#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_NormalRefReads_WU	i_NormalVAF_WU	i_NormalVarReads_WU	i_ORegAnno_bin	i_RNARefReads_WU	i_RNAVAF_WU	i_RNAVarReads_WU	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Start_position_hg18	i_TumorRefReads_WU	i_TumorVAF_WU	i_TumorVarReads_WU	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
DMD	1756	genome.wustl.edu	37	X	31854905	31854905	+	Missense_Mutation	SNP	G	G	A	rs201262489		TCGA-AB-2810-03B-01W-0728-08	TCGA-AB-2810-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	0a3cc109-86cf-44a8-abf6-2c244c26656c	933b44ef-cb71-487d-8354-af1e55554415	g.chrX:31854905G>A	ENST00000357033.4	-	49	7336	c.7130C>T	c.(7129-7131)cCg>cTg	p.P2377L	DMD_ENST00000378707.3_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.P2373L|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000359836.1_5'UTR	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2377					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTCCACATCCGGTTGTTTAGC	0.373													G|||	1	0.000264901	0.0	0.0	3775	,	,		12820	0.0		0.0	False		,,,				2504	0.001					dbGAP											0			X						G	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,,,,,	0,3833		0,0,1631,571	181.0	154.0	163.0		7106,7130,6761,7118,6761,3107,3098,,,,,	4.8	1.0	X		163	1,6727		0,1,2427,1872	yes	missense,missense,missense,missense,missense,missense,missense,utr-5,utr-5,utr-5,utr-5,utr-5	DMD	NM_000109.3,NM_004006.2,NM_004007.2,NM_004009.3,NM_004010.3,NM_004011.3,NM_004012.3,NM_004013.2,NM_004020.3,NM_004021.2,NM_004022.2,NM_004023.2	98,98,98,98,98,98,98,,,,,	0,1,4058,2443	AA,AG,GG,G		0.0149,0.0,0.0095	benign,benign,benign,benign,benign,benign,benign,,,,,	2369/3678,2377/3686,2254/3563,2373/3682,2254/3563,1036/2345,1033/2342,,,,,	31854905	1,10560	2202	4300	6502	31764826	SO:0001583	missense	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.7130C>T	X.37:g.31854905G>A	ENSP00000354923:p.Pro2377Leu	Somatic	112	7.38	9		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	31764826	209	42.93	161	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	HMMPfam_ZZ,HMMSmart_SM00291,PatternScan_ZF_ZZ_1,HMMPfam_WW,HMMSmart_SM00456,PatternScan_WW_DOMAIN_1,superfamily_WW domain,PatternScan_ACTININ_1,PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_SM00033,HMMPfam_Spectrin,superfamily_Prefoldin,superfamily_t-snare proteins,HMMPfam_efhand_1,HMMPfam_efhand_2,superfamily_Calponin-homology domain CH-domain,HMMSmart_SM00150,superfamily_Spectrin repeat,superfamily_EF-hand	p.P2377L	ENST00000357033.4	37	c.7130	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	G	12.15	1.851814	0.32699	0.0	1.49E-4	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T;T	0.37235	1.21;1.21;1.21	5.63	4.77	0.60923	.	0.227351	0.21302	U	0.076791	T	0.21590	0.0520	L	0.27053	0.805	0.80722	D	1	B;B;B;P;P	0.38745	0.006;0.003;0.003;0.645;0.645	B;B;B;B;B	0.26770	0.004;0.002;0.002;0.073;0.049	T	0.02991	-1.1085	10	0.33940	T	0.23	.	12.0544	0.53527	0.0818:0.0:0.9182:0.0	.	2369;2377;2373;1036;1033	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	L	2369;1036;1033;73;2373;2377;2377;2254	ENSP00000350765:P73L;ENSP00000367948:P2373L;ENSP00000354923:P2377L	ENSP00000354923:P2377L	P	-	2	0	DMD	31764826	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.012000	0.57131	1.138000	0.42230	0.415000	0.27848	CCG	-	superfamily_Spectrin repeat		0.373	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	protein_coding	OTTHUMT00000056182.2	G	NM_004006		31764826	-1	no_errors	NM_004006.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
