#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_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
WDR81	124997	genome.wustl.edu	37	17	1636852	1636852	+	Missense_Mutation	SNP	C	C	A			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr17:1636852C>A	ENST00000409644.1	+	7	4521	c.4521C>A	c.(4519-4521)caC>caA	p.H1507Q	WDR81_ENST00000545662.1_Missense_Mutation_p.H138Q|WDR81_ENST00000419248.1_Missense_Mutation_p.H280Q|WDR81_ENST00000437219.2_Missense_Mutation_p.H304Q|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000309182.5_Missense_Mutation_p.H456Q|WDR81_ENST00000446363.1_Missense_Mutation_p.H146Q	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1507					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TCCCCAACCACGAGCTGGTTG	0.637																																																0			17											60.0	72.0	68.0					17																	1636852		2187	4256	6443	1583602	SO:0001583	missense	124997			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.4521C>A	17.37:g.1636852C>A	ENSP00000386609:p.His1507Gln		1583602	B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	superfamily_BEACH domain,HMMPfam_Beach,superfamily_WD40 repeat-like,PatternScan_FBPASE,HMMSmart_SM00320,HMMPfam_WD40	p.H1507Q	ENST00000409644.1	37	c.4521	CCDS54062.1	17	.	.	.	.	.	.	.	.	.	.	C	16.85	3.236959	0.58886	.	.	ENSG00000167716	ENST00000437219;ENST00000309182;ENST00000446363;ENST00000419248;ENST00000418841;ENST00000409644;ENST00000354680;ENST00000545662	T;T;T;T;T;T;T	0.62364	2.32;2.23;0.44;2.33;0.03;0.53;0.39	5.38	-5.6	0.02497	.	0.000000	0.85682	D	0.000000	T	0.70579	0.3240	M	0.64404	1.975	0.42575	D	0.993195	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.87578	0.953;0.998;0.995;0.986	T	0.73610	-0.3928	10	0.56958	D	0.05	.	14.3022	0.66359	0.0:0.4254:0.0:0.5746	.	138;304;634;456	B7Z6V3;B7Z579;Q8TEL1;Q562E7	.;.;.;WDR81_HUMAN	Q	304;456;146;280;92;1507;258;138	ENSP00000391074:H304Q;ENSP00000312074:H456Q;ENSP00000401560:H146Q;ENSP00000407845:H280Q;ENSP00000395198:H92Q;ENSP00000386609:H1507Q;ENSP00000442726:H138Q	ENSP00000312074:H456Q	H	+	3	2	WDR81	1583602	0.001000	0.12720	0.923000	0.36655	0.969000	0.65631	-1.543000	0.02194	-0.866000	0.04068	-0.793000	0.03317	CAC	-	superfamily_WD40 repeat-like		0.637	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR81	protein_coding	OTTHUMT00000333118.2	C	NM_152348		1583602	+1	no_errors	ENST00000409644	ensembl	human	known	54_36p	missense	SNP	0.997	A
SERPINB9	5272	genome.wustl.edu	37	6	2890404	2890404	+	Missense_Mutation	SNP	G	G	A			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr6:2890404G>A	ENST00000380698.4	-	7	1213	c.1124C>T	c.(1123-1125)tCg>tTg	p.S375L		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	375					cellular response to estrogen stimulus (GO:0071391)|immune response (GO:0006955)|mast cell mediated immunity (GO:0002448)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				CCTTTATGGCGATGAGAACCT	0.537																																																0			6											61.0	56.0	58.0					6																	2890404		2203	4300	6503	2835403	SO:0001583	missense	5272			L40378	CCDS4478.1	6p25.2	2014-02-18	2005-08-18		ENSG00000170542	ENSG00000170542		"""Serine (or cysteine) peptidase inhibitors"""	8955	protein-coding gene	gene with protein product		601799	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 9"""	PI9		8530382, 9858835, 24172014	Standard	NM_004155		Approved	CAP3	uc003mug.4	P50453	OTTHUMG00000014131	ENST00000380698.4:c.1124C>T	6.37:g.2890404G>A	ENSP00000370074:p.Ser375Leu		2835403	B2RBW3|Q5TD03	Missense_Mutation	SNP	HMMPfam_Serpin,superfamily_Prot_inh_serpin,HMMSmart_SERPIN,PatternScan_SERPIN	p.S375L	ENST00000380698.4	37	c.1124	CCDS4478.1	6	.	.	.	.	.	.	.	.	.	.	G	18.87	3.714744	0.68730	.	.	ENSG00000170542	ENST00000380698	D	0.83755	-1.76	4.66	3.77	0.43336	Serpin domain (3);	0.159864	0.64402	D	0.000015	D	0.84638	0.5516	M	0.91717	3.235	0.48571	D	0.999677	P	0.47545	0.897	P	0.48982	0.597	D	0.86762	0.1967	10	0.72032	D	0.01	.	9.5214	0.39138	0.1689:0.0:0.8311:0.0	.	375	P50453	SPB9_HUMAN	L	375	ENSP00000370074:S375L	ENSP00000370074:S375L	S	-	2	0	SERPINB9	2835403	1.000000	0.71417	0.089000	0.20774	0.611000	0.37282	3.739000	0.55075	1.218000	0.43458	0.655000	0.94253	TCG	-	HMMPfam_Serpin,superfamily_Prot_inh_serpin,HMMSmart_SERPIN		0.537	SERPINB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB9	protein_coding	OTTHUMT00000039656.1	G			2835403	-1	no_errors	NM_004155	genbank	human	validated	54_36p	missense	SNP	0.760	A
KIF1C	10749	genome.wustl.edu	37	17	4923836	4923836	+	Silent	SNP	G	G	A	rs200771979		TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr17:4923836G>A	ENST00000320785.5	+	20	2157	c.1800G>A	c.(1798-1800)ccG>ccA	p.P600P	AC109333.10_ENST00000438266.1_RNA|KIF1C_ENST00000573815.1_3'UTR	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	600					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						TCAACCACCCGGAGCAGGCAA	0.582																																					Melanoma(96;1023 1447 10250 19259 33730)											0			17						G		1,4405	2.1+/-5.4	0,1,2202	48.0	50.0	50.0		1800	3.5	1.0	17		50	0,8598		0,0,4299	no	coding-synonymous	KIF1C	NM_006612.5		0,1,6501	AA,AG,GG		0.0,0.0227,0.0077		600/1104	4923836	1,13003	2203	4299	6502	4864560	SO:0001819	synonymous_variant	10749			U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"""Kinesins"""	6317	protein-coding gene	gene with protein product		603060	"""spastic ataxia 2 (autosomal recessive)"""	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.1800G>A	17.37:g.4923836G>A			4864560	D3DTL6|O75186|Q5U618	Silent	SNP	HMMSmart_KISc,superfamily_SSF52540,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_SMAD_FHA,HMMSmart_FHA,HMMPfam_FHA	p.P600	ENST00000320785.5	37	c.1800	CCDS11065.1	17																																																																																			-	NULL		0.582	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1C	protein_coding	OTTHUMT00000216916.1	G			4864560	+1	no_errors	NM_006612	genbank	human	provisional	54_36p	silent	SNP	0.996	A
BRD4	23476	genome.wustl.edu	37	19	15366124	15366124	+	Silent	SNP	C	C	T			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr19:15366124C>T	ENST00000263377.2	-	10	2252	c.2031G>A	c.(2029-2031)aaG>aaA	p.K677K	BRD4_ENST00000602230.1_5'Flank|BRD4_ENST00000360016.5_Silent_p.K677K|BRD4_ENST00000371835.4_Silent_p.K677K	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	677	NET. {ECO:0000255|PROSITE- ProRule:PRU00857}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GTTTCCTTTTCTTCCGCAAAC	0.542			T	C15orf55	lethal midline carcinoma of young people																																		Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	0			19											52.0	52.0	52.0					19																	15366124		2203	4300	6503	15227124	SO:0001819	synonymous_variant	23476			Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.2031G>A	19.37:g.15366124C>T			15227124	O60433|Q4G0X8|Q86YS8|Q96PD3	Silent	SNP	superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1	p.K677	ENST00000263377.2	37	c.2031	CCDS12328.1	19																																																																																			-	NULL		0.542	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	BRD4	protein_coding	OTTHUMT00000465800.3	C	NM_058243		15227124	-1	no_errors	NM_058243	genbank	human	reviewed	54_36p	silent	SNP	0.998	T
PSIP1	11168	genome.wustl.edu	37	9	15468838	15468838	+	Missense_Mutation	SNP	G	G	C			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr9:15468838G>C	ENST00000380733.4	-	14	1553	c.1210C>G	c.(1210-1212)Cgg>Ggg	p.R404G	PSIP1_ENST00000380738.4_Missense_Mutation_p.R404G			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	404					establishment of integrated proviral latency (GO:0075713)|mRNA 5'-splice site recognition (GO:0000395)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to heat (GO:0009408)|response to oxidative stress (GO:0006979)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription coactivator activity (GO:0001105)|supercoiled DNA binding (GO:0097100)			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		TTGAATCGCCGTATCTGAGAA	0.303																																																0			9											71.0	69.0	70.0					9																	15468838		2203	4300	6503	15458838	SO:0001583	missense	11168			AF098482	CCDS6479.1, CCDS6480.1	9p22.2	2008-02-05	2004-02-24		ENSG00000164985	ENSG00000164985			9527	protein-coding gene	gene with protein product		603620	"""PC4 and SFRS1 interacting protein 2"""	PSIP2		9822615, 9885563	Standard	NM_033222		Approved	p52, LEDGF, p75	uc003zlw.4	O75475	OTTHUMG00000021021	ENST00000380733.4:c.1210C>G	9.37:g.15468838G>C	ENSP00000370109:p.Arg404Gly		15458838	D3DRI9|O00256|O95368|Q6P391|Q86YB9|Q9NZI3|Q9UER6	Missense_Mutation	SNP	superfamily_Tudor/PWWP/MBT,HMMPfam_PWWP,HMMSmart_SM00293	p.R404G	ENST00000380733.4	37	c.1210	CCDS6479.1	9	.	.	.	.	.	.	.	.	.	.	G	17.94	3.512467	0.64522	.	.	ENSG00000164985	ENST00000380733;ENST00000380738	T;T	0.68903	-0.36;-0.36	5.13	5.13	0.70059	.	0.053624	0.85682	D	0.000000	T	0.74397	0.3711	L	0.55990	1.75	0.80722	D	1	D	0.58970	0.984	P	0.53490	0.727	T	0.77172	-0.2685	10	0.87932	D	0	.	19.4671	0.94946	0.0:0.0:1.0:0.0	.	404	O75475	PSIP1_HUMAN	G	404	ENSP00000370109:R404G;ENSP00000370114:R404G	ENSP00000370109:R404G	R	-	1	2	PSIP1	15458838	1.000000	0.71417	0.998000	0.56505	0.787000	0.44495	5.073000	0.64395	2.766000	0.95052	0.650000	0.86243	CGG	-	NULL		0.303	PSIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PSIP1	protein_coding	OTTHUMT00000055445.1	G	NM_033222		15458838	-1	no_errors	NM_033222	genbank	human	validated	54_36p	missense	SNP	1.000	C
PTER	9317	genome.wustl.edu	37	10	16553185	16553185	+	Missense_Mutation	SNP	G	G	T			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr10:16553185G>T	ENST00000378000.1	+	6	1226	c.980G>T	c.(979-981)aGa>aTa	p.R327I	PTER_ENST00000423462.2_Missense_Mutation_p.R280I|PTER_ENST00000535784.2_Missense_Mutation_p.R327I|PTER_ENST00000298942.3_Missense_Mutation_p.R327I	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	327					catabolic process (GO:0009056)|epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						ATGTTGCTGAGAGGCATAACT	0.398																																					Ovarian(2;46 150 15648 38137 47908)											0			10											169.0	161.0	164.0					10																	16553185		2203	4300	6503	16593191	SO:0001583	missense	9317			BC015092	CCDS7111.1, CCDS58070.1, CCDS73070.1	10p12	2003-11-05			ENSG00000165983	ENSG00000165983			9590	protein-coding gene	gene with protein product		604446				9925913	Standard	NM_001001484		Approved		uc001ioi.2	Q96BW5	OTTHUMG00000017737	ENST00000378000.1:c.980G>T	10.37:g.16553185G>T	ENSP00000367239:p.Arg327Ile		16593191	B0YJ77|B3KTF5|D3DRU0|Q9BY46	Missense_Mutation	SNP	superfamily_Metallo-dependent hydrolases,HMMPfam_PTE,PatternScan_PHOSPHOTRIESTERASE_1	p.R327I	ENST00000378000.1	37	c.980	CCDS7111.1	10	.	.	.	.	.	.	.	.	.	.	G	18.87	3.716404	0.68844	.	.	ENSG00000165983	ENST00000343656;ENST00000535784;ENST00000423462;ENST00000378000;ENST00000298942	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.75177	0.3814	M	0.90425	3.115	0.80722	D	1	D;P	0.58970	0.984;0.804	D;P	0.66847	0.947;0.771	T	0.76429	-0.2962	10	0.44086	T	0.13	-26.2545	20.1859	0.98214	0.0:0.0:1.0:0.0	.	280;327	Q96BW5-2;Q96BW5	.;PTER_HUMAN	I	327;327;280;327;327	ENSP00000439485:R327I;ENSP00000389535:R280I;ENSP00000367239:R327I;ENSP00000298942:R327I	ENSP00000298942:R327I	R	+	2	0	PTER	16593191	1.000000	0.71417	0.967000	0.41034	0.312000	0.27988	9.230000	0.95299	2.787000	0.95880	0.603000	0.83216	AGA	-	superfamily_Metallo-dependent hydrolases,HMMPfam_PTE		0.398	PTER-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTER	protein_coding	OTTHUMT00000047001.2	G	NM_030664		16593191	+1	no_errors	NM_001001484	genbank	human	validated	54_36p	missense	SNP	1.000	T
FLCN	201163	genome.wustl.edu	37	17	17135198	17135198	+	Splice_Site	SNP	T	T	C			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr17:17135198T>C	ENST00000285071.4	-	3	342		c.e3-2		FLCN_ENST00000389169.5_Splice_Site|RP11-45M22.4_ENST00000427497.3_Splice_Site	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin						cell-cell junction assembly (GO:0007043)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in kidney development (GO:1901723)|negative regulation of energy homeostasis (GO:2000506)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of gene expression (GO:0010629)|negative regulation of mitochondrion organization (GO:0010823)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of gene expression (GO:0010628)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cytokinesis (GO:0032465)|regulation of histone acetylation (GO:0035065)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|regulation of TOR signaling (GO:0032006)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GTGGTCACACTGGGAATGGCA	0.582									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome																																							0			17																																								17075923	SO:0001630	splice_region_variant	201163	Familial Cancer Database	Familial Clear Cell Renal Cell Cancer, FcRCC, Familial Non-VHL Non-Papillary Clear Cell Renal Cancer;BHD, Fibrofolliculomas with Trichodiscomas and Acrochordons, incl.: Hornstein-Knickenberg syndrome, Perifollicular Fibromatosis	AF517523	CCDS32579.1, CCDS32580.1	17p11.2	2014-09-17			ENSG00000154803	ENSG00000154803			27310	protein-coding gene	gene with protein product		607273					Standard	NM_144997		Approved	BHD, MGC17998, MGC23445	uc002gra.4	Q8NFG4	OTTHUMG00000059275	ENST00000285071.4:c.113-2A>G	17.37:g.17135198T>C			17075923	A6NJJ8|Q6ZRX1|Q96BD2|Q96BE4	Splice_Site	SNP	-	e1-2	ENST00000285071.4	37	c.1-2	CCDS32579.1	17																																																																																			-	-		0.582	FLCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLCN	protein_coding	OTTHUMT00000131577.1	T	NM_144606	Intron	17075923	-1	no_errors	NM_144997	genbank	human	reviewed	54_36p	splice_site	SNP	0.010	C
ATP13A2	23400	genome.wustl.edu	37	1	17326759	17326759	+	Missense_Mutation	SNP	C	C	A			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr1:17326759C>A	ENST00000326735.8	-	10	922	c.889G>T	c.(889-891)Gtg>Ttg	p.V297L	ATP13A2_ENST00000341676.5_Missense_Mutation_p.V292L|ATP13A2_ENST00000452699.1_Missense_Mutation_p.V292L|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000502860.1_5'UTR			Q9NQ11	AT132_HUMAN	ATPase type 13A2	297					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		GGCCGGCACACGCACACCCGC	0.706																																																0			1																																								17199346	SO:0001583	missense	23400			AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"""ATPases / P-type"", ""Parkinson disease"""	30213	protein-coding gene	gene with protein product		610513	"""Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"""	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.889G>T	1.37:g.17326759C>A	ENSP00000327214:p.Val297Leu		17199346	O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Missense_Mutation	SNP	superfamily_Calcium ATPase transmembrane domain M,HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,HMMPfam_Hydrolase,PatternScan_ATPASE_E1_E2,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_HAD-like,PatternScan_COF_2	p.V297L	ENST00000326735.8	37	c.889	CCDS175.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.967788|3.967788	0.74131|0.74131	.|.	.|.	ENSG00000159363|ENSG00000159363	ENST00000510069|ENST00000326735;ENST00000341676;ENST00000452699;ENST00000506174	.|D;D;D;D	.|0.90504	.|-2.68;-2.68;-2.68;-2.68	4.82|4.82	4.82|4.82	0.62117|0.62117	.|ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	.|0.066312	.|0.64402	.|D	.|0.000010	D|D	0.94082|0.94082	0.8103|0.8103	M|M	0.76433|0.76433	2.335|2.335	0.58432|0.58432	D|D	0.99999|0.99999	.|P;P;D;B;P	.|0.55385	.|0.793;0.785;0.971;0.197;0.784	.|B;P;D;B;P	.|0.64687	.|0.405;0.701;0.928;0.075;0.591	D|D	0.94317|0.94317	0.7550|0.7550	5|10	.|0.66056	.|D	.|0.02	-25.229|-25.229	12.7123|12.7123	0.57096|0.57096	0.0:0.8341:0.1659:0.0|0.0:0.8341:0.1659:0.0	.|.	.|10;10;292;292;297	.|Q52PK6;Q6ZP48;Q5JXY1;Q6S9Z9;Q9NQ11	.|.;.;.;.;AT132_HUMAN	L|L	271|297;292;292;17	.|ENSP00000327214:V297L;ENSP00000341115:V292L;ENSP00000413307:V292L;ENSP00000424393:V17L	.|ENSP00000327214:V297L	R|V	-|-	2|1	0|0	ATP13A2|ATP13A2	17199346|17199346	0.999000|0.999000	0.42202|0.42202	0.969000|0.969000	0.41365|0.41365	0.828000|0.828000	0.46876|0.46876	4.584000|4.584000	0.60971|0.60971	2.374000|2.374000	0.81015|0.81015	0.585000|0.585000	0.79938|0.79938	CGT|GTG	-	superfamily_Calcium ATPase transmembrane domain M,HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A		0.706	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP13A2	protein_coding	OTTHUMT00000006617.1	C	NM_022089		17199346	-1	no_errors	NM_022089	genbank	human	reviewed	54_36p	missense	SNP	0.960	A
GSC2	2928	genome.wustl.edu	37	22	19137290	19137290	+	Missense_Mutation	SNP	G	G	C	rs201641909	byFrequency	TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr22:19137290G>C	ENST00000086933.2	-	2	398	c.399C>G	c.(397-399)ttC>ttG	p.F133L		NM_005315.1	NP_005306.1	O15499	GSC2_HUMAN	goosecoid homeobox 2	133					anatomical structure morphogenesis (GO:0009653)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(1)|lung(2)	4	Colorectal(54;0.0993)					GCTCTTCGCTGAAGATGGTGC	0.716																																																0			22											8.0	10.0	10.0					22																	19137290		2110	4174	6284	17517290	SO:0001583	missense	2928				CCDS13757.1	22q11.21	2011-06-20	2007-08-28	2007-08-28	ENSG00000063515	ENSG00000063515		"""Homeoboxes / PRD class"""	4613	protein-coding gene	gene with protein product		601845	"""goosecoid-like"""	GSCL		9150167	Standard	NM_005315		Approved		uc011ags.2	O15499	OTTHUMG00000150122	ENST00000086933.2:c.399C>G	22.37:g.19137290G>C	ENSP00000086933:p.Phe133Leu		17517290		Missense_Mutation	SNP	superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1	p.F133L	ENST00000086933.2	37	c.399	CCDS13757.1	22	.	.	.	.	.	.	.	.	.	.	g	22.0	4.225362	0.79576	.	.	ENSG00000063515	ENST00000086933	D	0.97041	-4.22	4.55	3.53	0.40419	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.97952	0.9326	M	0.80616	2.505	0.58432	D	0.999999	D	0.76494	0.999	D	0.85130	0.997	D	0.97833	1.0264	10	0.87932	D	0	-17.8773	8.9852	0.35990	0.1754:0.0:0.8246:0.0	.	133	O15499	GSC2_HUMAN	L	133	ENSP00000086933:F133L	ENSP00000086933:F133L	F	-	3	2	GSC2	17517290	.	.	1.000000	0.80357	0.734000	0.41952	.	.	1.027000	0.39758	0.450000	0.29827	TTC	-	superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox		0.716	GSC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSC2	protein_coding	OTTHUMT00000316440.2	G	NM_005315		17517290	-1	no_errors	NM_005315	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
DRG2	1819	genome.wustl.edu	37	17	18003900	18003900	+	Silent	SNP	C	C	A			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr17:18003900C>A	ENST00000225729.3	+	7	696	c.558C>A	c.(556-558)ggC>ggA	p.G186G	DRG2_ENST00000583355.1_Intron|DRG2_ENST00000395726.4_Silent_p.G186G	NM_001388.4	NP_001379.1	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2	186	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	14	all_neural(463;0.228)					AAGGTGGTGGCATCTCCTTTA	0.557																																																0			17											95.0	83.0	87.0					17																	18003900		2203	4300	6503	17944625	SO:0001819	synonymous_variant	1819			X80754	CCDS11191.1	17p13-p12	2008-07-18	2001-11-28		ENSG00000108591	ENSG00000108591			3030	protein-coding gene	gene with protein product		602986	"""developmentally regulated GTP-binding protein 2"""			9605870, 7929244	Standard	NM_001388		Approved		uc002gsh.2	P55039	OTTHUMG00000059399	ENST00000225729.3:c.558C>A	17.37:g.18003900C>A			17944625	B2R8G5|Q53Y50|Q9BWB2	Silent	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_MMR_HSR1,PatternScan_GTP1_OBG,HMMPfam_TGS	p.G186	ENST00000225729.3	37	c.558	CCDS11191.1	17																																																																																			-	superfamily_P-loop containing nucleoside triphosphate hydrolases		0.557	DRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRG2	protein_coding	OTTHUMT00000132075.3	C	NM_001388		17944625	+1	no_errors	NM_001388	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
