#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_NormalRefReads_WU	i_NormalVAF_WU	i_NormalVarReads_WU	i_ORegAnno_bin	i_RNARefReads_WU	i_RNAVAF_WU	i_RNAVarReads_WU	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
SMC1A	8243	genome.wustl.edu	37	X	53426617	53426617	+	Missense_Mutation	SNP	A	A	T			TCGA-AB-2963-03A-01D-0739-09	TCGA-AB-2963-11A-01D-0739-09	A	A	A	T	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8876f6ab-618d-4096-9e98-4f2063ef03b1	21a5533c-8f5d-4047-8daa-0ad9d86ea2e3	g.chrX:53426617A>T	ENST00000322213.4	-	16	2583	c.2456T>A	c.(2455-2457)aTt>aAt	p.I819N		NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	819					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)	p.I819N(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						ATCCAACTGAATGCCCAAGCG	0.403																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	X											128.0	105.0	113.0					X																	53426617		2203	4300	6503	53443342	SO:0001583	missense	0			S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.2456T>A	X.37:g.53426617A>T	ENSP00000323421:p.Ile819Asn	508	0.78	4		71	61.62	114	53443342	292	54.73	353	O14995|Q16351|Q2M228	Missense_Mutation	SNP	HMMPfam_SMC_N,HMMPfam_SMC_hinge,superfamily_SMC_hinge,superfamily_SSF52540	p.I819N	ENST00000322213.4	37	c.2456	CCDS14352.1	X	.	.	.	.	.	.	.	.	.	.	A	15.17	2.754489	0.49362	.	.	ENSG00000072501	ENST00000322213	T	0.75704	-0.96	4.9	4.9	0.64082	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.32793	0.0841	N	0.00075	-2.25	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.46303	-0.9201	10	0.09590	T	0.72	.	12.863	0.57924	1.0:0.0:0.0:0.0	.	797;819	Q6MZR8;Q14683	.;SMC1A_HUMAN	N	819	ENSP00000323421:I819N	ENSP00000323421:I819N	I	-	2	0	SMC1A	53443342	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.045000	0.93812	1.745000	0.51790	0.486000	0.48141	ATT	-	HMMPfam_SMC_N,superfamily_SSF52540		0.403	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC1A	protein_coding	OTTHUMT00000056756.2	A	NM_006306		53443342	-1	no_errors	NM_006306.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
EPHA8	2046	genome.wustl.edu	37	1	22915528	22915528	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2963-03A-01D-0739-09	TCGA-AB-2963-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8876f6ab-618d-4096-9e98-4f2063ef03b1	21a5533c-8f5d-4047-8daa-0ad9d86ea2e3	g.chr1:22915528G>A	ENST00000166244.3	+	5	1216	c.1144G>A	c.(1144-1146)Ggc>Agc	p.G382S	EPHA8_ENST00000374644.4_Missense_Mutation_p.G382S|EPHA8_ENST00000538803.1_Missense_Mutation_p.G382S	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	382	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.G382S(2)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ATGTGGGAGCGGCACCCGCTT	0.677																																						dbGAP											2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	1											26.0	22.0	23.0					1																	22915528		2202	4297	6499	22788115	SO:0001583	missense	0			BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.1144G>A	1.37:g.22915528G>A	ENSP00000166244:p.Gly382Ser	1114	3.96	46		NA	NA	NA	22788115	486	44.58	391	Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	HMMPfam_Ephrin_lbd,HMMSmart_EPH_lbd,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_V_1,PatternScan_RECEPTOR_TYR_KIN_V_2,HMMPfam_SAM_1,HMMSmart_SAM,HMMPfam_fn3,HMMSmart_FN3,PatternScan_PROTEIN_KINASE_TYR,superfamily_FN_III-like,superfamily_Gal_bind_like,superfamily_SAM_homology,superfamily_Kinase_like,PatternScan_EGF_2,PatternScan_PROTEIN_KINASE_ATP	p.G382S	ENST00000166244.3	37	c.1144	CCDS225.1	1	.	.	.	.	.	.	.	.	.	.	G	3.505	-0.100995	0.06967	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;D;D	0.98849	1.66;-5.18;-5.18	4.1	0.234	0.15390	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.445566	0.21428	N	0.074705	D	0.94666	0.8280	L	0.31845	0.965	0.40109	D	0.976462	P;B	0.36944	0.574;0.147	B;B	0.31245	0.126;0.031	D	0.89823	0.3990	10	0.26408	T	0.33	.	8.7299	0.34491	0.3155:0.0:0.6845:0.0	.	382;382	P29322;P29322-2	EPHA8_HUMAN;.	S	382	ENSP00000166244:G382S;ENSP00000363775:G382S;ENSP00000440274:G382S	ENSP00000166244:G382S	G	+	1	0	EPHA8	22788115	0.013000	0.17824	0.086000	0.20670	0.061000	0.15899	0.137000	0.15995	0.054000	0.16065	-0.441000	0.05720	GGC	-	HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like		0.677	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA8	protein_coding	OTTHUMT00000008085.1	G	NM_020526		22788115	+1	no_errors	NM_020526.1	genbank	human	reviewed	54_36p	missense	SNP	0.859	A
FAM69A	388650	genome.wustl.edu	37	1	93309546	93309546	+	Silent	SNP	C	C	T			TCGA-AB-2963-03A-01D-0739-09	TCGA-AB-2963-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8876f6ab-618d-4096-9e98-4f2063ef03b1	21a5533c-8f5d-4047-8daa-0ad9d86ea2e3	g.chr1:93309546C>T	ENST00000370310.4	-	5	751	c.681G>A	c.(679-681)gtG>gtA	p.V227V	SNORA51_ENST00000384295.1_RNA	NM_001006605.4|NM_001252269.1|NM_001252271.1	NP_001006606.2|NP_001239198.1|NP_001239200.1	Q5T7M9	FA69A_HUMAN	family with sequence similarity 69, member A	227						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.V227V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4		all_lung(203;0.00265)|Lung NSC(277;0.00562)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000563)|all cancers(265;0.000751)|Epithelial(280;0.127)		CACTTTCCATCACATAGAGGT	0.393																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	1											129.0	106.0	113.0					1																	93309546		692	1591	2283	93082134	SO:0001819	synonymous_variant	0			AK027146	CCDS44173.1, CCDS72822.1, CCDS72823.1, CCDS72824.1, CCDS72825.1	1p22	2014-06-25			ENSG00000154511	ENSG00000154511			32213	protein-coding gene	gene with protein product		614542				21334309	Standard	NM_001006605		Approved	FLJ23493	uc001dpg.3	Q5T7M9	OTTHUMG00000010894	ENST00000370310.4:c.681G>A	1.37:g.93309546C>T		664	2.21	15		3	25.00	1	93082134	694	43.14	528	Q6IRV2	Silent	SNP	NULL	p.V227	ENST00000370310.4	37	c.681	CCDS44173.1	1																																																																																			-	NULL		0.393	FAM69A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM69A	protein_coding	OTTHUMT00000030046.2	C	NM_001006605		93082134	-1	no_errors	ENST00000370310	ensembl	human	known	54_36p	silent	SNP	1.000	T
