#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ABCA13	154664	genome.wustl.edu	37	7	48318080	48318080	+	Missense_Mutation	SNP	T	T	C			TCGA-A7-A26G-01A-21D-A167-09	TCGA-A7-A26G-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	36d1a85e-a09b-4537-86e0-eaf1eb03aed8	5f0452c9-2310-4118-b895-cf8aa79f1ccf	g.chr7:48318080T>C	ENST00000435803.1	+	18	7313	c.7289T>C	c.(7288-7290)aTt>aCt	p.I2430T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2430					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTGGATACAATTTTACACTCT	0.363																																						dbGAP											0													91.0	89.0	89.0					7																	48318080		1843	4091	5934	-	-	-	SO:0001583	missense	0			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.7289T>C	7.37:g.48318080T>C	ENSP00000411096:p.Ile2430Thr		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.I2430T	ENST00000435803.1	37	c.7289	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	T	10.43	1.347023	0.24426	.	.	ENSG00000179869	ENST00000435803	T	0.55413	0.52	5.12	3.97	0.46021	.	0.815064	0.10196	N	0.704067	T	0.36468	0.0968	N	0.24115	0.695	0.09310	N	0.999994	B	0.33694	0.421	B	0.27500	0.08	T	0.25187	-1.0139	10	0.87932	D	0	.	7.7631	0.28963	0.0:0.0954:0.0:0.9046	.	2430	Q86UQ4	ABCAD_HUMAN	T	2430	ENSP00000411096:I2430T	ENSP00000411096:I2430T	I	+	2	0	ABCA13	48288626	0.055000	0.20627	0.003000	0.11579	0.001000	0.01503	3.631000	0.54280	0.805000	0.34159	-0.290000	0.09829	ATT	ABCA13	-	NULL	ENSG00000179869		0.363	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	39	0.00	0	T	NM_152701		48318080	48318080	+1	no_errors	ENST00000435803	ensembl	human	known	69_37n	missense	63	13.70	10	SNP	0.004	C
ACSF3	197322	genome.wustl.edu	37	16	89220512	89220512	+	Missense_Mutation	SNP	C	C	G			TCGA-A7-A26G-01A-21D-A167-09	TCGA-A7-A26G-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	36d1a85e-a09b-4537-86e0-eaf1eb03aed8	5f0452c9-2310-4118-b895-cf8aa79f1ccf	g.chr16:89220512C>G	ENST00000317447.4	+	11	2005	c.1628C>G	c.(1627-1629)cCg>cGg	p.P543R	ACSF3_ENST00000537116.1_3'UTR|ACSF3_ENST00000378345.4_Missense_Mutation_p.P278R|ACSF3_ENST00000406948.3_Missense_Mutation_p.P543R	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	543					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|malonate catabolic process (GO:0090410)	mitochondrion (GO:0005739)	acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)|malonyl-CoA synthetase activity (GO:0090409)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		GTCCTGGCCCCGTACGCGGTG	0.632																																						dbGAP											0													77.0	62.0	67.0					16																	89220512		2198	4300	6498	-	-	-	SO:0001583	missense	0			AK075499	CCDS10974.1, CCDS73926.1	16q24.3	2013-01-15			ENSG00000176715	ENSG00000176715		"""Acyl-CoA synthetase family"""	27288	protein-coding gene	gene with protein product	"""malonyl-CoA synthetase"""	614245				17762044, 21846720	Standard	XM_005256293		Approved		uc010cig.2	Q4G176	OTTHUMG00000138044	ENST00000317447.4:c.1628C>G	16.37:g.89220512C>G	ENSP00000320646:p.Pro543Arg		A8K4J8|C9JQL6|Q6INA0|Q8N2F7	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.P543R	ENST00000317447.4	37	c.1628	CCDS10974.1	16	.	.	.	.	.	.	.	.	.	.	c	4.956	0.177605	0.09443	.	.	ENSG00000176715	ENST00000317447;ENST00000406948;ENST00000378345	T;T;T	0.59364	0.27;0.27;0.27	3.52	3.52	0.40303	.	0.315898	0.29342	U	0.012421	T	0.32704	0.0838	N	0.04669	-0.19	0.46131	D	0.998887	B	0.24426	0.103	B	0.25759	0.063	T	0.17653	-1.0362	10	0.08381	T	0.77	-26.8213	15.2427	0.73482	0.0:1.0:0.0:0.0	.	543	Q4G176	ACSF3_HUMAN	R	543;543;278	ENSP00000320646:P543R;ENSP00000384627:P543R;ENSP00000367596:P278R	ENSP00000320646:P543R	P	+	2	0	ACSF3	87748013	0.230000	0.23740	0.844000	0.33320	0.009000	0.06853	3.470000	0.53100	1.974000	0.57490	0.479000	0.44913	CCG	ACSF3	-	NULL	ENSG00000176715		0.632	ACSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSF3	HGNC	protein_coding	OTTHUMT00000269919.1	22	0.00	0	C	NM_174917		89220512	89220512	+1	no_errors	ENST00000317447	ensembl	human	known	69_37n	missense	27	27.03	10	SNP	0.973	G
AHNAK	79026	genome.wustl.edu	37	11	62300539	62300539	+	Silent	SNP	C	C	A			TCGA-A7-A26G-01A-21D-A167-09	TCGA-A7-A26G-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	36d1a85e-a09b-4537-86e0-eaf1eb03aed8	5f0452c9-2310-4118-b895-cf8aa79f1ccf	g.chr11:62300539C>A	ENST00000378024.4	-	5	1624	c.1350G>T	c.(1348-1350)ggG>ggT	p.G450G	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	450					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCACATCAATCCCAGTTTCCT	0.527																																						dbGAP											0													114.0	118.0	116.0					11																	62300539		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.1350G>T	11.37:g.62300539C>A			A1A586	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G450	ENST00000378024.4	37	c.1350	CCDS31584.1	11																																																																																			AHNAK	-	NULL	ENSG00000124942		0.527	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	58	0.00	0	C	NM_024060		62300539	62300539	-1	no_errors	ENST00000378024	ensembl	human	known	69_37n	silent	79	24.04	25	SNP	0.000	A
ARL6IP5	10550	genome.wustl.edu	37	3	69134375	69134376	+	Splice_Site	INS	-	-	T			TCGA-A7-A26G-01A-21D-A167-09	TCGA-A7-A26G-10A-01D-A167-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	36d1a85e-a09b-4537-86e0-eaf1eb03aed8	5f0452c9-2310-4118-b895-cf8aa79f1ccf	g.chr3:69134375_69134376insT	ENST00000273258.3	+	1	280		c.e1+1		ARL6IP5_ENST00000478935.1_Splice_Site	NM_006407.3	NP_006398.1	O75915	PRAF3_HUMAN	ADP-ribosylation factor-like 6 interacting protein 5						intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|L-glutamate transport (GO:0015813)|negative regulation of mitochondrial membrane potential (GO:0010917)|negative regulation of transport (GO:0051051)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of stress-activated MAPK cascade (GO:0032874)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				biliary_tract(1)|endometrium(1)|large_intestine(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.78e-05)|Epithelial(33;0.000818)|LUSC - Lung squamous cell carcinoma(21;0.0118)|Lung(16;0.0189)|KIRC - Kidney renal clear cell carcinoma(39;0.203)|Kidney(39;0.238)		CCATTGTGGGGTAAGTGGGGTC	0.589																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0			AF070523	CCDS2912.1	3p14	2014-05-12	2014-05-12		ENSG00000144746	ENSG00000144746			16937	protein-coding gene	gene with protein product	"""PRA1 domain family 3"""	605709				11242046, 11042152	Standard	NM_006407		Approved	PRAF3, JWA, GTRAP3-18, DERP11, HSPC127	uc003dnr.3	O75915	OTTHUMG00000158773	ENST00000273258.3:c.176+1->T	3.37:g.69134376_69134376dupT			B2R6V5|Q53ES3|Q5KU08	Splice_Site	INS	-	e1+1	ENST00000273258.3	37	c.176+1_176+1	CCDS2912.1	3																																																																																			ARL6IP5	-	-	ENSG00000144746		0.589	ARL6IP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL6IP5	HGNC	protein_coding	OTTHUMT00000352132.1	28	0.00	0	-	NM_006407	Intron	69134375	69134376	+1	no_errors	ENST00000273258	ensembl	human	known	69_37n	splice_site_ins	23	17.86	5	INS	1.000:1.000	T
ASNS	440	genome.wustl.edu	37	7	97498300	97498300	+	Missense_Mutation	SNP	A	A	G			TCGA-A7-A26G-01A-21D-A167-09	TCGA-A7-A26G-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	36d1a85e-a09b-4537-86e0-eaf1eb03aed8	5f0452c9-2310-4118-b895-cf8aa79f1ccf	g.chr7:97498300A>G	ENST00000394309.3	-	3	640	c.169T>C	c.(169-171)Ttt>Ctt	p.F57L	ASNS_ENST00000455086.1_Intron|ASNS_ENST00000444334.1_Missense_Mutation_p.F36L|ASNS_ENST00000422745.1_Missense_Mutation_p.F36L|ASNS_ENST00000394308.3_Missense_Mutation_p.F57L|ASNS_ENST00000437628.1_Intron|ASNS_ENST00000175506.4_Missense_Mutation_p.F57L	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	57	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|asparagine biosynthetic process (GO:0006529)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular protein metabolic process (GO:0044267)|cellular response to glucose starvation (GO:0042149)|cellular response to hormone stimulus (GO:0032870)|endoplasmic reticulum unfolded protein response (GO:0030968)|glutamine metabolic process (GO:0006541)|L-asparagine biosynthetic process (GO:0070981)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|positive regulation of mitotic cell cycle (GO:0045931)|response to amino acid (GO:0043200)|response to follicle-stimulating hormone (GO:0032354)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)|ATP binding (GO:0005524)|cofactor binding (GO:0048037)			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TGCATTCCAAACAGCGGGTCA	0.448																																					Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)	dbGAP											0													84.0	74.0	77.0					7																	97498300		2203	4300	6503	-	-	-	SO:0001583	missense	0			M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	6.3.5.4		753	protein-coding gene	gene with protein product		108370	"""asparagine synthetase"""				Standard	NM_001673		Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000394309.3:c.169T>C	7.37:g.97498300A>G	ENSP00000377846:p.Phe57Leu		A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0	Missense_Mutation	SNP	pfam_Asn_synthase,pfam_GATase_dom,tigrfam_Asn_synth_AEB	p.F57L	ENST00000394309.3	37	c.169	CCDS5652.1	7	.	.	.	.	.	.	.	.	.	.	A	11.88	1.769887	0.31320	.	.	ENSG00000070669	ENST00000175506;ENST00000394309;ENST00000394308;ENST00000422745;ENST00000444334;ENST00000442734;ENST00000437657;ENST00000448127;ENST00000453600	T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.04	3.77	3.77	0.43336	Glutamine amidotransferase, type II (1);	0.123114	0.56097	D	0.000025	T	0.19685	0.0473	N	0.02539	-0.55	0.32980	D	0.523499	B	0.19445	0.036	B	0.24701	0.055	T	0.17592	-1.0364	10	0.44086	T	0.13	-19.1993	10.7845	0.46397	1.0:0.0:0.0:0.0	.	57	P08243	ASNS_HUMAN	L	57;57;57;36;36;57;57;57;36	ENSP00000175506:F57L;ENSP00000377846:F57L;ENSP00000377845:F57L;ENSP00000414901:F36L;ENSP00000406994:F36L;ENSP00000400422:F57L	ENSP00000175506:F57L	F	-	1	0	ASNS	97336236	1.000000	0.71417	0.999000	0.59377	0.795000	0.44927	5.417000	0.66423	1.723000	0.51488	0.454000	0.30748	TTT	ASNS	-	tigrfam_Asn_synth_AEB	ENSG00000070669		0.448	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ASNS	HGNC	protein_coding	OTTHUMT00000333645.1	65	0.00	0	A	NM_001673, NM_183356		97498300	97498300	-1	no_errors	ENST00000175506	ensembl	human	known	69_37n	missense	40	21.57	11	SNP	1.000	G
C9orf142	286257	genome.wustl.edu	37	9	139887830	139887830	+	Missense_Mutation	SNP	C	C	A			TCGA-A7-A26G-01A-21D-A167-09	TCGA-A7-A26G-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	36d1a85e-a09b-4537-86e0-eaf1eb03aed8	5f0452c9-2310-4118-b895-cf8aa79f1ccf	g.chr9:139887830C>A	ENST00000371620.3	+	5	483	c.457C>A	c.(457-459)Ccc>Acc	p.P153T	C9orf142_ENST00000493968.1_3'UTR|CLIC3_ENST00000480181.1_5'Flank	NM_183241.1	NP_899064.1	Q9BUH6	CI142_HUMAN	chromosome 9 open reading frame 142	153						extracellular vesicular exosome (GO:0070062)						all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GAGGAAGAGCCCCCGGCCTGC	0.617																																						dbGAP											0													22.0	24.0	23.0					9																	139887830		2200	4296	6496	-	-	-	SO:0001583	missense	0			BC002613	CCDS7020.1	9q34.3	2008-02-05			ENSG00000148362	ENSG00000148362			27849	protein-coding gene	gene with protein product							Standard	NM_183241		Approved		uc004cki.3	Q9BUH6	OTTHUMG00000020971	ENST00000371620.3:c.457C>A	9.37:g.139887830C>A	ENSP00000360682:p.Pro153Thr		Q8IY19	Missense_Mutation	SNP	NULL	p.P153T	ENST00000371620.3	37	c.457	CCDS7020.1	9	.	.	.	.	.	.	.	.	.	.	C	0.234	-1.018650	0.02078	.	.	ENSG00000148362	ENST00000371620	.	.	.	4.55	-7.74	0.01241	.	0.667620	0.13809	N	0.361258	T	0.13713	0.0332	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25293	-1.0136	9	0.16896	T	0.51	-1.3103	0.4501	0.00500	0.2077:0.2441:0.1959:0.3522	.	153	Q9BUH6	CI142_HUMAN	T	153	.	ENSP00000360682:P153T	P	+	1	0	C9orf142	139007651	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-1.102000	0.03332	-1.728000	0.01366	-0.424000	0.05967	CCC	C9orf142	-	NULL	ENSG00000148362		0.617	C9orf142-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf142	HGNC	protein_coding	OTTHUMT00000055255.1	18	0.00	0	C	NM_183241		139887830	139887830	+1	no_errors	ENST00000371620	ensembl	human	known	69_37n	missense	9	52.63	10	SNP	0.000	A