LLGL1	3996	genome.wustl.edu	37	17	18139976	18139976	+	Missense_Mutation	SNP	C	C	T			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr17:18139976C>T	ENST00000316843.4	+	12	1504	c.1408C>T	c.(1408-1410)Ctc>Ttc	p.L470F		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	470					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GCTGCGGCCGCTCTATAAGCT	0.657																																																0			17											48.0	46.0	47.0					17																	18139976		2203	4300	6503	18080701	SO:0001583	missense	3996				CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"""WD repeat domain containing"""	6628	protein-coding gene	gene with protein product		600966	"""lethal giant larvae (Drosophila) homolog 1"""	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.1408C>T	17.37:g.18139976C>T	ENSP00000321537:p.Leu470Phe		18080701	A7MBM7|O00188|Q58F11|Q86UK6	Missense_Mutation	SNP	HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_LLGL,HMMPfam_WD40	p.L470F	ENST00000316843.4	37	c.1408	CCDS32586.1	17	.	.	.	.	.	.	.	.	.	.	C	20.3	3.968713	0.74131	.	.	ENSG00000131899	ENST00000316843	T	0.32023	1.47	5.91	4.95	0.65309	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.121009	0.56097	D	0.000028	T	0.56949	0.2020	M	0.90595	3.13	0.43667	D	0.996098	D	0.65815	0.995	P	0.60345	0.873	T	0.65776	-0.6086	10	0.87932	D	0	-36.9478	10.9542	0.47347	0.0:0.8496:0.0:0.1504	.	470	Q15334	L2GL1_HUMAN	F	470	ENSP00000321537:L470F	ENSP00000321537:L470F	L	+	1	0	LLGL1	18080701	0.979000	0.34478	0.077000	0.20336	0.973000	0.67179	2.534000	0.45676	1.525000	0.49052	0.655000	0.94253	CTC	-	superfamily_WD40 repeat-like		0.657	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LLGL1	protein_coding	OTTHUMT00000132067.3	C			18080701	+1	no_errors	NM_004140	genbank	human	reviewed	54_36p	missense	SNP	0.837	T
ITPRIPL2	162073	genome.wustl.edu	37	16	19127323	19127323	+	Missense_Mutation	SNP	C	C	A			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr16:19127323C>A	ENST00000381440.3	+	1	2070	c.1540C>A	c.(1540-1542)Cgc>Agc	p.R514S	CTD-2349B8.1_ENST00000564808.2_Intron	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	514						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CGGGGGTCCCCGCTACCTTGC	0.672																																																0			16											46.0	50.0	49.0					16																	19127323		2197	4300	6497	19034824	SO:0001583	missense	162073				CCDS32395.1	16p12.3	2011-04-28	2011-04-28		ENSG00000205730	ENSG00000205730			27257	protein-coding gene	gene with protein product			"""inositol 1,4,5-triphosphate receptor interacting protein-like 2"""				Standard	NM_001034841		Approved	FLJ22994, MGC126798, MGC126800, LOC162073	uc002dfu.4	Q3MIP1		ENST00000381440.3:c.1540C>A	16.37:g.19127323C>A	ENSP00000370849:p.Arg514Ser		19034824		Missense_Mutation	SNP	NULL	p.R514S	ENST00000381440.3	37	c.1540	CCDS32395.1	16	.	.	.	.	.	.	.	.	.	.	C	22.8	4.343036	0.82022	.	.	ENSG00000205730	ENST00000381440	T	0.19669	2.13	5.5	5.5	0.81552	.	0.000000	0.36665	U	0.002463	T	0.37571	0.1008	L	0.32530	0.975	0.45777	D	0.998668	D	0.89917	1.0	D	0.81914	0.995	T	0.10613	-1.0622	10	0.72032	D	0.01	-13.0239	17.5806	0.87966	0.0:1.0:0.0:0.0	.	514	Q3MIP1	IPIL2_HUMAN	S	514	ENSP00000370849:R514S	ENSP00000370849:R514S	R	+	1	0	ITPRIPL2	19034824	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	2.442000	0.44873	2.588000	0.87417	0.561000	0.74099	CGC	-	NULL		0.672	ITPRIPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPRIPL2	protein_coding	OTTHUMT00000435827.3	C	NM_001034841		19034824	+1	no_errors	NM_001034841	genbank	human	validated	54_36p	missense	SNP	1.000	A
NKX2-4	644524	genome.wustl.edu	37	20	21376927	21376927	+	Silent	SNP	C	C	A			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr20:21376927C>A	ENST00000351817.4	-	2	1315	c.687G>T	c.(685-687)acG>acT	p.T229T	RP11-227D2.3_ENST00000552439.1_RNA|RP11-227D2.3_ENST00000419666.2_RNA	NM_033176.1	NP_149416.1	Q9H2Z4	NKX24_HUMAN	NK2 homeobox 4	229					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			lung(2)|upper_aerodigestive_tract(1)	3						CCTGCGTGGGCGTCAGGTGGA	0.652																																																0			20											39.0	38.0	38.0					20																	21376927		2203	4299	6502	21324927	SO:0001819	synonymous_variant	644524				CCDS42855.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125816	ENSG00000125816		"""Homeoboxes / ANTP class : NKL subclass"""	7837	protein-coding gene	gene with protein product		607808	"""NK-2 (Drosophila) homolog D"", ""NK2 transcription factor related, locus 4 (Drosophila)"""	NKX2D		1346742, 10818213	Standard	NM_033176		Approved	NKX2.4	uc010gcz.3	Q9H2Z4	OTTHUMG00000032022	ENST00000351817.4:c.687G>T	20.37:g.21376927C>A			21324927	Q5VZV8	Silent	SNP	superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1	p.T229	ENST00000351817.4	37	c.687	CCDS42855.1	20																																																																																			-	superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1		0.652	NKX2-4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NKX2-4	protein_coding	OTTHUMT00000078270.2	C			21324927	-1	no_errors	NM_033176	genbank	human	provisional	54_36p	silent	SNP	1.000	A
HERC2	8924	genome.wustl.edu	37	15	28474390	28474390	+	Silent	SNP	C	C	T			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr15:28474390C>T	ENST00000261609.7	-	34	5331	c.5223G>A	c.(5221-5223)caG>caA	p.Q1741Q		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TTCGAATGTTCTGTACAGCCC	0.373																																																0			15											135.0	147.0	143.0					15																	28474390		2203	4300	6503	26147985	SO:0001819	synonymous_variant	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.5223G>A	15.37:g.28474390C>T			26147985		Silent	SNP	superfamily_RCC1/BLIP-II,HMMPfam_RCC1,HMMSmart_SM00706,superfamily_Cytochrome b5-like heme/steroid binding domain,HMMPfam_Cyt-b5,HMMPfam_MIB_HERC2,HMMPfam_ZZ,HMMSmart_SM00291,PatternScan_ZF_ZZ_1,superfamily_Galactose-binding domain-like,PatternScan_PROTEIN_KINASE_ATP,PatternScan_RCC1_2,superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT	p.Q1741	ENST00000261609.7	37	c.5223	CCDS10021.1	15																																																																																			-	NULL		0.373	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	protein_coding	OTTHUMT00000251358.2	C	NM_004667		26147985	-1	no_errors	NM_004667	genbank	human	validated	54_36p	silent	SNP	1.000	T
DPYSL2	1808	genome.wustl.edu	37	8	26484731	26484731	+	Splice_Site	SNP	A	A	G			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr8:26484731A>G	ENST00000311151.5	+	6	953	c.541A>G	c.(541-543)Att>Gtt	p.I181V	DPYSL2_ENST00000521983.1_3'UTR|DPYSL2_ENST00000523027.1_Splice_Site_p.I145V|DPYSL2_ENST00000521913.1_Splice_Site_p.I145V	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	181					axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|olfactory bulb development (GO:0021772)|positive regulation of glutamate secretion (GO:0014049)|pyrimidine nucleobase catabolic process (GO:0006208)|regulation of neuron differentiation (GO:0045664)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|synaptic vesicle transport (GO:0048489)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	dihydropyrimidinase activity (GO:0004157)			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		TCTCTCTCAGATTTATGAAGT	0.488																																																0			8											112.0	105.0	107.0					8																	26484731		2203	4300	6503	26540648	SO:0001630	splice_region_variant	1808			D78013	CCDS6051.1, CCDS59096.1	8p22-p21	2011-09-28			ENSG00000092964	ENSG00000092964			3014	protein-coding gene	gene with protein product		602463				8973361	Standard	NM_001197293		Approved	DRP-2, DHPRP2, CRMP2, DRP2	uc003xfa.3	Q16555	OTTHUMG00000099439	ENST00000311151.5:c.541-1A>G	8.37:g.26484731A>G			26540648	A8K5H2|B4DR31|D3DSS7|O00424	Missense_Mutation	SNP	superfamily_Composite domain of metallo-dependent hydrolases,HMMPfam_Amidohydro_1,superfamily_Metallo-dependent hydrolases	p.I181V	ENST00000311151.5	37	c.541	CCDS6051.1	8	.	.	.	.	.	.	.	.	.	.	A	14.19	2.460895	0.43736	.	.	ENSG00000092964	ENST00000521913;ENST00000311151;ENST00000522745;ENST00000523027	D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62	5.58	5.58	0.84498	Amidohydrolase 1 (1);	0.121071	0.56097	D	0.000021	D	0.86335	0.5908	L	0.39692	1.235	0.50813	D	0.999898	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.08055	0.003;0.001;0.001	T	0.81688	-0.0819	9	.	.	.	-19.6557	15.7458	0.77939	1.0:0.0:0.0:0.0	.	181;181;237	Q53ET2;Q16555;Q59GB4	.;DPYL2_HUMAN;.	V	145;181;181;145	ENSP00000427985:I145V;ENSP00000309539:I181V;ENSP00000428909:I181V;ENSP00000431117:I145V	.	I	+	1	0	DPYSL2	26540648	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	3.798000	0.55522	2.111000	0.64477	0.533000	0.62120	ATT	-	superfamily_Composite domain of metallo-dependent hydrolases,HMMPfam_Amidohydro_1,superfamily_Metallo-dependent hydrolases		0.488	DPYSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYSL2	protein_coding	OTTHUMT00000216904.3	A	NM_001386	Missense_Mutation	26540648	+1	no_errors	NM_001386	genbank	human	validated	54_36p	missense	SNP	1.000	G
TRIM39	56658	genome.wustl.edu	37	6	30309877	30309877	+	Silent	SNP	C	C	T	rs140287492		TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr6:30309877C>T	ENST00000396547.1	+	8	1558	c.1398C>T	c.(1396-1398)gcC>gcT	p.A466A	TRIM39_ENST00000396551.3_Silent_p.A436A|TRIM39-RPP21_ENST00000513556.1_Intron|TRIM39_ENST00000376659.5_Silent_p.A436A|TRIM39_ENST00000540416.1_Silent_p.A436A|TRIM39_ENST00000376656.4_Silent_p.A466A|TRIM39_ENST00000396548.1_Silent_p.A436A			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39	466	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of apoptotic signaling pathway (GO:2001235)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						ACTATGAGGCCGGCACACTGT	0.483																																																0			6						C	,,	0,3022		0,0,1511	88.0	86.0	87.0		,1398,1308	0.6	1.0	6	dbSNP_134	87	1,5417		0,1,2708	no	intron,coding-synonymous,coding-synonymous	TRIM39,TRIM39-RPP21	NM_001199119.1,NM_021253.3,NM_172016.2	,,	0,1,4219	TT,TC,CC		0.0185,0.0,0.0118	,,	,466/519,436/489	30309877	1,8439	1511	2709	4220	30417856	SO:0001819	synonymous_variant	56658			BC034985	CCDS34377.1, CCDS34378.1	6p22.1	2013-01-09	2011-01-25	2002-06-07	ENSG00000204599	ENSG00000204599		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10065	protein-coding gene	gene with protein product		605700	"""ring finger protein 23"", ""tripartite motif-containing 39"""	RNF23		11006080	Standard	NM_021253		Approved			Q9HCM9	OTTHUMG00000031066	ENST00000396547.1:c.1398C>T	6.37:g.30309877C>T			30417856	Q5STG3|Q5STG4|Q76BL3|Q8IYT9|Q96IB6	Silent	SNP	superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_SM00336,HMMSmart_SM00589,HMMPfam_SPRY,HMMSmart_SM00449	p.A466	ENST00000396547.1	37	c.1398	CCDS34377.1	6																																																																																			-	HMMPfam_SPRY,HMMSmart_SM00449		0.483	TRIM39-002	KNOWN	basic|CCDS	protein_coding	TRIM39	protein_coding	OTTHUMT00000076086.2	C	NM_172016		30417856	+1	no_errors	NM_021253	genbank	human	reviewed	54_36p	silent	SNP	0.677	T
SUN5	140732	genome.wustl.edu	37	20	31590698	31590698	+	Silent	SNP	G	G	A			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr20:31590698G>A	ENST00000356173.3	-	2	197	c.105C>T	c.(103-105)agC>agT	p.S35S	SUN5_ENST00000375523.3_Silent_p.S35S|SUN5_ENST00000375519.2_Silent_p.S35S	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	35					spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						CTGCCATCCTGCTGGTGTTCC	0.522																																																0			20											125.0	116.0	119.0					20																	31590698		2203	4300	6503	31054359	SO:0001819	synonymous_variant	140732			AL121756	CCDS13209.1	20q11.21	2010-01-27	2010-01-27	2010-01-27	ENSG00000167098	ENSG00000167098			16252	protein-coding gene	gene with protein product	"""testis and spermatogenesis related gene 4"""	613942	"""sperm associated antigen 4-like"""	SPAG4L		9691178, 10373309	Standard	NM_080675		Approved	dJ726C3.1, TSARG4	uc002wyi.3	Q8TC36	OTTHUMG00000032239	ENST00000356173.3:c.105C>T	20.37:g.31590698G>A			31054359	A6NJ82|Q5T9R0	Silent	SNP	HMMPfam_Sad1_UNC	p.S35	ENST00000356173.3	37	c.105	CCDS13209.1	20																																																																																			-	NULL		0.522	SUN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG4L	protein_coding	OTTHUMT00000078659.1	G	NM_080675		31054359	-1	no_errors	NM_080675	genbank	human	validated	54_36p	silent	SNP	0.710	A
DMD	1756	genome.wustl.edu	37	X	31187671	31187671	+	Missense_Mutation	SNP	T	T	C	rs368594777		TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chrX:31187671T>C	ENST00000357033.4	-	74	10648	c.10442A>G	c.(10441-10443)cAg>cGg	p.Q3481R	DMD_ENST00000378680.2_Intron|DMD_ENST00000378702.4_Missense_Mutation_p.Q413R|DMD_ENST00000343523.2_Intron|DMD_ENST00000541735.1_Intron|DMD_ENST00000474231.1_Missense_Mutation_p.Q1021R|DMD_ENST00000378707.3_Missense_Mutation_p.Q1021R|DMD_ENST00000359836.1_Missense_Mutation_p.Q1008R|DMD_ENST00000378723.3_Missense_Mutation_p.Q413R|DMD_ENST00000378677.2_Missense_Mutation_p.Q3477R|DMD_ENST00000361471.4_Missense_Mutation_p.Q400R	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3481	Binds to SNTB1.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GGGGGAGTCCTGGTTCAAACT	0.448																																																0			X						T	ARG/GLN,ARG/GLN,ARG/GLN,ARG/GLN,ARG/GLN,ARG/GLN,ARG/GLN,ARG/GLN,ARG/GLN,ARG/GLN,ARG/GLN,ARG/GLN,ARG/GLN,ARG/GLN,ARG/GLN,,	0,3833		0,0,1631,571	51.0	45.0	47.0		10418,10442,10073,10430,10073,6419,6410,3062,2255,1238,1238,1199,1199,3062,3023,,	5.3	1.0	X		47	1,6727		0,1,2427,1872	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,intron,intron	DMD	NM_000109.3,NM_004006.2,NM_004007.2,NM_004009.3,NM_004010.3,NM_004011.3,NM_004012.3,NM_004013.2,NM_004014.2,NM_004015.2,NM_004016.2,NM_004017.2,NM_004018.2,NM_004021.2,NM_004022.2,NM_004020.3,NM_004023.2	43,43,43,43,43,43,43,43,43,43,43,43,43,43,43,,	0,1,4058,2443	CC,CT,TT,T		0.0149,0.0,0.0095	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,,	3473/3678,3481/3686,3358/3563,3477/3682,3358/3563,2140/2345,2137/2342,1021/1226,752/957,413/618,413/636,400/605,400/623,1021/1244,1008/1231,,	31187671	1,10560	2202	4300	6502	31097592	SO:0001583	missense	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.10442A>G	X.37:g.31187671T>C	ENSP00000354923:p.Gln3481Arg		31097592	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,HMMPfam_Spectrin,superfamily_Spectrin repeat,HMMSmart_SM00150,superfamily_t-snare proteins,superfamily_WW domain,HMMSmart_SM00456,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_EF-hand,HMMPfam_efhand_1,HMMPfam_efhand_2,HMMPfam_ZZ,HMMSmart_SM00291,PatternScan_ZF_ZZ_1,superfamily_Prefoldin	p.Q3481R	ENST00000357033.4	37	c.10442	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	T	19.40	3.820363	0.71028	0.0	1.49E-4	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378723;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000378702;ENST00000474231;ENST00000361471	D;D;D;D;D;D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7;-1.7;-1.7;-1.7;-1.7;-1.7	5.29	5.29	0.74685	.	0.000000	0.35615	U	0.003095	D	0.83358	0.5237	L	0.29908	0.895	0.80722	D	1	B;P;P;D;D;B;B;B;P;D;B;B;P	0.59357	0.037;0.842;0.842;0.985;0.985;0.13;0.08;0.08;0.508;0.957;0.002;0.001;0.92	B;B;B;P;P;B;B;B;B;B;B;B;B	0.59221	0.06;0.236;0.236;0.854;0.854;0.039;0.017;0.017;0.171;0.392;0.003;0.003;0.138	T	0.82476	-0.0438	9	.	.	.	.	14.3298	0.66548	0.0:0.0:0.0:1.0	.	3473;3481;3477;2140;2137;1008;1021;1021;3358;400;413;400;413	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;F5GZT3;P11532-5;Q8N754;Q6NSJ9;E9PDN1	.;DMD_HUMAN;.;.;.;.;.;.;.;.;.;.;.	R	3473;2140;2137;413;1164;3477;3481;1008;3481;3358;1021;413;1021;400	ENSP00000367997:Q413R;ENSP00000350765:Q1164R;ENSP00000367948:Q3477R;ENSP00000354923:Q3481R;ENSP00000352894:Q1008R;ENSP00000367979:Q1021R;ENSP00000367974:Q413R;ENSP00000417123:Q1021R;ENSP00000354464:Q400R	.	Q	-	2	0	DMD	31097592	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.127000	0.71642	1.960000	0.56953	0.481000	0.45027	CAG	-	NULL		0.448	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	protein_coding	OTTHUMT00000056182.2	T	NM_004006		31097592	-1	no_errors	NM_004006	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
ITGAD	3681	genome.wustl.edu	37	16	31409190	31409190	+	Silent	SNP	G	G	A			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr16:31409190G>A	ENST00000389202.2	+	5	436	c.387G>A	c.(385-387)tcG>tcA	p.S129S		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	129					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TGCTGGGCTCGCGCTGGGAGA	0.642																																																0			16											39.0	34.0	36.0					16																	31409190		2197	4300	6497	31316691	SO:0001819	synonymous_variant	3681			U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.387G>A	16.37:g.31409190G>A			31316691	Q15575|Q15576	Missense_Mutation	SNP	HMMSmart_SM00327,HMMPfam_VWA,superfamily_vWA-like	p.R35H	ENST00000389202.2	37	c.104	CCDS32438.1	16	.	.	.	.	.	.	.	.	.	.	G	4.454	0.084023	0.08583	.	.	ENSG00000156886	ENST00000316569	.	.	.	3.86	-3.43	0.04810	.	.	.	.	.	T	0.24044	0.0582	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.33904	-0.9850	5	0.48119	T	0.1	.	1.0023	0.01479	0.1408:0.2268:0.2866:0.3459	.	.	.	.	H	37	.	ENSP00000323325:R37H	R	+	2	0	ITGAD	31316691	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-0.048000	0.11944	-0.346000	0.08312	-1.303000	0.01326	CGC	-	HMMSmart_SM00327		0.642	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAD	protein_coding	OTTHUMT00000432836.1	G	NM_005353		31316691	+1	no_start_codon	ENST00000316569	ensembl	human	known	54_36p	missense	SNP	0.000	A
DXO	1797	genome.wustl.edu	37	6	31937743	31937743	+	Missense_Mutation	SNP	C	C	G			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr6:31937743C>G	ENST00000375349.3	-	7	1513	c.1102G>C	c.(1102-1104)Gat>Cat	p.D368H	STK19_ENST00000375331.2_5'Flank|STK19_ENST00000375333.2_5'Flank|DXO_ENST00000337523.5_Missense_Mutation_p.D368H|DXO_ENST00000375356.3_Missense_Mutation_p.D368H|DXO_ENST00000478221.1_5'UTR			O77932	DXO_HUMAN	decapping exoribonuclease	368					metabolic process (GO:0008152)|mRNA catabolic process (GO:0006402)|nuclear mRNA surveillance (GO:0071028)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA destabilization (GO:0050779)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|magnesium ion binding (GO:0000287)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA pyrophosphohydrolase activity (GO:0034353)										TAAGGTGCATCTTGGTGTACA	0.567																																																0			6											61.0	65.0	63.0					6																	31937743		2203	4300	6503	32045722	SO:0001583	missense	1797			AF059252	CCDS4732.1	6p21.3	2013-09-11	2013-09-11	2013-09-11	ENSG00000204348	ENSG00000204348			2992	protein-coding gene	gene with protein product		605996	"""DOM-3 (C. elegans) homolog Z"", ""dom-3 homolog Z (C. elegans)"""	DOM3Z		9799600, 23523372	Standard	NM_005510		Approved		uc003nyp.1	O77932	OTTHUMG00000031272	ENST00000375349.3:c.1102G>C	6.37:g.31937743C>G	ENSP00000364498:p.Asp368His		32045722	A2CER3|B0UZ80|O15004|O78127|O78128|Q5ST60|Q6IPZ2|Q9NPK4	Missense_Mutation	SNP	HMMPfam_RAI1	p.D368H	ENST00000375349.3	37	c.1102	CCDS4732.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.022066|4.022066	0.75275|0.75275	.|.	.|.	ENSG00000204348|ENSG00000204348	ENST00000337523;ENST00000375349;ENST00000375356|ENST00000495340	T;T;T|.	0.47869|.	0.83;0.83;0.83|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.497250|.	0.21586|.	N|.	0.072177|.	T|T	0.57489|0.57489	0.2057|0.2057	L|L	0.39898|0.39898	1.24|1.24	0.49299|0.49299	D|D	0.999775|0.999775	D|.	0.63880|.	0.993|.	P|.	0.45639|.	0.488|.	T|T	0.53315|0.53315	-0.8456|-0.8456	10|5	0.62326|.	D|.	0.03|.	-4.6596|-4.6596	18.576|18.576	0.91155|0.91155	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	368|.	O77932|.	DOM3Z_HUMAN|.	H|N	368|145	ENSP00000337759:D368H;ENSP00000364498:D368H;ENSP00000364505:D368H|.	ENSP00000337759:D368H|.	D|K	-|-	1|3	0|2	DOM3Z|DOM3Z	32045722|32045722	1.000000|1.000000	0.71417|0.71417	0.972000|0.972000	0.41901|0.41901	0.960000|0.960000	0.62799|0.62799	4.772000|4.772000	0.62324|0.62324	2.676000|2.676000	0.91093|0.91093	0.655000|0.655000	0.94253|0.94253	GAT|AAG	-	NULL		0.567	DXO-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	DOM3Z	protein_coding	OTTHUMT00000076592.3	C			32045722	-1	no_errors	NM_005510	genbank	human	reviewed	54_36p	missense	SNP	0.993	G
