000384660:D63G;ENSP00000250241:D63G	ENSP00000250241:D63G	D	+	2	0	ILF3	10642834	1.000000	0.71417	0.046000	0.18839	0.001000	0.01503	5.179000	0.65043	1.166000	0.42689	0.533000	0.62120	GAT	ILF3	-	NULL	ENSG00000129351		0.552	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ILF3	HGNC	protein_coding	OTTHUMT00000452074.1	31	0.00	0	A			10781834	10781834	+1	no_errors	ENST00000449870	ensembl	human	known	69_37n	missense	55	22.54	16	SNP	0.137	G
LINC00521	256369	genome.wustl.edu	37	14	94464432	94464432	+	RNA	SNP	A	A	G	rs733166	byFrequency	TCGA-A2-A259-01A-11D-A16D-09	TCGA-A2-A259-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93febb0a-587c-47f2-9a59-117f7aa475c5	492d903f-0464-44a3-8984-39b13c6fbcf7	g.chr14:94464432A>G	ENST00000444118.1	+	0	112					NR_024182.1		Q8NCU1	CN048_HUMAN	long intergenic non-protein coding RNA 521																		ATCCTGCCTGACTCACGGGTC	0.572													G|||	3772	0.753195	0.8933	0.6787	5008	,	,		15026	0.9812		0.501	False		,,,				2504	0.6411					dbGAP											0																																										-	-	-			0			BI463117		14q32.12	2012-10-12	2011-11-29	2011-11-29	ENSG00000175699	ENSG00000175699		"""Long non-coding RNAs"""	19860	non-coding RNA	RNA, long non-coding			"""chromosome 14 open reading frame 48"""	C14orf48			Standard	NR_024182		Approved		uc001ycg.1	Q8NCU1	OTTHUMG00000156974		14.37:g.94464432A>G			Q8N7S1	RNA	SNP	-	NULL	ENST00000444118.1	37	NULL		14																																																																																			LINC00521	-	-	ENSG00000175699		0.572	LINC00521-003	KNOWN	basic	processed_transcript	LINC00521	HGNC	processed_transcript	OTTHUMT00000346916.1	8	0.00	0	A			94464432	94464432	+1	no_errors	ENST00000314629	ensembl	human	known	69_37n	rna	16	39.29	11	SNP	0.099	G
MAP3K1	4214	genome.wustl.edu	37	5	56184093	56184093	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A259-01A-11D-A16D-09	TCGA-A2-A259-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93febb0a-587c-47f2-9a59-117f7aa475c5	492d903f-0464-44a3-8984-39b13c6fbcf7	g.chr5:56184093G>C	ENST00000399503.3	+	19	4298	c.4298G>C	c.(4297-4299)tGg>tCg	p.W1433S		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1433	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TGTGATGTATGGAGTGTTGGC	0.363																																						dbGAP											0													165.0	158.0	160.0					5																	56184093		1895	4127	6022	-	-	-	SO:0001583	missense	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.4298G>C	5.37:g.56184093G>C	ENSP00000382423:p.Trp1433Ser			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.W1433S	ENST00000399503.3	37	c.4298	CCDS43318.1	5	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387543	0.82902	.	.	ENSG00000095015	ENST00000399503	T	0.46819	0.86	5.78	5.78	0.91487	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.83454	0.5258	H	0.99225	4.475	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90113	0.4193	10	0.87932	D	0	.	20.0165	0.97478	0.0:0.0:1.0:0.0	.	1433	Q13233	M3K1_HUMAN	S	1433	ENSP00000382423:W1433S	ENSP00000382423:W1433S	W	+	2	0	MAP3K1	56219850	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.522000	0.90573	2.736000	0.93811	0.557000	0.71058	TGG	MAP3K1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000095015		0.363	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	156	0.00	0	G	XM_042066		56184093	56184093	+1	no_errors	ENST00000399503	ensembl	human	novel	69_37n	missense	192	16.88	39	SNP	1.000	C