CDK12	51755	genome.wustl.edu	37	17	37666015	37666016	+	Splice_Site	INS	-	-	T			TCGA-A7-A26G-01A-21D-A167-09	TCGA-A7-A26G-10A-01D-A167-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	36d1a85e-a09b-4537-86e0-eaf1eb03aed8	5f0452c9-2310-4118-b895-cf8aa79f1ccf	g.chr17:37666015_37666016insT	ENST00000447079.4	+	7	2699		c.e7+1		CDK12_ENST00000430627.2_Splice_Site	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12						mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CTGAAGAGAGGTAAGGCATTAA	0.376			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												dbGAP		Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0																																										-	-	-	SO:0001630	splice_region_variant	0			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.2666+1->T	17.37:g.37666016_37666016dupT			A7E2B2|B4DYX4|B9EIQ6|O94978	Splice_Site	INS	-	e7+1	ENST00000447079.4	37	c.2666+1_2666+1	CCDS11337.1	17																																																																																			CDK12	-	-	ENSG00000167258		0.376	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK12	HGNC	protein_coding	OTTHUMT00000256941.4	90	0.00	0	-	NM_016507	Intron	37666015	37666016	+1	no_errors	ENST00000447079	ensembl	human	known	69_37n	splice_site_ins	69	19.77	17	INS	1.000:1.000	T
CNTNAP5	129684	genome.wustl.edu	37	2	125530458	125530458	+	Missense_Mutation	SNP	C	C	A			TCGA-A7-A26G-01A-21D-A167-09	TCGA-A7-A26G-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	36d1a85e-a09b-4537-86e0-eaf1eb03aed8	5f0452c9-2310-4118-b895-cf8aa79f1ccf	g.chr2:125530458C>A	ENST00000431078.1	+	17	2977	c.2613C>A	c.(2611-2613)gaC>gaA	p.D871E		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	871	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TTCTGAATGACAACCAATGGC	0.547																																						dbGAP											0													178.0	168.0	171.0					2																	125530458		1941	4138	6079	-	-	-	SO:0001583	missense	0			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2613C>A	2.37:g.125530458C>A	ENSP00000399013:p.Asp871Glu		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.D871E	ENST00000431078.1	37	c.2613	CCDS46401.1	2	.	.	.	.	.	.	.	.	.	.	c	24.0	4.478312	0.84747	.	.	ENSG00000155052	ENST00000431078	D	0.86297	-2.1	5.63	4.76	0.60689	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.49916	D	0.000137	D	0.95825	0.8641	H	0.98901	4.365	0.54753	D	0.999981	D	0.89917	1.0	D	0.87578	0.998	D	0.95794	0.8827	10	0.87932	D	0	.	9.7092	0.40233	0.0:0.8439:0.0:0.1561	.	871	Q8WYK1	CNTP5_HUMAN	E	871	ENSP00000399013:D871E	ENSP00000399013:D871E	D	+	3	2	CNTNAP5	125246928	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.630000	0.46494	1.393000	0.46605	0.645000	0.84053	GAC	CNTNAP5	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000155052		0.547	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3	89	0.00	0	C			125530458	125530458	+1	no_errors	ENST00000431078	ensembl	human	known	69_37n	missense	80	17.53	17	SNP	1.000	A
COL25A1	84570	genome.wustl.edu	37	4	109817822	109817822	+	Splice_Site	SNP	C	C	G			TCGA-A7-A26G-01A-21D-A167-09	TCGA-A7-A26G-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	36d1a85e-a09b-4537-86e0-eaf1eb03aed8	5f0452c9-2310-4118-b895-cf8aa79f1ccf	g.chr4:109817822C>G	ENST00000399132.1	-	16	1437		c.e16+1		COL25A1_ENST00000399126.1_Splice_Site|COL25A1_ENST00000399127.1_Splice_Site	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CAAAACTGTACCTTTTCGCCT	0.433																																						dbGAP											0													133.0	127.0	129.0					4																	109817822		1893	4115	6008	-	-	-	SO:0001630	splice_region_variant	0			AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.906+1G>C	4.37:g.109817822C>G				Splice_Site	SNP	-	e15+1	ENST00000399132.1	37	c.906+1	CCDS43258.1	4	.	.	.	.	.	.	.	.	.	.	C	15.73	2.920081	0.52653	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126;ENST00000443653	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4121	0.83722	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL25A1	110037271	1.000000	0.71417	1.000000	0.80357	0.462000	0.32619	4.457000	0.60088	2.723000	0.93209	0.655000	0.94253	.	COL25A1	-	-	ENSG00000188517		0.433	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL25A1	HGNC	protein_coding	OTTHUMT00000315938.2	57	0.00	0	C	NM_032518	Intron	109817822	109817822	-1	no_errors	ENST00000399132	ensembl	human	known	69_37n	splice_site	64	15.79	12	SNP	1.000	G
CROCCP2	84809	genome.wustl.edu	37	1	16944945	16944945	+	lincRNA	SNP	G	G	A	rs56332857	byFrequency	TCGA-A7-A26G-01A-21D-A167-09	TCGA-A7-A26G-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	36d1a85e-a09b-4537-86e0-eaf1eb03aed8	5f0452c9-2310-4118-b895-cf8aa79f1ccf	g.chr1:16944945G>A	ENST00000412962.1	-	0	2574				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CATTAAACGTGTATACATTCA	0.408													.|||	782	0.15615	0.171	0.1916	5008	,	,		67495	0.0526		0.1332	False		,,,				2504	0.2413					dbGAP											0																																										-	-	-			0			AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16944945G>A			Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	-	NULL	ENST00000412962.1	37	NULL		1																																																																																			CROCCP2	-	-	ENSG00000215908		0.408	CROCCP2-003	KNOWN	basic	lincRNA	CROCCP2	HGNC	lincRNA	OTTHUMT00000092784.1	11	0.00	0	G	NR_026752.1		16944945	16944945	-1	no_errors	ENST00000412962	ensembl	human	known	69_37n	rna	8	33.33	4	SNP	0.003	A
CROCCP2	84809	genome.wustl.edu	37	1	16949959	16949959	+	lincRNA	SNP	G	G	A	rs539437809	byFrequency	TCGA-A7-A26G-01A-21D-A167-09	TCGA-A7-A26G-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	36d1a85e-a09b-4537-86e0-eaf1eb03aed8	5f0452c9-2310-4118-b895-cf8aa79f1ccf	g.chr1:16949959G>A	ENST00000412962.1	-	0	1000							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											TCAGAGATTCGATGGGGAACG	0.483													.|||	336	0.0670927	0.0484	0.0879	5008	,	,		85264	0.0446		0.0517	False		,,,				2504	0.1166					dbGAP											0																																										-	-	-			0			AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16949959G>A			Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	-	NULL	ENST00000412962.1	37	NULL		1																																																																																			CROCCP2	-	-	ENSG00000215908		0.483	CROCCP2-003	KNOWN	basic	lincRNA	CROCCP2	HGNC	lincRNA	OTTHUMT00000092784.1	9	0.00	0	G	NR_026752.1		16949959	16949959	-1	no_errors	ENST00000421700	ensembl	human	known	69_37n	rna	5	44.44	4	SNP	0.001	A
DISC1	27185	genome.wustl.edu	37	1	231830117	231830117	+	Missense_Mutation	SNP	G	G	T			TCGA-A7-A26G-01A-21D-A167-09	TCGA-A7-A26G-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	36d1a85e-a09b-4537-86e0-eaf1eb03aed8	5f0452c9-2310-4118-b895-cf8aa79f1ccf	g.chr1:231830117G>T	ENST00000602281.1	+	2	666	c.613G>T	c.(613-615)Gcc>Tcc	p.A205S	DISC1_ENST00000535983.1_Missense_Mutation_p.A205S|DISC1_ENST00000537876.1_Missense_Mutation_p.A205S|DISC1_ENST00000439617.2_Missense_Mutation_p.A205S|DISC1_ENST00000539444.1_Missense_Mutation_p.A205S|DISC1_ENST00000366633.3_Missense_Mutation_p.A205S|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000317586.4_Missense_Mutation_p.A205S|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000366636.4_Missense_Mutation_p.A205S|TSNAX-DISC1_ENST00000602962.1_3'UTR	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	205	Interaction with MAP1A.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)		p.A205T(3)		breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				CTCTCACAGTGCCTTTACCTC	0.612																																						dbGAP											3	Substitution - Missense(3)	lung(3)											60.0	58.0	59.0					1																	231830117		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000602281.1:c.613G>T	1.37:g.231830117G>T	ENSP00000473425:p.Ala205Ser		A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Missense_Mutation	SNP	superfamily_Prefoldin	p.A205S	ENST00000602281.1	37	c.613	CCDS59205.1	1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.088215	0.36855	.	.	ENSG00000162946	ENST00000439617;ENST00000366637;ENST00000317586;ENST00000366636;ENST00000366638;ENST00000532576;ENST00000535983;ENST00000537876;ENST00000366633;ENST00000539444;ENST00000295051;ENST00000535944;ENST00000366632	T;T;T;T;T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78;1.78;1.78;1.78;1.78	4.61	1.08	0.20341	.	1.368040	0.04190	N	0.328152	T	0.19005	0.0456	L	0.34521	1.04	0.09310	N	1	B;P;B;P;P;B;P;P;P;P;B;P;P;P;B;P;P;B;P;P;B	0.48294	0.009;0.908;0.264;0.655;0.908;0.417;0.908;0.908;0.908;0.908;0.058;0.885;0.794;0.908;0.112;0.775;0.885;0.112;0.775;0.908;0.058	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.43916	0.009;0.436;0.09;0.269;0.306;0.055;0.436;0.436;0.306;0.436;0.038;0.31;0.31;0.436;0.079;0.306;0.31;0.079;0.306;0.436;0.023	T	0.12656	-1.0539	10	0.11182	T	0.66	0.5075	2.8995	0.05701	0.3954:0.0:0.4063:0.1982	.	205;205;205;205;205;205;205;205;205;205;205;205;205;205;205;205;205;205;205;205;205	C4P094;C4P0A3;C4P098;C4P0A1;C4P0A4;A6NLH2;C4P0A5;C4P095;C4P0B6;C4P0C4;C4P091;C4P0D2;C4P0D3;C4P0B1;A7E2W8;Q5T409;C4P0D0;Q9NRI5-2;Q9NRI5;Q9NRI5-3;Q9NRI5-4	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;DISC1_HUMAN;.;.	S	205;205;205;205;205;205;205;205;205;205;205;205;56	ENSP00000403888:A205S;ENSP00000320784:A205S;ENSP00000355596:A205S;ENSP00000443996:A205S;ENSP00000440909:A205S;ENSP00000355593:A205S;ENSP00000440953:A205S;ENSP00000295051:A205S;ENSP00000441193:A205S	ENSP00000295051:A205S	A	+	1	0	DISC1	229896740	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.785000	0.04628	0.021000	0.15133	0.561000	0.74099	GCC	DISC1	-	NULL	ENSG00000162946		0.612	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	DISC1	HGNC	protein_coding	OTTHUMT00000467451.1	21	0.00	0	G	NM_018662		231830117	231830117	+1	no_errors	ENST00000439617	ensembl	human	known	69_37n	missense	20	16.67	4	SNP	0.000	T
DNAH5	1767	genome.wustl.edu	37	5	13901544	13901544	+	Silent	SNP	G	G	A			TCGA-A7-A26G-01A-21D-A167-09	TCGA-A7-A26G-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	36d1a85e-a09b-4537-86e0-eaf1eb03aed8	5f0452c9-2310-4118-b895-cf8aa79f1ccf	g.chr5:13901544G>A	ENST00000265104.4	-	14	1973	c.1869C>T	c.(1867-1869)atC>atT	p.I623I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	623	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTTTCCAGCGATGGGAGGCT	0.502									Kartagener syndrome																													dbGAP											0													58.0	56.0	57.0					5																	13901544		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.1869C>T	5.37:g.13901544G>A			Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.I623	ENST00000265104.4	37	c.1869	CCDS3882.1	5																																																																																			DNAH5	-	pfam_Dynein_heavy_dom-1	ENSG00000039139		0.502	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	56	0.00	0	G	NM_001369		13901544	13901544	-1	no_errors	ENST00000265104	ensembl	human	known	69_37n	silent	37	21.28	10	SNP	0.884	A
EPHB3	2049	genome.wustl.edu	37	3	184298863	184298863	+	Missense_Mutation	SNP	T	T	A			TCGA-A7-A26G-01A-21D-A167-09	TCGA-A7-A26G-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	36d1a85e-a09b-4537-86e0-eaf1eb03aed8	5f0452c9-2310-4118-b895-cf8aa79f1ccf	g.chr3:184298863T>A	ENST00000330394.2	+	14	3094	c.2642T>A	c.(2641-2643)cTc>cAc	p.L881H	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	881	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GACCGGAACCTCAGGCCCAAA	0.582																																						dbGAP											0													77.0	84.0	81.0					3																	184298863		2203	4300	6503	-	-	-	SO:0001583	missense	0			X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.2642T>A	3.37:g.184298863T>A	ENSP00000332118:p.Leu881His		Q7Z740	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.L881H	ENST00000330394.2	37	c.2642	CCDS3268.1	3	.	.	.	.	.	.	.	.	.	.	T	14.51	2.557506	0.45590	.	.	ENSG00000182580	ENST00000330394	D	0.82344	-1.6	3.99	3.99	0.46301	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.79522	0.4460	N	0.08118	0	0.58432	D	0.999999	D	0.89917	1.0	D	0.75020	0.985	T	0.76710	-0.2859	10	0.20046	T	0.44	.	12.786	0.57504	0.0:0.0:0.0:1.0	.	881	P54753	EPHB3_HUMAN	H	881	ENSP00000332118:L881H	ENSP00000332118:L881H	L	+	2	0	EPHB3	185781557	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.124000	0.57924	1.779000	0.52309	0.448000	0.29417	CTC	EPHB3	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000182580		0.582	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB3	HGNC	protein_coding	OTTHUMT00000345413.1	43	0.00	0	T	NM_004443		184298863	184298863	+1	no_errors	ENST00000330394	ensembl	human	known	69_37n	missense	36	21.74	10	SNP	1.000	A
EPS8L1	54869	genome.wustl.edu	37	19	55598981	55598981	+	Silent	SNP	G	G	A			TCGA-A7-A26G-01A-21D-A167-09	TCGA-A7-A26G-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	36d1a85e-a09b-4537-86e0-eaf1eb03aed8	5f0452c9-2310-4118-b895-cf8aa79f1ccf	g.chr19:55598981G>A	ENST00000201647.6	+	20	2227	c.2171G>A	c.(2170-2172)tGa>tAa	p.*724*	EPS8L1_ENST00000245618.5_Silent_p.*597*|EPS8L1_ENST00000586329.1_Silent_p.*549*|EPS8L1_ENST00000588359.1_Silent_p.*410*|EPS8L1_ENST00000540810.1_Silent_p.*660*	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	0					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|T cell receptor binding (GO:0042608)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GAGGTCATTTGACCTGCCAGG	0.572																																					Ovarian(149;255 1863 3636 27051 29647)	dbGAP											0													111.0	108.0	109.0					19																	55598981		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037			21295	protein-coding gene	gene with protein product		614987				12620401	Standard	NM_133180		Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.2171G>A	19.37:g.55598981G>A			Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Silent	SNP	pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTyr_interaction_dom,smart_SH3_domain,pfscan_SH3_domain	p.*724	ENST00000201647.6	37	c.2171	CCDS12914.1	19																																																																																			EPS8L1	-	NULL	ENSG00000131037		0.572	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPS8L1	HGNC	protein_coding	OTTHUMT00000451713.1	60	0.00	0	G	NM_017729		55598981	55598981	+1	no_errors	ENST00000201647	ensembl	human	known	69_37n	silent	41	14.58	7	SNP	1.000	A