C4B	721	genome.wustl.edu	37	6	31995161	31995161	+	Missense_Mutation	SNP	T	T	C			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr6:31995161T>C	ENST00000435363.2	+	21	2825	c.2741T>C	c.(2740-2742)gTg>gCg	p.V914A	C4B_ENST00000425700.2_Missense_Mutation_p.V914A	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN	complement component 4B (Chido blood group)	914					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|detection of molecule of bacterial origin (GO:0032490)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|complement binding (GO:0001848)|endopeptidase inhibitor activity (GO:0004866)									Intravenous Immunoglobulin(DB00028)	CTGAAGGTGGTGGCTCGAGGG	0.642																																																0			6											9.0	18.0	16.0					6																	31995161		446	1431	1877	32103139	SO:0001583	missense	720			AF019413	CCDS47405.1	6p21.3	2014-09-17	2009-01-06		ENSG00000224389	ENSG00000224389		"""Blood group antigens"", ""Complement system"""	1324	protein-coding gene	gene with protein product		120820	"""complement component 4B"""				Standard	NM_001002029		Approved	CPAMD3, C4F, CO4, C4B1, C4B3, CH	uc011jpm.2	P0C0L5	OTTHUMG00000031187	ENST00000435363.2:c.2741T>C	6.37:g.31995161T>C	ENSP00000415941:p.Val914Ala		32103139	A2BHY4|P01028|P78445|Q13160|Q13906|Q14033|Q14835|Q6U2E9|Q6U2G1|Q6U2I5|Q6U2L1|Q6U2L7|Q6U2L9|Q6U2M5|Q6VCV8|Q96SA7|Q9NPK5|Q9UIP5	Missense_Mutation	SNP	HMMPfam_A2M_N,HMMPfam_A2M_N_2,superfamily_Anaphylatoxin,HMMPfam_ANATO,HMMSmart_ANATO,PatternScan_ANAPHYLATOXIN_1,HMMPfam_A2M,superfamily_Terp_cyc_toroid,HMMPfam_Thiol-ester_cl,PatternScan_ALPHA_2_MACROGLOBULIN,HMMPfam_A2M_comp,superfamily_AM_receptor_bind,HMMPfam_A2M_recep,HMMSmart_C345C,HMMPfam_NTR	p.V914A	ENST00000435363.2	37	c.2741	CCDS47405.1	6	.	.	.	.	.	.	.	.	.	.	t	15.75	2.924479	0.52653	.	.	ENSG00000224389	ENST00000435363;ENST00000425700	T;T	0.33865	1.39;1.42	4.77	4.77	0.60923	.	0.844961	0.10549	N	0.661677	T	0.21347	0.0514	M	0.67953	2.075	0.33956	D	0.645073	B;B	0.20887	0.02;0.049	B;B	0.22601	0.036;0.04	T	0.07404	-1.0774	10	0.27785	T	0.31	.	10.7152	0.46008	0.0:0.0:0.0:1.0	.	914;914	F5GXS0;Q6U2E9	.;.	A	914	ENSP00000415941:V914A;ENSP00000391933:V914A	ENSP00000391933:V914A	V	+	2	0	C4B	32103139	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.029000	0.41098	1.777000	0.52277	0.456000	0.33151	GTG	-	NULL		0.642	C4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4A	protein_coding	OTTHUMT00000076368.5	T	NM_001002029		32103139	+1	no_errors	NM_007293	genbank	human	reviewed	54_36p	missense	SNP	0.992	C
BSDC1	55108	genome.wustl.edu	37	1	32841929	32841929	+	Missense_Mutation	SNP	C	C	G			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr1:32841929C>G	ENST00000455895.2	-	9	1123	c.1090G>C	c.(1090-1092)Gac>Cac	p.D364H	BSDC1_ENST00000446293.2_Missense_Mutation_p.D381H|BSDC1_ENST00000413080.1_Missense_Mutation_p.D303H|BSDC1_ENST00000341071.7_Missense_Mutation_p.D381H|BSDC1_ENST00000463967.1_5'Flank|BSDC1_ENST00000449308.1_Missense_Mutation_p.D364H|BSDC1_ENST00000419121.2_Missense_Mutation_p.D308H|BSDC1_ENST00000526031.1_Missense_Mutation_p.D269H	NM_001143888.1|NM_018045.6	NP_001137360.1|NP_060515.3	Q9NW68	BSDC1_HUMAN	BSD domain containing 1	364										breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ACCCGTAAGTCTGTGGGCGCC	0.592																																																0			1											85.0	92.0	90.0					1																	32841929		2203	4300	6503	32614516	SO:0001583	missense	55108			BX641056	CCDS363.2, CCDS44101.1, CCDS44102.1, CCDS44103.1, CCDS72752.1	1p35.1	2008-02-05			ENSG00000160058	ENSG00000160058			25501	protein-coding gene	gene with protein product						12477932	Standard	XM_005270985		Approved	FLJ10276, RP4-811H24.7	uc010ohg.2	Q9NW68	OTTHUMG00000007588	ENST00000455895.2:c.1090G>C	1.37:g.32841929C>G	ENSP00000412173:p.Asp364His		32614516	B4DMS7|B4DTI7|B4DTP7|B4E2X8|Q49AT8|Q68DY6|Q6IAA3|Q6MZK1|Q6UXS1|Q9HAL9	Missense_Mutation	SNP	HMMPfam_BSD,HMMSmart_BSD	p.D381H	ENST00000455895.2	37	c.1141	CCDS363.2	1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.488400	0.84854	.	.	ENSG00000160058	ENST00000455895;ENST00000413080;ENST00000341071;ENST00000526031;ENST00000419121;ENST00000446293;ENST00000449308	.	.	.	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.77205	0.4096	M	0.63843	1.955	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.996;0.994;0.996;0.986	T	0.80027	-0.1554	9	0.87932	D	0	-20.9163	17.2978	0.87173	0.0:1.0:0.0:0.0	.	269;308;381;381;364	Q9NW68-9;Q9NW68-8;Q9NW68-7;Q9NW68-3;Q9NW68	.;.;.;.;BSDC1_HUMAN	H	364;303;381;269;308;381;364	.	ENSP00000344816:D381H	D	-	1	0	BSDC1	32614516	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.720000	0.84759	2.487000	0.83934	0.462000	0.41574	GAC	-	NULL		0.592	BSDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BSDC1	protein_coding	OTTHUMT00000020056.3	C	NM_018045		32614516	-1	no_errors	NM_018045	genbank	human	validated	54_36p	missense	SNP	1.000	G
KCNE1	3753	genome.wustl.edu	37	21	35821633	35821633	+	Silent	SNP	C	C	G			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr21:35821633C>G	ENST00000337385.3	-	3	675	c.300G>C	c.(298-300)ctG>ctC	p.L100L	KCNE1_ENST00000399286.2_Silent_p.L100L|KCNE1_ENST00000399289.3_Silent_p.L100L|KCNE1_ENST00000416357.2_Silent_p.L100L|KCNE1_ENST00000432085.1_Silent_p.L100L|KCNE1_ENST00000399284.1_Silent_p.L100L	NM_001270402.1|NM_001270403.1	NP_001257331.1|NP_001257332.1	P15382	KCNE1_HUMAN	potassium voltage-gated channel, Isk-related family, member 1	100					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular response to cAMP (GO:0071320)|membrane repolarization (GO:0086009)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|protein N-linked glycosylation (GO:0006487)|protein O-linked glycosylation (GO:0006493)|regulation of delayed rectifier potassium channel activity (GO:1902259)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	potassium channel regulator activity (GO:0015459)|telethonin binding (GO:0031433)|voltage-gated potassium channel activity (GO:0005249)			large_intestine(4)|lung(1)|ovary(2)	7					Indapamide(DB00808)	TGTAGCTCTCCAGGACCCGGG	0.557																																																0			21											111.0	118.0	115.0					21																	35821633		2203	4300	6503	34743503	SO:0001819	synonymous_variant	3753			L28168	CCDS13636.1	21q22.1-q22.2	2014-09-17			ENSG00000180509	ENSG00000180509		"""Potassium channels"""	6240	protein-coding gene	gene with protein product		176261				8432548	Standard	NM_001127670		Approved	minK, ISK, JLNS2, LQT5	uc010gmp.4	P15382	OTTHUMG00000086236	ENST00000337385.3:c.300G>C	21.37:g.35821633C>G			34743503	A5H1P2|Q8N709|Q91Z94	Silent	SNP	HMMPfam_ISK_Channel	p.L100	ENST00000337385.3	37	c.300	CCDS13636.1	21																																																																																			-	HMMPfam_ISK_Channel		0.557	KCNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNE1	protein_coding	OTTHUMT00000194155.1	C			34743503	-1	no_errors	NM_000219	genbank	human	reviewed	54_36p	silent	SNP	0.991	G
TLDC2	140711	genome.wustl.edu	37	20	35509093	35509093	+	Silent	SNP	C	C	G			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr20:35509093C>G	ENST00000217320.3	+	4	422	c.378C>G	c.(376-378)ctC>ctG	p.L126L	TLDC2_ENST00000602922.1_Silent_p.L126L	NM_080628.1	NP_542195.1	A0PJX2	TLDC2_HUMAN	TBC/LysM-associated domain containing 2	126	TLD.																CTATCCGACTCAGCAAAGGCT	0.552																																																0			20											168.0	144.0	152.0					20																	35509093		2203	4300	6503	34942507	SO:0001819	synonymous_variant	140711			AL079335	CCDS33465.1	20q11.23	2013-03-14	2013-03-14	2013-03-14	ENSG00000101342	ENSG00000101342			16112	protein-coding gene	gene with protein product	"""hypothetical protein LOC140711"", ""TLD domain containing 2"""		"""chromosome 20 open reading frame 118"""	C20orf118			Standard	NM_080628		Approved	dJ132F21.2	uc002xgg.1	A0PJX2	OTTHUMG00000032400	ENST00000217320.3:c.378C>G	20.37:g.35509093C>G			34942507	B3KVU8	Silent	SNP	HMMSmart_TLDc,HMMPfam_TLD	p.L126	ENST00000217320.3	37	c.378	CCDS33465.1	20																																																																																			-	HMMSmart_TLDc,HMMPfam_TLD		0.552	TLDC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf118	protein_coding	OTTHUMT00000079060.2	C	NM_080628		34942507	+1	no_errors	NM_080628	genbank	human	predicted	54_36p	silent	SNP	0.995	G
GPATCH1	55094	genome.wustl.edu	37	19	33608855	33608855	+	Missense_Mutation	SNP	G	G	C			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr19:33608855G>C	ENST00000170564.2	+	16	2635	c.2321G>C	c.(2320-2322)gGt>gCt	p.G774A		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	774					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GATGAGCAAGGTGACAGTGAA	0.537																																					Pancreas(67;88 1713 4567 18227)											0			19											96.0	83.0	87.0					19																	33608855		2203	4300	6503	38300695	SO:0001583	missense	55094			AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"""G patch domain containing"""	24658	protein-coding gene	gene with protein product	"""evolutionarily conserved G patch domain containing"""			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.2321G>C	19.37:g.33608855G>C	ENSP00000170564:p.Gly774Ala		38300695	Q8IZV6|Q8N3B7|Q9NW94	Missense_Mutation	SNP	HMMPfam_DUF1604,HMMSmart_G_patch,HMMPfam_G-patch	p.G774A	ENST00000170564.2	37	c.2321	CCDS12428.1	19	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.545384	0.00142	.	.	ENSG00000076650	ENST00000170564	T	0.10668	2.85	4.81	1.47	0.22746	.	0.629219	0.17476	N	0.172915	T	0.05593	0.0147	L	0.29908	0.895	0.09310	N	1	B;B	0.30406	0.07;0.278	B;B	0.22386	0.035;0.039	T	0.40553	-0.9557	10	0.10636	T	0.68	-7.0076	6.0958	0.20019	0.494:0.0:0.506:0.0	.	774;774	B2RDX4;Q9BRR8	.;GPTC1_HUMAN	A	774	ENSP00000170564:G774A	ENSP00000170564:G774A	G	+	2	0	GPATCH1	38300695	0.163000	0.22920	0.030000	0.17652	0.008000	0.06430	1.285000	0.33261	0.523000	0.28482	-0.222000	0.12452	GGT	-	NULL		0.537	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH1	protein_coding	OTTHUMT00000450834.1	G	NM_018025		38300695	+1	no_errors	NM_018025	genbank	human	provisional	54_36p	missense	SNP	0.492	C
SCN10A	6336	genome.wustl.edu	37	3	38793864	38793864	+	Missense_Mutation	SNP	C	C	T	rs147246725		TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr3:38793864C>T	ENST00000449082.2	-	11	1600	c.1601G>A	c.(1600-1602)cGg>cAg	p.R534Q		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	534					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CAGAGAGCCCCGATGGCTTTC	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		18016	0.0		0.0	False		,,,				2504	0.001															0			3						C	GLN/ARG	0,4406		0,0,2203	61.0	66.0	64.0		1601	2.1	0.0	3	dbSNP_134	64	1,8599	2.2+/-6.3	0,1,4299	no	missense	SCN10A	NM_006514.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	534/1957	38793864	1,13005	2203	4300	6503	38768868	SO:0001583	missense	6336			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.1601G>A	3.37:g.38793864C>T	ENSP00000390600:p.Arg534Gln		38768868	A6NDQ1	Missense_Mutation	SNP	superfamily_SSF81324,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc	p.R534Q	ENST00000449082.2	37	c.1601	CCDS33736.1	3	.	.	.	.	.	.	.	.	.	.	C	9.836	1.189632	0.21954	0.0	1.16E-4	ENSG00000185313	ENST00000449082	D	0.96459	-4.02	4.87	2.08	0.27032	.	0.455677	0.21429	N	0.074697	D	0.92586	0.7645	L	0.46157	1.445	0.09310	N	1	B	0.24768	0.111	B	0.12837	0.008	D	0.85460	0.1166	10	0.51188	T	0.08	.	8.9237	0.35628	0.0:0.7651:0.0:0.2349	.	534	Q9Y5Y9	SCNAA_HUMAN	Q	534	ENSP00000390600:R534Q	ENSP00000390600:R534Q	R	-	2	0	SCN10A	38768868	0.000000	0.05858	0.015000	0.15790	0.100000	0.18952	0.781000	0.26774	0.341000	0.23771	0.462000	0.41574	CGG	-	NULL		0.597	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN10A	protein_coding	OTTHUMT00000109745.3	C	NM_006514		38768868	-1	no_errors	NM_006514	genbank	human	validated	54_36p	missense	SNP	0.038	T
DAB2	1601	genome.wustl.edu	37	5	39383170	39383170	+	Silent	SNP	G	G	A			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr5:39383170G>A	ENST00000320816.6	-	10	1358	c.891C>T	c.(889-891)gaC>gaT	p.D297D	DAB2_ENST00000512525.1_5'Flank|DAB2_ENST00000339788.6_Intron|DAB2_ENST00000509337.1_Silent_p.D276D|DAB2_ENST00000545653.1_Silent_p.D276D	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	297	Required for localization to clathrin- coated pits. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			TGAAAGGATCGTCACGGAAAG	0.483																																																0			5											143.0	147.0	146.0					5																	39383170		2203	4300	6503	39418927	SO:0001819	synonymous_variant	1601			U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"""disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)"", ""disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"""			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.891C>T	5.37:g.39383170G>A			39418927	A6NES5|Q13598|Q9BTY0|Q9UK04	Silent	SNP	superfamily_PH domain-like,HMMSmart_SM00462,HMMPfam_PID,PatternScan_PFKB_KINASES_1	p.D297	ENST00000320816.6	37	c.891	CCDS34149.1	5																																																																																			-	NULL		0.483	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAB2	protein_coding	OTTHUMT00000367014.1	G	NM_001343		39418927	-1	no_errors	NM_001343	genbank	human	validated	54_36p	silent	SNP	0.912	A
RBM47	54502	genome.wustl.edu	37	4	40440207	40440207	+	Missense_Mutation	SNP	A	A	T			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr4:40440207A>T	ENST00000381793.2	-	3	1100	c.704T>A	c.(703-705)aTc>aAc	p.I235N	RBM47_ENST00000381795.6_Missense_Mutation_p.I235N|RBM47_ENST00000319592.4_Missense_Mutation_p.I235N|RBM47_ENST00000514014.1_Missense_Mutation_p.I197N|RBM47_ENST00000295971.7_Missense_Mutation_p.I235N|RBM47_ENST00000515809.1_Intron			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	235					hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GTCCACGTCGATCTCAGGTTC	0.637																																																0			4											108.0	88.0	95.0					4																	40440207		2203	4300	6503	40134964	SO:0001583	missense	54502			AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.704T>A	4.37:g.40440207A>T	ENSP00000371212:p.Ile235Asn		40134964	A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Missense_Mutation	SNP	superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1	p.I235N	ENST00000381793.2	37	c.704	CCDS43223.1	4	.	.	.	.	.	.	.	.	.	.	A	12.69	2.012289	0.35511	.	.	ENSG00000163694	ENST00000319592;ENST00000381793;ENST00000381795;ENST00000295971;ENST00000514014	T;T;T;T;T	0.15487	2.46;2.42;2.46;2.42;2.43	5.58	5.58	0.84498	.	0.044163	0.85682	D	0.000000	T	0.12390	0.0301	N	0.02802	-0.49	0.80722	D	1	P;B	0.42375	0.778;0.003	P;B	0.48454	0.578;0.029	T	0.42241	-0.9463	10	0.23891	T	0.37	-23.0426	15.7506	0.77983	1.0:0.0:0.0:0.0	.	235;235	A0AV96-2;A0AV96	.;RBM47_HUMAN	N	235;235;235;235;197	ENSP00000320108:I235N;ENSP00000371212:I235N;ENSP00000371214:I235N;ENSP00000295971:I235N;ENSP00000423243:I197N	ENSP00000295971:I235N	I	-	2	0	RBM47	40134964	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.270000	0.95690	2.125000	0.65367	0.379000	0.24179	ATC	-	NULL		0.637	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM47	protein_coding	OTTHUMT00000250456.2	A	NM_019027		40134964	-1	no_errors	NM_001098634	genbank	human	validated	54_36p	missense	SNP	1.000	T
SLC14A2	8170	genome.wustl.edu	37	18	43223964	43223964	+	Missense_Mutation	SNP	C	C	G			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr18:43223964C>G	ENST00000255226.6	+	10	2006	c.1190C>G	c.(1189-1191)cCa>cGa	p.P397R	SLC14A2_ENST00000586448.1_Missense_Mutation_p.P397R|RP11-116O18.1_ENST00000590535.1_RNA	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	397					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGCGTGCCACCAGGCACCTGG	0.567																																																0			18											146.0	144.0	145.0					18																	43223964		2203	4300	6503	41477962	SO:0001583	missense	8170			X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.1190C>G	18.37:g.43223964C>G	ENSP00000255226:p.Pro397Arg		41477962	A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	HMMPfam_UT,PatternScan_MULTICOPPER_OXIDASE1	p.P397R	ENST00000255226.6	37	c.1190	CCDS11924.1	18	.	.	.	.	.	.	.	.	.	.	C	18.31	3.594780	0.66219	.	.	ENSG00000132874	ENST00000255226	T	0.51071	0.72	5.56	4.7	0.59300	.	0.551643	0.19293	N	0.117860	T	0.47911	0.1471	M	0.65975	2.015	0.54753	D	0.999988	B	0.33826	0.427	B	0.37198	0.243	T	0.51419	-0.8708	10	0.72032	D	0.01	-0.0736	9.169	0.37069	0.0:0.7923:0.0:0.2077	.	397	Q15849	UT2_HUMAN	R	397	ENSP00000255226:P397R	ENSP00000255226:P397R	P	+	2	0	SLC14A2	41477962	0.084000	0.21492	0.757000	0.31301	0.995000	0.86356	2.932000	0.48940	1.367000	0.46095	0.655000	0.94253	CCA	-	HMMPfam_UT		0.567	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC14A2	protein_coding	OTTHUMT00000255858.1	C			41477962	+1	no_errors	NM_007163	genbank	human	validated	54_36p	missense	SNP	0.822	G
HIVEP3	59269	genome.wustl.edu	37	1	42048869	42048869	+	Missense_Mutation	SNP	G	G	T	rs150413814	byFrequency	TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr1:42048869G>T	ENST00000372583.1	-	4	2485	c.1600C>A	c.(1600-1602)Cct>Act	p.P534T	HIVEP3_ENST00000429157.2_Missense_Mutation_p.P534T|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P534T|HIVEP3_ENST00000372584.1_Missense_Mutation_p.P534T	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	534	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AGAGGCACAGGGGGGGCGGTA	0.592																																																0			1											44.0	56.0	52.0					1																	42048869		2203	4299	6502	41821456	SO:0001583	missense	59269			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.1600C>A	1.37:g.42048869G>T	ENSP00000361664:p.Pro534Thr		41821456	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	PatternScan_AIPM_HOMOCIT_SYNTH_1,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_C2H2 and C2HC zinc fingers	p.P534T	ENST00000372583.1	37	c.1600	CCDS463.1	1	.	.	.	.	.	.	.	.	.	.	G	8.670	0.902716	0.17760	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	4.76	4.76	0.60689	.	0.000000	0.51477	D	0.000082	T	0.13030	0.0316	N	0.15975	0.35	0.36541	D	0.87128	B;B	0.33022	0.394;0.274	B;B	0.30782	0.12;0.056	T	0.19353	-1.0308	10	0.12766	T	0.61	-10.603	10.7822	0.46384	0.0:0.0:0.6826:0.3174	.	534;534	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	T	534	ENSP00000361665:P534T;ENSP00000361664:P534T;ENSP00000247584:P534T;ENSP00000410828:P534T	ENSP00000247584:P534T	P	-	1	0	HIVEP3	41821456	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	3.086000	0.50159	2.478000	0.83669	0.561000	0.74099	CCT	-	NULL		0.592	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HIVEP3	protein_coding	OTTHUMT00000016978.1	G	NM_024503		41821456	-1	no_errors	NM_024503	genbank	human	validated	54_36p	missense	SNP	1.000	T
