#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
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	G	G	A			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	G	G					Unknown	Invalid:failed_liftOver	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chrUnknown:0G>A								None (None upstream) : None (None downstream)																								0.0																																																0			MT																																								4721	SO:0001628	intergenic_variant	0																															Unknown.37:g.0G>A			4721		Nonsense_Mutation	SNP	HMMPfam_Oxidored_q1,HMMPfam_NADH_dehy_S2_C	p.W84*		37	c.251		MT																																																																																			-	HMMPfam_Oxidored_q1	0	0					MT-ND2			G			4721	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000361453	ensembl	human	known	54_36p	nonsense	SNP	NULL	A
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	G	G	A			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	G	G					Unknown	Invalid:failed_liftOver	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chrUnknown:0G>A								None (None upstream) : None (None downstream)																								0.0																																																0			MT																																								12765	SO:0001628	intergenic_variant	4540																															Unknown.37:g.0G>A			12765		Missense_Mutation	SNP	HMMPfam_Oxidored_q1_N,HMMPfam_Oxidored_q1,HMMPfam_NADH5_C	p.G143D		37	c.428		MT																																																																																			-	HMMPfam_Oxidored_q1	0	0					MT-ND5			G			12765	+1	no_errors	ENST00000361567	ensembl	human	known	54_36p	missense	SNP	NULL	A
DMRT1	1761	genome.wustl.edu	37	9	916902	916902	+	Missense_Mutation	SNP	C	C	A	rs143383634		TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr9:916902C>A	ENST00000382276.3	+	4	1111	c.962C>A	c.(961-963)gCg>gAg	p.A321E	DMRT1_ENST00000569227.1_Missense_Mutation_p.A163E	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	321					cell morphogenesis (GO:0000902)|germ cell migration (GO:0008354)|intracellular signal transduction (GO:0035556)|male germ cell proliferation (GO:0002176)|male sex determination (GO:0030238)|male sex differentiation (GO:0046661)|negative regulation of meiosis (GO:0045835)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oocyte development (GO:0048599)|positive regulation of male gonad development (GO:2000020)|positive regulation of meiosis I (GO:0060903)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of nodal signaling pathway (GO:1900107)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		GAAGCCAGGGCGAGCGGTAGG	0.532																																																0			9											80.0	69.0	73.0					9																	916902		2203	4300	6503	906902	SO:0001583	missense	1761			AF130728	CCDS6442.1	9p24.3	2014-01-21			ENSG00000137090	ENSG00000137090			2934	protein-coding gene	gene with protein product	"""DM domain expressed in testis 1"""	602424				9490411, 10332030	Standard	XM_006716732		Approved	DMT1, CT154	uc003zgv.3	Q9Y5R6	OTTHUMG00000019435	ENST00000382276.3:c.962C>A	9.37:g.916902C>A	ENSP00000371711:p.Ala321Glu		906902	B2R913|Q6T1H8|Q6T1H9|Q8IW77	Missense_Mutation	SNP	superfamily_Cysteine-rich DNA binding domain (DM domain),HMMPfam_DM,HMMSmart_SM00301,PatternScan_DM_1	p.A321E	ENST00000382276.3	37	c.962	CCDS6442.1	9	.	.	.	.	.	.	.	.	.	.	C	10.88	1.474379	0.26423	.	.	ENSG00000137090	ENST00000382276	T	0.36340	1.26	5.44	4.55	0.56014	.	2.630790	0.01150	N	0.006382	T	0.55033	0.1895	M	0.86268	2.805	0.38074	D	0.936473	P	0.44877	0.845	P	0.44477	0.451	T	0.49466	-0.8937	10	0.37606	T	0.19	.	13.1186	0.59313	0.0:0.9256:0.0:0.0744	.	321	Q9Y5R6	DMRT1_HUMAN	E	321	ENSP00000371711:A321E	ENSP00000371711:A321E	A	+	2	0	DMRT1	906902	0.671000	0.27521	0.302000	0.25058	0.004000	0.04260	1.221000	0.32503	1.446000	0.47643	-0.126000	0.14955	GCG	-	NULL		0.532	DMRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMRT1	protein_coding	OTTHUMT00000051489.2	C	NM_021951		906902	+1	no_errors	NM_021951	genbank	human	reviewed	54_36p	missense	SNP	0.895	A
MUC6	4588	genome.wustl.edu	37	11	1016890	1016890	+	Missense_Mutation	SNP	G	G	A	rs113508205		TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr11:1016890G>A	ENST00000421673.2	-	31	5961	c.5911C>T	c.(5911-5913)Cca>Tca	p.P1971S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1971	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCTGTAGGTGGGGAGTGTGTG	0.592																																																0			11											1028.0	1042.0	1037.0					11																	1016890		2203	4298	6501	1006890	SO:0001583	missense	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5911C>T	11.37:g.1016890G>A	ENSP00000406861:p.Pro1971Ser		1006890	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	HMMSmart_SM00216,HMMPfam_VWD,HMMPfam_C8,superfamily_Serine proterase inhibitors,HMMPfam_TIL,HMMSmart_SM00215,HMMSmart_SM00041	p.P1971S	ENST00000421673.2	37	c.5911	CCDS44513.1	11	.	.	.	.	.	.	.	.	.	.	G	13.84	2.358370	0.41801	.	.	ENSG00000184956	ENST00000421673	T	0.11495	2.77	3.08	-6.16	0.02098	.	.	.	.	.	T	0.04952	0.0133	L	0.41710	1.295	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.49312	-0.8953	9	0.06365	T	0.9	.	0.1675	0.00110	0.2756:0.1654:0.1977:0.3614	.	1971	Q6W4X9	MUC6_HUMAN	S	1971	ENSP00000406861:P1971S	ENSP00000406861:P1971S	P	-	1	0	MUC6	1006890	0.000000	0.05858	0.000000	0.03702	0.393000	0.30537	-6.290000	0.00072	-1.753000	0.01323	0.306000	0.20318	CCA	-	NULL		0.592	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	protein_coding	OTTHUMT00000382120.2	G	XM_290540		1006890	-1	no_errors	NM_005961	genbank	human	validated	54_36p	missense	SNP	0.000	A