FAM46D	169966	genome.wustl.edu	37	X	79699057	79699058	+	Missense_Mutation	DNP	CC	CC	AA	rs369436155		TCGA-A7-A26G-01A-21D-A167-09	TCGA-A7-A26G-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	36d1a85e-a09b-4537-86e0-eaf1eb03aed8	5f0452c9-2310-4118-b895-cf8aa79f1ccf	g.chrX:79699057_79699058CC>AA	ENST00000308293.5	+	3	1258_1259	c.1019_1020CC>AA	c.(1018-1020)cCC>cAA	p.P340Q	FAM46D_ENST00000538312.1_Missense_Mutation_p.P340Q	NM_152630.4	NP_689843.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	340										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						AATATTCTACCCAATACACAAA	0.426																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			BX537938	CCDS14446.1	Xq21.1	2009-08-18			ENSG00000174016	ENSG00000174016			28399	protein-coding gene	gene with protein product	"""cancer/testis antigen 112"""					12477932	Standard	NM_152630		Approved	MGC26999, CT1.26, CT112	uc004edl.1	Q8NEK8	OTTHUMG00000021902	Exception_encountered	X.37:g.79699057_79699058delinsAA	ENSP00000308575:p.Pro340Gln		B2R9Q6|Q7Z3F6|Q8NHU1	Missense_Mutation|Silent	SNP	pfam_DUF1693	p.P340H|p.P340	ENST00000308293.5	37	c.1019|c.1020	CCDS14446.1	X																																																																																			FAM46D	-	NULL	ENSG00000174016		0.426	FAM46D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM46D	HGNC	protein_coding	OTTHUMT00000057338.1	53	0.00	0	C	NM_152630		79699057|79699058	79699057|79699058	+1	no_errors	ENST00000308293	ensembl	human	known	69_37n	missense|silent	43	23.21	13	SNP	1.000|0.983	A
BRINP3	339479	genome.wustl.edu	37	1	190067488	190067488	+	Missense_Mutation	SNP	G	G	T			TCGA-A7-A26G-01A-21D-A167-09	TCGA-A7-A26G-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	36d1a85e-a09b-4537-86e0-eaf1eb03aed8	5f0452c9-2310-4118-b895-cf8aa79f1ccf	g.chr1:190067488G>T	ENST00000367462.3	-	8	2192	c.1961C>A	c.(1960-1962)cCt>cAt	p.P654H	BRINP3_ENST00000534846.1_Missense_Mutation_p.P552H	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	654					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											GTTCCGGGAAGGGTCAATAAA	0.433																																						dbGAP											0													121.0	126.0	124.0					1																	190067488		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1961C>A	1.37:g.190067488G>T	ENSP00000356432:p.Pro654His		B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.P654H	ENST00000367462.3	37	c.1961	CCDS1373.1	1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.825661	0.50739	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.19394	2.41;2.15	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.43322	0.1242	L	0.54323	1.7	0.58432	D	0.999993	D;D	0.89917	1.0;0.999	D;D	0.76071	0.987;0.936	T	0.12319	-1.0552	10	0.54805	T	0.06	.	17.2293	0.86980	0.0:0.0:1.0:0.0	.	552;654	B7Z260;Q76B58	.;FAM5C_HUMAN	H	654;552	ENSP00000356432:P654H;ENSP00000438022:P552H	ENSP00000356432:P654H	P	-	2	0	FAM5C	188334111	1.000000	0.71417	0.965000	0.40720	0.850000	0.48378	7.522000	0.81844	2.669000	0.90835	0.650000	0.86243	CCT	FAM5C	-	NULL	ENSG00000162670		0.433	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM5C	HGNC	protein_coding	OTTHUMT00000086278.1	56	0.00	0	G	NM_199051		190067488	190067488	-1	no_errors	ENST00000367462	ensembl	human	known	69_37n	missense	63	18.18	14	SNP	1.000	T
FBXW10	10517	genome.wustl.edu	37	17	18682505	18682505	+	Missense_Mutation	SNP	T	T	C	rs1024657	byFrequency	TCGA-A7-A26G-01A-21D-A167-09	TCGA-A7-A26G-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	36d1a85e-a09b-4537-86e0-eaf1eb03aed8	5f0452c9-2310-4118-b895-cf8aa79f1ccf	g.chr17:18682505T>C	ENST00000395665.4	+	14	3274	c.3053T>C	c.(3052-3054)gTc>gCc	p.V1018A	FBXW10_ENST00000308799.4_Missense_Mutation_p.V1027A|FBXW10_ENST00000301938.4_Missense_Mutation_p.V965A|TVP23B_ENST00000574226.1_5'Flank|TVP23B_ENST00000476139.1_5'Flank|TVP23B_ENST00000307767.8_5'Flank|FBXW10_ENST00000395667.1_Missense_Mutation_p.V1017A			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	1018								p.V1017A(1)		NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						CCAGGAAAAGTCAGCAAAGCT	0.488													N|||	744	0.148562	0.1846	0.2147	5008	,	,		13486	0.0903		0.2018	False		,,,				2504	0.0583					dbGAP											1	Substitution - Missense(1)	prostate(1)											42.0	40.0	41.0					17																	18682505		1906	3581	5487	-	-	-	SO:0001583	missense	0			BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1211	protein-coding gene	gene with protein product		611679	"""chromosome 17 open reading frame 1A"", ""F-box and WD-40 domain protein 10"""	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.3053T>C	17.37:g.18682505T>C	ENSP00000379025:p.Val1018Ala		C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V1027A	ENST00000395665.4	37	c.3080	CCDS11199.3	17	498	0.22802197802197802	92	0.18699186991869918	107	0.2955801104972376	65	0.11363636363636363	234	0.3087071240105541	C	0.015	-1.557317	0.00910	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84	3.38	2.36	0.29203	.	0.000000	0.31936	N	0.006834	T	0.00012	0.0000	N	0.00128	-2.045	0.58432	P	1.0000000000287557E-6	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.24693	-1.0153	9	0.02654	T	1	.	4.0906	0.09968	0.4063:0.4743:0.0:0.1194	.	965;1027;1018;1017	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	A	1017;1027;965;1018	ENSP00000379026:V1017A;ENSP00000310382:V1027A;ENSP00000306937:V965A;ENSP00000379025:V1018A	ENSP00000306937:V965A	V	+	2	0	FBXW10	18623230	0.407000	0.25352	0.286000	0.24833	0.737000	0.42083	0.661000	0.25023	0.116000	0.18110	-0.473000	0.04963	GTC	FBXW10	-	NULL	ENSG00000171931		0.488	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	FBXW10	HGNC	protein_coding	OTTHUMT00000313531.2	23	0.00	0	T	NM_031456		18682505	18682505	+1	no_errors	ENST00000308799	ensembl	human	known	69_37n	missense	13	27.78	5	SNP	0.825	C
FCGBP	8857	genome.wustl.edu	37	19	40399508	40399508	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A26G-01A-21D-A167-09	TCGA-A7-A26G-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	36d1a85e-a09b-4537-86e0-eaf1eb03aed8	5f0452c9-2310-4118-b895-cf8aa79f1ccf	g.chr19:40399508C>T	ENST00000221347.6	-	13	6194	c.6187G>A	c.(6187-6189)Ggc>Agc	p.G2063S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2063						extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGCTGGCAGCCGTGCTGGCCG	0.657																																						dbGAP											0													1.0	1.0	1.0					19																	40399508		183	426	609	-	-	-	SO:0001583	missense	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.6187G>A	19.37:g.40399508C>T	ENSP00000221347:p.Gly2063Ser		O95784	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_VWF_C,smart_VWC_out	p.G2063S	ENST00000221347.6	37	c.6187	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	C	14.27	2.485186	0.44147	.	.	ENSG00000090920	ENST00000221347	T	0.05025	3.51	3.01	3.01	0.34805	von Willebrand factor, type D domain (1);	.	.	.	.	T	0.20170	0.0485	M	0.77103	2.36	0.31064	N	0.713759	D	0.76494	0.999	D	0.66196	0.942	T	0.07868	-1.0750	9	0.14656	T	0.56	.	12.9123	0.58187	0.0:1.0:0.0:0.0	.	2063	Q9Y6R7	FCGBP_HUMAN	S	2063	ENSP00000221347:G2063S	ENSP00000221347:G2063S	G	-	1	0	FCGBP	45091348	0.935000	0.31712	0.871000	0.34182	0.831000	0.47069	-0.229000	0.09098	1.536000	0.49237	0.298000	0.19748	GGC	FCGBP	-	smart_VWC_out,smart_VWF_type-D	ENSG00000090920		0.657	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	25	0.00	0	C	NM_003890		40399508	40399508	-1	no_errors	ENST00000221347	ensembl	human	known	69_37n	missense	11	21.43	3	SNP	0.977	T
FLG2	388698	genome.wustl.edu	37	1	152327936	152327936	+	Missense_Mutation	SNP	C	C	A			TCGA-A7-A26G-01A-21D-A167-09	TCGA-A7-A26G-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	36d1a85e-a09b-4537-86e0-eaf1eb03aed8	5f0452c9-2310-4118-b895-cf8aa79f1ccf	g.chr1:152327936C>A	ENST00000388718.5	-	3	2398	c.2326G>T	c.(2326-2328)Ggc>Tgc	p.G776C	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	776	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACTTGAGCCAGAACTGTGT	0.512																																						dbGAP											0													359.0	298.0	319.0					1																	152327936		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2326G>T	1.37:g.152327936C>A	ENSP00000373370:p.Gly776Cys		Q9H4U1	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.G776C	ENST00000388718.5	37	c.2326	CCDS30861.1	1	.	.	.	.	.	.	.	.	.	.	C	7.860	0.725771	0.15439	.	.	ENSG00000143520	ENST00000388718	T	0.07021	3.23	3.77	0.709	0.18150	.	.	.	.	.	T	0.09468	0.0233	M	0.64997	1.995	0.09310	N	1	D	0.89917	1.0	D	0.65987	0.94	T	0.10870	-1.0611	9	0.66056	D	0.02	-2.7031	6.0954	0.20017	0.0:0.6291:0.0:0.3709	.	776	Q5D862	FILA2_HUMAN	C	776	ENSP00000373370:G776C	ENSP00000373370:G776C	G	-	1	0	FLG2	150594560	0.000000	0.05858	0.010000	0.14722	0.049000	0.14656	-1.407000	0.02488	0.138000	0.18790	0.430000	0.28490	GGC	FLG2	-	NULL	ENSG00000143520		0.512	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG2	HGNC	protein_coding	OTTHUMT00000034018.5	182	0.00	0	C	NM_001014342		152327936	152327936	-1	no_errors	ENST00000388718	ensembl	human	known	69_37n	missense	181	12.56	26	SNP	0.118	A
FLI1	2313	genome.wustl.edu	37	11	128680835	128680835	+	Silent	SNP	C	C	A			TCGA-A7-A26G-01A-21D-A167-09	TCGA-A7-A26G-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	36d1a85e-a09b-4537-86e0-eaf1eb03aed8	5f0452c9-2310-4118-b895-cf8aa79f1ccf	g.chr11:128680835C>A	ENST00000527786.2	+	9	1800	c.1311C>A	c.(1309-1311)ccC>ccA	p.P437P	FLI1_ENST00000525560.1_Silent_p.P244P|FLI1_ENST00000281428.8_Silent_p.P371P|FLI1_ENST00000344954.6_Silent_p.P404P|FLI1_ENST00000534087.2_Silent_p.P404P	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	437					blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		CCAACGTCCCCCGCCATCCTA	0.557			T	EWSR1	Ewing sarcoma																																	dbGAP		Dom	yes		11	11q24	2313	Friend leukemia virus integration 1		M	0													104.0	104.0	104.0					11																	128680835		1979	4146	6125	-	-	-	SO:0001819	synonymous_variant	0			M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"""Friend leukemia virus integration 1"""			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.1311C>A	11.37:g.128680835C>A			B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Silent	SNP	pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pfscan_Ets,prints_Ets	p.P437	ENST00000527786.2	37	c.1311	CCDS44768.1	11																																																																																			FLI1	-	NULL	ENSG00000151702		0.557	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLI1	HGNC	protein_coding	OTTHUMT00000386226.2	53	0.00	0	C	NM_002017		128680835	128680835	+1	no_errors	ENST00000429175	ensembl	human	known	69_37n	silent	45	16.67	9	SNP	0.552	A
GFRAL	389400	genome.wustl.edu	37	6	55216082	55216082	+	Silent	SNP	G	G	A			TCGA-A7-A26G-01A-21D-A167-09	TCGA-A7-A26G-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	36d1a85e-a09b-4537-86e0-eaf1eb03aed8	5f0452c9-2310-4118-b895-cf8aa79f1ccf	g.chr6:55216082G>A	ENST00000340465.2	+	5	488	c.402G>A	c.(400-402)gtG>gtA	p.V134V		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	134					negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GTTTGGAAGTGGCAGAGGCAT	0.448																																						dbGAP											0													264.0	228.0	240.0					6																	55216082		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 144"""	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.402G>A	6.37:g.55216082G>A			Q5VTF6	Silent	SNP	pfam_GDNF/GAS1,smart_GDNF/GAS1	p.V134	ENST00000340465.2	37	c.402	CCDS4957.1	6																																																																																			GFRAL	-	pfam_GDNF/GAS1,smart_GDNF/GAS1	ENSG00000187871		0.448	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFRAL	HGNC	protein_coding	OTTHUMT00000040995.2	93	0.00	0	G	NM_207410		55216082	55216082	+1	no_errors	ENST00000340465	ensembl	human	known	69_37n	silent	68	16.05	13	SNP	0.939	A
