#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_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	i_Algorithm	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_Codon	i_COSMIC_Gene	i_COSMIC_Gene_Freq	i_COSMIC_Site_Freq	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Confidence	i_Drug_Target	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_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	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_NTotCov	i_NVarCov	i_NVarRat	i_ORegAnno_bin	i_TTotCov	i_TVarCov	i_TVarRat	i_Transcript_Id	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	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_dbSNPPopFreq	i_dbSNP_AF	i_dbSNP_PopFreq	i_dbSNP_Strength	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_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
AMD1	262	hgsc.bcm.edu	37	6	111208734	111208734	+	Missense_Mutation	SNP	A	A	G			TCGA-AL-3467-01A-01D-1252-08	TCGA-AL-3467-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a74ffd4b-fa89-49ae-aa1d-3052a5440fa2	2ab402fb-392f-4441-a979-713a602c9cd3	g.chr6:111208734A>G	ENST00000368885.3	+	2	473	c.137A>G	c.(136-138)gAt>gGt	p.D46G	AMD1_ENST00000451850.2_Intron|AMD1_ENST00000368877.5_Intron|AMD1_ENST00000368876.1_5'UTR|AMD1_ENST00000368882.3_Intron	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1	46					cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|S-adenosylmethioninamine biosynthetic process (GO:0006557)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)	adenosylmethionine decarboxylase activity (GO:0004014)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	CTTTTGAAGGATGTGCAATGT	0.353																																					p.D46G		Atlas-SNP	.											.	AMD1	23	.	0			c.A137G						PASS	.						180.0	175.0	177.0					6																	111208734		2203	4300	6503	SO:0001583	missense	262	exon2			TGAAGGATGTGCA	M88006	CCDS5086.1, CCDS75504.1, CCDS75505.1	6q21	2014-05-13			ENSG00000123505	ENSG00000123505	4.1.1.50		457	protein-coding gene	gene with protein product		180980	"""S-adenosylmethionine decarboxylase 1"""				Standard	NM_001634		Approved	SAMDC	uc003puk.1	P17707	OTTHUMG00000015369	ENST00000368885.3:c.137A>G	chr6.hg19:g.111208734A>G	ENSP00000357880:p.Asp46Gly	271.0	0.0	.		305.0	53.0	.	NM_001634	E1P5F7|Q5VXN4|Q5VXN6|Q9BWK4	Missense_Mutation	SNP	ENST00000368885.3	hg19	CCDS5086.1	.	.	.	.	.	.	.	.	.	.	A	12.71	2.020888	0.35606	.	.	ENSG00000123505	ENST00000368885	.	.	.	5.46	4.31	0.51392	S-adenosylmethionine decarboxylase, core (2);	0.184022	0.56097	N	0.000026	T	0.18002	0.0432	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.16722	0.016	T	0.06391	-1.0829	9	0.21014	T	0.42	.	11.2686	0.49124	0.9284:0.0:0.0716:0.0	.	46	P17707	DCAM_HUMAN	G	46	.	ENSP00000357880:D46G	D	+	2	0	AMD1	111315427	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	8.803000	0.91915	1.021000	0.39600	0.482000	0.46254	GAT	.	.	.	none		0.353	AMD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041816.1		
