#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
CAMTA1	23261	genome.wustl.edu	37	1	7792621	7792621	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A12V-01A-11D-A10Y-09	TCGA-C8-A12V-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b8728982-8254-4aa8-baa5-aaeb6d852260	39fd48ad-1e61-424b-85ce-8c2883ae41b7	g.chr1:7792621G>A	ENST00000303635.7	+	12	3235	c.3028G>A	c.(3028-3030)Ggc>Agc	p.G1010S	CAMTA1_ENST00000439411.2_Missense_Mutation_p.G1010S	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1010					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CAGCAGTGGAGGCGGCAGCGG	0.627			T	WWTR1	epitheliod hemangioendothelioma																																	dbGAP		Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0													46.0	52.0	50.0					1																	7792621		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.3028G>A	1.37:g.7792621G>A	ENSP00000306522:p.Gly1010Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	pfam_CG-1_dom,pfam_IPT_TIG_rcpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.G1010S	ENST00000303635.7	37	c.3028	CCDS30576.1	1	.	.	.	.	.	.	.	.	.	.	G	9.498	1.102344	0.20632	.	.	ENSG00000171735	ENST00000303635;ENST00000439411;ENST00000414738	T;T	0.45276	0.9;0.9	5.52	3.64	0.41730	.	0.405737	0.24094	N	0.041604	T	0.29061	0.0722	L	0.40543	1.245	0.33538	D	0.594454	B;B;B	0.16396	0.009;0.017;0.005	B;B;B	0.22753	0.022;0.041;0.014	T	0.33675	-0.9859	10	0.02654	T	1	-11.6133	10.4053	0.44254	0.1632:0.0:0.8368:0.0	.	1010;97;1010	Q9Y6Y1-2;B4DXR3;Q9Y6Y1	.;.;CMTA1_HUMAN	S	1010;1010;97	ENSP00000306522:G1010S;ENSP00000402561:G1010S	ENSP00000306522:G1010S	G	+	1	0	CAMTA1	7715208	0.984000	0.35163	0.648000	0.29521	0.069000	0.16628	1.771000	0.38542	0.683000	0.31428	-0.262000	0.10625	GGC	CAMTA1	-	NULL	ENSG00000171735		0.627	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA1	HGNC	protein_coding	OTTHUMT00000003588.3	98	0.00	0	G	NM_015215		7792621	7792621	+1	no_errors	ENST00000303635	ensembl	human	known	69_37n	missense	94	15.32	17	SNP	0.998	A
CNTNAP4	85445	genome.wustl.edu	37	16	76572213	76572213	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A12V-01A-11D-A10Y-09	TCGA-C8-A12V-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b8728982-8254-4aa8-baa5-aaeb6d852260	39fd48ad-1e61-424b-85ce-8c2883ae41b7	g.chr16:76572213C>A	ENST00000476707.1	+	18	3344	c.3205C>A	c.(3205-3207)Ctt>Att	p.L1069I	CNTNAP4_ENST00000377504.4_Missense_Mutation_p.L1017I|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.L993I|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.L1065I			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1066	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CAAAGAATACCTTTCTGTGAT	0.358																																						dbGAP											0													100.0	97.0	98.0					16																	76572213		1829	4091	5920	-	-	-	SO:0001583	missense	0			AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.3205C>A	16.37:g.76572213C>A	ENSP00000417628:p.Leu1069Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PFZ6|Q86YZ7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.L1065I	ENST00000476707.1	37	c.3193		16	.	.	.	.	.	.	.	.	.	.	C	15.65	2.896839	0.52121	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21	5.35	5.35	0.76521	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.36167	N	0.002756	T	0.79563	0.4467	.	.	.	0.34635	D	0.720059	B;P;P	0.41848	0.267;0.549;0.763	B;B;P	0.48982	0.344;0.329;0.597	T	0.82963	-0.0196	9	0.33940	T	0.23	.	14.1385	0.65303	0.1498:0.8502:0.0:0.0	.	993;1069;1066	E9PFZ6;E9PDN6;Q9C0A0	.;.;CNTP4_HUMAN	I	1065;1017;993;1069	ENSP00000306893:L1065I;ENSP00000439733:L1017I;ENSP00000418741:L993I;ENSP00000417628:L1069I	ENSP00000306893:L1065I	L	+	1	0	CNTNAP4	75129714	0.921000	0.31238	1.000000	0.80357	0.659000	0.38960	0.371000	0.20450	2.769000	0.95229	0.655000	0.94253	CTT	CNTNAP4	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000152910		0.358	CNTNAP4-005	PUTATIVE	basic	protein_coding	CNTNAP4	HGNC	protein_coding	OTTHUMT00000348216.1	182	0.00	0	C	NM_033401		76572213	76572213	+1	no_errors	ENST00000307431	ensembl	human	known	69_37n	missense	97	14.91	17	SNP	1.000	A
