#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_CAF	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	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_normal_ref_reads	i_normal_ref_reads_val	i_normal_vaf	i_normal_vaf_val	i_normal_var_reads	i_normal_var_reads_val	i_reference	i_refseq_mrna_id	i_rsID	i_rsID_ref_var_alleles	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_tumor_ref_reads	i_tumor_ref_reads_val	i_tumor_vaf	i_tumor_vaf_val	i_tumor_var_reads	i_tumor_var_reads_val	i_type	i_ucsc_cons	i_variant
MT-CO1	4512	genome.wustl.edu	37	M	2912	2912	+	5'Flank	SNP	C	C	T			TCGA-YT-A95H-01A-11D-A428-09	TCGA-YT-A95H-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ae12b51c-15e5-4aba-b4cd-681fdcbaa13e	5927d5ea-9271-45b9-a21d-ad042fd911d1	g.chrM:2912C>T	ENST00000361624.2	+	0	0				MT-TM_ENST00000387377.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-ND2_ENST00000361453.3_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TA_ENST00000387392.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I						aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						CAATAACTTGACCAACGGAAC	0.478																																							0											0																																										SO:0001631	upstream_gene_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395			M.37:g.2912C>T	Exception_encountered		Q34770	RNA	SNP	0	NULL	ENST00000361624.2	37	NULL		MT																																																																																			0	0		0.478	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	MT-RNR2	protein_coding		240	5	0	0.00	0	0	C	YP_003024028	0	0		2912	1	no_errors	ENST00000387347	ensembl	human	known	74_37	rna	60	1	54.2	66.67	71	2	SNP	NULL	T
PPT1	5538	genome.wustl.edu	37	1	40558098	40558098	+	Missense_Mutation	SNP	G	G	T			TCGA-YT-A95H-01A-11D-A428-09	TCGA-YT-A95H-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ae12b51c-15e5-4aba-b4cd-681fdcbaa13e	5927d5ea-9271-45b9-a21d-ad042fd911d1	g.chr1:40558098G>T	ENST00000433473.3	-	2	670	c.206C>A	c.(205-207)tCt>tAt	p.S69Y	PPT1_ENST00000449045.2_Intron	NM_000310.3	NP_000301.1	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1	69					adult locomotory behavior (GO:0008344)|associative learning (GO:0008306)|brain development (GO:0007420)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cofactor metabolic process (GO:0051186)|cofactor transport (GO:0051181)|grooming behavior (GO:0007625)|lipid catabolic process (GO:0016042)|lysosomal lumen acidification (GO:0007042)|membrane raft organization (GO:0031579)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neuron development (GO:0048666)|neurotransmitter secretion (GO:0007269)|pinocytosis (GO:0006907)|positive regulation of pinocytosis (GO:0048549)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein catabolic process (GO:0030163)|protein depalmitoylation (GO:0002084)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|regulation of phospholipase A2 activity (GO:0032429)|regulation of synapse structure and activity (GO:0050803)|sphingolipid catabolic process (GO:0030149)|visual perception (GO:0007601)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)	palmitoyl-(protein) hydrolase activity (GO:0008474)|palmitoyl-CoA hydrolase activity (GO:0016290)			endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1)	11	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AATCTCTAAAGATAAGACGTA	0.403																																							0											0													144.0	142.0	142.0					1																	40558098		2203	4300	6503	SO:0001583	missense	0			U44772	CCDS447.1, CCDS44119.1	