GPR88	54112	genome.wustl.edu	37	1	101004927	101004927	+	Silent	SNP	C	C	A			TCGA-AB-2810-03B-01W-0728-08	TCGA-AB-2810-11B-01W-0728-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	0a3cc109-86cf-44a8-abf6-2c244c26656c	933b44ef-cb71-487d-8354-af1e55554415	g.chr1:101004927C>A	ENST00000315033.4	+	2	844	c.405C>A	c.(403-405)gcC>gcA	p.A135A		NM_022049.2	NP_071332.2	Q9GZN0	GPR88_HUMAN	G protein-coupled receptor 88	135					G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuronal action potential (GO:0019228)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			large_intestine(2)|skin(1)	3		all_epithelial(167;1.19e-05)|all_lung(203;0.00159)|Lung NSC(277;0.00171)		Epithelial(280;0.0372)|all cancers(265;0.0558)|COAD - Colon adenocarcinoma(174;0.141)|Colorectal(144;0.156)|Lung(183;0.189)		GCCTCGTGGCCCTGAACCGCT	0.726																																						dbGAP											0			1											16.0	21.0	19.0					1																	101004927		2121	4261	6382	100777515	SO:0001819	synonymous_variant	0			AB042411	CCDS772.1	1p21.3	2012-08-21	2006-02-15		ENSG00000181656	ENSG00000181656		"""GPCR / Class A : Orphans"""	4539	protein-coding gene	gene with protein product		607468	"""G-protein coupled receptor 88"", ""G protein coupled receptor 88"""				Standard	NM_022049		Approved		uc001dth.3	Q9GZN0	OTTHUMG00000010981	ENST00000315033.4:c.405C>A	1.37:g.101004927C>A		Somatic	15	6.25	1		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	100777515	18	52.50	21	Q29S24|Q6VN48	Silent	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321	p.A135	ENST00000315033.4	37	c.405	CCDS772.1	1																																																																																			-	HMMPfam_7tm_1,superfamily_SSF81321		0.726	GPR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR88	protein_coding	OTTHUMT00000030212.1	C	NM_022049		100777515	+1	no_errors	NM_022049.2	genbank	human	validated	54_36p	silent	SNP	0.994	A
DCAF6	55827	genome.wustl.edu	37	1	167960544	167960544	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2810-03B-01W-0728-08	TCGA-AB-2810-11B-01W-0728-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	0a3cc109-86cf-44a8-abf6-2c244c26656c	933b44ef-cb71-487d-8354-af1e55554415	g.chr1:167960544T>C	ENST00000312263.6	+	6	859	c.655T>C	c.(655-657)Tat>Cat	p.Y219H	DCAF6_ENST00000367843.3_Missense_Mutation_p.Y219H|DCAF6_ENST00000367840.3_Missense_Mutation_p.Y219H|DCAF6_ENST00000432587.2_Missense_Mutation_p.Y188H|DCAF6_ENST00000470919.1_3'UTR	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	219					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						AGTACGAATATATGATCGGCG	0.393																																						dbGAP											0			1											116.0	102.0	107.0					1																	167960544		2203	4300	6503	166227168	SO:0001583	missense	0			AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.655T>C	1.37:g.167960544T>C	ENSP00000311949:p.Tyr219His	Somatic	68	20.00	17		8	55.56	10	WXS	Illumina HiSeq	Phase_IV	166227168	122	48.33	116	A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Missense_Mutation	SNP	HMMSmart_IQ,HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40	p.Y219H	ENST00000312263.6	37	c.655	CCDS30933.1	1	.	.	.	.	.	.	.	.	.	.	T	32	5.176583	0.94846	.	.	ENSG00000143164	ENST00000367843;ENST00000432587;ENST00000312263;ENST00000367840	T;T;T;T	0.61274	0.12;0.12;0.12;0.12	5.84	5.84	0.93424	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.118698	0.64402	D	0.000015	T	0.64103	0.2568	L	0.52573	1.65	0.80722	D	1	D;D;D;B	0.89917	1.0;0.983;1.0;0.299	D;P;D;B	0.97110	0.999;0.877;1.0;0.086	T	0.63184	-0.6694	10	0.37606	T	0.19	.	16.2106	0.82151	0.0:0.0:0.0:1.0	.	188;219;219;219	B4DNB8;Q58WW2-3;Q58WW2;Q58WW2-2	.;.;DCAF6_HUMAN;.	H	219;188;219;219	ENSP00000356817:Y219H;ENSP00000396238:Y188H;ENSP00000311949:Y219H;ENSP00000356814:Y219H	ENSP00000311949:Y219H	Y	+	1	0	DCAF6	166227168	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.555000	0.82223	2.238000	0.73509	0.397000	0.26171	TAT	-	HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40		0.393	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	IQWD1	protein_coding	OTTHUMT00000083661.2	T	NM_018442		166227168	+1	no_errors	NM_018442.1	genbank	human	validated	54_36p	missense	SNP	1.000	C