CLSTN3	9746	genome.wustl.edu	37	12	7301637	7301637	+	Silent	SNP	C	C	T	rs144078453		TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr12:7301637C>T	ENST00000266546.6	+	13	2367	c.1917C>T	c.(1915-1917)gaC>gaT	p.D639D	CLSTN3_ENST00000537408.1_Silent_p.D651D	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	639					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TTCAGCCTGACGCCCCCCAGA	0.562																																																0			12						C		0,4406		0,0,2203	90.0	71.0	77.0		1917	-7.7	0.3	12	dbSNP_134	77	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	CLSTN3	NM_014718.3		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		639/957	7301637	3,13003	2203	4300	6503	7192904	SO:0001819	synonymous_variant	9746			AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.1917C>T	12.37:g.7301637C>T			7192904	D3DUT6|O94831|Q2T9J5|Q5UE57	Silent	SNP	PatternScan_CADHERIN_1,superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA,superfamily_ConA_like_lec_gl	p.D639	ENST00000266546.6	37	c.1917	CCDS8575.1	12																																																																																			-	NULL		0.562	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN3	protein_coding	OTTHUMT00000398560.2	C	NM_014718		7192904	+1	no_errors	NM_014718	genbank	human	validated	54_36p	silent	SNP	0.757	T
TP53	7157	genome.wustl.edu	37	17	7577099	7577099	+	Missense_Mutation	SNP	C	C	A	rs121912660		TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr17:7577099C>A	ENST00000269305.4	-	8	1028	c.839G>T	c.(838-840)aGa>aTa	p.R280I	TP53_ENST00000359597.4_Missense_Mutation_p.R280I|TP53_ENST00000420246.2_Missense_Mutation_p.R280I|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R280I|TP53_ENST00000445888.2_Missense_Mutation_p.R280I	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	280	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1694291}.|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1631151}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCGCCGGTCTCTCCCAGGACA	0.542		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	154	Substitution - Missense(130)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(2)	urinary_tract(50)|breast(22)|lung(20)|upper_aerodigestive_tract(14)|haematopoietic_and_lymphoid_tissue(8)|large_intestine(5)|central_nervous_system(5)|stomach(4)|biliary_tract(4)|oesophagus(4)|skin(4)|ovary(4)|bone(4)|prostate(3)|small_intestine(1)|endometrium(1)|vagina(1)	17	GRCh37	CM993218	TP53	M	rs121912660						77.0	67.0	70.0					17																	7577099		2203	4300	6503	7517824	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.839G>T	17.37:g.7577099C>A	ENSP00000269305:p.Arg280Ile		7517824	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain	p.R280I	ENST00000269305.4	37	c.839	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	34	5.380644	0.95945	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99885	0.9945	M	0.92649	3.33	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.995	D;D;D;D	0.91635	0.99;0.999;0.99;0.99	D	0.96400	0.9296	10	0.87932	D	0	-21.0303	16.1198	0.81342	0.0:1.0:0.0:0.0	.	280;280;280;280	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	I	280;280;280;280;280;269;148	ENSP00000352610:R280I;ENSP00000269305:R280I;ENSP00000398846:R280I;ENSP00000391127:R280I;ENSP00000391478:R280I;ENSP00000425104:R148I	ENSP00000269305:R280I	R	-	2	0	TP53	7517824	0.978000	0.34361	1.000000	0.80357	0.980000	0.70556	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	AGA	-	HMMPfam_P53,superfamily_p53-like transcription factors		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546		7517824	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
OR10A3	26496	genome.wustl.edu	37	11	7961026	7961026	+	Silent	SNP	G	G	A			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr11:7961026G>A	ENST00000360759.3	-	1	115	c.42C>T	c.(40-42)ctC>ctT	p.L14L		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	14					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAAAGCCCAGGAGGATGAATT	0.398																																																0			11											65.0	68.0	67.0					11																	7961026		2201	4296	6497	7917602	SO:0001819	synonymous_variant	26496			BK004404	CCDS31421.1	11p15.4	2012-08-09			ENSG00000170683	ENSG00000170683		"""GPCR / Class A : Olfactory receptors"""	8162	protein-coding gene	gene with protein product						1370859	Standard	NM_001003745		Approved	HTPCRX12, HSHTPCRX12	uc010rbi.2	P58181	OTTHUMG00000165672	ENST00000360759.3:c.42C>T	11.37:g.7961026G>A			7917602	B9EH39|Q6IF58|Q96R11	Silent	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.L14	ENST00000360759.3	37	c.42	CCDS31421.1	11																																																																																			-	superfamily_Family A G protein-coupled receptor-like		0.398	OR10A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10A3	protein_coding	OTTHUMT00000385704.1	G	NM_001003745		7917602	-1	no_errors	NM_001003745	genbank	human	provisional	54_36p	silent	SNP	0.671	A
TCEB1P3	644540	genome.wustl.edu	37	10	10216485	10216485	+	IGR	SNP	A	A	G			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr10:10216485A>G								RP5-933E2.1 (111020 upstream) : Y_RNA (58088 downstream)																							ATTGCACCTGAAATTGCACTA	0.368																																																0			10																																								10256491	SO:0001628	intergenic_variant	644540																															10.37:g.10216485A>G			10256491		Missense_Mutation	SNP	HMMSmart_SM00512,HMMPfam_Skp1_POZ,superfamily_POZ domain	p.E98G		37	c.293		10																																																																																			-	HMMSmart_SM00512,superfamily_POZ domain	0	0.368					TCEB1P3			A			10256491	+1	pseudogene	XM_927664	genbank	human	model	54_36p	missense	SNP	1.000	G
