#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CAF	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_ref_reads_val	i_normal_vaf	i_normal_vaf_val	i_normal_var_reads	i_normal_var_reads_val	i_reference	i_refseq_mrna_id	i_rsID	i_rsID_ref_var_alleles	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_ref_reads	i_tumor_ref_reads_val	i_tumor_vaf	i_tumor_vaf_val	i_tumor_var_reads	i_tumor_var_reads_val	i_type	i_ucsc_cons	i_variant
NR0B1	190	genome.wustl.edu	37	X	30326468	30326468	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chrX:30326468G>A	ENST00000378970.4	-	1	1247	c.1013C>T	c.(1012-1014)aCg>aTg	p.T338M	NR0B1_ENST00000453287.1_Missense_Mutation_p.T338M|NR0B1_ENST00000378963.1_Missense_Mutation_p.T43M	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	338	Ligand-binding. {ECO:0000250}.				adrenal gland development (GO:0030325)|gene expression (GO:0010467)|gonad development (GO:0008406)|hypothalamus development (GO:0021854)|intracellular receptor signaling pathway (GO:0030522)|Leydig cell differentiation (GO:0033327)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of cell differentiation (GO:0045596)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|protein localization (GO:0008104)|response to immobilization stress (GO:0035902)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|steroid biosynthetic process (GO:0006694)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	AF-2 domain binding (GO:0050682)|DNA binding (GO:0003677)|DNA hairpin binding (GO:0032448)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|steroid hormone receptor binding (GO:0035258)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	GTGCTGCAGCGTGGGCACGGG	0.642											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											0											0													27.0	23.0	25.0					X																	30326468		2201	4297	6498	SO:0001583	missense	0			S74720	CCDS14223.1	Xp21.3	2014-06-28			ENSG00000169297	ENSG00000169297		"""Nuclear hormone receptors"""	7960	protein-coding gene	gene with protein product		300473	"""dosage-sensitive sex reversal"""	AHC, DSS		1301166, 10412368	Standard	NM_000475		Approved	DAX1, AHCH	uc004dcf.4	P51843	OTTHUMG00000021323	ENST00000378970.4:c.1013C>T	X.37:g.30326468G>A	ENSP00000368253:p.Thr338Met	816	Q96F69	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt	p.T338M	ENST00000378970.4	37	c.1013	CCDS14223.1	X	.	.	.	.	.	.	.	.	.	.	G	6.857	0.527496	0.13066	.	.	ENSG00000169297	ENST00000378970;ENST00000378963;ENST00000453287	D;D;D	0.96300	-3.97;-1.96;-3.97	4.76	0.92	0.19397	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	1.591830	0.03598	N	0.232871	D	0.93058	0.7790	L	0.40543	1.245	0.09310	N	1	B	0.34313	0.448	B	0.32465	0.146	D	0.85173	0.0999	10	0.46703	T	0.11	-12.6428	5.8986	0.18953	0.2307:0.0:0.6357:0.1335	.	338	P51843	NR0B1_HUMAN	M	338;43;338	ENSP00000368253:T338M;ENSP00000368246:T43M;ENSP00000396403:T338M	ENSP00000368246:T43M	T	-	2	0	NR0B1	30236389	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.033000	0.12246	0.103000	0.17682	-0.245000	0.11935	ACG	0	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core		0.642	NR0B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR0B1	protein_coding	OTTHUMT00000056161.1	74	75	0	0.00	0	0	G	NM_000475	0	0		30326468	-1	no_errors	ENST00000378970	ensembl	human	known	74_37	missense	27	37	41.3	32.14	19	18	SNP	0	A
AMER1	139285	genome.wustl.edu	37	X	63411803	63411803	+	Missense_Mutation	SNP	G	G	T			TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chrX:63411803G>T	ENST00000330258.3	-	2	1636	c.1364C>A	c.(1363-1365)aCt>aAt	p.T455N	AMER1_ENST00000403336.1_Missense_Mutation_p.T455N|AMER1_ENST00000374869.3_Missense_Mutation_p.T455N	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	455					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									ACTCTGAGGAGTCAAAAGTTC	0.552																																							0											67	Whole gene deletion(67)	kidney(65)|ovary(1)|large_intestine(1)											108.0	80.0	90.0					X																	63411803		2203	4300	6503	SO:0001583	missense	0			AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.1364C>A	X.37:g.63411803G>T	ENSP00000329117:p.Thr455Asn		A2IB86|Q8N885	Missense_Mutation	SNP	pfam_Uncharacterised_FAM123	p.T455N	ENST00000330258.3	37	c.1364	CCDS14377.2	X	.	.	.	.	.	.	.	.	.	.	G	16.09	3.025248	0.54683	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.19532	2.14;2.14;2.14	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.46367	0.1389	M	0.68593	2.085	0.43300	D	0.995291	D	0.89917	1.0	D	0.85130	0.997	T	0.40590	-0.9555	10	0.72032	D	0.01	-12.4506	16.762	0.85514	0.0:0.0:1.0:0.0	.	455	Q5JTC6	F123B_HUMAN	N	455	ENSP00000364003:T455N;ENSP00000329117:T455N;ENSP00000384722:T455N	ENSP00000329117:T455N	T	-	2	0	FAM123B	63328528	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.095000	0.71439	2.618000	0.88619	0.600000	0.82982	ACT	0	pfam_Uncharacterised_FAM123		0.552	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AMER1	protein_coding	OTTHUMT00000316584.1	25	211	0	0.00	0	0	G	NM_152424	0	0		63411803	-1	no_errors	ENST00000330258	ensembl	human	known	74_37	missense	9	153	43.75	35.44	7	84	SNP	1	T
LRRC7	57554	genome.wustl.edu	37	1	70488846	70488846	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chr1:70488846G>A	ENST00000035383.5	+	15	1499	c.1469G>A	c.(1468-1470)cGt>cAt	p.R490H	LRRC7_ENST00000310961.5_Missense_Mutation_p.R495H|LRRC7_ENST00000415775.2_Intron|RP11-181B18.1_ENST00000414132.1_RNA|RP11-181B18.1_ENST00000425754.1_RNA	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	490						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGGGGCCAGCGTGGGATTACT	0.547																																							0											0													54.0	50.0	51.0					1																	70488846		2203	4300	6503	SO:0001583	missense	0				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.1469G>A	1.37:g.70488846G>A	ENSP00000035383:p.Arg490His		Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.R490H	ENST00000035383.5	37	c.1469	CCDS645.1	1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.108824	0.56398	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.37752	1.18;1.25	5.86	5.86	0.93980	.	0.257341	0.35495	N	0.003162	T	0.10766	0.0263	N	0.08118	0	0.80722	D	1	P	0.49358	0.923	B	0.35859	0.212	T	0.04333	-1.0959	10	0.56958	D	0.05	.	15.6849	0.77402	0.0:0.0:1.0:0.0	.	490	Q96NW7	LRRC7_HUMAN	H	495;490;313	ENSP00000309245:R495H;ENSP00000035383:R490H	ENSP00000035383:R490H	R	+	2	0	LRRC7	70261434	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.453000	0.60061	2.775000	0.95449	0.585000	0.79938	CGT	0	NULL		0.547	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC7	protein_coding	OTTHUMT00000131261.1	20	128	0	1.54	0	2	G	NM_020794	0	0		70488846	1	no_errors	ENST00000035383	ensembl	human	known	74_37	missense	19	71	42.42	35.45	14	39	SNP	1	A