RAB17	64284	genome.wustl.edu	37	2	238485934	238485934	+	Missense_Mutation	SNP	G	G	A	rs201963999		TCGA-AB-2963-03A-01D-0739-09	TCGA-AB-2963-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8876f6ab-618d-4096-9e98-4f2063ef03b1	21a5533c-8f5d-4047-8daa-0ad9d86ea2e3	g.chr2:238485934G>A	ENST00000264601.3	-	4	1030	c.401C>T	c.(400-402)aCg>aTg	p.T134M	RAB17_ENST00000538644.1_Missense_Mutation_p.T7M|RAB17_ENST00000409576.1_Intron|RAB17_ENST00000409822.1_Missense_Mutation_p.T7M	NM_022449.3	NP_071894.1	Q9H0T7	RAB17_HUMAN	RAB17, member RAS oncogene family	134					cilium assembly (GO:0042384)|endocytic recycling (GO:0032456)|establishment of melanosome localization (GO:0032401)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|melanosome transport (GO:0032402)|protein transport (GO:0015031)|regulation of dendrite development (GO:0050773)|regulation of filopodium assembly (GO:0051489)|regulation of synapse assembly (GO:0051963)|small GTPase mediated signal transduction (GO:0007264)|transcytosis (GO:0045056)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|melanosome (GO:0042470)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.T134M(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)	4		Renal(207;0.00272)|Breast(86;0.00297)|all_hematologic(139;0.182)|Ovarian(221;0.221)		Epithelial(121;9.36e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.26e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000354)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.026)		GCTGAGGTCCGTCTTGTTGCC	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		17743	0.0		0.0	False		,,,				2504	0.001				Colon(56;987 1029 6466 13943 27336)	dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	2						G	MET/THR	0,4406		0,0,2203	92.0	76.0	81.0		401	2.8	1.0	2		81	1,8599	1.2+/-3.3	0,1,4299	yes	missense	RAB17	NM_022449.3	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	134/213	238485934	1,13005	2203	4300	6503	238150673	SO:0001583	missense	0			AK022600	CCDS2520.1	2q37.3	2008-05-23			ENSG00000124839	ENSG00000124839		"""RAB, member RAS oncogene"""	16523	protein-coding gene	gene with protein product		602206				9624171	Standard	NM_022449		Approved		uc002vwz.2	Q9H0T7	OTTHUMG00000133299	ENST00000264601.3:c.401C>T	2.37:g.238485934G>A	ENSP00000264601:p.Thr134Met	1061	3.01	33		NA	NA	NA	238150673	295	46.47	257	Q53QV6|Q6IA73|Q6PJZ0|Q9BVU1|Q9H9U9	Missense_Mutation	SNP	HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540	p.T134M	ENST00000264601.3	37	c.401	CCDS2520.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.47|13.47	2.247367|2.247367	0.39697|0.39697	0.0|0.0	1.16E-4|1.16E-4	ENSG00000124839|ENSG00000124839	ENST00000430445|ENST00000264601;ENST00000538644;ENST00000409822;ENST00000411462	.|T;T;T;T	.|0.79749	.|-1.3;-1.3;-1.3;-1.3	4.61|4.61	2.78|2.78	0.32641|0.32641	.|Small GTP-binding protein domain (1);	.|0.264795	.|0.26582	.|N	.|0.023566	T|T	0.70596|0.70596	0.3242|0.3242	L|L	0.43152|0.43152	1.355|1.355	0.40956|0.40956	D|D	0.984585|0.984585	.|P	.|0.44627	.|0.839	.|B	.|0.39935	.|0.314	T|T	0.70777|0.70777	-0.4780|-0.4780	5|10	.|0.62326	.|D	.|0.03	-0.3521|-0.3521	7.5173|7.5173	0.27608|0.27608	0.2096:0.0:0.7904:0.0|0.2096:0.0:0.7904:0.0	.|.	.|134	.|Q9H0T7	.|RAB17_HUMAN	W|M	94|134;7;7;112	.|ENSP00000264601:T134M;ENSP00000443461:T7M;ENSP00000386589:T7M;ENSP00000400240:T112M	.|ENSP00000264601:T134M	R|T	-|-	1|2	2|0	RAB17|RAB17	238150673|238150673	0.997000|0.997000	0.39634|0.39634	0.987000|0.987000	0.45799|0.45799	0.760000|0.760000	0.43138|0.43138	2.449000|2.449000	0.44935|0.44935	0.934000|0.934000	0.37316|0.37316	-0.351000|-0.351000	0.07748|0.07748	CGG|ACG	-	HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540		0.612	RAB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB17	protein_coding	OTTHUMT00000257084.2	G			238150673	-1	no_errors	NM_022449.2	genbank	human	provisional	54_36p	missense	SNP	0.991	A