CELSR3	1951	genome.wustl.edu	37	3	48699110	48699110	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2810-03B-01W-0728-08	TCGA-AB-2810-11B-01W-0728-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	0a3cc109-86cf-44a8-abf6-2c244c26656c	933b44ef-cb71-487d-8354-af1e55554415	g.chr3:48699110T>C	ENST00000164024.4	-	1	1238	c.958A>G	c.(958-960)Aac>Gac	p.N320D	RP11-148G20.1_ENST00000421275.1_RNA|CELSR3_ENST00000544264.1_Missense_Mutation_p.N320D	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	320					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGGTGGCGGTTTGCGGCGCGA	0.697																																						dbGAP											0			3											44.0	49.0	48.0					3																	48699110		2183	4258	6441	48674114	SO:0001583	missense	0			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.958A>G	3.37:g.48699110T>C	ENSP00000164024:p.Asn320Asp	Somatic	78	7.14	6		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	48674114	30	53.12	34	O75092	Missense_Mutation	SNP	PatternScan_ASX_HYDROXYL,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,HMMSmart_SM00282,HMMPfam_HRM,HMMSmart_SM00008,HMMSmart_SM00179,HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_Cadherin-like,PatternScan_G_PROTEIN_RECEP_F2_2,superfamily_EGF/Laminin	p.N320D	ENST00000164024.4	37	c.958	CCDS2775.1	3	.	.	.	.	.	.	.	.	.	.	T	25.6	4.654928	0.88056	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.71341	-0.56;-0.56	5.73	5.73	0.89815	Cadherin-like (1);	.	.	.	.	T	0.73466	0.3590	N	0.19112	0.55	0.54753	D	0.999984	D;D	0.76494	0.997;0.999	D;D	0.75020	0.985;0.94	T	0.74722	-0.3569	9	0.40728	T	0.16	.	15.0051	0.71504	0.0:0.0:0.0:1.0	.	320;390	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	D	320	ENSP00000164024:N320D;ENSP00000445694:N320D	ENSP00000164024:N320D	N	-	1	0	CELSR3	48674114	1.000000	0.71417	0.996000	0.52242	0.984000	0.73092	3.260000	0.51523	2.198000	0.70561	0.533000	0.62120	AAC	-	NULL		0.697	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR3	protein_coding	OTTHUMT00000257523.1	T	NM_001407		48674114	-1	no_errors	NM_001407.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
CADPS	8618	genome.wustl.edu	37	3	62518627	62518627	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2810-03B-01W-0728-08	TCGA-AB-2810-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	0a3cc109-86cf-44a8-abf6-2c244c26656c	933b44ef-cb71-487d-8354-af1e55554415	g.chr3:62518627C>T	ENST00000383710.4	-	13	2559	c.2210G>A	c.(2209-2211)cGg>cAg	p.R737Q	CADPS_ENST00000283269.9_Missense_Mutation_p.R737Q|CADPS_ENST00000357948.3_Missense_Mutation_p.R720Q	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	737					catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		ATTTTCTGCCCGTTCAAGCAA	0.537																																						dbGAP											0			3											143.0	124.0	130.0					3																	62518627		2203	4300	6503	62493667	SO:0001583	missense	0			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.2210G>A	3.37:g.62518627C>T	ENSP00000373215:p.Arg737Gln	Somatic	238	4.80	12		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	62493667	135	44.40	111	A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	HMMPfam_C2,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_DUF1041,superfamily_PH domain-like	p.R737Q	ENST00000383710.4	37	c.2210	CCDS46858.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.620505|5.620505	0.96660|0.96660	.|.	.|.	ENSG00000163618|ENSG00000163618	ENST00000468271;ENST00000478434|ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269	.|T;T;T	.|0.31510	.|1.49;1.49;1.49	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.54854|0.54854	0.1884|0.1884	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	.|D;P;D;D	.|0.76494	.|0.99;0.953;0.999;0.995	.|P;B;D;P	.|0.72625	.|0.812;0.363;0.978;0.856	T|T	0.53380|0.53380	-0.8447|-0.8447	5|10	.|0.72032	.|D	.|0.01	.|.	19.9894|19.9894	0.97361|0.97361	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|720;737;737;737	.|Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4	.|.;.;CAPS1_HUMAN;.	R|Q	82;168|737;737;720;737	.|ENSP00000373215:R737Q;ENSP00000350632:R720Q;ENSP00000283269:R737Q	.|ENSP00000283269:R737Q	G|R	-|-	1|2	0|0	CADPS|CADPS	62493667|62493667	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.818000|7.818000	0.86416|0.86416	2.728000|2.728000	0.93425|0.93425	0.557000|0.557000	0.71058|0.71058	GGG|CGG	-	NULL		0.537	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	CADPS	protein_coding	OTTHUMT00000351951.5	C	NM_003716, NM_183393, NM_183394		62493667	-1	no_errors	NM_003716.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