ADAM30	11085	genome.wustl.edu	37	1	120437039	120437039	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chr1:120437039G>A	ENST00000369400.1	-	1	2079	c.1921C>T	c.(1921-1923)Cgg>Tgg	p.R641W		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	641	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CAAACACCCCGGGTATTGCAT	0.493																																							0											0													59.0	59.0	59.0					1																	120437039		2203	4300	6503	SO:0001583	missense	0			AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.1921C>T	1.37:g.120437039G>A	ENSP00000358407:p.Arg641Trp		A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.R641W	ENST00000369400.1	37	c.1921	CCDS907.1	1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.180162	0.38511	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	D	0.87729	-2.29	5.23	3.28	0.37604	Epidermal growth factor-like, type 3 (1);	0.000000	0.38548	N	0.001655	D	0.92489	0.7615	H	0.94345	3.525	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	D	0.86768	0.1971	10	0.87932	D	0	.	9.65	0.39892	0.0:0.1456:0.6775:0.1769	.	641	Q9UKF2	ADA30_HUMAN	W	641	ENSP00000358407:R641W	ENSP00000358407:R641W	R	-	1	2	ADAM30	120238562	0.121000	0.22262	0.020000	0.16555	0.171000	0.22731	1.089000	0.30890	0.692000	0.31613	0.655000	0.94253	CGG	0	pfscan_EG-like_dom		0.493	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM30	protein_coding	OTTHUMT00000033678.1	49	266	0	0.00	0	0	G	NM_021794	0	0		120437039	-1	no_errors	ENST00000369400	ensembl	human	known	74_37	missense	16	165	42.86	43.88	12	129	SNP	0.119	A
LOC440910	440910	genome.wustl.edu	37	2	132046497	132046497	+	3'UTR	SNP	G	G	A			TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chr2:132046497G>A	ENST00000416266.1	+	0	1329				PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|AC131180.4_ENST00000560285.1_RNA					cytochrome P450, family 4, subfamily F, polypeptide 31, pseudogene																		TGATGCAAGAGTCCTAATCCT	0.542																																							0											0																																										SO:0001624	3_prime_UTR_variant	0					2q21.1	2011-08-02			ENSG00000178206			"""Cytochrome P450s"""	39955	pseudogene	pseudogene							Standard			Approved	CYP4F-se10[6:7:8]				ENST00000416266.1:c.*620G>A	2.37:g.132046497G>A				RNA	SNP	0	NULL	ENST00000416266.1	37	NULL		2																																																																																			0	0		0.542	CYP4F31P-201	KNOWN	basic|appris_principal	protein_coding	LOC440910	protein_coding		30	15	0	0.00	0	0	G		0	0		132046497	1	no_errors	ENST00000560285	ensembl	human	known	74_37	rna	11	7	38.89	36.36	7	4	SNP	0.012	A
BRPF1	7862	genome.wustl.edu	37	3	9786002	9786002	+	Silent	SNP	G	G	T			TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chr3:9786002G>T	ENST00000457855.1	+	8	2723	c.2712G>T	c.(2710-2712)ccG>ccT	p.P904P	BRPF1_ENST00000433861.2_Intron|BRPF1_ENST00000302054.3_Silent_p.P904P|BRPF1_ENST00000383829.2_Silent_p.P910P|BRPF1_ENST00000424362.1_Silent_p.P903P			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	904	Required for RUNX1 and RUNX2 transcriptional activation.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CAGCTGGACCGCCCAAGAGGC	0.642																																							0											0													36.0	44.0	41.0					3																	9786002		2203	4300	6503	SO:0001819	synonymous_variant	0			M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.2712G>T	3.37:g.9786002G>T			B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Silent	SNP	pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain,prints_Bromodomain	p.P910	ENST00000457855.1	37	c.2730	CCDS2575.1	3																																																																																			0	NULL		0.642	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BRPF1	protein_coding	OTTHUMT00000338485.1	142	107	0	0.00	0	0	G	NM_001003694	0	0		9786002	1	no_errors	ENST00000383829	ensembl	human	known	74_37	silent	52	65	44.09	46.28	41	56	SNP	1	T
CTNNB1	1499	genome.wustl.edu	37	3	41280717	41280717	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chr3:41280717C>T	ENST00000349496.5	+	15	2510	c.2230C>T	c.(2230-2232)Cct>Tct	p.P744S	CTNNB1_ENST00000471014.1_3'UTR|CTNNB1_ENST00000453024.1_Missense_Mutation_p.P737S|CTNNB1_ENST00000405570.1_Missense_Mutation_p.P744S|CTNNB1_ENST00000396183.3_Missense_Mutation_p.P744S|CTNNB1_ENST00000396185.3_Missense_Mutation_p.P744S	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	744					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		TGGCCACCACCCTGGTGCTGA	0.557		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)		0		Dom	yes		3	3p22-p21.3	1499	"""catenin (cadherin-associated protein), beta 1"""		"""E, M, O"""	0													81.0	73.0	76.0					3																	41280717		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.2230C>T	3.37:g.41280717C>T	ENSP00000344456:p.Pro744Ser		A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin	p.P744S	ENST00000349496.5	37	c.2230	CCDS2694.1	3	.	.	.	.	.	.	.	.	.	.	C	12.12	1.843038	0.32606	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;0.37	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.44891	0.1315	L	0.33485	1.01	0.80722	D	1	B;B	0.20164	0.042;0.0	B;B	0.16289	0.015;0.001	T	0.25606	-1.0127	10	0.21014	T	0.42	-28.1093	19.7949	0.96477	0.0:1.0:0.0:0.0	.	672;744	B4DSW9;P35222	.;CTNB1_HUMAN	S	744;744;744;737;744	ENSP00000385604:P744S;ENSP00000379486:P744S;ENSP00000344456:P744S;ENSP00000411226:P737S;ENSP00000379488:P744S	ENSP00000344456:P744S	P	+	1	0	CTNNB1	41255721	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.920000	0.70017	2.679000	0.91253	0.557000	0.71058	CCT	0	NULL		0.557	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNB1	protein_coding	OTTHUMT00000254182.2	50	116	0	0.00	0	0	C	NM_001098210	0	0		41280717	1	no_errors	ENST00000349496	ensembl	human	known	74_37	missense	8	58	61.9	46.79	13	51	SNP	1	T
PHOX2B	8929	genome.wustl.edu	37	4	41747864	41747864	+	Missense_Mutation	SNP	T	T	C			TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chr4:41747864T>C	ENST00000226382.2	-	3	1264	c.905A>G	c.(904-906)aAc>aGc	p.N302S	RP11-227F19.1_ENST00000508038.1_RNA	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	302					autonomic nervous system development (GO:0048483)|brainstem development (GO:0003360)|cell differentiation in hindbrain (GO:0021533)|cellular response to BMP stimulus (GO:0071773)|dopaminergic neuron differentiation (GO:0071542)|efferent axon development in a lateral line nerve (GO:0048894)|enteric nervous system development (GO:0048484)|glial cell differentiation (GO:0010001)|hindbrain tangential cell migration (GO:0021934)|inner ear development (GO:0048839)|medullary reticular formation development (GO:0021723)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|noradrenergic neuron development (GO:0003358)|noradrenergic neuron differentiation (GO:0003357)|parasympathetic nervous system development (GO:0048486)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression (GO:0010468)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory system development (GO:0060541)|retrotrapezoid nucleus neuron differentiation (GO:0061452)|skeletal muscle cell differentiation (GO:0035914)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						TTTGGCACCGTTGGGTCTTTG	0.687			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																														0	yes	Rec	yes	familial neuroblastoma	4	4p12	8929	paired-like homeobox 2b	yes	O	0													25.0	34.0	31.0					4																	41747864		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D82344	CCDS3463.1	4p13	2014-09-17	2003-02-10	2003-02-14	ENSG00000109132	ENSG00000109132		"""Homeoboxes / PRD class"""	9143	protein-coding gene	gene with protein product		603851	"""paired mesoderm homeobox 2b"""	PMX2B		9039501, 10395798	Standard	NM_003924		Approved	Phox2b, NBPhox	uc003gwf.4	Q99453	OTTHUMG00000099379	ENST00000226382.2:c.905A>G	4.37:g.41747864T>C	ENSP00000226382:p.Asn302Ser		Q6PJD9	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Antifreeze_1	p.N302S	ENST00000226382.2	37	c.905	CCDS3463.1	4	.	