SNX13	23161	hgsc.bcm.edu	37	7	17836512	17836512	+	Missense_Mutation	SNP	T	T	C			TCGA-AL-3467-01A-01D-1252-08	TCGA-AL-3467-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a74ffd4b-fa89-49ae-aa1d-3052a5440fa2	2ab402fb-392f-4441-a979-713a602c9cd3	g.chr7:17836512T>C	ENST00000409389.1	-	25	2769	c.2597A>G	c.(2596-2598)gAt>gGt	p.D866G	SNX13_ENST00000496855.1_5'UTR|SNX13_ENST00000428135.3_Missense_Mutation_p.D855G			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	866					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					AATACTTTTATCTCTGCATGG	0.318																																					p.D855G		Atlas-SNP	.											.	SNX13	113	.	0			c.A2564G						PASS	.						186.0	172.0	176.0					7																	17836512		1832	4093	5925	SO:0001583	missense	23161	exon25			CTTTTATCTCTGC	AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"""Sorting nexins"""	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.2597A>G	chr7.hg19:g.17836512T>C	ENSP00000386705:p.Asp866Gly	288.0	0.0	.		149.0	14.0	.	NM_015132	B2RCI9|O94821|Q8WVZ2|Q8WXH8	Missense_Mutation	SNP	ENST00000409389.1	hg19		.	.	.	.	.	.	.	.	.	.	T	24.8	4.576015	0.86645	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	T;T	0.30714	1.52;1.52	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.52901	0.1763	M	0.65498	2.005	0.80722	D	1	D;P;D	0.67145	0.996;0.943;0.995	D;P;D	0.67548	0.952;0.867;0.94	T	0.55509	-0.8130	10	0.59425	D	0.04	-15.4175	15.4601	0.75349	0.0:0.0:0.0:1.0	.	652;866;855	B3KN60;B8ZZT9;Q9Y5W8-2	.;.;.	G	866;855;903	ENSP00000386705:D866G;ENSP00000398789:D855G	ENSP00000242044:D903G	D	-	2	0	SNX13	17803037	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.698000	0.84413	2.046000	0.60703	0.455000	0.32223	GAT	.	.	.	none		0.318	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	NM_015132	
BRAF	673	hgsc.bcm.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-AL-3467-01A-01D-1252-08	TCGA-AL-3467-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a74ffd4b-fa89-49ae-aa1d-3052a5440fa2	2ab402fb-392f-4441-a979-713a602c9cd3	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												p.V600E	Colon(40;35 892 2973 5743 27438)	Atlas-SNP	.		Dom	yes		7	7q34	673	v-raf murine sarcoma viral oncogene homolog B1	yes	E	BRAF,NS,adenoma,0,1	BRAF	36346	.	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	c.T1799A						PASS	.						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	exon15	Familial Cancer Database	CFC, CFCS	GATTTCACTGTAG	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	chr7.hg19:g.140453136A>T	ENSP00000288602:p.Val600Glu	189.0	0.0	.		127.0	50.0	.	NM_004333	A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	hg19	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA	.	.	.	weak		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333	
GYLTL1B	120071	hgsc.bcm.edu	37	11	45948105	45948105	+	Missense_Mutation	SNP	A	A	C			TCGA-AL-3467-01A-01D-1252-08	TCGA-AL-3467-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a74ffd4b-fa89-49ae-aa1d-3052a5440fa2	2ab402fb-392f-4441-a979-713a602c9cd3	g.chr11:45948105A>C	ENST00000531526.1	+	9	1232	c.1121A>C	c.(1120-1122)gAg>gCg	p.E374A	GYLTL1B_ENST00000389968.3_Missense_Mutation_p.E101A|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.E343A|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.E343A|GYLTL1B_ENST00000401752.1_Missense_Mutation_p.E374A|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.E374A	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	374					muscle cell cellular homeostasis (GO:0046716)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		CTGCGGAGAGAGCTCTTTGTG	0.567																																					p.E374A		Atlas-SNP	.											.	GYLTL1B	45	.	0			c.A1121C						PASS	.						