GLI3	2737	genome.wustl.edu	37	7	42006013	42006013	+	Silent	SNP	C	C	T	rs375355919		TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr7:42006013C>T	ENST00000395925.3	-	15	2742	c.2658G>A	c.(2656-2658)ccG>ccA	p.P886P	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	886					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TCACGTTCTGCGGCCGGCCCT	0.716									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																																							0			7											22.0	25.0	24.0					7																	42006013		2199	4297	6496	41972538	SO:0001819	synonymous_variant	2737	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.2658G>A	7.37:g.42006013C>T			41972538	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1	p.P886	ENST00000395925.3	37	c.2658	CCDS5465.1	7																																																																																			-	NULL		0.716	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI3	protein_coding	OTTHUMT00000250806.3	C	NM_000168		41972538	-1	no_errors	NM_000168	genbank	human	reviewed	54_36p	silent	SNP	0.998	T
SPG11	80208	genome.wustl.edu	37	15	44951409	44951409	+	Missense_Mutation	SNP	G	G	A			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr15:44951409G>A	ENST00000261866.7	-	3	551	c.535C>T	c.(535-537)Cct>Tct	p.P179S	SPG11_ENST00000535302.2_Missense_Mutation_p.P179S|SPG11_ENST00000558319.1_Missense_Mutation_p.P179S|SPG11_ENST00000559193.1_Missense_Mutation_p.P179S|SPG11_ENST00000427534.2_Missense_Mutation_p.P179S	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	179					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TCTCTTTCAGGAAATATAATA	0.383																																																0			15											109.0	109.0	109.0					15																	44951409		2198	4298	6496	42738701	SO:0001583	missense	80208				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.535C>T	15.37:g.44951409G>A	ENSP00000261866:p.Pro179Ser		42738701	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	PatternScan_GLYCOSYL_HYDROL_F1_1	p.P179S	ENST00000261866.7	37	c.535	CCDS10112.1	15	.	.	.	.	.	.	.	.	.	.	G	9.626	1.135031	0.21123	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.76448	-1.02;-0.77;-0.76	5.99	5.06	0.68205	.	0.339153	0.28225	N	0.016131	T	0.72179	0.3428	L	0.47716	1.5	0.30512	N	0.76935	B;B;B;B	0.32753	0.008;0.066;0.383;0.017	B;B;B;B	0.29716	0.019;0.073;0.106;0.023	T	0.73965	-0.3816	10	0.59425	D	0.04	-0.0767	15.2273	0.73361	0.0:0.14:0.8599:0.0	.	179;179;179;179	C4B7M2;F5H3N6;B9EK60;Q96JI7	.;.;.;SPTCS_HUMAN	S	179	ENSP00000261866:P179S;ENSP00000445278:P179S;ENSP00000396110:P179S	ENSP00000261866:P179S	P	-	1	0	SPG11	42738701	1.000000	0.71417	0.997000	0.53966	0.552000	0.35366	2.529000	0.45632	1.513000	0.48852	0.650000	0.86243	CCT	-	NULL		0.383	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPG11	protein_coding	OTTHUMT00000253927.1	G			42738701	-1	no_errors	NM_025137	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
GTF2F2	2963	genome.wustl.edu	37	13	45723918	45723918	+	Missense_Mutation	SNP	A	A	C			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr13:45723918A>C	ENST00000340473.6	+	3	295	c.154A>C	c.(154-156)Act>Cct	p.T52P		NM_004128.2	NP_004119.1	P13984	T2FB_HUMAN	general transcription factor IIF, polypeptide 2, 30kDa	52					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIF complex (GO:0005674)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|prostate(1)|upper_aerodigestive_tract(1)	10		Lung NSC(96;0.00115)|Prostate(109;0.00578)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000647)		TCAAGGAAGGACTGAGGTAAG	0.259																																																0			13											27.0	28.0	28.0					13																	45723918		2194	4282	6476	44621918	SO:0001583	missense	2963			X16901	CCDS9395.1	13q14	2012-01-23	2002-08-29		ENSG00000188342	ENSG00000188342		"""General transcription factors"""	4653	protein-coding gene	gene with protein product		189969	"""general transcription factor IIF, polypeptide 1 (74kD subunit)"""			8162052	Standard	NM_004128		Approved	TFIIF, BTF4, RAP30	uc001uzw.3	P13984	OTTHUMG00000016849	ENST00000340473.6:c.154A>C	13.37:g.45723918A>C	ENSP00000340823:p.Thr52Pro		44621918	A6NNS5|Q5W0H3	Missense_Mutation	SNP	superfamily_TFIIF_interactn,HMMPfam_TFIIF_beta,superfamily_SSF46785	p.T52P	ENST00000340473.6	37	c.154	CCDS9395.1	13	.	.	.	.	.	.	.	.	.	.	A	11.82	1.753349	0.31046	.	.	ENSG00000188342	ENST00000340473	.	.	.	5.82	5.82	0.92795	Transcription Factor IIF, Rap30/Rap74, interaction (1);	1.094760	0.06945	N	0.813511	T	0.56601	0.1996	L	0.37630	1.12	0.50813	D	0.999895	B	0.02656	0.0	B	0.09377	0.004	T	0.17992	-1.0351	9	0.25106	T	0.35	-1.6724	14.1246	0.65213	1.0:0.0:0.0:0.0	.	52	P13984	T2FB_HUMAN	P	52	.	ENSP00000340823:T52P	T	+	1	0	GTF2F2	44621918	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.424000	0.66464	2.232000	0.73038	0.482000	0.46254	ACT	-	superfamily_TFIIF_interactn,HMMPfam_TFIIF_beta		0.259	GTF2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2F2	protein_coding	OTTHUMT00000044767.2	A	NM_004128		44621918	+1	no_errors	NM_004128	genbank	human	validated	54_36p	missense	SNP	1.000	C
MAP4	4134	genome.wustl.edu	37	3	48040250	48040250	+	Missense_Mutation	SNP	A	A	C			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr3:48040250A>C	ENST00000360240.6	-	2	619	c.101T>G	c.(100-102)tTt>tGt	p.F34C	MAP4_ENST00000383737.4_Missense_Mutation_p.F34C|MAP4_ENST00000426837.2_Missense_Mutation_p.F34C|MAP4_ENST00000439356.1_Missense_Mutation_p.F34C|MAP4_ENST00000434267.1_Missense_Mutation_p.F34C|MAP4_ENST00000395734.3_Missense_Mutation_p.F34C	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	34					cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	AACATCATCAAAGGCCTCTGC	0.463																																																0			3											199.0	184.0	189.0					3																	48040250		2203	4300	6503	48015254	SO:0001583	missense	4134				CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.101T>G	3.37:g.48040250A>C	ENSP00000353375:p.Phe34Cys		48015254	Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Missense_Mutation	SNP	HMMPfam_Tubulin-binding,PatternScan_TAU_MAP	p.F34C	ENST00000360240.6	37	c.101	CCDS33750.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.06|15.06	2.720479|2.720479	0.48728|0.48728	.|.	.|.	ENSG00000047849|ENSG00000047849	ENST00000383737;ENST00000395734;ENST00000426837;ENST00000360240;ENST00000434267;ENST00000439356|ENST00000423088	T;T;T;T;T;T|.	0.34072|.	1.38;1.38;1.38;1.38;1.38;1.38|.	4.56|4.56	-5.2|-5.2	0.02823|0.02823	.|.	.|.	.|.	.|.	.|.	T|T	0.62454|0.62454	0.2429|0.2429	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.76494|.	0.999;0.973;0.996;0.995|.	P;P;P;P|.	0.59703|.	0.862;0.724;0.855;0.781|.	T|T	0.65611|0.65611	-0.6126|-0.6126	9|5	0.87932|.	D|.	0|.	-1.0438|-1.0438	12.0576|12.0576	0.53544|0.53544	0.1998:0.0:0.0:0.8002|0.1998:0.0:0.0:0.8002	.|.	34;34;34;34|.	C9JFC3;Q86V26;P27816-6;P27816|.	.;.;.;MAP4_HUMAN|.	C|V	34|41	ENSP00000373243:F34C;ENSP00000379083:F34C;ENSP00000407602:F34C;ENSP00000353375:F34C;ENSP00000402767:F34C;ENSP00000397414:F34C|.	ENSP00000353375:F34C|.	F|L	-|-	2|1	0|2	MAP4|MAP4	48015254|48015254	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.965000|0.965000	0.64279|0.64279	3.448000|3.448000	0.52943|0.52943	-0.457000|-0.457000	0.07033|0.07033	-0.691000|-0.691000	0.03719|0.03719	TTT|TTG	-	NULL		0.463	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP4	protein_coding	OTTHUMT00000346085.1	A	NM_002375		48015254	-1	no_errors	NM_002375	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
LHCGR	3973	genome.wustl.edu	37	2	48915091	48915091	+	Missense_Mutation	SNP	A	A	T			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr2:48915091A>T	ENST00000294954.7	-	11	1866	c.1845T>A	c.(1843-1845)aaT>aaA	p.N615K	STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.N588K|LHCGR_ENST00000344775.3_Missense_Mutation_p.N553K|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000401907.1_3'UTR	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	615					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	TGGCACAAGAATTGATGGGAT	0.388																																																0			2											81.0	86.0	84.0					2																	48915091		2203	4300	6503	48768595	SO:0001583	missense	3973				CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"""GPCR / Class A : Gonadotropin and TSH receptors"""	6585	protein-coding gene	gene with protein product		152790	"""hypergonadotropic hypogonadism"""	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.1845T>A	2.37:g.48915091A>T	ENSP00000294954:p.Asn615Lys		48768595	Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	superfamily_L domain-like,superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.N615K	ENST00000294954.7	37	c.1845	CCDS1842.1	2	.	.	.	.	.	.	.	.	.	.	A	17.92	3.506147	0.64410	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626	D;D;D	0.94793	-3.52;-3.52;-3.52	5.92	3.6	0.41247	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.97679	0.9239	H	0.97587	4.035	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96132	0.9093	9	.	.	.	.	4.5472	0.12087	0.6008:0.0:0.3991:0.0	.	615	P22888	LSHR_HUMAN	K	553;615;588	ENSP00000344301:N553K;ENSP00000294954:N615K;ENSP00000386033:N588K	.	N	-	3	2	LHCGR	48768595	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.810000	0.47979	1.079000	0.41038	0.477000	0.44152	AAT	-	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1		0.388	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHCGR	protein_coding	OTTHUMT00000251364.4	A	NM_000233.3		48768595	-1	no_errors	NM_000233	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
LOC440040	440040	genome.wustl.edu	37	11	49597897	49597897	+	RNA	SNP	G	G	T	rs267602931		TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr11:49597897G>T	ENST00000527477.1	+	0	501																											CATGCTGGGTGACATCATTAT	0.498																																																0			11																																								49554473			0																															11.37:g.49597897G>T			49554473		Missense_Mutation	SNP	superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor	p.D34Y	ENST00000527477.1	37	c.100		11																																																																																			-	superfamily_Periplasmic binding protein-like I		0.498	RP11-707M1.1-003	KNOWN	basic	processed_transcript	ENSG00000205035	pseudogene	OTTHUMT00000391378.2	G			49554473	+1	no_start_codon:no_stop_codon	ENST00000357667	ensembl	human	novel	54_36p	missense	SNP	1.000	T
TSHZ2	128553	genome.wustl.edu	37	20	51873061	51873061	+	Missense_Mutation	SNP	G	G	A	rs200855096		TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr20:51873061G>A	ENST00000371497.5	+	2	3951	c.3064G>A	c.(3064-3066)Gaa>Aaa	p.E1022K	TSHZ2_ENST00000603338.2_Missense_Mutation_p.E1019K|TSHZ2_ENST00000329613.6_Missense_Mutation_p.E1019K|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	1022					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E1022K(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CAAGTCACCCGAACACCATTC	0.463																																																1	Substitution - Missense(1)	skin(1)	20											130.0	122.0	125.0					20																	51873061		2203	4300	6503	51306468	SO:0001583	missense	128553			AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.3064G>A	20.37:g.51873061G>A	ENSP00000360552:p.Glu1022Lys		51306468	B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	PatternScan_HOMEOBOX_1,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_HOX,HMMPfam_Homeobox,HMMPfam_zf-C2H2	p.E1022K	ENST00000371497.5	37	c.3064	CCDS33490.1	20	.	.	.	.	.	.	.	.	.	.	G	32	5.125562	0.94429	.	.	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.21543	2.01;2.0	5.53	5.53	0.82687	Zinc finger, C2H2 (1);	0.047315	0.85682	D	0.000000	T	0.47395	0.1443	M	0.80028	2.48	0.80722	D	1	D	0.71674	0.998	P	0.58391	0.838	T	0.51710	-0.8671	10	0.87932	D	0	-30.2972	19.4601	0.94914	0.0:0.0:1.0:0.0	.	1022	Q9NRE2	TSH2_HUMAN	K	1022;1019	ENSP00000360552:E1022K;ENSP00000333114:E1019K	ENSP00000333114:E1019K	E	+	1	0	TSHZ2	51306468	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.470000	0.97683	2.603000	0.88011	0.643000	0.83706	GAA	-	NULL		0.463	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ2	protein_coding	OTTHUMT00000080398.6	G	NM_173485		51306468	+1	no_errors	NM_173485	genbank	human	validated	54_36p	missense	SNP	1.000	A
SOAT2	8435	genome.wustl.edu	37	12	53509382	53509382	+	Missense_Mutation	SNP	G	G	A			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr12:53509382G>A	ENST00000301466.3	+	6	712	c.652G>A	c.(652-654)Gtg>Atg	p.V218M		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	218					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|intestinal cholesterol absorption (GO:0030299)|macrophage derived foam cell differentiation (GO:0010742)|very-low-density lipoprotein particle assembly (GO:0034379)	brush border (GO:0005903)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|transferase activity, transferring acyl groups (GO:0016746)			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18					Hesperetin(DB01094)	GCCGGTCCACGTGGCCGTGGA	0.716																																																0			12											12.0	13.0	13.0					12																	53509382		2199	4278	6477	51795649	SO:0001583	missense	8435			AF059203	CCDS8847.1	12q13.13	2012-09-20			ENSG00000167780	ENSG00000167780	2.3.1.26		11178	protein-coding gene	gene with protein product		601311				9756920	Standard	NM_003578		Approved	ACAT2	uc001sbv.3	O75908	OTTHUMG00000169774	ENST00000301466.3:c.652G>A	12.37:g.53509382G>A	ENSP00000301466:p.Val218Met		51795649	F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2	Missense_Mutation	SNP	HMMPfam_MBOAT	p.V218M	ENST00000301466.3	37	c.652	CCDS8847.1	12	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509372	0.64522	.	.	ENSG00000167780	ENST00000301466	T	0.20463	2.07	5.46	3.63	0.41609	.	0.128925	0.51477	N	0.000099	T	0.20373	0.0490	M	0.71206	2.165	0.50313	D	0.99986	P	0.36768	0.569	B	0.30495	0.116	T	0.02691	-1.1123	9	.	.	.	-24.5145	9.4706	0.38839	0.232:0.0:0.768:0.0	.	218	O75908	SOAT2_HUMAN	M	218	ENSP00000301466:V218M	.	V	+	1	0	SOAT2	51795649	0.275000	0.24201	0.684000	0.30055	0.488000	0.33401	0.292000	0.19011	0.799000	0.34018	0.655000	0.94253	GTG	-	HMMPfam_MBOAT		0.716	SOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOAT2	protein_coding	OTTHUMT00000405817.1	G			51795649	+1	no_errors	NM_003578	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
PRKD2	25865	genome.wustl.edu	37	19	47197271	47197271	+	Silent	SNP	G	G	A			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr19:47197271G>A	ENST00000291281.4	-	10	1662	c.1437C>T	c.(1435-1437)ggC>ggT	p.G479G	PRKD2_ENST00000595515.1_Silent_p.G479G|PRKD2_ENST00000600194.1_Silent_p.G322G|PRKD2_ENST00000433867.1_Silent_p.G479G|PRKD2_ENST00000601806.1_Silent_p.G322G			Q9BZL6	KPCD2_HUMAN	protein kinase D2	479	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CAGGCATCTCGCCCACGAAGT	0.677																																																0			19											62.0	52.0	56.0					19																	47197271		2203	4300	6503	51889111	SO:0001819	synonymous_variant	25865			AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.1437C>T	19.37:g.47197271G>A			51889111	Q8TB08|Q9P0T6|Q9Y3X8	Silent	SNP	superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST	p.G479	ENST00000291281.4	37	c.1437	CCDS12689.1	19																																																																																			-	superfamily_PH domain-like,HMMSmart_SM00233		0.677	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKD2	protein_coding	OTTHUMT00000466591.1	G	NM_016457		51889111	-1	no_errors	NM_001079880	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
DNAH12	201625	genome.wustl.edu	37	3	57505720	57505720	+	Intron	SNP	G	G	A			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr3:57505720G>A	ENST00000351747.2	-	4	460				DNAH12_ENST00000311202.6_Intron|DNAH12_ENST00000389536.4_Intron	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12						microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						GTTCCTCGCCGTCTTCCACGT	0.632																																																0			3																																								57480760	SO:0001627	intron_variant	0			U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"""Axonemal dyneins"""	2943	protein-coding gene	gene with protein product		603340	"""dynein, axonemal, heavy polypeptide 12"", ""dynein heavy chain domain 2"", ""dynein heavy domain 2"", ""dynein, axonemal, heavy chain 12-like"", ""dynein, axonemal, heavy chain 7-like"""	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.279+3589C>T	3.37:g.57505720G>A			57480760	A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	RNA	SNP	-	NULL	ENST00000351747.2	37	NULL		3																																																																																			-	-		0.632	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	LOC100128353	protein_coding		G	NM_178504		57480760	-1	pseudogene	XR_039610	genbank	human	model	54_36p	rna	SNP	1.000	A
TLN2	83660	genome.wustl.edu	37	15	62948201	62948201	+	Silent	SNP	G	G	A			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr15:62948201G>A	ENST00000561311.1	+	7	806	c.576G>A	c.(574-576)acG>acA	p.T192T	TLN2_ENST00000306829.6_Silent_p.T192T			Q9Y4G6	TLN2_HUMAN	talin 2	192	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AAAACGAAACGTTGCTGCTTA	0.403																																																0			15											122.0	102.0	109.0					15																	62948201		2203	4300	6503	60735493	SO:0001819	synonymous_variant	83660			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.576G>A	15.37:g.62948201G>A			60735493	A6NLB8	Silent	SNP	PatternScan_FERM_1,HMMSmart_B41,HMMPfam_FERM_N,superfamily_FERM_3-hlx,HMMPfam_FERM_M,PatternScan_FERM_2,superfamily_SSF50729,superfamily_Talin_cent,HMMPfam_Talin_middle,superfamily_SSF109885,HMMPfam_VBS,HMMSmart_ILWEQ,HMMPfam_I_LWEQ	p.T192	ENST00000561311.1	37	c.576	CCDS32261.1	15																																																																																			-	HMMSmart_B41,HMMPfam_FERM_N		0.403	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN2	protein_coding	OTTHUMT00000257878.2	G			60735493	+1	no_errors	NM_015059	genbank	human	reviewed	54_36p	silent	SNP	0.690	A
GAL3ST3	89792	genome.wustl.edu	37	11	65810697	65810697	+	Missense_Mutation	SNP	C	C	T			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr11:65810697C>T	ENST00000312006.4	-	3	858	c.577G>A	c.(577-579)Gct>Act	p.A193T	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.A193T	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	193					monosaccharide metabolic process (GO:0005996)|oligosaccharide metabolic process (GO:0009311)|poly-N-acetyllactosamine metabolic process (GO:0030309)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|carbohydrate binding (GO:0030246)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			kidney(1)|lung(9)|ovary(2)|skin(2)	14						TGCTCGCCAGCGCGGTAGTAT	0.687																																																0			11											35.0	38.0	37.0					11																	65810697		2201	4294	6495	65567273	SO:0001583	missense	89792			AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229		"""Sulfotransferases, membrane-bound"""	24144	protein-coding gene	gene with protein product		608234				11323440, 11356829	Standard	NM_033036		Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.577G>A	11.37:g.65810697C>T	ENSP00000308591:p.Ala193Thr		65567273	Q14D05	Missense_Mutation	SNP	HMMPfam_Gal-3-0_sulfotr	p.A193T	ENST00000312006.4	37	c.577	CCDS8128.1	11	.	.	.	.	.	.	.	.	.	.	C	17.38	3.375872	0.61735	.	.	ENSG00000175229	ENST00000312006;ENST00000527878	D;D	0.99727	-6.55;-6.55	4.51	2.32	0.28847	.	0.218626	0.37715	N	0.001966	D	0.97368	0.9139	N	0.19112	0.55	0.32922	D	0.515914	P	0.51653	0.947	B	0.37480	0.251	D	0.99954	1.1601	10	0.13108	T	0.6	-15.6084	11.79	0.52063	0.0:0.4154:0.5846:0.0	.	193	Q96A11	G3ST3_HUMAN	T	193	ENSP00000308591:A193T;ENSP00000434829:A193T	ENSP00000308591:A193T	A	-	1	0	GAL3ST3	65567273	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	2.427000	0.44740	0.977000	0.38444	0.561000	0.74099	GCT	-	HMMPfam_Gal-3-0_sulfotr		0.687	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAL3ST3	protein_coding	OTTHUMT00000391052.1	C	NM_033036		65567273	-1	no_errors	NM_033036	genbank	human	reviewed	54_36p	missense	SNP	0.972	T