ICAM3	3385	genome.wustl.edu	37	19	10445863	10445863	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr19:10445863G>T	ENST00000160262.5	-	4	1024	c.816C>A	c.(814-816)gaC>gaA	p.D272E	ICAM3_ENST00000589261.1_Missense_Mutation_p.D195E|RAVER1_ENST00000293677.6_5'Flank	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	272	Ig-like C2-type 3.				extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			CCGTTAGCGTGTCCCCGTGGT	0.662																																																0			19											110.0	120.0	117.0					19																	10445863		2203	4300	6503	10306863	SO:0001583	missense	3385				CCDS12235.1	19p13.3-p13.2	2013-01-11				ENSG00000076662		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5346	protein-coding gene	gene with protein product		146631				1448174	Standard	NM_002162		Approved	CDW50, ICAM-R, CD50	uc002mob.2	P32942		ENST00000160262.5:c.816C>A	19.37:g.10445863G>T	ENSP00000160262:p.Asp272Glu		10306863	Q6PD68	Missense_Mutation	SNP	HMMPfam_ICAM_N,superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig	p.D272E	ENST00000160262.5	37	c.816	CCDS12235.1	19	.	.	.	.	.	.	.	.	.	.	G	21.9	4.218975	0.79464	.	.	ENSG00000076662	ENST00000160262	T	0.03831	3.79	5.15	4.1	0.47936	Immunoglobulin-like fold (1);	0.345909	0.27258	N	0.020197	T	0.11922	0.0290	M	0.83774	2.66	0.22457	N	0.999086	P	0.39576	0.679	P	0.44990	0.466	T	0.04693	-1.0933	10	0.72032	D	0.01	-54.7429	8.9164	0.35585	0.1011:0.0:0.8989:0.0	.	272	P32942	ICAM3_HUMAN	E	272	ENSP00000160262:D272E	ENSP00000160262:D272E	D	-	3	2	ICAM3	10306863	0.816000	0.29132	0.553000	0.28255	0.005000	0.04900	1.632000	0.37102	2.543000	0.85770	0.462000	0.41574	GAC	-	superfamily_SSF48726		0.662	ICAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICAM3	protein_coding	OTTHUMT00000451234.1	G			10306863	-1	no_errors	NM_002162	genbank	human	reviewed	54_36p	missense	SNP	0.135	T
MYH2	4620	genome.wustl.edu	37	17	10443994	10443994	+	Missense_Mutation	SNP	T	T	G			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr17:10443994T>G	ENST00000245503.5	-	11	1309	c.925A>C	c.(925-927)Aac>Cac	p.N309H	MYH2_ENST00000397183.2_Missense_Mutation_p.N309H|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Missense_Mutation_p.N309H|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	309	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCATATGGGTTCGTGGTAATC	0.388																																																0			17											97.0	89.0	92.0					17																	10443994		2203	4300	6503	10384719	SO:0001583	missense	4620				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.925A>C	17.37:g.10443994T>G	ENSP00000245503:p.Asn309His		10384719	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	HMMPfam_Myosin_N,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_IQ,HMMPfam_Myosin_tail_1	p.N309H	ENST00000245503.5	37	c.925	CCDS11156.1	17	.	.	.	.	.	.	.	.	.	.	T	25.1	4.606621	0.87157	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183	D;D;D	0.87809	-2.3;-2.3;-2.3	5.25	5.25	0.73442	Myosin head, motor domain (2);	0.000000	0.42821	U	0.000653	D	0.93969	0.8069	M	0.86502	2.82	0.58432	D	0.99999	D;D	0.89917	0.998;1.0	D;D	0.97110	0.997;1.0	D	0.94889	0.8046	10	0.87932	D	0	.	14.502	0.67729	0.0:0.0:0.0:1.0	.	309;309	Q567P6;Q9UKX2	.;MYH2_HUMAN	H	309	ENSP00000433944:N309H;ENSP00000245503:N309H;ENSP00000380367:N309H	ENSP00000245503:N309H	N	-	1	0	MYH2	10384719	1.000000	0.71417	0.967000	0.41034	0.996000	0.88848	7.857000	0.86963	2.214000	0.71695	0.528000	0.53228	AAC	-	superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head		0.388	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	protein_coding	OTTHUMT00000252726.3	T	NM_017534		10384719	-1	no_errors	NM_001100112	genbank	human	validated	54_36p	missense	SNP	1.000	G
LRP6	4040	genome.wustl.edu	37	12	12311941	12311941	+	Silent	SNP	G	G	T			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr12:12311941G>T	ENST00000261349.4	-	12	2689	c.2613C>A	c.(2611-2613)ggC>ggA	p.G871G	LRP6_ENST00000543091.1_Silent_p.G871G	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	871	Beta-propeller 3.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				AATCCAAATGGCCCTGAATGA	0.507																																																0			12											238.0	165.0	190.0					12																	12311941		2203	4300	6503	12203208	SO:0001819	synonymous_variant	4040			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.2613C>A	12.37:g.12311941G>T			12203208	Q17RZ2	Silent	SNP	superfamily_YWTD domain,HMMSmart_SM00135,HMMPfam_Ldl_recept_b,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_2,superfamily_LDL receptor-like module,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1	p.G871	ENST00000261349.4	37	c.2613	CCDS8647.1	12																																																																																			-	superfamily_YWTD domain,HMMPfam_Ldl_recept_b		0.507	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP6	protein_coding	OTTHUMT00000400137.1	G			12203208	-1	no_errors	NM_002336	genbank	human	validated	54_36p	silent	SNP	1.000	T
CTPS2	56474	genome.wustl.edu	37	X	16701313	16701313	+	Silent	SNP	C	C	G			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chrX:16701313C>G	ENST00000443824.1	-	9	1652	c.909G>C	c.(907-909)ctG>ctC	p.L303L	CTPS2_ENST00000380241.3_Silent_p.L303L|CTPS2_ENST00000359276.4_Silent_p.L303L	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	303	Glutamine amidotransferase type-1. {ECO:0000255|PROSITE-ProRule:PRU00605}.				'de novo' CTP biosynthetic process (GO:0044210)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP synthase activity (GO:0003883)			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					ATTTGCCAACCAGGGCTATGG	0.443																																																0			X											196.0	166.0	176.0					X																	16701313		2203	4300	6503	16611234	SO:0001819	synonymous_variant	56474			AF086422	CCDS14175.1	Xp22	2012-05-02	2012-05-02		ENSG00000047230	ENSG00000047230	6.3.4.2		2520	protein-coding gene	gene with protein product		300380	"""CTP synthase II"""			10899599	Standard	NM_001144002		Approved		uc004cxm.3	Q9NRF8	OTTHUMG00000021193	ENST00000443824.1:c.909G>C	X.37:g.16701313C>G			16611234	B3KWM2|Q9BRI0|Q9H809|Q9H8K9	Silent	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_CTP_synth_N,superfamily_Class I glutamine amidotransferase-like,HMMPfam_GATase	p.L303	ENST00000443824.1	37	c.909	CCDS14175.1	X																																																																																			-	superfamily_Class I glutamine amidotransferase-like		0.443	CTPS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CTPS2	protein_coding	OTTHUMT00000055906.1	C	NM_019857		16611234	-1	no_errors	NM_019857	genbank	human	reviewed	54_36p	silent	SNP	1.000	G