KMT2C	58508	genome.wustl.edu	37	7	152027750	152027750	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A2-A259-01A-11D-A16D-09	TCGA-A2-A259-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93febb0a-587c-47f2-9a59-117f7aa475c5	492d903f-0464-44a3-8984-39b13c6fbcf7	g.chr7:152027750G>A	ENST00000262189.6	-	3	543	c.325C>T	c.(325-327)Cag>Tag	p.Q109*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.Q109*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	109					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ACAGATCGCTGAAGAGTTGGA	0.423																																						dbGAP											0													229.0	208.0	215.0					7																	152027750		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.325C>T	7.37:g.152027750G>A	ENSP00000262189:p.Gln109*		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q109*	ENST00000262189.6	37	c.325	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	G	18.01	3.528871	0.64860	.	.	ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000452749	.	.	.	5.54	4.66	0.58398	.	0.368860	0.19630	N	0.109691	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	16.4475	0.83942	0.0:0.1315:0.8685:0.0	.	.	.	.	X	109;109;110	.	ENSP00000262189:Q109X	Q	-	1	0	MLL3	151658683	1.000000	0.71417	0.247000	0.24249	0.649000	0.38597	3.670000	0.54569	1.327000	0.45338	0.650000	0.86243	CAG	MLL3	-	NULL	ENSG00000055609		0.423	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	157	0.00	0	G			152027750	152027750	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	nonsense	153	24.26	49	SNP	0.994	A
OSBPL11	114885	genome.wustl.edu	37	3	125297815	125297815	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A259-01A-11D-A16D-09	TCGA-A2-A259-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93febb0a-587c-47f2-9a59-117f7aa475c5	492d903f-0464-44a3-8984-39b13c6fbcf7	g.chr3:125297815C>G	ENST00000296220.5	-	4	767	c.478G>C	c.(478-480)Gct>Cct	p.A160P		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	160					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						TTTCCAATAGCTTCAGTATGA	0.279																																						dbGAP											0													61.0	63.0	62.0					3																	125297815		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.478G>C	3.37:g.125297815C>G	ENSP00000296220:p.Ala160Pro		A8K9I7	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.A160P	ENST00000296220.5	37	c.478	CCDS3033.1	3	.	.	.	.	.	.	.	.	.	.	C	26.4	4.729547	0.89390	.	.	ENSG00000144909	ENST00000296220	T	0.43294	0.95	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.59266	0.2181	L	0.60455	1.87	0.80722	D	1	D	0.65815	0.995	P	0.61533	0.89	T	0.49615	-0.8921	10	0.30854	T	0.27	-9.3273	19.7069	0.96076	0.0:1.0:0.0:0.0	.	160	Q9BXB4	OSB11_HUMAN	P	160	ENSP00000296220:A160P	ENSP00000296220:A160P	A	-	1	0	OSBPL11	126780505	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.990000	0.76225	2.894000	0.99253	0.591000	0.81541	GCT	OSBPL11	-	NULL	ENSG00000144909		0.279	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL11	HGNC	protein_coding	OTTHUMT00000356295.1	93	0.00	0	C	NM_022776		125297815	125297815	-1	no_errors	ENST00000296220	ensembl	human	known	69_37n	missense	82	20.39	21	SNP	1.000	G
