#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_NormalRefReads_WU	i_NormalVAF_WU	i_NormalVarReads_WU	i_ORegAnno_bin	i_RNARefReads_WU	i_RNAVAF_WU	i_RNAVarReads_WU	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Start_position_hg18	i_TumorRefReads_WU	i_TumorVAF_WU	i_TumorVarReads_WU	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ARID4B	51742	genome.wustl.edu	37	1	235345466	235345466	+	Missense_Mutation	SNP	T	T	A			TCGA-AB-2922-03A-01W-0745-08	TCGA-AB-2922-11A-01W-0745-08	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	0eb1f4d2-4a5e-4faf-9652-d90f21cc03c8	61430182-d37f-40e8-a096-0cb3cb7b8d7b	g.chr1:235345466T>A	ENST00000264183.3	-	20	3265	c.2768A>T	c.(2767-2769)gAt>gTt	p.D923V	ARID4B_ENST00000349213.3_Missense_Mutation_p.D837V|ARID4B_ENST00000494543.1_5'Flank|ARID4B_ENST00000366603.2_Missense_Mutation_p.D923V	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	923					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			ATCTTTTCGATCTTTGGCCCT	0.418																																						dbGAP											0			1											73.0	78.0	76.0					1																	235345466		2203	4299	6502	233412089	SO:0001583	missense	0			AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.2768A>T	1.37:g.235345466T>A	ENSP00000264183:p.Asp923Val	Somatic	109	6.03	7		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	233412089	58	55.38	72	A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Missense_Mutation	SNP	HMMPfam_ARID,HMMSmart_SM00501,superfamily_ARID-like,HMMSmart_SM00333,HMMPfam_RBB1NT	p.D923V	ENST00000264183.3	37	c.2768	CCDS31061.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.77|16.77	3.216111|3.216111	0.58452|0.58452	.|.	.|.	ENSG00000054267|ENSG00000054267	ENST00000391856;ENST00000349213;ENST00000366603;ENST00000264183|ENST00000444620	T;T;T|.	0.27890|.	1.64;1.67;1.67|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.048502|.	0.85682|.	D|.	0.000000|.	T|T	0.48874|0.48874	0.1524|0.1524	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.999|.	D;D;D;D|.	0.87578|.	0.998;0.997;0.998;0.994|.	T|T	0.46456|0.46456	-0.9190|-0.9190	10|5	0.72032|.	D|.	0.01|.	-19.0959|-19.0959	15.8361|15.8361	0.78799|0.78799	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	604;923;837;923|.	Q4LE39-4;Q4LE39-3;Q4LE39-2;Q4LE39|.	.;.;.;ARI4B_HUMAN|.	V|F	923;837;923;923|323	ENSP00000264184:D837V;ENSP00000355562:D923V;ENSP00000264183:D923V|.	ENSP00000264183:D923V|.	D|I	-|-	2|1	0|0	ARID4B|ARID4B	233412089|233412089	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.660000|4.660000	0.61511|0.61511	2.144000|2.144000	0.66660|0.66660	0.477000|0.477000	0.44152|0.44152	GAT|ATC	-	NULL		0.418	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4B	protein_coding	OTTHUMT00000095566.3	T	NM_016374		233412089	-1	no_errors	NM_016374.5	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
Unknown	0	genome.wustl.edu	37	4	43901145	43901145	+	IGR	SNP	G	G	A	rs201622361		TCGA-AB-2922-03A-01W-0745-08	TCGA-AB-2922-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	0eb1f4d2-4a5e-4faf-9652-d90f21cc03c8	61430182-d37f-40e8-a096-0cb3cb7b8d7b	g.chr4:43901145G>A								RN7SL193P (35582 upstream) : RP11-663P9.1 (80877 downstream)																							GATCCCAACCGCCAAGGGCTC	0.493																																						dbGAP											0			4																																								43595902	SO:0001628	intergenic_variant	0																															4.37:g.43901145G>A		Somatic	57	9.52	6		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	43595902	68	44.72	55		Missense_Mutation	SNP	HMMPfam_NDUF_B4	p.R56H		37	c.167		4																																																																																			-	HMMPfam_NDUF_B4	0	0.493					ENSG00000124399			G			43595902	+1	no_start_codon	ENST00000244249	ensembl	human	known	54_36p	missense	SNP	0.091	A