CMYA5	202333	genome.wustl.edu	37	5	79027652	79027652	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2810-03B-01W-0728-08	TCGA-AB-2810-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	0a3cc109-86cf-44a8-abf6-2c244c26656c	933b44ef-cb71-487d-8354-af1e55554415	g.chr5:79027652G>A	ENST00000446378.2	+	2	3095	c.3064G>A	c.(3064-3066)Gag>Aag	p.E1022K		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1022					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAATGAACTTGAGCCTGATTC	0.433																																						dbGAP											0			5											60.0	56.0	57.0					5																	79027652		1902	4125	6027	79063408	SO:0001583	missense	0			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.3064G>A	5.37:g.79027652G>A	ENSP00000394770:p.Glu1022Lys	Somatic	188	6.93	14		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	79063408	203	44.83	169	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	HMMPfam_SPRY,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like	p.E1022K	ENST00000446378.2	37	c.3064	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	G	10.24	1.295417	0.23564	.	.	ENSG00000164309	ENST00000446378	T	0.51574	0.7	5.88	5.88	0.94601	.	0.117788	0.38492	N	0.001661	T	0.59046	0.2165	L	0.56769	1.78	0.20074	N	0.999934	D	0.67145	0.996	P	0.61070	0.883	T	0.53472	-0.8434	10	0.22109	T	0.4	.	13.7851	0.63105	0.0:0.1976:0.8024:0.0	.	1022	Q8N3K9	CMYA5_HUMAN	K	1022	ENSP00000394770:E1022K	ENSP00000394770:E1022K	E	+	1	0	CMYA5	79063408	0.372000	0.25064	0.815000	0.32552	0.034000	0.12701	1.075000	0.30716	2.791000	0.96007	0.563000	0.77884	GAG	-	NULL		0.433	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	protein_coding	OTTHUMT00000369497.1	G	NM_153610		79063408	+1	no_errors	NM_153610.3	genbank	human	validated	54_36p	missense	SNP	0.262	A
FCHSD1	89848	genome.wustl.edu	37	5	141029103	141029103	+	Splice_Site	SNP	C	C	T			TCGA-AB-2810-03B-01W-0728-08	TCGA-AB-2810-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	0a3cc109-86cf-44a8-abf6-2c244c26656c	933b44ef-cb71-487d-8354-af1e55554415	g.chr5:141029103C>T	ENST00000435817.2	-	5	284	c.234G>A	c.(232-234)agG>agA	p.R78R	FCHSD1_ENST00000522126.1_Intron|FCHSD1_ENST00000522783.1_Intron|FCHSD1_ENST00000519800.1_Intron|FCHSD1_ENST00000523856.1_5'Flank	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	78									FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTCCTGCCCCTCCCCAGAG	0.642																																						dbGAP											0			5											33.0	39.0	37.0					5																	141029103		2156	4250	6406	141009287	SO:0001630	splice_region_variant	0			AK027281	CCDS47295.1	5q31.3	2008-02-05			ENSG00000197948	ENSG00000197948			25463	protein-coding gene	gene with protein product						11214971, 15067381	Standard	NM_033449		Approved	FLJ00007	uc003llk.3	Q86WN1	OTTHUMG00000163762	ENST00000435817.2:c.234-1G>A	5.37:g.141029103C>T		Somatic	195	9.72	21		0	0.00	0	WXS	Illumina HiSeq	Phase_IV	141009287	51	39.53	34	Q6UX75|Q86Y77|Q9NXX8	Silent	SNP	HMMPfam_FCH,HMMSmart_SM00055,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_SH3_2	p.R78	ENST00000435817.2	37	c.234	CCDS47295.1	5																																																																																			-	HMMPfam_FCH,HMMSmart_SM00055		0.642	FCHSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCHSD1	protein_coding	OTTHUMT00000375282.2	C	NM_033449	Silent	141009287	-1	no_errors	NM_033449.1	genbank	human	provisional	54_36p	silent	SNP	0.999	T
Unknown	0	genome.wustl.edu	37	6	121975844	121975844	+	IGR	SNP	C	C	T			TCGA-AB-2810-03B-01W-0728-08	TCGA-AB-2810-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	0a3cc109-86cf-44a8-abf6-2c244c26656c	933b44ef-cb71-487d-8354-af1e55554415	g.chr6:121975844C>T								RNU2-8P (74177 upstream) : RNU1-18P (556949 downstream)																							TAAGTTATTTCCTAGGATTTT	0.418																																						dbGAP											0			6																																								122017543	SO:0001628	intergenic_variant	0																															6.37:g.121975844C>T		Somatic	215	9.62	23		35	0.00	0	WXS	Illumina HiSeq	Phase_IV	122017543	189	45.24	157		RNA	SNP	-	NULL		37	NULL		6																																																																																			-	-	0	0.418					LOC442255			C			122017543	+1	pseudogene	XR_016618.2	genbank	human	model	54_36p	rna	SNP	0.047	T