CRX	1406	genome.wustl.edu	37	19	48342988	48342988	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A12V-01A-11D-A10Y-09	TCGA-C8-A12V-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b8728982-8254-4aa8-baa5-aaeb6d852260	39fd48ad-1e61-424b-85ce-8c2883ae41b7	g.chr19:48342988C>A	ENST00000221996.7	+	4	870	c.664C>A	c.(664-666)Ctt>Att	p.L222I	CRX_ENST00000539067.1_Missense_Mutation_p.L222I|TPRX2P_ENST00000535362.1_Intron	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	222					circadian rhythm (GO:0007623)|organ morphogenesis (GO:0009887)|positive regulation of photoreceptor cell differentiation (GO:0046534)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|leucine zipper domain binding (GO:0043522)|nuclear hormone receptor binding (GO:0035257)|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)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		AGACCCCTACCTTTCTCCCAT	0.672																																					Pancreas(57;461 1196 22201 40716 47188)	dbGAP											0													109.0	123.0	118.0					19																	48342988		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF024711	CCDS12706.1	19q13.3	2013-01-08				ENSG00000105392		"""Homeoboxes / PRD class"""	2383	protein-coding gene	gene with protein product	"""orthodenticle homeobox 3"""	602225		CORD2		9390563, 9537410	Standard	NM_000554		Approved	CRD, LCA7, OTX3	uc002phq.4	O43186		ENST00000221996.7:c.664C>A	19.37:g.48342988C>A	ENSP00000221996:p.Leu222Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0QD45	Missense_Mutation	SNP	pfam_Homeodomain,pfam_Otx_TF_C,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.L222I	ENST00000221996.7	37	c.664	CCDS12706.1	19	.	.	.	.	.	.	.	.	.	.	C	21.1	4.097361	0.76870	.	.	ENSG00000105392	ENST00000221996;ENST00000539067	D;D	0.92911	-3.13;-3.13	4.21	4.21	0.49690	Transcription factor Otx, C-terminal (1);	0.000000	0.64402	D	0.000002	D	0.95427	0.8515	M	0.76938	2.355	0.40348	D	0.979103	D	0.69078	0.997	D	0.81914	0.995	D	0.95550	0.8620	10	0.49607	T	0.09	-7.9552	14.1043	0.65078	0.0:1.0:0.0:0.0	.	222	O43186	CRX_HUMAN	I	222	ENSP00000221996:L222I;ENSP00000445565:L222I	ENSP00000221996:L222I	L	+	1	0	CRX	53034800	0.996000	0.38824	0.974000	0.42286	0.851000	0.48451	0.649000	0.24843	2.168000	0.68352	0.467000	0.42956	CTT	CRX	-	pfam_Otx_TF_C	ENSG00000105392		0.672	CRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRX	HGNC	protein_coding	OTTHUMT00000409812.4	83	0.00	0	C	NM_000554		48342988	48342988	+1	no_errors	ENST00000221996	ensembl	human	known	69_37n	missense	74	12.94	11	SNP	1.000	A
EXT1	2131	genome.wustl.edu	37	8	118849379	118849379	+	Missense_Mutation	SNP	G	G	T			TCGA-C8-A12V-01A-11D-A10Y-09	TCGA-C8-A12V-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b8728982-8254-4aa8-baa5-aaeb6d852260	39fd48ad-1e61-424b-85ce-8c2883ae41b7	g.chr8:118849379G>T	ENST00000378204.2	-	2	1830	c.1024C>A	c.(1024-1026)Ctt>Att	p.L342I		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	342					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			AAGGACCCAAGCCTGCGACCA	0.493			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses																													dbGAP	yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	multiple exostoses type 1 gene		M	0													114.0	113.0	113.0					8																	118849379		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3512	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608177	"""Langer-Giedion syndrome chromosome region"", ""exostoses (multiple) 1"", ""exostosin 1"""	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.1024C>A	8.37:g.118849379G>T	ENSP00000367446:p.Leu342Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7V2|Q9BVI9	Missense_Mutation	SNP	pfam_HexNAc_Trfase_a,pfam_Exostosin	p.L342I	ENST00000378204.2	37	c.1024	CCDS6324.