MTL5	9633	genome.wustl.edu	37	11	68514684	68514684	+	Missense_Mutation	SNP	T	T	A			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr11:68514684T>A	ENST00000255087.5	-	3	805	c.622A>T	c.(622-624)Aac>Tac	p.N208Y	MTL5_ENST00000544963.1_Missense_Mutation_p.N208Y|MTL5_ENST00000443940.2_Missense_Mutation_p.N208Y|MTL5_ENST00000540869.1_5'UTR	NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	208					cell differentiation (GO:0030154)|cellular metal ion homeostasis (GO:0006875)|multicellular organismal development (GO:0007275)|response to metal ion (GO:0010038)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			ACCATTGGGTTGGAATCTTTC	0.413																																																0			11											140.0	131.0	134.0					11																	68514684		2200	4294	6494	68271260	SO:0001583	missense	9633			U86074	CCDS8184.1, CCDS44661.1	11q13.2-q13.3	2007-01-03			ENSG00000132749	ENSG00000132749			7446	protein-coding gene	gene with protein product	"""CXC domain containing 2"""	604374				1091092	Standard	XR_428932		Approved	CXCDC2	uc001ooc.3	Q9Y4I5	OTTHUMG00000167891	ENST00000255087.5:c.622A>T	11.37:g.68514684T>A	ENSP00000255087:p.Asn208Tyr		68271260	A8K8J3|Q4G182|Q6P2E2|Q8NCC8	Missense_Mutation	SNP	HMMPfam_CXC	p.N208Y	ENST00000255087.5	37	c.622	CCDS8184.1	11	.	.	.	.	.	.	.	.	.	.	T	17.92	3.506093	0.64410	.	.	ENSG00000132749	ENST00000255087;ENST00000443940;ENST00000544963	T;T;T	0.51071	1.36;0.72;1.32	5.1	5.1	0.69264	.	0.190980	0.37304	N	0.002155	T	0.55305	0.1912	L	0.32530	0.975	0.26533	N	0.97422	D;D;D	0.76494	0.999;0.99;0.989	D;D;P	0.66847	0.947;0.912;0.726	T	0.50816	-0.8783	10	0.49607	T	0.09	-13.729	13.2493	0.60041	0.0:0.0:0.0:1.0	.	208;191;208	Q9Y4I5-3;Q6PHY4;Q9Y4I5	.;.;MTL5_HUMAN	Y	208	ENSP00000255087:N208Y;ENSP00000403086:N208Y;ENSP00000440968:N208Y	ENSP00000255087:N208Y	N	-	1	0	MTL5	68271260	0.529000	0.26322	0.735000	0.30896	0.682000	0.39822	4.081000	0.57627	2.145000	0.66743	0.459000	0.35465	AAC	-	NULL		0.413	MTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTL5	protein_coding	OTTHUMT00000396844.1	T	NM_004923		68271260	-1	no_errors	NM_004923	genbank	human	reviewed	54_36p	missense	SNP	0.760	A
IGHMBP2	3508	genome.wustl.edu	37	11	68707039	68707039	+	Missense_Mutation	SNP	G	G	A	rs373408947		TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr11:68707039G>A	ENST00000255078.3	+	15	2933	c.2822G>A	c.(2821-2823)cGg>cAg	p.R941Q	RP11-757G1.5_ENST00000542410.1_RNA	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	941					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCCCATGCCCGGCAGAGAATC	0.647																																																0			11						G	GLN/ARG	0,4400		0,0,2200	30.0	35.0	34.0		2822	4.5	1.0	11		34	1,8587	1.2+/-3.3	0,1,4293	no	missense	IGHMBP2	NM_002180.2	43	0,1,6493	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	941/994	68707039	1,12987	2200	4294	6494	68463615	SO:0001583	missense	3508			L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"""Zinc fingers, AN1-type domain containing"""	5542	protein-coding gene	gene with protein product	"""cardiac transcription factor 1"", ""zinc finger, AN1-type domain 7"""	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.2822G>A	11.37:g.68707039G>A	ENSP00000255078:p.Arg941Gln		68463615	A0PJD2|Q00443|Q14177	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMSmart_SM00382,HMMSmart_SM00393,superfamily_R3H domain,HMMPfam_R3H,HMMSmart_SM00154	p.R941Q	ENST00000255078.3	37	c.2822	CCDS8187.1	11	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785204	0.90282	0.0	1.16E-4	ENSG00000132740	ENST00000255078	T	0.48201	0.82	4.54	4.54	0.55810	Zinc finger, AN1-type (1);	0.075178	0.53938	D	0.000049	T	0.67107	0.2858	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.72017	-0.4417	10	0.87932	D	0	-1.6158	16.0442	0.80707	0.0:0.0:1.0:0.0	.	941	P38935	SMBP2_HUMAN	Q	941	ENSP00000255078:R941Q	ENSP00000255078:R941Q	R	+	2	0	IGHMBP2	68463615	1.000000	0.71417	0.998000	0.56505	0.672000	0.39443	8.971000	0.93419	2.054000	0.61138	0.491000	0.48974	CGG	-	NULL		0.647	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGHMBP2	protein_coding	OTTHUMT00000396862.1	G	NM_002180		68463615	+1	no_errors	NM_002180	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
HYDIN	54768	genome.wustl.edu	37	16	71096188	71096188	+	Missense_Mutation	SNP	C	C	A	rs548973496		TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr16:71096188C>A	ENST00000393567.2	-	17	2410	c.2260G>T	c.(2260-2262)Ggg>Tgg	p.G754W	HYDIN_ENST00000538248.1_Missense_Mutation_p.G781W|HYDIN_ENST00000448691.1_Missense_Mutation_p.G754W|HYDIN_ENST00000541601.1_Missense_Mutation_p.G771W|HYDIN_ENST00000448089.2_Missense_Mutation_p.G754W|HYDIN_ENST00000321489.5_Missense_Mutation_p.G754W	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	754					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GAGATGACCCCGCTGGGGGTG	0.557																																																0			16											7.0	7.0	7.0					16																	71096188		2184	4263	6447	69653689	SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.2260G>T	16.37:g.71096188C>A	ENSP00000377197:p.Gly754Trp		69653689	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_PapD-like,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.G754W	ENST00000393567.2	37	c.2260	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	C	13.66	2.302500	0.40795	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489;ENST00000538248;ENST00000541601	T;T;T;T;T;T	0.20200	2.09;2.09;2.09;2.09;2.09;2.09	4.88	4.88	0.63580	.	0.000000	0.33253	U	0.005106	T	0.52058	0.1711	M	0.84948	2.725	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.998	T	0.60762	-0.7199	10	0.72032	D	0.01	.	16.8303	0.85942	0.0:1.0:0.0:0.0	.	781;771;754;754	B4DRN4;F5H6V3;Q4G0P3-5;F8WD23	.;.;.;.	W	754;754;754;754;754;781;771	ENSP00000377197:G754W;ENSP00000398544:G754W;ENSP00000394826:G754W;ENSP00000314736:G754W;ENSP00000444970:G781W;ENSP00000437341:G771W	ENSP00000313052:G754W	G	-	1	0	HYDIN	69653689	0.999000	0.42202	0.026000	0.17262	0.001000	0.01503	6.129000	0.71657	2.254000	0.74563	0.609000	0.83330	GGG	-	NULL		0.557	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	protein_coding	OTTHUMT00000398624.3	C			69653689	-1	no_errors	NM_032821	genbank	human	validated	54_36p	missense	SNP	0.668	A
GDPD4	220032	genome.wustl.edu	37	11	76979561	76979561	+	Missense_Mutation	SNP	C	C	T			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr11:76979561C>T	ENST00000376217.2	-	9	898	c.648G>A	c.(646-648)atG>atA	p.M216I	GDPD4_ENST00000315938.4_Missense_Mutation_p.M216I|GDPD4_ENST00000527489.1_5'Flank			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	216	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						TCTCAAAGGACATCATGGTAT	0.493																																																0			11											182.0	178.0	180.0					11																	76979561		2200	4292	6492	76657209	SO:0001583	missense	220032			AY326450	CCDS8249.1	11q13.5	2008-02-05			ENSG00000178795	ENSG00000178795			24849	protein-coding gene	gene with protein product							Standard	NM_182833		Approved	GDE6	uc001oyf.3	Q6W3E5	OTTHUMG00000165136	ENST00000376217.2:c.648G>A	11.37:g.76979561C>T	ENSP00000365390:p.Met216Ile		76657209	Q7Z5B0	Missense_Mutation	SNP	superfamily_PLC-like_Pdiesterase_TIM-brl,HMMPfam_GDPD	p.M216I	ENST00000376217.2	37	c.648		11	.	.	.	.	.	.	.	.	.	.	C	21.4	4.150662	0.78001	.	.	ENSG00000178795	ENST00000376217;ENST00000315938	T;T	0.29142	1.58;1.58	4.68	4.68	0.58851	.	0.038769	0.85682	D	0.000000	T	0.24547	0.0595	L	0.29908	0.895	0.36785	D	0.884531	P	0.48294	0.908	B	0.40677	0.337	T	0.20371	-1.0277	10	0.48119	T	0.1	-29.7739	14.98	0.71303	0.0:1.0:0.0:0.0	.	216	Q6W3E5-2	.	I	216	ENSP00000365390:M216I;ENSP00000320815:M216I	ENSP00000320815:M216I	M	-	3	0	GDPD4	76657209	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.556000	0.53734	2.595000	0.87683	0.591000	0.81541	ATG	-	superfamily_PLC-like_Pdiesterase_TIM-brl,HMMPfam_GDPD		0.493	GDPD4-002	KNOWN	basic|appris_candidate_longest	protein_coding	GDPD4	protein_coding	OTTHUMT00000382075.1	C	NM_182833		76657209	-1	no_errors	NM_182833	genbank	human	provisional	54_36p	missense	SNP	1.000	T
POMT2	29954	genome.wustl.edu	37	14	77746808	77746808	+	Splice_Site	SNP	T	T	A			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr14:77746808T>A	ENST00000261534.4	-	16	1856		c.e16-2			NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		ACTGTTCCCCTGCATGAAGGT	0.537																																																0			14											151.0	133.0	139.0					14																	77746808		2203	4300	6503	76816561	SO:0001630	splice_region_variant	29954			AF105020	CCDS9857.1	14q24	2014-09-17			ENSG00000009830	ENSG00000009830	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	19743	protein-coding gene	gene with protein product		607439				11162531, 12460945	Standard	NM_013382		Approved	LGMD2N	uc001xti.2	Q9UKY4	OTTHUMG00000171556	ENST00000261534.4:c.1654-2A>T	14.37:g.77746808T>A			76816561	Q9NSG6|Q9P1W0|Q9P1W2	Splice_Site	SNP	-	e16-2	ENST00000261534.4	37	c.1654-2	CCDS9857.1	14	.	.	.	.	.	.	.	.	.	.	T	17.90	3.502648	0.64298	.	.	ENSG00000009830	ENST00000261534;ENST00000556171	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5885	0.76506	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	POMT2	76816561	1.000000	0.71417	0.975000	0.42487	0.702000	0.40608	6.031000	0.70911	2.089000	0.63090	0.460000	0.39030	.	-	-		0.537	POMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POMT2	protein_coding	OTTHUMT00000414155.1	T	NM_013382	Intron	76816561	-1	no_errors	NM_013382	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	A
AP3B1	8546	genome.wustl.edu	37	5	77524010	77524010	+	Missense_Mutation	SNP	A	A	T			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr5:77524010A>T	ENST00000255194.6	-	4	508	c.333T>A	c.(331-333)gaT>gaA	p.D111E	AP3B1_ENST00000519295.1_Missense_Mutation_p.D62E	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	111					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		GGAGTGCAAGATCCTGCTGTT	0.368									Hermansky-Pudlak syndrome																																							0			5											104.0	99.0	101.0					5																	77524010		2203	4300	6503	77559766	SO:0001583	missense	8546	Familial Cancer Database	HPS, HPS1-8	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.333T>A	5.37:g.77524010A>T	ENSP00000255194:p.Asp111Glu		77559766	E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	HMMPfam_Adaptin_N,superfamily_ARM repeat	p.D111E	ENST00000255194.6	37	c.333	CCDS4041.1	5	.	.	.	.	.	.	.	.	.	.	A	16.72	3.201195	0.58234	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760	T;T	0.74632	-0.86;-0.86	5.48	1.85	0.25348	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.095273	0.64402	N	0.000001	T	0.67353	0.2884	L	0.56124	1.755	0.51482	D	0.999927	B	0.22080	0.064	B	0.25140	0.058	T	0.62196	-0.6905	10	0.87932	D	0	-17.7683	8.874	0.35334	0.6043:0.0:0.3957:0.0	.	111	O00203	AP3B1_HUMAN	E	111;62;111	ENSP00000255194:D111E;ENSP00000430597:D62E	ENSP00000255194:D111E	D	-	3	2	AP3B1	77559766	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.419000	0.34793	0.144000	0.18951	0.472000	0.43445	GAT	-	HMMPfam_Adaptin_N,superfamily_ARM repeat		0.368	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3B1	protein_coding	OTTHUMT00000225548.2	A			77559766	-1	no_errors	NM_003664	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
ZSCAN2	54993	genome.wustl.edu	37	15	85165241	85165241	+	Missense_Mutation	SNP	G	G	C			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr15:85165241G>C	ENST00000448803.2	+	3	2107	c.1815G>C	c.(1813-1815)caG>caC	p.Q605H	ZSCAN2_ENST00000358472.3_Missense_Mutation_p.Q455H|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000546148.1_Missense_Mutation_p.Q605H|ZSCAN2_ENST00000327179.6_Missense_Mutation_p.Q604H|ZSCAN2_ENST00000541040.1_Intron	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	605					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|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)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		TCACACATCAGAGAACTCACA	0.488																																																0			15											58.0	63.0	62.0					15																	85165241		2203	4299	6502	82966245	SO:0001583	missense	54993			BC041620	CCDS10329.2, CCDS32315.1, CCDS32316.1	15q25.2	2013-01-08	2004-11-01	2004-11-02	ENSG00000176371	ENSG00000176371		"""-"", ""Zinc fingers, C2H2-type"""	20994	protein-coding gene	gene with protein product			"""zinc finger protein 29"""	ZFP29		1937051	Standard	NM_017894		Approved	FLJ20595, ZNF854	uc002bkr.3	Q7Z7L9	OTTHUMG00000074027	ENST00000448803.2:c.1815G>C	15.37:g.85165241G>C	ENSP00000410198:p.Gln605His		82966245	A6NG83|B2RMQ9|Q6ZQY9|Q9NWU4	Missense_Mutation	SNP	HMMPfam_SCAN,HMMSmart_SM00431,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1	p.Q605H	ENST00000448803.2	37	c.1815	CCDS10329.2	15	.	.	.	.	.	.	.	.	.	.	G	17.02	3.281656	0.59758	.	.	ENSG00000176371	ENST00000448803;ENST00000546148;ENST00000358472;ENST00000327179;ENST00000379353	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.04	4.06	0.47325	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.141093	0.34435	N	0.003974	T	0.44477	0.1295	L	0.56396	1.775	0.80722	D	1	D;P	0.76494	0.999;0.941	P;B	0.59115	0.852;0.128	T	0.29640	-1.0005	9	.	.	.	-34.2346	12.6072	0.56529	0.0:0.1684:0.8316:0.0	.	605;605	A8K5A9;Q7Z7L9	.;ZSCA2_HUMAN	H	605;605;455;604;586	ENSP00000410198:Q605H;ENSP00000445451:Q605H;ENSP00000351257:Q455H;ENSP00000325123:Q604H	.	Q	+	3	2	ZSCAN2	82966245	0.471000	0.25862	1.000000	0.80357	0.993000	0.82548	2.664000	0.46783	2.346000	0.79739	0.655000	0.94253	CAG	-	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1		0.488	ZSCAN2-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZSCAN2	protein_coding	OTTHUMT00000396956.1	G	NM_017894		82966245	+1	no_errors	NM_181877	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
LPAR3	23566	genome.wustl.edu	37	1	85331490	85331490	+	Missense_Mutation	SNP	C	C	T			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr1:85331490C>T	ENST00000440886.1	-	1	352	c.314G>A	c.(313-315)cGt>cAt	p.R105H	LPAR3_ENST00000370611.3_Missense_Mutation_p.R105H|LPAR3_ENST00000491034.1_5'UTR			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	105					activation of MAPK activity (GO:0000187)|bleb assembly (GO:0032060)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|synaptic transmission (GO:0007268)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						AAGCCCCTGACGGAGAAACCA	0.502																																																0			1											159.0	167.0	164.0					1																	85331490		2203	4300	6503	85104078	SO:0001583	missense	23566			AF127138	CCDS700.1	1p22.3	2012-08-08	2008-04-11	2008-04-11	ENSG00000171517	ENSG00000171517		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	14298	protein-coding gene	gene with protein product		605106	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7"""	EDG7		10488122	Standard	NM_012152		Approved	LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3	uc009wcj.1	Q9UBY5	OTTHUMG00000009925	ENST00000440886.1:c.314G>A	1.37:g.85331490C>T	ENSP00000395389:p.Arg105His		85104078	A0AVA3	Missense_Mutation	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.R105H	ENST00000440886.1	37	c.314	CCDS700.1	1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.634027	0.87660	.	.	ENSG00000171517	ENST00000440886;ENST00000370611	T;T	0.37058	1.22;1.22	5.65	5.65	0.86999	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.61800	0.2376	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.66842	-0.5821	10	0.72032	D	0.01	.	19.7225	0.96148	0.0:1.0:0.0:0.0	.	105	Q9UBY5	LPAR3_HUMAN	H	105	ENSP00000395389:R105H;ENSP00000359643:R105H	ENSP00000359643:R105H	R	-	2	0	LPAR3	85104078	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	7.792000	0.85828	2.674000	0.91012	0.655000	0.94253	CGT	-	superfamily_SSF81321,HMMPfam_7tm_1		0.502	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPAR3	protein_coding	OTTHUMT00000027467.1	C	NM_012152		85104078	-1	no_errors	NM_012152	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
FLRT2	23768	genome.wustl.edu	37	14	86089206	86089206	+	Missense_Mutation	SNP	T	T	C			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr14:86089206T>C	ENST00000330753.4	+	2	2115	c.1348T>C	c.(1348-1350)Tac>Cac	p.Y450H	FLRT2_ENST00000554746.1_Missense_Mutation_p.Y450H	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	450	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CGTGATGGCATACAAACTCAC	0.488																																																0			14											89.0	81.0	84.0					14																	86089206		2203	4300	6503	85158959	SO:0001583	missense	23768			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1348T>C	14.37:g.86089206T>C	ENSP00000332879:p.Tyr450His		85158959	A0AV84|B7ZLP3	Missense_Mutation	SNP	superfamily_SSF52058,HMMPfam_LRRNT,HMMSmart_LRRNT,HMMPfam_LRR_1,HMMSmart_LRR_TYP,HMMSmart_LRRCT,HMMPfam_LRRCT,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like	p.Y450H	ENST00000330753.4	37	c.1348	CCDS9877.1	14	.	.	.	.	.	.	.	.	.	.	T	19.99	3.928754	0.73327	.	.	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	D;D	0.91740	-2.9;-2.9	6.17	6.17	0.99709	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.121979	0.56097	D	0.000022	D	0.92074	0.7488	L	0.34521	1.04	0.58432	D	0.999996	D	0.69078	0.997	P	0.59424	0.857	D	0.89579	0.3819	10	0.15499	T	0.54	-23.0129	16.8222	0.85835	0.0:0.0:0.0:1.0	.	450	O43155	FLRT2_HUMAN	H	450;450;103	ENSP00000332879:Y450H;ENSP00000451050:Y450H	ENSP00000332879:Y450H	Y	+	1	0	FLRT2	85158959	1.000000	0.71417	0.940000	0.37924	0.955000	0.61496	8.039000	0.88947	2.371000	0.80710	0.533000	0.62120	TAC	-	HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like		0.488	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLRT2	protein_coding	OTTHUMT00000413193.1	T			85158959	+1	no_errors	NM_013231	genbank	human	reviewed	54_36p	missense	SNP	0.994	C
HS2ST1	9653	genome.wustl.edu	37	1	87558290	87558290	+	Missense_Mutation	SNP	T	T	G			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr1:87558290T>G	ENST00000370550.5	+	4	889	c.526T>G	c.(526-528)Ttt>Gtt	p.F176V	RP5-1052I5.2_ENST00000370548.2_Missense_Mutation_p.F150V|HS2ST1_ENST00000356813.4_Missense_Mutation_p.F150V|HS2ST1_ENST00000370551.4_Missense_Mutation_p.F176V	NM_012262.3	NP_036394.1	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1	176					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		TTATTATTACTTTCTGAGATT	0.299																																																0			1											80.0	88.0	85.0					1																	87558290		2202	4293	6495	87330878	SO:0001583	missense	9653			AB007917	CCDS711.1, CCDS44171.1	1p22.3	2008-02-05			ENSG00000153936	ENSG00000153936		"""Sulfotransferases, membrane-bound"""	5193	protein-coding gene	gene with protein product		604844				9455484	Standard	NM_012262		Approved	KIAA0448	uc010osk.2	Q7LGA3	OTTHUMG00000010255	ENST00000370550.5:c.526T>G	1.37:g.87558290T>G	ENSP00000359581:p.Phe176Val		87330878	D3DT22|O75036|Q32NB5|Q8TAC5|Q9H441|Q9NUJ9	Missense_Mutation	SNP	HMMPfam_HS2ST,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.F176V	ENST00000370550.5	37	c.526	CCDS711.1	1	.	.	.	.	.	.	.	.	.	.	T	28.4	4.918117	0.92249	.	.	ENSG00000153936	ENST00000370551;ENST00000370550;ENST00000370548;ENST00000356813	T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.87136	0.6102	M	0.92923	3.36	0.80722	D	1	D;D	0.61697	0.99;0.986	D;P	0.67900	0.954;0.872	D	0.90387	0.4392	10	0.87932	D	0	-17.7404	15.9212	0.79575	0.0:0.0:0.0:1.0	.	176;150	Q7LGA3;Q7LGA3-2	HS2ST_HUMAN;.	V	176;176;150;150	ENSP00000359582:F176V;ENSP00000359581:F176V;ENSP00000359579:F150V;ENSP00000349268:F150V	ENSP00000349268:F150V	F	+	1	0	HS2ST1	87330878	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.988000	0.88194	2.224000	0.72417	0.528000	0.53228	TTT	-	HMMPfam_HS2ST,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.299	HS2ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS2ST1	protein_coding	OTTHUMT00000028279.2	T	NM_012262		87330878	+1	no_errors	NM_012262	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