SMOC2	64094	genome.wustl.edu	37	6	169008890	169008890	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2810-03B-01W-0728-08	TCGA-AB-2810-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	0a3cc109-86cf-44a8-abf6-2c244c26656c	933b44ef-cb71-487d-8354-af1e55554415	g.chr6:169008890G>A	ENST00000356284.2	+	9	1098	c.878G>A	c.(877-879)cGg>cAg	p.R293Q	SMOC2_ENST00000354536.5_Missense_Mutation_p.R304Q	NM_001166412.1	NP_001159884.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	293					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		GCCAAAGCCCGGGACCTGTAC	0.612																																						dbGAP											0			6											29.0	28.0	29.0					6																	169008890		2202	4299	6501	168750815	SO:0001583	missense	0			AB014730	CCDS5307.1, CCDS55076.1	6q27	2013-01-10			ENSG00000112562	ENSG00000112562		"""EF-hand domain containing"""	20323	protein-coding gene	gene with protein product		607223				12031507	Standard	NM_022138		Approved	SMAP2	uc003qwr.2	Q9H3U7	OTTHUMG00000016050	ENST00000356284.2:c.878G>A	6.37:g.169008890G>A	ENSP00000348630:p.Arg293Gln	Somatic	70	11.39	9		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	168750815	28	50.88	29	B3KPS7|Q4G169|Q5TAT7|Q5TAT8|Q86VV9|Q96SF3|Q9H1L3|Q9H1L4|Q9H3U0|Q9H4F7|Q9HCV2	Missense_Mutation	SNP	HMMPfam_Thyroglobulin_1,HMMSmart_TY,PatternScan_THYROGLOBULIN_1_1,superfamily_Thyroglobulin_1,HMMSmart_EFh,HMMPfam_Kazal_1,HMMSmart_KAZAL,PatternScan_EF_HAND_1,HMMPfam_SPARC_Ca_bdg,superfamily_SSF47473	p.R304Q	ENST00000356284.2	37	c.911	CCDS55076.1	6	.	.	.	.	.	.	.	.	.	.	G	11.77	1.737126	0.30774	.	.	ENSG00000112562	ENST00000356284;ENST00000354536;ENST00000366793	T;T	0.35421	1.32;1.31	5.15	3.06	0.35304	EF-hand-like domain (1);	0.265027	0.34223	N	0.004158	T	0.08537	0.0212	L	0.29908	0.895	0.39552	D	0.96899	B;B	0.28128	0.054;0.201	B;B	0.27170	0.03;0.077	T	0.09574	-1.0668	10	0.14252	T	0.57	-11.4368	4.5021	0.11869	0.3681:0.0:0.6319:0.0	.	293;304	Q9H3U7;Q9H3U7-2	SMOC2_HUMAN;.	Q	293;304;293	ENSP00000348630:R293Q;ENSP00000346537:R304Q	ENSP00000346537:R304Q	R	+	2	0	SMOC2	168750815	0.999000	0.42202	0.712000	0.30502	0.295000	0.27426	3.570000	0.53834	1.135000	0.42183	0.655000	0.94253	CGG	-	NULL		0.612	SMOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMOC2	protein_coding	OTTHUMT00000043201.1	G			168750815	+1	no_errors	NM_022138.1	genbank	human	provisional	54_36p	missense	SNP	0.973	A
UNC5B	219699	genome.wustl.edu	37	10	73051218	73051218	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2810-03B-01W-0728-08	TCGA-AB-2810-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	0a3cc109-86cf-44a8-abf6-2c244c26656c	933b44ef-cb71-487d-8354-af1e55554415	g.chr10:73051218C>T	ENST00000335350.6	+	10	1740	c.1324C>T	c.(1324-1326)Cct>Tct	p.P442S	UNC5B_ENST00000373192.4_Missense_Mutation_p.P431S	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	442					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)				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						CCCCTCTGTGCCTCCTGACCT	0.617																																						dbGAP											0			10											70.0	68.0	68.0					10																	73051218		2203	4300	6503	72721224	SO:0001583	missense	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.1324C>T	10.37:g.73051218C>T	ENSP00000334329:p.Pro442Ser	Somatic	171	7.57	14		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	72721224	48	39.02	32	Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	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.P442S	ENST00000335350.6	37	c.1324	CCDS7309.1	10	.	.	.	.	.	.	.	.	.	.	C	17.33	3.361509	0.61403	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.49139	0.85;0.79	4.48	4.48	0.54585	.	