SLC47A1	55244	genome.wustl.edu	37	17	19451412	19451412	+	Silent	SNP	C	C	T			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr17:19451412C>T	ENST00000270570.4	+	4	507	c.421C>T	c.(421-423)Ctg>Ttg	p.L141L	SLC47A1_ENST00000457293.1_Silent_p.L141L|SLC47A1_ENST00000395585.1_Silent_p.L141L|SLC47A1_ENST00000571335.1_5'UTR|SLC47A1_ENST00000575023.1_Silent_p.L141L|SLC47A1_ENST00000584348.1_3'UTR|SLC47A1_ENST00000436810.2_Silent_p.L118L|SLC47A1_ENST00000542886.1_Silent_p.L141L	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	141					organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	CCAGCACATCCTGCTGCTCTT	0.602																																																0			17											102.0	83.0	89.0					17																	19451412		2203	4300	6503	19392004	SO:0001819	synonymous_variant	55244				CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"""Solute carriers"""	25588	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 1"""	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.421C>T	17.37:g.19451412C>T			19392004	Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Silent	SNP	HMMPfam_MatE	p.L141	ENST00000270570.4	37	c.421	CCDS11209.1	17																																																																																			-	HMMPfam_MatE		0.602	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC47A1	protein_coding	OTTHUMT00000132250.1	C	NM_018242		19392004	+1	no_errors	NM_018242	genbank	human	validated	54_36p	silent	SNP	1.000	T
SLCO1C1	53919	genome.wustl.edu	37	12	20885993	20885993	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr12:20885993G>C	ENST00000266509.2	+	10	1705	c.1337G>C	c.(1336-1338)gGc>gCc	p.G446A	SLCO1C1_ENST00000545604.1_Missense_Mutation_p.G446A|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.G446A|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.G397A|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.G328A	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	446					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	TTTGCACTGGGCTGTGAAAAT	0.383																																																0			12											191.0	171.0	178.0					12																	20885993		2203	4300	6503	20777260	SO:0001583	missense	53919			AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1337G>C	12.37:g.20885993G>C	ENSP00000266509:p.Gly446Ala		20777260	B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	superfamily_MFS_gen_substrate_transporter,HMMPfam_OATP,superfamily_SSF100895,HMMSmart_KAZAL,HMMPfam_Kazal_2	p.G446A	ENST00000266509.2	37	c.1337	CCDS8683.1	12	.	.	.	.	.	.	.	.	.	.	G	13.05	2.121721	0.37436	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;1.01	5.11	5.11	0.69529	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.051465	0.85682	D	0.000000	T	0.71039	0.3293	M	0.83692	2.655	0.80722	D	1	D;P;B;B	0.55172	0.97;0.774;0.417;0.417	P;P;B;B	0.56700	0.804;0.593;0.261;0.345	T	0.73222	-0.4051	10	0.44086	T	0.13	.	18.7166	0.91678	0.0:0.0:1.0:0.0	.	328;397;446;446	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	A	446;397;446;446;328	ENSP00000444149:G446A;ENSP00000438665:G397A;ENSP00000266509:G446A;ENSP00000370964:G446A;ENSP00000444527:G328A	ENSP00000266509:G446A	G	+	2	0	SLCO1C1	20777260	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.225000	0.95219	2.641000	0.89580	0.591000	0.81541	GGC	-	superfamily_MFS_gen_substrate_transporter,HMMPfam_OATP		0.383	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1C1	protein_coding	OTTHUMT00000401765.1	G	NM_017435		20777260	+1	no_errors	NM_017435	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
RCAN3	11123	genome.wustl.edu	37	1	24841022	24841022	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr1:24841022G>A	ENST00000374395.4	+	2	473	c.160G>A	c.(160-162)Gtc>Atc	p.V54I	RCAN3_ENST00000412742.2_Missense_Mutation_p.V54I|RCAN3_ENST00000374393.2_Missense_Mutation_p.V54I|RCAN3_ENST00000436717.2_Missense_Mutation_p.V54I|RCAN3_ENST00000538532.1_Missense_Mutation_p.V54I	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	Q9UKA8	RCAN3_HUMAN	RCAN family member 3	54					anatomical structure morphogenesis (GO:0009653)|calcium-mediated signaling (GO:0019722)		RNA binding (GO:0003723)|troponin I binding (GO:0031013)	p.V54I(1)		central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		TGCTTGCAGCGTCCATGAAGC	0.423																																																1	Substitution - Missense(1)	central_nervous_system(1)	1											175.0	137.0	150.0					1																	24841022		2203	4300	6503	24713609	SO:0001583	missense	11123				CCDS254.1, CCDS57980.1, CCDS57981.1, CCDS57982.1, CCDS72730.1	1p35.3-p33	2008-02-05	2007-06-26	2007-06-26	ENSG00000117602	ENSG00000117602			3042	protein-coding gene	gene with protein product		605860	"""Down syndrome critical region gene 1-like 2"""	DSCR1L2		10756093	Standard	NM_001251984		Approved		uc001bjj.3	Q9UKA8	OTTHUMG00000003298	ENST00000374395.4:c.160G>A	1.37:g.24841022G>A	ENSP00000363516:p.Val54Ile		24713609	A4GU14|A4LA69|E3VWE2|E5L4P0|E5L4P7|E7ENV1|E7EWD8|G1FI66|G1FLF0|Q5ECL3|Q5TGC6|Q9NUC8|Q9UKA7	Missense_Mutation	SNP	HMMPfam_Calcipressin	p.V54I	ENST00000374395.4	37	c.160	CCDS254.1	1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152876	0.78001	.	.	ENSG00000117602	ENST00000374395;ENST00000436717;ENST00000425530;ENST00000412742;ENST00000538532;ENST00000374393	T;T;T	0.52295	0.74;0.78;0.67	5.28	5.28	0.74379	.	0.061359	0.64402	D	0.000004	T	0.59878	0.2226	L	0.32530	0.975	0.58432	D	0.999998	D;P;D;D;D	0.89917	1.0;0.928;0.999;0.999;0.999	D;B;D;D;D	0.85130	0.995;0.233;0.993;0.997;0.986	T	0.63382	-0.6650	10	0.87932	D	0	-22.806	17.0855	0.86610	0.0:0.0:1.0:0.0	.	54;54;54;54;54	E7EWD8;E7ENV1;A4GU14;Q9UKA8-2;Q9UKA8	.;.;.;.;RCAN3_HUMAN	I	54	ENSP00000363516:V54I;ENSP00000414447:V54I;ENSP00000445401:V54I	ENSP00000363514:V54I	V	+	1	0	RCAN3	24713609	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	8.815000	0.91973	2.467000	0.83353	0.591000	0.81541	GTC	-	NULL		0.423	RCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCAN3	protein_coding	OTTHUMT00000009176.2	G			24713609	+1	no_errors	NM_013441	genbank	human	validated	54_36p	missense	SNP	1.000	A