72.0	74.0	74.0					11																	45948105		2203	4299	6502	SO:0001583	missense	120071	exon9			GGAGAGAGCTCTT		CCDS31473.1	11p11.12	2013-02-22			ENSG00000165905	ENSG00000165905		"""Glycosyltransferase family 8 domain containing"""	16522	protein-coding gene	gene with protein product		609709				15661757, 15958417	Standard	XM_005252785		Approved	PP5656, FLJ35207, LARGE2	uc001nbv.1	Q8N3Y3	OTTHUMG00000167037	ENST00000531526.1:c.1121A>C	chr11.hg19:g.45948105A>C	ENSP00000432869:p.Glu374Ala	92.0	0.0	.		104.0	35.0	.	NM_152312	A6NN75|Q8N8Y6|Q8NAK3|Q8WY62	Missense_Mutation	SNP	ENST00000531526.1	hg19	CCDS31473.1	.	.	.	.	.	.	.	.	.	.	A	16.53	3.148701	0.57151	.	.	ENSG00000165905	ENST00000529052;ENST00000531526;ENST00000401752;ENST00000389968;ENST00000325468;ENST00000536139;ENST00000534410	T;T;T;D;T;T	0.83419	0.88;0.87;0.87;-1.72;0.87;0.88	5.45	4.32	0.51571	.	0.000000	0.85682	D	0.000000	T	0.80854	0.4703	M	0.66939	2.045	0.80722	D	1	P;B;B	0.36027	0.533;0.204;0.102	B;B;B	0.36418	0.224;0.099;0.068	T	0.79135	-0.1928	10	0.52906	T	0.07	-26.8748	11.3948	0.49836	0.9288:0.0:0.0712:0.0	.	343;343;374	B3KP69;E9PIZ2;Q8N3Y3	.;.;LARG2_HUMAN	A	343;374;374;101;374;343;35	ENSP00000431932:E343A;ENSP00000432869:E374A;ENSP00000385235:E374A;ENSP00000374618:E101A;ENSP00000324570:E374A;ENSP00000445044:E343A	ENSP00000324570:E374A	E	+	2	0	GYLTL1B	45904681	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.158000	0.77470	0.909000	0.36697	-0.411000	0.06167	GAG	.	.	.	none		0.567	GYLTL1B-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392572.1	NM_152312	
CPNE6	9362	hgsc.bcm.edu	37	14	24544466	24544466	+	Missense_Mutation	SNP	C	C	A			TCGA-AL-3467-01A-01D-1252-08	TCGA-AL-3467-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a74ffd4b-fa89-49ae-aa1d-3052a5440fa2	2ab402fb-392f-4441-a979-713a602c9cd3	g.chr14:24544466C>A	ENST00000397016.2	+	9	1069	c.758C>A	c.(757-759)aCg>aAg	p.T253K	CPNE6_ENST00000537691.1_Missense_Mutation_p.T308K|CPNE6_ENST00000216775.2_Missense_Mutation_p.T253K	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN	copine VI (neuronal)	253					lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		CAGGAAGGGACGGCAAACCCT	0.567																																					p.T253K		Atlas-SNP	.											.	CPNE6	40	.	0			c.C758A						PASS	.						111.0	106.0	107.0					14																	24544466		2203	4300	6503	SO:0001583	missense	9362	exon8			AAGGGACGGCAAA	AB009288	CCDS9607.1, CCDS61413.1	14q11.2	2008-07-09			ENSG00000100884	ENSG00000100884			2319	protein-coding gene	gene with protein product		605688				9645480	Standard	NM_001280558		Approved		uc001wll.3	O95741	OTTHUMG00000028781	ENST00000397016.2:c.758C>A	chr14.hg19:g.24544466C>A	ENSP00000380211:p.Thr253Lys	250.0	1.0	.		271.0	121.0	.	NM_006032	B2RAG6|B7Z1M3|D3DS55|F5GXN1|Q53HA6|Q8WVG1	Missense_Mutation	SNP	ENST00000397016.2	hg19	CCDS9607.1	.	.	.	.	.	.	.	.	.	.	C	3.945	-0.013372	0.07727	.	.	ENSG00000100884	ENST00000537691;ENST00000397016;ENST00000216775	T;T;T	0.06294	3.32;3.34;3.34	5.13	5.13	0.70059	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000007	T	0.03783	0.0107	N	0.05487	-0.04	0.21020	N	0.999808	P;B	0.39326	0.668;0.192	B;B	0.40901	0.343;0.122	T	0.39165	-0.9627	10	0.05721	T	0.95	-31.3802	13.9546	0.64140	0.0:1.0:0.0:0.0	.	308;253	F5GXN1;O95741	.;CPNE6_HUMAN	K	308;253;253	ENSP00000440077:T308K;ENSP00000380211:T253K;ENSP00000216775:T253K	ENSP00000216775:T253K	T	+	2	0	CPNE6	23614306	0.908000	0.30866	0.997000	0.53966	0.900000	0.52787	0.035000	0.13797	2.676000	0.91093	0.467000	0.42956	ACG	.	.	.	none		0.567	CPNE6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071869.5		