1p32	2014-09-17	2008-07-31		ENSG00000131238	ENSG00000131238	3.1.2.22		9325	protein-coding gene	gene with protein product	"""ceroid-lipofuscinosis, neuronal 1, infantile"""	600722		PPT		7637805, 8325646	Standard	NM_000310		Approved	CLN1, INCL	uc001cfb.2	P50897	OTTHUMG00000004495	ENST00000433473.3:c.206C>A	1.37:g.40558098G>T	ENSP00000394863:p.Ser69Tyr		B4DY24|Q6FGQ4	Missense_Mutation	SNP	pfam_Palm_thioest,prints_Palm_thioest	p.S69Y	ENST00000433473.3	37	c.206	CCDS447.1	1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286599	0.80803	.	.	ENSG00000131238	ENST00000433473;ENST00000372779;ENST00000526547	D;D;D	0.97430	-4.38;-4.38;-4.38	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.98432	0.9478	M	0.88310	2.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.98977	1.0803	10	0.10636	T	0.68	-17.434	18.14	0.89636	0.0:0.0:1.0:0.0	.	19;69	B4DWU3;P50897	.;PPT1_HUMAN	Y	69;98;19	ENSP00000394863:S69Y;ENSP00000361865:S98Y;ENSP00000436481:S19Y	ENSP00000361865:S98Y	S	-	2	0	PPT1	40330685	1.000000	0.71417	0.881000	0.34555	0.955000	0.61496	9.072000	0.93986	2.693000	0.91896	0.650000	0.86243	TCT	0	pfam_Palm_thioest,prints_Palm_thioest		0.403	PPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPT1	protein_coding	OTTHUMT00000013126.2	59	671	0	0.00	0	0	G	NM_000310	0	0		40558098	-1	no_errors	ENST00000433473	ensembl	human	known	74_37	missense	55	222	14.06	7.82	9	19	SNP	0.998	T
AGAP4	119016	genome.wustl.edu	37	10	51225554	51225554	+	Silent	SNP	A	A	G			TCGA-YT-A95H-01A-11D-A428-09	TCGA-YT-A95H-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ae12b51c-15e5-4aba-b4cd-681fdcbaa13e	5927d5ea-9271-45b9-a21d-ad042fd911d1	g.chr10:51225554A>G	ENST00000425119.2	-	7	1553	c.1428T>C	c.(1426-1428)tgT>tgC	p.C476C	AGAP8_ENST00000602930.1_Silent_p.C460C	NM_001077686.1|NM_001276344.1	NP_001071154.1|NP_001263273.1	Q5SRD3	AGAP8_HUMAN		476	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|lung(2)|ovary(2)	6						AGCATTCAATACACATGAGGA	0.537																																							0											0													111.0	117.0	115.0					10																	51225554		2189	4268	6457	SO:0001819	synonymous_variant	0																														ENST00000425119.2:c.1428T>C	10.37:g.51225554A>G				Silent	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.C476	ENST00000425119.2	37	c.1428	CCDS41522.1	10																																																																																			0	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP		0.537	AGAP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AGAP8	protein_coding	OTTHUMT00000048022.2	123	99	0	0.00	0	0	A		0	0		51225554	-1	no_errors	ENST00000425119	ensembl	human	known	74_37	silent	129	34	9.79	5.56	14	2	SNP	1	G
MUC16	94025	genome.wustl.edu	37	19	9077478	9077478	+	Missense_Mutation	SNP	C	C	T			TCGA-YT-A95H-01A-11D-A428-09	TCGA-YT-A95H-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ae12b51c-15e5-4aba-b4cd-681fdcbaa13e	5927d5ea-9271-45b9-a21d-ad042fd911d1	g.chr19:9077478C>T	ENST00000397910.4	-	3	10171	c.9968G>A	c.(9967-9969)aGc>aAc	p.S3323N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3324	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCCTGTGATGCTTCTAGCAGT	0.527																																							0											0													115.0	110.0	111.0					19																	9077478		2022	4184	6206	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.9968G>A	19.37:g.9077478C>T	ENSP00000381008:p.Ser3323Asn		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.S3323N	ENST00000397910.4	37	c.9968	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	c	3.174	-0.169378	0.06461	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	1.57	-3.13	0.05266	.	