0.257277	0.40302	N	0.001132	T	0.50292	0.1607	L	0.55990	1.75	0.58432	D	0.999997	P;P	0.47910	0.902;0.842	P;B	0.47430	0.547;0.345	T	0.44967	-0.9293	10	0.18710	T	0.47	-8.7683	17.527	0.87803	0.0:1.0:0.0:0.0	.	431;442	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	S	442;431	ENSP00000334329:P442S;ENSP00000362288:P431S	ENSP00000334329:P442S	P	+	1	0	UNC5B	72721224	1.000000	0.71417	0.986000	0.45419	0.717000	0.41224	5.898000	0.69838	2.194000	0.70268	0.655000	0.94253	CCT	-	NULL		0.617	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC5B	protein_coding	OTTHUMT00000048541.1	C	NM_170744		72721224	+1	no_errors	NM_170744.3	genbank	human	validated	54_36p	missense	SNP	1.000	T
IDH2	3418	genome.wustl.edu	37	15	90631934	90631934	+	Missense_Mutation	SNP	C	C	T	rs121913502		TCGA-AB-2810-03B-01W-0728-08	TCGA-AB-2810-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	0a3cc109-86cf-44a8-abf6-2c244c26656c	933b44ef-cb71-487d-8354-af1e55554415	g.chr15:90631934C>T	ENST00000330062.3	-	4	532	c.419G>A	c.(418-420)cGg>cAg	p.R140Q	IDH2_ENST00000539790.1_Missense_Mutation_p.R10Q|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Missense_Mutation_p.R88Q	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	140	Substrate binding. {ECO:0000250}.		R -> G (in D2HGA2). {ECO:0000269|PubMed:20847235}.|R -> Q (in D2HGA2). {ECO:0000269|PubMed:20847235}.		2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.R140Q(292)|p.R140L(8)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			CAGGATGTTCCGGATAGTTCC	0.537			M		GBM																																	dbGAP		Dom	yes		15	15q26.1	3418	"""socitrate dehydrogenase 2 (NADP+), mitochondrial """		M	300	Substitution - Missense(300)	haematopoietic_and_lymphoid_tissue(300)	15											103.0	103.0	103.0					15																	90631934		2200	4298	6498	88432938	SO:0001583	missense	0				CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.419G>A	15.37:g.90631934C>T	ENSP00000331897:p.Arg140Gln	Somatic	186	9.66	20		153	51.27	162	WXS	Illumina HiSeq	Phase_IV	88432938	64	42.98	49	B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like	p.R140Q	ENST00000330062.3	37	c.419	CCDS10359.1	15	.	.	.	.	.	.	.	.	.	.	C	18.35	3.604397	0.66445	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	D;D;D	0.87179	-2.22;-2.22;-2.22	5.67	4.75	0.60458	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.95449	0.8522	H	0.96833	3.89	0.48185	D	0.999601	D	0.89917	1.0	D	0.87578	0.998	D	0.96254	0.9185	10	0.87932	D	0	.	12.4459	0.55651	0.0:0.9189:0.0:0.0811	.	140	P48735	IDHP_HUMAN	Q	140;10;88	ENSP00000331897:R140Q;ENSP00000438457:R10Q;ENSP00000446147:R88Q	ENSP00000331897:R140Q	R	-	2	0	IDH2	88432938	1.000000	0.71417	1.000000	0.80357	0.051000	0.14879	7.797000	0.85911	1.397000	0.46682	-0.258000	0.10820	CGG	-	HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like		0.537	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDH2	protein_coding	OTTHUMT00000313426.1	C			88432938	-1	no_errors	NM_002168.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
TSHZ3	57616	genome.wustl.edu	37	19	31769978	31769978	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2810-03B-01W-0728-08	TCGA-AB-2810-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	0a3cc109-86cf-44a8-abf6-2c244c26656c	933b44ef-cb71-487d-8354-af1e55554415	g.chr19:31769978C>T	ENST00000240587.4	-	2	1048	c.721G>A	c.(721-723)Gac>Aac	p.D241N		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	241					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGGTTGTCGTCGCGGTAATGC	0.587																																						dbGAP											0			19											237.0	211.0	220.0					19																	31769978		2203	4300	6503	36461818	SO:0001583	missense	0			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.721G>A	19.37:g.31769978C>T	ENSP00000240587:p.Asp241Asn	Somatic	1001	11.14	126		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	36461818	164	46.79	146	Q9H0G6|Q9P254	Missense_Mutation	SNP	HMMPfam_Homeobox,HMMSmart_HOX,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Homeodomain_like,HMMSmart_ZnF_C2H2,PatternScan_HOMEOBOX_1	p.D241N	ENST00000240587.4	37	c.721	CCDS12421.2	19	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644786	0.87859	.	