PLXNA3	55558	genome.wustl.edu	37	X	153696522	153696522	+	Silent	SNP	G	G	T			TCGA-A2-A259-01A-11D-A16D-09	TCGA-A2-A259-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93febb0a-587c-47f2-9a59-117f7aa475c5	492d903f-0464-44a3-8984-39b13c6fbcf7	g.chrX:153696522G>T	ENST00000369682.3	+	22	4093	c.3918G>T	c.(3916-3918)gtG>gtT	p.V1306V		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1306					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCGTGCGCGTGCTCTTCCCGG	0.637																																						dbGAP											0													103.0	78.0	86.0					X																	153696522		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.3918G>T	X.37:g.153696522G>T			Q5HY36	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.V1306	ENST00000369682.3	37	c.3918	CCDS14752.1	X																																																																																			PLXNA3	-	pfam_Plexin_cytoplasmic_RasGAP_dom	ENSG00000130827		0.637	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA3	HGNC	protein_coding	OTTHUMT00000081634.1	39	0.00	0	G	NM_017514		153696522	153696522	+1	no_errors	ENST00000369682	ensembl	human	known	69_37n	silent	22	21.43	6	SNP	1.000	T
PTPRQ	374462	genome.wustl.edu	37	12	80928679	80928679	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A259-01A-11D-A16D-09	TCGA-A2-A259-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93febb0a-587c-47f2-9a59-117f7aa475c5	492d903f-0464-44a3-8984-39b13c6fbcf7	g.chr12:80928679G>C	ENST00000266688.5	+	24	2836	c.2836G>C	c.(2836-2838)Gat>Cat	p.D946H	PTPRQ_ENST00000547485.1_3'UTR			Q9UMZ3	PTPRQ_HUMAN	protein tyrosine phosphatase, receptor type, Q	992	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				regulation of fat cell differentiation (GO:0045598)	integral component of membrane (GO:0016021)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(7)|kidney(9)|lung(2)|prostate(1)|skin(2)|stomach(2)	24						AGCACCAAGCGATCCTCCCAA	0.308																																						dbGAP											0													71.0	62.0	65.0					12																	80928679		692	1582	2274	-	-	-	SO:0001583	missense	0			AF169351	CCDS73501.1	12q21.31	2013-02-11	2001-12-04		ENSG00000139304	ENSG00000139304		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9679	protein-coding gene	gene with protein product		603317	"""deafness, autosomal recessive 84"""	DFNB84		20346435	Standard	NM_001145026		Approved		uc001sze.2	Q9UMZ3	OTTHUMG00000170171	ENST00000266688.5:c.2836G>C	12.37:g.80928679G>C	ENSP00000266688:p.Asp946His			Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.D946H	ENST00000266688.5	37	c.2836		12	.	.	.	.	.	.	.	.	.	.	G	18.37	3.609822	0.66558	.	.	ENSG00000139304	ENST00000266688	T	0.59083	0.29	5.12	5.12	0.69794	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75474	0.3854	.	.	.	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	T	0.73442	-0.3981	8	0.34782	T	0.22	.	18.9116	0.92487	0.0:0.0:1.0:0.0	.	992	Q9UMZ3	PTPRQ_HUMAN	H	946	ENSP00000266688:D946H	ENSP00000266688:D946H	D	+	1	0	PTPRQ	79452810	1.000000	0.71417	1.000000	0.80357	0.704000	0.40688	6.570000	0.73996	2.538000	0.85594	0.650000	0.86243	GAT	PTPRQ	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000139304		0.308	PTPRQ-201	KNOWN	basic|appris_principal	protein_coding	PTPRQ	HGNC	protein_coding		65	0.00	0	G	NM_001145026		80928679	80928679	+1	no_errors	ENST00000266688	ensembl	human	known	69_37n	missense	56	21.13	15	SNP	1.000	C