NWD2	57495	genome.wustl.edu	37	4	37446702	37446702	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2963-03A-01D-0739-09	TCGA-AB-2963-11A-01D-0739-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8876f6ab-618d-4096-9e98-4f2063ef03b1	21a5533c-8f5d-4047-8daa-0ad9d86ea2e3	g.chr4:37446702A>G	ENST00000309447.5	+	7	3940	c.3092A>G	c.(3091-3093)aAc>aGc	p.N1031S		NM_001144990.1	NP_001138462.1	Q9ULI1	NWD2_HUMAN		1031								p.N1031S(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(2)|skin(2)	16						ACAACAAATAACACCTTGTTG	0.458																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	4											209.0	171.0	183.0					4																	37446702		692	1591	2283	37123097	SO:0001583	missense	0																														ENST00000309447.5:c.3092A>G	4.37:g.37446702A>G	ENSP00000309501:p.Asn1031Ser	569	1.39	8		NA	NA	NA	37123097	264	47.31	237	A8MRU1	Missense_Mutation	SNP	HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1	p.N453S	ENST00000309447.5	37	c.1358	CCDS47040.1	4	.	.	.	.	.	.	.	.	.	.	A	16.99	3.273106	0.59649	.	.	ENSG00000174145	ENST00000309447	T	0.66099	-0.19	5.86	5.86	0.93980	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.62233	0.2411	L	0.27053	0.805	0.80722	D	1	D	0.67145	0.996	P	0.57425	0.82	T	0.57142	-0.7862	10	0.13853	T	0.58	.	16.2507	0.82485	1.0:0.0:0.0:0.0	.	1031	Q9ULI1	K1239_HUMAN	S	1031	ENSP00000309501:N1031S	ENSP00000309501:N1031S	N	+	2	0	KIAA1239	37123097	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.962000	0.93254	2.237000	0.73441	0.528000	0.53228	AAC	-	HMMSmart_SM00320,superfamily_WD40 repeat-like		0.458	KIAA1239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1239	protein_coding	OTTHUMT00000347551.2	A			37123097	+1	no_start_codon	ENST00000309447	ensembl	human	known	54_36p	missense	SNP	1.000	G
RFC1	5981	genome.wustl.edu	37	4	39308238	39308238	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2963-03A-01D-0739-09	TCGA-AB-2963-11A-01D-0739-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8876f6ab-618d-4096-9e98-4f2063ef03b1	21a5533c-8f5d-4047-8daa-0ad9d86ea2e3	g.chr4:39308238T>C	ENST00000381897.1	-	14	2105	c.1972A>G	c.(1972-1974)Acc>Gcc	p.T658A	RFC1_ENST00000349703.2_Missense_Mutation_p.T657A	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	658					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)	p.T657A(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GCTGTGGTGGTTTTGCCAACA	0.493																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	4											81.0	73.0	76.0					4																	39308238		2203	4300	6503	38984633	SO:0001583	missense	0			L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.1972A>G	4.37:g.39308238T>C	ENSP00000371321:p.Thr658Ala	1011	1.75	18		17	57.50	23	38984633	999	44.59	807	A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	HMMPfam_BRCT,HMMSmart_BRCT,superfamily_BRCT,HMMSmart_AAA,HMMPfam_AAA,superfamily_Pol_clamp_load_C,HMMPfam_RFC1,superfamily_SSF52540	p.T657A	ENST00000381897.1	37	c.1969	CCDS56329.1	4	.	.	.	.	.	.	.	.	.	.	T	31	5.066974	0.93898	.	.	ENSG00000035928	ENST00000381897;ENST00000349703	T;T	0.55234	0.53;0.53	5.91	3.42	0.39159	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.107849	0.64402	D	0.000005	T	0.80401	0.4616	H	0.99498	4.595	0.80722	D	1	D;D	0.56746	0.977;0.966	P;P	0.60286	0.872;0.661	T	0.82697	-0.0329	10	0.87932	D	0	-7.8678	8.9341	0.35688	0.0:0.0655:0.1268:0.8077	.	658;657	P35251;P35251-2	RFC1_HUMAN;.	A	658;657	ENSP00000371321:T658A;ENSP00000261424:T657A	ENSP00000261424:T657A	T	-	1	0	RFC1	38984633	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.728000	0.84847	0.464000	0.27142	0.533000	0.62120	ACC	-	HMMSmart_AAA,HMMPfam_AAA,superfamily_SSF52540		0.493	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RFC1	protein_coding	OTTHUMT00000216808.1	T	NM_002913		38984633	-1	no_errors	NM_002913.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
ETF1	2107	genome.wustl.edu	37	5	137853261	137853261	+	Missense_Mutation	SNP	A	A	C			TCGA-AB-2963-03A-01D-0739-09	TCGA-AB-2963-11A-01D-0739-09	A	A	A	C	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8876f6ab-618d-4096-9e98-4f2063ef03b1	21a5533c-8f5d-4047-8daa-0ad9d86ea2e3	g.chr5:137853261A>C	ENST00000360541.5	-	4	612	c.391T>G	c.(391-393)Ttc>Gtc	p.F131V	ETF1_ENST00000503014.1_Missense_Mutation_p.F117V|ETF1_ENST00000499810.2_Missense_Mutation_p.F98V|ETF1_ENST00000514005.1_5'UTR	NM_004730.3	NP_004721.1	P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	131					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)|protein methylation (GO:0006479)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)|translation termination factor activity (GO:0008079)	p.F131V(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TCTGTATGGAATTTGTTGTCA	0.403																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	5											117.0	108.0	111.0					5																	137853261		2203	4300	6503	137881160	SO:0001583	missense	0			AF095901	CCDS4207.1, CCDS75313.1, CCDS75314.1	5q31.2	2008-02-05			ENSG00000120705	ENSG00000120705			3477	protein-coding gene	gene with protein product	"""sup45 (yeast omnipotent suppressor 45) homolog-like 1"", ""polypeptide chain release factor 1"""	600285		SUP45L1, ERF1, ERF		1546371, 7990965	Standard	NM_004730		Approved	eRF1, TB3-1, RF1	uc003ldc.5	P62495	OTTHUMG00000129199	ENST00000360541.5:c.391T>G	5.37:g.137853261A>C	ENSP00000353741:p.Phe131Val	225	2.99	7		22	61.40	35	137881160	143	43.97	113	B2R6B4|D3DQC1|P46055|Q5M7Z7|Q96CG1	Missense_Mutation	SNP	HMMPfam_eRF1_1,HMMPfam_eRF1_2,HMMPfam_eRF1_3,superfamily_Translational machinery components,superfamily_L30e-like,superfamily_N-terminal domain of eukaryotic peptide chain release factor subunit 1 ERF1	p.F131V	ENST00000360541.5	37	c.391	CCDS4207.1	5	.	.	.	.	.	.	.	.	.	.	A	28.7	4.941057	0.92526	.	.	ENSG00000120705	ENST00000499810;ENST00000360541;ENST00000503014;ENST00000507939	.	.	.	5.39	5.39	0.77823	eRF1 domain 1/Pelota-like (1);Peptide Chain Release Factor eRF1/aRF1, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.91181	0.7222	H	0.99516	4.605	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.987;0.999	D	0.94869	0.8028	9	0.87932	D	0	-5.0849	15.0652	0.71989	1.0:0.0:0.0:0.0	.	117;131	B7Z7P8;P62495	.;ERF1_HUMAN	V	98;131;117;98	.	ENSP00000353741:F131V	F	-	1	0	ETF1	137881160	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.292000	0.96076	2.043000	0.60533	0.533000	0.62120	TTC	-	HMMPfam_eRF1_1,superfamily_N-terminal domain of eukaryotic peptide chain release factor subunit 1 ERF1		0.403	ETF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETF1	protein_coding	OTTHUMT00000251276.2	A	NM_004730		137881160	-1	no_errors	NM_004730.2	genbank	human	validated	54_36p	missense	SNP	1.000	C