GRIPAP1	56850	genome.wustl.edu	37	X	48838243	48838243	+	Silent	SNP	G	G	C			TCGA-A7-A26G-01A-21D-A167-09	TCGA-A7-A26G-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	36d1a85e-a09b-4537-86e0-eaf1eb03aed8	5f0452c9-2310-4118-b895-cf8aa79f1ccf	g.chrX:48838243G>C	ENST00000376441.1	-	18	1675	c.1641C>G	c.(1639-1641)ctC>ctG	p.L547L	GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376423.4_Intron|GRIPAP1_ENST00000376425.3_Silent_p.L516L|GRIPAP1_ENST00000376444.3_Silent_p.L502L	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	547						blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						GACACTGCTTGAGGGCTTCCT	0.607																																						dbGAP											0													81.0	51.0	62.0					X																	48838243		2190	4272	6462	-	-	-	SO:0001819	synonymous_variant	0			AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.1641C>G	X.37:g.48838243G>C			A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Silent	SNP	superfamily_Prefoldin	p.L547	ENST00000376441.1	37	c.1641	CCDS35248.1	X																																																																																			GRIPAP1	-	superfamily_Prefoldin	ENSG00000068400		0.607	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIPAP1	HGNC	protein_coding	OTTHUMT00000080970.2	77	0.00	0	G	NM_207672		48838243	48838243	-1	no_errors	ENST00000376441	ensembl	human	known	69_37n	silent	37	19.57	9	SNP	0.005	C
GPR174	84636	genome.wustl.edu	37	X	78427390	78427390	+	Missense_Mutation	SNP	A	A	T			TCGA-A7-A26G-01A-21D-A167-09	TCGA-A7-A26G-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	36d1a85e-a09b-4537-86e0-eaf1eb03aed8	5f0452c9-2310-4118-b895-cf8aa79f1ccf	g.chrX:78427390A>T	ENST00000276077.1	+	1	922	c.886A>T	c.(886-888)Act>Tct	p.T296S		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	296						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						CTACTTTTCCACTAATGAGTT	0.423										HNSCC(63;0.18)																												dbGAP											0													134.0	115.0	121.0					X																	78427390		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF345567	CCDS14443.1	Xq13.3	2012-08-21			ENSG00000147138	ENSG00000147138		"""GPCR / Class A : Orphans"""	30245	protein-coding gene	gene with protein product		300903					Standard	NM_032553		Approved	FKSG79	uc004edg.1	Q9BXC1	OTTHUMG00000021898	ENST00000276077.1:c.886A>T	X.37:g.78427390A>T	ENSP00000276077:p.Thr296Ser		Q2M3F7	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor	p.T296S	ENST00000276077.1	37	c.886	CCDS14443.1	X	.	.	.	.	.	.	.	.	.	.	a	16.31	3.088306	0.55968	.	.	ENSG00000147138	ENST00000276077	T	0.20200	2.09	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.21921	0.0528	N	0.08118	0	0.52099	D	0.999948	D	0.61697	0.99	D	0.63192	0.912	T	0.15896	-1.0421	10	0.20519	T	0.43	.	12.964	0.58473	1.0:0.0:0.0:0.0	.	296	Q9BXC1	GP174_HUMAN	S	296	ENSP00000276077:T296S	ENSP00000276077:T296S	T	+	1	0	GPR174	78314046	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	6.039000	0.70972	1.741000	0.51731	0.433000	0.28618	ACT	GPR174	-	prints_7TM_GPCR_Rhodpsn	ENSG00000147138		0.423	GPR174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR174	HGNC	protein_coding	OTTHUMT00000057327.1	83	0.00	0	A	NM_032553		78427390	78427390	+1	no_errors	ENST00000276077	ensembl	human	known	69_37n	missense	69	20.69	18	SNP	1.000	T
GUCY1B2	2974	genome.wustl.edu	37	13	51580873	51580873	+	RNA	SNP	C	C	T	rs2296914	byFrequency	TCGA-A7-A26G-01A-21D-A167-09	TCGA-A7-A26G-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	36d1a85e-a09b-4537-86e0-eaf1eb03aed8	5f0452c9-2310-4118-b895-cf8aa79f1ccf	g.chr13:51580873C>T	ENST00000493639.2	-	0	2208					NR_003923.2		O75343	GCYB2_HUMAN	guanylate cyclase 1, soluble, beta 2 (pseudogene)						blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)										GCATGGGAAACGCCCAGAGAA	0.517													C|||	346	0.0690895	0.0295	0.0937	5008	,	,		20016	0.1468		0.0149	False		,,,				2504	0.0808					dbGAP											0																																										-	-	-			0			AF038499		13q14.3	2012-04-19	2012-04-19		ENSG00000123201	ENSG00000123201	4.6.1.2		4686	pseudogene	pseudogene		603695	"""guanylate cyclase 1, soluble, beta 2"""			9889008, 10449911	Standard	NR_003923		Approved	GC-SB2	uc010tgo.2	O75343	OTTHUMG00000016940		13.37:g.51580873C>T			Q9NZ64	RNA	SNP	-	NULL	ENST00000493639.2	37	NULL		13																																																																																			GUCY1B2	-	-	ENSG00000123201		0.517	GUCY1B2-001	KNOWN	basic	processed_transcript	GUCY1B2	HGNC	pseudogene	OTTHUMT00000045014.3	33	0.00	0	C			51580873	51580873	-1	no_errors	ENST00000485590	ensembl	human	known	69_37n	rna	39	20.41	10	SNP	0.000	T
IGKV1-5	28299	genome.wustl.edu	37	2	89247057	89247057	+	RNA	SNP	C	C	T	rs543758965		TCGA-A7-A26G-01A-21D-A167-09	TCGA-A7-A26G-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	36d1a85e-a09b-4537-86e0-eaf1eb03aed8	5f0452c9-2310-4118-b895-cf8aa79f1ccf	g.chr2:89247057C>T	ENST00000496168.1	-	0	293							P01602	KV110_HUMAN	immunoglobulin kappa variable 1-5						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										GACTCTGTCTCCTACAGATGC	0.473													.|||	1	0.000199681	0.0	0.0	5008	,	,		9761	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													123.0	117.0	119.0					2																	89247057		1936	4139	6075	-	-	-			0			Z00001		2p11.2	2012-02-08			ENSG00000243466	ENSG00000243466		"""Immunoglobulins / IGK locus"""	5741	other	immunoglobulin gene							Standard	NG_000834		Approved			P01602	OTTHUMG00000151560		2.37:g.89247057C>T				Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.G38E	ENST00000496168.1	37	c.113		2																																																																																			IGKV1-5	-	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like	ENSG00000243466		0.473	IGKV1-5-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGKV1-5	HGNC	IG_V_gene	OTTHUMT00000323135.1	106	0.00	0	C	NG_000834		89247057	89247057	-1	no_stop_codon	ENST00000496168	ensembl	human	known	69_37n	missense	58	18.31	13	SNP	0.936	T
LGALS13	29124	genome.wustl.edu	37	19	40095975	40095975	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A26G-01A-21D-A167-09	TCGA-A7-A26G-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	36d1a85e-a09b-4537-86e0-eaf1eb03aed8	5f0452c9-2310-4118-b895-cf8aa79f1ccf	g.chr19:40095975G>A	ENST00000221797.4	+	3	295	c.250G>A	c.(250-252)Gag>Aag	p.E84K		NM_013268.2	NP_037400.1	Q9UHV8	PP13_HUMAN	lectin, galactoside-binding, soluble, 13	84	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)|phospholipid metabolic process (GO:0006644)		carbohydrate binding (GO:0030246)|lysophospholipase activity (GO:0004622)			lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			CGTGCCCTTTGAGGATGGCAA	0.512																																						dbGAP											0													202.0	151.0	168.0					19																	40095975		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF117383	CCDS33024.1	19q13.2	2014-03-19	2008-07-25		ENSG00000105198	ENSG00000105198		"""Lectins, galactoside-binding"""	15449	protein-coding gene	gene with protein product	"""galectin 13"""	608717				6856484, 10527825	Standard	NM_013268		Approved	PP13, PLAC8	uc002omb.3	Q9UHV8	OTTHUMG00000183073	ENST00000221797.4:c.250G>A	19.37:g.40095975G>A	ENSP00000221797:p.Glu84Lys		C5HZ15	Missense_Mutation	SNP	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD	p.E84K	ENST00000221797.4	37	c.250	CCDS33024.1	19	.	.	.	.	.	.	.	.	.	.	.	2.510	-0.313108	0.05422	.	.	ENSG00000105198	ENST00000221797	T	0.05081	3.5	0.744	-0.905	0.10527	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.05777	0.0151	L	0.56280	1.765	0.09310	N	1	B	0.27951	0.195	B	0.25987	0.065	T	0.44174	-0.9345	8	0.17832	T	0.49	.	.	.	.	.	84	Q9UHV8	PP13_HUMAN	K	84	ENSP00000221797:E84K	ENSP00000221797:E84K	E	+	1	0	LGALS13	44787815	0.017000	0.18338	0.016000	0.15963	0.109000	0.19521	-0.049000	0.11924	-0.234000	0.09782	0.305000	0.20034	GAG	LGALS13	-	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD	ENSG00000105198		0.512	LGALS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGALS13	HGNC	protein_coding	OTTHUMT00000464968.1	70	0.00	0	G	NM_013268		40095975	40095975	+1	no_errors	ENST00000221797	ensembl	human	known	69_37n	missense	66	25.00	22	SNP	0.024	A
LPP	4026	genome.wustl.edu	37	3	188202440	188202440	+	Missense_Mutation	SNP	C	C	G			TCGA-A7-A26G-01A-21D-A167-09	TCGA-A7-A26G-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	36d1a85e-a09b-4537-86e0-eaf1eb03aed8	5f0452c9-2310-4118-b895-cf8aa79f1ccf	g.chr3:188202440C>G	ENST00000312675.4	+	4	500	c.254C>G	c.(253-255)tCt>tGt	p.S85C	LPP_ENST00000448637.1_Missense_Mutation_p.S85C|LPP_ENST00000543006.1_Missense_Mutation_p.S85C	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	85	Pro-rich.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		CCATCTATCTCTGGAAACTTT	0.418			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""																																	dbGAP		Dom	yes		3	3q28	4026	LIM domain containing preferred translocation partner in lipoma		"""L, M"""	0													179.0	178.0	178.0					3																	188202440		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"""LIM domain-containing preferred translocation partner in lipoma"""			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.254C>G	3.37:g.188202440C>G	ENSP00000318089:p.Ser85Cys		A1L4L6|D3DNV6|Q8NFX5	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.S85C	ENST00000312675.4	37	c.254	CCDS3291.1	3	.	.	.	.	.	.	.	.	.	.	C	13.09	2.132145	0.37630	.	.	ENSG00000145012	ENST00000448637;ENST00000416784;ENST00000414139;ENST00000420410;ENST00000312675;ENST00000543006	T;T;T;T	0.57107	1.79;0.82;0.42;0.42	5.18	5.18	0.71444	.	0.436247	0.18598	U	0.136537	T	0.46776	0.1410	N	0.19112	0.55	0.26755	N	0.970124	D;D;P	0.56968	0.96;0.978;0.739	P;P;B	0.52758	0.531;0.708;0.276	T	0.35549	-0.9784	10	0.38643	T	0.18	.	10.0843	0.42408	0.0:0.9075:0.0:0.0925	.	85;85;85	B7Z8W0;C9JUT4;Q93052	.;.;LPP_HUMAN	C	85	ENSP00000393602:S85C;ENSP00000410340:S85C;ENSP00000318089:S85C;ENSP00000438891:S85C	ENSP00000318089:S85C	S	+	2	0	LPP	189685134	0.189000	0.23263	0.998000	0.56505	0.843000	0.47879	2.404000	0.44539	2.568000	0.86640	0.655000	0.94253	TCT	LPP	-	NULL	ENSG00000145012		0.418	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPP	HGNC	protein_coding	OTTHUMT00000344030.1	76	0.00	0	C	NM_005578		188202440	188202440	+1	no_errors	ENST00000312675	ensembl	human	known	69_37n	missense	91	12.50	13	SNP	0.951	G
DPY19L1	23333	genome.wustl.edu	37	7	34980439	34980439	+	Intron	SNP	A	A	C			TCGA-A7-A26G-01A-21D-A167-09	TCGA-A7-A26G-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	36d1a85e-a09b-4537-86e0-eaf1eb03aed8	5f0452c9-2310-4118-b895-cf8aa79f1ccf	g.chr7:34980439A>C	ENST00000310974.4	-	19	1615				MIR548N_ENST00000408742.1_RNA	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)							integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						ttacttttgcaccaacctaTA	0.438																																						dbGAP											0													29.0	34.0	33.0					7																	34980439		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.1471-500T>G	7.37:g.34980439A>C			O94954|Q4G151	RNA	SNP	-	NULL	ENST00000310974.4	37	NULL	CCDS43567.1	7																																																																																			MIR548N	-	-	ENSG00000221669		0.438	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR548N	HGNC	protein_coding	OTTHUMT00000337506.1	26	0.00	0	A			34980439	34980439	-1	no_errors	ENST00000408742	ensembl	human	known	69_37n	rna	20	37.50	12	SNP	0.002	C
MTM1	4534	genome.wustl.edu	37	X	149787533	149787533	+	Missense_Mutation	SNP	C	C	A			TCGA-A7-A26G-01A-21D-A167-09	TCGA-A7-A26G-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	36d1a85e-a09b-4537-86e0-eaf1eb03aed8	5f0452c9-2310-4118-b895-cf8aa79f1ccf	g.chrX:149787533C>A	ENST00000370396.2	+	6	419	c.365C>A	c.(364-366)gCt>gAt	p.A122D	MTM1_ENST00000306167.7_Intron|MTM1_ENST00000542741.1_Missense_Mutation_p.A27D|MTM1_ENST00000413012.2_Missense_Mutation_p.A85D|MTM1_ENST00000543350.1_Missense_Mutation_p.A7D	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	122					endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					CTGAGGTTCGCTTTGAAACAG	0.448																																						dbGAP											0													197.0	140.0	159.0					X																	149787533		2203	4300	6503	-	-	-	SO:0001583	missense	0			U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7448	protein-coding gene	gene with protein product		300415	"""myotubular myopathy 1"""				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.365C>A	X.37:g.149787533C>A	ENSP00000359423:p.Ala122Asp		A6NDB1|B7Z491|F2Z330|Q8NEL1	Missense_Mutation	SNP	pfam_Myotub-related,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase	p.A122D	ENST00000370396.2	37	c.365	CCDS14694.1	X	.	.	.	.	.	.	.	.	.	.	C	27.0	4.795689	0.90453	.	.	ENSG00000171100	ENST00000370396;ENST00000542741;ENST00000543350;ENST00000413012	D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77	5.7	5.7	0.88788	.	0.097846	0.64402	D	0.000001	D	0.90731	0.7091	M	0.72894	2.215	0.58432	D	0.999998	P;D	0.69078	0.904;0.997	P;D	0.83275	0.738;0.996	D	0.91572	0.5272	10	0.87932	D	0	.	17.5059	0.87745	0.0:1.0:0.0:0.0	.	85;122	B7Z491;Q13496	.;MTM1_HUMAN	D	122;27;7;85	ENSP00000359423:A122D;ENSP00000444015:A27D;ENSP00000439784:A7D;ENSP00000389157:A85D	ENSP00000359423:A122D	A	+	2	0	MTM1	149538191	1.000000	0.71417	0.172000	0.22920	0.977000	0.68977	6.839000	0.75364	2.403000	0.81681	0.529000	0.55759	GCT	MTM1	-	NULL	ENSG00000171100		0.448	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MTM1	HGNC	protein_coding	OTTHUMT00000060847.3	59	0.00	0	C	NM_000252		149787533	149787533	+1	no_errors	ENST00000370396	ensembl	human	known	69_37n	missense	73	13.10	11	SNP	0.999	A