.	.	.	.	.	.	.	.	.	T	14.30	2.493817	0.44352	.	.	ENSG00000109132	ENST00000226382	D	0.92048	-2.96	3.81	3.81	0.43845	.	0.103041	0.64402	D	0.000005	T	0.81987	0.4939	N	0.14661	0.345	0.46437	D	0.999045	P	0.38827	0.649	B	0.34779	0.189	T	0.79983	-0.1573	10	0.18710	T	0.47	.	11.9216	0.52795	0.0:0.0:0.0:1.0	.	302	Q99453	PHX2B_HUMAN	S	302	ENSP00000226382:N302S	ENSP00000226382:N302S	N	-	2	0	PHOX2B	41442621	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.762000	0.38451	1.719000	0.51432	0.254000	0.18369	AAC	0	NULL		0.687	PHOX2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHOX2B	protein_coding	OTTHUMT00000216832.2	24	137	0	0.00	0	0	T		0	0		41747864	-1	no_errors	ENST00000226382	ensembl	human	known	74_37	missense	14	72	41.67	37.93	10	44	SNP	1	C
METTL14	57721	genome.wustl.edu	37	4	119626850	119626850	+	Missense_Mutation	SNP	A	A	G			TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chr4:119626850A>G	ENST00000388822.5	+	10	1107	c.940A>G	c.(940-942)Att>Gtt	p.I314V	METTL14_ENST00000506780.1_Missense_Mutation_p.I276V			Q9HCE5	MET14_HUMAN	methyltransferase like 14	314					mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						CATTGACTTAATTATCACAGA	0.373																																							0											0													137.0	137.0	137.0					4																	119626850		2203	4300	6503	SO:0001583	missense	0			AB046847	CCDS34053.1	4q26	2009-02-24			ENSG00000145388	ENSG00000145388			29330	protein-coding gene	gene with protein product						10997877	Standard	NM_020961		Approved	KIAA1627	uc003icf.3	Q9HCE5	OTTHUMG00000161167	ENST00000388822.5:c.940A>G	4.37:g.119626850A>G	ENSP00000373474:p.Ile314Val		A6NIG1|Q969V2	Missense_Mutation	SNP	pfam_MT-A70-like,pfscan_MT-A70-like	p.I314V	ENST00000388822.5	37	c.940	CCDS34053.1	4	.	.	.	.	.	.	.	.	.	.	A	24.8	4.569264	0.86439	.	.	ENSG00000145388	ENST00000388822;ENST00000506780	T;T	0.53206	0.63;0.63	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.69700	0.3140	M	0.79926	2.475	0.80722	D	1	D;D	0.67145	0.996;0.994	D;D	0.65573	0.914;0.936	T	0.74551	-0.3628	10	0.87932	D	0	-3.4559	16.1758	0.81851	1.0:0.0:0.0:0.0	.	276;314	D6RBL4;Q9HCE5	.;MTL14_HUMAN	V	314;276	ENSP00000373474:I314V;ENSP00000424111:I276V	ENSP00000373474:I314V	I	+	1	0	METTL14	119846298	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.730000	0.91510	2.225000	0.72522	0.477000	0.44152	ATT	0	pfam_MT-A70-like,pfscan_MT-A70-like		0.373	METTL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL14	protein_coding	OTTHUMT00000364034.3	95	269	0	0.37	0	1	A	NM_020961	0	0		119626850	1	no_errors	ENST00000388822	ensembl	human	known	74_37	missense	52	229	16.13	14.87	10	40	SNP	1	G
SYNE1	23345	genome.wustl.edu	37	6	152734623	152734623	+	Missense_Mutation	SNP	C	C	G	rs367594476		TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chr6:152734623C>G	ENST00000367255.5	-	42	6695	c.6094G>C	c.(6094-6096)Gag>Cag	p.E2032Q	SYNE1_ENST00000341594.5_Missense_Mutation_p.E2069Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.E2032Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.E2039Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.E2039Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2032					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGTTCATGCTCGTGAGAATTC	0.343										HNSCC(10;0.0054)																													0											0													170.0	157.0	161.0					6																	152734623		2203	4300	6503	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.6094G>C	6.37:g.152734623C>G	ENSP00000356224:p.Glu2032Gln		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E2032Q	ENST00000367255.5	37	c.6094	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	11.01	1.514587	0.27123	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35	5.39	5.39	0.77823	.	0.102248	0.42821	D	0.000651	T	0.06690	0.0171	N	0.11023	0.085	0.80722	D	1	B;B;B;B	0.22541	0.071;0.024;0.024;0.009	B;B;B;B	0.22753	0.041;0.013;0.013;0.013	T	0.20605	-1.0270	10	0.06625	T	0.88	.	8.5129	0.33229	0.0:0.7105:0.2053:0.0842	.	2015;2032;2032;2039	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	Q	2032;2039;2032;2039;2069	ENSP00000356224:E2032Q;ENSP00000396024:E2039Q;ENSP00000265368:E2032Q;ENSP00000390975:E2039Q;ENSP00000341887:E2069Q	ENSP00000265368:E2032Q	E	-	1	0	SYNE1	152776316	1.000000	0.71417	0.997000	0.53966	0.627000	0.37826	4.665000	0.61547	2.537000	0.85549	0.655000	0.94253	GAG	0	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom		0.343	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	protein_coding	OTTHUMT00000334755.2	134	285	0	0.00	0	0	C	NM_182961	0	0		152734623	-1	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	63	150	30	38.11	27	93	SNP	1	G
GTF2I	2969	genome.wustl.edu	37	7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A			TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H|GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H|GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13.0	13.0	13.0					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"""General transcription factors"""	4659	protein-coding gene	gene with protein product		601679	"""general transcription factor II, i"""	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	512	120	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	170	66	44.26	50.38	135	67	SNP	1	A
RP1L1	94137	genome.wustl.edu	37	8	10466172	10466172	+	Missense_Mutation	SNP	G	G	T			TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chr8:10466172G>T	ENST00000382483.3	-	4	5659	c.5436C>A	c.(5434-5436)gaC>gaA	p.D1812E		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1892					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCTGCAAGTTGTCCTCATGCC	0.617																																							0											0													171.0	194.0	186.0					8																	10466172		2122	4224	6346	SO:0001583	missense	0			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5436C>A	8.37:g.10466172G>T	ENSP00000371923:p.Asp1812Glu		Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.D1812E	ENST00000382483.3	37	c.5436	CCDS43708.1	8	.	.	.	.	.	.	.	.	.	.	G	3.134	-0.177802	0.06380	.	.	ENSG00000183638	ENST00000382483	T	0.04156	3.69	4.59	-1.57	0.08506	.	2.377180	0.02593	U	0.100218	T	0.02649	0.0080	N	0.19112	0.55	0.09310	N	1	B	0.30824	0.296	B	0.26864	0.074	T	0.33471	-0.9867	10	0.10111	T	0.7	0.3996	0.647	0.00820	0.2734:0.1122:0.3075:0.307	.	1812	A6NKC6	.	E	1812	ENSP00000371923:D1812E	ENSP00000371923:D1812E	D	-	3	2	RP1L1	10503582	0.000000	0.05858	0.000000	0.03702	0.151000	0.21798	-0.553000	0.06012	-0.271000	0.09272	0.455000	0.32223	GAC	0	NULL		0.617	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	protein_coding	OTTHUMT00000375673.1	35	201	2.78	0.00	1	0	G		0	0		10466172	-1	no_errors	ENST00000382483	ensembl	human	known	74_37	missense	26	204	10.34	7.66	3	17	SNP	0	T