NRDE2	55051	genome.wustl.edu	37	14	90770317	90770317	+	Missense_Mutation	SNP	G	G	A	rs560359168		TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr14:90770317G>A	ENST00000354366.3	-	5	1199	c.967C>T	c.(967-969)Cgg>Tgg	p.R323W	NRDE2_ENST00000357904.3_Missense_Mutation_p.R92W	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	323																	TGCGTATCCCGAGGATTCTCC	0.517																																																0			14											155.0	128.0	137.0					14																	90770317		2203	4300	6503	89840070	SO:0001583	missense	55051			AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 102"""	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.967C>T	14.37:g.90770317G>A	ENSP00000346335:p.Arg323Trp		89840070	B4DH71|Q4G0A7|Q9NWH6	Missense_Mutation	SNP	superfamily_Prenyl_trans,HMMPfam_DUF1740	p.R323W	ENST00000354366.3	37	c.967	CCDS9890.1	14	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198580	0.38806	.	.	ENSG00000119720	ENST00000354366;ENST00000357904	T;T	0.32023	1.88;1.47	5.79	1.46	0.22682	Domain of unknown function DUF1740 (1);	0.840900	0.10847	N	0.627587	T	0.20659	0.0497	L	0.35723	1.085	0.09310	N	1	B	0.20780	0.048	B	0.14578	0.011	T	0.19910	-1.0291	10	0.37606	T	0.19	-4.8065	4.6759	0.12712	0.2536:0.0:0.482:0.2644	.	323	Q9H7Z3	CN102_HUMAN	W	323;92	ENSP00000346335:R323W;ENSP00000350579:R92W	ENSP00000346335:R323W	R	-	1	2	C14orf102	89840070	0.000000	0.05858	0.080000	0.20451	0.966000	0.64601	0.096000	0.15147	0.760000	0.33108	0.655000	0.94253	CGG	-	superfamily_Prenyl_trans,HMMPfam_DUF1740		0.517	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf102	protein_coding	OTTHUMT00000411264.1	G	NM_017970		89840070	-1	no_errors	NM_017970	genbank	human	validated	54_36p	missense	SNP	0.019	A
GOLGA5	9950	genome.wustl.edu	37	14	93264220	93264220	+	Missense_Mutation	SNP	G	G	C			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr14:93264220G>C	ENST00000163416.2	+	2	694	c.438G>C	c.(436-438)aaG>aaC	p.K146N	GOLGA5_ENST00000355976.2_Missense_Mutation_p.K146N	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	146					Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		AAAAAGGCAAGACACCTGTCT	0.428			T	RET	papillary thyroid																																		Dom	yes		14	14q	9950	"""golgi autoantigen, golgin subfamily a, 5  (PTC5)"""		E	0			14											78.0	78.0	78.0					14																	93264220		2203	4300	6503	92333973	SO:0001583	missense	9950			AF085199	CCDS9905.1	14q32.12	2012-05-04	2010-02-12		ENSG00000066455	ENSG00000066455			4428	protein-coding gene	gene with protein product	"""golgi integral membrane protein 5"""	606918	"""golgi autoantigen, golgin subfamily a, 5"""			2734021, 9443391, 15004235	Standard	NM_005113		Approved	ret-II, golgin-84, rfg5, GOLIM5	uc001yaz.1	Q8TBA6	OTTHUMG00000171217	ENST00000163416.2:c.438G>C	14.37:g.93264220G>C	ENSP00000163416:p.Lys146Asn		92333973	C9JRU1|O95287|Q03962|Q2TS49|Q9UQQ7	Missense_Mutation	SNP	HMMPfam_Golgin_A5,superfamily_Prefoldin	p.K146N	ENST00000163416.2	37	c.438	CCDS9905.1	14	.	.	.	.	.	.	.	.	.	.	G	14.00	2.405976	0.42715	.	.	ENSG00000066455	ENST00000163416;ENST00000355976	T;T	0.34667	1.35;1.35	5.65	-0.85	0.10720	.	0.255835	0.26944	N	0.021707	T	0.30135	0.0755	L	0.60455	1.87	0.09310	N	1	B	0.17465	0.022	B	0.16722	0.016	T	0.29058	-1.0024	10	0.25106	T	0.35	-13.8804	11.4008	0.49868	0.4879:0.0:0.5121:0.0	.	146	Q8TBA6	GOGA5_HUMAN	N	146	ENSP00000163416:K146N;ENSP00000348252:K146N	ENSP00000163416:K146N	K	+	3	2	GOLGA5	92333973	0.000000	0.05858	0.000000	0.03702	0.880000	0.50808	0.166000	0.16583	-0.115000	0.11915	0.655000	0.94253	AAG	-	NULL		0.428	GOLGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA5	protein_coding	OTTHUMT00000412365.1	G			92333973	+1	no_errors	NM_005113	genbank	human	reviewed	54_36p	missense	SNP	0.004	C
GRID2	2895	genome.wustl.edu	37	4	94693633	94693633	+	Missense_Mutation	SNP	G	G	C			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr4:94693633G>C	ENST00000282020.4	+	16	3266	c.3008G>C	c.(3007-3009)cGa>cCa	p.R1003P	GRID2_ENST00000510992.1_Missense_Mutation_p.R908P	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	1003					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		GATCCAGACCGAGGCACCTCC	0.433																																																0			4											57.0	56.0	56.0					4																	94693633		2203	4300	6503	94912656	SO:0001583	missense	2895			AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.3008G>C	4.37:g.94693633G>C	ENSP00000282020:p.Arg1003Pro		94912656	E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	superfamily_SSF53822,HMMPfam_ANF_receptor,HMMSmart_PBPe,superfamily_SSF53850,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan	p.R1003P	ENST00000282020.4	37	c.3008	CCDS3637.1	4	.	.	.	.	.	.	.	.	.	.	G	23.6	4.441518	0.83993	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.15952	2.43;2.38	5.39	5.39	0.77823	.	0.373318	0.27336	N	0.019822	T	0.27663	0.0680	N	0.14661	0.345	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.70487	0.969;0.969	T	0.17715	-1.0360	10	0.62326	D	0.03	.	19.1601	0.93527	0.0:0.0:1.0:0.0	.	908;1003	E9PH24;O43424	.;GRID2_HUMAN	P	1003;908	ENSP00000282020:R1003P;ENSP00000421257:R908P	ENSP00000282020:R1003P	R	+	2	0	GRID2	94912656	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.429000	0.97481	2.519000	0.84933	0.557000	0.71058	CGA	-	NULL		0.433	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID2	protein_coding	OTTHUMT00000253588.2	G			94912656	+1	no_errors	NM_001510	genbank	human	validated	54_36p	missense	SNP	1.000	C
CHD1	1105	genome.wustl.edu	37	5	98207755	98207755	+	Splice_Site	SNP	C	C	T			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr5:98207755C>T	ENST00000284049.3	-	27	4010	c.3861G>A	c.(3859-3861)aaG>aaA	p.K1287K	CHD1_ENST00000511067.1_5'Flank	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1287					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	AGATAAATACCTTGTGTGTTA	0.303																																																0			5											113.0	117.0	116.0					5																	98207755		2203	4300	6503	98235655	SO:0001630	splice_region_variant	1105			AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.3861+1G>A	5.37:g.98207755C>T			98235655	Q17RZ3	Silent	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_Chromo domain-like,HMMSmart_SM00298,HMMPfam_Chromo,PatternScan_CHROMO_1,HMMSmart_SM00487,HMMPfam_SNF2_N,HMMSmart_SM00490,HMMPfam_Helicase_C,superfamily_Homeodomain-like	p.K1287	ENST00000284049.3	37	c.3861	CCDS34204.1	5																																																																																			-	superfamily_Homeodomain-like		0.303	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD1	protein_coding	OTTHUMT00000370295.1	C	NM_001270	Silent	98235655	-1	no_errors	NM_001270	genbank	human	reviewed	54_36p	silent	SNP	1.000	T
DNM1P47	100216544	genome.wustl.edu	37	15	102294380	102294380	+	RNA	SNP	T	T	G	rs368555310		TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr15:102294380T>G	ENST00000561463.1	+	0	2426									DNM1 pseudogene 47																		ACCAAGGAGTTCATCTTCTCA	0.587																																																0			15																																								100111903			441734			AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102294380T>G			100111903		Missense_Mutation	SNP	NULL	p.F652C	ENST00000561463.1	37	c.1955		15																																																																																			-	NULL		0.587	DNM1P47-001	KNOWN	basic	processed_transcript	LOC441734	pseudogene	OTTHUMT00000417589.1	T	NG_009149		100111903	+1	no_start_codon	XM_001715597	genbank	human	model	54_36p	missense	SNP	1.000	G
CHST11	50515	genome.wustl.edu	37	12	105151233	105151233	+	Silent	SNP	C	C	T			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr12:105151233C>T	ENST00000303694.5	+	3	1150	c.711C>T	c.(709-711)ttC>ttT	p.F237F	CHST11_ENST00000549260.1_Silent_p.F232F	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	237					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondrocyte development (GO:0002063)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|developmental growth (GO:0048589)|embryonic digit morphogenesis (GO:0042733)|embryonic viscerocranium morphogenesis (GO:0048703)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|polysaccharide localization (GO:0033037)|post-anal tail morphogenesis (GO:0036342)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						ATGTCAAATTCGAGGAGTTTG	0.567																																																0			12											147.0	120.0	129.0					12																	105151233		2203	4300	6503	103675363	SO:0001819	synonymous_variant	50515			AB042326	CCDS9099.1, CCDS55878.1	12q23.3	2008-02-05				ENSG00000171310	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17422	protein-coding gene	gene with protein product		610128				10781601	Standard	NM_018413		Approved	C4ST1, C4St-1, C4ST, HSA269537	uc001tkz.3	Q9NPF2	OTTHUMG00000169803	ENST00000303694.5:c.711C>T	12.37:g.105151233C>T			103675363	A8K4F8|Q9NXY6|Q9NY36	Silent	SNP	HMMPfam_Sulfotransfer_2	p.F237	ENST00000303694.5	37	c.711	CCDS9099.1	12																																																																																			-	HMMPfam_Sulfotransfer_2		0.567	CHST11-001	KNOWN	basic|CCDS	protein_coding	CHST11	protein_coding	OTTHUMT00000405960.2	C	NM_018413		103675363	+1	no_errors	NM_018413	genbank	human	provisional	54_36p	silent	SNP	1.000	T
RNF128	79589	genome.wustl.edu	37	X	106016295	106016295	+	Missense_Mutation	SNP	G	G	C	rs368852768		TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chrX:106016295G>C	ENST00000255499.2	+	2	887	c.637G>C	c.(637-639)Gtg>Ctg	p.V213L	RNF128_ENST00000324342.3_Missense_Mutation_p.V187L	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	213					negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						TTTCGTTTCTGTGTCCTTTTT	0.403																																																0			X											197.0	158.0	171.0					X																	106016295		2203	4300	6503	105902951	SO:0001583	missense	79589			AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"""RING-type (C3HC4) zinc fingers"""	21153	protein-coding gene	gene with protein product		300439	"""ring finger protein 128"""				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000255499.2:c.637G>C	X.37:g.106016295G>C	ENSP00000255499:p.Val213Leu		105902951	A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Missense_Mutation	SNP	superfamily_Transferrin receptor ectodomain apical domain,HMMPfam_PA,superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4	p.V213L	ENST00000255499.2	37	c.637	CCDS14521.1	X	.	.	.	.	.	.	.	.	.	.	G	17.35	3.367773	0.61513	.	.	ENSG00000133135	ENST00000418562;ENST00000324342;ENST00000255499	T;T;T	0.30714	1.52;2.91;2.72	5.83	5.83	0.93111	.	0.062017	0.64402	D	0.000003	T	0.44685	0.1305	M	0.67397	2.05	0.44092	D	0.996859	B;B	0.34313	0.191;0.448	B;B	0.43478	0.145;0.421	T	0.36890	-0.9729	10	0.54805	T	0.06	.	17.4685	0.87639	0.0:0.0:1.0:0.0	.	213;187	Q8TEB7;Q8TEB7-2	RN128_HUMAN;.	L	160;187;213	ENSP00000412610:V160L;ENSP00000316127:V187L;ENSP00000255499:V213L	ENSP00000255499:V213L	V	+	1	0	RNF128	105902951	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.076000	0.64413	2.445000	0.82738	0.513000	0.50165	GTG	-	superfamily_Transferrin receptor ectodomain apical domain		0.403	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF128	protein_coding	OTTHUMT00000057804.1	G	NM_024539		105902951	+1	no_errors	NM_194463	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
ATM	472	genome.wustl.edu	37	11	108180907	108180907	+	Missense_Mutation	SNP	T	T	G			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr11:108180907T>G	ENST00000452508.2	+	40	5972	c.5783T>G	c.(5782-5784)tTt>tGt	p.F1928C	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.F1928C			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1928					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GGAACAATTTTTAATGATGCT	0.308			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	0			11											63.0	67.0	65.0					11																	108180907		2201	4297	6498	107686117	SO:0001583	missense	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.5783T>G	11.37:g.108180907T>G	ENSP00000388058:p.Phe1928Cys		107686117	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	superfamily_ARM repeat,HMMPfam_FAT,superfamily_Protein kinase-like (PK-like),HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2,HMMPfam_FATC	p.F1928C	ENST00000452508.2	37	c.5783	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	T	13.40	2.226475	0.39300	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.78707	-1.2;-1.2	5.7	4.54	0.55810	Armadillo-type fold (1);	0.092082	0.85682	D	0.000000	T	0.70736	0.3258	L	0.50333	1.59	0.80722	D	1	B;B	0.23490	0.009;0.086	B;B	0.17722	0.007;0.019	T	0.64681	-0.6350	10	0.33141	T	0.24	.	11.9742	0.53081	0.13:0.0:0.0:0.87	.	580;1928	E9PFP9;Q13315	.;ATM_HUMAN	C	1928	ENSP00000278616:F1928C;ENSP00000388058:F1928C	ENSP00000278616:F1928C	F	+	2	0	ATM	107686117	1.000000	0.71417	0.983000	0.44433	0.937000	0.57800	3.933000	0.56545	0.949000	0.37715	0.455000	0.32223	TTT	-	superfamily_ARM repeat		0.308	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	protein_coding	OTTHUMT00000389938.1	T	NM_000051		107686117	+1	no_errors	NM_000051	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
OSTM1	28962	genome.wustl.edu	37	6	108366015	108366015	+	Missense_Mutation	SNP	C	C	A			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr6:108366015C>A	ENST00000193322.3	-	6	1064	c.979G>T	c.(979-981)Gca>Tca	p.A327S	OSTM1_ENST00000492130.1_5'Flank	NM_014028.3	NP_054747.2	Q86WC4	OSTM1_HUMAN	osteopetrosis associated transmembrane protein 1	327					ion transmembrane transport (GO:0034220)|osteoclast differentiation (GO:0030316)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)		BRCA - Breast invasive adenocarcinoma(108;0.0131)|Epithelial(106;0.0438)|OV - Ovarian serous cystadenocarcinoma(136;0.0571)|all cancers(137;0.0581)		TGAATATTTGCAAAACTGGTA	0.289																																					Melanoma(162;1427 1909 3096 17430 21396)											0			6											116.0	103.0	108.0					6																	108366015		2202	4300	6502	108472708	SO:0001583	missense	28962			AF533891	CCDS5062.1	6q21	2014-06-17			ENSG00000081087	ENSG00000081087			21652	protein-coding gene	gene with protein product	"""CLCN7 accessory beta subunit"""	607649				12627228, 21527911	Standard	NM_014028		Approved	HSPC019, GL	uc003psd.3	Q86WC4	OTTHUMG00000015317	ENST00000193322.3:c.979G>T	6.37:g.108366015C>A	ENSP00000193322:p.Ala327Ser		108472708	E1P5E3|Q5R391|Q6PCA7|Q7RTW6|Q8NC29|Q8TC82|Q9Y2S9	Missense_Mutation	SNP	HMMPfam_OSTMP1	p.A327S	ENST00000193322.3	37	c.979	CCDS5062.1	6	.	.	.	.	.	.	.	.	.	.	C	21.9	4.222215	0.79464	.	.	ENSG00000081087	ENST00000193322	T	0.46451	0.87	5.34	5.34	0.76211	.	0.243384	0.47455	D	0.000222	T	0.37461	0.1004	L	0.51422	1.61	0.27729	N	0.944873	D	0.53312	0.959	P	0.50049	0.629	T	0.24512	-1.0158	10	0.59425	D	0.04	-12.8827	17.6042	0.88033	0.0:1.0:0.0:0.0	.	327	Q86WC4	OSTM1_HUMAN	S	327	ENSP00000193322:A327S	ENSP00000193322:A327S	A	-	1	0	OSTM1	108472708	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.419000	0.44671	2.507000	0.84556	0.467000	0.42956	GCA	-	HMMPfam_OSTMP1		0.289	OSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSTM1	protein_coding	OTTHUMT00000041709.3	C	NM_014028		108472708	-1	no_errors	NM_014028	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
CD96	10225	genome.wustl.edu	37	3	111368636	111368636	+	Missense_Mutation	SNP	G	G	A			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr3:111368636G>A	ENST00000283285.5	+	15	1872	c.1741G>A	c.(1741-1743)Gag>Aag	p.E581K	CD96_ENST00000352690.4_Missense_Mutation_p.E565K	NM_198196.2	NP_937839.1	P40200	TACT_HUMAN	CD96 molecule	581					cell adhesion (GO:0007155)|immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						GCCTTATCATGAGATGGAGAC	0.463									Opitz Trigonocephaly syndrome																																							0			3											144.0	129.0	134.0					3																	111368636		2203	4300	6503	112851326	SO:0001583	missense	10225	Familial Cancer Database	C syndrome, Trigonocephaly syndrome	M88282	CCDS2958.1, CCDS2959.1	3p13-q13.2	2013-01-11	2006-03-28		ENSG00000153283	ENSG00000153283		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16892	protein-coding gene	gene with protein product		606037	"""CD96 antigen"""			1313846	Standard	XR_241462		Approved	TACTILE	uc003dxx.3	P40200	OTTHUMG00000159275	ENST00000283285.5:c.1741G>A	3.37:g.111368636G>A	ENSP00000283285:p.Glu581Lys		112851326	Q5JPB3	Missense_Mutation	SNP	HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409	p.E581K	ENST00000283285.5	37	c.1741	CCDS2959.1	3	.	.	.	.	.	.	.	.	.	.	G	26.0	4.691180	0.88735	.	.	ENSG00000153283	ENST00000352690;ENST00000283285	T;T	0.74421	-0.84;-0.84	5.68	5.68	0.88126	.	0.000000	0.56097	D	0.000037	T	0.79137	0.4395	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.994;0.998;0.994	T	0.81239	-0.1023	10	0.87932	D	0	-15.0207	15.2881	0.73846	0.0:0.0:1.0:0.0	.	564;565;581	E9PEJ1;P40200-2;P40200	.;.;TACT_HUMAN	K	565;581	ENSP00000342040:E565K;ENSP00000283285:E581K	ENSP00000283285:E581K	E	+	1	0	CD96	112851326	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	3.610000	0.54125	2.684000	0.91462	0.563000	0.77884	GAG	-	NULL		0.463	CD96-001	KNOWN	basic|CCDS	protein_coding	CD96	protein_coding	OTTHUMT00000354312.2	G			112851326	+1	no_errors	NM_198196	genbank	human	reviewed	54_36p	missense	SNP	0.999	A
TBX3	6926	genome.wustl.edu	37	12	115117724	115117724	+	Silent	SNP	A	A	G			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr12:115117724A>G	ENST00000257566.3	-	3	1100	c.711T>C	c.(709-711)ggT>ggC	p.G237G	TBX3_ENST00000349155.2_Intron	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	237					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		CTACCTGAGTACCAAAACTAT	0.433																																																0			12											100.0	84.0	90.0					12																	115117724		2203	4300	6503	113602107	SO:0001819	synonymous_variant	6926			BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.711T>C	12.37:g.115117724A>G			113602107	Q8TB20|Q9UKF8	Silent	SNP	superfamily_p53-like transcription factors,HMMSmart_SM00425,HMMPfam_T-box,PatternScan_TBOX_1,PatternScan_TBOX_2	p.G237	ENST00000257566.3	37	c.711	CCDS9176.1	12																																																																																			-	superfamily_p53-like transcription factors,HMMSmart_SM00425,HMMPfam_T-box		0.433	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBX3	protein_coding	OTTHUMT00000404947.2	A	NM_016569, NM_005996		113602107	-1	no_errors	NM_016569	genbank	human	reviewed	54_36p	silent	SNP	0.998	G
ROS1	6098	genome.wustl.edu	37	6	117686365	117686365	+	Missense_Mutation	SNP	G	G	C			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr6:117686365G>C	ENST00000368508.3	-	20	3174	c.2976C>G	c.(2974-2976)ttC>ttG	p.F992L	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.F987L	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	992	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CACTAGCCAAGAACTAAAATA	0.323			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																		Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"""O, E"""	0			6											48.0	48.0	48.0					6																	117686365		2203	4299	6502	117793058	SO:0001583	missense	6098			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.2976C>G	6.37:g.117686365G>C	ENSP00000357494:p.Phe992Leu		117793058	Q15368|Q5TDB5	Missense_Mutation	SNP	HMMSmart_FN3,HMMPfam_fn3,superfamily_FN_III-like,superfamily_SSF63825,HMMSmart_LY,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR,PatternScan_RECEPTOR_TYR_KIN_II	p.F992L	ENST00000368508.3	37	c.2976	CCDS5116.1	6	.	.	.	.	.	.	.	.	.	.	G	5.023	0.189961	0.09547	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.51817	0.69;0.69	5.73	2.13	0.27403	.	0.549745	0.18335	N	0.144345	T	0.09291	0.0229	N	0.14661	0.345	0.58432	D	0.999999	B	0.15473	0.013	B	0.09377	0.004	T	0.17868	-1.0355	10	0.09084	T	0.74	.	6.4285	0.21784	0.5704:0.0:0.4296:0.0	.	992	P08922	ROS1_HUMAN	L	992;987	ENSP00000357494:F992L;ENSP00000357493:F987L	ENSP00000357493:F987L	F	-	3	2	ROS1	117793058	0.995000	0.38212	1.000000	0.80357	0.561000	0.35649	1.047000	0.30367	0.510000	0.28216	0.655000	0.94253	TTC	-	HMMSmart_FN3,superfamily_FN_III-like		0.323	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ROS1	protein_coding	OTTHUMT00000043464.1	G			117793058	-1	no_errors	NM_002944	genbank	human	reviewed	54_36p	missense	SNP	0.956	C