STC2	8614	genome.wustl.edu	37	5	172745087	172745087	+	Silent	SNP	C	C	T			TCGA-AB-2963-03A-01D-0739-09	TCGA-AB-2963-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8876f6ab-618d-4096-9e98-4f2063ef03b1	21a5533c-8f5d-4047-8daa-0ad9d86ea2e3	g.chr5:172745087C>T	ENST00000265087.4	-	4	1981	c.672G>A	c.(670-672)gaG>gaA	p.E224E	STC2_ENST00000520593.1_5'Flank	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	224					cellular calcium ion homeostasis (GO:0006874)|cellular response to hypoxia (GO:0071456)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|regulation of hormone biosynthetic process (GO:0046885)|regulation of store-operated calcium entry (GO:2001256)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)	p.E224E(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GGGGCTGGCGCTCGGGGGGCG	0.652																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	5											43.0	48.0	46.0					5																	172745087		2203	4300	6503	172677693	SO:0001819	synonymous_variant	0			AB012664	CCDS4388.1	5q35.2	2004-05-17			ENSG00000113739	ENSG00000113739			11374	protein-coding gene	gene with protein product		603665				9723890, 9753616	Standard	NM_003714		Approved	STC-2	uc003mco.1	O76061	OTTHUMG00000130542	ENST00000265087.4:c.672G>A	5.37:g.172745087C>T		547	2.15	12		NA	NA	NA	172677693	143	47.81	131		Silent	SNP	HMMPfam_Stanniocalcin	p.E224	ENST00000265087.4	37	c.672	CCDS4388.1	5																																																																																			-	HMMPfam_Stanniocalcin		0.652	STC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STC2	protein_coding	OTTHUMT00000252965.1	C	NM_003714		172677693	-1	no_errors	NM_003714.2	genbank	human	reviewed	54_36p	silent	SNP	0.052	T
EGFL8	80864	genome.wustl.edu	37	6	32135151	32135151	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2963-03A-01D-0739-09	TCGA-AB-2963-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8876f6ab-618d-4096-9e98-4f2063ef03b1	21a5533c-8f5d-4047-8daa-0ad9d86ea2e3	g.chr6:32135151G>A	ENST00000395512.1	+	7	731	c.626G>A	c.(625-627)cGc>cAc	p.R209H	PPT2-EGFL8_ENST00000422437.1_3'UTR|EGFL8_ENST00000333845.6_Missense_Mutation_p.R209H|AGPAT1_ENST00000490711.1_5'Flank			Q99944	EGFL8_HUMAN	EGF-like-domain, multiple 8	209						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.R209H(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						AAAGATGAGCGCGCTCTGAAG	0.657																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	6											43.0	45.0	44.0					6																	32135151		1509	2708	4217	32243129	SO:0001583	missense	0			U89336	CCDS4743.1	6p21	2010-06-25	2003-05-21	2003-05-23	ENSG00000241404	ENSG00000241404			13944	protein-coding gene	gene with protein product		609897	"""chromosome 6 open reading frame 8"""	C6orf8			Standard	NM_030652		Approved	NG3		Q99944	OTTHUMG00000031222	ENST00000395512.1:c.626G>A	6.37:g.32135151G>A	ENSP00000378888:p.Arg209His	2115	2.17	47		2	50.00	2	32243129	552	49.50	542	B0S884|G5E9Q0|Q5JP23|Q5SSX3|Q8IV30	Missense_Mutation	SNP	PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,HMMPfam_EMI,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin	p.R209H	ENST00000395512.1	37	c.626	CCDS4743.1	6	.	.	.	.	.	.	.	.	.	.	G	2.897	-0.228296	0.06022	.	.	ENSG00000241404	ENST00000333845;ENST00000395512;ENST00000432129	D;D;T	0.88896	-2.44;-2.44;2.13	5.45	-3.04	0.05412	.	.	.	.	.	T	0.48786	0.1519	N	0.03209	-0.39	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.47262	-0.9131	9	0.20046	T	0.44	-1.0581	6.2345	0.20756	0.5224:0.1305:0.3471:0.0	.	209	Q99944	EGFL8_HUMAN	H	209;209;189	ENSP00000333380:R209H;ENSP00000378888:R209H;ENSP00000401694:R189H	ENSP00000333380:R209H	R	+	2	0	EGFL8	32243129	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.075000	0.03423	-0.561000	0.06094	-0.339000	0.08088	CGC	-	NULL		0.657	EGFL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGFL8	protein_coding	OTTHUMT00000076463.3	G	NM_030652		32243129	+1	no_errors	NM_030652.2	genbank	human	validated	54_36p	missense	SNP	0.574	A
TCTE3	6991	genome.wustl.edu	37	6	170143231	170143231	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2963-03A-01D-0739-09	TCGA-AB-2963-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8876f6ab-618d-4096-9e98-4f2063ef03b1	21a5533c-8f5d-4047-8daa-0ad9d86ea2e3	g.chr6:170143231C>T	ENST00000366774.3	-	3	531	c.431G>A	c.(430-432)cGt>cAt	p.R144H		NM_174910.1	NP_777570.1	Q8IZS6	TC1D3_HUMAN	t-complex-associated-testis-expressed 3	144					transport (GO:0006810)	cytoplasm (GO:0005737)|dynein complex (GO:0030286)|membrane (GO:0016020)|microtubule (GO:0005874)	motor activity (GO:0003774)	p.R144H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|prostate(1)	4		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;1.08e-21)|BRCA - Breast invasive adenocarcinoma(81;1.32e-07)|GBM - Glioblastoma multiforme(31;0.00157)		GAACTTATAACGGTGGTACCC	0.338																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	6											92.0	103.0	99.0					6																	170143231		2203	4298	6501	169885156	SO:0001583	missense	0			AF519569	CCDS5310.1	6q27	2014-06-03			ENSG00000184786	ENSG00000184786			11695	protein-coding gene	gene with protein product	"""Tctex1 domain containing 3"""	186977				1505969, 12584439	Standard	NM_174910		Approved	TCTEX1D3	uc003qxe.1	Q8IZS6	OTTHUMG00000016068	ENST00000366774.3:c.431G>A	6.37:g.170143231C>T	ENSP00000355736:p.Arg144His	179	2.19	4		2	0.00	0	169885156	258	44.21	206		Missense_Mutation	SNP	HMMPfam_Tctex-1	p.R144H	ENST00000366774.3	37	c.431	CCDS5310.1	6	.	