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	23.1|23.1	4.373413|4.373413	0.82573|0.82573	.|.	.|.	ENSG00000182197|ENSG00000182197	ENST00000436216|ENST00000378204	.|D	.|0.97870	.|-4.58	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98732|0.98732	0.9574|0.9574	M|M	0.87971|0.87971	2.92|2.92	0.80722|0.80722	D|D	1|1	.|D	.|0.61697	.|0.99	.|P	.|0.61070	.|0.883	D|D	0.98792|0.98792	1.0736|1.0736	5|10	.|0.49607	.|T	.|0.09	-16.4788|-16.4788	20.1731|20.1731	0.98165|0.98165	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|342	.|Q16394	.|EXT1_HUMAN	D|I	131|342	.|ENSP00000367446:L342I	.|ENSP00000367446:L342I	A|L	-|-	2|1	0|0	EXT1|EXT1	118918560|118918560	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	8.058000|8.058000	0.89460|0.89460	2.768000|2.768000	0.95171|0.95171	0.655000|0.655000	0.94253|0.94253	GCT|CTT	EXT1	-	pfam_Exostosin	ENSG00000182197		0.493	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXT1	HGNC	protein_coding	OTTHUMT00000132768.3	69	0.00	0	G	NM_000127		118849379	118849379	-1	no_errors	ENST00000378204	ensembl	human	known	69_37n	missense	77	14.44	13	SNP	1.000	T
ILF2	3608	genome.wustl.edu	37	1	153635526	153635526	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A12V-01A-11D-A10Y-09	TCGA-C8-A12V-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b8728982-8254-4aa8-baa5-aaeb6d852260	39fd48ad-1e61-424b-85ce-8c2883ae41b7	g.chr1:153635526C>G	ENST00000361891.4	-	12	1015	c.890G>C	c.(889-891)aGa>aCa	p.R297T	ILF2_ENST00000480213.1_5'UTR	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	297	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				immune response (GO:0006955)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740)			cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGTGTGTACTCTAAAGTTGCC	0.507																																						dbGAP											0													96.0	92.0	94.0					1																	153635526		2203	4300	6503	-	-	-	SO:0001583	missense	0			U10323	CCDS1050.1, CCDS72919.1	1q21.3	2012-12-04	2012-12-04		ENSG00000143621	ENSG00000143621			6037	protein-coding gene	gene with protein product		603181	"""interleukin enhancer binding factor 2, 45kD"", ""interleukin enhancer binding factor 2, 45kDa"""			7519613	Standard	NM_004515		Approved	NF45	uc001fcr.4	Q12905	OTTHUMG00000037087	ENST00000361891.4:c.890G>C	1.37:g.153635526C>G	ENSP00000355011:p.Arg297Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDB0|B2R8G7|Q5SR10|Q5SR11|Q7L7R3|Q9BWD4|Q9P1N0	Missense_Mutation	SNP	pfam_DZF,smart_DZF,pfscan_2-5-oligoadenylate_synth_N	p.R297T	ENST00000361891.4	37	c.890	CCDS1050.1	1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290748	0.80914	.	.	ENSG00000143621	ENST00000361891	T	0.51325	0.71	5.28	5.28	0.74379	DZF (2);	0.000000	0.85682	D	0.000000	T	0.67998	0.2953	M	0.88842	2.985	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.76071	0.978;0.987	T	0.73341	-0.4013	10	0.72032	D	0.01	-10.1337	14.2969	0.66318	0.0:1.0:0.0:0.0	.	297;297	F4ZW62;Q12905	.;ILF2_HUMAN	T	297	ENSP00000355011:R297T	ENSP00000355011:R297T	R	-	2	0	ILF2	151902150	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.659000	0.74412	2.756000	0.94617	0.655000	0.94253	AGA	ILF2	-	pfam_DZF,smart_DZF	ENSG00000143621		0.507	ILF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ILF2	HGNC	protein_coding	OTTHUMT00000090040.1	145	0.00	0	C	NM_004515		153635526	153635526	-1	no_errors	ENST00000361891	ensembl	human	known	69_37n	missense	166	17.41	35	SNP	1.000	G