FBXO40	51725	genome.wustl.edu	37	3	121341365	121341365	+	Silent	SNP	T	T	C			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr3:121341365T>C	ENST00000338040.4	+	3	1503	c.1089T>C	c.(1087-1089)ctT>ctC	p.L363L		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	363					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GAGCTCGACTTGGAGATGCCA	0.473																																																0			3											108.0	100.0	102.0					3																	121341365		2203	4300	6503	122824055	SO:0001819	synonymous_variant	51725			AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"""F-boxes /  ""other"""""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.1089T>C	3.37:g.121341365T>C			122824055	B2RAX7|Q32M70|Q9ULM5	Silent	SNP	superfamily_TRAF domain-like,superfamily_F-box domain,HMMPfam_F-box	p.L363	ENST00000338040.4	37	c.1089	CCDS33835.1	3																																																																																			-	NULL		0.473	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO40	protein_coding	OTTHUMT00000355158.1	T	NM_016298		122824055	+1	no_errors	NM_016298	genbank	human	validated	54_36p	silent	SNP	0.835	C
OR10G7	390265	genome.wustl.edu	37	11	123909523	123909523	+	Silent	SNP	G	G	T			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr11:123909523G>T	ENST00000330487.5	-	1	194	c.186C>A	c.(184-186)acC>acA	p.T62T		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	62						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)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AGGACAGGTTGGTGAGGAAGT	0.547																																																0			11											21.0	21.0	21.0					11																	123909523		2195	4270	6465	123414733	SO:0001819	synonymous_variant	390265			AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"""GPCR / Class A : Olfactory receptors"""	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.186C>A	11.37:g.123909523G>T			123414733	Q6IFE8	Silent	SNP	PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1	p.T62	ENST00000330487.5	37	c.186	CCDS31705.1	11																																																																																			-	superfamily_SSF81321,HMMPfam_7tm_1		0.547	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G7	protein_coding	OTTHUMT00000387271.1	G	NM_001004463		123414733	-1	no_errors	NM_001004463	genbank	human	provisional	54_36p	silent	SNP	0.021	T
CDON	50937	genome.wustl.edu	37	11	125830873	125830873	+	Missense_Mutation	SNP	G	G	T			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr11:125830873G>T	ENST00000392693.3	-	20	3955	c.3828C>A	c.(3826-3828)agC>agA	p.S1276R	RP11-680F20.12_ENST00000582823.1_RNA|CDON_ENST00000263577.7_Missense_Mutation_p.S1253R|CDON_ENST00000531738.1_Missense_Mutation_p.S630R	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	1276					anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		CCTCTGTCGGGCTGTCTAAAG	0.522																																																0			11											124.0	125.0	124.0					11																	125830873		2201	4299	6500	125336083	SO:0001583	missense	50937			AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17104	protein-coding gene	gene with protein product	"""cell adhesion molecule-related/down-regulated by oncogenes"""	608707	"""Cdon homolog (mouse)"""			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.3828C>A	11.37:g.125830873G>T	ENSP00000376458:p.Ser1276Arg		125336083	O14631	Missense_Mutation	SNP	superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_I-set,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3	p.S1253R	ENST00000392693.3	37	c.3759	CCDS58192.1	11	.	.	.	.	.	.	.	.	.	.	G	6.445	0.450239	0.12223	.	.	ENSG00000064309	ENST00000392693;ENST00000531738;ENST00000263577	T;T;T	0.71103	-0.47;0.22;-0.54	5.46	2.58	0.30949	.	0.273852	0.26620	N	0.023369	T	0.56645	0.1999	L	0.51422	1.61	0.09310	N	1	P;B;B	0.42409	0.779;0.435;0.201	B;B;B	0.36885	0.235;0.219;0.109	T	0.52525	-0.8564	10	0.49607	T	0.09	-8.1542	4.4086	0.11421	0.2968:0.1686:0.5346:0.0	.	1276;1253;630	Q4KMG0;Q4KMG0-2;E9PN78	CDON_HUMAN;.;.	R	1276;630;1253	ENSP00000376458:S1276R;ENSP00000432901:S630R;ENSP00000263577:S1253R	ENSP00000263577:S1253R	S	-	3	2	CDON	125336083	0.284000	0.24287	0.036000	0.18154	0.005000	0.04900	0.743000	0.26231	0.422000	0.26005	-0.123000	0.14984	AGC	-	NULL		0.522	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDON	protein_coding	OTTHUMT00000386749.2	G	NM_016952		125336083	-1	no_errors	NM_016952	genbank	human	validated	54_36p	missense	SNP	0.011	T
LAMA2	3908	genome.wustl.edu	37	6	129419451	129419451	+	Missense_Mutation	SNP	T	T	C			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr6:129419451T>C	ENST00000421865.2	+	4	579	c.530T>C	c.(529-531)cTa>cCa	p.L177P		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	177	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ACGGAGTGCCTAACGCTTTAC	0.483																																																0			6											103.0	96.0	99.0					6																	129419451		2203	4300	6503	129461144	SO:0001583	missense	3908			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.530T>C	6.37:g.129419451T>C	ENSP00000400365:p.Leu177Pro		129461144	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	HMMSmart_LamNT,HMMPfam_Laminin_N,superfamily_Gal_bind_like,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_ConA_like_lec_gl,PatternScan_EGF_1,PatternScan_EGF_LAM_1,superfamily_SSF57196,PatternScan_EGF_2,HMMSmart_LamB,HMMPfam_Laminin_B,HMMPfam_Laminin_I,superfamily_SSF56399,HMMPfam_Laminin_II,HMMSmart_LamG,HMMPfam_Laminin_G_1,HMMPfam_Laminin_G_2	p.L177P	ENST00000421865.2	37	c.530	CCDS5138.1	6	.	.	.	.	.	.	.	.	.	.	T	16.53	3.150137	0.57151	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.75938	-0.98	5.34	5.34	0.76211	Laminin, N-terminal (3);	0.000000	0.64402	D	0.000008	D	0.83110	0.5183	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.85834	0.1393	10	0.87932	D	0	.	15.6136	0.76748	0.0:0.0:0.0:1.0	.	177;177	A6NF00;P24043	.;LAMA2_HUMAN	P	177	ENSP00000400365:L177P	ENSP00000346769:L177P	L	+	2	0	LAMA2	129461144	1.000000	0.71417	0.915000	0.36163	0.270000	0.26580	7.939000	0.87685	2.158000	0.67659	0.383000	0.25322	CTA	-	HMMSmart_LamNT,HMMPfam_Laminin_N,superfamily_Gal_bind_like		0.483	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	protein_coding	OTTHUMT00000042180.1	T			129461144	+1	no_errors	NM_000426	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
LAMA2	3908	genome.wustl.edu	37	6	129785512	129785512	+	Missense_Mutation	SNP	G	G	T			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr6:129785512G>T	ENST00000421865.2	+	50	7119	c.7070G>T	c.(7069-7071)tGg>tTg	p.W2357L		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2357	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCCATTCGCTGGTACCCCAAC	0.453																																																0			6											301.0	237.0	259.0					6																	129785512		2203	4300	6503	129827205	SO:0001583	missense	3908			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.7070G>T	6.37:g.129785512G>T	ENSP00000400365:p.Trp2357Leu		129827205	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	HMMPfam_Laminin_B,HMMSmart_LamG,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,PatternScan_EGF_LAM_1,HMMPfam_Laminin_N,HMMSmart_LamNT,superfamily_Gal_bind_like,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_I,HMMPfam_Laminin_II,HMMPfam_Laminin_G_1,HMMPfam_Laminin_G_2,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_LamB,superfamily_SSF56399,superfamily_SSF57196	p.W2357L	ENST00000421865.2	37	c.7070	CCDS5138.1	6	.	.	.	.	.	.	.	.	.	.	G	33	5.256654	0.95336	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.77358	-1.09	5.87	5.87	0.94306	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.056850	0.85682	D	0.000000	T	0.75766	0.3894	L	0.28014	0.82	0.80722	D	1	D;D	0.62365	0.991;0.991	P;P	0.60886	0.88;0.88	T	0.72966	-0.4131	9	.	.	.	.	20.1922	0.98231	0.0:0.0:1.0:0.0	.	2358;2357	A6NF00;P24043	.;LAMA2_HUMAN	L	2357;2356;2357;375	ENSP00000400365:W2357L	.	W	+	2	0	LAMA2	129827205	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.352000	0.97076	2.767000	0.95098	0.655000	0.94253	TGG	-	superfamily_ConA_like_lec_gl		0.453	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	protein_coding	OTTHUMT00000042180.1	G			129827205	+1	no_errors	NM_000426	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
MBD4	8930	genome.wustl.edu	37	3	129155581	129155581	+	Silent	SNP	C	C	G			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr3:129155581C>G	ENST00000249910.1	-	3	1081	c.906G>C	c.(904-906)gtG>gtC	p.V302V	MBD4_ENST00000507208.1_Silent_p.V302V|MBD4_ENST00000393278.2_Intron|MBD4_ENST00000509587.1_Intron|MBD4_ENST00000429544.2_Silent_p.V302V|MBD4_ENST00000503197.1_Silent_p.V302V	NM_003925.1	NP_003916.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	302					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						CTTCACTGGTCACACTGAGGG	0.373								Base excision repair (BER), DNA glycosylases																																								0			3											103.0	108.0	106.0					3																	129155581		2203	4300	6503	130638271	SO:0001819	synonymous_variant	8930			AF072250	CCDS3058.1, CCDS63766.1, CCDS63767.1, CCDS63768.1, CCDS63769.1	3q21.3	2004-03-02			ENSG00000129071	ENSG00000129071			6919	protein-coding gene	gene with protein product		603574				9774669, 10097147	Standard	NM_003925		Approved	MED1	uc003emh.2	O95243	OTTHUMG00000159463	ENST00000249910.1:c.906G>C	3.37:g.129155581C>G			130638271	B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Silent	SNP	superfamily_DNA-binding domain,HMMPfam_MBD,HMMSmart_SM00391,superfamily_DNA-glycosylase,HMMPfam_HhH-GPD	p.V302	ENST00000249910.1	37	c.906	CCDS3058.1	3																																																																																			-	NULL		0.373	MBD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MBD4	protein_coding	OTTHUMT00000355529.1	C	NM_003925		130638271	-1	no_errors	NM_003925	genbank	human	reviewed	54_36p	silent	SNP	0.000	G
PLEKHB2	55041	genome.wustl.edu	37	2	131949182	131949182	+	Intron	SNP	G	G	T			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr2:131949182G>T	ENST00000404460.1	+	6	477				PLEKHB2_ENST00000303908.3_Intron			Q96CS7	PKHB2_HUMAN	pleckstrin homology domain containing, family B (evectins) member 2							endosome (GO:0005768)|membrane (GO:0016020)				large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		TGGGCTATAGGTTGGCAGGCC	0.517																																																0			2																																								131665652	SO:0001627	intron_variant	401007				CCDS2166.1, CCDS46413.1, CCDS58729.1, CCDS58730.1, CCDS74576.1, CCDS74577.1	2q22.1	2013-01-10			ENSG00000115762	ENSG00000115762		"""Pleckstrin homology (PH) domain containing"""	19236	protein-coding gene	gene with protein product						10200314	Standard	NM_017958		Approved	EVT2, FLJ20783	uc031rpd.1	Q96CS7	OTTHUMG00000131656	ENST00000404460.1:c.423+58618G>T	2.37:g.131949182G>T			131665652	B4DF08|B4DZ66|B8ZZN1|Q53FF1|Q53TH7|Q86W37|Q9BV75|Q9NWK1	RNA	SNP	-	NULL	ENST00000404460.1	37	NULL		2																																																																																			-	-		0.517	PLEKHB2-002	KNOWN	basic	protein_coding	LOC401007	protein_coding	OTTHUMT00000318943.2	G	NM_017958		131665652	-1	pseudogene	XR_017052	genbank	human	model	54_36p	rna	SNP	1.000	T
ACAD8	27034	genome.wustl.edu	37	11	134131645	134131645	+	Missense_Mutation	SNP	C	C	T			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr11:134131645C>T	ENST00000281182.4	+	9	1059	c.953C>T	c.(952-954)aCa>aTa	p.T318I	ACAD8_ENST00000374752.4_Missense_Mutation_p.T191I|ACAD8_ENST00000524547.1_3'UTR|ACAD8_ENST00000543332.1_3'UTR|ACAD8_ENST00000537423.1_Missense_Mutation_p.T241I	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	318					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|lipid metabolic process (GO:0006629)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|valine catabolic process (GO:0006574)	mitochondrial matrix (GO:0005759)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)	Flavin adenine dinucleotide(DB03147)	TTGCAATTCACACTGGCTGAT	0.592																																					GBM(65;238 1125 33403 41853 48889)											0			11											87.0	79.0	82.0					11																	134131645		2201	4297	6498	133636855	SO:0001583	missense	27034			AF126245	CCDS8498.1	11q25	2014-09-17	2010-04-30		ENSG00000151498	ENSG00000151498			87	protein-coding gene	gene with protein product		604773	"""acyl-Coenzyme A dehydrogenase family, member 8"""			10524212	Standard	NM_014384		Approved		uc001qhk.3	Q9UKU7	OTTHUMG00000167177	ENST00000281182.4:c.953C>T	11.37:g.134131645C>T	ENSP00000281182:p.Thr318Ile		133636855	B7Z5W4|Q6ZWP6|Q9BUS8	Missense_Mutation	SNP	PatternScan_ACYL_COA_DH_2,superfamily_AcylCoA_dehyd_NM,HMMPfam_Acyl-CoA_dh_N,HMMPfam_Acyl-CoA_dh_M,PatternScan_ACYL_COA_DH_1,HMMPfam_Acyl-CoA_dh_1,superfamily_AcylCoADH_C_like	p.T318I	ENST00000281182.4	37	c.953	CCDS8498.1	11	.	.	.	.	.	.	.	.	.	.	A	13.03	2.115593	0.37339	.	.	ENSG00000151498	ENST00000281182;ENST00000537423;ENST00000374752	D;D;D	0.95980	-3.87;-3.87;-3.87	5.69	3.38	0.38709	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.240683	0.46758	D	0.000268	D	0.89406	0.6706	L	0.27975	0.815	0.09310	N	0.999999	B;B;B	0.22003	0.027;0.063;0.027	B;B;B	0.17098	0.006;0.017;0.01	T	0.80480	-0.1364	10	0.87932	D	0	.	4.4653	0.11685	0.5952:0.2291:0.0654:0.1102	.	241;191;318	B7Z5W4;Q6ZWP6;Q9UKU7	.;.;ACAD8_HUMAN	I	318;241;191	ENSP00000281182:T318I;ENSP00000443763:T241I;ENSP00000363884:T191I	ENSP00000281182:T318I	T	+	2	0	ACAD8	133636855	0.996000	0.38824	0.102000	0.21198	0.045000	0.14185	2.113000	0.41902	0.050000	0.15949	-5.061000	0.00001	ACA	-	HMMPfam_Acyl-CoA_dh_1,superfamily_AcylCoADH_C_like		0.592	ACAD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAD8	protein_coding	OTTHUMT00000393607.1	C	NM_014384		133636855	+1	no_errors	NM_014384	genbank	human	validated	54_36p	missense	SNP	0.983	T
MAP3K5	4217	genome.wustl.edu	37	6	137019804	137019804	+	Missense_Mutation	SNP	T	T	C			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr6:137019804T>C	ENST00000359015.4	-	4	989	c.629A>G	c.(628-630)tAc>tGc	p.Y210C		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	210					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		AACAAAGGTGTAGTTCCCAGT	0.502																																																0			6											109.0	97.0	101.0					6																	137019804		2203	4300	6503	137061497	SO:0001583	missense	4217			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.629A>G	6.37:g.137019804T>C	ENSP00000351908:p.Tyr210Cys		137061497	A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	HMMSmart_S_TKc,HMMPfam_Pkinase,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,superfamily_SAM_homology	p.Y210C	ENST00000359015.4	37	c.629	CCDS5179.1	6	.	.	.	.	.	.	.	.	.	.	T	22.6	4.313673	0.81358	.	.	ENSG00000197442	ENST00000359015;ENST00000367768	T	0.11385	2.78	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.27663	0.0680	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.06607	-1.0817	10	0.87932	D	0	.	15.6737	0.77297	0.0:0.0:0.0:1.0	.	290;55;210	Q59GL6;B4DF67;Q99683	.;.;M3K5_HUMAN	C	210;290	ENSP00000351908:Y210C	ENSP00000351908:Y210C	Y	-	2	0	MAP3K5	137061497	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.696000	0.84270	2.103000	0.63969	0.533000	0.62120	TAC	-	NULL		0.502	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	protein_coding	OTTHUMT00000042383.1	T			137061497	-1	no_errors	NM_005923	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
RP11-435B5.5	0	genome.wustl.edu	37	1	143378911	143378911	+	lincRNA	SNP	G	G	A	rs573476186	byFrequency	TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr1:143378911G>A	ENST00000428624.1	+	0	1631				RP11-435B5.4_ENST00000423249.1_lincRNA|RP11-435B5.3_ENST00000430699.1_lincRNA																							AGCAGAAAGAGTAGTAAGTAT	0.289													.|||	2	0.000399361	0.0	0.0	5008	,	,		39813	0.0		0.001	False		,,,				2504	0.001															0			1																																								142220434			728783																															1.37:g.143378911G>A			142220434		RNA	SNP	-	NULL	ENST00000428624.1	37	NULL		1																																																																																			-	-		0.289	RP11-435B5.5-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	LOC728783	lincRNA	OTTHUMT00000037971.1	G			142220434	+1	pseudogene	XR_037226	genbank	human	model	54_36p	rna	SNP	0.997	A
EXOSC4	54512	genome.wustl.edu	37	8	145135279	145135279	+	Silent	SNP	G	G	A	rs147555477		TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr8:145135279G>A	ENST00000316052.5	+	3	616	c.513G>A	c.(511-513)gcG>gcA	p.A171A	EXOSC4_ENST00000525936.1_Missense_Mutation_p.G129R|CTD-3065J16.9_ENST00000524499.1_RNA|GPAA1_ENST00000361036.6_5'Flank|GPAA1_ENST00000355091.4_5'Flank	NM_019037.2	NP_061910.1	Q9NPD3	EXOS4_HUMAN	exosome component 4	171					defense response to virus (GO:0051607)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)			lung(4)|prostate(1)|upper_aerodigestive_tract(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGCCCTGGCGGACCTCAGCC	0.647																																																0			8						G		0,4406		0,0,2203	54.0	56.0	55.0		513	-10.8	0.1	8	dbSNP_134	55	1,8599		0,1,4299	no	coding-synonymous	EXOSC4	NM_019037.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		171/246	145135279	1,13005	2203	4300	6503	145207267	SO:0001819	synonymous_variant	54512			AF281133	CCDS6414.1	8q24.3	2004-03-26			ENSG00000178896	ENSG00000178896			18189	protein-coding gene	gene with protein product	"""exosome component Rrp41"""	606491				11110791	Standard	NM_019037		Approved	hRrp41p, FLJ20591, Rrp41p, RRP41, RRP41A, Ski6p, SKI6, p12A	uc003zau.3	Q9NPD3	OTTHUMG00000165437	ENST00000316052.5:c.513G>A	8.37:g.145135279G>A			145207267		Silent	SNP	superfamily_Ribosomal_S5_D2-typ_fold,HMMPfam_RNase_PH,superfamily_3_ExoRNase,HMMPfam_RNase_PH_C	p.A171	ENST00000316052.5	37	c.513	CCDS6414.1	8	.	.	.	.	.	.	.	.	.	.	G	2.208	-0.381449	0.05000	0.0	1.16E-4	ENSG00000178896	ENST00000525936	.	.	.	5.38	-10.8	0.00216	.	.	.	.	.	T	0.34221	0.0890	.	.	.	0.09310	N	0.999992	.	.	.	.	.	.	T	0.55685	-0.8102	5	0.87932	D	0	-6.9186	7.8872	0.29656	0.2093:0.2137:0.5023:0.0747	.	.	.	.	R	129	.	ENSP00000432661:G129R	G	+	1	0	EXOSC4	145207267	0.000000	0.05858	0.137000	0.22149	0.644000	0.38419	-3.768000	0.00371	-3.707000	0.00118	-3.230000	0.00052	GGA	-	superfamily_3_ExoRNase,HMMPfam_RNase_PH_C		0.647	EXOSC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOSC4	protein_coding	OTTHUMT00000384065.1	G	NM_019037		145207267	+1	no_errors	NM_019037	genbank	human	validated	54_36p	silent	SNP	0.556	A