NPAS3	64067	hgsc.bcm.edu	37	14	34263109	34263109	+	Missense_Mutation	SNP	A	A	G			TCGA-AL-3467-01A-01D-1252-08	TCGA-AL-3467-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a74ffd4b-fa89-49ae-aa1d-3052a5440fa2	2ab402fb-392f-4441-a979-713a602c9cd3	g.chr14:34263109A>G	ENST00000356141.4	+	10	1160	c.1160A>G	c.(1159-1161)aAt>aGt	p.N387S	NPAS3_ENST00000346562.2_Missense_Mutation_p.N355S|NPAS3_ENST00000548645.1_Missense_Mutation_p.N357S|NPAS3_ENST00000357798.5_Missense_Mutation_p.N374S|NPAS3_ENST00000551492.1_Missense_Mutation_p.N392S			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	387	PAC.|PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CCAGTGCTGAATAAGGGTCAG	0.368																																					p.N387S		Atlas-SNP	.											.	NPAS3	266	.	0			c.A1160G						PASS	.						107.0	102.0	103.0					14																	34263109		2203	4300	6503	SO:0001583	missense	64067	exon10			TGCTGAATAAGGG	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.1160A>G	chr14.hg19:g.34263109A>G	ENSP00000348460:p.Asn387Ser	196.0	0.0	.		199.0	16.0	.	NM_001164749	Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Missense_Mutation	SNP	ENST00000356141.4	hg19	CCDS53891.1	.	.	.	.	.	.	.	.	.	.	A	12.93	2.085130	0.36758	.	.	ENSG00000151322	ENST00000551634;ENST00000551492;ENST00000346562;ENST00000548645;ENST00000356141;ENST00000357798	T;T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32;2.32	5.79	5.79	0.91817	PAS fold-3 (1);PAS (2);	0.000000	0.85682	D	0.000000	T	0.10766	0.0263	N	0.04297	-0.235	0.80722	D	1	P;B;P;P	0.35542	0.508;0.351;0.508;0.508	B;B;B;B	0.37304	0.234;0.246;0.234;0.234	T	0.31696	-0.9934	10	0.39692	T	0.17	.	16.1299	0.81422	1.0:0.0:0.0:0.0	.	357;387;355;374	Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3	.;NPAS3_HUMAN;.;.	S	364;392;355;357;387;374	ENSP00000448373:N364S;ENSP00000450392:N392S;ENSP00000319610:N355S;ENSP00000448916:N357S;ENSP00000348460:N387S;ENSP00000350446:N374S	ENSP00000319610:N355S	N	+	2	0	NPAS3	33332860	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.292000	0.72725	2.213000	0.71641	0.455000	0.32223	AAT	.	.	.	none		0.368	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1		
MYZAP	100820829	hgsc.bcm.edu	37	15	57922023	57922023	+	Missense_Mutation	SNP	C	C	G			TCGA-AL-3467-01A-01D-1252-08	TCGA-AL-3467-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a74ffd4b-fa89-49ae-aa1d-3052a5440fa2	2ab402fb-392f-4441-a979-713a602c9cd3	g.chr15:57922023C>G	ENST00000267853.5	+	6	743	c.649C>G	c.(649-651)Caa>Gaa	p.Q217E	GCOM1_ENST00000587652.1_Missense_Mutation_p.Q217E|GCOM1_ENST00000396180.1_Missense_Mutation_p.Q186E|GCOM1_ENST00000380569.2_Missense_Mutation_p.Q217E|GCOM1_ENST00000572390.1_Missense_Mutation_p.Q217E|GCOM1_ENST00000380560.2_Missense_Mutation_p.Q148E|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380568.3_Missense_Mutation_p.Q217E|GCOM1_ENST00000574161.1_Missense_Mutation_p.Q217E|MYZAP_ENST00000380565.4_Missense_Mutation_p.Q217E|GCOM1_ENST00000380561.2_Missense_Mutation_p.Q186E			P0CAP1	MYZAP_HUMAN	myocardial zonula adherens protein	217					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|I band (GO:0031674)											GGAGGTAGCGCAAGTTGAAAA	0.413																																					p.Q217E		Atlas-SNP	.											