LOXL1	4016	genome.wustl.edu	37	15	74239446	74239446	+	Missense_Mutation	SNP	T	T	C			TCGA-C8-A12V-01A-11D-A10Y-09	TCGA-C8-A12V-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b8728982-8254-4aa8-baa5-aaeb6d852260	39fd48ad-1e61-424b-85ce-8c2883ae41b7	g.chr15:74239446T>C	ENST00000261921.7	+	4	1714	c.1388T>C	c.(1387-1389)cTa>cCa	p.L463P		NM_005576.2	NP_005567.2	Q08397	LOXL1_HUMAN	lysyl oxidase-like 1	463	Lysyl-oxidase like.				extracellular matrix organization (GO:0030198)|oxidation-reduction process (GO:0055114)|protein deamination (GO:0018277)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor (GO:0016641)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						CACTACGACCTACTGGATGCA	0.582																																						dbGAP											0													63.0	52.0	56.0					15																	74239446		2198	4297	6495	-	-	-	SO:0001583	missense	0			L21186	CCDS10253.1	15q24-q25	2008-07-18			ENSG00000129038	ENSG00000129038			6665	protein-coding gene	gene with protein product		153456				7689553	Standard	NM_005576		Approved	LOXL, LOL	uc002awc.1	Q08397	OTTHUMG00000137595	ENST00000261921.7:c.1388T>C	15.37:g.74239446T>C	ENSP00000261921:p.Leu463Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NUL3|Q96BW7	Missense_Mutation	SNP	pfam_Lysyl_oxidase,prints_Lysyl_oxidase	p.L463P	ENST00000261921.7	37	c.1388	CCDS10253.1	15	.	.	.	.	.	.	.	.	.	.	T	21.5	4.160996	0.78226	.	.	ENSG00000129038	ENST00000261921;ENST00000395162	T	0.40756	1.02	4.81	4.81	0.61882	.	0.000000	0.64402	D	0.000003	T	0.71230	0.3315	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79157	-0.1919	10	0.87932	D	0	.	13.2143	0.59849	0.0:0.0:0.0:1.0	.	463	Q08397	LOXL1_HUMAN	P	463;325	ENSP00000261921:L463P	ENSP00000261921:L463P	L	+	2	0	LOXL1	72026499	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	7.803000	0.85983	1.804000	0.52760	0.379000	0.24179	CTA	LOXL1	-	pfam_Lysyl_oxidase,prints_Lysyl_oxidase	ENSG00000129038		0.582	LOXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOXL1	HGNC	protein_coding	OTTHUMT00000268995.2	98	0.00	0	T	NM_005576		74239446	74239446	+1	no_errors	ENST00000261921	ensembl	human	known	69_37n	missense	102	11.21	13	SNP	1.000	C
MFN1	55669	genome.wustl.edu	37	3	179107927	179107927	+	Splice_Site	SNP	G	G	T			TCGA-C8-A12V-01A-11D-A10Y-09	TCGA-C8-A12V-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b8728982-8254-4aa8-baa5-aaeb6d852260	39fd48ad-1e61-424b-85ce-8c2883ae41b7	g.chr3:179107927G>T	ENST00000471841.1	+	17	2273		c.e17+1		MFN1_ENST00000280653.7_Splice_Site|MFN1_ENST00000263969.5_Splice_Site	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1						mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			AGCTCTTAAGGTATTTAAACC	0.269																																						dbGAP											0													39.0	39.0	39.0					3																	179107927		2200	4294	6494	-	-	-	SO:0001630	splice_region_variant	0			AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.2147+1G>T	3.37:g.179107927G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Splice_Site	SNP	-	e16+1	ENST00000471841.1	37	c.2147+1	CCDS3228.1	3	.	.	.	.	.	.	.	.	.	.	G	22.8	4.339910	0.81911	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000263969;ENST00000474903	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4238	0.99064	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MFN1	180590621	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	8.786000	0.91826	2.828000	0.97474	0.655000	0.94253	.	MFN1	-	-	ENSG00000171109		0.269	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFN1	HGNC	protein_coding	OTTHUMT00000348654.2	127	0.00	0	G	NM_017927	Intron	179107927	179107927	+1	no_errors	ENST00000263969	ensembl	human	known	69_37n	splice_site	54	21.74	15	SNP	1.000	T