CHIC2	26511	genome.wustl.edu	37	4	54880243	54880243	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2922-03A-01W-0745-08	TCGA-AB-2922-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	0eb1f4d2-4a5e-4faf-9652-d90f21cc03c8	61430182-d37f-40e8-a096-0cb3cb7b8d7b	g.chr4:54880243C>T	ENST00000263921.3	-	4	763	c.374G>A	c.(373-375)aGg>aAg	p.R125K	FIP1L1_ENST00000507166.1_Intron|CHIC2_ENST00000512964.1_Intron	NM_012110.3	NP_036242.1	Q9UKJ5	CHIC2_HUMAN	cysteine-rich hydrophobic domain 2	125						Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_cancers(7;0.0193)|all_neural(26;0.0209)|Lung NSC(11;0.0281)|Glioma(25;0.08)		LUSC - Lung squamous cell carcinoma(32;0.00216)			GTGGTATAACCTATTGTTTTC	0.368			T	ETV6	AML																																	dbGAP		Dom	yes		4	4q11-q12	26511	cysteine-rich hydrophobic domain 2		L	0			4											141.0	123.0	129.0					4																	54880243		2202	4300	6502	54575000	SO:0001583	missense	0			AF159423	CCDS3493.1	4q12	2013-09-04			ENSG00000109220	ENSG00000109220			1935	protein-coding gene	gene with protein product		604332				10477709	Standard	NM_012110		Approved	BTL	uc003haj.2	Q9UKJ5	OTTHUMG00000102101	ENST00000263921.3:c.374G>A	4.37:g.54880243C>T	ENSP00000263921:p.Arg125Lys	Somatic	74	15.91	14		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	54575000	39	57.61	53	B2R639	Missense_Mutation	SNP	HMMPfam_Erf4	p.R125K	ENST00000263921.3	37	c.374	CCDS3493.1	4	.	.	.	.	.	.	.	.	.	.	C	19.06	3.753251	0.69648	.	.	ENSG00000109220	ENST00000263921	.	.	.	5.44	5.44	0.79542	Golgin subfamily A member 7/ERF4 (1);	0.000000	0.85682	D	0.000000	T	0.60971	0.2310	L	0.48642	1.525	0.80722	D	1	P	0.36712	0.566	B	0.40702	0.338	T	0.55823	-0.8080	9	0.20046	T	0.44	.	19.2629	0.93975	0.0:1.0:0.0:0.0	.	125	Q9UKJ5	CHIC2_HUMAN	K	125	.	ENSP00000263921:R125K	R	-	2	0	CHIC2	54575000	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.551000	0.86045	0.650000	0.86243	AGG	-	HMMPfam_Erf4		0.368	CHIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHIC2	protein_coding	OTTHUMT00000219937.2	C			54575000	-1	no_errors	NM_012110.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
FAT4	79633	genome.wustl.edu	37	4	126336627	126336627	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2922-03A-01W-0745-08	TCGA-AB-2922-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	0eb1f4d2-4a5e-4faf-9652-d90f21cc03c8	61430182-d37f-40e8-a096-0cb3cb7b8d7b	g.chr4:126336627G>A	ENST00000394329.3	+	5	6522	c.6509G>A	c.(6508-6510)gGa>gAa	p.G2170E	FAT4_ENST00000335110.5_Missense_Mutation_p.G468E	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2170	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACACTTACTGGAACAGATATA	0.388																																						dbGAP											0			4											131.0	120.0	124.0					4																	126336627		2203	4300	6503	126556077	SO:0001583	missense	0			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6509G>A	4.37:g.126336627G>A	ENSP00000377862:p.Gly2170Glu	Somatic	44	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	126556077	41	36.92	24	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	PatternScan_ASX_HYDROXYL,HMMSmart_LamG,HMMSmart_EGF_CA,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_EGF,HMMSmart_EGF,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,superfamily_Cadherin,PatternScan_EGF_CA,superfamily_SSF57196	p.G2170E	ENST00000394329.3	37	c.6509	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	G	19.68	3.872207	0.72180	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.69435	-0.4;-0.4	5.6	5.6	0.85130	Cadherin (3);Cadherin-like (1);	0.000000	0.33959	U	0.004399	D	0.87669	0.6235	H	0.94462	3.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90606	0.4548	10	0.87932	D	0	.	19.6316	0.95708	0.0:0.0:1.0:0.0	.	468;2170	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	E	2170;468	ENSP00000377862:G2170E;ENSP00000335169:G468E	ENSP00000335169:G468E	G	+	2	0	FAT4	126556077	1.000000	0.71417	0.816000	0.32577	0.484000	0.33280	9.666000	0.98612	2.642000	0.89623	0.557000	0.71058	GGA	-	HMMPfam_Cadherin,superfamily_Cadherin		0.388	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	protein_coding	OTTHUMT00000256765.2	G	NM_024582		126556077	+1	no_errors	NM_024582.4	genbank	human	validated	54_36p	missense	SNP	1.000	A