.	GCOM1	66	.	0			c.C649G						PASS	.						95.0	90.0	92.0					15																	57922023		2192	4292	6484	SO:0001583	missense	145781	exon6			GTAGCGCAAGTTG	FJ970029		15q21.3	2012-10-05			ENSG00000263155	ENSG00000263155			43444	protein-coding gene	gene with protein product	"""myocardium-enriched zonula adherens protein"""	614071				20093627, 21992629, 22160502	Standard	NM_001018100		Approved	MYOZAP, Gup, Gup1, GCOM1		P0CAP1	OTTHUMG00000132453	ENST00000267853.5:c.649C>G	chr15.hg19:g.57922023C>G	ENSP00000267853:p.Gln217Glu	114.0	0.0	.		109.0	5.0	.	NM_001018090	D2E9U7|Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5	Missense_Mutation	SNP	ENST00000267853.5	hg19	CCDS10162.1	.	.	.	.	.	.	.	.	.	.	C	8.397	0.841141	0.16891	.	.	ENSG00000137878	ENST00000380569;ENST00000380561;ENST00000396180;ENST00000380560;ENST00000267853;ENST00000380565;ENST00000380568	T;T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01;1.01	5.43	3.54	0.40534	.	0.231577	0.44688	D	0.000424	T	0.37652	0.1011	L	0.56769	1.78	0.43326	D	0.995354	P;P;P;B	0.43024	0.544;0.798;0.544;0.402	B;B;B;B	0.44044	0.346;0.439;0.346;0.346	T	0.14172	-1.0482	10	0.13108	T	0.6	-7.7731	7.7864	0.29095	0.2881:0.6345:0.0:0.0774	.	217;217;217;217	P0CAP1-2;P0CAP1-11;P0CAP1-4;P0CAP1	.;.;.;GCOM1_HUMAN	E	217;186;186;148;217;217;217	ENSP00000369943:Q217E;ENSP00000369935:Q186E;ENSP00000379483:Q186E;ENSP00000369933:Q148E;ENSP00000267853:Q217E;ENSP00000369939:Q217E;ENSP00000369942:Q217E	ENSP00000267853:Q217E	Q	+	1	0	GCOM1	55709315	0.992000	0.36948	0.004000	0.12327	0.268000	0.26511	3.376000	0.52417	0.642000	0.30620	0.650000	0.86243	CAA	.	.	.	none		0.413	MYZAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255716.2	NM_001018100	
SRCAP	10847	hgsc.bcm.edu	37	16	30745323	30745323	+	Missense_Mutation	SNP	C	C	G			TCGA-AL-3467-01A-01D-1252-08	TCGA-AL-3467-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a74ffd4b-fa89-49ae-aa1d-3052a5440fa2	2ab402fb-392f-4441-a979-713a602c9cd3	g.chr16:30745323C>G	ENST00000262518.4	+	30	6988	c.6603C>G	c.(6601-6603)ttC>ttG	p.F2201L	SRCAP_ENST00000395059.2_Missense_Mutation_p.F2139L|SRCAP_ENST00000344771.4_Missense_Mutation_p.F2043L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2201					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CAGCCTATTTCAAACAGGTAC	0.453																																					p.F2201L		Atlas-SNP	.											SRCAP,NS,carcinoma,0,2	SRCAP	298	.	0			c.C6603G						PASS	.						67.0	60.0	63.0					16																	30745323		2197	4300	6497	SO:0001583	missense	10847	exon30			CTATTTCAAACAG	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.6603C>G	chr16.hg19:g.30745323C>G	ENSP00000262518:p.Phe2201Leu	27.0	0.0	.		34.0	2.0	.	NM_006662	B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	hg19	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	11.79	1.744801	0.30865	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	T;T;T	0.07800	3.16;3.16;3.16	5.24	2.95	0.34219	.	0.380726	0.22784	N	0.055681	T	0.11367	0.0277	N	0.13003	0.285	0.31625	N	0.649832	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.985	T	0.11446	-1.0587	10	0.34782	T	0.22	-14.3882	7.2742	0.26275	0.0:0.329:0.0:0.671	.	2139;2201	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	L	2201;2139;2043	ENSP00000262518:F2201L;ENSP00000378499:F2139L;ENSP00000343042:F2043L	ENSP00000262518:F2201L	F	+	3	2	SRCAP	30652824	0.995000	0.38212	1.000000	0.80357	0.948000	0.59901	0.370000	0.20433	0.414000	0.25790	-0.414000	0.06135	TTC	.	.	.	none		0.453	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662	