.	ENSG00000121297	ENST00000240587	T	0.19250	2.16	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.49253	0.1546	M	0.73962	2.25	0.80722	D	1	D	0.65815	0.995	D	0.79784	0.993	T	0.45542	-0.9254	10	0.49607	T	0.09	-31.7616	19.2151	0.93774	0.0:1.0:0.0:0.0	.	241	Q63HK5	TSH3_HUMAN	N	241	ENSP00000240587:D241N	ENSP00000240587:D241N	D	-	1	0	TSHZ3	36461818	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	7.484000	0.81180	2.509000	0.84616	0.655000	0.94253	GAC	-	NULL		0.587	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ3	protein_coding	OTTHUMT00000316743.2	C	NM_020856		36461818	-1	no_errors	NM_020856.2	genbank	human	validated	54_36p	missense	SNP	1.000	T
MEGF8	1954	genome.wustl.edu	37	19	42838272	42838272	+	Silent	SNP	G	G	A			TCGA-AB-2810-03B-01W-0728-08	TCGA-AB-2810-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	0a3cc109-86cf-44a8-abf6-2c244c26656c	933b44ef-cb71-487d-8354-af1e55554415	g.chr19:42838272G>A	ENST00000251268.6	+	3	465	c.465G>A	c.(463-465)ccG>ccA	p.P155P	MEGF8_ENST00000334370.4_Silent_p.P155P	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	155	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GCCAGCCACCGGGTGTGTGTG	0.667																																						dbGAP											0			19											22.0	26.0	25.0					19																	42838272		1996	4146	6142	47530112	SO:0001819	synonymous_variant	0			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.465G>A	19.37:g.42838272G>A		Somatic	72	12.20	10		4	33.33	2	WXS	Illumina HiSeq	Phase_IV	47530112	48	47.31	44	A8KAY0|O75097	Silent	SNP	PatternScan_ASX_HYDROXYL,HMMPfam_CUB,HMMSmart_CUB,superfamily_CUB,HMMSmart_EGF_CA,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,PatternScan_EGF_LAM_1,HMMPfam_PSI,HMMSmart_PSI,HMMSmart_EGF,HMMPfam_Kelch_1,superfamily_Gal_oxid_central,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,HMMPfam_EGF_2,PatternScan_EGF_CA,PatternScan_C_TYPE_LECTIN_1,superfamily_SSF57196	p.P155	ENST00000251268.6	37	c.465		19																																																																																			-	HMMSmart_EGF		0.667	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	MEGF8	protein_coding	OTTHUMT00000463854.1	G	NM_001410		47530112	+1	no_errors	NM_001410.2	genbank	human	validated	54_36p	silent	SNP	0.000	A
SYNGR4	23546	genome.wustl.edu	37	19	48878946	48878946	+	Silent	SNP	C	C	T			TCGA-AB-2810-03B-01W-0728-08	TCGA-AB-2810-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	0a3cc109-86cf-44a8-abf6-2c244c26656c	933b44ef-cb71-487d-8354-af1e55554415	g.chr19:48878946C>T	ENST00000344846.2	+	4	658	c.408C>T	c.(406-408)ttC>ttT	p.F136F	SYNGR4_ENST00000595322.1_Intron|SYNGR4_ENST00000601610.1_Silent_p.F87F	NM_012451.3	NP_036583.2	O95473	SNG4_HUMAN	synaptogyrin 4	136	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.					integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		CCAAAGAGTTCCTCCTGGGGA	0.592																																						dbGAP											0			19											95.0	87.0	90.0					19																	48878946		2203	4300	6503	53570758	SO:0001819	synonymous_variant	0			AJ011733	CCDS12717.1	19q13.3	2008-07-04				ENSG00000105467			11502	protein-coding gene	gene with protein product		608373					Standard	NM_012451		Approved		uc002piz.3	O95473		ENST00000344846.2:c.408C>T	19.37:g.48878946C>T		Somatic	591	9.47	62		0	100.00	1	WXS	Illumina HiSeq	Phase_IV	53570758	49	45.05	41	Q3KP58	Silent	SNP	HMMPfam_MARVEL	p.F136	ENST00000344846.2	37	c.408	CCDS12717.1	19																																																																																			-	HMMPfam_MARVEL		0.592	SYNGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNGR4	protein_coding	OTTHUMT00000465704.1	C			53570758	+1	no_errors	NM_012451.2	genbank	human	reviewed	54_36p	silent	SNP	0.848	T