RPS5	6193	genome.wustl.edu	37	19	58904526	58904526	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A259-01A-11D-A16D-09	TCGA-A2-A259-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93febb0a-587c-47f2-9a59-117f7aa475c5	492d903f-0464-44a3-8984-39b13c6fbcf7	g.chr19:58904526G>A	ENST00000596046.1	+	2	1141	c.292G>A	c.(292-294)Gag>Aag	p.E98K	AC012313.1_ENST00000601382.1_5'Flank|RPS5_ENST00000601521.1_Missense_Mutation_p.E98K|RPS5_ENST00000598495.1_Missense_Mutation_p.E119K|RPS5_ENST00000598098.1_Intron|RPS5_ENST00000196551.3_Missense_Mutation_p.E98K			P46782	RS5_HUMAN	ribosomal protein S5	98					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational fidelity (GO:0006450)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)		GCATGCCTTCGAGATCATACA	0.582																																						dbGAP											0													87.0	73.0	78.0					19																	58904526		2203	4300	6503	-	-	-	SO:0001583	missense	0			U14970	CCDS12978.1	19q13.4	2011-04-05				ENSG00000083845		"""S ribosomal proteins"""	10426	protein-coding gene	gene with protein product	"""40S ribosomal protein S5"""	603630				7772601, 9582194	Standard	NM_001009		Approved	S5	uc002qsn.3	P46782		ENST00000596046.1:c.292G>A	19.37:g.58904526G>A	ENSP00000472985:p.Glu98Lys		B2R4T2|Q96BN0	Missense_Mutation	SNP	pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom,tigrfam_Ribosomal_S5/S7_euk/arc	p.E98K	ENST00000596046.1	37	c.292	CCDS12978.1	19	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338556	0.60963	.	.	ENSG00000083845	ENST00000196551	.	.	.	4.99	4.99	0.66335	Ribosomal protein S7 domain (3);	0.000000	0.85682	D	0.000000	T	0.78240	0.4252	M	0.87456	2.885	0.80722	D	1	D	0.67145	0.996	P	0.56700	0.804	T	0.83182	-0.0088	9	0.87932	D	0	-49.4134	16.1479	0.81583	0.0:0.0:1.0:0.0	.	98	P46782	RS5_HUMAN	K	98	.	ENSP00000196551:E98K	E	+	1	0	RPS5	63596338	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	8.324000	0.90005	2.499000	0.84300	0.655000	0.94253	GAG	RPS5	-	pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom,tigrfam_Ribosomal_S5/S7_euk/arc	ENSG00000083845		0.582	RPS5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPS5	HGNC	protein_coding	OTTHUMT00000467016.1	42	0.00	0	G	NM_001009		58904526	58904526	+1	no_errors	ENST00000196551	ensembl	human	known	69_37n	missense	41	19.61	10	SNP	1.000	A
SLC4A10	57282	genome.wustl.edu	37	2	162815009	162815009	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A259-01A-11D-A16D-09	TCGA-A2-A259-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93febb0a-587c-47f2-9a59-117f7aa475c5	492d903f-0464-44a3-8984-39b13c6fbcf7	g.chr2:162815009C>T	ENST00000446997.1	+	21	2899	c.2806C>T	c.(2806-2808)Cca>Tca	p.P936S	SLC4A10_ENST00000375514.5_Missense_Mutation_p.P917S|SLC4A10_ENST00000421911.1_Missense_Mutation_p.P936S|SLC4A10_ENST00000272716.5_Missense_Mutation_p.P906S|SLC4A10_ENST00000415876.2_Missense_Mutation_p.P906S	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	936					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	TATTCCCATGCCAGTGCTATA	0.348																																						dbGAP											0													165.0	145.0	151.0					2																	162815009		1839	4087	5926	-	-	-	SO:0001583	missense	0				CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.2806C>T	2.37:g.162815009C>T	ENSP00000393066:p.Pro936Ser		B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.P936S	ENST00000446997.1	37	c.2806	CCDS54411.1	2	.	.	.	.	.	.	.	.	.	.	C	29.8	5.040350	0.93630	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26	5.84	5.84	0.93424	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87853	0.6282	M	0.68593	2.085	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.998	D	0.87072	0.2160	10	0.54805	T	0.06	.	20.1379	0.98040	0.0:1.0:0.0:0.0	.	917;906;936	F8W675;Q6U841-2;Q6U841	.;.;S4A10_HUMAN	S	917;906;906;905;936;936;935	ENSP00000364664:P917S;ENSP00000395797:P906S;ENSP00000272716:P906S;ENSP00000393066:P936S;ENSP00000404486:P936S	ENSP00000272716:P906S	P	+	1	0	SLC4A10	162523255	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.779000	0.95612	0.655000	0.94253	CCA	SLC4A10	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk	ENSG00000144290		0.348	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC4A10	HGNC	protein_coding	OTTHUMT00000333090.1	265	0.00	0	C	NM_022058		162815009	162815009	+1	no_errors	ENST00000446997	ensembl	human	known	69_37n	missense	243	20.71	64	SNP	1.000	T