CDH8	1006	hgsc.bcm.edu	37	16	61891030	61891031	+	Missense_Mutation	DNP	AG	AG	CT			TCGA-AL-3467-01A-01D-1252-08	TCGA-AL-3467-10A-01D-1252-08	A|G	A|G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a74ffd4b-fa89-49ae-aa1d-3052a5440fa2	2ab402fb-392f-4441-a979-713a602c9cd3	g.chr16:61891030_61891031AG>CT	ENST00000577390.1	-	4	1613_1614	c.659_660CT>AG	c.(658-660)cCT>cAG	p.P220Q	CDH8_ENST00000584337.1_Missense_Mutation_p.P220Q|CDH8_ENST00000299345.6_Missense_Mutation_p.P220Q|CDH8_ENST00000577730.1_Missense_Mutation_p.P220Q	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	220	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		AACCTGTTTCAGGCTCAATGGA	0.391																																					p.P220P|p.P220H		Atlas-SNP	.											.	CDH8	273	.	0			c.T660G|c.C659A						PASS	.																																			SO:0001583	missense	1006	exon4			TGTTTCAGGCTCA|GTTTCAGGCTCAA	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.659_660delinsCT	chr16.hg19:g.61891030_61891031delinsCT	ENSP00000462701:p.Pro220Gln	146.0|145.0	0.0	.		109.0|108.0	35.0|34.0	.	NM_001796	B3KWC1|Q14DC6|Q9ULB2	Silent|Missense_Mutation	SNP	ENST00000577390.1	hg19	CCDS10802.1																																																																																			.	.	.	none		0.391	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796	
CDC27	996	hgsc.bcm.edu	37	17	45249350	45249350	+	Missense_Mutation	SNP	T	T	C			TCGA-AL-3467-01A-01D-1252-08	TCGA-AL-3467-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a74ffd4b-fa89-49ae-aa1d-3052a5440fa2	2ab402fb-392f-4441-a979-713a602c9cd3	g.chr17:45249350T>C	ENST00000066544.3	-	3	277	c.184A>G	c.(184-186)Aaa>Gaa	p.K62E	CDC27_ENST00000527547.1_Missense_Mutation_p.K62E|RP5-867C24.5_ENST00000572193.1_RNA|CDC27_ENST00000531206.1_Missense_Mutation_p.K62E|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000446365.2_Intron	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	62					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CTGTGTCCTTTCAAGAGTCTA	0.348																																					p.K62E		Atlas-SNP	.											CDC27_ENST00000531206,NS,carcinoma,0,2	CDC27	337	.	0			c.A184G						PASS	.						42.0	41.0	41.0					17																	45249350		2202	4300	6502	SO:0001583	missense	996	exon3			GTCCTTTCAAGAG	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.184A>G	chr17.hg19:g.45249350T>C	ENSP00000066544:p.Lys62Glu	99.0	2.0	.		80.0	4.0	.	NM_001114091	G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	hg19	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	T	19.40	3.820387	0.71028	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000527547;ENST00000526866	T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76	5.69	5.69	0.88448	Tetratricopeptide-like helical (1);	0.518646	0.23036	N	0.052667	T	0.70971	0.3285	L	0.39467	1.215	0.80722	D	1	B;P;P	0.46578	0.314;0.499;0.88	B;B;P	0.45099	0.082;0.112;0.469	T	0.74754	-0.3558	10	0.72032	D	0.01	-34.4674	13.8831	0.63693	0.0:0.0:0.0:1.0	.	62;62;62	G5EA36;G3V1C4;P30260	.;.;CDC27_HUMAN	E	62	ENSP00000066544:K62E;ENSP00000434614:K62E;ENSP00000437339:K62E;ENSP00000432105:K62E	ENSP00000066544:K62E	K	-	1	0	CDC27	42604349	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.803000	0.85983	2.173000	0.68751	0.482000	0.46254	AAA	.	.	.	none		0.348	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2		