MUC5B	727897	genome.wustl.edu	37	11	1266561	1266561	+	Silent	SNP	G	G	A	rs200970694	byFrequency	TCGA-A7-A26G-01A-21D-A167-09	TCGA-A7-A26G-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	36d1a85e-a09b-4537-86e0-eaf1eb03aed8	5f0452c9-2310-4118-b895-cf8aa79f1ccf	g.chr11:1266561G>A	ENST00000529681.1	+	31	8509	c.8451G>A	c.(8449-8451)agG>agA	p.R2817R	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.R2820R	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2817	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTAGCAGCAGGACCACCGAGT	0.682																																						dbGAP											0													27.0	43.0	38.0					11																	1266561		1927	4011	5938	-	-	-	SO:0001819	synonymous_variant	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.8451G>A	11.37:g.1266561G>A			O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.R2820	ENST00000529681.1	37	c.8460	CCDS44515.2	11																																																																																			MUC5B	-	NULL	ENSG00000117983		0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	87	0.00	0	G	XM_001126093		1266561	1266561	+1	no_errors	ENST00000447027	ensembl	human	known	69_37n	silent	63	14.86	11	SNP	0.000	A
NSD1	64324	genome.wustl.edu	37	5	176637364	176637364	+	Missense_Mutation	SNP	G	G	A	rs370495638		TCGA-A7-A26G-01A-21D-A167-09	TCGA-A7-A26G-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	36d1a85e-a09b-4537-86e0-eaf1eb03aed8	5f0452c9-2310-4118-b895-cf8aa79f1ccf	g.chr5:176637364G>A	ENST00000439151.2	+	5	2009	c.1964G>A	c.(1963-1965)aGc>aAc	p.S655N	NSD1_ENST00000354179.4_Missense_Mutation_p.S386N|NSD1_ENST00000361032.4_Missense_Mutation_p.S552N|NSD1_ENST00000347982.4_Missense_Mutation_p.S386N	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	655					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ATAGAACACAGCTCAGAGTCT	0.398			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												dbGAP		Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													121.0	117.0	118.0					5																	176637364		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.1964G>A	5.37:g.176637364G>A	ENSP00000395929:p.Ser655Asn		Q96PD8|Q96RN7	Missense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.S655N	ENST00000439151.2	37	c.1964	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	G	10.02	1.237217	0.22711	.	.	ENSG00000165671	ENST00000354179;ENST00000355783;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.93604	-3.15;-3.15;-3.15;-3.25	5.1	4.22	0.49857	.	0.069443	0.64402	N	0.000009	D	0.85327	0.5671	N	0.14661	0.345	0.25186	N	0.99017	B;B;B	0.14805	0.011;0.006;0.004	B;B;B	0.19946	0.027;0.009;0.004	T	0.71676	-0.4521	9	.	.	.	.	11.1244	0.48308	0.088:0.0:0.912:0.0	.	386;552;655	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	N	386;386;655;386;552	ENSP00000346111:S386N;ENSP00000395929:S655N;ENSP00000343209:S386N;ENSP00000354310:S552N	.	S	+	2	0	NSD1	176569970	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	4.459000	0.60102	1.480000	0.48289	0.655000	0.94253	AGC	NSD1	-	NULL	ENSG00000165671		0.398	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	42	0.00	0	G	NM_172349		176637364	176637364	+1	no_errors	ENST00000439151	ensembl	human	known	69_37n	missense	28	40.43	19	SNP	1.000	A
OR4C15	81309	genome.wustl.edu	37	11	55322874	55322874	+	Missense_Mutation	SNP	G	G	T			TCGA-A7-A26G-01A-21D-A167-09	TCGA-A7-A26G-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	36d1a85e-a09b-4537-86e0-eaf1eb03aed8	5f0452c9-2310-4118-b895-cf8aa79f1ccf	g.chr11:55322874G>T	ENST00000314644.2	+	1	1092	c.1092G>T	c.(1090-1092)gaG>gaT	p.E364D		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	310						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TTTCTGATGAGAAAGAAAATA	0.323										HNSCC(20;0.049)																												dbGAP											0													32.0	33.0	33.0					11																	55322874		2196	4288	6484	-	-	-	SO:0001583	missense	0			BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.1092G>T	11.37:g.55322874G>T	ENSP00000324958:p.Glu364Asp		Q6IFE2	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.E364D	ENST00000314644.2	37	c.1092	CCDS31501.1	11	.	.	.	.	.	.	.	.	.	.	G	8.928	0.962656	0.18583	.	.	ENSG00000181939	ENST00000314644	T	0.00003	9.82	5.03	0.0691	0.14372	.	.	.	.	.	T	0.00039	0.0001	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.22138	-1.0225	9	0.54805	T	0.06	.	0.8818	0.01236	0.4215:0.1594:0.265:0.1541	.	310	Q8NGM1	OR4CF_HUMAN	D	364	ENSP00000324958:E364D	ENSP00000324958:E364D	E	+	3	2	OR4C15	55079450	0.001000	0.12720	0.000000	0.03702	0.012000	0.07955	0.053000	0.14184	-0.142000	0.11354	-0.515000	0.04445	GAG	OR4C15	-	NULL	ENSG00000181939		0.323	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C15	HGNC	protein_coding	OTTHUMT00000391164.1	25	0.00	0	G	NM_001001920		55322874	55322874	+1	no_errors	ENST00000314644	ensembl	human	known	69_37n	missense	40	18.37	9	SNP	0.000	T
OR5T1	390155	genome.wustl.edu	37	11	56043960	56043960	+	Missense_Mutation	SNP	T	T	A			TCGA-A7-A26G-01A-21D-A167-09	TCGA-A7-A26G-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	36d1a85e-a09b-4537-86e0-eaf1eb03aed8	5f0452c9-2310-4118-b895-cf8aa79f1ccf	g.chr11:56043960T>A	ENST00000313033.2	+	1	932	c.846T>A	c.(844-846)aaT>aaA	p.N282K		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					CTTCGGACAATGACATGATAG	0.403																																						dbGAP											0													205.0	178.0	187.0					11																	56043960		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"""GPCR / Class A : Olfactory receptors"""	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.846T>A	11.37:g.56043960T>A	ENSP00000323612:p.Asn282Lys		B2RNM9	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.N282K	ENST00000313033.2	37	c.846	CCDS31525.1	11	.	.	.	.	.	.	.	.	.	.	T	10.74	1.435679	0.25813	.	.	ENSG00000181698	ENST00000313033	T	0.00063	8.78	3.48	-2.73	0.05950	GPCR, rhodopsin-like superfamily (1);	0.420949	0.19961	N	0.102213	T	0.00039	0.0001	N	0.01297	-0.9	0.09310	N	1	B	0.11235	0.004	B	0.26614	0.071	T	0.14090	-1.0485	10	0.23891	T	0.37	.	3.5771	0.07938	0.5359:0.1146:0.0:0.3495	.	282	Q8NG75	OR5T1_HUMAN	K	282	ENSP00000323612:N282K	ENSP00000323612:N282K	N	+	3	2	OR5T1	55800536	0.000000	0.05858	0.117000	0.21633	0.027000	0.11550	-3.359000	0.00498	-0.226000	0.09899	-0.457000	0.05445	AAT	OR5T1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000181698		0.403	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5T1	HGNC	protein_coding	OTTHUMT00000391600.1	64	0.00	0	T	NM_001004745		56043960	56043960	+1	no_errors	ENST00000313033	ensembl	human	known	69_37n	missense	65	26.14	23	SNP	0.023	A
OSBPL10	114884	genome.wustl.edu	37	3	31725409	31725409	+	Silent	SNP	G	G	A			TCGA-A7-A26G-01A-21D-A167-09	TCGA-A7-A26G-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	36d1a85e-a09b-4537-86e0-eaf1eb03aed8	5f0452c9-2310-4118-b895-cf8aa79f1ccf	g.chr3:31725409G>A	ENST00000396556.2	-	8	1565	c.1443C>T	c.(1441-1443)ccC>ccT	p.P481P	OSBPL10_ENST00000438237.2_Silent_p.P417P	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	481					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		CGCCTATGATGGGGTTGTAGG	0.557																																						dbGAP											0													84.0	84.0	84.0					3																	31725409		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.1443C>T	3.37:g.31725409G>A			B4E212|Q9BTU5	Missense_Mutation	SNP	pfam_Oxysterol-bd	p.P250L	ENST00000396556.2	37	c.749	CCDS2651.1	3	.	.	.	.	.	.	.	.	.	.	G	9.689	1.151374	0.21371	.	.	ENSG00000144645	ENST00000429492	T	0.70749	-0.51	5.68	3.77	0.43336	.	0.000000	0.85682	D	0.000000	T	0.71888	0.3393	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73515	-0.3958	7	0.87932	D	0	-32.2694	4.8422	0.13496	0.1662:0.0:0.4847:0.3491	.	.	.	.	L	250	ENSP00000416078:P250L	ENSP00000416078:P250L	P	-	2	0	OSBPL10	31700413	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.881000	0.39638	1.537000	0.49254	0.591000	0.81541	CCA	OSBPL10	-	pfam_Oxysterol-bd	ENSG00000144645		0.557	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBPL10	HGNC	protein_coding	OTTHUMT00000253165.2	40	0.00	0	G			31725409	31725409	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000429492	ensembl	human	putative	69_37n	missense	46	26.98	17	SNP	1.000	A
OTUD7A	161725	genome.wustl.edu	37	15	31776558	31776558	+	Missense_Mutation	SNP	C	C	T	rs202059339	byFrequency	TCGA-A7-A26G-01A-21D-A167-09	TCGA-A7-A26G-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	36d1a85e-a09b-4537-86e0-eaf1eb03aed8	5f0452c9-2310-4118-b895-cf8aa79f1ccf	g.chr15:31776558C>T	ENST00000307050.4	-	11	1812	c.1720G>A	c.(1720-1722)Gag>Aag	p.E574K	OTUD7A_ENST00000382902.1_Missense_Mutation_p.E581K	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	574					protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GCACCAGACTCCTCCTTGCTG	0.701																																						dbGAP											0													34.0	37.0	36.0					15																	31776558		2201	4300	6501	-	-	-	SO:0001583	missense	0			AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"""OTU domain containing"""	20718	protein-coding gene	gene with protein product		612024	"""chromosome 15 open reading frame 16"", ""OTU domain containing 7"", ""OTU domain containing 7A"""	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.1720G>A	15.37:g.31776558C>T	ENSP00000305926:p.Glu574Lys		Q8IWK5	Missense_Mutation	SNP	pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.E581K	ENST00000307050.4	37	c.1741	CCDS10026.1	15	.	.	.	.	.	.	.	.	.	.	C	28.6	4.936425	0.92458	.	.	ENSG00000169918	ENST00000307050;ENST00000382902	T;T	0.36157	1.27;1.27	4.74	4.74	0.60224	.	0.199340	0.51477	D	0.000097	T	0.38931	0.1059	L	0.38175	1.15	0.48341	D	0.999637	P;P	0.49559	0.925;0.877	P;B	0.47162	0.54;0.339	T	0.39722	-0.9600	10	0.87932	D	0	-32.7621	17.7475	0.88425	0.0:1.0:0.0:0.0	.	581;574	Q8TE49-2;Q8TE49	.;OTU7A_HUMAN	K	574;581	ENSP00000305926:E574K;ENSP00000372358:E581K	ENSP00000305926:E574K	E	-	1	0	OTUD7A	29563850	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	7.023000	0.76437	2.148000	0.66965	0.650000	0.86243	GAG	OTUD7A	-	NULL	ENSG00000169918		0.701	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD7A	HGNC	protein_coding	OTTHUMT00000251393.2	28	0.00	0	C	NM_130901		31776558	31776558	-1	no_errors	ENST00000382902	ensembl	human	known	69_37n	missense	15	25.00	5	SNP	1.000	T
PCBP3	54039	genome.wustl.edu	37	21	47349884	47349884	+	Silent	SNP	C	C	T			TCGA-A7-A26G-01A-21D-A167-09	TCGA-A7-A26G-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	36d1a85e-a09b-4537-86e0-eaf1eb03aed8	5f0452c9-2310-4118-b895-cf8aa79f1ccf	g.chr21:47349884C>T	ENST00000400314.1	+	12	1109	c.771C>T	c.(769-771)ctC>ctT	p.L257L	PCBP3_ENST00000400308.1_Silent_p.L231L|PCBP3_ENST00000400304.1_Silent_p.L247L|PCBP3_ENST00000400310.1_Silent_p.L257L|PCBP3_ENST00000449640.1_Silent_p.L257L|PRED62_ENST00000593412.1_Intron|PCBP3_ENST00000400309.1_Silent_p.L256L			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	257					mRNA metabolic process (GO:0016071)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		TTCCTCCCCTCGGACAGACCA	0.552																																						dbGAP											0													136.0	151.0	146.0					21																	47349884		2022	4191	6213	-	-	-	SO:0001819	synonymous_variant	0			AF176329	CCDS42974.2, CCDS46652.1	21q22.3	2013-07-16	2001-11-28		ENSG00000183570	ENSG00000183570			8651	protein-coding gene	gene with protein product		608502	"""poly(rC)-binding protein 3"""			10936052	Standard	NM_020528		Approved		uc002zhq.2	P57721	OTTHUMG00000090399	ENST00000400314.1:c.771C>T	21.37:g.47349884C>T			A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	Silent	SNP	pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1	p.L257	ENST00000400314.1	37	c.771	CCDS42974.2	21																																																																																			PCBP3	-	NULL	ENSG00000183570		0.552	PCBP3-001	KNOWN	basic|CCDS	protein_coding	PCBP3	HGNC	protein_coding	OTTHUMT00000206808.2	60	0.00	0	C			47349884	47349884	+1	no_errors	ENST00000400314	ensembl	human	known	69_37n	silent	60	13.04	9	SNP	1.000	T