PLIN2	123	genome.wustl.edu	37	9	19120930	19120930	+	Silent	SNP	G	G	T			TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chr9:19120930G>T	ENST00000276914.2	-	5	722	c.543C>A	c.(541-543)acC>acA	p.T181T	PLIN2_ENST00000411567.1_Intron	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	181					cellular lipid metabolic process (GO:0044255)|lipid storage (GO:0019915)|long-chain fatty acid transport (GO:0015909)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						GCTCTGATTTGGTGAGTGCAT	0.438																																							0											0													149.0	131.0	137.0					9																	19120930		2203	4300	6503	SO:0001819	synonymous_variant	0			X97324	CCDS6490.1	9p22.1	2009-08-12	2009-08-12	2009-08-12	ENSG00000147872	ENSG00000147872		"""Perilipins"""	248	protein-coding gene	gene with protein product	"""adipophilin"""	103195	"""adipose differentiation-related protein"""	ADFP		9003395, 19638644	Standard	NM_001122		Approved	ADRP	uc003zno.3	Q99541	OTTHUMG00000019624	ENST00000276914.2:c.543C>A	9.37:g.19120930G>T			Q9BSC3	Silent	SNP	pfam_Perilipin,pirsf_Perilipin	p.T181	ENST00000276914.2	37	c.543	CCDS6490.1	9																																																																																			0	pfam_Perilipin,pirsf_Perilipin		0.438	PLIN2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	PLIN2	protein_coding	OTTHUMT00000051835.1	31	162	0	0.00	0	0	G	NM_001122	0	0		19120930	-1	no_errors	ENST00000276914	ensembl	human	known	74_37	silent	14	116	36.36	38.22	8	73	SNP	0.998	T
HRAS	3265	genome.wustl.edu	37	11	534285	534285	+	Missense_Mutation	SNP	C	C	A	rs104894226		TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chr11:534285C>A	ENST00000451590.1	-	2	225	c.38G>T	c.(37-39)gGt>gTt	p.G13V	HRAS_ENST00000397596.2_Missense_Mutation_p.G13V|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.G13V|HRAS_ENST00000311189.7_Missense_Mutation_p.G13V|HRAS_ENST00000417302.1_Missense_Mutation_p.G13V	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	13			G -> C (in CSTLO). {ECO:0000269|PubMed:16329078}.|G -> D (in CSTLO). {ECO:0000269|PubMed:16170316}.|G -> R (in SFM; somatic mutation; shows constitutive activation of the MAPK and PI3K-AKT signaling pathways). {ECO:0000269|PubMed:22683711}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.G13V(14)|p.G13D(10)|p.G12_G13insAG(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTTGCCCACACCGCCGGCGCC	0.642		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																													0	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	v-Ha-ras Harvey rat sarcoma viral oncogene homolog		"""E, L, M"""	25	Substitution - Missense(24)|Insertion - In frame(1)	upper_aerodigestive_tract(9)|thyroid(5)|urinary_tract(5)|lung(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|thymus(1)	GRCh37	CM053285	HRAS	M	rs104894226						89.0	83.0	85.0					11																	534285		2202	4300	6502	SO:0001583	missense	0	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.38G>T	11.37:g.534285C>A	ENSP00000407586:p.Gly13Val		B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.G13V	ENST00000451590.1	37	c.38	CCDS7698.1	11	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344392	0.61073	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81	3.0	3.0	0.34707	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.88716	0.6512	H	0.94264	3.515	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.69824	0.943;0.966	D	0.92025	0.5629	10	0.87932	D	0	.	14.1517	0.65389	0.0:1.0:0.0:0.0	.	13;13	P01112-2;P01112	.;RASH_HUMAN	V	13	ENSP00000380722:G13V;ENSP00000380723:G13V;ENSP00000407586:G13V;ENSP00000388246:G13V;ENSP00000309845:G13V	ENSP00000309845:G13V	G	-	2	0	HRAS	524285	1.000000	0.71417	0.470000	0.27216	0.232000	0.25224	7.472000	0.80996	1.986000	0.57962	0.561000	0.74099	GGT	0	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.642	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	HRAS	protein_coding	OTTHUMT00000259403.2	45	88	0	0.00	0	0	C	NM_176795	rs104894226	C->A,G,T		534285	-1	no_errors	ENST00000311189	ensembl	human	known	74_37	missense	9	51	64	46.32	16	44	SNP	1	A
DYNC2H1	79659	genome.wustl.edu	37	11	103019260	103019260	+	Nonsense_Mutation	SNP	G	G	T	rs61898615	byFrequency	TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chr11:103019260G>T	ENST00000375735.2	+	20	3004	c.2860G>T	c.(2860-2862)Gaa>Taa	p.E954*	DYNC2H1_ENST00000398093.3_Nonsense_Mutation_p.E954*|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	954	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TGAGGCTATGGAAGTCTTAAC	0.333																																							0											0													79.0	69.0	72.0					11																	103019260		1825	4083	5908	SO:0001587	stop_gained	0			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.2860G>T	11.37:g.103019260G>T	ENSP00000364887:p.Glu954*		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.E954*	ENST00000375735.2	37	c.2860	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	G	41	8.702773	0.98920	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	.	.	.	5.64	4.72	0.59763	.	0.262756	0.29676	U	0.011487	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	10.883	0.46951	0.1531:0.0:0.8469:0.0	.	.	.	.	X	954	.	ENSP00000364887:E954X	E	+	1	0	DYNC2H1	102524470	1.000000	0.71417	0.991000	0.47740	0.975000	0.68041	3.831000	0.55776	1.354000	0.45846	0.585000	0.79938	GAA	0	NULL		0.333	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	protein_coding	OTTHUMT00000387196.1	105	257	0	0.00	0	0	G	XM_370652	0	0		103019260	1	no_errors	ENST00000398093	ensembl	human	known	74_37	nonsense	33	156	34	37.70	17	95	SNP	1	T