CLDN14	23562	genome.wustl.edu	37	21	37833609	37833609	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2810-03B-01W-0728-08	TCGA-AB-2810-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	0a3cc109-86cf-44a8-abf6-2c244c26656c	933b44ef-cb71-487d-8354-af1e55554415	g.chr21:37833609C>T	ENST00000399137.1	-	3	1251	c.385G>A	c.(385-387)Ggc>Agc	p.G129S	AP000695.6_ENST00000429588.1_RNA|AP000695.4_ENST00000428667.1_RNA|CLDN14_ENST00000399136.1_Missense_Mutation_p.G129S|CLDN14_ENST00000399135.1_Missense_Mutation_p.G129S|AP000695.4_ENST00000454980.1_RNA|CLDN14_ENST00000399139.1_Missense_Mutation_p.G129S|CLDN14_ENST00000342108.2_Missense_Mutation_p.G129S	NM_144492.2	NP_652763.1	O95500	CLD14_HUMAN	claudin 14	129					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|protein complex assembly (GO:0006461)|tight junction assembly (GO:0070830)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|lung(5)|skin(1)	7						CACAGGAGGCCGGCCAGGATG	0.642																																						dbGAP											0			21											63.0	67.0	65.0					21																	37833609		2203	4300	6503	36755479	SO:0001583	missense	0			AJ132445	CCDS13645.1	21q22.3	2008-07-31			ENSG00000159261	ENSG00000159261		"""Claudins"""	2035	protein-coding gene	gene with protein product		605608		DFNB29		11163249	Standard	NM_144492		Approved		uc002yvk.2	O95500	OTTHUMG00000086638	ENST00000399137.1:c.385G>A	21.37:g.37833609C>T	ENSP00000382090:p.Gly129Ser	Somatic	148	6.33	10		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	36755479	53	26.39	19		Missense_Mutation	SNP	HMMPfam_PMP22_Claudin,PatternScan_CLAUDIN	p.G129S	ENST00000399137.1	37	c.385	CCDS13645.1	21	.	.	.	.	.	.	.	.	.	.	C	34	5.368293	0.95900	.	.	ENSG00000159261	ENST00000399139;ENST00000399137;ENST00000399135;ENST00000399136;ENST00000342108	D;D;D;D;D	0.89746	-2.56;-2.56;-2.56;-2.56;-2.56	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.94440	0.8211	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94523	0.7729	10	0.62326	D	0.03	.	19.2271	0.93821	0.0:1.0:0.0:0.0	.	129	O95500	CLD14_HUMAN	S	129	ENSP00000382092:G129S;ENSP00000382090:G129S;ENSP00000382087:G129S;ENSP00000382088:G129S;ENSP00000339292:G129S	ENSP00000339292:G129S	G	-	1	0	CLDN14	36755479	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.705000	0.84606	2.526000	0.85167	0.462000	0.41574	GGC	-	HMMPfam_PMP22_Claudin		0.642	CLDN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN14	protein_coding	OTTHUMT00000194697.1	C	NM_144492		36755479	-1	no_errors	NM_012130.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
NPM1	4869	genome.wustl.edu	37	5	170837543	170837544	+	Frame_Shift_Ins	INS	-	-	TCTG	rs17850940		TCGA-AB-2810-03B-01W-0728-08	TCGA-AB-2810-11B-01W-0728-08	-	-	-	TCTG	-	-	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	0a3cc109-86cf-44a8-abf6-2c244c26656c	933b44ef-cb71-487d-8354-af1e55554415	g.chr5:170837543_170837544insTCTG	ENST00000296930.5	+	11	1160_1161	c.859_860insTCTG	c.(859-861)ctcfs	p.-287fs	NPM1_ENST00000351986.6_Frame_Shift_Ins_p.-258fs|NPM1_ENST00000517671.1_Frame_Shift_Ins_p.-287fs	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)						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(7)|p.W288fs*>9(5)|p.L287fs*11(2)|p.L287F(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)			TATTCAAGATCTCTGGCAGTGG	0.317			"""T, F """	"""ALK, RARA, MLF1"""	"""NHL, APL, AML"""																																	dbGAP		Dom	yes		5	5q35	4869	"""nucleophosmin (nucleolar phosphoprotein B23, numatrin)"""		L	15	Insertion - Frameshift(14)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(15)	5																																								170770149	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	ENST00000296930.5:c.860_863dupTCTG	5.37:g.170837544_170837547dupTCTG	ENSP00000296930:p.Leu287fs	Somatic	NA	NA	NA		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	170770148	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.859_860	CCDS4376.1	5																																																																																			-	NULL		0.317	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPM1	protein_coding	OTTHUMT00000252858.2	-	NM_002520		170770149	+1	no_errors	NM_002520.1	genbank	human	validated	54_36p	frame_shift_ins	INS	1.000:1.000	TCTG