NOL12	79159	genome.wustl.edu	37	22	38082463	38082463	+	Missense_Mutation	SNP	T	T	G			TCGA-C8-A12V-01A-11D-A10Y-09	TCGA-C8-A12V-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b8728982-8254-4aa8-baa5-aaeb6d852260	39fd48ad-1e61-424b-85ce-8c2883ae41b7	g.chr22:38082463T>G	ENST00000359114.4	+	1	134	c.64T>G	c.(64-66)Ttc>Gtc	p.F22V	NOL12_ENST00000493862.1_Intron	NM_024313.2	NP_077289.1	Q9UGY1	NOL12_HUMAN	nucleolar protein 12	22						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	8	Melanoma(58;0.0574)					CGTTCTTAGCTTCGACGAGGA	0.652																																						dbGAP											0													36.0	35.0	35.0					22																	38082463		2202	4300	6502	-	-	-	SO:0001583	missense	0			Z83844	CCDS13955.1	22q13.1	2012-05-02			ENSG00000256872	ENSG00000273899			28585	protein-coding gene	gene with protein product						12477932	Standard	NM_024313		Approved	MGC3731, Nop25, RRP17	uc003atp.3	Q9UGY1	OTTHUMG00000150660	ENST00000359114.4:c.64T>G	22.37:g.38082463T>G	ENSP00000352021:p.Phe22Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Nucleolar_protein_12	p.F22V	ENST00000359114.4	37	c.64	CCDS13955.1	22	.	.	.	.	.	.	.	.	.	.	.	25.3	4.627248	0.87560	.	.	ENSG00000256872	ENST00000359114	D	0.83250	-1.7	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.92024	0.7473	M	0.89904	3.07	0.58432	D	0.999999	D	0.76494	0.999	D	0.85130	0.997	D	0.93318	0.6690	10	0.87932	D	0	-0.7093	12.5154	0.56030	0.0:0.0:0.0:1.0	.	22	Q9UGY1	NOL12_HUMAN	V	22	ENSP00000352021:F22V	ENSP00000352021:F22V	F	+	1	0	Z83844.2	36412409	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	2.843000	0.48238	2.172000	0.68678	0.533000	0.62120	TTC	NOL12	-	pfam_Nucleolar_protein_12	ENSG00000256872		0.652	NOL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL12	HGNC	protein_coding	OTTHUMT00000319476.1	35	0.00	0	T	NM_024313		38082463	38082463	+1	no_errors	ENST00000359114	ensembl	human	known	69_37n	missense	46	11.54	6	SNP	1.000	G
NPR3	4883	genome.wustl.edu	37	5	32786414	32786414	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A12V-01A-11D-A10Y-09	TCGA-C8-A12V-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b8728982-8254-4aa8-baa5-aaeb6d852260	39fd48ad-1e61-424b-85ce-8c2883ae41b7	g.chr5:32786414G>C	ENST00000265074.8	+	8	1932	c.1589G>C	c.(1588-1590)cGg>cCg	p.R530P	NPR3_ENST00000415167.2_Missense_Mutation_p.R529P|NPR3_ENST00000415685.2_Missense_Mutation_p.R313P|NPR3_ENST00000434067.2_Missense_Mutation_p.R314P|AC026703.1_ENST00000326958.1_5'Flank	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	530					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	CGGGAATTACGGGAAGATTCC	0.418																																						dbGAP											0													81.0	74.0	76.0					5																	32786414		1823	4083	5906	-	-	-	SO:0001583	missense	0				CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.1589G>C	5.37:g.32786414G>C	ENSP00000265074:p.Arg530Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,prints_Ntpep_rcpt	p.R530P	ENST00000265074.8	37	c.1589	CCDS56357.1	5	.	.	.	.	.	.	.	.	.	.	G	24.0	4.487936	0.84854	.	.	ENSG00000113389	ENST00000434067;ENST00000415685;ENST00000265074;ENST00000415167	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.60483	0.2272	L	0.27053	0.805	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.997	T	0.59979	-0.7352	10	0.59425	D	0.04	-24.2315	20.8794	0.99867	0.0:0.0:1.0:0.0	.	313;530;529	E7EPG9;P17342;Q60I31	.;ANPRC_HUMAN;.	P	314;313;530;529	ENSP00000388408:R314P;ENSP00000402490:R313P;ENSP00000265074:R530P;ENSP00000398028:R529P	ENSP00000265074:R530P	R	+	2	0	NPR3	32822171	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.443000	0.90320	2.941000	0.99782	0.655000	0.94253	CGG	NPR3	-	NULL	ENSG00000113389		0.418	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NPR3	HGNC	protein_coding	OTTHUMT00000317550.3	206	0.00	0	G	NM_000908		32786414	32786414	+1	no_errors	ENST00000265074	ensembl	human	known	69_37n	missense	108	22.14	31	SNP	1.000	C
