#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_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_EVS_AA	i_EVS_All	i_EVS_EA	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_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	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_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ABCA13	154664	genome.wustl.edu	37	7	48450174	48450174	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1X8-01A-11D-A14K-09	TCGA-D8-A1X8-10A-01W-A16I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	78c3c787-5731-4c38-8d7a-e5b503b11c36	66580041-7e6c-4467-9116-d96049f2ab59	g.chr7:48450174G>A	ENST00000435803.1	+	40	12152	c.12128G>A	c.(12127-12129)cGc>cAc	p.R4043H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4043	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.R3988H(1)|p.R4043H(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTGAGTGACCGCGTGGCCGTC	0.622																																						dbGAP											2	Substitution - Missense(2)	large_intestine(2)											110.0	109.0	109.0					7																	48450174		2080	4217	6297	-	-	-	SO:0001583	missense	0			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.12128G>A	7.37:g.48450174G>A	ENSP00000411096:p.Arg4043His	Somatic		WXS	Illumina GAIIx	Phase_IV	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.R4043H	ENST00000435803.1	37	c.12128	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	G	7.063	0.566700	0.13560	.	.	ENSG00000179869	ENST00000435803	D	0.99158	-5.5	5.33	0.322	0.15888	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.632526	0.14061	N	0.344053	D	0.97651	0.9230	M	0.78344	2.41	0.36509	D	0.869479	B;B	0.14012	0.009;0.005	B;B	0.14023	0.01;0.002	D	0.94777	0.7950	10	0.27785	T	0.31	.	10.4874	0.44731	0.4169:0.0:0.5831:0.0	.	1745;4043	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	H	4043	ENSP00000411096:R4043H	ENSP00000411096:R4043H	R	+	2	0	ABCA13	48420720	0.991000	0.36638	0.000000	0.03702	0.008000	0.06430	2.291000	0.43540	-0.153000	0.11137	-0.150000	0.13652	CGC	ABCA13	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000179869		0.622	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	92	0.00	0	G	NM_152701		48450174	48450174	+1	no_errors	ENST00000435803	ensembl	human	known	69_37n	missense	20	28.57	8	SNP	0.469	A
C2orf78	388960	genome.wustl.edu	37	2	74043504	74043504	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1X8-01A-11D-A14K-09	TCGA-D8-A1X8-10A-01W-A16I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	78c3c787-5731-4c38-8d7a-e5b503b11c36	66580041-7e6c-4467-9116-d96049f2ab59	g.chr2:74043504G>T	ENST00000409561.1	+	3	2275	c.2154G>T	c.(2152-2154)ttG>ttT	p.L718F		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	718										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						AGGTCAAGTTGATACCTTTGC	0.517																																						dbGAP											0													179.0	182.0	181.0					2																	74043504		2056	4198	6254	-	-	-	SO:0001583	missense	0			AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.2154G>T	2.37:g.74043504G>T	ENSP00000387124:p.Leu718Phe	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.L718F	ENST00000409561.1	37	c.2154	CCDS46338.1	2	.	.	.	.	.	.	.	.	.	.	G	16.15	3.042981	0.55003	.	.	ENSG00000187833	ENST00000409561;ENST00000342345	T	0.61627	0.09	5.23	3.44	0.39384	.	0.000000	0.39475	N	0.001350	T	0.72358	0.3450	M	0.79475	2.455	0.30775	N	0.742609	D	0.89917	1.0	D	0.91635	0.999	T	0.72265	-0.4344	10	0.66056	D	0.02	-9.6015	8.1933	0.31381	0.1851:0.0:0.8149:0.0	.	718	A6NCI8	CB078_HUMAN	F	718;688	ENSP00000387124:L718F	ENSP00000340692:L688F	L	+	3	2	C2orf78	73897012	0.990000	0.36364	0.510000	0.27712	0.745000	0.42441	1.471000	0.35365	0.723000	0.32274	0.563000	0.77884	TTG	C2orf78	-	NULL	ENSG00000187833		0.517	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	C2orf78	HGNC	protein_coding	OTTHUMT00000328083.1	77	0.00	0	G	NM_001080474		74043504	74043504	+1	no_errors	ENST00000409561	ensembl	human	novel	69_37n	missense	23	43.90	18	SNP	0.779	T
CAST	831	genome.wustl.edu	37	5	96100942	96100942	+	Silent	SNP	C	C	T			TCGA-D8-A1X8-01A-11D-A14K-09	TCGA-D8-A1X8-10A-01W-A16I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	78c3c787-5731-4c38-8d7a-e5b503b11c36	66580041-7e6c-4467-9116-d96049f2ab59	g.chr5:96100942C>T	ENST00000341926.3	+	24	1863	c.1701C>T	c.(1699-1701)ctC>ctT	p.L567L	CAST_ENST00000515663.1_Silent_p.L290L|CAST_ENST00000309190.5_Silent_p.L545L|CAST_ENST00000510756.1_Silent_p.L628L|CAST_ENST00000338252.3_Silent_p.L554L|ERAP1_ENST00000296754.3_Intron|CAST_ENST00000511049.1_Silent_p.L552L|CAST_ENST00000508830.1_Silent_p.L650L|CAST_ENST00000325674.7_Silent_p.L615L|CAST_ENST00000511782.1_Silent_p.L553L|CAST_ENST00000508608.1_Silent_p.L613L|CAST_ENST00000504465.1_Silent_p.L495L|CAST_ENST00000395812.2_Silent_p.L609L|CAST_ENST00000508579.1_Silent_p.L282L|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000359176.4_Silent_p.L631L|CAST_ENST00000509903.1_Silent_p.L532L|CAST_ENST00000395813.1_Silent_p.L650L			P20810	ICAL_HUMAN	calpastatin	567					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		ACAAAGACCTCGATGATGCCT	0.393																																						dbGAP											0													140.0	141.0	141.0					5																	96100942		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF327443	CCDS4082.1, CCDS54882.1, CCDS54883.1, CCDS75279.1	5q15	2012-09-20			ENSG00000153113	ENSG00000153113			1515	protein-coding gene	gene with protein product		114090				8340353, 14685690, 15820218	Standard	NM_173060		Approved		uc003klx.3	P20810	OTTHUMG00000128413	ENST00000341926.3:c.1701C>T	5.37:g.96100942C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z468|G5E946|G5E9D3|O95360|Q05DE8|Q7Z4K0|Q96D08|Q9H1Z5	Nonsense_Mutation	SNP	pfam_Prot_inh_calpain	p.R309*	ENST00000341926.3	37	c.925		5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	0.062|0.062	-1.222669|-1.222669	0.01530|0.01530	.|.	.|.	ENSG00000153113|ENSG00000153113	ENST00000510500|ENST00000437034	.|.	.|.	.|.	5.8|5.8	-11.6|-11.6	0.00059|0.00059	.|.	.|.	.|.	.|.	.|.	.|T	.|0.43077	.|0.1231	.|.	.|.	.|.	0.42311|0.42311	D|D	0.99221|0.99221	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.58120	.|-0.7692	.|4	.|.	.|.	.|.	-3.6719|-3.6719	6.6259|6.6259	0.22828|0.22828	0.0629:0.1769:0.3919:0.3683|0.0629:0.1769:0.3919:0.3683	.|.	.|.	.|.	.|.	X|L	324|319	.|.	.|.	R|S	+|+	1|2	2|0	CAST|CAST	96126698|96126698	0.000000|0.000000	0.05858|0.05858	0.006000|0.006000	0.13384|0.13384	0.194000|0.194000	0.23727|0.23727	-4.830000|-4.830000	0.00180|0.00180	-3.884000|-3.884000	0.00095|0.00095	-1.798000|-1.798000	0.00622|0.00622	CGA|TCG	CAST	-	pfam_Prot_inh_calpain	ENSG00000153113		0.393	CAST-004	KNOWN	basic	protein_coding	CAST	HGNC	protein_coding	OTTHUMT00000250199.2	99	0.00	0	C	NM_173062		96100942	96100942	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000484552	ensembl	human	known	69_37n	nonsense	37	35.09	20	SNP	0.006	T