CD3E	916	genome.wustl.edu	37	11	118184528	118184528	+	Missense_Mutation	SNP	G	G	T			TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chr11:118184528G>T	ENST00000361763.4	+	7	750	c.459G>T	c.(457-459)aaG>aaT	p.K153N	CD3E_ENST00000528600.1_Missense_Mutation_p.K147N	NM_000733.3	NP_000724.1	P07766	CD3E_HUMAN	CD3e molecule, epsilon (CD3-TCR complex)	153					apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of smoothened signaling pathway (GO:0045879)|negative thymic T cell selection (GO:0045060)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell anergy (GO:0002669)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)|regulation of immune response (GO:0050776)|response to nutrient (GO:0007584)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)|SH3 domain binding (GO:0017124)|T cell receptor binding (GO:0042608)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	ACTGGAGCAAGAATAGAAAGG	0.552																																							0											0													77.0	68.0	71.0					11																	118184528		2200	4296	6496	SO:0001583	missense	0			X03884	CCDS31685.1	11q23	2014-09-17	2006-03-28		ENSG00000198851	ENSG00000198851		"""CD molecules"""	1674	protein-coding gene	gene with protein product		186830	"""CD3e antigen, epsilon polypeptide (TiT3 complex)"""				Standard	NM_000733		Approved		uc001psq.4	P07766	OTTHUMG00000166968	ENST00000361763.4:c.459G>T	11.37:g.118184528G>T	ENSP00000354566:p.Lys153Asn		A8K997	Missense_Mutation	SNP	pfam_Phos_immunorcpt_sig_ITAM,smart_Ig_sub2,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM	p.K153N	ENST00000361763.4	37	c.459	CCDS31685.1	11	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241433	0.79912	.	.	ENSG00000198851	ENST00000361763;ENST00000528600	T;T	0.28454	1.61;1.61	4.97	4.97	0.65823	.	0.057363	0.64402	D	0.000002	T	0.60869	0.2302	M	0.88031	2.925	0.49130	D	0.999757	D	0.89917	1.0	D	0.85130	0.997	T	0.67448	-0.5668	10	0.66056	D	0.02	.	13.5993	0.62010	0.0:0.0:1.0:0.0	.	153	P07766	CD3E_HUMAN	N	153;147	ENSP00000354566:K153N;ENSP00000433975:K147N	ENSP00000354566:K153N	K	+	3	2	CD3E	117689738	0.999000	0.42202	0.987000	0.45799	0.973000	0.67179	1.810000	0.38932	2.582000	0.87167	0.491000	0.48974	AAG	0	NULL		0.552	CD3E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD3E	protein_coding	OTTHUMT00000392120.1	28	84	0	0.00	0	0	G	NM_000733	0	0		118184528	1	no_errors	ENST00000361763	ensembl	human	known	74_37	missense	10	72	60	42.40	15	53	SNP	0.987	T
NFATC4	4776	genome.wustl.edu	37	14	24839464	24839464	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chr14:24839464G>A	ENST00000250373.4	+	2	1001	c.860G>A	c.(859-861)cGt>cAt	p.R287H	NFATC4_ENST00000553469.1_Missense_Mutation_p.R319H|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000556759.1_5'Flank|NFATC4_ENST00000554966.1_Missense_Mutation_p.R300H|NFATC4_ENST00000555167.1_5'Flank|NFATC4_ENST00000554591.1_Missense_Mutation_p.R350H|NFATC4_ENST00000424781.2_Missense_Mutation_p.R300H|NFATC4_ENST00000556169.1_Missense_Mutation_p.R275H|NFATC4_ENST00000553879.1_Missense_Mutation_p.R217H|NFATC4_ENST00000413692.2_Missense_Mutation_p.R350H|NFATC4_ENST00000555590.1_Missense_Mutation_p.R300H|NFATC4_ENST00000539237.2_Missense_Mutation_p.R319H|NFATC4_ENST00000556279.1_Missense_Mutation_p.R319H|NFATC4_ENST00000554473.1_5'Flank|NFATC4_ENST00000555453.1_Missense_Mutation_p.R275H|NFATC4_ENST00000422617.3_Missense_Mutation_p.R275H|NFATC4_ENST00000553708.1_Missense_Mutation_p.R287H|NFATC4_ENST00000554661.1_Missense_Mutation_p.R217H|NFATC4_ENST00000557451.1_Missense_Mutation_p.R217H|NFATC4_ENST00000554050.1_Missense_Mutation_p.R287H|NFATC4_ENST00000554344.1_Missense_Mutation_p.R217H	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	287	2 approximate SP repeats.|Pro-rich.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CTGTCCCGCCGTGGCAGCCTG	0.706																																							0											0													15.0	18.0	17.0					14																	24839464		2195	4282	6477	SO:0001583	missense	0			BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.860G>A	14.37:g.24839464G>A	ENSP00000250373:p.Arg287His		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT	p.R350H	ENST00000250373.4	37	c.1049	CCDS9629.1	14	.	.	.	.	.	.	.	.	.	.	G	19.93	3.917416	0.73098	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000250373;ENST00000553708;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29	4.26	4.26	0.50523	.	0.000000	0.64402	D	0.000003	T	0.34542	0.0901	L	0.47716	1.5	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.997;0.997;1.0;0.997;1.0;1.0;0.997;0.997;0.997;0.997;1.0;0.998;1.0;1.0	P;P;D;P;D;D;P;P;P;P;D;P;D;D	0.91635	0.748;0.871;0.999;0.871;0.999;0.999;0.871;0.871;0.871;0.871;0.999;0.813;0.999;0.998	T	0.06954	-1.0798	10	0.72032	D	0.01	-3.7082	14.5485	0.68050	0.0:0.0:1.0:0.0	.	275;275;319;319;300;300;300;350;350;275;319;264;350;287	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-5;B4DU09;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	H	350;350;300;300;300;319;319;319;287;287;287;217;217;217;275;217;275;275	ENSP00000388910:R350H;ENSP00000452039:R350H;ENSP00000451224:R300H;ENSP00000450644:R300H;ENSP00000388668:R300H;ENSP00000439350:R319H;ENSP00000452270:R319H;ENSP00000451502:R319H;ENSP00000451151:R287H;ENSP00000250373:R287H;ENSP00000450590:R287H;ENSP00000452349:R217H;ENSP00000450469:R217H;ENSP00000450733:R217H;ENSP00000451454:R275H;ENSP00000451284:R217H;ENSP00000396788:R275H;ENSP00000450686:R275H	ENSP00000250373:R287H	R	+	2	0	NFATC4	23909304	0.850000	0.29656	0.920000	0.36463	0.981000	0.71138	2.084000	0.41625	2.368000	0.80403	0.467000	0.42956	CGT	0	NULL		0.706	NFATC4-001	KNOWN	basic|CCDS	protein_coding	NFATC4	protein_coding	OTTHUMT00000073206.6	64	80	0	0.00	0	0	G	NM_004554	0	0		24839464	1	no_errors	ENST00000413692	ensembl	human	known	74_37	missense	39	33	33.9	47.62	20	30	SNP	0.934	A
SOS2	6655	genome.wustl.edu	37	14	50697942	50697942	+	Silent	SNP	C	C	G			TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chr14:50697942C>G	ENST00000216373.5	-	1	334	c.60G>C	c.(58-60)cgG>cgC	p.R20R	SOS2_ENST00000543680.1_Silent_p.R20R	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	20					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					CCAACAGTCCCCGCCATTTCG	0.721																																							0											0													13.0	16.0	15.0					14																	50697942		2200	4294	6494	SO:0001819	synonymous_variant	0			L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.60G>C	14.37:g.50697942C>G			B7ZKT6|D3DSB4|Q15503|Q17RN1	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.R20	ENST00000216373.5	37	c.60	CCDS9697.1	14																																																																																			0	superfamily_Histone-fold		0.721	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOS2	protein_coding	OTTHUMT00000276878.2	10	81	0	0.00	0	0	C		0	0		50697942	-1	no_errors	ENST00000216373	ensembl	human	known	74_37	silent	5	58	66.67	32.56	10	28	SNP	1	G
ADAM21P1	145241	genome.wustl.edu	37	14	70712650	70712650	+	RNA	SNP	A	A	C			TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chr14:70712650A>C	ENST00000530196.1	-	0	1868					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		AAGTAAAATGATCTTGGAGAA	0.398																																							0											0																																												0					14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70712650A>C				RNA	SNP	0	NULL	ENST00000530196.1	37	NULL		14																																																																																			0	0		0.398	ADAM21P1-002	KNOWN	basic	processed_transcript	ADAM21P1	pseudogene	OTTHUMT00000390451.1	115	100	0	0.00	0	0	A	NG_002467	0	0		70712650	-1	no_errors	ENST00000530196	ensembl	human	known	74_37	rna	49	85	34.67	33.59	26	43	SNP	0.004	C