.	.	.	.	T	0.01092	0.0036	N	0.08118	0	.	.	.	P	0.38148	0.62	B	0.25405	0.06	T	0.42258	-0.9462	8	0.87932	D	0	.	0.2339	0.00184	0.2067:0.2771:0.2051:0.3111	.	3323	B5ME49	.	N	3323	ENSP00000381008:S3323N	ENSP00000381008:S3323N	S	-	2	0	MUC16	8938478	0.000000	0.05858	0.000000	0.03702	0.091000	0.18340	-1.017000	0.03630	-1.272000	0.02427	0.205000	0.17691	AGC	0	NULL		0.527	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	35	381	0	0.00	0	0	C	NM_024690	0	0		9077478	-1	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	37	120	7.5	8.40	3	11	SNP	0	T
PRX	57716	genome.wustl.edu	37	19	40901939	40901939	+	Missense_Mutation	SNP	C	C	T	rs565407328		TCGA-YT-A95H-01A-11D-A428-09	TCGA-YT-A95H-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ae12b51c-15e5-4aba-b4cd-681fdcbaa13e	5927d5ea-9271-45b9-a21d-ad042fd911d1	g.chr19:40901939C>T	ENST00000324001.7	-	7	2590	c.2320G>A	c.(2320-2322)Gtg>Atg	p.V774M	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	774	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGCAGCTTCACCTCTGGTGCC	0.592																																							0											0													107.0	98.0	101.0					19																	40901939		2203	4300	6503	SO:0001583	missense	0			AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.2320G>A	19.37:g.40901939C>T	ENSP00000326018:p.Val774Met		Q9BXL9|Q9HCF2	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.V774M	ENST00000324001.7	37	c.2320	CCDS33028.1	19	.	.	.	.	.	.	.	.	.	.	C	3.404	-0.121646	0.06838	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.01106	5.33	5.15	-1.85	0.07784	.	0.501691	0.16653	N	0.205134	T	0.00815	0.0027	L	0.33485	1.01	0.37555	D	0.918864	B	0.29671	0.254	B	0.26310	0.068	T	0.58736	-0.7584	10	0.32370	T	0.25	-14.7726	1.5295	0.02532	0.2337:0.402:0.1153:0.249	.	774	Q9BXM0	PRAX_HUMAN	M	774	ENSP00000326018:V774M	ENSP00000326018:V774M	V	-	1	0	PRX	45593779	0.000000	0.05858	0.220000	0.23810	0.175000	0.22909	0.180000	0.16860	-0.092000	0.12417	0.655000	0.94253	GTG	0	NULL		0.592	PRX-001	KNOWN	basic|CCDS	protein_coding	PRX	protein_coding	OTTHUMT00000462582.1	14	197	0	0.00	0	0	C	NM_020956	0	0		40901939	-1	no_errors	ENST00000324001	ensembl	human	known	74_37	missense	14	61	26.32	6.15	5	4	SNP	0.035	T
SMPD4P1	645280	genome.wustl.edu	37	22	20977047	20977047	+	RNA	SNP	G	G	A			TCGA-YT-A95H-01A-11D-A428-09	TCGA-YT-A95H-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ae12b51c-15e5-4aba-b4cd-681fdcbaa13e	5927d5ea-9271-45b9-a21d-ad042fd911d1	g.chr22:20977047G>A	ENST00000443839.1	-	0	1487									sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) pseudogene 1																		CAGGATTCACGCGCCTCTGTA	0.562																																							0											0																																												0					22q11.21	2011-03-22			ENSG00000223553	ENSG00000223553			39673	pseudogene	pseudogene							Standard	NG_028286		Approved				OTTHUMG00000030245		22.37:g.20977047G>A				RNA	SNP	0	NULL	ENST00000443839.1	37	NULL		22																																																																																			0	0		0.562	SMPD4P1-002	KNOWN	basic	processed_transcript	SMPD4P1	pseudogene	OTTHUMT00000319965.1	43	447	0	0.00	0	0	G		0	0		20977047	-1	no_errors	ENST00000443839	ensembl	human	known	74_37	rna	35	141	7.89	4.05	3	6	SNP	0.704	A