EPDR1	54749	genome.wustl.edu	37	7	37960286	37960286	+	5'UTR	DEL	A	A	-			TCGA-D8-A1X8-01A-11D-A14K-09	TCGA-D8-A1X8-10A-01W-A16I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	78c3c787-5731-4c38-8d7a-e5b503b11c36	66580041-7e6c-4467-9116-d96049f2ab59	g.chr7:37960286delA	ENST00000199448.4	+	0	124				EPDR1_ENST00000425345.1_5'Flank|EPDR1_ENST00000476620.1_Intron|EPDR1_ENST00000423717.1_5'UTR|EPDR1_ENST00000559325.1_Frame_Shift_Del_p.A36fs	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1						cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						AGGCAGTGGCAGCAGGCAGTG	0.637																																						dbGAP											0													19.0	24.0	22.0					7																	37960286		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_variant	0			BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"""ependymin related protein 1 (zebrafish)"""			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000199448.4:c.-256A>-	7.37:g.37960286delA		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4C0|C9JYS3|Q06BL0|Q99M77	Frame_Shift_Del	DEL	pfam_Ependymin,smart_Ependymin,prints_Ependymin	p.A36fs	ENST00000199448.4	37	c.105	CCDS5454.2	7																																																																																			EPDR1	-	NULL	ENSG00000086289		0.637	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	EPDR1	HGNC	protein_coding	OTTHUMT00000220037.3	27	0.00	0	A	NM_017549		37960286	37960286	+1	no_errors	ENST00000559325	ensembl	human	known	69_37n	frame_shift_del	18	17.39	4	DEL	0.042	-
FAM47C	442444	genome.wustl.edu	37	X	37027408	37027408	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1X8-01A-11D-A14K-09	TCGA-D8-A1X8-10A-01W-A16I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	78c3c787-5731-4c38-8d7a-e5b503b11c36	66580041-7e6c-4467-9116-d96049f2ab59	g.chrX:37027408G>C	ENST00000358047.3	+	1	977	c.925G>C	c.(925-927)Gag>Cag	p.E309Q		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	309										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCTCTGCCTGGAGCCTCCCAA	0.592																																						dbGAP											0													87.0	75.0	79.0					X																	37027408		2202	4300	6502	-	-	-	SO:0001583	missense	0			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.925G>C	X.37:g.37027408G>C	ENSP00000367913:p.Glu309Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZU46	Missense_Mutation	SNP	NULL	p.E309Q	ENST00000358047.3	37	c.925	CCDS35227.1	X	.	.	.	.	.	.	.	.	.	.	g	13.77	2.335902	0.41398	.	.	ENSG00000198173	ENST00000358047	T	0.16457	2.34	0.932	0.932	0.19466	.	.	.	.	.	T	0.32526	0.0832	M	0.69823	2.125	0.23050	N	0.998377	D	0.54772	0.968	D	0.70487	0.969	T	0.22347	-1.0219	9	0.16896	T	0.51	.	7.6172	0.28165	1.0E-4:0.0:0.9999:0.0	.	309	Q5HY64	FA47C_HUMAN	Q	309	ENSP00000367913:E309Q	ENSP00000367913:E309Q	E	+	1	0	FAM47C	36937329	0.034000	0.19679	0.013000	0.15412	0.013000	0.08279	1.232000	0.32636	0.171000	0.19730	0.173000	0.16961	GAG	FAM47C	-	NULL	ENSG00000198173		0.592	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47C	HGNC	protein_coding	OTTHUMT00000060508.1	120	0.00	0	G	NM_001013736		37027408	37027408	+1	no_errors	ENST00000358047	ensembl	human	known	69_37n	missense	28	30.00	12	SNP	0.940	C
GOLGA6L2	283685	genome.wustl.edu	37	15	23685826	23685828	+	In_Frame_Del	DEL	TCT	TCT	-	rs372813065		TCGA-D8-A1X8-01A-11D-A14K-09	TCGA-D8-A1X8-10A-01W-A16I-09	TCT	TCT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	78c3c787-5731-4c38-8d7a-e5b503b11c36	66580041-7e6c-4467-9116-d96049f2ab59	g.chr15:23685826_23685828delTCT	ENST00000567107.1	-	8	1846_1848	c.1794_1796delAGA	c.(1792-1797)gaagat>gat	p.E598del	GOLGA6L2_ENST00000312015.5_Intron|GOLGA6L2_ENST00000345070.5_Intron			Q8N9W4	GG6L2_HUMAN	golgin A6 family-like 2	0										breast(1)|endometrium(7)	8						tgctgccacatcttcttctgctc	0.581																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AK093463		15q11.2	2012-10-05	2010-02-12		ENSG00000174450	ENSG00000174450			26695	protein-coding gene	gene with protein product	"""cancer/testis antigen 105"""		"""golgi autoantigen, golgin subfamily a, 6-like 2"""				Standard	XM_002343322		Approved	CT105, FLJ36144	uc021sfy.1	Q8N9W4	OTTHUMG00000176417	ENST00000567107.1:c.1794_1796delAGA	15.37:g.23685832_23685834delTCT	ENSP00000454407:p.Glu598del	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L301	In_Frame_Del	DEL	NULL	p.E598in_frame_del	ENST00000567107.1	37	c.1796_1794		15																																																																																			GOLGA6L2	-	NULL	ENSG00000174450		0.581	GOLGA6L2-002	PUTATIVE	basic|appris_candidate_longest	protein_coding	GOLGA6L2	HGNC	protein_coding	OTTHUMT00000431937.1	23	0.00	0	TCT	NM_182561		23685826	23685828	-1	no_errors	ENST00000567107	ensembl	human	putative	69_37n	in_frame_del	18	21.74	5	DEL	0.000:0.000:0.000	-
GXYLT1	283464	genome.wustl.edu	37	12	42499714	42499714	+	Missense_Mutation	SNP	T	T	C	rs78536827		TCGA-D8-A1X8-01A-11D-A14K-09	TCGA-D8-A1X8-10A-01W-A16I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	78c3c787-5731-4c38-8d7a-e5b503b11c36	66580041-7e6c-4467-9116-d96049f2ab59	g.chr12:42499714T>C	ENST00000398675.3	-	5	1002	c.770A>G	c.(769-771)aAt>aGt	p.N257S	GXYLT1_ENST00000280876.6_Missense_Mutation_p.N226S	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	257					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|O-glycan processing (GO:0016266)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						AGCAAAGCGATTATACCATCC	0.378																																						dbGAP											0													94.0	86.0	89.0					12																	42499714		1855	4107	5962	-	-	-	SO:0001583	missense	0			BC015597	CCDS41771.1, CCDS41772.1	12q12	2013-10-11	2009-11-17	2009-11-17	ENSG00000151233	ENSG00000151233		"""Glycosyltransferase family 8 domain containing"""	27482	protein-coding gene	gene with protein product		613321	"""glycosyltransferase 8 domain containing 3"""	GLT8D3		19940119	Standard	NM_001099650		Approved	FLJ43151	uc001rms.4	Q4G148	OTTHUMG00000169379	ENST00000398675.3:c.770A>G	12.37:g.42499714T>C	ENSP00000381666:p.Asn257Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWJ2|Q8IXV1|Q96BH4	Missense_Mutation	SNP	pfam_Glyco_trans_8	p.N257S	ENST00000398675.3	37	c.770	CCDS41772.1	12	.	.	.	.	.	.	.	.	.	.	T	12.37	1.919046	0.33908	.	.	ENSG00000151233	ENST00000398675;ENST00000280876	T;T	0.23552	1.9;1.9	6.07	4.93	0.64822	.	0.040890	0.85682	D	0.000000	T	0.15219	0.0367	N	0.12853	0.265	0.54753	D	0.999981	P;P	0.37370	0.537;0.592	B;B	0.40329	0.219;0.326	T	0.05178	-1.0901	10	0.08179	T	0.78	-31.6092	12.3753	0.55277	0.0:0.0653:0.0:0.9347	.	226;257	Q4G148-2;Q4G148	.;GXLT1_HUMAN	S	257;226	ENSP00000381666:N257S;ENSP00000280876:N226S	ENSP00000280876:N226S	N	-	2	0	GXYLT1	40785981	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.408000	0.52651	1.120000	0.41904	-0.254000	0.11334	AAT	GXYLT1	-	pfam_Glyco_trans_8	ENSG00000151233		0.378	GXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GXYLT1	HGNC	protein_coding	OTTHUMT00000403778.1	104	0.00	0	T	XM_290597		42499714	42499714	-1	no_errors	ENST00000398675	ensembl	human	known	69_37n	missense	38	22.45	11	SNP	1.000	C