TBX4	9496	hgsc.bcm.edu	37	17	59560359	59560359	+	Missense_Mutation	SNP	G	G	A			TCGA-AL-3467-01A-01D-1252-08	TCGA-AL-3467-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a74ffd4b-fa89-49ae-aa1d-3052a5440fa2	2ab402fb-392f-4441-a979-713a602c9cd3	g.chr17:59560359G>A	ENST00000240335.1	+	8	1165	c.1120G>A	c.(1120-1122)Gac>Aac	p.D374N	TBX4_ENST00000393853.4_Missense_Mutation_p.D375N|TBX4_ENST00000589449.1_3'UTR	NM_018488.2	NP_060958.2	P57082	TBX4_HUMAN	T-box 4	374					angiogenesis (GO:0001525)|embryonic limb morphogenesis (GO:0030326)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CCCTCCCTACGACCAGCAAAT	0.597																																					p.D374N		Atlas-SNP	.											TBX4,colon,carcinoma,0,1	TBX4	69	.	0			c.G1120A						PASS	.						66.0	58.0	61.0					17																	59560359		2203	4300	6503	SO:0001583	missense	9496	exon8			CCCTACGACCAGC	AF188703	CCDS11629.1	17q21-q22	2005-10-11				ENSG00000121075		"""T-boxes"""	11603	protein-coding gene	gene with protein product		601719				10945475	Standard	NM_018488		Approved		uc002izi.3	P57082		ENST00000240335.1:c.1120G>A	chr17.hg19:g.59560359G>A	ENSP00000240335:p.Asp374Asn	91.0	0.0	.		91.0	6.0	.	NM_018488	A5PKU7|B2RMT1|B7ZLV3	Missense_Mutation	SNP	ENST00000240335.1	hg19	CCDS11629.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.231687	0.79688	.	.	ENSG00000121075	ENST00000393853;ENST00000240335	D;D	0.85702	-2.02;-2.02	5.51	5.51	0.81932	.	0.377447	0.27455	N	0.019283	T	0.78805	0.4341	L	0.40543	1.245	0.58432	D	0.999997	P;P	0.47545	0.896;0.897	B;B	0.35971	0.215;0.212	T	0.79127	-0.1931	9	.	.	.	.	18.4116	0.90554	0.0:0.0:1.0:0.0	.	375;374	A5PKU7;P57082	.;TBX4_HUMAN	N	375;374	ENSP00000377435:D375N;ENSP00000240335:D374N	.	D	+	1	0	TBX4	56915141	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.574000	0.82434	2.590000	0.87494	0.655000	0.94253	GAC	.	.	.	none		0.597	TBX4-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449649.1	NM_018488	
CELSR1	9620	hgsc.bcm.edu	37	22	46785299	46785299	+	Missense_Mutation	SNP	A	A	G			TCGA-AL-3467-01A-01D-1252-08	TCGA-AL-3467-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a74ffd4b-fa89-49ae-aa1d-3052a5440fa2	2ab402fb-392f-4441-a979-713a602c9cd3	g.chr22:46785299A>G	ENST00000262738.3	-	18	6442	c.6443T>C	c.(6442-6444)cTc>cCc	p.L2148P		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2148					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ATTGCCAAAGAGCGTGCCCGT	0.667																																					p.L2148P		Atlas-SNP	.											.	CELSR1	242	.	0			c.T6443C						PASS	.						48.0	41.0	43.0					22																	46785299		2203	4300	6503	SO:0001583	missense	9620	exon18			CCAAAGAGCGTGC	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.6443T>C	chr22.hg19:g.46785299A>G	ENSP00000262738:p.Leu2148Pro	93.0	0.0	.		107.0	6.0	.	NM_014246	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	hg19	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	A	8.527	0.870135	0.17322	.	.	ENSG00000075275	ENST00000262738	T	0.14516	2.5	4.99	3.96	0.45880	Domain of unknown function DUF3497 (1);	0.304522	0.25386	N	0.031042	T	0.20373	0.0490	M	0.68952	2.095	0.38634	D	0.951442	B;B	0.29136	0.234;0.097	B;B	0.37451	0.25;0.16	T	0.03728	-1.1009	10	0.66056	D	0.02	.	10.2827	0.43550	0.9208:0.0:0.0792:0.0	.	469;2148	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	P	2148	ENSP00000262738:L2148P	ENSP00000262738:L2148P	L	-	2	0	CELSR1	45163963	1.000000	0.71417	0.594000	0.28785	0.090000	0.18270	2.630000	0.46494	0.763000	0.33175	0.533000	0.62120	CTC	.	.	.	none		0.667	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246	