FCAR	2204	genome.wustl.edu	37	19	55386792	55386793	+	Frame_Shift_Ins	INS	-	-	C	rs147036661	byFrequency	TCGA-YT-A95H-01A-11D-A428-09	TCGA-YT-A95H-10A-01D-A42B-09	-	-	-	C	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ae12b51c-15e5-4aba-b4cd-681fdcbaa13e	5927d5ea-9271-45b9-a21d-ad042fd911d1	g.chr19:55386792_55386793insC	ENST00000355524.3	+	2	51_52	c.41_42insC	c.(40-45)tgtctgfs	p.L15fs	FCAR_ENST00000353758.4_Intron|FCAR_ENST00000391723.3_Intron|FCAR_ENST00000391724.3_Intron|FCAR_ENST00000391725.3_Frame_Shift_Ins_p.L15fs|FCAR_ENST00000391726.3_Intron|FCAR_ENST00000359272.4_Intron|FCAR_ENST00000345937.4_Frame_Shift_Ins_p.L15fs|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000469767.1_Frame_Shift_Ins_p.L15fs	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	15					immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		CCAGTGCTCTGTCTGGGCCAGA	0.446																																							0											0																																										SO:0001589	frameshift_variant	0			X54150	CCDS12907.1, CCDS12908.1, CCDS12909.1, CCDS12910.1, CCDS42622.1, CCDS42623.1, CCDS42624.1, CCDS42625.1, CCDS46180.1	19q13.42	2013-01-29			ENSG00000186431	ENSG00000186431		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3608	protein-coding gene	gene with protein product		147045				1577457	Standard	NM_133269		Approved	CD89	uc002qhr.1	P24071	OTTHUMG00000065936	Exception_encountered	19.37:g.55386792_55386793insC	ENSP00000347714:p.Leu15fs		Q13603|Q13604|Q15727|Q15728|Q1AJL7|Q1AJL8|Q1AJL9|Q53X38|Q53X39|Q92587|Q92588|Q92590|Q92592|Q92593|Q9UEK0	Frame_Shift_Ins	INS	smart_Ig_sub	p.L15fs	ENST00000355524.3	37	c.41_42	CCDS12907.1	19																																																																																			0	NULL		0.446	FCAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCAR	protein_coding	OTTHUMT00000141243.1	26	556	0	0.00	0	0	0	NM_002000	0	0		55386793	1	no_errors	ENST00000355524	ensembl	human	known	74_37	frame_shift_ins	50	228	12.28	6.56	7	16	INS	1.000:1.000	C
MUC4	4585	genome.wustl.edu	37	3	195506314	195506314	+	Missense_Mutation	SNP	G	G	C			TCGA-YT-A95H-01A-11D-A428-09	TCGA-YT-A95H-10A-01D-A42B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae12b51c-15e5-4aba-b4cd-681fdcbaa13e	5927d5ea-9271-45b9-a21d-ad042fd911d1	g.chr3:195506314G>C	ENST00000463781.3	-	2	12596	c.12137C>G	c.(12136-12138)aCc>aGc	p.T4046S	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.T4046S|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AAGAGGGGTGGTGTCACCTGT	0.592																																							0											0													33.0	17.0	22.0					3																	195506314		598	1267	1865	SO:0001583	missense	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12137C>G	3.37:g.195506314G>C	ENSP00000417498:p.Thr4046Ser		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.T4046S	ENST00000463781.3	37	c.12137	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	g	5.109	0.205790	0.09704	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.32272	1.46;1.59	0.613	0.613	0.17597	.	0.326178	0.13539	U	0.380396	T	0.12390	0.0301	N	0.19112	0.55	0.09310	N	1	P	0.38110	0.618	B	0.25759	0.063	T	0.14587	-1.0467	9	.	.	.	.	4.4949	0.11831	0.0:0.4229:0.577:1.0E-4	.	3918	E7ESK3	.	S	4046	ENSP00000417498:T4046S;ENSP00000420243:T4046S	.	T	-	2	0	MUC4	196991093	0.000000	0.05858	0.008000	0.14137	0.094000	0.18550	-1.107000	0.03316	0.625000	0.30304	0.064000	0.15345	ACC	0	NULL		0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	protein_coding	OTTHUMT00000324081.6	23	29	4.17	0.00	1	0	G	NM_018406	0	0		195506314	-1	no_errors	ENST00000463781	ensembl	human	known	74_37	missense	27	3	12.9	0.00	4	0	SNP	0	C