SNX8	29886	genome.wustl.edu	37	7	2290629	2290629	+	IGR	SNP	C	C	T			TCGA-C8-A12V-01A-11D-A10Y-09	TCGA-C8-A12V-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b8728982-8254-4aa8-baa5-aaeb6d852260	39fd48ad-1e61-424b-85ce-8c2883ae41b7	g.chr7:2290629C>T	ENST00000222990.3	-	0	4727				NUDT1_ENST00000397049.1_Missense_Mutation_p.T178M|NUDT1_ENST00000487426.1_3'UTR|NUDT1_ENST00000343985.4_Missense_Mutation_p.T178M|NUDT1_ENST00000397048.1_Missense_Mutation_p.T178M|NUDT1_ENST00000339737.2_Missense_Mutation_p.T155M|NUDT1_ENST00000397046.1_Missense_Mutation_p.T155M|NUDT1_ENST00000356714.1_Missense_Mutation_p.T155M	NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8						early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)	early endosome membrane (GO:0031901)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)	p.T178M(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		GAGGTGGACACGGTCTAGCGG	0.602																																						dbGAP											1	Substitution - Missense(1)	lung(1)											74.0	81.0	79.0					7																	2290629		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0			AF121858	CCDS5331.1	7p22.3	2010-08-05			ENSG00000106266	ENSG00000106266		"""Sorting nexins"""	14972	protein-coding gene	gene with protein product		614905					Standard	NM_013321		Approved	Mvp1	uc003slw.3	Q9Y5X2	OTTHUMG00000151512		7.37:g.2290629C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D207|Q96I67	Missense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_OxG-triPHTase,prints_Nudix_hydrolase	p.T178M	ENST00000222990.3	37	c.533	CCDS5331.1	7	.	.	.	.	.	.	.	.	.	.	C	12.49	1.954134	0.34471	.	.	ENSG00000106268	ENST00000356714;ENST00000397049;ENST00000397046;ENST00000397048;ENST00000343985;ENST00000339737	T;T;T;T;T;T	0.33216	1.46;1.42;1.46;1.42;1.42;1.46	4.98	-6.51	0.01878	NUDIX hydrolase domain-like (1);	20.577700	0.00871	N	0.002027	T	0.24122	0.0584	L	0.47716	1.5	0.09310	N	1	P	0.44521	0.837	B	0.36719	0.231	T	0.48258	-0.9051	10	0.54805	T	0.06	-26.7378	9.1915	0.37202	0.5787:0.2741:0.0:0.1472	.	196	P36639	8ODP_HUMAN	M	155;178;155;178;178;155	ENSP00000349148:T155M;ENSP00000380242:T178M;ENSP00000380239:T155M;ENSP00000380241:T178M;ENSP00000339503:T178M;ENSP00000343439:T155M	ENSP00000343439:T155M	T	+	2	0	NUDT1	2257155	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.458000	0.06737	-1.146000	0.02854	0.462000	0.41574	ACG	NUDT1	-	superfamily_NUDIX_hydrolase_dom-like	ENSG00000106268		0.602	SNX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT1	HGNC	protein_coding	OTTHUMT00000322949.2	44	0.00	0	C			2290629	2290629	+1	no_errors	ENST00000343985	ensembl	human	known	69_37n	missense	41	12.77	6	SNP	0.000	T
OPN4	94233	genome.wustl.edu	37	10	88416983	88416983	+	Intron	SNP	C	C	T			TCGA-C8-A12V-01A-11D-A10Y-09	TCGA-C8-A12V-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b8728982-8254-4aa8-baa5-aaeb6d852260	39fd48ad-1e61-424b-85ce-8c2883ae41b7	g.chr10:88416983C>T	ENST00000241891.5	+	3	457				OPN4_ENST00000372071.2_Splice_Site_p.Q108*	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4						phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|rhodopsin mediated signaling pathway (GO:0016056)|rhythmic process (GO:0048511)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	11-cis retinal binding (GO:0005502)|G-protein coupled photoreceptor activity (GO:0008020)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						tgtgatgatgcagtaagttca	0.522																																						dbGAP											0													218.0	153.0	175.0					10																	88416983		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF147788	CCDS7376.1, CCDS31237.1	10q22	2012-08-08	2008-04-16		ENSG00000122375	ENSG00000122375		"""GPCR / Class A : Opsin receptors"""	14449	protein-coding gene	gene with protein product	"""melanopsin"""	606665	"""opsin 4 (melanopsin)"""			10632589	Standard	NM_001030015		Approved	MOP, melanopsin	uc001kdp.3	Q9UHM6	OTTHUMG00000018654	ENST00000241891.5:c.291-806C>T	10.37:g.88416983C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLB3|Q14D01|Q2PP22|Q8NGQ9	Nonsense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Opsin	p.Q108*	ENST00000241891.5	37	c.322	CCDS7376.1	10	.	.	.	.	.	.	.	.	.	.	C	17.59	3.428643	0.62844	.	.	ENSG00000122375	ENST00000372071;ENST00000443292	.	.	.	2.24	-1.55	0.08558	.	4.771370	0.00702	N	0.000787	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	0.1686	0.00111	0.3323:0.2598:0.1848:0.2231	.	.	.	.	X	108	.	ENSP00000361141:Q108X	Q	+	1	0	OPN4	88406963	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.460000	0.06720	-0.408000	0.07565	0.650000	0.86243	CAG	OPN4	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Opsin	ENSG00000122375		0.522	OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPN4	HGNC	protein_coding	OTTHUMT00000049158.2	163	0.00	0	C	NM_033282		88416983	88416983	+1	no_errors	ENST00000372071	ensembl	human	known	69_37n	nonsense	223	10.08	25	SNP	0.000	T