MAP1B	4131	genome.wustl.edu	37	5	71495656	71495656	+	Silent	SNP	C	C	A			TCGA-AB-2922-03A-01W-0745-08	TCGA-AB-2922-11A-01W-0745-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	0eb1f4d2-4a5e-4faf-9652-d90f21cc03c8	61430182-d37f-40e8-a096-0cb3cb7b8d7b	g.chr5:71495656C>A	ENST00000296755.7	+	5	6772	c.6474C>A	c.(6472-6474)acC>acA	p.T2158T		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2158					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CATCCCAGACCGACTCTGATG	0.592																																					Melanoma(17;367 822 11631 31730 47712)	dbGAP											0			5											94.0	84.0	87.0					5																	71495656		2203	4300	6503	71531412	SO:0001819	synonymous_variant	0			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.6474C>A	5.37:g.71495656C>A		Somatic	102	9.73	11		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	71531412	94	48.63	89	A2BDK5	Silent	SNP	HMMPfam_MAP1B_neuraxin,PatternScan_MAP1B_NEURAXIN	p.T2158	ENST00000296755.7	37	c.6474	CCDS4012.1	5																																																																																			-	NULL		0.592	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	protein_coding	OTTHUMT00000218561.6	C	NM_005909		71531412	+1	no_errors	NM_005909.3	genbank	human	validated	54_36p	silent	SNP	0.567	A
VCAN	1462	genome.wustl.edu	37	5	82833058	82833058	+	Silent	SNP	T	T	C			TCGA-AB-2922-03A-01W-0745-08	TCGA-AB-2922-11A-01W-0745-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	0eb1f4d2-4a5e-4faf-9652-d90f21cc03c8	61430182-d37f-40e8-a096-0cb3cb7b8d7b	g.chr5:82833058T>C	ENST00000265077.3	+	8	4801	c.4236T>C	c.(4234-4236)aaT>aaC	p.N1412N	VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Silent_p.N425N|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1412	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AGTACATAAATGGGAAGCATC	0.458																																						dbGAP											0			5											45.0	47.0	46.0					5																	82833058		2203	4300	6503	82868814	SO:0001819	synonymous_variant	0			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.4236T>C	5.37:g.82833058T>C		Somatic	103	14.88	18		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	82868814	77	54.44	92	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	PatternScan_ASX_HYDROXYL,HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_Xlink,HMMSmart_SM00445,PatternScan_LINK_1,HMMPfam_Lectin_C,HMMSmart_SM00034,HMMSmart_SM00179,HMMSmart_SM00409,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_V-set,superfamily_Complement control module/SCR domain,superfamily_C-type lectin-like,PatternScan_EGF_CA,PatternScan_C_TYPE_LECTIN_1,superfamily_Immunoglobulin,superfamily_EGF/Laminin	p.N1412	ENST00000265077.3	37	c.4236	CCDS4060.1	5																																																																																			-	NULL		0.458	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	protein_coding	OTTHUMT00000254092.3	T	NM_004385		82868814	+1	no_errors	NM_004385.1	genbank	human	validated	54_36p	silent	SNP	0.996	C