POGZ	23126	genome.wustl.edu	37	1	151403146	151403146	+	Missense_Mutation	SNP	G	G	C			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr1:151403146G>C	ENST00000271715.2	-	4	769	c.455C>G	c.(454-456)aCg>aGg	p.T152R	POGZ_ENST00000540984.1_5'UTR|POGZ_ENST00000531094.1_Missense_Mutation_p.T99R|POGZ_ENST00000392723.1_Missense_Mutation_p.T99R|POGZ_ENST00000368863.2_Intron|POGZ_ENST00000409503.1_Missense_Mutation_p.T152R|POGZ_ENST00000491586.1_Missense_Mutation_p.T99R|POGZ_ENST00000361398.3_Missense_Mutation_p.T99R	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	152					kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACTCACCTGCGTAGTGATAAA	0.448																																																0			1											214.0	219.0	218.0					1																	151403146		2203	4300	6503	149669770	SO:0001583	missense	23126			AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"""zinc finger protein 280E"", ""putative protein product of Nbla00003"""	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.455C>G	1.37:g.151403146G>C	ENSP00000271715:p.Thr152Arg		149669770	B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2,HMMPfam_CenpB-DNA-bind,superfamily_Homeodomain-like,HMMSmart_SM00674,HMMPfam_DDE	p.T152R	ENST00000271715.2	37	c.455	CCDS997.1	1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308075	0.81247	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000409503;ENST00000531094;ENST00000491586;ENST00000437847	T;T;T;T;T;T	0.01279	5.54;5.56;5.54;5.53;5.57;5.06	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000001	T	0.02267	0.0070	N	0.19112	0.55	0.80722	D	1	D;D;D;D;D;D	0.76494	0.98;0.966;0.992;0.98;0.999;0.98	P;P;P;P;D;P	0.79784	0.477;0.519;0.835;0.527;0.993;0.67	T	0.68685	-0.5343	10	0.87932	D	0	-11.849	17.5046	0.87741	0.0:0.0:1.0:0.0	.	99;152;152;99;99;152	E9PM80;B7ZBY5;Q7Z3K3-4;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;POGZ_HUMAN	R	99;152;99;152;99;99;152	ENSP00000376484:T99R;ENSP00000271715:T152R;ENSP00000354467:T99R;ENSP00000386836:T152R;ENSP00000431259:T99R;ENSP00000418408:T99R	ENSP00000271715:T152R	T	-	2	0	POGZ	149669770	1.000000	0.71417	0.987000	0.45799	0.979000	0.70002	6.185000	0.72013	2.708000	0.92522	0.585000	0.79938	ACG	-	NULL		0.448	POGZ-001	KNOWN	basic|CCDS	protein_coding	POGZ	protein_coding	OTTHUMT00000034915.2	G	NM_207171		149669770	-1	no_errors	NM_015100	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
LINGO4	339398	genome.wustl.edu	37	1	151773709	151773709	+	Missense_Mutation	SNP	C	C	G			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr1:151773709C>G	ENST00000368820.3	-	2	2409	c.1472G>C	c.(1471-1473)gGg>gCg	p.G491A	RP11-98D18.17_ENST00000601909.1_lincRNA	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	491	Ig-like C2-type.					integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGAGTCATTCCCAGCGACATT	0.587																																																0			1											186.0	181.0	183.0					1																	151773709		2203	4300	6503	150040333	SO:0001583	missense	339398				CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"""Immunoglobulin superfamily / I-set domain containing"""	31814	protein-coding gene	gene with protein product		609794	"""leucine rich repeat neuronal 6D"""	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.1472G>C	1.37:g.151773709C>G	ENSP00000357810:p.Gly491Ala		150040333		Missense_Mutation	SNP	superfamily_SSF52058,HMMPfam_LRRNT,HMMSmart_LRRNT,HMMSmart_LRR_TYP,HMMPfam_LRR_1,HMMSmart_LRRCT,superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2	p.G491A	ENST00000368820.3	37	c.1472	CCDS30855.1	1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.934224	0.73442	.	.	ENSG00000213171	ENST00000368820	T	0.74632	-0.86	5.53	5.53	0.82687	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.50627	D	0.000102	D	0.87116	0.6097	M	0.88979	2.995	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88461	0.3055	10	0.87932	D	0	.	17.0075	0.86397	0.0:1.0:0.0:0.0	.	491	Q6UY18	LIGO4_HUMAN	A	491	ENSP00000357810:G491A	ENSP00000357810:G491A	G	-	2	0	LINGO4	150040333	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	7.651000	0.83577	2.879000	0.98667	0.650000	0.86243	GGG	-	superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2		0.587	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO4	protein_coding	OTTHUMT00000036639.1	C	XM_291387		150040333	-1	no_errors	NM_001004432	genbank	human	provisional	54_36p	missense	SNP	1.000	G
RHBG	57127	genome.wustl.edu	37	1	156347189	156347189	+	Silent	SNP	C	C	T			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr1:156347189C>T	ENST00000368249.1	+	2	323	c.285C>T	c.(283-285)ctC>ctT	p.L95L	RHBG_ENST00000255013.3_Silent_p.L26L|RHBG_ENST00000451864.2_Silent_p.L26L|RHBG_ENST00000537040.1_Intron|RHBG_ENST00000400992.2_Silent_p.L26L|RHBG_ENST00000368246.2_Silent_p.L95L	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	95					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	anchored component of plasma membrane (GO:0046658)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|spectrin-associated cytoskeleton (GO:0014731)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)	p.L95L(2)|p.L26L(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					TCACCTTCCTCCTGGCCGCCT	0.622																																																3	Substitution - coding silent(3)	lung(3)	1											116.0	120.0	119.0					1																	156347189		2201	4300	6501	154613813	SO:0001819	synonymous_variant	57127			AF193807		1q22	2013-05-22	2009-01-22		ENSG00000132677	ENSG00000132677		"""Solute carriers"""	14572	protein-coding gene	gene with protein product		607079	"""Rhesus blood group, B glycoprotein"""			10852913	Standard	NM_020407		Approved	SLC42A2	uc010pho.3	Q9H310	OTTHUMG00000024057	ENST00000368249.1:c.285C>T	1.37:g.156347189C>T			154613813	A8K475|Q5SZW4|Q5SZW6|Q5SZW7|Q6P193|Q6YJI2|Q6YJI3	Silent	SNP	HMMPfam_Ammonium_transp,superfamily_Ammonium ransporter (Pfam 00909)	p.L95	ENST00000368249.1	37	c.285		1																																																																																			-	HMMPfam_Ammonium_transp,superfamily_Ammonium ransporter (Pfam 00909)		0.622	RHBG-001	NOVEL	basic	protein_coding	RHBG	protein_coding	OTTHUMT00000060589.2	C	NM_001256395		154613813	+1	no_errors	NM_020407	genbank	human	reviewed	54_36p	silent	SNP	1.000	T
KIRREL	55243	genome.wustl.edu	37	1	158064749	158064749	+	Nonsense_Mutation	SNP	C	C	T			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr1:158064749C>T	ENST00000359209.6	+	15	2180	c.2113C>T	c.(2113-2115)Cga>Tga	p.R705*	KIRREL_ENST00000368173.3_Nonsense_Mutation_p.R721*|KIRREL_ENST00000360089.4_Nonsense_Mutation_p.R541*|KIRREL_ENST00000368172.1_Nonsense_Mutation_p.R519*|KIRREL_ENST00000416935.2_Nonsense_Mutation_p.R605*|KIRREL_ENST00000392272.2_Nonsense_Mutation_p.R602*			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	705					excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CCCCACCTACCGACTGGGCTA	0.612																																																0			1											36.0	38.0	37.0					1																	158064749		2203	4300	6503	156331373	SO:0001587	stop_gained	55243			AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.2113C>T	1.37:g.158064749C>T	ENSP00000352138:p.Arg705*		156331373	Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Nonsense_Mutation	SNP	superfamily_SSF48726,HMMPfam_V-set,HMMPfam_I-set,HMMSmart_IGc2,HMMPfam_ig,HMMSmart_IG	p.R541*	ENST00000359209.6	37	c.1621	CCDS1172.2	1	.	.	.	.	.	.	.	.	.	.	C	43	10.098077	0.99336	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	.	.	.	5.0	4.02	0.46733	.	0.000000	0.36703	N	0.002447	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3213	12.5348	0.56137	0.0:0.8308:0.1691:0.0	.	.	.	.	X	541;721;602;705;605;519	.	ENSP00000352138:R705X	R	+	1	2	KIRREL	156331373	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.459000	0.35234	2.319000	0.78375	0.561000	0.74099	CGA	-	NULL		0.612	KIRREL-001	KNOWN	basic|CCDS	protein_coding	KIRREL	protein_coding	OTTHUMT00000058342.3	C	NM_018240		156331373	+1	no_errors	NM_018240	genbank	human	validated	54_36p	nonsense	SNP	1.000	T
OR10K1	391109	genome.wustl.edu	37	1	158435980	158435980	+	Missense_Mutation	SNP	C	C	T			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr1:158435980C>T	ENST00000289451.2	+	1	709	c.629C>T	c.(628-630)cCt>cTt	p.P210L		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	210						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)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TTGGTCATTCCTCTGCTACTT	0.483																																																0			1											147.0	141.0	143.0					1																	158435980		2203	4300	6503	156702604	SO:0001583	missense	391109			AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"""GPCR / Class A : Olfactory receptors"""	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.629C>T	1.37:g.158435980C>T	ENSP00000289451:p.Pro210Leu		156702604	Q6IFS2	Missense_Mutation	SNP	PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1	p.P210L	ENST00000289451.2	37	c.629	CCDS30897.1	1	.	.	.	.	.	.	.	.	.	.	c	15.31	2.796936	0.50208	.	.	ENSG00000173285	ENST00000289451	T	0.56103	0.48	4.24	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42682	D	0.000670	T	0.68659	0.3025	M	0.83012	2.62	0.34802	D	0.73682	D	0.89917	1.0	D	0.97110	1.0	T	0.76302	-0.3009	10	0.87932	D	0	.	15.5475	0.76118	0.0:1.0:0.0:0.0	.	210	Q8NGX5	O10K1_HUMAN	L	210	ENSP00000289451:P210L	ENSP00000289451:P210L	P	+	2	0	OR10K1	156702604	0.050000	0.20438	0.253000	0.24343	0.257000	0.26127	2.251000	0.43187	2.160000	0.67779	0.557000	0.71058	CCT	-	superfamily_SSF81321,HMMPfam_7tm_1		0.483	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10K1	protein_coding	OTTHUMT00000046367.1	C			156702604	+1	no_errors	NM_001004473	genbank	human	provisional	54_36p	missense	SNP	0.002	T
OR10X1	128367	genome.wustl.edu	37	1	158549276	158549276	+	Silent	SNP	G	G	T	rs148984136		TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr1:158549276G>T	ENST00000368150.1	-	1	413	c.414C>A	c.(412-414)cgC>cgA	p.R138R		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	138						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					TGGCCAGGAAGCGGTCATATC	0.453																																																0			1											82.0	83.0	82.0					1																	158549276		2203	4300	6503	156815900	SO:0001819	synonymous_variant	128367			BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"""GPCR / Class A : Olfactory receptors"""	14995	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily X, member 1"""	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.414C>A	1.37:g.158549276G>T			156815900	Q6IFR8	Silent	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.R138	ENST00000368150.1	37	c.414	CCDS30900.1	1																																																																																			-	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1		0.453	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10X1	protein_coding	OTTHUMT00000051850.2	G	NM_001004477		156815900	-1	no_errors	NM_001004477	genbank	human	provisional	54_36p	silent	SNP	0.736	T
SCN2A	6326	genome.wustl.edu	37	2	166243403	166243403	+	Missense_Mutation	SNP	A	A	G			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr2:166243403A>G	ENST00000375437.2	+	26	4989	c.4699A>G	c.(4699-4701)Aat>Gat	p.N1567D	SCN2A_ENST00000357398.3_Missense_Mutation_p.N1567D|SCN2A_ENST00000375427.2_Missense_Mutation_p.N1567D|SCN2A_ENST00000283256.6_Missense_Mutation_p.N1567D	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1567					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTACTGGATTAATCTGGTGTT	0.378																																																0			2											220.0	202.0	208.0					2																	166243403		2203	4300	6503	165951649	SO:0001583	missense	6326			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.4699A>G	2.37:g.166243403A>G	ENSP00000364586:p.Asn1567Asp		165951649	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,HMMSmart_SM00015,HMMPfam_IQ	p.N1567D	ENST00000375437.2	37	c.4699	CCDS33314.1	2	.	.	.	.	.	.	.	.	.	.	A	27.1	4.796466	0.90453	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.96967	-4.19;-4.19;-4.19;-4.19	5.17	5.17	0.71159	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97867	0.9299	M	0.77820	2.39	0.58432	D	0.999997	P;D	0.71674	0.913;0.998	P;D	0.87578	0.731;0.998	D	0.98574	1.0647	10	0.62326	D	0.03	.	15.0121	0.71557	1.0:0.0:0.0:0.0	.	1567;1567	Q99250-2;Q99250	.;SCN2A_HUMAN	D	1567	ENSP00000364586:N1567D;ENSP00000349973:N1567D;ENSP00000283256:N1567D;ENSP00000364576:N1567D	ENSP00000283256:N1567D	N	+	1	0	SCN2A	165951649	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.339000	0.96797	1.957000	0.56846	0.528000	0.53228	AAT	-	superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans		0.378	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	protein_coding	OTTHUMT00000102659.2	A	NM_021007		165951649	+1	no_errors	NM_001040142	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
SCN1A	6323	genome.wustl.edu	37	2	166897912	166897912	+	Nonsense_Mutation	SNP	C	C	T			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr2:166897912C>T	ENST00000303395.4	-	13	2243	c.2244G>A	c.(2242-2244)tgG>tgA	p.W748*	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.W737*|SCN1A_ENST00000409050.1_Nonsense_Mutation_p.W720*|SCN1A_ENST00000423058.2_Nonsense_Mutation_p.W748*|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	748					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)	GAGAACAGTCCCAGATTAAGA	0.368																																																0			2											94.0	101.0	99.0					2																	166897912		2203	4300	6503	166606158	SO:0001587	stop_gained	6323			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.2244G>A	2.37:g.166897912C>T	ENSP00000303540:p.Trp748*		166606158	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Nonsense_Mutation	SNP	superfamily_SSF81324,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,HMMSmart_IQ,HMMPfam_IQ,PatternScan_RIBONUCLEASE_P	p.W737*	ENST00000303395.4	37	c.2211	CCDS54413.1	2	.	.	.	.	.	.	.	.	.	.	C	40	7.944415	0.98574	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	.	.	.	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.8328	0.96642	0.0:1.0:0.0:0.0	.	.	.	.	X	748;748;737;720	.	ENSP00000303540:W748X	W	-	3	0	SCN1A	166606158	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.051000	0.71072	2.758000	0.94735	0.591000	0.81541	TGG	-	NULL		0.368	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	protein_coding	OTTHUMT00000102661.1	C	NM_006920		166606158	-1	no_errors	NM_006920	genbank	human	validated	54_36p	nonsense	SNP	1.000	T
SCN9A	6335	genome.wustl.edu	37	2	167160544	167160544	+	Intron	SNP	G	G	C			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr2:167160544G>C	ENST00000409435.1	-	5	688				SCN9A_ENST00000375387.4_Missense_Mutation_p.P230A|SCN9A_ENST00000409672.1_Intron|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Intron			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit						behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTCTCACCTGGAATGACTGAA	0.373																																																0			2																																								166868790	SO:0001627	intron_variant	6335			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.688+203C>G	2.37:g.167160544G>C			166868790	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,HMMSmart_SM00015,HMMPfam_IQ	p.P230A	ENST00000409435.1	37	c.688	CCDS46441.1	2	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516104	0.85495	.	.	ENSG00000169432	ENST00000375387;ENST00000454569;ENST00000452182	D;D;D	0.98747	-5.11;-5.11;-5.11	5.82	5.82	0.92795	Ion transport (1);	.	.	.	.	D	0.98861	0.9615	.	.	.	0.80722	D	1	P;P	0.49862	0.754;0.929	P;P	0.57425	0.82;0.733	D	0.99709	1.1006	8	0.87932	D	0	.	17.255	0.87053	0.0:0.0:1.0:0.0	.	229;230	Q15858;E9PF08	SCN9A_HUMAN;.	A	230;94;94	ENSP00000364536:P230A;ENSP00000413212:P94A;ENSP00000393141:P94A	ENSP00000364536:P230A	P	-	1	0	SCN9A	166868790	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.496000	0.97967	2.752000	0.94435	0.655000	0.94253	CCA	-	superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans		0.373	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	protein_coding	OTTHUMT00000333639.1	G	NM_002977		166868790	-1	no_errors	ENST00000375387	ensembl	human	known	54_36p	missense	SNP	1.000	C
TTN	7273	genome.wustl.edu	37	2	179629408	179629408	+	Silent	SNP	C	C	A			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr2:179629408C>A	ENST00000591111.1	-	42	10058	c.9834G>T	c.(9832-9834)ctG>ctT	p.L3278L	TTN_ENST00000359218.5_Silent_p.L3232L|TTN_ENST00000460472.2_Silent_p.L3232L|TTN_ENST00000360870.5_Silent_p.L3278L|TTN_ENST00000342175.6_Silent_p.L3232L|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Silent_p.L3278L|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342992.6_Silent_p.L3278L|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13605	Ig-like 19.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGTGGAAAGCAGCTGCTCTT	0.512																																																0			2											118.0	118.0	118.0					2																	179629408		2203	4300	6503	179337653	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.9834G>T	2.37:g.179629408C>A			179337653	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2,HMMSmart_IG,HMMPfam_Titin_Z,HMMPfam_ig,PatternScan_IG_MHC,PatternScan_THIOL_PROTEASE_HIS	p.L3278	ENST00000591111.1	37	c.9834		2																																																																																			-	superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2		0.512	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179337653	-1	no_errors	NM_133379	genbank	human	reviewed	54_36p	silent	SNP	0.990	A
EIF4G1	1981	genome.wustl.edu	37	3	184052592	184052592	+	Missense_Mutation	SNP	A	A	G			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr3:184052592A>G	ENST00000346169.2	+	33	4967	c.4696A>G	c.(4696-4698)Agc>Ggc	p.S1566G	FAM131A_ENST00000418281.1_5'Flank|EIF4G1_ENST00000414031.1_Missense_Mutation_p.S1526G|EIF4G1_ENST00000382330.3_Missense_Mutation_p.S1573G|EIF4G1_ENST00000319274.6_Missense_Mutation_p.S1566G|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_Missense_Mutation_p.S1403G|EIF4G1_ENST00000411531.1_Missense_Mutation_p.S1527G|EIF4G1_ENST00000392537.2_Missense_Mutation_p.S1479G|EIF4G1_ENST00000435046.2_Missense_Mutation_p.S1370G|EIF4G1_ENST00000350481.5_Missense_Mutation_p.S1402G|EIF4G1_ENST00000427845.1_Missense_Mutation_p.S1480G|FAM131A_ENST00000383847.2_5'Flank|EIF4G1_ENST00000352767.3_Missense_Mutation_p.S1573G|EIF4G1_ENST00000424196.1_Missense_Mutation_p.S1573G|EIF4G1_ENST00000342981.4_Missense_Mutation_p.S1567G|EIF4G1_ENST00000434061.2_Missense_Mutation_p.S1371G|FAM131A_ENST00000340957.5_5'Flank|FAM131A_ENST00000450976.1_5'Flank	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1566	EIF4A-binding.|W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTGGGAGAGTAGCAAGGACCC	0.567																																																0			3											125.0	110.0	115.0					3																	184052592		2203	4300	6503	185535286	SO:0001583	missense	1981			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.4696A>G	3.37:g.184052592A>G	ENSP00000316879:p.Ser1566Gly		185535286	D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	superfamily_ARM repeat,HMMPfam_MIF4G,HMMSmart_SM00543,HMMPfam_MA3,HMMSmart_SM00544,HMMSmart_SM00515,HMMPfam_W2	p.S1566G	ENST00000346169.2	37	c.4696	CCDS3259.1	3	.	.	.	.	.	.	.	.	.	.	A	18.41	3.617261	0.66672	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	4.15	4.15	0.48705	eIF4-gamma/eIF5/eIF2-epsilon (3);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	D	0.89160	0.6636	M	0.81802	2.56	0.80722	D	1	P;P;P	0.45283	0.855;0.768;0.768	P;P;P	0.57324	0.818;0.705;0.705	D	0.90284	0.4317	10	0.66056	D	0.02	-7.1502	12.3358	0.55067	1.0:0.0:0.0:0.0	.	1573;1567;1566	E9PFM1;D3DNT2;Q04637	.;.;IF4G1_HUMAN	G	1566;1526;1479;1573;1402;1573;1480;1567;1566;1573;1527;1403;1371;1370	ENSP00000316879:S1566G;ENSP00000391935:S1526G;ENSP00000376320:S1479G;ENSP00000371767:S1573G;ENSP00000317600:S1402G;ENSP00000338020:S1573G;ENSP00000407682:S1480G;ENSP00000343450:S1567G;ENSP00000323737:S1566G;ENSP00000416255:S1573G;ENSP00000395974:S1527G;ENSP00000399858:S1403G;ENSP00000411826:S1371G;ENSP00000404754:S1370G	ENSP00000323737:S1566G	S	+	1	0	EIF4G1	185535286	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	9.014000	0.93635	1.747000	0.51819	0.454000	0.30748	AGC	-	superfamily_ARM repeat,HMMSmart_SM00515,HMMPfam_W2		0.567	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	EIF4G1	protein_coding	OTTHUMT00000345733.1	A	NM_182917		185535286	+1	no_errors	NM_182917	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