RPL3L	6123	genome.wustl.edu	37	16	2002953	2002953	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A12V-01A-11D-A10Y-09	TCGA-C8-A12V-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b8728982-8254-4aa8-baa5-aaeb6d852260	39fd48ad-1e61-424b-85ce-8c2883ae41b7	g.chr16:2002953G>A	ENST00000268661.7	-	3	381	c.287C>T	c.(286-288)cCt>cTt	p.P96L	RPL3L_ENST00000566484.1_5'Flank	NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	96					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)|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 large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|ribosome (GO:0005840)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						GAGACCTCGAGGGGTGGCCAC	0.597																																						dbGAP											0													73.0	67.0	69.0					16																	2002953		2199	4300	6499	-	-	-	SO:0001583	missense	0			U65581	CCDS10450.1	16p13.3	2008-02-05			ENSG00000140986	ENSG00000140986		"""L ribosomal proteins"""	10351	protein-coding gene	gene with protein product						8921388	Standard	NM_005061		Approved		uc002cnh.3	Q92901	OTTHUMG00000128685	ENST00000268661.7:c.287C>T	16.37:g.2002953G>A	ENSP00000268661:p.Pro96Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ribosomal_L3,superfamily_Transl_elong_init/rib_B-barrel	p.P96L	ENST00000268661.7	37	c.287	CCDS10450.1	16	.	.	.	.	.	.	.	.	.	.	G	14.29	2.490977	0.44249	.	.	ENSG00000140986	ENST00000268661	T	0.28666	1.6	5.28	5.28	0.74379	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.318671	0.34853	N	0.003635	T	0.49081	0.1536	H	0.96080	3.765	0.58432	D	0.999994	P	0.36249	0.545	B	0.30179	0.112	T	0.66264	-0.5967	10	0.66056	D	0.02	-17.2096	17.8999	0.88900	0.0:0.0:1.0:0.0	.	96	Q92901	RL3L_HUMAN	L	96	ENSP00000268661:P96L	ENSP00000268661:P96L	P	-	2	0	RPL3L	1942954	1.000000	0.71417	0.496000	0.27539	0.452000	0.32318	5.081000	0.64444	2.479000	0.83701	0.609000	0.83330	CCT	RPL3L	-	pfam_Ribosomal_L3,superfamily_Transl_elong_init/rib_B-barrel	ENSG00000140986		0.597	RPL3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL3L	HGNC	protein_coding	OTTHUMT00000250582.2	49	0.00	0	G	NM_005061		2002953	2002953	-1	no_errors	ENST00000268661	ensembl	human	known	69_37n	missense	40	18.37	9	SNP	0.530	A
SSTR4	6754	genome.wustl.edu	37	20	23017092	23017092	+	Silent	SNP	G	G	T			TCGA-C8-A12V-01A-11D-A10Y-09	TCGA-C8-A12V-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b8728982-8254-4aa8-baa5-aaeb6d852260	39fd48ad-1e61-424b-85ce-8c2883ae41b7	g.chr20:23017092G>T	ENST00000255008.3	+	1	1036	c.972G>T	c.(970-972)cgG>cgT	p.R324R	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	324					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TCTTCCAGCGGGTTCTCTGCC	0.592																																					Esophageal Squamous(15;850 1104 16640)	dbGAP											0													63.0	68.0	66.0					20																	23017092		2194	4298	6492	-	-	-	SO:0001819	synonymous_variant	0				CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.972G>T	20.37:g.23017092G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RM1|Q17RM3|Q9UIY1	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Somatstn_rcpt_4,prints_7TM_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_Neuropept_W_rcpt,prints_NPY_rcpt,prints_Somatstn_rcpt_1	p.R324	ENST00000255008.3	37	c.972	CCDS42856.1	20																																																																																			SSTR4	-	pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_Somatstn_rcpt	ENSG00000132671		0.592	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSTR4	HGNC	protein_coding	OTTHUMT00000078308.1	100	0.00	0	G			23017092	23017092	+1	no_errors	ENST00000255008	ensembl	human	known	69_37n	silent	116	10.77	14	SNP	0.981	T