IGHA1	3493	genome.wustl.edu	37	14	106173790	106173790	+	RNA	SNP	A	A	G	rs17349690	byFrequency	TCGA-D8-A1X8-01A-11D-A14K-09	TCGA-D8-A1X8-10A-01W-A16I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	78c3c787-5731-4c38-8d7a-e5b503b11c36	66580041-7e6c-4467-9116-d96049f2ab59	g.chr14:106173790A>G	ENST00000390547.2	-	0	776				AL928768.3_ENST00000497872.2_lincRNA			P01876	IGHA1_HUMAN	immunoglobulin heavy constant alpha 1						antibacterial humoral response (GO:0019731)|glomerular filtration (GO:0003094)|immune response (GO:0006955)|positive regulation of respiratory burst (GO:0060267)|protein-chromophore linkage (GO:0018298)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|monomeric IgA immunoglobulin complex (GO:0071748)|secretory dimeric IgA immunoglobulin complex (GO:0071752)|secretory IgA immunoglobulin complex (GO:0071751)	antigen binding (GO:0003823)										GAACCAGCACATCCTTGGGGC	0.697																																						dbGAP											0													34.0	48.0	44.0					14																	106173790		2137	4250	6387	-	-	-			0			J00220		14q32.33	2012-10-02			ENSG00000211895	ENSG00000211895		"""Immunoglobulins / IGH locus"""	5478	other	immunoglobulin gene		146900					Standard	NG_001019		Approved			P01876	OTTHUMG00000152494		14.37:g.106173790A>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like	p.D259	ENST00000390547.2	37	c.777		14																																																																																			IGHA1	-	pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like	ENSG00000211895		0.697	IGHA1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IGHA1	HGNC	IG_C_gene	OTTHUMT00000326459.1	8	0.00	0	A	NG_001019		106173790	106173790	-1	no_start_codon	ENST00000390547	ensembl	human	known	69_37n	silent	28	37.78	17	SNP	0.000	G
MST1L	11223	genome.wustl.edu	37	1	17086940	17086941	+	RNA	DEL	AC	AC	-	rs28462251	byFrequency	TCGA-D8-A1X8-01A-11D-A14K-09	TCGA-D8-A1X8-10A-01W-A16I-09	AC	AC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	78c3c787-5731-4c38-8d7a-e5b503b11c36	66580041-7e6c-4467-9116-d96049f2ab59	g.chr1:17086940_17086941delAC	ENST00000455405.2	-	0	0							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.R128H(1)|p.R133H(1)									CATCAGGGTTACGGCAGAAGTT	0.629																																						dbGAP											2	Substitution - Missense(2)	endometrium(2)																																								-	-	-			0			U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17086940_17086941delAC		Somatic		WXS	Illumina GAIIx	Phase_IV	B7WPB1|Q13209	Frame_Shift_Del	DEL	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6	p.R128fs	ENST00000455405.2	37	c.384_383		1																																																																																			MST1P9	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle	ENSG00000186715		0.629	MST1L-002	KNOWN	basic	processed_transcript	MST1P9	HGNC	pseudogene	OTTHUMT00000400328.1	53	0.00	0	AC	NM_001271733		17086940	17086941	-1	no_errors	ENST00000334998	ensembl	human	known	69_37n	frame_shift_del	9	40.00	6	DEL	0.998:1.000	-
MTMR4	9110	genome.wustl.edu	37	17	56582889	56582889	+	Silent	SNP	G	G	T			TCGA-D8-A1X8-01A-11D-A14K-09	TCGA-D8-A1X8-10A-01W-A16I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	78c3c787-5731-4c38-8d7a-e5b503b11c36	66580041-7e6c-4467-9116-d96049f2ab59	g.chr17:56582889G>T	ENST00000323456.5	-	11	1171	c.1047C>A	c.(1045-1047)atC>atA	p.I349I	MTMR4_ENST00000579925.1_Silent_p.I349I	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	349	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGCTGTTCCGGATGGCATGGA	0.517																																						dbGAP											0													142.0	116.0	125.0					17																	56582889		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.1047C>A	17.37:g.56582889G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTZ6|Q8IV27|Q9Y4D5	Silent	SNP	pfam_Myotub-related,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Tyr/Dual-specificity_Pase	p.I349	ENST00000323456.5	37	c.1047	CCDS11608.1	17																																																																																			MTMR4	-	NULL	ENSG00000108389		0.517	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR4	HGNC	protein_coding	OTTHUMT00000444721.1	48	0.00	0	G	NM_004687		56582889	56582889	-1	no_errors	ENST00000323456	ensembl	human	known	69_37n	silent	33	10.81	4	SNP	1.000	T
NCOA6	23054	genome.wustl.edu	37	20	33328692	33328692	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1X8-01A-11D-A14K-09	TCGA-D8-A1X8-10A-01W-A16I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	78c3c787-5731-4c38-8d7a-e5b503b11c36	66580041-7e6c-4467-9116-d96049f2ab59	g.chr20:33328692T>C	ENST00000374796.2	-	12	7938	c.5368A>G	c.(5368-5370)Acc>Gcc	p.T1790A	NCOA6_ENST00000359003.2_Missense_Mutation_p.T1790A			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1790	EP300/CRSP3-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						ACCATTGTGGTTGACTGTGAA	0.502																																						dbGAP											0													83.0	80.0	81.0					20																	33328692		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.5368A>G	20.37:g.33328692T>C	ENSP00000363929:p.Thr1790Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	NULL	p.T1790A	ENST00000374796.2	37	c.5368	CCDS13241.1	20	.	.	.	.	.	.	.	.	.	.	T	6.515	0.463274	0.12402	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.21191	2.02;2.02	5.65	0.893	0.19236	.	0.488345	0.22091	N	0.064751	T	0.08714	0.0216	N	0.08118	0	0.25435	N	0.988146	B	0.02656	0.0	B	0.01281	0.0	T	0.35051	-0.9804	10	0.19590	T	0.45	-0.1418	8.1795	0.31302	0.0:0.4455:0.0:0.5545	.	1790	Q14686	NCOA6_HUMAN	A	1790	ENSP00000363929:T1790A;ENSP00000351894:T1790A	ENSP00000351894:T1790A	T	-	1	0	NCOA6	32792353	0.992000	0.36948	1.000000	0.80357	0.999000	0.98932	0.326000	0.19646	0.220000	0.20860	0.533000	0.62120	ACC	NCOA6	-	NULL	ENSG00000198646		0.502	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA6	HGNC	protein_coding	OTTHUMT00000078811.2	37	0.00	0	T	NM_014071		33328692	33328692	-1	no_errors	ENST00000359003	ensembl	human	known	69_37n	missense	31	27.91	12	SNP	0.948	C