WDR72	256764	genome.wustl.edu	37	15	54025259	54025259	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A2-A259-01A-11D-A16D-09	TCGA-A2-A259-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93febb0a-587c-47f2-9a59-117f7aa475c5	492d903f-0464-44a3-8984-39b13c6fbcf7	g.chr15:54025259G>A	ENST00000396328.1	-	2	327	c.88C>T	c.(88-90)Cga>Tga	p.R30*	WDR72_ENST00000360509.5_Nonsense_Mutation_p.R30*|WDR72_ENST00000557913.1_Nonsense_Mutation_p.R30*|WDR72_ENST00000559418.1_Nonsense_Mutation_p.R30*	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	30										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		ACAATCGTTCGCTGGTCATCA	0.507																																						dbGAP											0													124.0	103.0	110.0					15																	54025259		2194	4293	6487	-	-	-	SO:0001587	stop_gained	0			BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.88C>T	15.37:g.54025259G>A	ENSP00000379619:p.Arg30*		Q7Z3I3|Q8N8X2	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R30*	ENST00000396328.1	37	c.88	CCDS10151.1	15	.	.	.	.	.	.	.	.	.	.	G	37	6.613285	0.97705	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	.	.	.	4.66	3.74	0.42951	.	0.389610	0.24249	N	0.040184	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	10.2485	0.43356	0.0:0.0:0.6401:0.3599	.	.	.	.	X	30	.	ENSP00000353699:R30X	R	-	1	2	WDR72	51812551	0.998000	0.40836	0.897000	0.35233	0.469000	0.32828	2.474000	0.45154	1.323000	0.45263	-0.152000	0.13540	CGA	WDR72	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000166415		0.507	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR72	HGNC	protein_coding	OTTHUMT00000254893.2	32	0.00	0	G	NM_182758		54025259	54025259	-1	no_errors	ENST00000360509	ensembl	human	known	69_37n	nonsense	59	21.33	16	SNP	0.928	A
ZHX2	22882	genome.wustl.edu	37	8	123964746	123964746	+	Silent	SNP	G	G	A			TCGA-A2-A259-01A-11D-A16D-09	TCGA-A2-A259-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93febb0a-587c-47f2-9a59-117f7aa475c5	492d903f-0464-44a3-8984-39b13c6fbcf7	g.chr8:123964746G>A	ENST00000314393.4	+	3	1831	c.996G>A	c.(994-996)aaG>aaA	p.K332K		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	332	Required for homodimerization.|Required for interaction with NFYA.|Required for nuclear localization.|Required for repressor activity.				mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CCCGGAAGAAGATGTTCAACG	0.602																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)	dbGAP											0													99.0	83.0	88.0					8																	123964746		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.996G>A	8.37:g.123964746G>A				Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.K332	ENST00000314393.4	37	c.996	CCDS6336.1	8																																																																																			ZHX2	-	superfamily_Homeodomain-like	ENSG00000178764		0.602	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZHX2	HGNC	protein_coding	OTTHUMT00000381709.1	25	0.00	0	G	NM_014943		123964746	123964746	+1	no_errors	ENST00000314393	ensembl	human	known	69_37n	silent	19	66.07	37	SNP	1.000	A