HYDIN	54768	genome.wustl.edu	37	16	70977762	70977762	+	Missense_Mutation	SNP	C	C	T			TCGA-YT-A95H-01A-11D-A428-09	TCGA-YT-A95H-10A-01D-A42B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae12b51c-15e5-4aba-b4cd-681fdcbaa13e	5927d5ea-9271-45b9-a21d-ad042fd911d1	g.chr16:70977762C>T	ENST00000393567.2	-	42	6772	c.6622G>A	c.(6622-6624)Gtg>Atg	p.V2208M		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2208					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TCCGGGAGCACACAGCTCATC	0.622																																							0											0													34.0	35.0	35.0					16																	70977762		2031	4188	6219	SO:0001583	missense	0			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.6622G>A	16.37:g.70977762C>T	ENSP00000377197:p.Val2208Met		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_P-loop_NTPase,superfamily_PapD-like	p.V2208M	ENST00000393567.2	37	c.6622	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	C	12.29	1.892394	0.33442	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01051	5.4	4.95	4.95	0.65309	.	0.000000	0.30085	U	0.010441	T	0.07007	0.0178	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.07271	-1.0781	10	0.66056	D	0.02	.	18.1532	0.89682	0.0:1.0:0.0:0.0	.	2207	F8WD23	.	M	2208;2207	ENSP00000377197:V2208M	ENSP00000313052:V2207M	V	-	1	0	HYDIN	69535263	0.982000	0.34865	1.000000	0.80357	0.618000	0.37518	2.209000	0.42806	2.442000	0.82660	0.609000	0.83330	GTG	0	superfamily_P-loop_NTPase		0.622	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	protein_coding	OTTHUMT00000398624.3	19	18	0	0.00	0	0	C		0	0		70977762	-1	no_errors	ENST00000393567	ensembl	human	putative	74_37	missense	9	1	30.77	0.00	4	0	SNP	1	T
DGKZ	8525	genome.wustl.edu	37	11	46400561	46400562	+	Frame_Shift_Ins	INS	-	-	G			TCGA-YT-A95H-01A-11D-A428-09	TCGA-YT-A95H-10A-01D-A42B-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae12b51c-15e5-4aba-b4cd-681fdcbaa13e	5927d5ea-9271-45b9-a21d-ad042fd911d1	g.chr11:46400561_46400562insG	ENST00000454345.1	+	29	3128_3129	c.3003_3004insG	c.(3004-3006)gggfs	p.G1002fs	DGKZ_ENST00000421244.2_Frame_Shift_Ins_p.G814fs|MDK_ENST00000395565.1_5'Flank|DGKZ_ENST00000395574.3_Frame_Shift_Ins_p.G780fs|DGKZ_ENST00000528615.1_Frame_Shift_Ins_p.G592fs|MDK_ENST00000359803.3_5'Flank|DGKZ_ENST00000318201.8_Frame_Shift_Ins_p.G791fs|DGKZ_ENST00000543978.1_Frame_Shift_Ins_p.G166fs|DGKZ_ENST00000532868.2_Frame_Shift_Ins_p.G818fs|MDK_ENST00000405308.2_5'Flank|MDK_ENST00000395569.4_5'Flank|DGKZ_ENST00000456247.2_Frame_Shift_Ins_p.G813fs|DGKZ_ENST00000343674.6_Frame_Shift_Ins_p.G830fs|DGKZ_ENST00000527911.1_Frame_Shift_Ins_p.G814fs|MDK_ENST00000407067.1_5'Flank|MIR4688_ENST00000577966.1_RNA|MDK_ENST00000395566.4_5'Flank	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	1002					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		TGCACCGAGCTGGGGGCGACCT	0.683																																							0											0																																										SO:0001589	frameshift_variant	0			U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"""diacylglycerol kinase, zeta 104kDa"""			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.3008dupG	11.37:g.46400566_46400566dupG	ENSP00000412178:p.Gly1002fs		B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Frame_Shift_Ins	INS	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.D1003fs	ENST00000454345.1	37	c.3003_3004	CCDS41640.1	11																																																																																			0	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.683	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKZ	protein_coding	OTTHUMT00000389772.1	8	30	0	0.00	0	0	0	NM_001105540	0	0		46400562	1	no_errors	ENST00000454345	ensembl	human	known	74_37	frame_shift_ins	4	9	33.33	0.00	2	0	INS	0.572:1.000	G