PCDHB1	29930	genome.wustl.edu	37	5	140433195	140433195	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2922-03A-01W-0745-08	TCGA-AB-2922-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	0eb1f4d2-4a5e-4faf-9652-d90f21cc03c8	61430182-d37f-40e8-a096-0cb3cb7b8d7b	g.chr5:140433195G>A	ENST00000306549.3	+	1	2217	c.2140G>A	c.(2140-2142)Gtc>Atc	p.V714I		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	714					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATTATACATGTCTACCAAAA	0.348																																						dbGAP											0			5											105.0	109.0	108.0					5																	140433195		2203	4300	6503	140413379	SO:0001583	missense	0			AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.2140G>A	5.37:g.140433195G>A	ENSP00000307234:p.Val714Ile	Somatic	82	11.83	11		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	140413379	71	44.53	57	Q2M257	Missense_Mutation	SNP	HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin	p.V714I	ENST00000306549.3	37	c.2140	CCDS4243.1	5	.	.	.	.	.	.	.	.	.	.	G	7.237	0.600588	0.13939	.	.	ENSG00000171815	ENST00000306549	T	0.12879	2.64	5.91	0.413	0.16401	.	0.461817	0.17620	N	0.167760	T	0.03390	0.0098	N	0.00707	-1.245	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.38845	-0.9642	10	0.48119	T	0.1	.	6.0484	0.19772	0.4009:0.4383:0.1608:0.0	.	714	Q9Y5F3	PCDB1_HUMAN	I	714	ENSP00000307234:V714I	ENSP00000307234:V714I	V	+	1	0	PCDHB1	140413379	0.916000	0.31088	0.981000	0.43875	0.816000	0.46133	1.185000	0.32065	0.120000	0.18254	-0.302000	0.09304	GTC	-	NULL		0.348	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB1	protein_coding	OTTHUMT00000251822.2	G	NM_013340		140413379	+1	no_errors	NM_013340.2	genbank	human	reviewed	54_36p	missense	SNP	0.032	A
PLG	5340	genome.wustl.edu	37	6	161135860	161135860	+	Silent	SNP	C	C	T	rs145192723	byFrequency	TCGA-AB-2922-03A-01W-0745-08	TCGA-AB-2922-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	0eb1f4d2-4a5e-4faf-9652-d90f21cc03c8	61430182-d37f-40e8-a096-0cb3cb7b8d7b	g.chr6:161135860C>T	ENST00000308192.9	+	6	645	c.582C>T	c.(580-582)gaC>gaT	p.D194D		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	194	Kringle 2. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AAAACTATGACGGCAAAATTT	0.473													C|||	13	0.00259585	0.0083	0.0	5008	,	,		19876	0.001		0.001	False		,,,				2504	0.0					dbGAP											0			6						C		34,4372	39.2+/-71.8	0,34,2169	74.0	72.0	73.0		582	-4.6	1.0	6	dbSNP_134	73	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	PLG	NM_000301.3		0,36,6467	TT,TC,CC		0.0233,0.7717,0.2768		194/811	161135860	36,12970	2203	4300	6503	161055850	SO:0001819	synonymous_variant	0			M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.582C>T	6.37:g.161135860C>T		Somatic	69	9.21	7		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	161055850	51	60.77	79	Q15146|Q5TEH4|Q6PA00	Silent	SNP	HMMPfam_Kringle,HMMSmart_KR,HMMPfam_Trypsin,HMMSmart_Tryp_SPc,HMMPfam_PAN_1,HMMSmart_PAN_AP,superfamily_Pept_Ser_Cys,superfamily_Kringle-like,PatternScan_KRINGLE_1,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER,superfamily_SSF57414	p.D194	ENST00000308192.9	37	c.582	CCDS5279.1	6																																																																																			-	HMMPfam_Kringle,HMMSmart_KR,superfamily_Kringle-like		0.473	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLG	protein_coding	OTTHUMT00000042959.2	C	NM_000301		161055850	+1	no_errors	NM_000301.2	genbank	human	validated	54_36p	silent	SNP	0.917	T
KCNU1	157855	genome.wustl.edu	37	8	36776389	36776389	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2922-03A-01W-0745-08	TCGA-AB-2922-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	0eb1f4d2-4a5e-4faf-9652-d90f21cc03c8	61430182-d37f-40e8-a096-0cb3cb7b8d7b	g.chr8:36776389G>A	ENST00000399881.3	+	23	2607	c.2570G>A	c.