LMNTD1	160492	genome.wustl.edu	37	12	25672985	25672985	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr12:25672985G>T	ENST00000282881.6	-	6	909	c.760C>A	c.(760-762)Cac>Aac	p.H254N	IFLTD1_ENST00000458174.2_Missense_Mutation_p.H275N|IFLTD1_ENST00000539744.1_Missense_Mutation_p.H157N|IFLTD1_ENST00000413632.2_Missense_Mutation_p.H235N|IFLTD1_ENST00000445693.1_Missense_Mutation_p.H191N	NM_152590.3	NP_689803.2	Q8N9Z9	LMTD1_HUMAN		254	LTD.				cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					TGCTTCCAGTGGATAGGGGTG	0.383																																																0			12											87.0	73.0	78.0					12																	25672985		2203	4300	6503	25564252	SO:0001583	missense	160492																														ENST00000282881.6:c.760C>A	12.37:g.25672985G>T	ENSP00000282881:p.His254Asn		25564252	B4DL27|B4DY70|Q8IY38	Missense_Mutation	SNP	superfamily_Lamin A/C globular tail domain,HMMPfam_IF_tail	p.H254N	ENST00000282881.6	37	c.760	CCDS8704.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.62|15.62	2.888308|2.888308	0.52014|0.52014	.|.	.|.	ENSG00000152936|ENSG00000152936	ENST00000282881;ENST00000539744;ENST00000458174;ENST00000445693;ENST00000413632;ENST00000545543|ENST00000543629	D;D;D;D;T;D|.	0.98234|.	-4.81;-4.81;-4.81;-4.81;2.28;-4.81|.	5.05|5.05	4.14|4.14	0.48551|0.48551	.|.	.|.	.|.	.|.	.|.	T|T	0.46776|0.46776	0.1410|0.1410	L|L	0.56769|0.56769	1.78|1.78	0.26877|0.26877	N|N	0.967614|0.967614	P;P;P;D|.	0.76494|.	0.782;0.877;0.927;0.999|.	B;B;P;D|.	0.72338|.	0.421;0.367;0.758;0.977|.	T|T	0.33445|0.33445	-0.9868|-0.9868	9|5	0.52906|.	T|.	0.07|.	-0.7208|-0.7208	9.5292|9.5292	0.39182|0.39182	0.0975:0.0:0.9025:0.0|0.0975:0.0:0.9025:0.0	.|.	191;275;235;254|.	Q8N9Z9-3;Q8N9Z9-5;Q8N9Z9-4;Q8N9Z9|.	.;.;.;ILFT1_HUMAN|.	N|Q	254;157;275;191;235;84|28	ENSP00000282881:H254N;ENSP00000443132:H157N;ENSP00000407353:H275N;ENSP00000407043:H191N;ENSP00000393150:H235N;ENSP00000443596:H84N|.	ENSP00000282881:H254N|.	H|P	-|-	1|2	0|0	IFLTD1|IFLTD1	25564252|25564252	0.992000|0.992000	0.36948|0.36948	0.995000|0.995000	0.50966|0.50966	0.561000|0.561000	0.35649|0.35649	1.957000|1.957000	0.40392|0.40392	2.641000|2.641000	0.89580|0.89580	0.585000|0.585000	0.79938|0.79938	CAC|CCA	-	superfamily_Lamin A/C globular tail domain,HMMPfam_IF_tail		0.383	IFLTD1-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	IFLTD1	protein_coding	OTTHUMT00000402279.1	G			25564252	-1	no_errors	NM_152590	genbank	human	validated	54_36p	missense	SNP	0.983	T
HIST1H3E	8353	genome.wustl.edu	37	6	26225385	26225385	+	Start_Codon_SNP	SNP	G	G	A	rs367877324		TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr6:26225385G>A	ENST00000360408.1	+	1	3	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_003532.2	NP_003523.1	P68431	H31_HUMAN	histone cluster 1, H3e	1					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				GATGAACTATGGCGCGTACTA	0.522																																																0			6											75.0	77.0	76.0					6																	26225385		2203	4300	6503	26333364	SO:0001582	initiator_codon_variant	8353			M60746	CCDS4596.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196966	ENSG00000274750		"""Histones / Replication-dependent"""	4769	protein-coding gene	gene with protein product		602813	"""H3 histone family, member D"", ""histone 1, H3e"""	H3FD		1916825, 12408966	Standard	NM_003532		Approved	H3/d, H3.1	uc003nhc.4	P68431	OTTHUMG00000014434	ENST00000360408.1:c.3G>A	6.37:g.26225385G>A	ENSP00000353581:p.Met1Ile		26333364	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	superfamily_Histone-fold,PatternScan_HISTONE_H3_1,HMMSmart_SM00428,HMMPfam_Histone,PatternScan_HISTONE_H3_2	p.M1I	ENST00000360408.1	37	c.3	CCDS4596.1	6	.	.	.	.	.	.	.	.	.	.	.	17.67	3.446033	0.63178	.	.	ENSG00000196966	ENST00000360408	T	0.56103	0.48	4.01	3.13	0.36017	.	.	.	.	.	T	0.55497	0.1924	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63368	-0.6653	6	0.87932	D	0	.	13.0368	0.58877	0.0:0.0:0.8373:0.1627	.	.	.	.	I	1	ENSP00000353581:M1I	ENSP00000353581:M1I	M	+	3	0	HIST1H3E	26333364	1.000000	0.71417	0.880000	0.34516	0.317000	0.28152	6.450000	0.73477	1.260000	0.44134	0.491000	0.48974	ATG	-	NULL		0.522	HIST1H3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3E	protein_coding	OTTHUMT00000040097.1	G	NM_003532	Missense_Mutation	26333364	+1	no_errors	NM_003532	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
BTN1A1	696	genome.wustl.edu	37	6	26509287	26509287	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr6:26509287A>G	ENST00000244513.6	+	7	1532	c.1466A>G	c.(1465-1467)cAg>cGg	p.Q489R		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	489						extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						GCTAATGCCCAGGACCTTTCT	0.552																																																0			6											92.0	91.0	91.0					6																	26509287		2203	4300	6503	26617266	SO:0001583	missense	696			U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.1466A>G	6.37:g.26509287A>G	ENSP00000244513:p.Gln489Arg		26617266	Q4VAN3|Q4VAN4|Q9H458	Missense_Mutation	SNP	superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMSmart_SM00406,HMMPfam_C2-set_2,HMMSmart_SM00589,HMMPfam_SPRY,HMMSmart_SM00449	p.Q489R	ENST00000244513.6	37	c.1466	CCDS4614.1	6	.	.	.	.	.	.	.	.	.	.	A	0.041	-1.285163	0.01398	.	.	ENSG00000124557	ENST00000244513;ENST00000377586	T	0.35789	1.29	5.31	-0.0983	0.13629	.	0.563622	0.16271	N	0.221773	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43669	-0.9377	10	0.16420	T	0.52	.	6.0338	0.19694	0.3625:0.469:0.1684:0.0	.	489	Q13410	BT1A1_HUMAN	R	489;457	ENSP00000244513:Q489R	ENSP00000244513:Q489R	Q	+	2	0	BTN1A1	26617266	0.000000	0.05858	0.395000	0.26283	0.427000	0.31564	-0.159000	0.10056	0.102000	0.17638	-0.291000	0.09656	CAG	-	NULL		0.552	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN1A1	protein_coding	OTTHUMT00000043776.1	A	NM_001732		26617266	+1	no_errors	NM_001732	genbank	human	validated	54_36p	missense	SNP	0.007	G