MT-CO1	4512	hgsc.bcm.edu	37	M	6929	6929	+	Silent	SNP	A	A	G			TCGA-AL-3467-01A-01D-1252-08	TCGA-AL-3467-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a74ffd4b-fa89-49ae-aa1d-3052a5440fa2	2ab402fb-392f-4441-a979-713a602c9cd3	g.chrM:6929A>G	ENST00000361624.2	+	1	1026	c.1026A>G	c.(1024-1026)ctA>ctG	p.L342L	MT-TS1_ENST00000387416.2_RNA|MT-TC_ENST00000387405.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-CO3_ENST00000362079.2_5'Flank|MT-TM_ENST00000387377.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-TW_ENST00000387382.1_RNA|MT-CO2_ENST00000361739.1_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	342					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						CTCTGAGCCCTAGGATTCATC	0.473																																					p.L342L		Atlas-SNP	.											.	.	.	.	0			c.A1026G						PASS	.																																			SO:0001819	synonymous_variant	5742	exon1			AGCCCTAGGATTC			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		ENST00000361624.2:c.1026A>G	chrM.hg19:g.6929A>G		0.0	0.0	.		9.0	9.0	.	ENST00000361624	Q34770	Silent	SNP	ENST00000361624.2	hg19																																																																																				.	.	.	none		0.473	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024028	
ZMYND15	84225	hgsc.bcm.edu	37	17	4645266	4645266	+	Frame_Shift_Del	DEL	G	G	-	rs200238712		TCGA-AL-3467-01A-01D-1252-08	TCGA-AL-3467-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a74ffd4b-fa89-49ae-aa1d-3052a5440fa2	2ab402fb-392f-4441-a979-713a602c9cd3	g.chr17:4645266delG	ENST00000433935.1	+	4	941	c.884delG	c.(883-885)cggfs	p.R295fs	CXCL16_ENST00000293778.6_5'Flank|CXCL16_ENST00000574412.1_5'Flank|ZMYND15_ENST00000592813.1_Frame_Shift_Del_p.R295fs|ZMYND15_ENST00000269289.6_Frame_Shift_Del_p.R295fs|ZMYND15_ENST00000573751.2_Frame_Shift_Del_p.R295fs	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	295					negative regulation of transcription, DNA-templated (GO:0045892)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						ACCCCAATGCGGACATGGGGT	0.577																																					p.R295fs		Atlas-INDEL	.											.	ZMYND15	87	.	0			c.883delC						PASS	.						79.0	84.0	82.0					17																	4645266		2203	4300	6503	SO:0001589	frameshift_variant	84225	exon4			.	AL136893	CCDS11053.1, CCDS45584.1, CCDS58506.1	17p13.3	2008-05-02			ENSG00000141497	ENSG00000141497		"""Zinc fingers, MYND-type"""	20997	protein-coding gene	gene with protein product		614312				11230166	Standard	NM_001136046		Approved	DKFZp434N127	uc002fyu.3	Q9H091	OTTHUMG00000090760	ENST00000433935.1:c.884delG	chr17.hg19:g.4645266delG	ENSP00000391742:p.Arg295fs	222.0	0.0	0		224.0	83.0	0.370536	NM_001136046	B4DXY5|I3L296	Frame_Shift_Del	DEL	ENST00000433935.1	hg19	CCDS45584.1																																																																																			.	.	.	none		0.577	ZMYND15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439580.1	NM_032265	