(2569-2571)cGa>cAa	p.R857Q		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	857					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TCAAACTGCCGAAAAGTCCCT	0.358																																						dbGAP											0			8											120.0	112.0	114.0					8																	36776389		1835	4092	5927	36895547	SO:0001583	missense	0			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.2570G>A	8.37:g.36776389G>A	ENSP00000382770:p.Arg857Gln	Somatic	140	9.68	15		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	36895547	138	39.83	92		Missense_Mutation	SNP	HMMPfam_BK_channel_a,HMMPfam_Ion_trans,superfamily_NAD(P)-bd,superfamily_SSF81324	p.R857Q	ENST00000399881.3	37	c.2570	CCDS55220.1	8	.	.	.	.	.	.	.	.	.	.	G	6.841	0.524388	0.13066	.	.	ENSG00000215262	ENST00000399881	T	0.41400	1.0	5.6	-0.441	0.12257	.	.	.	.	.	T	0.17066	0.0410	N	0.03115	-0.41	0.35949	D	0.833778	B	0.26002	0.139	B	0.12156	0.007	T	0.13926	-1.0491	9	0.29301	T	0.29	-0.8981	9.508	0.39060	0.6145:0.0:0.3855:0.0	.	857	A8MYU2	KCNU1_HUMAN	Q	857	ENSP00000382770:R857Q	ENSP00000382770:R857Q	R	+	2	0	KCNU1	36895547	0.248000	0.23930	0.027000	0.17364	0.003000	0.03518	0.356000	0.20181	-0.078000	0.12730	-0.794000	0.03295	CGA	-	NULL		0.358	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	KCNU1	protein_coding	OTTHUMT00000376631.1	G	NM_001031836		36895547	+1	no_errors	NM_001031836.2	genbank	human	validated	54_36p	missense	SNP	0.781	A
MTA2	9219	genome.wustl.edu	37	11	62364125	62364125	+	Missense_Mutation	SNP	T	T	C	rs377278798		TCGA-AB-2922-03A-01W-0745-08	TCGA-AB-2922-11A-01W-0745-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	0eb1f4d2-4a5e-4faf-9652-d90f21cc03c8	61430182-d37f-40e8-a096-0cb3cb7b8d7b	g.chr11:62364125T>C	ENST00000278823.2	-	9	1255	c.866A>G	c.(865-867)gAt>gGt	p.D289G	MTA2_ENST00000527204.1_Missense_Mutation_p.D116G|MTA2_ENST00000524902.1_Missense_Mutation_p.D116G	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	289	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						CTGGCGAATATCATTGAAGTC	0.542																																						dbGAP											0			11						T	GLY/ASP	1,4403	2.1+/-5.4	0,1,2201	99.0	99.0	99.0		866	5.7	1.0	11		99	0,8598		0,0,4299	no	missense	MTA2	NM_004739.3	94	0,1,6500	CC,CT,TT		0.0,0.0227,0.0077	probably-damaging	289/669	62364125	1,13001	2202	4299	6501	62120701	SO:0001583	missense	0			AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"""GATA zinc finger domain containing"""	7411	protein-coding gene	gene with protein product		603947	"""metastasis associated gene family, member 2"""	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.866A>G	11.37:g.62364125T>C	ENSP00000278823:p.Asp289Gly	Somatic	283	11.21	36		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	62120701	161	40.15	108	Q68DB1|Q9UQB5	Missense_Mutation	SNP	HMMPfam_GATA,HMMSmart_ZnF_GATA,PatternScan_GATA_ZN_FINGER_1,HMMPfam_ELM2,HMMSmart_SANT,HMMPfam_BAH,HMMSmart_BAH,HMMPfam_Myb_DNA-binding,superfamily_SSF57716	p.D289G	ENST00000278823.2	37	c.866	CCDS8022.1	11	.	.	.	.	.	.	.	.	.	.	T	20.9	4.065994	0.76187	2.27E-4	0.0	ENSG00000149480	ENST00000278823;ENST00000524902;ENST00000527204	T;T;T	0.41065	1.01;1.01;1.01	5.69	5.69	0.88448	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.000000	0.85682	D	0.000000	T	0.62036	0.2395	M	0.65975	2.015	0.80722	D	1	D	0.63880	0.993	D	0.72338	0.977	T	0.64394	-0.6418	10	0.59425	D	0.04	-18.9992	13.8893	0.63729	0.0:0.0:0.0:1.0	.	289	O94776	MTA2_HUMAN	G	289;116;116	ENSP00000278823:D289G;ENSP00000431346:D116G;ENSP00000431797:D116G	ENSP00000278823:D289G	D	-	2	0	MTA2	62120701	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	8.040000	0.89188	2.163000	0.67991	0.459000	0.35465	GAT	-	HMMSmart_SANT,HMMPfam_Myb_DNA-binding		0.542	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTA2	protein_coding	OTTHUMT00000395578.1	T	NM_004739		62120701	-1	no_errors	NM_004739.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