.	.	.	.	.	.	.	.	.	C	24.7	4.556328	0.86231	.	.	ENSG00000184786	ENST00000366774	T	0.33654	1.4	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000001	T	0.58018	0.2093	M	0.83483	2.645	0.51767	D	0.999931	D	0.89917	1.0	D	0.97110	1.0	T	0.63033	-0.6727	10	0.72032	D	0.01	-22.8692	16.3901	0.83532	0.0:1.0:0.0:0.0	.	144	Q8IZS6	TC1D3_HUMAN	H	144	ENSP00000355736:R144H	ENSP00000355736:R144H	R	-	2	0	TCTE3	169885156	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	4.223000	0.58587	2.679000	0.91253	0.655000	0.94253	CGT	-	HMMPfam_Tctex-1		0.338	TCTE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCTE3	protein_coding	OTTHUMT00000043243.1	C	NM_174910		169885156	-1	no_errors	NM_174910.1	genbank	human	provisional	54_36p	missense	SNP	0.993	T
BMS1	9790	genome.wustl.edu	37	10	43289317	43289317	+	Silent	SNP	C	C	A			TCGA-AB-2963-03A-01D-0739-09	TCGA-AB-2963-11A-01D-0739-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8876f6ab-618d-4096-9e98-4f2063ef03b1	21a5533c-8f5d-4047-8daa-0ad9d86ea2e3	g.chr10:43289317C>A	ENST00000374518.5	+	9	1170	c.1107C>A	c.(1105-1107)acC>acA	p.T369T		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	369					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.T369T(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGGGGCCCACCCATGAGCTGG	0.507																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	10											114.0	113.0	113.0					10																	43289317		2203	4300	6503	42609323	SO:0001819	synonymous_variant	0			BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.1107C>A	10.37:g.43289317C>A		1194	5.74	73		19	45.71	16	42609323	772	47.63	703	Q5QPT5|Q86XJ9	Silent	SNP	HMMPfam_DUF663,HMMPfam_AARP2CN,HMMSmart_SM00785,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.T369	ENST00000374518.5	37	c.1107	CCDS7199.1	10																																																																																			-	superfamily_P-loop containing nucleoside triphosphate hydrolases		0.507	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMS1	protein_coding	OTTHUMT00000047690.2	C	NM_014753		42609323	+1	no_errors	NM_014753.3	genbank	human	reviewed	54_36p	silent	SNP	0.980	A
UNC5B	219699	genome.wustl.edu	37	10	73053675	73053675	+	Silent	SNP	G	G	A	rs374874158		TCGA-AB-2963-03A-01D-0739-09	TCGA-AB-2963-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8876f6ab-618d-4096-9e98-4f2063ef03b1	21a5533c-8f5d-4047-8daa-0ad9d86ea2e3	g.chr10:73053675G>A	ENST00000335350.6	+	13	2576	c.2160G>A	c.(2158-2160)acG>acA	p.T720T	UNC5B_ENST00000373192.4_Silent_p.T709T	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	720	Interaction with DCC. {ECO:0000250}.|UPA domain. {ECO:0000250}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)		p.T720T(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						TGGAGGACACGCCTGTAGCAC	0.667																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	10						G		0,4404		0,0,2202	19.0	18.0	18.0		2160	-7.5	0.2	10		18	1,8597		0,1,4298	no	coding-synonymous	UNC5B	NM_170744.4		0,1,6500	AA,AG,GG		0.0116,0.0,0.0077		720/946	73053675	1,13001	2202	4299	6501	72723681	SO:0001819	synonymous_variant	0			AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.2160G>A	10.37:g.73053675G>A		598	1.63	10		0	100.00	1	72723681	176	48.55	167	Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Silent	SNP	HMMPfam_Death,HMMSmart_SM00005,HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMPfam_ZU5,HMMSmart_SM00218,HMMSmart_SM00408,HMMSmart_SM00409,superfamily_DEATH domain,HMMPfam_I-set,superfamily_Immunoglobulin	p.T720	ENST00000335350.6	37	c.2160	CCDS7309.1	10																																																																																			-	NULL		0.667	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC5B	protein_coding	OTTHUMT00000048541.1	G	NM_170744		72723681	+1	no_errors	NM_170744.3	genbank	human	validated	54_36p	silent	SNP	0.564	A
PTPN11	5781	genome.wustl.edu	37	12	112926910	112926910	+	Missense_Mutation	SNP	G	G	C	rs397507550		TCGA-AB-2963-03A-01D-0739-09	TCGA-AB-2963-11A-01D-0739-09	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8876f6ab-618d-4096-9e98-4f2063ef03b1	21a5533c-8f5d-4047-8daa-0ad9d86ea2e3	g.chr12:112926910G>C	ENST00000351677.2	+	13	1728	c.1530G>C	c.(1528-1530)caG>caC	p.Q510H		NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	514	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.		Q -> P (in LEOPARD1). {ECO:0000269|PubMed:14961557, ECO:0000269|PubMed:15121796, ECO:0000269|PubMed:15690106}.|Q -> R (in NS1). {ECO:0000269|PubMed:15948193}.		abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						CAGAAGCACAGTACCGATTTA	0.493			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome																													dbGAP		Dom	yes		12	12q24.1	5781	"""protein tyrosine phosphatase, non-receptor type 11"""	yes	L	0			12											182.0	171.0	174.0					12																	112926910		2203	4300	6503	111411293	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9644	protein-coding gene	gene with protein product		176876	"""Noonan syndrome 1"""	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.1530G>C	12.37:g.112926910G>C	ENSP00000340944:p.Gln510His	538	1.82	10		38	7.32	3	111411293	830	16.33	162	A8K1D9|Q96HD7	Missense_Mutation	SNP	HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMPfam_SH2,HMMSmart_SM00252,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II,superfamily_SH2 domain	p.Q510H	ENST00000351677.2	37	c.1530	CCDS9163.1	12	.	.	.	.	.	.	.	.	.	.	G	20.7	4.041522	0.75732	.	.	ENSG00000179295	ENST00000351677	D	0.99677	-6.37	5.13	2.29	0.28610	.	0.000000	0.85682	D	0.000000	D	0.99697	0.9885	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99056	1.0829	10	0.87932	D	0	.	9.2895	0.37778	0.2656:0.0:0.7344:0.0	.	510	Q06124-2	.	H	510	ENSP00000340944:Q510H	ENSP00000340944:Q510H	Q	+	3	2	PTPN11	111411293	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.583000	0.53928	0.278000	0.22164	0.650000	0.86243	CAG	-	HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II		0.493	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN11	protein_coding	OTTHUMT00000259496.2	G			111411293	+1	no_errors	NM_002834.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
FLT3	2322	genome.wustl.edu	37	13	28592642	28592642	+	Missense_Mutation	SNP	C	C	A	rs121913486|rs121913488		TCGA-AB-2963-03A-01D-0739-09	TCGA-AB-2963-11A-01D-0739-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8876f6ab-618d-4096-9e98-4f2063ef03b1	21a5533c-8f5d-4047-8daa-0ad9d86ea2e3	g.chr13:28592642C>A	ENST00000241453.7	-	20	2584	c.2503G>T	c.(2503-2505)Gat>Tat	p.D835Y	FLT3_ENST00000380982.4_Missense_Mutation_p.D835Y|FLT3_ENST00000537084.1_Intron	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	835	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> E (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608, ECO:0000269|PubMed:14504097}.|D -> H (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608, ECO:0000269|PubMed:11442493, ECO:0000269|PubMed:14504097}.|D -> N (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608}.|D -> V (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608}.|D -> Y (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608, ECO:0000269|PubMed:11442493, ECO:0000269|PubMed:14504097}.		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.D835Y(190)|p.D835H(30)|p.?(23)|p.D835N(6)|p.D835del(1)|p.R834_D835del(1)|p.D835F(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)	CTCATGATATCTCGAGCCAAT	0.453			"""Mis, O"""		"""AML, ALL"""																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	252	Substitution - Missense(227)|Unknown(23)|Deletion - In frame(2)	haematopoietic_and_lymphoid_tissue(252)	13											187.0	141.0	156.0					13																	28592642		2203	4300	6503	27490642	SO:0001583	missense	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.2503G>T	13.37:g.28592642C>A	ENSP00000241453:p.Asp835Tyr	1451	0.27	4		324	19.15	77	27490642	887	13.80	142	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	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.D835Y	ENST00000241453.7	37	c.2503	CCDS31953.1	13	.	.	.	.	.	.	.	.	.	.	C	28.8	4.949190	0.92660	.	.	ENSG00000122025	ENST00000241453;ENST00000380982	D;D	0.83755	-1.76;-1.76	5.84	5.84	0.93424	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.074843	0.56097	D	0.000030	D	0.87981	0.6315	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88564	0.3125	10	0.87932	D	0	.	20.221	0.98325	0.0:1.0:0.0:0.0	.	835	P36888	FLT3_HUMAN	Y	835	ENSP00000241453:D835Y;ENSP00000370369:D835Y	ENSP00000241453:D835Y	D	-	1	0	FLT3	27490642	1.000000	0.71417	0.960000	0.40013	0.940000	0.58332	7.815000	0.86186	2.792000	0.96026	0.556000	0.70494	GAT	-	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like		0.453	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	C			27490642	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
ZFHX3	463	genome.wustl.edu	37	16	72821134	72821134	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2963-03A-01D-0739-09	TCGA-AB-2963-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8876f6ab-618d-4096-9e98-4f2063ef03b1	21a5533c-8f5d-4047-8daa-0ad9d86ea2e3	g.chr16:72821134C>T	ENST00000268489.5	-	10	11713	c.11041G>A	c.(11041-11043)Ggt>Agt	p.G3681S	ZFHX3_ENST00000397992.5_Missense_Mutation_p.G2767S|AC004943.1_ENST00000584072.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA|RP5-991G20.4_ENST00000569195.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3681					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G3681S(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TCTTTGGGACCCTCCACCGGG	0.552																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	16											147.0	158.0	154.0					16																	72821134		2198	4300	6498	71378635	SO:0001583	missense	0			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.11041G>A	16.37:g.72821134C>T	ENSP00000268489:p.Gly3681Ser	1185	2.70	33		1	0.00	0	71378635	304	46.76	267	D3DWS8|O15101|Q13719	Missense_Mutation	SNP	HMMPfam_Homeobox,HMMSmart_SM00389,HMMSmart_SM00451,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Homeodomain-like,HMMSmart_SM00355,PatternScan_HOMEOBOX_1,superfamily_C2H2 and C2HC zinc fingers	p.G3681S	ENST00000268489.5	37	c.11041	CCDS10908.1	16	.	.	.	.	.	.	.	.	.	.	C	15.26	2.781300	0.49891	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.73363	-0.74;-0.74	5.25	5.25	0.73442	.	0.000000	0.51477	D	0.000100	T	0.56485	0.1988	N	0.08118	0	0.52099	D	0.999944	P	0.37061	0.58	B	0.35114	0.196	T	0.57476	-0.7805	10	0.18276	T	0.48	.	18.9036	0.92452	0.0:1.0:0.0:0.0	.	3681	Q15911	ZFHX3_HUMAN	S	3681;2767	ENSP00000268489:G3681S;ENSP00000438926:G2767S	ENSP00000268489:G3681S	G	-	1	0	ZFHX3	71378635	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.702000	0.84576	2.453000	0.82957	0.552000	0.68991	GGT	-	NULL		0.552	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	protein_coding	OTTHUMT00000269008.1	C	NM_006885		71378635	-1	no_errors	NM_006885.3	genbank	human	validated	54_36p	missense	SNP	1.000	T