ARHGAP23	57636	genome.wustl.edu	37	17	36622966	36622966	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chr17:36622966C>T	ENST00000431231.2	+	7	1110	c.1042C>T	c.(1042-1044)Cga>Tga	p.R348*	ARHGAP23_ENST00000437668.3_Nonsense_Mutation_p.R348*|ARHGAP23_ENST00000443378.1_Nonsense_Mutation_p.R254*	NM_001199417.1	NP_001186346.1	Q9P227	RHG23_HUMAN	Rho GTPase activating protein 23	348					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(8)|kidney(6)|lung(1)|skin(1)|stomach(2)	20						GGGCTGGCACCGAGCTCGCTC	0.706																																							0											0													10.0	15.0	13.0					17																	36622966		691	1585	2276	SO:0001587	stop_gained	0			AB040934	CCDS56027.1	17q12	2014-05-06			ENSG00000225485	ENSG00000275832		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	29293	protein-coding gene	gene with protein product		610590				10819331, 15254754	Standard	NM_001199417		Approved	KIAA1501	uc021twd.1	Q9P227	OTTHUMG00000188547	ENST00000431231.2:c.1042C>T	17.37:g.36622966C>T	ENSP00000393539:p.Arg348*			Nonsense_Mutation	SNP	pfam_RhoGAP_dom,pfam_PDZ,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.R348*	ENST00000431231.2	37	c.1042	CCDS56027.1	17	.	.	.	.	.	.	.	.	.	.	C	37	5.994035	0.97184	.	.	ENSG00000225485	ENST00000437668;ENST00000431231;ENST00000443378	.	.	.	4.4	4.4	0.53042	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8972	0.79344	0.0:1.0:0.0:0.0	.	.	.	.	X	348;348;254	.	ENSP00000393539:R348X	R	+	1	2	ARHGAP23	33876492	0.574000	0.26684	1.000000	0.80357	0.992000	0.81027	1.638000	0.37165	2.297000	0.77311	0.555000	0.69702	CGA	0	NULL		0.706	ARHGAP23-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP23	protein_coding	OTTHUMT00000441789.1	27	32	0	0.00	0	0	C	XM_290799	0	0		36622966	1	no_errors	ENST00000431231	ensembl	human	known	74_37	nonsense	14	43	39.13	10.42	9	5	SNP	1	T
SCN4A	6329	genome.wustl.edu	37	17	62043590	62043590	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chr17:62043590C>T	ENST00000435607.1	-	8	1190	c.1114G>A	c.(1114-1116)Ggt>Agt	p.G372S	SCN4A_ENST00000578147.1_Missense_Mutation_p.G372S	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	372					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CACTCATAACCCTCAGGGCAG	0.577																																							0											0													39.0	42.0	41.0					17																	62043590		2043	4214	6257	SO:0001583	missense	0			U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.1114G>A	17.37:g.62043590C>T	ENSP00000396320:p.Gly372Ser		Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2	p.G372S	ENST00000435607.1	37	c.1114	CCDS45761.1	17	.	.	.	.	.	.	.	.	.	.	C	21.7	4.189440	0.78789	.	.	ENSG00000007314	ENST00000435607	D	0.96967	-4.19	4.44	4.44	0.53790	Ion transport (1);	0.051499	0.85682	D	0.000000	D	0.96476	0.8850	M	0.79926	2.475	0.53688	D	0.999975	P	0.47962	0.903	P	0.50082	0.63	D	0.96149	0.9106	10	0.62326	D	0.03	.	9.9337	0.41539	0.0:0.9068:0.0:0.0932	.	372	P35499	SCN4A_HUMAN	S	372	ENSP00000396320:G372S	ENSP00000396320:G372S	G	-	1	0	SCN4A	59397322	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	4.834000	0.62774	2.298000	0.77334	0.313000	0.20887	GGT	0	pfam_Ion_trans_dom		0.577	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN4A	protein_coding		96	173	0	0.00	0	0	C	NM_000334	0	0		62043590	-1	no_errors	ENST00000435607	ensembl	human	known	74_37	missense	34	103	34.62	29.45	18	43	SNP	1	T
MUC16	94025	genome.wustl.edu	37	19	9063747	9063747	+	Nonsense_Mutation	SNP	G	G	C			TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chr19:9063747G>C	ENST00000397910.4	-	3	23902	c.23699C>G	c.(23698-23700)tCa>tGa	p.S7900*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7902	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TATTTCTGCTGATTCTGTCAT	0.493																																							0											0													221.0	201.0	207.0					19																	9063747		2018	4188	6206	SO:0001587	stop_gained	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.23699C>G	19.37:g.9063747G>C	ENSP00000381008:p.Ser7900*		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.S7900*	ENST00000397910.4	37	c.23699	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	59	37.229337	0.99984	.	.	ENSG00000181143	ENST00000397910	.	.	.	2.05	-2.16	0.07080	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	2.1314	0.03751	0.3432:0.0:0.4074:0.2494	.	.	.	.	X	7900	.	ENSP00000381008:S7900X	S	-	2	0	MUC16	8924747	0.001000	0.12720	0.000000	0.03702	0.137000	0.21094	0.196000	0.17176	-0.372000	0.07992	0.187000	0.17357	TCA	0	NULL		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	51	255	0	0.00	0	0	G	NM_024690	0	0		9063747	-1	no_errors	ENST00000397910	ensembl	human	known	74_37	nonsense	17	137	46.88	47.71	15	125	SNP	0	C
SEPW1	6415	genome.wustl.edu	37	19	48282004	48282004	+	5'UTR	SNP	C	C	T	rs368032623		TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chr19:48282004C>T	ENST00000601048.1	+	0	176				SEPW1_ENST00000595615.1_5'UTR|SEPW1_ENST00000509570.2_5'UTR|SEPW1_ENST00000593892.1_5'UTR|SEPW1_ENST00000601419.1_3'UTR	NM_003009.2	NP_003000.1	P63302	SELW_HUMAN	selenoprotein W, 1						cell redox homeostasis (GO:0045454)	cytoplasm (GO:0005737)	antioxidant activity (GO:0016209)|selenium binding (GO:0008430)			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		all cancers(93;0.000291)|OV - Ovarian serous cystadenocarcinoma(262;0.000305)|Epithelial(262;0.0146)|GBM - Glioblastoma multiforme(486;0.0273)		TAGTGTGGCCCGGGCGTCCGC	0.692													C|||	1	0.000199681	0.0008	0.0	5008	,	,		11960	0.0		0.0	False		,,,				2504	0.0						0.9998,0.0001997											0								C		1,3823		0,1,1911	11.0	14.0	13.0			-0.8	0.0	19		13	0,8194		0,0,4097	no	utr-5	SEPW1	NM_003009.2		0,1,6008	TT,TC,CC		0.0,0.0262,0.0083			48282004	1,12017	1912	4097	6009	SO:0001623	5_prime_UTR_variant	0			U67171	CCDS59402.1	19q13.33	2012-05-22			ENSG00000178980	ENSG00000178980			10752	protein-coding gene	gene with protein product		603235				9256076	Standard	NM_003009		Approved	selW	uc021uwp.1	P63302		ENST00000601048.1:c.-39C>T	19.37:g.48282004C>T			A8MRR7|O15532|O19096|Q86TI9|Q96KM5	RNA	SNP	0	NULL	ENST00000601048.1	37	NULL	CCDS59402.1	19																																																																																			0	0		0.692	SEPW1-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS|seleno	protein_coding	SEPW1	protein_coding	OTTHUMT00000464884.1	29	47	0	0.00	0	0	C	NM_003009	rs368032623	C->T		48282004	1	no_errors	ENST00000599302	ensembl	human	known	74_37	rna	9	21	60.87	38.24	14	13	SNP	0	T
PAX1	5075	genome.wustl.edu	37	20	21690063	21690063	+	Silent	SNP	C	C	T			TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chr20:21690063C>T	ENST00000398485.2	+	4	1317	c.1263C>T	c.(1261-1263)ttC>ttT	p.F421F	PAX1_ENST00000444366.2_Silent_p.F397F	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	421					bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CAATGACCTTCAAGCATCCCA	0.697																																							0											0													7.0	7.0	7.0					20																	21690063		1973	3801	5774	SO:0001819	synonymous_variant	0				CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"""Paired boxes"""	8615	protein-coding gene	gene with protein product		167411	"""paired box gene 1"""			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.1263C>T	20.37:g.21690063C>T			B4E0D6|Q642X9|Q6NTC0|Q9Y558	Silent	SNP	pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom	p.F421	ENST00000398485.2	37	c.1263	CCDS13146.2	20																																																																																			0	NULL		0.697	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAX1	protein_coding	OTTHUMT00000078282.3	11	54	0	0.00	0	0	C		0	0		21690063	1	no_errors	ENST00000398485	ensembl	human	known	74_37	silent	5	37	37.5	47.89	3	34	SNP	1	T