NLRP3	114548	genome.wustl.edu	37	1	247582326	247582326	+	Missense_Mutation	SNP	C	C	T	rs200288250		TCGA-D8-A1X8-01A-11D-A14K-09	TCGA-D8-A1X8-10A-01W-A16I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	78c3c787-5731-4c38-8d7a-e5b503b11c36	66580041-7e6c-4467-9116-d96049f2ab59	g.chr1:247582326C>T	ENST00000336119.3	+	1	976	c.230C>T	c.(229-231)gCg>gTg	p.A77V	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.A77V|NLRP3_ENST00000391827.2_Missense_Mutation_p.A77V|NLRP3_ENST00000366496.2_Missense_Mutation_p.A77V|NLRP3_ENST00000366497.2_Missense_Mutation_p.A77V|NLRP3_ENST00000348069.2_Missense_Mutation_p.A77V	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	77	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ATCTTCGCTGCGATCAACAGG	0.498																																						dbGAP											0													71.0	64.0	67.0					1																	247582326		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.230C>T	1.37:g.247582326C>T	ENSP00000337383:p.Ala77Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.A77V	ENST00000336119.3	37	c.230	CCDS1632.1	1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345619	0.41498	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.58506	0.33;0.33;0.33;0.33;0.33;0.33	4.49	2.41	0.29592	Pyrin (2);DEATH-like (2);	0.129671	0.35870	N	0.002927	T	0.38374	0.1038	L	0.45352	1.415	0.09310	N	1	P;B;P;P;B	0.50943	0.825;0.155;0.818;0.94;0.304	B;B;B;B;B	0.30782	0.06;0.009;0.12;0.051;0.024	T	0.40683	-0.9550	10	0.49607	T	0.09	.	8.9888	0.36010	0.4032:0.5968:0.0:0.0	.	77;77;77;77;77	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	V	77	ENSP00000375704:A77V;ENSP00000355453:A77V;ENSP00000337383:A77V;ENSP00000294752:A77V;ENSP00000355452:A77V;ENSP00000375703:A77V	ENSP00000337383:A77V	A	+	2	0	NLRP3	245648949	0.005000	0.15991	0.038000	0.18304	0.847000	0.48162	0.782000	0.26788	1.208000	0.43306	0.561000	0.74099	GCG	NLRP3	-	pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN	ENSG00000162711		0.498	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP3	HGNC	protein_coding	OTTHUMT00000097740.1	56	0.00	0	C	NM_004895		247582326	247582326	+1	no_errors	ENST00000336119	ensembl	human	known	69_37n	missense	28	15.15	5	SNP	0.003	T
PAFAH1B1	5048	genome.wustl.edu	37	17	2573487	2573487	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D8-A1X8-01A-11D-A14K-09	TCGA-D8-A1X8-10A-01W-A16I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	78c3c787-5731-4c38-8d7a-e5b503b11c36	66580041-7e6c-4467-9116-d96049f2ab59	g.chr17:2573487C>T	ENST00000397195.5	+	6	881	c.430C>T	c.(430-432)Cga>Tga	p.R144*	PAFAH1B1_ENST00000572915.2_Intron|PAFAH1B1_ENST00000451360.2_5'Flank	NM_000430.3	NP_000421.1			platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)											endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						AGATTTTGAACGAACTCTTAA	0.423																																						dbGAP											0			GRCh37	CM981425	PAFAH1B1	M							184.0	180.0	181.0					17																	2573487		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			L25107	CCDS32528.1	17p13.3	2014-04-04	2010-02-10		ENSG00000007168	ENSG00000007168		"""WD repeat domain containing"""	8574	protein-coding gene	gene with protein product	"""lissencephaly-1"""	601545	"""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)"", ""Miller-Dieker syndrome chromosome region"", ""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa"", ""platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)"""	MDCR, MDS		8355785, 9063735	Standard	NM_000430		Approved	LIS1, PAFAH	uc002fuw.4	P43034	OTTHUMG00000177574	ENST00000397195.5:c.430C>T	17.37:g.2573487C>T	ENSP00000380378:p.Arg144*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pirsf_Dynein_regulator,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R144*	ENST00000397195.5	37	c.430	CCDS32528.1	17	.	.	.	.	.	.	.	.	.	.	C	43	9.839996	0.99276	.	.	ENSG00000007168	ENST00000397195	.	.	.	5.89	4.91	0.64330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.5674	0.68188	0.2649:0.7351:0.0:0.0	.	.	.	.	X	144	.	ENSP00000380378:R144X	R	+	1	2	PAFAH1B1	2520237	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.221000	0.51215	1.467000	0.48044	0.655000	0.94253	CGA	PAFAH1B1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Dynein_regulator,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000007168		0.423	PAFAH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAFAH1B1	HGNC	protein_coding	OTTHUMT00000437797.2	51	0.00	0	C	NM_000430		2573487	2573487	+1	no_errors	ENST00000397195	ensembl	human	known	69_37n	nonsense	35	32.69	17	SNP	1.000	T
PDZD2	23037	genome.wustl.edu	37	5	32088636	32088636	+	Missense_Mutation	SNP	A	A	C			TCGA-D8-A1X8-01A-11D-A14K-09	TCGA-D8-A1X8-10A-01W-A16I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	78c3c787-5731-4c38-8d7a-e5b503b11c36	66580041-7e6c-4467-9116-d96049f2ab59	g.chr5:32088636A>C	ENST00000438447.1	+	20	5470	c.5082A>C	c.(5080-5082)gaA>gaC	p.E1694D	PDZD2_ENST00000282493.3_Missense_Mutation_p.E1694D			O15018	PDZD2_HUMAN	PDZ domain containing 2	1694					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CGTGTGCAGAAGAAACCACAG	0.522																																						dbGAP											0													88.0	82.0	84.0					5																	32088636		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.5082A>C	5.37:g.32088636A>C	ENSP00000402033:p.Glu1694Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BXD4	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E1694D	ENST00000438447.1	37	c.5082	CCDS34137.1	5	.	.	.	.	.	.	.	.	.	.	A	12.56	1.975058	0.34848	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.08370	3.1;3.1	5.46	-7.19	0.01500	.	0.369976	0.23025	N	0.052806	T	0.04497	0.0123	L	0.53249	1.67	0.09310	N	1	P	0.45044	0.849	B	0.36959	0.237	T	0.20207	-1.0282	10	0.28530	T	0.3	.	2.991	0.05983	0.1939:0.123:0.4418:0.2413	.	1694	O15018	PDZD2_HUMAN	D	1694;1495;1694	ENSP00000402033:E1694D;ENSP00000282493:E1694D	ENSP00000282493:E1694D	E	+	3	2	PDZD2	32124393	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.057000	0.11768	-0.880000	0.03997	-0.290000	0.09829	GAA	PDZD2	-	NULL	ENSG00000133401		0.522	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1	29	0.00	0	A			32088636	32088636	+1	no_errors	ENST00000282493	ensembl	human	known	69_37n	missense	22	38.89	14	SNP	0.000	C