BECN1	8678	genome.wustl.edu	37	17	40970380	40970380	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2963-03A-01D-0739-09	TCGA-AB-2963-11A-01D-0739-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8876f6ab-618d-4096-9e98-4f2063ef03b1	21a5533c-8f5d-4047-8daa-0ad9d86ea2e3	g.chr17:40970380T>C	ENST00000361523.4	-	7	674	c.542A>G	c.(541-543)cAg>cGg	p.Q181R	BECN1_ENST00000590099.1_Missense_Mutation_p.Q181R|BECN1_ENST00000438274.3_Missense_Mutation_p.Q105R	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	181					autophagic vacuole assembly (GO:0000045)|beta-amyloid metabolic process (GO:0050435)|cellular defense response (GO:0006968)|cellular response to aluminum ion (GO:0071275)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokinesis (GO:0000910)|defense response to virus (GO:0051607)|lysosome organization (GO:0007040)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|neuron development (GO:0048666)|positive regulation of macroautophagy (GO:0016239)|regulation of catalytic activity (GO:0050790)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to vitamin E (GO:0033197)|viral process (GO:0016032)	dendrite (GO:0030425)|membrane (GO:0016020)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)		p.Q181R(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		TAGCTCCATCTGTAACTGTTC	0.478																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	17											231.0	220.0	224.0					17																	40970380		2203	4300	6503	38223906	SO:0001583	missense	0			AF077301	CCDS11441.1	17q21	2014-02-12	2008-01-14		ENSG00000126581	ENSG00000126581			1034	protein-coding gene	gene with protein product	"""ATG6 autophagy related 6 homolog (S. cerevisiae)"""	604378	"""beclin 1 (coiled-coil, moesin-like BCL2 interacting protein)"""			9765397	Standard	NM_003766		Approved	ATG6, VPS30	uc002ibn.2	Q14457		ENST00000361523.4:c.542A>G	17.37:g.40970380T>C	ENSP00000355231:p.Gln181Arg	1400	2.51	36		38	50.00	38	38223906	330	45.50	278	B2R6N7|O75595|Q9UNA8	Missense_Mutation	SNP	HMMPfam_APG6	p.Q181R	ENST00000361523.4	37	c.542	CCDS11441.1	17	.	.	.	.	.	.	.	.	.	.	T	9.553	1.116423	0.20795	.	.	ENSG00000126581	ENST00000361523;ENST00000438274;ENST00000543382	T;T	0.42131	0.98;0.98	6.03	4.96	0.65561	.	0.302959	0.37577	N	0.002038	T	0.31327	0.0793	N	0.21373	0.66	0.20563	N	0.999883	B;B	0.34372	0.451;0.17	B;B	0.38106	0.265;0.079	T	0.16100	-1.0414	10	0.22706	T	0.39	.	12.1211	0.53891	0.0:0.0665:0.0:0.9335	.	105;181	E7EV84;Q14457	.;BECN1_HUMAN	R	181;105;94	ENSP00000355231:Q181R;ENSP00000416173:Q105R	ENSP00000355231:Q181R	Q	-	2	0	BECN1	38223906	0.999000	0.42202	0.713000	0.30519	0.870000	0.49936	3.897000	0.56273	1.101000	0.41535	0.533000	0.62120	CAG	-	HMMPfam_APG6		0.478	BECN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BECN1	protein_coding	OTTHUMT00000452405.1	T	NM_003766		38223906	-1	no_errors	NM_003766.3	genbank	human	validated	54_36p	missense	SNP	0.968	C
NLRP8	126205	genome.wustl.edu	37	19	56466946	56466946	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-2963-03A-01D-0739-09	TCGA-AB-2963-11A-01D-0739-09	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8876f6ab-618d-4096-9e98-4f2063ef03b1	21a5533c-8f5d-4047-8daa-0ad9d86ea2e3	g.chr19:56466946G>C	ENST00000291971.3	+	3	1593	c.1522G>C	c.(1522-1524)Gtg>Ctg	p.V508L	NLRP8_ENST00000590542.1_Missense_Mutation_p.V508L	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	508	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.V508L(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTTTACCCTCGTGACTTTTCA	0.463																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	19											204.0	194.0	197.0					19																	56466946		2203	4300	6503	61158758	SO:0001583	missense	0			AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1522G>C	19.37:g.56466946G>C	ENSP00000291971:p.Val508Leu	559	1.92	11		NA	NA	NA	61158758	379	46.56	332	Q7RTR4	Missense_Mutation	SNP	HMMSmart_SM00368,HMMPfam_PAAD_DAPIN,HMMPfam_NACHT,superfamily_DEATH domain,superfamily_RNI-like,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.V508L	ENST00000291971.3	37	c.1522	CCDS12937.1	19	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.156840	0.00028	.	.	ENSG00000179709	ENST00000291971	T	0.74315	-0.83	2.0	-4.01	0.04045	.	.	.	.	.	T	0.29914	0.0748	N	0.00507	-1.42	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.05903	-1.0857	9	0.02654	T	1	.	3.219	0.06708	0.1308:0.4377:0.268:0.1635	.	508;508	Q86W28-2;Q86W28	.;NALP8_HUMAN	L	508	ENSP00000291971:V508L	ENSP00000291971:V508L	V	+	1	0	NLRP8	61158758	0.001000	0.12720	0.000000	0.03702	0.042000	0.13812	-0.682000	0.05185	-3.681000	0.00122	-1.537000	0.00914	GTG	-	NULL		0.463	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP8	protein_coding	OTTHUMT00000457462.1	G	NM_176811		61158758	+1	no_errors	NM_176811.2	genbank	human	provisional	54_36p	missense	SNP	0.003	C