CBX5	23468	genome.wustl.edu	37	12	54651313	54651313	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AB-2922-03A-01W-0745-08	TCGA-AB-2922-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	0eb1f4d2-4a5e-4faf-9652-d90f21cc03c8	61430182-d37f-40e8-a096-0cb3cb7b8d7b	g.chr12:54651313C>T	ENST00000439541.2	-	2	247	c.122G>A	c.(121-123)tGg>tAg	p.W41*	CBX5_ENST00000550411.1_Nonsense_Mutation_p.W41*|CBX5_ENST00000209875.4_Nonsense_Mutation_p.W41*|RN7SL390P_ENST00000470634.2_RNA	NM_001127321.1	NP_001120793.1	P45973	CBX5_HUMAN	chromobox homolog 5	41	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				blood coagulation (GO:0007596)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	chromocenter (GO:0010369)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear heterochromatin (GO:0005720)|nuclear pericentric heterochromatin (GO:0031618)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|protein binding, bridging (GO:0030674)|repressing transcription factor binding (GO:0070491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						AAAGCCTTTCCACTTCAGTAG	0.448																																					Colon(153;588 2459 18334 48613)	dbGAP											0			12											145.0	137.0	140.0					12																	54651313		2203	4300	6503	52937580	SO:0001587	stop_gained	0			U26311	CCDS8875.1	12q13.13	2010-07-06	2010-06-24		ENSG00000094916	ENSG00000094916			1555	protein-coding gene	gene with protein product	"""HP1 alpha homolog (Drosophila)"""	604478	"""chromobox homolog 5 (Drosophila HP1 alpha)"", ""chromobox homolog 5 (HP1 alpha homolog, Drosophila)"""			8663349	Standard	NM_012117		Approved	HP1Hs-alpha, HP1, HP1-ALPHA	uc001sfj.4	P45973		ENST00000439541.2:c.122G>A	12.37:g.54651313C>T	ENSP00000401009:p.Trp41*	Somatic	65	16.67	13		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	52937580	90	44.10	71	B2R8T9	Nonsense_Mutation	SNP	HMMPfam_Chromo,HMMSmart_SM00298,PatternScan_CHROMO_1,HMMPfam_Chromo_shadow,superfamily_Chromo domain-like,HMMSmart_SM00300	p.W41*	ENST00000439541.2	37	c.122	CCDS8875.1	12	.	.	.	.	.	.	.	.	.	.	C	38	7.077524	0.98048	.	.	ENSG00000094916	ENST00000209875;ENST00000439541;ENST00000550489;ENST00000550411;ENST00000552562	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.3407	17.2626	0.87075	0.0:1.0:0.0:0.0	.	.	.	.	X	41	.	ENSP00000209875:W41X	W	-	2	0	CBX5	52937580	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.446000	0.80609	2.941000	0.99782	0.655000	0.94253	TGG	-	HMMPfam_Chromo,HMMSmart_SM00298,PatternScan_CHROMO_1,superfamily_Chromo domain-like		0.448	CBX5-004	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CBX5	protein_coding	OTTHUMT00000405468.1	C	NM_012117		52937580	-1	no_errors	NM_012117.1	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	T
KCNK13	56659	genome.wustl.edu	37	14	90651249	90651249	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2922-03A-01W-0745-08	TCGA-AB-2922-11A-01W-0745-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	0eb1f4d2-4a5e-4faf-9652-d90f21cc03c8	61430182-d37f-40e8-a096-0cb3cb7b8d7b	g.chr14:90651249C>A	ENST00000282146.4	+	2	1570	c.1129C>A	c.(1129-1131)Cag>Aag	p.Q377K		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	377					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				CTGCCCCCACCAGACCAGCAC	0.577																																						dbGAP											0			14											18.0	20.0	19.0					14																	90651249		2192	4282	6474	89721002	SO:0001583	missense	0			AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.1129C>A	14.37:g.90651249C>A	ENSP00000282146:p.Gln377Lys	Somatic	16	5.88	1		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	89721002	24	41.46	17	B5TJL8|Q96E79	Missense_Mutation	SNP	HMMPfam_Ion_trans_2,superfamily_Voltage-gated potassium channels	p.Q377K	ENST00000282146.4	37	c.1129	CCDS9889.1	14	.	.	.	.	.	.	.	.	.	.	C	5.669	0.308122	0.10733	.	.	ENSG00000152315	ENST00000282146	T	0.46451	0.87	5.12	4.23	0.50019	.	1.534090	0.04255	N	0.339319	T	0.48169	0.1485	M	0.76574	2.34	0.51233	D	0.999911	B	0.18310	0.027	B	0.14023	0.01	T	0.38001	-0.9681	10	0.14252	T	0.57	.	13.7404	0.62845	0.0:0.9251:0.0:0.0749	.	377	Q9HB14	KCNKD_HUMAN	K	377	ENSP00000282146:Q377K	ENSP00000282146:Q377K	Q	+	1	0	KCNK13	89721002	0.806000	0.28996	0.228000	0.23943	0.125000	0.20455	2.630000	0.46494	1.287000	0.44583	0.655000	0.94253	CAG	-	NULL		0.577	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK13	protein_coding	OTTHUMT00000411251.1	C	NM_022054		89721002	+1	no_errors	NM_022054.2	genbank	human	reviewed	54_36p	missense	SNP	0.625	A