PLK2	10769	genome.wustl.edu	37	5	57751415	57751415	+	Missense_Mutation	SNP	C	C	G	rs140637834		TCGA-D8-A1X8-01A-11D-A14K-09	TCGA-D8-A1X8-10A-01W-A16I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	78c3c787-5731-4c38-8d7a-e5b503b11c36	66580041-7e6c-4467-9116-d96049f2ab59	g.chr5:57751415C>G	ENST00000274289.3	-	11	1876	c.1576G>C	c.(1576-1578)Ggt>Cgt	p.G526R	PLK2_ENST00000502671.1_Intron	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	526	POLO box 1. {ECO:0000255|PROSITE- ProRule:PRU00154}.				G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		AAAAGGACACCGACGGTGTGG	0.438																																						dbGAP											0													78.0	74.0	75.0					5																	57751415		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"""serum-inducible kinase"""	607023	"""polo-like kinase 2 (Drosophila)"""				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.1576G>C	5.37:g.57751415C>G	ENSP00000274289:p.Gly526Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	O60679|Q96CV7|Q9UE61	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_cat_dom	p.G526R	ENST00000274289.3	37	c.1576	CCDS3974.1	5	.	.	.	.	.	.	.	.	.	.	C	21.8	4.200660	0.79015	.	.	ENSG00000145632	ENST00000274289	T	0.31510	1.49	5.76	5.76	0.90799	POLO box duplicated domain (2);	0.000000	0.85682	D	0.000000	T	0.66046	0.2750	M	0.90595	3.13	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72357	-0.4318	10	0.87932	D	0	-16.2198	19.9616	0.97254	0.0:1.0:0.0:0.0	.	526	Q9NYY3	PLK2_HUMAN	R	526	ENSP00000274289:G526R	ENSP00000274289:G526R	G	-	1	0	PLK2	57787172	1.000000	0.71417	0.197000	0.23402	0.980000	0.70556	7.487000	0.81328	2.724000	0.93272	0.561000	0.74099	GGT	PLK2	-	pfam_POLO_box_duplicated_dom,pfscan_POLO_box_duplicated_dom	ENSG00000145632		0.438	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLK2	HGNC	protein_coding	OTTHUMT00000214150.1	32	0.00	0	C	NM_006622		57751415	57751415	-1	no_errors	ENST00000274289	ensembl	human	known	69_37n	missense	16	20.00	4	SNP	1.000	G
PCDHGB4	8641	genome.wustl.edu	37	5	140769310	140769310	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1X8-01A-11D-A14K-09	TCGA-D8-A1X8-10A-01W-A16I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	78c3c787-5731-4c38-8d7a-e5b503b11c36	66580041-7e6c-4467-9116-d96049f2ab59	g.chr5:140769310G>A	ENST00000519479.1	+	1	1859	c.1859G>A	c.(1858-1860)cGc>cAc	p.R620H	PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	620	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGGGCTGCGCACGGGCGAA	0.687																																						dbGAP											0													31.0	36.0	34.0					5																	140769310		2123	4246	6369	-	-	-	SO:0001583	missense	0			AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1859G>A	5.37:g.140769310G>A	ENSP00000428288:p.Arg620His	Somatic		WXS	Illumina GAIIx	Phase_IV	O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R620H	ENST00000519479.1	37	c.1859	CCDS54928.1	5	.	.	.	.	.	.	.	.	.	.	.	12.01	1.809374	0.31961	.	.	ENSG00000253953	ENST00000519479	T	0.52526	0.66	5.05	5.05	0.67936	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.29389	0.0732	N	0.03881	-0.34	0.25605	N	0.98656	D;D	0.64830	0.972;0.994	P;P	0.54346	0.695;0.749	T	0.20306	-1.0279	9	0.02654	T	1	.	7.249	0.26138	0.2128:0.0:0.7872:0.0	.	620;620	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	H	620	ENSP00000428288:R620H	ENSP00000428288:R620H	R	+	2	0	PCDHGB4	140749494	0.917000	0.31117	1.000000	0.80357	0.945000	0.59286	1.824000	0.39072	2.503000	0.84419	0.563000	0.77884	CGC	PCDHGB4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253953		0.687	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB4	HGNC	protein_coding	OTTHUMT00000374745.1	24	0.00	0	G	NM_003736		140769310	140769310	+1	no_errors	ENST00000519479	ensembl	human	known	69_37n	missense	14	33.33	7	SNP	1.000	A
PTH2	113091	genome.wustl.edu	37	19	49926531	49926533	+	In_Frame_Del	DEL	CAG	CAG	-	rs200733272|rs371950649	byFrequency	TCGA-D8-A1X8-01A-11D-A14K-09	TCGA-D8-A1X8-10A-01W-A16I-09	CAG	CAG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	78c3c787-5731-4c38-8d7a-e5b503b11c36	66580041-7e6c-4467-9116-d96049f2ab59	g.chr19:49926531_49926533delCAG	ENST00000270631.1	-	1	165_167	c.64_66delCTG	c.(64-66)ctgdel	p.L22del	CTD-3148I10.1_ENST00000576655.1_5'Flank	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	22					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.L22V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		AGGGCACCACcagcagcagcagc	0.69																																						dbGAP											2	Substitution - Missense(2)	endometrium(2)																																								-	-	-	SO:0001651	inframe_deletion	0			AY037555	CCDS12763.1	19q13.33	2013-02-28				ENSG00000142538		"""Endogenous ligands"""	30828	protein-coding gene	gene with protein product	"""tuberoinfundibular 39 residues"""	608386				11861531	Standard	NM_178449		Approved	TIP39	uc002pnn.1	Q96A98		ENST00000270631.1:c.64_66delCTG	19.37:g.49926540_49926542delCAG	ENSP00000270631:p.Leu22del	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96DJ4	In_Frame_Del	DEL	NULL	p.L22in_frame_del	ENST00000270631.1	37	c.66_64	CCDS12763.1	19																																																																																			PTH2	-	NULL	ENSG00000142538		0.690	PTH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTH2	HGNC	protein_coding	OTTHUMT00000465366.1	53	0.00	0	CAG	NM_178449		49926531	49926533	-1	no_errors	ENST00000270631	ensembl	human	known	69_37n	in_frame_del	16	11.11	2	DEL	0.016:0.132:0.132	-
RNA5-8SP6	100873336	genome.wustl.edu	37	Y	10037842	10037842	+	RNA	SNP	A	A	G			TCGA-D8-A1X8-01A-11D-A14K-09	TCGA-D8-A1X8-10A-01W-A16I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	78c3c787-5731-4c38-8d7a-e5b503b11c36	66580041-7e6c-4467-9116-d96049f2ab59	g.chrY:10037842A>G	ENST00000515896.1	+	0	79									RNA, 5.8S ribosomal pseudogene 6																		GAATTGCAGGACACATTGATC	0.512																																						dbGAP											0																																										-	-	-			0					Yp11.2	2012-08-07	2012-08-07	2012-08-07	ENSG00000251705	ENSG00000251705			41960	pseudogene	RNA, pseudogene			"""RNA, 5.8S ribosomal 6"""	RN5-8S6			Standard	NG_033474		Approved						Y.37:g.10037842A>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000515896.1	37	NULL		Y																																																																																			RNA5-8SP6	-	-	ENSG00000251705		0.512	RNA5-8SP6-201	KNOWN	basic	rRNA	RNA5-8SP6	HGNC	rRNA		11	0.00	0	A			10037842	10037842	+1	no_errors	ENST00000515896	ensembl	human	known	69_37n	rna	15	34.78	8	SNP	1.000	G
RRP12	23223	genome.wustl.edu	37	10	99132555	99132555	+	Silent	SNP	C	C	T			TCGA-D8-A1X8-01A-11D-A14K-09	TCGA-D8-A1X8-10A-01W-A16I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	78c3c787-5731-4c38-8d7a-e5b503b11c36	66580041-7e6c-4467-9116-d96049f2ab59	g.chr10:99132555C>T	ENST00000370992.4	-	19	2298	c.2187G>A	c.(2185-2187)gtG>gtA	p.V729V	RRP12_ENST00000414986.1_Silent_p.V668V|RRP12_ENST00000536831.1_Silent_p.V447V|RRP12_ENST00000315563.6_Silent_p.V629V|RRP12_ENST00000479481.1_5'UTR	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	729						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GGAGACTGTTCACCAACTTGT	0.577																																						dbGAP											0													64.0	51.0	55.0					10																	99132555		2199	4289	6488	-	-	-	SO:0001819	synonymous_variant	0				CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.2187G>A	10.37:g.99132555C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Silent	SNP	pfam_Uncharacterised_NUC173,superfamily_ARM-type_fold	p.V729	ENST00000370992.4	37	c.2187	CCDS7457.1	10																																																																																			RRP12	-	superfamily_ARM-type_fold	ENSG00000052749		0.577	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RRP12	HGNC	protein_coding	OTTHUMT00000049699.4	31	0.00	0	C	NM_015179		99132555	99132555	-1	no_errors	ENST00000370992	ensembl	human	known	69_37n	silent	30	25.00	10	SNP	1.000	T