PCCB	5096	genome.wustl.edu	37	3	135974724	135974724	+	Silent	SNP	C	C	T			TCGA-A7-A26G-01A-21D-A167-09	TCGA-A7-A26G-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	36d1a85e-a09b-4537-86e0-eaf1eb03aed8	5f0452c9-2310-4118-b895-cf8aa79f1ccf	g.chr3:135974724C>T	ENST00000251654.4	+	2	280	c.210C>T	c.(208-210)atC>atT	p.I70I	PCCB_ENST00000469217.1_Silent_p.I70I|PCCB_ENST00000466072.1_Silent_p.I70I|PCCB_ENST00000482086.1_Intron|PCCB_ENST00000468777.1_Silent_p.I70I|PCCB_ENST00000474833.1_Intron|PCCB_ENST00000462637.1_Silent_p.I70I|PCCB_ENST00000471595.1_Silent_p.I70I|PCCB_ENST00000478469.1_Silent_p.I70I|PCCB_ENST00000483687.1_Silent_p.I70I|PCCB_ENST00000490504.1_Silent_p.I70I	NM_000532.4	NP_000523.2	P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	70	Carboxyltransferase.				biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|propionyl-CoA carboxylase activity (GO:0004658)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	GGGAGAGGATCAGTCTCTTGC	0.453																																						dbGAP											0													164.0	153.0	157.0					3																	135974724		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS3089.1, CCDS54643.1	3q21-q22	2010-07-01	2010-04-30		ENSG00000114054	ENSG00000114054	6.4.1.3		8654	protein-coding gene	gene with protein product		232050	"""propionyl Coenzyme A carboxylase, beta polypeptide"""			2895916	Standard	NM_000532		Approved		uc003eqy.2	P05166	OTTHUMG00000159792	ENST00000251654.4:c.210C>T	3.37:g.135974724C>T			B7Z2Z4|Q16813|Q96CX0	Missense_Mutation	SNP	pfam_Carboxyl_trans,pfscan_COA_CT_N,pfscan_COA_CT_C,prints_Acetyl_CoA_COase_Trfase_b_su	p.S26L	ENST00000251654.4	37	c.77	CCDS3089.1	3	.	.	.	.	.	.	.	.	.	.	C	9.925	1.213368	0.22289	.	.	ENSG00000114054	ENST00000462542	.	.	.	4.47	3.57	0.40892	.	.	.	.	.	T	0.55893	0.1949	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51426	-0.8707	4	.	.	.	.	7.0451	0.25040	0.1753:0.7328:0.0:0.0919	.	.	.	.	L	26	.	.	S	+	2	0	PCCB	137457414	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	1.196000	0.32198	1.060000	0.40578	0.462000	0.41574	TCA	PCCB	-	pfam_Carboxyl_trans,pfscan_COA_CT_N,pfscan_COA_CT_C	ENSG00000114054		0.453	PCCB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PCCB	HGNC	protein_coding	OTTHUMT00000357335.1	71	0.00	0	C			135974724	135974724	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000462542	ensembl	human	putative	69_37n	missense	66	12.00	9	SNP	1.000	T
PCLO	27445	genome.wustl.edu	37	7	82579110	82579110	+	Silent	SNP	A	A	T			TCGA-A7-A26G-01A-21D-A167-09	TCGA-A7-A26G-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	36d1a85e-a09b-4537-86e0-eaf1eb03aed8	5f0452c9-2310-4118-b895-cf8aa79f1ccf	g.chr7:82579110A>T	ENST00000333891.9	-	6	11131	c.10794T>A	c.(10792-10794)atT>atA	p.I3598I	PCLO_ENST00000423517.2_Silent_p.I3598I|PCLO_ENST00000437081.1_Silent_p.I318I	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATGAATAACCAATCTCTAAAG	0.483																																						dbGAP											0													125.0	123.0	123.0					7																	82579110		2065	4211	6276	-	-	-	SO:0001819	synonymous_variant	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.10794T>A	7.37:g.82579110A>T				Silent	SNP	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.I3598	ENST00000333891.9	37	c.10794	CCDS47630.1	7																																																																																			PCLO	-	NULL	ENSG00000186472		0.483	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	69	0.00	0	A	NM_014510		82579110	82579110	-1	no_errors	ENST00000333891	ensembl	human	known	69_37n	silent	70	14.63	12	SNP	0.195	T
PDE10A	10846	genome.wustl.edu	37	6	165846532	165846532	+	Missense_Mutation	SNP	C	C	A			TCGA-A7-A26G-01A-21D-A167-09	TCGA-A7-A26G-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	36d1a85e-a09b-4537-86e0-eaf1eb03aed8	5f0452c9-2310-4118-b895-cf8aa79f1ccf	g.chr6:165846532C>A	ENST00000366882.1	-	8	747	c.593G>T	c.(592-594)gGt>gTt	p.G198V	PDE10A_ENST00000354448.4_Missense_Mutation_p.G198V|PDE10A_ENST00000539869.2_Missense_Mutation_p.G208V			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	198	GAF 1.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	AATCAAGTCACCAATTGCAGT	0.443																																					Esophageal Squamous(22;308 615 5753 12038 40624)	dbGAP											0													114.0	105.0	108.0					6																	165846532		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.593G>T	6.37:g.165846532C>A	ENSP00000355847:p.Gly198Val		Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.G208V	ENST00000366882.1	37	c.623		6	.	.	.	.	.	.	.	.	.	.	C	29.8	5.035414	0.93630	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.74526	-0.85;-0.85	5.89	5.89	0.94794	GAF (2);	0.090535	0.85682	D	0.000000	D	0.86318	0.5904	M	0.79693	2.465	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.914	D	0.86765	0.1969	10	0.87932	D	0	.	20.2508	0.98407	0.0:1.0:0.0:0.0	.	208;198	Q9ULW9;Q9Y233	.;PDE10_HUMAN	V	198;226;208;198;197	ENSP00000355847:G198V;ENSP00000346435:G198V	ENSP00000341187:G208V	G	-	2	0	PDE10A	165766522	1.000000	0.71417	0.713000	0.30519	0.989000	0.77384	7.538000	0.82048	2.788000	0.95919	0.585000	0.79938	GGT	PDE10A	-	pfam_GAF,smart_GAF	ENSG00000112541		0.443	PDE10A-001	PUTATIVE	basic	protein_coding	PDE10A	HGNC	protein_coding	OTTHUMT00000043031.1	39	0.00	0	C			165846532	165846532	-1	no_errors	ENST00000539869	ensembl	human	known	69_37n	missense	48	12.73	7	SNP	1.000	A
PDZRN4	29951	genome.wustl.edu	37	12	41967119	41967119	+	Silent	SNP	C	C	T			TCGA-A7-A26G-01A-21D-A167-09	TCGA-A7-A26G-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	36d1a85e-a09b-4537-86e0-eaf1eb03aed8	5f0452c9-2310-4118-b895-cf8aa79f1ccf	g.chr12:41967119C>T	ENST00000402685.2	+	10	2546	c.2538C>T	c.(2536-2538)caC>caT	p.H846H	PDZRN4_ENST00000539469.2_Silent_p.H588H|PDZRN4_ENST00000298919.7_Silent_p.H586H	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	846							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TCCCAGCACACGCCCGGCATT	0.488																																						dbGAP											0													132.0	137.0	135.0					12																	41967119		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2538C>T	12.37:g.41967119C>T			Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Silent	SNP	pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING	p.H846	ENST00000402685.2	37	c.2538	CCDS53777.1	12																																																																																			PDZRN4	-	NULL	ENSG00000165966		0.488	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZRN4	HGNC	protein_coding	OTTHUMT00000403701.1	53	0.00	0	C	NM_013377		41967119	41967119	+1	no_errors	ENST00000402685	ensembl	human	known	69_37n	silent	29	32.56	14	SNP	0.768	T
PPARD	5467	genome.wustl.edu	37	6	35393844	35393844	+	Silent	SNP	G	G	A			TCGA-A7-A26G-01A-21D-A167-09	TCGA-A7-A26G-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	36d1a85e-a09b-4537-86e0-eaf1eb03aed8	5f0452c9-2310-4118-b895-cf8aa79f1ccf	g.chr6:35393844G>A	ENST00000311565.4	+	9	1663	c.1314G>A	c.(1312-1314)aaG>aaA	p.K438K	PPARD_ENST00000540939.1_Silent_p.K335K|PPARD_ENST00000418635.2_Silent_p.K340K|PPARD_ENST00000360694.3_Silent_p.K438K|PPARD_ENST00000448077.2_Silent_p.K399K	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	438	Ligand-binding.				adipose tissue development (GO:0060612)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|axon ensheathment (GO:0008366)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular response to hypoxia (GO:0071456)|cholesterol metabolic process (GO:0008203)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|fatty acid beta-oxidation (GO:0006635)|fatty acid catabolic process (GO:0009062)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)|lipid metabolic process (GO:0006629)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of inflammatory response (GO:0050728)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid biosynthetic process (GO:0008654)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epidermis development (GO:0045684)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|proteoglycan metabolic process (GO:0006029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to vitamin A (GO:0033189)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin A metabolic process (GO:0006776)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|linoleic acid binding (GO:0070539)|lipid binding (GO:0008289)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Bezafibrate(DB01393)|Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	AGATCTACAAGGACATGTACT	0.602																																						dbGAP											0													77.0	64.0	68.0					6																	35393844		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L07592	CCDS4803.1, CCDS4804.1, CCDS54994.1, CCDS54995.1	6p21.2	2013-01-16	2006-10-17		ENSG00000112033	ENSG00000112033		"""Nuclear hormone receptors"""	9235	protein-coding gene	gene with protein product		600409	"""peroxisome proliferative activated receptor, delta"""			1333051	Standard	NM_177435		Approved	NUC1, NUCII, FAAR, NR1C2	uc003okm.3	Q03181	OTTHUMG00000014567	ENST00000311565.4:c.1314G>A	6.37:g.35393844G>A			A8K6J6|B4E3V3|B6ZGS1|B7Z3W1|E9PE18|Q5D1P0|Q7Z5K0|Q9BUD4	Silent	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_1Cnucl_rcpt,prints_Str_hrmn_rcpt,prints_1Cnucl_rcpt_B,prints_Znf_hrmn_rcpt,prints_1Cnucl_rcpt_A	p.K438	ENST00000311565.4	37	c.1314	CCDS4803.1	6																																																																																			PPARD	-	superfamily_Nucl_hormone_rcpt_ligand-bd	ENSG00000112033		0.602	PPARD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PPARD	HGNC	protein_coding	OTTHUMT00000040288.1	20	0.00	0	G	NM_006238		35393844	35393844	+1	no_errors	ENST00000311565	ensembl	human	known	69_37n	silent	34	20.93	9	SNP	1.000	A
PTEN	5728	genome.wustl.edu	37	10	89692920	89692920	+	Missense_Mutation	SNP	T	T	A	rs398123323|rs370795352		TCGA-A7-A26G-01A-21D-A167-09	TCGA-A7-A26G-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	36d1a85e-a09b-4537-86e0-eaf1eb03aed8	5f0452c9-2310-4118-b895-cf8aa79f1ccf	g.chr10:89692920T>A	ENST00000371953.3	+	5	1761	c.404T>A	c.(403-405)aTa>aAa	p.I135K		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	135	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		I -> V (in BRRS). {ECO:0000269|PubMed:10400993, ECO:0000269|PubMed:11494117}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.I135K(3)|p.I135fs*45(3)|p.Y27fs*1(2)|p.I135_A137>T(1)|p.I135del(1)|p.A121_F145del(1)|p.I135fs*12(1)|p.T131fs*42(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGTGTAATGATATGTGCATAT	0.388		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												dbGAP	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	61	Whole gene deletion(37)|Deletion - Frameshift(10)|Unknown(5)|Insertion - Frameshift(3)|Substitution - Missense(3)|Deletion - In frame(2)|Complex - deletion inframe(1)	central_nervous_system(16)|prostate(16)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|endometrium(4)|breast(4)|ovary(4)|soft_tissue(1)|urinary_tract(1)	GRCh37	CM064180	PTEN	M							127.0	120.0	123.0					10																	89692920		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.404T>A	10.37:g.89692920T>A	ENSP00000361021:p.Ile135Lys		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.I135K	ENST00000371953.3	37	c.404	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	T	28.3	4.908974	0.92107	.	.	ENSG00000171862	ENST00000371953	D	0.99105	-5.43	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99539	0.9835	H	0.96943	3.91	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97927	1.0318	9	.	.	.	-11.2139	15.1019	0.72284	0.0:0.0:0.0:1.0	.	135	P60484	PTEN_HUMAN	K	135	ENSP00000361021:I135K	.	I	+	2	0	PTEN	89682900	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.661000	0.83786	1.953000	0.56701	0.533000	0.62120	ATA	PTEN	-	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ	ENSG00000171862		0.388	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	57	0.00	0	T	NM_000314		89692920	89692920	+1	no_errors	ENST00000371953	ensembl	human	known	69_37n	missense	51	15.00	9	SNP	1.000	A
IPO4	79711	genome.wustl.edu	37	14	24649088	24649088	+	IGR	SNP	G	G	A			TCGA-A7-A26G-01A-21D-A167-09	TCGA-A7-A26G-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	36d1a85e-a09b-4537-86e0-eaf1eb03aed8	5f0452c9-2310-4118-b895-cf8aa79f1ccf	g.chr14:24649088G>A	ENST00000354464.6	-	0	3646				REC8_ENST00000311457.3_Missense_Mutation_p.A511T|REC8_ENST00000559939.1_3'UTR|REC8_ENST00000559919.1_Missense_Mutation_p.A511T	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4						DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CAGGATGGCTGCCCGGGTCTT	0.617																																						dbGAP											0													52.0	57.0	56.0					14																	24649088		1986	4172	6158	-	-	-	SO:0001628	intergenic_variant	0			AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801		14.37:g.24649088G>A			B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Missense_Mutation	SNP	pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu	p.A511T	ENST00000354464.6	37	c.1531	CCDS9616.1	14	.	.	.	.	.	.	.	.	.	.	G	16.05	3.011520	0.54468	.	.	ENSG00000100918	ENST00000311457;ENST00000447460	D	0.88896	-2.44	5.8	3.91	0.45181	Rad21/Rec8-like protein, C-terminal (1);Rad21/Rec8-like protein, C-terminal, eukaryotic (1);	0.309893	0.30252	N	0.010045	D	0.90065	0.6897	M	0.84326	2.69	0.09310	N	1	P;P	0.45715	0.837;0.865	P;P	0.49421	0.475;0.61	T	0.80917	-0.1168	10	0.26408	T	0.33	-11.5133	6.8469	0.23992	0.0812:0.0:0.5982:0.3206	.	495;512	O95072-2;O95072	.;REC8_HUMAN	T	511;494	ENSP00000308699:A511T	ENSP00000308699:A511T	A	+	1	0	REC8	23718928	0.574000	0.26684	0.586000	0.28679	0.360000	0.29518	1.936000	0.40183	0.731000	0.32448	0.462000	0.41574	GCC	REC8	-	pfam_Rad21/Rec8_C_eu	ENSG00000100918		0.617	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REC8	HGNC	protein_coding	OTTHUMT00000071931.4	38	0.00	0	G	NM_024658		24649088	24649088	+1	no_errors	ENST00000311457	ensembl	human	known	69_37n	missense	40	21.57	11	SNP	0.056	A