CDH9	1007	genome.wustl.edu	37	5	26881489	26881489	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr5:26881489T>C	ENST00000231021.4	-	12	2298	c.2126A>G	c.(2125-2127)aAt>aGt	p.N709S		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	709					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TACATCAATATTTTCCCACAG	0.418																																					Melanoma(8;187 585 15745 40864 52829)											0			5											157.0	150.0	152.0					5																	26881489		2203	4300	6503	26917246	SO:0001583	missense	1007			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.2126A>G	5.37:g.26881489T>C	ENSP00000231021:p.Asn709Ser		26917246	Q3B7I5	Missense_Mutation	SNP	superfamily_Cadherin,HMMSmart_CA,HMMPfam_Cadherin,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C	p.N709S	ENST00000231021.4	37	c.2126	CCDS3893.1	5	.	.	.	.	.	.	.	.	.	.	T	11.72	1.721490	0.30503	.	.	ENSG00000113100	ENST00000231021	T	0.75821	-0.97	4.96	4.96	0.65561	Cadherin, cytoplasmic domain (1);	0.132005	0.64402	D	0.000002	T	0.60495	0.2273	N	0.13168	0.305	0.50171	D	0.999858	B;B	0.25850	0.017;0.136	B;B	0.33960	0.074;0.173	T	0.56691	-0.7937	9	.	.	.	.	13.7586	0.62952	0.0:0.0:0.0:1.0	.	302;709	B4DFP0;Q9ULB4	.;CADH9_HUMAN	S	709	ENSP00000231021:N709S	.	N	-	2	0	CDH9	26917246	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.628000	0.83189	1.981000	0.57761	0.455000	0.32223	AAT	-	HMMPfam_Cadherin_C		0.418	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH9	protein_coding	OTTHUMT00000207352.1	T	NM_016279		26917246	-1	no_errors	NM_016279	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
CCDC178	374864	genome.wustl.edu	37	18	30518008	30518008	+	Silent	SNP	A	A	G			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr18:30518008A>G	ENST00000383096.3	-	23	2753	c.2571T>C	c.(2569-2571)acT>acC	p.T857T	CCDC178_ENST00000579916.1_Silent_p.T177T|CCDC178_ENST00000300227.8_Silent_p.T819T|CCDC178_ENST00000581852.1_Silent_p.T62T|CCDC178_ENST00000406524.2_Silent_p.T881T|CCDC178_ENST00000403303.1_Silent_p.T857T|RP11-746B8.1_ENST00000580366.1_RNA|CCDC178_ENST00000402325.1_Silent_p.T807T|CCDC178_ENST00000583930.1_Silent_p.T881T			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	857																	CATCTGTCAAAGTCTGGAAGA	0.343																																																0			18											172.0	156.0	161.0					18																	30518008		2203	4300	6503	28772006	SO:0001819	synonymous_variant	374864			AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.2571T>C	18.37:g.30518008A>G			28772006	A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Silent	SNP	NULL	p.T857	ENST00000383096.3	37	c.2571	CCDS42424.1	18																																																																																			-	NULL		0.343	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C18orf34	protein_coding	OTTHUMT00000255373.2	A	NM_198995		28772006	-1	no_errors	NM_001105528	genbank	human	validated	54_36p	silent	SNP	0.983	G
GNL1	2794	genome.wustl.edu	37	6	30522961	30522961	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr6:30522961G>C	ENST00000376621.3	-	3	1217	c.247C>G	c.(247-249)Ctg>Gtg	p.L83V	PRR3_ENST00000376560.3_5'Flank|PRR3_ENST00000376557.3_5'Flank	NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	83					cellular response to DNA damage stimulus (GO:0006974)|GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)|signal transduction (GO:0007165)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						TCAAAATGCAGTCGGTATCTA	0.517																																																0			6											300.0	342.0	327.0					6																	30522961		1511	2709	4220	30630940	SO:0001583	missense	2794				CCDS4680.1	6p21.3	2010-02-17			ENSG00000204590	ENSG00000204590			4413	protein-coding gene	gene with protein product		143024				8180467	Standard	NM_005275		Approved	HSR1	uc003nqh.3	P36915	OTTHUMG00000031137	ENST00000376621.3:c.247C>G	6.37:g.30522961G>C	ENSP00000365806:p.Leu83Val		30630940	B0S838|Q96CT5	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_MMR_HSR1	p.L83V	ENST00000376621.3	37	c.247	CCDS4680.1	6	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513198	0.64522	.	.	ENSG00000204590	ENST00000376621;ENST00000433809	T	0.50813	0.73	5.61	2.85	0.33270	.	0.000000	0.64402	D	0.000001	T	0.56202	0.1969	M	0.79123	2.44	0.52099	D	0.999947	D;D	0.89917	1.0;0.993	D;D	0.91635	0.999;0.981	T	0.58819	-0.7569	10	0.42905	T	0.14	-5.9944	11.1321	0.48354	0.2192:0.0:0.7808:0.0	.	81;83	B4DYK6;P36915	.;GNL1_HUMAN	V	83;81	ENSP00000365806:L83V	ENSP00000365806:L83V	L	-	1	2	GNL1	30630940	1.000000	0.71417	0.998000	0.56505	0.909000	0.53808	3.366000	0.52343	0.857000	0.35407	-0.136000	0.14681	CTG	-	NULL		0.517	GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNL1	protein_coding	OTTHUMT00000076241.2	G			30630940	-1	no_errors	NM_005275	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
KRTAP27-1	643812	genome.wustl.edu	37	21	31709853	31709853	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr21:31709853C>T	ENST00000382835.2	-	1	159	c.134G>A	c.(133-135)tGt>tAt	p.C45Y		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	45						intermediate filament (GO:0005882)				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						GTCCAGGAAACAGGTTCTGCT	0.458																																																0			21											154.0	145.0	148.0					21																	31709853		2203	4300	6503	30631724	SO:0001583	missense	643812			AB096937	CCDS33532.1	21q22.11	2007-11-23			ENSG00000206107	ENSG00000206107		"""Keratin associated proteins"""	33864	protein-coding gene	gene with protein product							Standard	NM_001077711		Approved		uc002ynx.1	Q3LI81	OTTHUMG00000059577	ENST00000382835.2:c.134G>A	21.37:g.31709853C>T	ENSP00000372286:p.Cys45Tyr		30631724		Missense_Mutation	SNP	HMMPfam_PMG	p.C45Y	ENST00000382835.2	37	c.134	CCDS33532.1	21	.	.	.	.	.	.	.	.	.	.	C	9.777	1.174338	0.21704	.	.	ENSG00000206107	ENST00000382835	T	0.03181	4.02	4.34	4.34	0.51931	.	0.491436	0.18983	N	0.125818	T	0.02688	0.0081	N	0.08118	0	0.24380	N	0.994793	B	0.06786	0.001	B	0.14578	0.011	T	0.40831	-0.9542	10	0.72032	D	0.01	-2.2242	12.6258	0.56628	0.0:1.0:0.0:0.0	.	45	Q3LI81	KR271_HUMAN	Y	45	ENSP00000372286:C45Y	ENSP00000372286:C45Y	C	-	2	0	KRTAP27-1	30631724	1.000000	0.71417	1.000000	0.80357	0.396000	0.30629	2.929000	0.48916	2.703000	0.92315	0.591000	0.81541	TGT	-	HMMPfam_PMG		0.458	KRTAP27-1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	KRTAP27-1	protein_coding	OTTHUMT00000132470.3	C	NM_001077711		30631724	-1	no_errors	NM_001077711	genbank	human	provisional	54_36p	missense	SNP	1.000	T