SEPT12	124404	genome.wustl.edu	37	16	4829725	4829725	+	Silent	SNP	G	G	A			TCGA-D8-A1X8-01A-11D-A14K-09	TCGA-D8-A1X8-10A-01W-A16I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	78c3c787-5731-4c38-8d7a-e5b503b11c36	66580041-7e6c-4467-9116-d96049f2ab59	g.chr16:4829725G>A	ENST00000268231.8	-	8	1052	c.789C>T	c.(787-789)gtC>gtT	p.V263V	SEPT12_ENST00000396693.5_Silent_p.V217V	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	263	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	cleavage furrow (GO:0032154)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|sperm annulus (GO:0097227)|spindle (GO:0005819)|stress fiber (GO:0001725)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						TCCGGCCCAGGACACACCTCC	0.592																																						dbGAP											0													119.0	106.0	110.0					16																	4829725		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AK058139	CCDS10522.1, CCDS53987.1	16p13.3	2013-01-21			ENSG00000140623	ENSG00000140623		"""Septins"""	26348	protein-coding gene	gene with protein product		611562				14611653, 15915442	Standard	NM_001154458		Approved	FLJ25410	uc002cxq.3	Q8IYM1	OTTHUMG00000129481	ENST00000268231.8:c.789C>T	16.37:g.4829725G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q0P6B0|Q1PBH0|Q96LL0	Silent	SNP	pfam_Cell_div_GTP-bd,pfam_AIG1,pirsf_Septin	p.V263	ENST00000268231.8	37	c.789	CCDS10522.1	16																																																																																			SEPT12	-	pfam_Cell_div_GTP-bd,pirsf_Septin	ENSG00000140623		0.592	SEPT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT12	HGNC	protein_coding	OTTHUMT00000251645.2	49	0.00	0	G	NM_144605		4829725	4829725	-1	no_errors	ENST00000268231	ensembl	human	known	69_37n	silent	23	30.30	10	SNP	0.995	A
SERPINE1	5054	genome.wustl.edu	37	7	100771746	100771746	+	Silent	SNP	G	G	T			TCGA-D8-A1X8-01A-11D-A14K-09	TCGA-D8-A1X8-10A-01W-A16I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	78c3c787-5731-4c38-8d7a-e5b503b11c36	66580041-7e6c-4467-9116-d96049f2ab59	g.chr7:100771746G>T	ENST00000223095.4	+	2	229	c.72G>T	c.(70-72)gtG>gtT	p.V24V	SERPINE1_ENST00000445463.2_Silent_p.V24V	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	24					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to lipopolysaccharide (GO:0071222)|chronological cell aging (GO:0001300)|defense response to Gram-negative bacterium (GO:0050829)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|gene expression (GO:0010467)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of vascular wound healing (GO:0061044)|negative regulation of wound healing (GO:0061045)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukotriene production involved in inflammatory response (GO:0035491)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of receptor activity (GO:0010469)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GGTCTGCTGTGCACCATCCCC	0.602																																						dbGAP											0													124.0	95.0	105.0					7																	100771746		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M16006	CCDS5711.1	7q22.1	2014-02-18	2005-08-18		ENSG00000106366	ENSG00000106366		"""Serine (or cysteine) peptidase inhibitors"""	8583	protein-coding gene	gene with protein product	"""plasminogen activator inhibitor, type I"""	173360	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1"""	PLANH1, PAI1		3097076, 2891140, 24172014	Standard	NM_000602		Approved	PAI	uc003uxt.4	P05121	OTTHUMG00000157107	ENST00000223095.4:c.72G>T	7.37:g.100771746G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z4S0|F8WD53	Silent	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.V24	ENST00000223095.4	37	c.72	CCDS5711.1	7																																																																																			SERPINE1	-	superfamily_Sepin_dom	ENSG00000106366		0.602	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINE1	HGNC	protein_coding	OTTHUMT00000347458.1	135	0.00	0	G	NM_000602		100771746	100771746	+1	no_errors	ENST00000223095	ensembl	human	known	69_37n	silent	33	29.79	14	SNP	0.000	T
SFI1	9814	genome.wustl.edu	37	22	31953042	31953043	+	Frame_Shift_Ins	INS	-	-	A			TCGA-D8-A1X8-01A-11D-A14K-09	TCGA-D8-A1X8-10A-01W-A16I-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	78c3c787-5731-4c38-8d7a-e5b503b11c36	66580041-7e6c-4467-9116-d96049f2ab59	g.chr22:31953042_31953043insA	ENST00000400288.2	+	7	764_765	c.659_660insA	c.(658-663)ttacggfs	p.R221fs	SFI1_ENST00000432498.1_Frame_Shift_Ins_p.R221fs|SFI1_ENST00000400289.1_Frame_Shift_Ins_p.R139fs|SFI1_ENST00000443011.1_Intron|SFI1_ENST00000414585.1_Intron|SFI1_ENST00000443326.1_Frame_Shift_Ins_p.R139fs|SFI1_ENST00000540643.1_Frame_Shift_Ins_p.R197fs	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	221					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CGGATTATCTTACGGTGAGTCT	0.455																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 139"""	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.660dupA	22.37:g.31953043_31953043dupA	ENSP00000383145:p.Arg221fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Frame_Shift_Ins	INS	superfamily_Cyclin-like	p.R221fs	ENST00000400288.2	37	c.659_660	CCDS43004.1	22																																																																																			SFI1	-	NULL	ENSG00000198089		0.455	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SFI1	HGNC	protein_coding	OTTHUMT00000337180.3	24	0.00	0	-	NM_014775		31953042	31953043	+1	no_errors	ENST00000400288	ensembl	human	known	69_37n	frame_shift_ins	16	15.79	3	INS	0.047:0.041	A