GAREM	64762	genome.wustl.edu	37	18	29992351	29992351	+	Intron	DEL	A	A	-			TCGA-YT-A95H-01A-11D-A428-09	TCGA-YT-A95H-10A-01D-A42B-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae12b51c-15e5-4aba-b4cd-681fdcbaa13e	5927d5ea-9271-45b9-a21d-ad042fd911d1	g.chr18:29992351delA	ENST00000269209.6	-	2	125				AC021224.1_ENST00000573479.1_lincRNA|GAREM_ENST00000399218.4_Intron			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1						cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										TGTAATTGCCAAAATCATTGT	0.478																																							0											0																																										SO:0001627	intron_variant	0			AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"""Grb2-associated and regulator of Erk/MAPK"""		"""chromosome 18 open reading frame 11"", ""family with sequence similarity 59, member A"""	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.122-19353T>-	18.37:g.29992351delA			Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	RNA	DEL	0	NULL	ENST00000269209.6	37	NULL	CCDS56057.1	18																																																																																			0	0		0.478	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000262477	protein_coding	OTTHUMT00000255365.1	20	0	0	0.00	0	0	A	NM_022751	0	0		29992351	1	no_errors	ENST00000573479	ensembl	human	novel	74_37	rna	20	0	13.04	0.00	3	0	DEL	0.999	0
GATAD2A	54815	genome.wustl.edu	37	19	19612169	19612170	+	Frame_Shift_Ins	INS	-	-	C			TCGA-YT-A95H-01A-11D-A428-09	TCGA-YT-A95H-10A-01D-A42B-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae12b51c-15e5-4aba-b4cd-681fdcbaa13e	5927d5ea-9271-45b9-a21d-ad042fd911d1	g.chr19:19612169_19612170insC	ENST00000360315.3	+	9	1756_1757	c.1444_1445insC	c.(1444-1446)gccfs	p.A482fs	GATAD2A_ENST00000358713.3_Frame_Shift_Ins_p.A482fs|GATAD2A_ENST00000429563.2_Frame_Shift_Ins_p.A310fs|GATAD2A_ENST00000404158.1_Frame_Shift_Ins_p.A483fs|GATAD2A_ENST00000537887.1_Frame_Shift_Ins_p.A111fs|GATAD2A_ENST00000252577.5_Frame_Shift_Ins_p.A482fs	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	482					anterior neuropore closure (GO:0021506)|blood vessel development (GO:0001568)|DNA methylation (GO:0006306)|embryonic body morphogenesis (GO:0010172)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|neural fold formation (GO:0001842)|programmed cell death (GO:0012501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|NuRD complex (GO:0016581)	protein binding, bridging (GO:0030674)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						GCAGGGCACGGCCCCTGCACAG	0.693																																							0											0																																										SO:0001589	frameshift_variant	0			AL390164	CCDS12402.2	19p13.11	2013-01-25			ENSG00000167491	ENSG00000167491		"""GATA zinc finger domain containing"""	29989	protein-coding gene	gene with protein product	"""p66 alpha"""	614997				12183469	Standard	NM_017660		Approved	p66alpha	uc010xqt.2	Q86YP4	OTTHUMG00000152541	ENST00000360315.3:c.1448dupC	19.37:g.19612173_19612173dupC	ENSP00000353463:p.Ala482fs		B5MC40|Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	Frame_Shift_Ins	INS	pfam_Znf_GATA,pfscan_Znf_GATA	p.A484fs	ENST00000360315.3	37	c.1444_1445	CCDS12402.2	19																																																																																			0	NULL		0.693	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATAD2A	protein_coding	OTTHUMT00000326671.4	12	22	0	0.00	0	0	0	NM_017660	0	0		19612170	1	no_errors	ENST00000358713	ensembl	human	known	74_37	frame_shift_ins	12	6	14.29	0.00	2	0	INS	0.612:0.646	C