NECAB2	54550	genome.wustl.edu	37	16	84027969	84027969	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2922-03A-01W-0745-08	TCGA-AB-2922-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	0eb1f4d2-4a5e-4faf-9652-d90f21cc03c8	61430182-d37f-40e8-a096-0cb3cb7b8d7b	g.chr16:84027969C>T	ENST00000305202.4	+	7	676	c.659C>T	c.(658-660)gCc>gTc	p.A220V	NECAB2_ENST00000567703.1_3'UTR|NECAB2_ENST00000565691.1_Missense_Mutation_p.A137V	NM_019065.2	NP_061938.2	Q7Z6G3	NECA2_HUMAN	N-terminal EF-hand calcium binding protein 2	220						cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						CCCACTCCCGCCTCTGCCCCC	0.612																																						dbGAP											0			16											56.0	55.0	55.0					16																	84027969		2200	4300	6500	82585470	SO:0001583	missense	0			AY299331	CCDS10940.1	16q23.3-q24.1	2013-01-10	2007-12-06	2007-12-06	ENSG00000103154	ENSG00000103154		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	23746	protein-coding gene	gene with protein product			"""EF-hand calcium binding protein 2"""	EFCBP2		12044471	Standard	NM_019065		Approved		uc002fhd.3	Q7Z6G3	OTTHUMG00000137636	ENST00000305202.4:c.659C>T	16.37:g.84027969C>T	ENSP00000307449:p.Ala220Val	Somatic	40	4.76	2		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	82585470	51	48.48	48	A2RRG3|O75547|Q6ZSK0	Missense_Mutation	SNP	HMMSmart_EFh,HMMPfam_ABM,superfamily_Dimer_A_B_barrel,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_SSF47473	p.A220V	ENST00000305202.4	37	c.659	CCDS10940.1	16	.	.	.	.	.	.	.	.	.	.	C	9.476	1.096946	0.20552	.	.	ENSG00000103154	ENST00000305202	T	0.18016	2.24	4.58	0.965	0.19661	.	0.688531	0.14784	N	0.298607	T	0.07818	0.0196	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.09377	0.004	T	0.31586	-0.9938	10	0.38643	T	0.18	-8.317	7.6355	0.28264	0.0:0.4244:0.4729:0.1027	.	220	Q7Z6G3	NECA2_HUMAN	V	220	ENSP00000307449:A220V	ENSP00000307449:A220V	A	+	2	0	NECAB2	82585470	0.005000	0.15991	0.001000	0.08648	0.003000	0.03518	0.374000	0.20501	0.462000	0.27095	-0.150000	0.13652	GCC	-	NULL		0.612	NECAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NECAB2	protein_coding	OTTHUMT00000269077.2	C	NM_019065		82585470	+1	no_errors	NM_019065.2	genbank	human	provisional	54_36p	missense	SNP	0.001	T
RP11-779O18.3	0	genome.wustl.edu	37	5	172189796	172189797	+	RNA	INS	-	-	AG	rs3830204|rs138244912|rs531402660|rs377756493		TCGA-AB-2922-03A-01W-0745-08	TCGA-AB-2922-11A-01W-0745-08	-	-	-	AG	-	-	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	0eb1f4d2-4a5e-4faf-9652-d90f21cc03c8	61430182-d37f-40e8-a096-0cb3cb7b8d7b	g.chr5:172189796_172189797insAG	ENST00000523005.1	+	0	0				RP11-779O18.1_ENST00000518941.1_RNA																							TGTGGCGGTTCAGAGTTTTTGA	0.609																																						dbGAP											0			5																																								172122402			0																															5.37:g.172189799_172189800dupAG		Somatic	131	1.50	2		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	172122401	31	41.51	22		RNA	INS	-	NULL	ENST00000523005.1	37	NULL		5																																																																																			-	-		0.609	RP11-779O18.3-001	KNOWN	basic|exp_conf	antisense	LOC401218	antisense	OTTHUMT00000372516.1	-			172122402	-1	pseudogene	XR_042344.1	genbank	human	model	54_36p	rna	INS	1.000:1.000	AG