SGSH	6448	genome.wustl.edu	37	17	78185893	78185893	+	Missense_Mutation	SNP	C	C	A	rs536930894		TCGA-D8-A1X8-01A-11D-A14K-09	TCGA-D8-A1X8-10A-01W-A16I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	78c3c787-5731-4c38-8d7a-e5b503b11c36	66580041-7e6c-4467-9116-d96049f2ab59	g.chr17:78185893C>A	ENST00000326317.6	-	7	1012	c.926G>T	c.(925-927)aGc>aTc	p.S309I	SGSH_ENST00000534910.1_Missense_Mutation_p.S106I|SGSH_ENST00000572208.1_5'Flank|SGSH_ENST00000570923.1_3'UTR	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	309					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|metal ion binding (GO:0046872)|N-sulfoglucosamine sulfohydrolase activity (GO:0016250)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GTAGGCCTCGCTGACTTGGCC	0.612																																						dbGAP											0													74.0	60.0	65.0					17																	78185893		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC047318	CCDS11770.1	17q25.3	2011-11-08	2008-07-31			ENSG00000181523	3.10.1.1		10818	protein-coding gene	gene with protein product	"""sulfamidase"", ""mucopolysaccharidosis type IIIA"""	605270				7493035	Standard	NM_000199		Approved	HSS, MPS3A, SFMD	uc002jxz.4	P51688		ENST00000326317.6:c.926G>T	17.37:g.78185893C>A	ENSP00000314606:p.Ser309Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5E2	Missense_Mutation	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.S309I	ENST00000326317.6	37	c.926	CCDS11770.1	17	.	.	.	.	.	.	.	.	.	.	C	22.9	4.343866	0.82022	.	.	ENSG00000181523	ENST00000326317;ENST00000534910	D;D	0.98732	-5.1;-5.1	4.62	4.62	0.57501	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98682	0.9558	L	0.60067	1.865	0.80722	D	1	D	0.63046	0.992	D	0.71184	0.972	D	0.99026	1.0819	10	0.33141	T	0.24	-39.7558	17.0355	0.86474	0.0:1.0:0.0:0.0	.	309	P51688	SPHM_HUMAN	I	309;106	ENSP00000314606:S309I;ENSP00000437778:S106I	ENSP00000314606:S309I	S	-	2	0	SGSH	75800488	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	7.594000	0.82698	2.115000	0.64714	0.557000	0.71058	AGC	SGSH	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	ENSG00000181523		0.612	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGSH	HGNC	protein_coding	OTTHUMT00000437695.1	14	0.00	0	C	NM_000199		78185893	78185893	-1	no_errors	ENST00000326317	ensembl	human	known	69_37n	missense	23	28.12	9	SNP	1.000	A
SHANK1	50944	genome.wustl.edu	37	19	51165693	51165693	+	Silent	SNP	G	G	A			TCGA-D8-A1X8-01A-11D-A14K-09	TCGA-D8-A1X8-10A-01W-A16I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	78c3c787-5731-4c38-8d7a-e5b503b11c36	66580041-7e6c-4467-9116-d96049f2ab59	g.chr19:51165693G>A	ENST00000293441.1	-	23	6033	c.6015C>T	c.(6013-6015)ccC>ccT	p.P2005P	SHANK1_ENST00000391814.1_Silent_p.P2013P|SHANK1_ENST00000391813.1_Silent_p.P1392P|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000359082.3_Silent_p.P1996P|SHANK1_ENST00000483981.2_5'UTR	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	2005					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GCTCCGAGGCGGGCAGCAGCG	0.721																																						dbGAP											0													11.0	12.0	11.0					19																	51165693		2160	4238	6398	-	-	-	SO:0001819	synonymous_variant	0			AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.6015C>T	19.37:g.51165693G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MXP5|B7WNY6|Q9NYW9	Silent	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.P2013	ENST00000293441.1	37	c.6039	CCDS12799.1	19																																																																																			SHANK1	-	NULL	ENSG00000161681		0.721	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHANK1	HGNC	protein_coding	OTTHUMT00000268071.1	31	0.00	0	G	NM_016148		51165693	51165693	-1	no_errors	ENST00000391814	ensembl	human	known	69_37n	silent	13	27.78	5	SNP	0.965	A
SYNE2	23224	genome.wustl.edu	37	14	64635628	64635628	+	Missense_Mutation	SNP	A	A	T	rs565917973		TCGA-D8-A1X8-01A-11D-A14K-09	TCGA-D8-A1X8-10A-01W-A16I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	78c3c787-5731-4c38-8d7a-e5b503b11c36	66580041-7e6c-4467-9116-d96049f2ab59	g.chr14:64635628A>T	ENST00000344113.4	+	93	17151	c.16939A>T	c.(16939-16941)Att>Ttt	p.I5647F	SYNE2_ENST00000554584.1_Missense_Mutation_p.I5522F|SYNE2_ENST00000555002.1_Missense_Mutation_p.I2281F|SYNE2_ENST00000358025.3_Missense_Mutation_p.I5647F|SYNE2_ENST00000394768.2_Missense_Mutation_p.I2032F|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000357395.3_Missense_Mutation_p.I2032F	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5647					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAACCAGACAATTGCTGATTC	0.418																																						dbGAP											0													97.0	86.0	90.0					14																	64635628		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.16939A>T	14.37:g.64635628A>T	ENSP00000341781:p.Ile5647Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.I5647F	ENST00000344113.4	37	c.16939	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	A	25.3	4.626569	0.87560	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.57907	0.37;3.63;0.37;1.33;3.65;3.63	5.99	-2.0	0.07433	.	0.349077	0.24130	N	0.041278	T	0.64316	0.2587	M	0.71036	2.16	0.80722	D	1	D;P;P;D;D	0.65815	0.995;0.955;0.879;0.978;0.985	D;P;P;P;P	0.69142	0.962;0.824;0.572;0.786;0.809	T	0.62642	-0.6811	10	0.52906	T	0.07	.	10.7262	0.46070	0.564:0.0:0.436:0.0	.	2032;35;5522;5647;5647	Q8WXH0-7;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;SYNE2_HUMAN;.	F	5647;2032;5647;5522;5528;2281;2032	ENSP00000350719:I5647F;ENSP00000349969:I2032F;ENSP00000341781:I5647F;ENSP00000452570:I5522F;ENSP00000450831:I2281F;ENSP00000378249:I2032F	ENSP00000261678:I5528F	I	+	1	0	SYNE2	63705381	0.825000	0.29262	0.948000	0.38648	0.995000	0.86356	0.199000	0.17237	-0.601000	0.05783	0.482000	0.46254	ATT	SYNE2	-	smart_Spectrin/alpha-actinin	ENSG00000054654		0.418	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	51	0.00	0	A	NM_182914		64635628	64635628	+1	no_errors	ENST00000358025	ensembl	human	known	69_37n	missense	36	18.18	8	SNP	0.987	T
SYT5	6861	genome.wustl.edu	37	19	55687114	55687114	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1X8-01A-11D-A14K-09	TCGA-D8-A1X8-10A-01W-A16I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	78c3c787-5731-4c38-8d7a-e5b503b11c36	66580041-7e6c-4467-9116-d96049f2ab59	g.chr19:55687114G>A	ENST00000354308.3	-	5	872	c.503C>T	c.(502-504)aCg>aTg	p.T168M	SYT5_ENST00000592935.1_5'Flank|CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000590851.1_Missense_Mutation_p.T165M|SYT5_ENST00000537500.1_Missense_Mutation_p.T168M	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	168	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		AGGGTTCAGCGTCTGCCGATG	0.612																																						dbGAP											0													125.0	117.0	120.0					19																	55687114		2203	4300	6503	-	-	-	SO:0001583	missense	0			X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"""Synaptotagmins"""	11513	protein-coding gene	gene with protein product	"""synaptotagmin 5"""	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.503C>T	19.37:g.55687114G>A	ENSP00000346265:p.Thr168Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWJ8|B7Z300|Q86X72	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.T168M	ENST00000354308.3	37	c.503	CCDS12919.1	19	.	