SYT6	148281	genome.wustl.edu	37	1	114640409	114640409	+	Silent	SNP	G	G	A			TCGA-C8-A12V-01A-11D-A10Y-09	TCGA-C8-A12V-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b8728982-8254-4aa8-baa5-aaeb6d852260	39fd48ad-1e61-424b-85ce-8c2883ae41b7	g.chr1:114640409G>A	ENST00000610222.1	-	6	1601	c.1455C>T	c.(1453-1455)taC>taT	p.Y485Y	SYT6_ENST00000393296.1_Silent_p.Y485Y|SYT6_ENST00000607941.1_Silent_p.Y400Y|SYT6_ENST00000369547.1_Silent_p.Y400Y|SYT6_ENST00000609117.1_Silent_p.Y400Y			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	485	Necessary for cell membrane association (isoform 2). {ECO:0000250}.				acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCTTCCGGGGGTATGCCAGCA	0.572																																						dbGAP											0													132.0	117.0	122.0					1																	114640409		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"""Synaptotagmins"""	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.1455C>T	1.37:g.114640409G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AMB8|B3KPK1	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.Y485	ENST00000610222.1	37	c.1455		1																																																																																			SYT6	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	ENSG00000134207		0.572	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	SYT6	HGNC	protein_coding	OTTHUMT00000314819.2	129	0.77	1	G	NM_205848		114640409	114640409	-1	no_errors	ENST00000369545	ensembl	human	known	69_37n	silent	169	13.71	27	SNP	1.000	A
ZFHX4	79776	genome.wustl.edu	37	8	77618671	77618671	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A12V-01A-11D-A10Y-09	TCGA-C8-A12V-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b8728982-8254-4aa8-baa5-aaeb6d852260	39fd48ad-1e61-424b-85ce-8c2883ae41b7	g.chr8:77618671G>A	ENST00000521891.2	+	2	2796	c.2348G>A	c.(2347-2349)cGa>cAa	p.R783Q	ZFHX4_ENST00000455469.2_Missense_Mutation_p.R783Q|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R783Q|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R783Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	783					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGGAACCTCCGAATTCATATG	0.512										HNSCC(33;0.089)																												dbGAP											0													34.0	37.0	36.0					8																	77618671		2077	4251	6328	-	-	-	SO:0001583	missense	0				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.2348G>A	8.37:g.77618671G>A	ENSP00000430497:p.Arg783Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.R783Q	ENST00000521891.2	37	c.2348	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	G	12.58	1.979455	0.34942	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.54279	0.58;0.58;0.58;0.58	5.01	4.13	0.48395	Zinc finger, C2H2-like (1);	0.000000	0.39020	U	0.001493	T	0.73513	0.3596	M	0.83118	2.625	0.80722	D	1	P;D;P;D	0.89917	0.824;0.975;0.938;1.0	B;B;B;D	0.91635	0.116;0.396;0.231;0.999	T	0.78590	-0.2145	10	0.72032	D	0.01	.	13.9873	0.64343	0.0735:0.0:0.9265:0.0	.	783;783;783;783	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	Q	783	ENSP00000430497:R783Q;ENSP00000399605:R783Q;ENSP00000050961:R783Q;ENSP00000430848:R783Q	ENSP00000050961:R783Q	R	+	2	0	ZFHX4	77781226	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	9.601000	0.98297	1.467000	0.48044	0.585000	0.79938	CGA	ZFHX4	-	smart_Znf_C2H2-like	ENSG00000091656		0.512	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	40	0.00	0	G	NM_024721		77618671	77618671	+1	no_errors	ENST00000521891	ensembl	human	known	69_37n	missense	58	10.77	7	SNP	1.000	A