FLT3	2322	genome.wustl.edu	37	13	28608275	28608276	+	In_Frame_Ins	INS	-	-	AATCAACGTAGAAGTACTCATTATCTTCCGGGG			TCGA-AB-2922-03A-01W-0745-08	TCGA-AB-2922-11A-01W-0745-08	-	-	-	AATCAACGTAGAAGTACTCATTATCTTCCGGGG	-	-	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	0eb1f4d2-4a5e-4faf-9652-d90f21cc03c8	61430182-d37f-40e8-a096-0cb3cb7b8d7b	g.chr13:28608275_28608276insAATCAACGTAGAAGTACTCATTATCTTCCGGGG	ENST00000241453.7	-	14	1861_1862	c.1780_1781insCCCCGGAAGATAATGAGTACTTCTACGTTGATT	c.(1780-1782)ttc>tCCCCGGAAGATAATGAGTACTTCTACGTTGATTtc	p.593_594insSPEDNEYFYVD	FLT3_ENST00000380982.4_In_Frame_Ins_p.593_594insSPEDNEYFYVD|FLT3_ENST00000537084.1_In_Frame_Ins_p.593_594insSPEDNEYFYVD	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	593	Important for normal regulation of the kinase activity and for maintaining the kinase in an inactive state in the absence of bound ligand.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.F594I(2)|p.F590_F594>L(1)|p.593_594>WGYFYVD(1)|p.D593_F594ins16(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATATTCTCTGAAATCAACGTAG	0.386			"""Mis, O"""		"""AML, ALL"""																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	5	Substitution - Missense(2)|Insertion - In frame(1)|Complex - deletion inframe(1)|Complex - insertion inframe(1)	haematopoietic_and_lymphoid_tissue(5)	13																																								27506276	SO:0001652	inframe_insertion	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1780_1781insCCCCGGAAGATAATGAGTACTTCTACGTTGATT	13.37:g.28608275_28608276insAATCAACGTAGAAGTACTCATTATCTTCCGGGG	ENSP00000241453:p.Asp593_Phe594insSerProGluAspAsnGluTyrPheTyrValAsp	Somatic	NA	NA	NA		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	27506275	NA	NA	NA	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	In_Frame_Ins	INS	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.594in_frame_insSPEDNEYFYVD	ENST00000241453.7	37	c.1781_1780	CCDS31953.1	13																																																																																			-	superfamily_Kinase_like		0.386	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	-			27506276	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	in_frame_ins	INS	1.000:1.000	AATCAACGTAGAAGTACTCATTATCTTCCGGGG
KIAA1683	80726	genome.wustl.edu	37	19	18376111	18376112	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AB-2922-03A-01W-0745-08	TCGA-AB-2922-11A-01W-0745-08	-	-	-	C	-	-	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	0eb1f4d2-4a5e-4faf-9652-d90f21cc03c8	61430182-d37f-40e8-a096-0cb3cb7b8d7b	g.chr19:18376111_18376112insC	ENST00000600328.3	-	3	2431_2432	c.2238_2239insG	c.(2236-2241)gggcagfs	p.Q747fs	KIAA1683_ENST00000600359.3_Frame_Shift_Ins_p.Q701fs|KIAA1683_ENST00000392413.4_Frame_Shift_Ins_p.Q747fs			Q9H0B3	K1683_HUMAN	KIAA1683	747						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GTGATCGGCTGCCCCCGGGACT	0.604																																						dbGAP											0			19																																								18237112	SO:0001589	frameshift_variant	0			AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.2239dupG	19.37:g.18376116_18376116dupC	ENSP00000470780:p.Gln747fs	Somatic	14	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	18237111	44	37.14	26	B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Frame_Shift_Ins	INS	HMMPfam_IQ,HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.Q746fs	ENST00000600328.3	37	c.2239_2238	CCDS32958.1	19																																																																																			-	NULL		0.604	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1683	protein_coding	OTTHUMT00000466312.3	-			18237112	-1	no_errors	NM_025249.1	genbank	human	validated	54_36p	frame_shift_ins	INS	0.000:0.000	C