NBEAL1	65065	genome.wustl.edu	37	2	203905083	203905087	+	Intron	DEL	CATGC	CATGC	-			TCGA-AB-2963-03A-01D-0739-09	TCGA-AB-2963-11A-01D-0739-09	CATGC	CATGC	CATGC	-	CATGC	CATGC	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8876f6ab-618d-4096-9e98-4f2063ef03b1	21a5533c-8f5d-4047-8daa-0ad9d86ea2e3	g.chr2:203905083_203905087delCATGC	ENST00000449802.1	+	3	384				NBEAL1_ENST00000478884.1_Intron	NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1											NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GCCAGATAAACATGCCATGGCCTTT	0.439																																						dbGAP											0			2																																								203613332	SO:0001627	intron_variant	0			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.52-1401CATGC>-	2.37:g.203905083_203905087delCATGC		NA	NA	NA		NA	NA	NA	203613328	NA	NA	NA	A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Frame_Shift_Del	DEL	HMMPfam_Ribosomal_L30,superfamily_Ribosomal protein L30p/L7e,PatternScan_RIBOSOMAL_L30	p.A86fs	ENST00000449802.1	37	c.253_257	CCDS46495.1	2																																																																																			-	NULL		0.439	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100129743	protein_coding	OTTHUMT00000333982.4	CATGC			203613332	+1	pseudogene	XM_001724736.1	genbank	human	model	54_36p	frame_shift_del	DEL	0.952:0.949:0.939:0.920:0.925	-
NPM1	4869	genome.wustl.edu	37	5	170837547	170837548	+	Frame_Shift_Ins	INS	-	-	CCTG			TCGA-AB-2963-03A-01D-0739-09	TCGA-AB-2963-11A-01D-0739-09	-	-	-	CCTG	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8876f6ab-618d-4096-9e98-4f2063ef03b1	21a5533c-8f5d-4047-8daa-0ad9d86ea2e3	g.chr5:170837547_170837548insCCTG	ENST00000296930.5	+	11	1164_1165	c.863_864insCCTG	c.(862-867)tggcagfs	p.WQ288fs	NPM1_ENST00000517671.1_Frame_Shift_Ins_p.WQ288fs|NPM1_ENST00000351986.6_Frame_Shift_Ins_p.WQ259fs	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	288	Required for nucleolar localization.			WQWRKSL -> CLAVEEVSLRK (in Ref. 6; AAW67752/AAW67755). {ECO:0000305}.|WQWRKSL -> CMAVEEVSLRK (in Ref. 6; AAW67753 and 7; ABC40399). {ECO:0000305}.|WQWRKSL -> CVAVEEVSLRK (in Ref. 6; AAW67754). {ECO:0000305}.	cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)	p.W288fs*12(2114)|p.W288fs*10(9)|p.Q289fs*11(3)|p.W288*(1)	NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAAGATCTCTGGCAGTGGAGGA	0.312			"""T, F """	"""ALK, RARA, MLF1"""	"""NHL, APL, AML"""																																	dbGAP		Dom	yes		5	5q35	4869	"""nucleophosmin (nucleolar phosphoprotein B23, numatrin)"""		L	2127	Insertion - Frameshift(2118)|Complex - frameshift(8)|Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(2127)	5																																								170770153	SO:0001589	frameshift_variant	0			M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"""nucleolar phosphoprotein B23"", ""numatrin"", ""nucleophosmin/nucleoplasmin family, member 1"""	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	Exception_encountered	5.37:g.170837547_170837548insCCTG	ENSP00000296930:p.Trp288fs	NA	NA	NA		NA	NA	NA	170770152	NA	NA	NA	A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Frame_Shift_Ins	INS	HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain	p.W288fs	ENST00000296930.5	37	c.863_864	CCDS4376.1	5																																																																																			-	NULL		0.312	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPM1	protein_coding	OTTHUMT00000252858.2	-	NM_002520		170770153	+1	no_errors	NM_002520.1	genbank	human	validated	54_36p	frame_shift_ins	INS	1.000:1.000	CCTG
DAOA	267012	genome.wustl.edu	37	13	106142385	106142385	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AB-2963-03A-01D-0739-09	TCGA-AB-2963-11A-01D-0739-09	C	C	C	-	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8876f6ab-618d-4096-9e98-4f2063ef03b1	21a5533c-8f5d-4047-8daa-0ad9d86ea2e3	g.chr13:106142385delC	ENST00000375936.3	+	4	463	c.417delC	c.(415-417)gacfs	p.D139fs	DAOA_ENST00000329625.5_Frame_Shift_Del_p.D68fs|DAOA-AS1_ENST00000448407.1_RNA	NM_001161812.1|NM_172370.3	NP_001155284.1|NP_758958.3	P59103	DAOA_HUMAN	D-amino acid oxidase activator	139					negative regulation of D-amino-acid oxidase activity (GO:1900758)|positive regulation of catalytic activity (GO:0043085)	Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)	p.Q140fs*8(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	13	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					agcaaaaagaccagtcatgca	0.468																																						dbGAP											1	Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)	13											47.0	47.0	47.0					13																	106142385		1972	4170	6142	104940386	SO:0001589	frameshift_variant	0			AY138547	CCDS41905.1, CCDS53880.1, CCDS59242.1	13q33.2	2011-08-01			ENSG00000182346	ENSG00000182346			21191	protein-coding gene	gene with protein product	"""G72 transcript"""	607408				12364586, 15057823	Standard	NM_001161814		Approved	G72	uc010tjg.2	P59103	OTTHUMG00000041333	ENST00000375936.3:c.417delC	13.37:g.106142385delC	ENSP00000365103:p.Asp139fs	587	2.48	15		0	0.00	0	104940386	368	42.27	276	A6NKG7|Q0VAE6|Q5VX59|Q86Y17|Q8IWM4	Frame_Shift_Del	DEL	NULL	p.Q140fs	ENST00000375936.3	37	c.417	CCDS41905.1	13																																																																																			-	NULL		0.468	DAOA-005	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	DAOA	protein_coding	OTTHUMT00000099040.2	C	NM_172370		104940386	+1	no_errors	NM_172370.3	genbank	human	reviewed	54_36p	frame_shift_del	DEL	0.000	-