LY6G6C	80740	genome.wustl.edu	37	6	31687061	31687061	+	Missense_Mutation	SNP	G	G	A	rs143912436	byFrequency	TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr6:31687061G>A	ENST00000375819.2	-	3	355	c.190C>T	c.(190-192)Cgc>Tgc	p.R64C	LY6G6C_ENST00000495859.1_Missense_Mutation_p.R8C	NM_025261.2	NP_079537.1	O95867	LY66C_HUMAN	lymphocyte antigen 6 complex, locus G6C	64	UPAR/Ly6.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|large_intestine(1)|lung(1)|skin(1)	4						GTGCCACAGCGCAGATTGGAG	0.577																																																0			6							CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	126.0	114.0	118.0		190	3.1	1.0	6	dbSNP_134	118	0,8600		0,0,4300	no	missense	LY6G6C	NM_025261.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	64/126	31687061	1,13005	2203	4300	6503	31795040	SO:0001583	missense	80740				CCDS4714.1	6p21	2008-08-29	2002-07-29	2002-08-01	ENSG00000204421	ENSG00000204421			13936	protein-coding gene	gene with protein product		610435	"""chromosome 6 open reading frame 24"""	C6orf24		10384126, 12079290	Standard	NM_025261		Approved	G6c, NG24	uc003nwh.3	O95867	OTTHUMG00000031251	ENST00000375819.2:c.190C>T	6.37:g.31687061G>A	ENSP00000364978:p.Arg64Cys		31795040	Q5SRS8|Q8IY94	Missense_Mutation	SNP	superfamily_Snake toxin-like	p.R64C	ENST00000375819.2	37	c.190	CCDS4714.1	6	.	.	.	.	.	.	.	.	.	.	g	18.97	3.735905	0.69189	2.27E-4	0.0	ENSG00000204421	ENST00000495859;ENST00000375819	D;D	0.90385	-2.66;-2.66	5.03	3.14	0.36123	.	0.620904	0.14469	N	0.317715	D	0.82508	0.5052	N	0.19112	0.55	0.29847	N	0.828714	D	0.69078	0.997	P	0.53401	0.725	T	0.77101	-0.2712	10	0.56958	D	0.05	-10.4404	11.8308	0.52295	0.0:0.3375:0.6625:0.0	.	64	O95867	LY66C_HUMAN	C	8;64	ENSP00000433207:R8C;ENSP00000364978:R64C	ENSP00000364978:R64C	R	-	1	0	LY6G6C	31795040	0.998000	0.40836	0.998000	0.56505	0.971000	0.66376	1.900000	0.39828	1.116000	0.41820	0.466000	0.42574	CGC	-	superfamily_Snake toxin-like		0.577	LY6G6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LY6G6C	protein_coding	OTTHUMT00000076530.2	G			31795040	-1	no_errors	NM_025261	genbank	human	validated	54_36p	missense	SNP	0.885	A
SPAG4	6676	genome.wustl.edu	37	20	34205117	34205117	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr20:34205117C>G	ENST00000374273.3	+	2	476	c.364C>G	c.(364-366)Ctg>Gtg	p.L122V	SPAG4_ENST00000462896.1_3'UTR	NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	122					spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|motile cilium (GO:0031514)	structural molecule activity (GO:0005198)			NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			GACCCTGGATCTGAGGCAGGA	0.652																																																0			20											27.0	28.0	28.0					20																	34205117		2203	4300	6503	33668531	SO:0001583	missense	6676			AF043344	CCDS13259.1	20q11.2	2010-04-23			ENSG00000061656	ENSG00000061656			11214	protein-coding gene	gene with protein product	"""acrosomal protein ACR55"", ""Sad1 and UNC84 domain containing 4"", ""cancer/testis antigen 127"""	603038				9691178, 10373309	Standard	NM_003116		Approved	SUN4, CT127	uc002xdb.1	Q9NPE6	OTTHUMG00000032352	ENST00000374273.3:c.364C>G	20.37:g.34205117C>G	ENSP00000363391:p.Leu122Val		33668531	O43648	Missense_Mutation	SNP	HMMPfam_Sad1_UNC	p.L122V	ENST00000374273.3	37	c.364	CCDS13259.1	20	.	.	.	.	.	.	.	.	.	.	C	13.68	2.308534	0.40895	.	.	ENSG00000061656	ENST00000374273	T	0.20598	2.06	4.18	2.1	0.27182	.	1.469950	0.04246	N	0.337793	T	0.17323	0.0416	L	0.38838	1.175	0.27437	N	0.953832	B	0.19817	0.039	B	0.12837	0.008	T	0.27806	-1.0063	10	0.20519	T	0.43	-20.6926	6.6973	0.23205	0.1877:0.5475:0.2649:0.0	.	122	Q9NPE6	SPAG4_HUMAN	V	122	ENSP00000363391:L122V	ENSP00000363391:L122V	L	+	1	2	SPAG4	33668531	0.931000	0.31567	0.997000	0.53966	0.861000	0.49209	0.218000	0.17622	0.614000	0.30107	-0.314000	0.08810	CTG	-	NULL		0.652	SPAG4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	SPAG4	protein_coding	OTTHUMT00000078896.1	C	NM_003116		33668531	+1	no_errors	NM_003116	genbank	human	reviewed	54_36p	missense	SNP	0.908	G
FAM47A	158724	genome.wustl.edu	37	X	34148304	34148304	+	Missense_Mutation	SNP	A	A	T			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chrX:34148304A>T	ENST00000346193.3	-	1	2143	c.2092T>A	c.(2092-2094)Tgg>Agg	p.W698R		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	698										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TTGAGGTACCATGCTCCATAC	0.433																																																0			X											98.0	93.0	95.0					X																	34148304		2202	4300	6502	34058225	SO:0001583	missense	158724			BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.2092T>A	X.37:g.34148304A>T	ENSP00000345029:p.Trp698Arg		34058225	A8K8I9|Q8TAA0	Missense_Mutation	SNP	NULL	p.W698R	ENST00000346193.3	37	c.2092	CCDS43926.1	X	.	.	.	.	.	.	.	.	.	.	A	13.35	2.211985	0.39102	.	.	ENSG00000185448	ENST00000346193	T	0.19105	2.17	1.17	1.17	0.20885	.	.	.	.	.	T	0.19644	0.0472	M	0.64997	1.995	0.21878	N	0.999498	B	0.12630	0.006	B	0.10450	0.005	T	0.27971	-1.0058	9	0.59425	D	0.04	.	4.2137	0.10524	1.0:0.0:0.0:0.0	.	698	Q5JRC9	FA47A_HUMAN	R	698	ENSP00000345029:W698R	ENSP00000345029:W698R	W	-	1	0	FAM47A	34058225	1.000000	0.71417	0.920000	0.36463	0.694000	0.40290	1.354000	0.34056	0.724000	0.32296	0.441000	0.28932	TGG	-	NULL		0.433	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47A	protein_coding	OTTHUMT00000056205.1	A	NM_203408		34058225	-1	no_errors	NM_203408	genbank	human	predicted	54_36p	missense	SNP	0.925	T
CDK12	51755	genome.wustl.edu	37	17	37627173	37627173	+	Nonsense_Mutation	SNP	C	C	G			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr17:37627173C>G	ENST00000447079.4	+	2	1121	c.1088C>G	c.(1087-1089)tCa>tGa	p.S363*	CDK12_ENST00000430627.2_Nonsense_Mutation_p.S363*	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	363					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CCTGCATATTCAAGACATTCA	0.393			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																													Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0			17											59.0	59.0	59.0					17																	37627173		2203	4300	6503	34880699	SO:0001587	stop_gained	51755			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.1088C>G	17.37:g.37627173C>G	ENSP00000398880:p.Ser363*		34880699	A7E2B2|B4DYX4|B9EIQ6|O94978	Nonsense_Mutation	SNP	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST	p.S363*	ENST00000447079.4	37	c.1088	CCDS11337.1	17	.	.	.	.	.	.	.	.	.	.	C	37	6.133913	0.97315	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	.	.	.	6.16	6.16	0.99307	.	0.000000	0.40908	D	0.000985	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.009	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	X	363	.	ENSP00000407720:S363X	S	+	2	0	CDK12	34880699	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.468000	0.73551	2.937000	0.99478	0.650000	0.86243	TCA	-	NULL		0.393	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CRKRS	protein_coding	OTTHUMT00000256941.4	C	NM_016507		34880699	+1	no_errors	NM_016507	genbank	human	validated	54_36p	nonsense	SNP	1.000	G