CDH22	64405	genome.wustl.edu	37	20	44869801	44869801	+	Silent	SNP	G	G	A			TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chr20:44869801G>A	ENST00000372262.3	-	2	751	c.351C>T	c.(349-351)ggC>ggT	p.G117G	CDH22_ENST00000537909.1_Silent_p.G117G	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	117	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CATGAATGTCGCCTGTCAGCT	0.637																																							0											0													79.0	68.0	72.0					20																	44869801		2203	4300	6503	SO:0001819	synonymous_variant	0			AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.351C>T	20.37:g.44869801G>A			B9EGK7|O43205	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,superfamily_MFS_dom_general_subst_transpt,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G117	ENST00000372262.3	37	c.351	CCDS13395.1	20																																																																																			0	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.637	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH22	protein_coding	OTTHUMT00000080491.1	39	93	0	0.00	0	0	G	NM_021248	0	0		44869801	-1	no_errors	ENST00000372262	ensembl	human	known	74_37	silent	8	37	66.67	45.59	16	31	SNP	0.024	A
LZTR1	8216	genome.wustl.edu	37	22	21337374	21337374	+	Missense_Mutation	SNP	A	A	G			TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chr22:21337374A>G	ENST00000215739.8	+	2	618	c.259A>G	c.(259-261)Aat>Gat	p.N87D	XXbac-B135H6.18_ENST00000610278.1_lincRNA|LZTR1_ENST00000389355.3_Missense_Mutation_p.N87D|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	87					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGGTGGAGACAATGGGTGAGT	0.527																																							0											0													169.0	151.0	157.0					22																	21337374		2203	4300	6503	SO:0001583	missense	0			D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.259A>G	22.37:g.21337374A>G	ENSP00000215739:p.Asn87Asp		Q14776|Q20WK0	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.N87D	ENST00000215739.8	37	c.259	CCDS33606.1	22	.	.	.	.	.	.	.	.	.	.	A	17.69	3.451711	0.63290	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.66995	1.06;-0.24	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.61689	0.2367	N	0.05078	-0.115	0.80722	D	1	P;B;D	0.67145	0.615;0.274;0.996	B;B;D	0.76071	0.1;0.363;0.987	T	0.62129	-0.6919	10	0.25751	T	0.34	-21.3159	11.8581	0.52451	1.0:0.0:0.0:0.0	.	87;87;46	B7Z3T9;Q8N653;F5GXU8	.;LZTR1_HUMAN;.	D	46;87;87	ENSP00000215739:N87D;ENSP00000374006:N87D	ENSP00000215739:N87D	N	+	1	0	LZTR1	19667374	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.571000	0.90752	1.897000	0.54924	0.459000	0.35465	AAT	0	pfam_Kelch_1,smart_Kelch_1		0.527	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTR1	protein_coding	OTTHUMT00000320387.1	71	195	0	0.00	0	0	A	NM_006767	0	0		21337374	1	no_errors	ENST00000215739	ensembl	human	known	74_37	missense	29	119	39.58	33.33	19	60	SNP	1	G
TCF20	6942	genome.wustl.edu	37	22	42608141	42608141	+	Missense_Mutation	SNP	T	T	G			TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chr22:42608141T>G	ENST00000359486.3	-	1	3307	c.3171A>C	c.(3169-3171)gaA>gaC	p.E1057D	TCF20_ENST00000335626.4_Missense_Mutation_p.E1057D|TCF20_ENST00000404876.1_5'Flank	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1057					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						AGGCCAGGGTTTCTGAGTTGG	0.498																																							0											0													69.0	70.0	70.0					22																	42608141		2203	4300	6503	SO:0001583	missense	0			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.3171A>C	22.37:g.42608141T>G	ENSP00000352463:p.Glu1057Asp		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	smart_Znf_PHD	p.E1057D	ENST00000359486.3	37	c.3171	CCDS14033.1	22	.	.	.	.	.	.	.	.	.	.	T	13.45	2.239882	0.39598	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.60040	0.22;0.22	5.81	-0.398	0.12418	.	0.076607	0.53938	D	0.000045	T	0.28466	0.0704	N	0.12182	0.205	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.02603	-1.1135	10	0.32370	T	0.25	-12.2894	1.3909	0.02250	0.1184:0.2007:0.2451:0.4358	.	1057;1057	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	D	1057	ENSP00000352463:E1057D;ENSP00000335561:E1057D	ENSP00000335561:E1057D	E	-	3	2	TCF20	40938085	0.998000	0.40836	0.997000	0.53966	0.993000	0.82548	0.250000	0.18235	-0.107000	0.12088	0.533000	0.62120	GAA	0	NULL		0.498	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF20	protein_coding	OTTHUMT00000320531.1	53	239	0	0.00	0	0	T	NM_181492	0	0		42608141	-1	no_errors	ENST00000359486	ensembl	human	known	74_37	missense	30	164	40	41.07	20	115	SNP	0.995	G
GET4	51608	genome.wustl.edu	37	7	935032	935034	+	In_Frame_Del	DEL	CGA	CGA	-	rs376218277|rs144524340		TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	CGA	CGA	CGA	-	CGA	CGA	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chr7:935032_935034delCGA	ENST00000265857.3	+	9	1051_1053	c.957_959delCGA	c.(955-960)agcgac>agc	p.D320del	GET4_ENST00000407192.1_In_Frame_Del_p.D267del	NM_015949.2	NP_057033.2	Q7L5D6	GET4_HUMAN	golgi to ER traffic protein 4 homolog (S. cerevisiae)	320					tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)				breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						AGAGCCCCAGCGACGGCAGCCCC	0.65																																							0											0																																										SO:0001651	inframe_deletion	0			AK023560	CCDS5317.1	7p22.3	2010-08-05	2010-03-24	2010-03-24	ENSG00000239857	ENSG00000239857			21690	protein-coding gene	gene with protein product	"""CGI-20 protein"", ""conserved edge protein"", ""transmembrane domain recognition complex, 35kDa"""	612056	"""chromosome 7 open reading frame 20"""	C7orf20		10810093, 20106980, 20676083	Standard	NM_015949		Approved	CGI-20, H_NH1244M04.5, CEE, TRC35	uc003sjl.1	Q7L5D6	OTTHUMG00000112459	ENST00000265857.3:c.957_959delCGA	7.37:g.935032_935034delCGA	ENSP00000265857:p.Asp320del		A4D2Q1|B3KNC7|Q9UFC9|Q9Y309	In_Frame_Del	DEL	pfam_UPF0363	p.D320in_frame_del	ENST00000265857.3	37	c.957_959	CCDS5317.1	7																																																																																			0	NULL		0.650	GET4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GET4	protein_coding	OTTHUMT00000231930.1	55	53	0	0.00	0	0	CGA	NM_015949	0	0		935034	1	no_errors	ENST00000265857	ensembl	human	known	74_37	in_frame_del	33	29	15.38	39.58	6	19	DEL	1.000:1.000:1.000	0