RNF24	11237	genome.wustl.edu	37	20	3944669	3944669	+	5'UTR	SNP	G	G	A			TCGA-A7-A26G-01A-21D-A167-09	TCGA-A7-A26G-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	36d1a85e-a09b-4537-86e0-eaf1eb03aed8	5f0452c9-2310-4118-b895-cf8aa79f1ccf	g.chr20:3944669G>A	ENST00000336095.6	-	0	247				RNF24_ENST00000545616.2_Missense_Mutation_p.S20L|RNF24_ENST00000432261.2_Missense_Mutation_p.S20L|RNF24_ENST00000358395.6_5'UTR	NM_007219.3	NP_009150.1	Q9Y225	RNF24_HUMAN	ring finger protein 24							Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			large_intestine(1)|upper_aerodigestive_tract(1)	2						GCTCATGGATGAACTGTGGGG	0.398																																						dbGAP											0													71.0	71.0	71.0					20																	3944669		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_variant	0			AF151081	CCDS13074.1, CCDS46577.1	20p13	2013-01-09			ENSG00000101236	ENSG00000101236		"""RING-type (C3HC4) zinc fingers"""	13779	protein-coding gene	gene with protein product		612489					Standard	NM_007219		Approved	G1L	uc002wki.2	Q9Y225	OTTHUMG00000031770	ENST00000336095.6:c.-5C>T	20.37:g.3944669G>A			D3DVZ2|D3DVZ3|Q9UMH1	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING	p.S20L	ENST00000336095.6	37	c.59	CCDS13074.1	20	.	.	.	.	.	.	.	.	.	.	G	8.499	0.863882	0.17250	.	.	ENSG00000101236	ENST00000545616;ENST00000432261	T;T	0.24151	1.87;1.87	5.92	1.64	0.23874	.	.	.	.	.	T	0.16128	0.0388	.	.	.	0.25003	N	0.991457	B	0.02656	0.0	B	0.01281	0.0	T	0.25882	-1.0119	8	0.27082	T	0.32	.	9.6601	0.39950	0.2979:0.0:0.7021:0.0	.	20	Q9Y225-2	.	L	20	ENSP00000444711:S20L;ENSP00000388550:S20L	ENSP00000388550:S20L	S	-	2	0	RNF24	3892669	1.000000	0.71417	0.998000	0.56505	0.008000	0.06430	2.713000	0.47194	0.361000	0.24292	-0.312000	0.09012	TCA	RNF24	-	NULL	ENSG00000101236		0.398	RNF24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF24	HGNC	protein_coding	OTTHUMT00000077795.2	34	0.00	0	G			3944669	3944669	-1	no_errors	ENST00000432261	ensembl	human	known	69_37n	missense	38	33.33	19	SNP	0.998	A
ROCK1	6093	genome.wustl.edu	37	18	18534990	18534990	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A26G-01A-21D-A167-09	TCGA-A7-A26G-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	36d1a85e-a09b-4537-86e0-eaf1eb03aed8	5f0452c9-2310-4118-b895-cf8aa79f1ccf	g.chr18:18534990C>T	ENST00000399799.2	-	31	4547	c.3607G>A	c.(3607-3609)Gaa>Aaa	p.E1203K		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	1203	Auto-inhibitory.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CATTCACCTTCATTTGCATAT	0.318																																						dbGAP											0													57.0	50.0	52.0					18																	18534990		2203	4298	6501	-	-	-	SO:0001583	missense	0				CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.3607G>A	18.37:g.18534990C>T	ENSP00000382697:p.Glu1203Lys		B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.E1203K	ENST00000399799.2	37	c.3607	CCDS11870.2	18	.	.	.	.	.	.	.	.	.	.	C	33	5.248078	0.95305	.	.	ENSG00000067900	ENST00000399799	T	0.16743	2.32	5.43	5.43	0.79202	Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.46210	0.1381	M	0.78049	2.395	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.45542	-0.9254	10	0.66056	D	0.02	.	19.2276	0.93824	0.0:1.0:0.0:0.0	.	1203	Q13464	ROCK1_HUMAN	K	1203	ENSP00000382697:E1203K	ENSP00000382697:E1203K	E	-	1	0	ROCK1	16788988	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.773000	0.85462	2.530000	0.85305	0.543000	0.68304	GAA	ROCK1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pirsf_Rho-assoc_coiled-coil_kinase,pfscan_Pleckstrin_homology	ENSG00000067900		0.318	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROCK1	HGNC	protein_coding	OTTHUMT00000254641.2	85	0.00	0	C	NM_005406		18534990	18534990	-1	no_errors	ENST00000399799	ensembl	human	known	69_37n	missense	81	15.62	15	SNP	1.000	T
SEMA4C	54910	genome.wustl.edu	37	2	97531630	97531630	+	Missense_Mutation	SNP	A	A	G			TCGA-A7-A26G-01A-21D-A167-09	TCGA-A7-A26G-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	36d1a85e-a09b-4537-86e0-eaf1eb03aed8	5f0452c9-2310-4118-b895-cf8aa79f1ccf	g.chr2:97531630A>G	ENST00000305476.5	-	4	427	c.295T>C	c.(295-297)Tgt>Cgt	p.C99R		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	99	Dominant negative effect on myogenic differentiation. {ECO:0000250}.|Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell migration in hindbrain (GO:0021535)|cerebellum development (GO:0021549)|muscle cell differentiation (GO:0042692)|neural tube closure (GO:0001843)|positive regulation of stress-activated MAPK cascade (GO:0032874)|semaphorin-plexin signaling pathway (GO:0071526)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle membrane (GO:0030672)	receptor activity (GO:0004872)			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						TTCTGGATACACTCAGTCTTC	0.597																																						dbGAP											0													118.0	127.0	124.0					2																	97531630		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051526	CCDS2029.1	2q11.2	2013-01-11			ENSG00000168758	ENSG00000168758		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10731	protein-coding gene	gene with protein product	"""M-Sema F"""	604462		SEMAI		7656991	Standard	NM_017789		Approved	Semacl1, Semaf	uc002sxh.4	Q9C0C4	OTTHUMG00000130535	ENST00000305476.5:c.295T>C	2.37:g.97531630A>G	ENSP00000306844:p.Cys99Arg		Q32MJ3|Q7Z5X0	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like	p.C99R	ENST00000305476.5	37	c.295	CCDS2029.1	2	.	.	.	.	.	.	.	.	.	.	A	21.5	4.160759	0.78226	.	.	ENSG00000168758	ENST00000305476;ENST00000442264;ENST00000449330	T;T;T	0.37235	1.21;1.21;1.21	4.99	4.99	0.66335	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.68174	0.2972	H	0.94503	3.545	0.80722	D	1	D	0.65815	0.995	D	0.70935	0.971	T	0.77365	-0.2615	10	0.87932	D	0	.	12.2066	0.54355	1.0:0.0:0.0:0.0	.	99	Q9C0C4	SEM4C_HUMAN	R	99	ENSP00000306844:C99R;ENSP00000393498:C99R;ENSP00000391094:C99R	ENSP00000306844:C99R	C	-	1	0	SEMA4C	96895357	1.000000	0.71417	0.992000	0.48379	0.841000	0.47740	8.618000	0.90932	1.878000	0.54408	0.368000	0.22195	TGT	SEMA4C	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	ENSG00000168758		0.597	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4C	HGNC	protein_coding	OTTHUMT00000252957.1	71	0.00	0	A	NM_017789		97531630	97531630	-1	no_errors	ENST00000305476	ensembl	human	known	69_37n	missense	61	18.42	14	SNP	1.000	G
SCN1A	6323	genome.wustl.edu	37	2	166912953	166912953	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A26G-01A-21D-A167-09	TCGA-A7-A26G-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	36d1a85e-a09b-4537-86e0-eaf1eb03aed8	5f0452c9-2310-4118-b895-cf8aa79f1ccf	g.chr2:166912953C>T	ENST00000303395.4	-	3	440	c.441G>A	c.(439-441)atG>atA	p.M147I	AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.M147I|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.M147I|SCN1A_ENST00000423058.2_Missense_Mutation_p.M147I|AC010127.3_ENST00000595647.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	147					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GAGGGTTACTCATTGTCATAA	0.299																																						dbGAP											0													112.0	110.0	110.0					2																	166912953		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.441G>A	2.37:g.166912953C>T	ENSP00000303540:p.Met147Ile		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2	p.M147I	ENST00000303395.4	37	c.441	CCDS54413.1	2	.	.	.	.	.	.	.	.	.	.	C	14.53	2.563333	0.45694	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.97279	-4.32;-4.32;-4.32;-4.32	5.66	5.66	0.87406	.	0.062472	0.64402	D	0.000002	D	0.95714	0.8606	M	0.65975	2.015	0.35604	D	0.808085	B;B;B	0.33280	0.405;0.03;0.002	B;B;B	0.32342	0.144;0.068;0.002	D	0.97655	1.0157	10	0.66056	D	0.02	.	14.3091	0.66403	0.0:0.9288:0.0:0.0711	.	147;147;147	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	I	147	ENSP00000407030:M147I;ENSP00000303540:M147I;ENSP00000364554:M147I;ENSP00000386312:M147I	ENSP00000303540:M147I	M	-	3	0	SCN1A	166621199	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.419000	0.44671	2.814000	0.96858	0.655000	0.94253	ATG	SCN1A	-	NULL	ENSG00000144285		0.299	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	HGNC	protein_coding	OTTHUMT00000102661.1	84	0.00	0	C	NM_006920		166912953	166912953	-1	no_errors	ENST00000303395	ensembl	human	known	69_37n	missense	61	17.57	13	SNP	1.000	T
SNRPN	6638	genome.wustl.edu	37	15	25223448	25223448	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A26G-01A-21D-A167-09	TCGA-A7-A26G-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	36d1a85e-a09b-4537-86e0-eaf1eb03aed8	5f0452c9-2310-4118-b895-cf8aa79f1ccf	g.chr15:25223448C>T	ENST00000400100.1	+	12	1558	c.668C>T	c.(667-669)cCt>cTt	p.P223L	SNRPN_ENST00000444203.2_Missense_Mutation_p.P227L|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000346403.6_Missense_Mutation_p.P223L|SNHG14_ENST00000551631.2_RNA|SNRPN_ENST00000400098.1_Missense_Mutation_p.P223L|SNURF_ENST00000551312.2_Intron|SNRPN_ENST00000554227.2_Missense_Mutation_p.P227L|SNRPN_ENST00000577565.1_Missense_Mutation_p.P223L|SNRPN_ENST00000390687.4_Missense_Mutation_p.P223L|SNRPN_ENST00000400097.1_Missense_Mutation_p.P223L	NM_022807.2	NP_073718.1	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	223	Repeat-rich region.				response to hormone (GO:0009725)|RNA splicing (GO:0008380)	small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U2 snRNP (GO:0005686)	RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		ATGAGACCCCCTCCACCAGGC	0.557									Prader-Willi syndrome																													dbGAP											0													141.0	139.0	140.0					15																	25223448		1900	4108	6008	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Prader-Labhart-Willi syndrome	L80005	CCDS10017.1	15q11.2	2013-07-16			ENSG00000128739	ENSG00000128739			11164	protein-coding gene	gene with protein product	"""tissue-specific splicing protein"", ""SM protein N"", ""small nuclear ribonucleoprotein N"""	182279	"""Prader-Willi syndrome chromosome region"""	PWCR		1533223	Standard	NM_022805		Approved	SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI	uc001ywt.1	P63162	OTTHUMG00000129180	ENST00000400100.1:c.668C>T	15.37:g.25223448C>T	ENSP00000382972:p.Pro223Leu		B3KVR1|P14648|P17135|Q0D2Q5	Missense_Mutation	SNP	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_snRNP-assoc_SmB/SmN	p.P227L	ENST00000400100.1	37	c.680	CCDS10017.1	15	.	.	.	.	.	.	.	.	.	.	C	15.18	2.756750	0.49362	.	.	ENSG00000128739;ENSG00000128739;ENSG00000128739;ENSG00000128739;ENSG00000128739;ENSG00000128739;ENSG00000214265	ENST00000400100;ENST00000400098;ENST00000400097;ENST00000554227;ENST00000390687;ENST00000444203;ENST00000346403	T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87	3.98	3.06	0.35304	.	0.109676	0.64402	D	0.000005	T	0.44095	0.1277	M	0.81341	2.54	0.80722	D	1	B;B	0.17852	0.024;0.024	B;B	0.12837	0.008;0.008	T	0.51036	-0.8756	10	0.87932	D	0	-14.9325	9.9069	0.41381	0.0:0.8973:0.0:0.1027	.	227;223	B3KVR1;P63162	.;RSMN_HUMAN	L	223;223;223;227;223;227;82	ENSP00000382972:P223L;ENSP00000382970:P223L;ENSP00000382969:P223L;ENSP00000452342:P227L;ENSP00000375105:P223L;ENSP00000408767:P227L	ENSP00000306223:P82L	P	+	2	0	SNRPN;SNURF	22774541	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.652000	0.74377	1.260000	0.44134	0.591000	0.81541	CCT	SNRPN	-	pirsf_snRNP-assoc_SmB/SmN	ENSG00000128739		0.557	SNRPN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SNRPN	HGNC	protein_coding	OTTHUMT00000413849.10	55	0.00	0	C	NM_003097		25223448	25223448	+1	no_errors	ENST00000444203	ensembl	human	known	69_37n	missense	74	19.57	18	SNP	1.000	T
SPAG5	10615	genome.wustl.edu	37	17	26912598	26912598	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A26G-01A-21D-A167-09	TCGA-A7-A26G-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	36d1a85e-a09b-4537-86e0-eaf1eb03aed8	5f0452c9-2310-4118-b895-cf8aa79f1ccf	g.chr17:26912598G>A	ENST00000321765.5	-	8	2146	c.1814C>T	c.(1813-1815)tCc>tTc	p.S605F		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	605	Interaction with KNSTRN.				chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TTCCCGCATGGATGCTAGGTC	0.542																																						dbGAP											0													136.0	130.0	132.0					17																	26912598		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"""mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126"""	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.1814C>T	17.37:g.26912598G>A	ENSP00000323300:p.Ser605Phe		O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	NULL	p.S605F	ENST00000321765.5	37	c.1814	CCDS32594.1	17	.	.	.	.	.	.	.	.	.	.	G	5.253	0.232066	0.09969	.	.	ENSG00000076382	ENST00000321765;ENST00000536674	.	.	.	6.17	4.19	0.49359	.	0.095974	0.47093	D	0.000253	T	0.30510	0.0767	L	0.36672	1.1	0.09310	N	1	B	0.32203	0.36	B	0.28465	0.09	T	0.25813	-1.0121	9	0.72032	D	0.01	-0.4958	8.6225	0.33870	0.0797:0.1525:0.7678:0.0	.	605	Q96R06	SPAG5_HUMAN	F	605;102	.	ENSP00000323300:S605F	S	-	2	0	SPAG5	23936725	0.996000	0.38824	0.247000	0.24249	0.103000	0.19146	2.674000	0.46867	0.928000	0.37168	0.655000	0.94253	TCC	SPAG5	-	NULL	ENSG00000076382		0.542	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG5	HGNC	protein_coding	OTTHUMT00000390564.2	50	0.00	0	G	NM_006461		26912598	26912598	-1	no_errors	ENST00000321765	ensembl	human	known	69_37n	missense	56	11.11	7	SNP	0.037	A