.	.	.	.	.	.	.	.	.	G	22.6	4.316939	0.81469	.	.	ENSG00000129990	ENST00000537500;ENST00000354308;ENST00000543844	T;T	0.12039	2.72;2.72	4.54	3.49	0.39957	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.052511	0.64402	D	0.000001	T	0.55970	0.1954	H	0.99104	4.43	0.53005	D	0.999968	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.991;0.999	T	0.76493	-0.2939	10	0.87932	D	0	.	14.2638	0.66102	0.0:0.1509:0.8491:0.0	.	165;168;168	B7Z300;Q4FD32;O00445	.;.;SYT5_HUMAN	M	168;168;165	ENSP00000442896:T168M;ENSP00000346265:T168M	ENSP00000346265:T168M	T	-	2	0	SYT5	60378926	1.000000	0.71417	0.921000	0.36526	0.842000	0.47809	6.449000	0.73473	1.224000	0.43551	0.555000	0.69702	ACG	SYT5	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_C2_dom	ENSG00000129990		0.612	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT5	HGNC	protein_coding	OTTHUMT00000452501.1	161	0.00	0	G	NM_003180		55687114	55687114	-1	no_errors	ENST00000354308	ensembl	human	known	69_37n	missense	21	30.00	9	SNP	0.991	A
THBS4	7060	genome.wustl.edu	37	5	79374937	79374937	+	Silent	SNP	C	C	T			TCGA-D8-A1X8-01A-11D-A14K-09	TCGA-D8-A1X8-10A-01W-A16I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	78c3c787-5731-4c38-8d7a-e5b503b11c36	66580041-7e6c-4467-9116-d96049f2ab59	g.chr5:79374937C>T	ENST00000350881.2	+	19	2557	c.2367C>T	c.(2365-2367)acC>acT	p.T789T	CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_Silent_p.T698T|THBS4_ENST00000504720.1_3'UTR|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	789	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		ATGTGAATACCCAGACAGATG	0.453																																						dbGAP											0													140.0	130.0	134.0					5																	79374937		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.2367C>T	5.37:g.79374937C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R909|Q86TG2	Silent	SNP	pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.T789	ENST00000350881.2	37	c.2367	CCDS4049.1	5																																																																																			THBS4	-	pfam_Thrombospondin_C,superfamily_ConA-like_lec_gl	ENSG00000113296		0.453	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS4	HGNC	protein_coding	OTTHUMT00000226977.1	64	0.00	0	C			79374937	79374937	+1	no_errors	ENST00000350881	ensembl	human	known	69_37n	silent	32	15.79	6	SNP	0.278	T
THSD7B	80731	genome.wustl.edu	37	2	138033556	138033556	+	Silent	SNP	G	G	A	rs369821530		TCGA-D8-A1X8-01A-11D-A14K-09	TCGA-D8-A1X8-10A-01W-A16I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	78c3c787-5731-4c38-8d7a-e5b503b11c36	66580041-7e6c-4467-9116-d96049f2ab59	g.chr2:138033556G>A	ENST00000409968.1	+	12	2638	c.2460G>A	c.(2458-2460)acG>acA	p.T820T	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Silent_p.T820T|THSD7B_ENST00000413152.2_Silent_p.T789T			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	820	TSP type-1 10. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AGGGAATAACGGGCAGCAGTG	0.398																																						dbGAP											0													90.0	99.0	96.0					2																	138033556		1885	4109	5994	-	-	-	SO:0001819	synonymous_variant	0					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.2460G>A	2.37:g.138033556G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.T820	ENST00000409968.1	37	c.2460		2																																																																																			THSD7B	-	superfamily_Thrombospondin_1_rpt	ENSG00000144229		0.398	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	HGNC	protein_coding	OTTHUMT00000331769.2	81	0.00	0	G	XM_046570.9		138033556	138033556	+1	no_errors	ENST00000272643	ensembl	human	known	69_37n	silent	28	36.36	16	SNP	0.219	A
ZMYM3	9203	genome.wustl.edu	37	X	70464640	70464640	+	Splice_Site	SNP	C	C	T			TCGA-D8-A1X8-01A-11D-A14K-09	TCGA-D8-A1X8-10A-01W-A16I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	78c3c787-5731-4c38-8d7a-e5b503b11c36	66580041-7e6c-4467-9116-d96049f2ab59	g.chrX:70464640C>T	ENST00000353904.2	-	19	3298	c.3111G>A	c.(3109-3111)aaG>aaA	p.K1037K	ZMYM3_ENST00000314425.5_Splice_Site_p.K1037K|ZMYM3_ENST00000373988.1_Splice_Site_p.K1039K|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Splice_Site_p.K1039K|ZMYM3_ENST00000373998.1_Splice_Site_p.K1025K	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1037					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CCAGCCCTACCTTCCTCATGG	0.512																																						dbGAP											0													71.0	48.0	56.0					X																	70464640		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.3111+1G>A	X.37:g.70464640C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVV3|O15089|Q96E26	Silent	SNP	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH	p.K1039	ENST00000353904.2	37	c.3117	CCDS14409.1	X																																																																																			ZMYM3	-	NULL	ENSG00000147130		0.512	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZMYM3	HGNC	protein_coding	OTTHUMT00000057154.1	124	0.00	0	C	NM_201599	Silent	70464640	70464640	-1	no_errors	ENST00000373988	ensembl	human	known	69_37n	silent	11	42.11	8	SNP	1.000	T
ZNF483	158399	genome.wustl.edu	37	9	114293154	114293154	+	Splice_Site	SNP	G	G	C			TCGA-D8-A1X8-01A-11D-A14K-09	TCGA-D8-A1X8-10A-01W-A16I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	78c3c787-5731-4c38-8d7a-e5b503b11c36	66580041-7e6c-4467-9116-d96049f2ab59	g.chr9:114293154G>C	ENST00000309235.5	+	3	570		c.e3-1		ZNF483_ENST00000358151.4_Splice_Site|ZNF483_ENST00000355824.3_Splice_Site	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						CCCTTTCCTAGATCCAGTCTC	0.333																																						dbGAP											1	Unknown(1)	lung(1)											99.0	100.0	99.0					9																	114293154		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.413-1G>C	9.37:g.114293154G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VZN2|Q8NAE1	Splice_Site	SNP	-	e2-1	ENST00000309235.5	37	c.413-1	CCDS35106.1	9	.	.	.	.	.	.	.	.	.	.	G	9.191	1.025951	0.19512	.	.	ENSG00000173258	ENST00000358151;ENST00000355824;ENST00000309235	.	.	.	3.62	3.62	0.41486	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0855	0.48084	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF483	113332975	0.970000	0.33590	0.129000	0.21949	0.032000	0.12392	4.018000	0.57174	2.307000	0.77673	0.563000	0.77884	.	ZNF483	-	-	ENSG00000173258		0.333	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF483	HGNC	protein_coding	OTTHUMT00000053641.1	81	0.00	0	G	XM_088567	Intron	114293154	114293154	+1	no_errors	ENST00000309235	ensembl	human	known	69_37n	splice_site	21	34.38	11	SNP	0.161	C