RHOBTB1	9886	genome.wustl.edu	37	10	62648684	62648690	+	Frame_Shift_Del	DEL	ACTCTGG	ACTCTGG	-	rs202064331|rs148015761		TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	ACTCTGG	ACTCTGG	ACTCTGG	-	ACTCTGG	ACTCTGG	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chr10:62648684_62648690delACTCTGG	ENST00000337910.5	-	6	1073_1079	c.736_742delCCAGAGT	c.(736-744)ccagagtgtfs	p.PEC246fs	RHOBTB1_ENST00000357917.4_Frame_Shift_Del_p.PEC246fs	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	246					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					ATGGAAGGACACTCTGGAATTTTGATG	0.483																																							0											0																																										SO:0001589	frameshift_variant	0			AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"""BTB/POZ domain containing"""	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.736_742delCCAGAGT	10.37:g.62648684_62648690delACTCTGG	ENSP00000338671:p.Pro246fs			Frame_Shift_Del	DEL	pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase	p.P246fs	ENST00000337910.5	37	c.742_736	CCDS7261.1	10																																																																																			0	superfamily_BTB/POZ_fold		0.483	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOBTB1	protein_coding	OTTHUMT00000048220.1	74	234	0	0.00	0	0	ACTCTGG		0	0		62648690	-1	no_errors	ENST00000337910	ensembl	human	known	74_37	frame_shift_del	38	154	24	12.00	12	21	DEL	1.000:0.927:0.995:0.995:0.936:1.000:1.000	0
GOLGA8T	653075	genome.wustl.edu	37	15	30433056	30433056	+	Silent	SNP	C	C	T			TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chr15:30433056C>T	ENST00000569052.1	+	9	603	c.603C>T	c.(601-603)cgC>cgT	p.R201R	RN7SL469P_ENST00000491512.2_RNA					golgin A8 family, member T																		TGTCCAGCCGCAGCAAAGCAC	0.522																																							0											0																																										SO:0001819	synonymous_variant	0					15q13.2	2013-01-17			ENSG00000261247	ENSG00000261247			44410	other	unknown							Standard	NR_033933		Approved		uc021sha.1		OTTHUMG00000175638	ENST00000569052.1:c.603C>T	15.37:g.30433056C>T				Silent	SNP	NULL	p.R201	ENST00000569052.1	37	c.603		15																																																																																			0	NULL		0.522	GOLGA8T-001	NOVEL	basic|appris_principal	protein_coding	GOLGA8T	protein_coding	OTTHUMT00000430690.1	141	0	0	0.00	0	0	C	NR_033933	0	0		30433056	1	no_errors	ENST00000569052	ensembl	human	novel	74_37	silent	50	0	41.86	0.00	36	0	SNP	0	T
DNM1P47	100216544	genome.wustl.edu	37	15	102294648	102294648	+	RNA	SNP	T	T	C			TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chr15:102294648T>C	ENST00000561463.1	+	0	2694									DNM1 pseudogene 47																		TTCTCAGAGCTGCTGTCCAAC	0.587																																							0											0																																												0			AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102294648T>C				RNA	SNP	0	NULL	ENST00000561463.1	37	NULL		15																																																																																			0	0		0.587	DNM1P47-001	KNOWN	basic	processed_transcript	DNM1P47	pseudogene	OTTHUMT00000417589.1	56	12	0	0.00	0	0	T	NG_009149	0	0		102294648	1	no_errors	ENST00000561463	ensembl	human	known	74_37	rna	57	8	13.64	0.00	9	0	SNP	0.999	C
DNM1P47	100216544	genome.wustl.edu	37	15	102294651	102294651	+	RNA	SNP	T	T	G			TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chr15:102294651T>G	ENST00000561463.1	+	0	2697									DNM1 pseudogene 47																		TCAGAGCTGCTGTCCAACCTG	0.587																																							0											0																																												0			AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102294651T>G				RNA	SNP	0	NULL	ENST00000561463.1	37	NULL		15																																																																																			0	0		0.587	DNM1P47-001	KNOWN	basic	processed_transcript	DNM1P47	pseudogene	OTTHUMT00000417589.1	54	12	0	0.00	0	0	T	NG_009149	0	0		102294651	1	no_errors	ENST00000561463	ensembl	human	known	74_37	rna	57	8	13.64	0.00	9	0	SNP	0.999	G
ZNF91	7644	genome.wustl.edu	37	19	23544831	23544831	+	Missense_Mutation	SNP	G	G	T			TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chr19:23544831G>T	ENST00000300619.7	-	4	1155	c.950C>A	c.(949-951)aCt>aAt	p.T317N	ZNF91_ENST00000397082.2_Missense_Mutation_p.T285N|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	317					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TTTCTCTCCAGTATGAATTCT	0.398																																							0											0													67.0	71.0	69.0					19																	23544831		2146	4275	6421	SO:0001583	missense	0			M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.950C>A	19.37:g.23544831G>T	ENSP00000300619:p.Thr317Asn		A8K5E1|B7Z6G6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T317N	ENST00000300619.7	37	c.950	CCDS42541.1	19	.	.	.	.	.	.	.	.	.	.	G	8.678	0.904473	0.17760	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.26067	1.76;1.76	1.97	0.462	0.16695	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22126	0.0533	N	0.04373	-0.215	0.26334	N	0.977476	B;D	0.53312	0.42;0.959	B;P	0.58620	0.078;0.842	T	0.28808	-1.0032	9	0.87932	D	0	.	10.0483	0.42199	0.0:0.3634:0.6366:0.0	.	285;317	Q05481-2;Q05481	.;ZNF91_HUMAN	N	317;285	ENSP00000300619:T317N;ENSP00000380272:T285N	ENSP00000300619:T317N	T	-	2	0	ZNF91	23336671	0.993000	0.37304	0.000000	0.03702	0.010000	0.07245	2.155000	0.42301	0.097000	0.17492	0.162000	0.16502	ACT	0	pfscan_Znf_C2H2		0.398	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF91	protein_coding	OTTHUMT00000465891.1	88	4	0	0.00	0	0	G	NM_003430	0	0		23544831	-1	no_errors	ENST00000300619	ensembl	human	known	74_37	missense	47	4	7.84	0.00	4	0	SNP	0.952	T
DSPP	1834	genome.wustl.edu	37	4	88537109	88537117	+	In_Frame_Del	DEL	AGCAGCGAC	AGCAGCGAC	-	rs369973717|rs201186956|rs199799532	byFrequency	TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	AGCAGCGAC	AGCAGCGAC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chr4:88537109_88537117delAGCAGCGAC	ENST00000282478.7	+	4	3328_3336	c.3295_3303delAGCAGCGAC	c.(3295-3303)agcagcgacdel	p.SSD1117del	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_In_Frame_Del_p.SSD1117del			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1117	Asp/Ser-rich.			Missing (in Ref. 1; AAF42472 and 3; AAD16120). {ECO:0000305}.	biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		cagcagcgatagcagcgacagcagcgaca	0.541																																							0											0																																										SO:0001651	inframe_deletion	0			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3295_3303delAGCAGCGAC	4.37:g.88537118_88537126delAGCAGCGAC	ENSP00000282478:p.Ser1117_Asp1119del		A8MUI0|O95815	In_Frame_Del	DEL	NULL	p.SSD1102in_frame_del	ENST00000282478.7	37	c.3295_3303	CCDS43248.1	4																																																																																			0	NULL		0.541	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DSPP	protein_coding	OTTHUMT00000363616.3	12	1	0	0.00	0	0	AGCAGCGAC	NM_014208	0	0		88537117	1	no_errors	ENST00000282478	ensembl	human	known	74_37	in_frame_del	9	1	30.77	0.00	4	0	DEL	0.865:0.905:0.920:0.917:0.890:0.802:0.835:0.850:0.862	0