SRSF7	6432	genome.wustl.edu	37	2	38976661	38976664	+	Intron	DEL	AAAT	AAAT	-	rs576332079	byFrequency	TCGA-A7-A26G-01A-21D-A167-09	TCGA-A7-A26G-10A-01D-A167-09	AAAT	AAAT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	36d1a85e-a09b-4537-86e0-eaf1eb03aed8	5f0452c9-2310-4118-b895-cf8aa79f1ccf	g.chr2:38976661_38976664delAAAT	ENST00000313117.6	-	3	624				SRSF7_ENST00000409276.1_Intron|GEMIN6_ENST00000409011.1_5'Flank|SRSF7_ENST00000446327.2_Intron	NM_001031684.2|NM_001195446.1	NP_001026854.1|NP_001182375.1	Q16629	SRSF7_HUMAN	serine/arginine-rich splicing factor 7						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TCCTTTATTAAAATAAATACCTGC	0.348																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			L41887	CCDS33183.1, CCDS56115.1	2p22.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000115875	ENSG00000115875		"""Zinc fingers, CCHC domain containing"", ""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10789	protein-coding gene	gene with protein product	"""SR splicing factor 7"""	600572	"""splicing factor, arginine/serine-rich 7 (35kD)"", ""splicing factor, arginine/serine-rich 7, 35kDa"""	SFRS7		8013463, 20516191	Standard	NM_001031684		Approved	9G8, ZCRB2, HSSG1, AAG3, RBM37, ZCCHC20	uc002rqz.3	Q16629	OTTHUMG00000102076	ENST00000313117.6:c.386+6ATTT>-	2.37:g.38976665_38976668delAAAT			B4DLU6|G5E9M3|Q564D3	Frame_Shift_Del	DEL	pfam_RRM_dom,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_RRM_dom,pfscan_Znf_CCHC,pfscan_RRM_dom	p.L131fs	ENST00000313117.6	37	c.396_393	CCDS33183.1	2																																																																																			SRSF7	-	NULL	ENSG00000115875		0.348	SRSF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRSF7	HGNC	protein_coding	OTTHUMT00000219889.2	24	0.00	0	AAAT	NM_001031684		38976661	38976664	-1	no_errors	ENST00000431066	ensembl	human	known	69_37n	frame_shift_del	28	26.32	10	DEL	0.697:0.697:0.677:0.713	-
TEKT5	146279	genome.wustl.edu	37	16	10788509	10788509	+	Silent	SNP	C	C	T	rs532956287		TCGA-A7-A26G-01A-21D-A167-09	TCGA-A7-A26G-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	36d1a85e-a09b-4537-86e0-eaf1eb03aed8	5f0452c9-2310-4118-b895-cf8aa79f1ccf	g.chr16:10788509C>T	ENST00000283025.2	-	1	293	c.222G>A	c.(220-222)ccG>ccA	p.P74P	RP11-109M19.1_ENST00000576710.1_RNA	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	74						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						GGATGGTGGGCGGCCGCAGGG	0.642																																						dbGAP											0													84.0	97.0	93.0					16																	10788509		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0				CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.222G>A	16.37:g.10788509C>T			A1L3Z3	Silent	SNP	pfam_Tektin,prints_Tektin	p.P74	ENST00000283025.2	37	c.222	CCDS10542.1	16																																																																																			TEKT5	-	NULL	ENSG00000153060		0.642	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT5	HGNC	protein_coding	OTTHUMT00000251963.1	71	0.00	0	C	NM_144674		10788509	10788509	-1	no_errors	ENST00000283025	ensembl	human	known	69_37n	silent	38	25.49	13	SNP	0.027	T
TP53	7157	genome.wustl.edu	37	17	7578191	7578191	+	Missense_Mutation	SNP	A	A	G	rs530941076		TCGA-A7-A26G-01A-21D-A167-09	TCGA-A7-A26G-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	36d1a85e-a09b-4537-86e0-eaf1eb03aed8	5f0452c9-2310-4118-b895-cf8aa79f1ccf	g.chr17:7578191A>G	ENST00000269305.4	-	6	847	c.658T>C	c.(658-660)Tat>Cat	p.Y220H	TP53_ENST00000420246.2_Missense_Mutation_p.Y220H|TP53_ENST00000413465.2_Missense_Mutation_p.Y220H|TP53_ENST00000455263.2_Missense_Mutation_p.Y220H|TP53_ENST00000359597.4_Missense_Mutation_p.Y220H|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.Y220H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y220N(12)|p.?(11)|p.Y220H(8)|p.0?(8)|p.Y220D(2)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.S215fs*27(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCGGCTCATAGGGCACCACC	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			A|||	1	0.000199681	0.0008	0.0	5008	,	,		16888	0.0		0.0	False		,,,				2504	0.0				Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	51	Substitution - Missense(22)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(4)|Insertion - Frameshift(1)	breast(10)|biliary_tract(6)|endometrium(5)|oesophagus(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|upper_aerodigestive_tract(3)|skin(3)|stomach(2)|central_nervous_system(2)|urinary_tract(2)|lung(2)|liver(2)|ovary(1)											105.0	96.0	99.0					17																	7578191		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.658T>C	17.37:g.7578191A>G	ENSP00000269305:p.Tyr220His		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.Y220H	ENST00000269305.4	37	c.658	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	A	22.1	4.245298	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99825	-6.97;-6.97;-6.97;-6.97;-6.97;-6.97;-6.97;-6.97	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99729	0.9894	M	0.72894	2.215	0.58432	D	0.999998	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.997;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.995;1.0;0.999;0.998;1.0	D	0.97028	0.9748	10	0.87932	D	0	-1.87	13.4753	0.61306	1.0:0.0:0.0:0.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220H;ENSP00000352610:Y220H;ENSP00000269305:Y220H;ENSP00000398846:Y220H;ENSP00000391127:Y220H;ENSP00000391478:Y220H;ENSP00000425104:Y88H;ENSP00000423862:Y127H	ENSP00000269305:Y220H	Y	-	1	0	TP53	7518916	1.000000	0.71417	0.614000	0.29051	0.991000	0.79684	9.287000	0.95975	2.128000	0.65567	0.460000	0.39030	TAT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	70	0.00	0	A	NM_000546		7578191	7578191	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	42	31.15	19	SNP	0.998	G
UBE2F	140739	genome.wustl.edu	37	2	238933990	238933990	+	Missense_Mutation	SNP	A	A	C			TCGA-A7-A26G-01A-21D-A167-09	TCGA-A7-A26G-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	36d1a85e-a09b-4537-86e0-eaf1eb03aed8	5f0452c9-2310-4118-b895-cf8aa79f1ccf	g.chr2:238933990A>C	ENST00000272930.4	+	6	484	c.290A>C	c.(289-291)aAa>aCa	p.K97T	UBE2F_ENST00000409953.1_Missense_Mutation_p.K73T|UBE2F_ENST00000409332.1_Missense_Mutation_p.K75T|UBE2F_ENST00000414443.1_Missense_Mutation_p.K65T|UBE2F_ENST00000409633.1_Missense_Mutation_p.K97T|UBE2F-SCLY_ENST00000449191.1_Intron	NM_001278305.1|NM_080678.2	NP_001265234.1|NP_542409.1	Q969M7	UBE2F_HUMAN	ubiquitin-conjugating enzyme E2F (putative)	97					protein neddylation (GO:0045116)		ATP binding (GO:0005524)|NEDD8 ligase activity (GO:0019788)			endometrium(1)|large_intestine(1)	2		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;6.7e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|Kidney(56;3.53e-09)|KIRC - Kidney renal clear cell carcinoma(57;9.79e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000136)|Lung(119;0.0126)|LUSC - Lung squamous cell carcinoma(224;0.0301)		CAGCCTCCCAAAGTGAAATGC	0.483																																						dbGAP											0													163.0	145.0	151.0					2																	238933990		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC010549	CCDS2523.1, CCDS63175.1, CCDS63176.1, CCDS63177.1	2q37.3	2008-02-05	2005-12-15		ENSG00000184182	ENSG00000184182		"""Ubiquitin-conjugating enzymes E2"""	12480	protein-coding gene	gene with protein product	"""NEDD8 conjugating enzyme"""					12477932	Standard	NM_080678		Approved	NCE2	uc031rrz.1	Q969M7	OTTHUMG00000133341	ENST00000272930.4:c.290A>C	2.37:g.238933990A>C	ENSP00000272930:p.Lys97Thr		A8K1Z8|B4DDT9|B4DFI1|B4DMK3|B4DZU2|B8ZZG2|C9J212|H9KVB9	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.K97T	ENST00000272930.4	37	c.290	CCDS2523.1	2	.	.	.	.	.	.	.	.	.	.	A	14.43	2.533131	0.45073	.	.	ENSG00000184182	ENST00000272930;ENST00000448502;ENST00000416292;ENST00000409633;ENST00000414443;ENST00000409953;ENST00000409332;ENST00000434655;ENST00000434137	T;T;T;T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04	4.87	3.68	0.42216	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.046681	0.85682	D	0.000000	T	0.35566	0.0936	L	0.46614	1.455	0.47094	D	0.999311	B;B;B	0.11235	0.001;0.002;0.004	B;B;B	0.21360	0.005;0.01;0.034	T	0.16217	-1.0410	10	0.62326	D	0.03	-1.4501	8.8758	0.35345	0.9087:0.0:0.0913:0.0	.	97;65;97	Q969M7-4;Q969M7-3;Q969M7	.;.;UBE2F_HUMAN	T	97;108;65;97;65;73;75;97;87	ENSP00000272930:K97T;ENSP00000396003:K108T;ENSP00000390813:K65T;ENSP00000387299:K97T;ENSP00000399183:K65T;ENSP00000386680:K73T;ENSP00000387060:K75T;ENSP00000406113:K97T;ENSP00000414619:K87T	ENSP00000272930:K97T	K	+	2	0	UBE2F	238598729	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.860000	0.55995	0.686000	0.31488	0.460000	0.39030	AAA	UBE2F	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	ENSG00000184182		0.483	UBE2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2F	HGNC	protein_coding	OTTHUMT00000257171.2	92	0.00	0	A	NM_080678		238933990	238933990	+1	no_errors	ENST00000272930	ensembl	human	known	69_37n	missense	69	17.86	15	SNP	1.000	C
VEPH1	79674	genome.wustl.edu	37	3	156979018	156979018	+	Missense_Mutation	SNP	C	C	G			TCGA-A7-A26G-01A-21D-A167-09	TCGA-A7-A26G-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	36d1a85e-a09b-4537-86e0-eaf1eb03aed8	5f0452c9-2310-4118-b895-cf8aa79f1ccf	g.chr3:156979018C>G	ENST00000362010.2	-	14	2714	c.2407G>C	c.(2407-2409)Gat>Cat	p.D803H	RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392833.2_Missense_Mutation_p.D758H|RP11-550I24.2_ENST00000475102.1_RNA|RP11-550I24.2_ENST00000488040.1_RNA|VEPH1_ENST00000392832.2_Missense_Mutation_p.D803H|VEPH1_ENST00000543418.1_Missense_Mutation_p.D758H	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	803	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TTCTTCTCATCCTTGGCCTTA	0.483																																						dbGAP											0													141.0	128.0	132.0					3																	156979018		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.2407G>C	3.37:g.156979018C>G	ENSP00000354919:p.Asp803His		D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.D803H	ENST00000362010.2	37	c.2407	CCDS3179.1	3	.	.	.	.	.	.	.	.	.	.	C	24.0	4.480082	0.84747	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832	T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04	5.38	4.51	0.55191	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.88262	0.6389	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;0.99	D;D	0.83275	0.996;0.949	D	0.89741	0.3933	10	0.72032	D	0.01	-2.1527	14.1026	0.65068	0.0:0.9278:0.0:0.0722	.	758;803	Q14D04-2;Q14D04	.;MELT_HUMAN	H	758;803;758;803	ENSP00000376578:D758H;ENSP00000354919:D803H;ENSP00000446258:D758H;ENSP00000376577:D803H	ENSP00000354919:D803H	D	-	1	0	VEPH1	158461712	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.888000	0.69758	1.275000	0.44379	0.655000	0.94253	GAT	VEPH1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000197415		0.483	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEPH1	HGNC	protein_coding	OTTHUMT00000351845.3	59	0.00	0	C	NM_024621		156979018	156979018	-1	no_errors	ENST00000362010	ensembl	human	known	69_37n	missense	92	13.21	14	SNP	1.000	G
ZNF470	388566	genome.wustl.edu	37	19	57089783	57089783	+	Silent	SNP	C	C	A			TCGA-A7-A26G-01A-21D-A167-09	TCGA-A7-A26G-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	36d1a85e-a09b-4537-86e0-eaf1eb03aed8	5f0452c9-2310-4118-b895-cf8aa79f1ccf	g.chr19:57089783C>A	ENST00000330619.8	+	6	2672	c.1986C>A	c.(1984-1986)gcC>gcA	p.A662A	ZNF470_ENST00000391709.3_Silent_p.A662A|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	662					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		GCCAGGTTGCCCATCTTACTC	0.428																																						dbGAP											0													93.0	89.0	91.0					19																	57089783		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"""Zinc fingers, C2H2-type"", ""-"""	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.1986C>A	19.37:g.57089783C>A			A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Silent	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.A662	ENST00000330619.8	37	c.1986	CCDS33122.1	19																																																																																			ZNF470	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197016		0.428	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF470	HGNC	protein_coding	OTTHUMT00000459707.2	55	0.00	0	C	NM_001001668		57089783	57089783	+1	no_errors	ENST00000330619	ensembl	human	known	69_37n	silent	56	15.15	10	SNP	0.000	A