FAM47C	442444	genome.wustl.edu	37	X	37027637	37027637	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chrX:37027637C>A	ENST00000358047.3	+	1	1206	c.1154C>A	c.(1153-1155)aCt>aAt	p.T385N		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	385										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCTCCCAAGACTCGCGTACCT	0.622																																																0			X											61.0	61.0	61.0					X																	37027637		2202	4300	6502	36937558	SO:0001583	missense	442444			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1154C>A	X.37:g.37027637C>A	ENSP00000367913:p.Thr385Asn		36937558	Q6ZU46	Missense_Mutation	SNP	NULL	p.T385N	ENST00000358047.3	37	c.1154	CCDS35227.1	X	.	.	.	.	.	.	.	.	.	.	c	9.913	1.209972	0.22289	.	.	ENSG00000198173	ENST00000358047	T	0.19105	2.17	0.53	0.53	0.17102	.	.	.	.	.	T	0.29945	0.0749	M	0.78456	2.415	0.09310	N	1	P	0.52316	0.952	P	0.50659	0.647	T	0.15983	-1.0418	9	0.26408	T	0.33	.	6.6782	0.23106	0.0:0.9998:0.0:2.0E-4	.	385	Q5HY64	FA47C_HUMAN	N	385	ENSP00000367913:T385N	ENSP00000367913:T385N	T	+	2	0	FAM47C	36937558	0.004000	0.15560	0.001000	0.08648	0.001000	0.01503	1.084000	0.30828	0.487000	0.27698	0.183000	0.17082	ACT	-	NULL		0.622	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47C	protein_coding	OTTHUMT00000060508.1	C	NM_001013736		36937558	+1	no_errors	NM_001013736	genbank	human	provisional	54_36p	missense	SNP	0.281	A
CNTNAP3	79937	genome.wustl.edu	37	9	39100025	39100025	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr9:39100025C>G	ENST00000297668.6	-	18	2951	c.2878G>C	c.(2878-2880)Gga>Cga	p.G960R	CNTNAP3_ENST00000358144.2_Missense_Mutation_p.G872R|CNTNAP3_ENST00000377656.2_Intron	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	960					cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CTGCAGTGTCCTGCACACCCT	0.572																																																0			9											4.0	4.0	4.0					9																	39100025		2113	4110	6223	39090025	SO:0001583	missense	79937			AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.2878G>C	9.37:g.39100025C>G	ENSP00000297668:p.Gly960Arg		39090025	B1AMA0|Q9C0E9	Missense_Mutation	SNP	HMMSmart_SM00231,superfamily_Galactose-binding domain-like,HMMPfam_F5_F8_type_C,PatternScan_FA58C_1,PatternScan_FA58C_2,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,HMMSmart_SM00181,HMMPfam_EGF,superfamily_Fibrinogen C-terminal domain-like,PatternScan_GLYCO_HORMONE_BETA_1	p.G960R	ENST00000297668.6	37	c.2878	CCDS6616.1	9	.	.	.	.	.	.	.	.	.	.	c	21.6	4.179775	0.78564	.	.	ENSG00000106714	ENST00000297668;ENST00000358144	D;D	0.87491	-2.26;-2.26	3.68	3.68	0.42216	Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.92815	0.7715	M	0.79475	2.455	0.80722	D	1	D;P	0.89917	1.0;0.898	D;P	0.87578	0.998;0.642	D	0.93834	0.7130	9	0.87932	D	0	.	14.5437	0.68013	0.0:1.0:0.0:0.0	.	960;960	Q9BZ76-2;Q9BZ76	.;CNTP3_HUMAN	R	960;872	ENSP00000297668:G960R;ENSP00000350863:G872R	ENSP00000297668:G960R	G	-	1	0	CNTNAP3	39090025	1.000000	0.71417	0.251000	0.24312	0.947000	0.59692	6.761000	0.74945	2.035000	0.60131	0.485000	0.47835	GGA	-	superfamily_Concanavalin A-like lectins/glucanases,PatternScan_GLYCO_HORMONE_BETA_1		0.572	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP3	protein_coding	OTTHUMT00000052511.1	C	NM_033655		39090025	-1	no_errors	NM_033655	genbank	human	reviewed	54_36p	missense	SNP	0.995	G
PGC	5225	genome.wustl.edu	37	6	41712155	41712155	+	Missense_Mutation	SNP	T	T	G			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr6:41712155T>G	ENST00000373025.3	-	3	370	c.308A>C	c.(307-309)tAc>tCc	p.Y103S	PGC_ENST00000425343.2_Missense_Mutation_p.Y103S	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	103					digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GCTCTGGCAGTAGACAGAGGG	0.607																																																0			6											61.0	63.0	62.0					6																	41712155		2203	4300	6503	41820133	SO:0001583	missense	5225				CCDS4859.1, CCDS55000.1	6p21.1	2012-10-02			ENSG00000096088	ENSG00000096088	3.4.23.3		8890	protein-coding gene	gene with protein product		169740					Standard	NM_002630		Approved		uc003ora.2	P20142	OTTHUMG00000014683	ENST00000373025.3:c.308A>C	6.37:g.41712155T>G	ENSP00000362116:p.Tyr103Ser		41820133	B4DVZ3|Q5T3D7|Q5T3D8	Missense_Mutation	SNP	superfamily_Pept_Aspartic,HMMPfam_A1_Propeptide,HMMPfam_Asp,PatternScan_ASP_PROTEASE	p.Y103S	ENST00000373025.3	37	c.308	CCDS4859.1	6	.	.	.	.	.	.	.	.	.	.	T	11.63	1.694581	0.30052	.	.	ENSG00000096088	ENST00000373025;ENST00000425343	T;T	0.56275	0.47;0.47	4.51	4.51	0.55191	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.439314	0.23074	N	0.052227	T	0.34483	0.0899	L	0.49778	1.585	0.31398	N	0.677011	P	0.37594	0.601	B	0.41174	0.349	T	0.36841	-0.9731	10	0.56958	D	0.05	.	9.9414	0.41583	0.1521:0.0:0.0:0.8479	.	103	P20142	PEPC_HUMAN	S	103	ENSP00000362116:Y103S;ENSP00000405094:Y103S	ENSP00000362116:Y103S	Y	-	2	0	PGC	41820133	1.000000	0.71417	1.000000	0.80357	0.027000	0.11550	4.349000	0.59385	1.897000	0.54924	0.477000	0.44152	TAC	-	superfamily_Pept_Aspartic,HMMPfam_Asp		0.607	PGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGC	protein_coding	OTTHUMT00000040521.2	T			41820133	-1	no_errors	NM_002630	genbank	human	provisional	54_36p	missense	SNP	0.978	G
FRMD5	84978	genome.wustl.edu	37	15	44177925	44177925	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr15:44177925C>T	ENST00000417257.1	-	11	1089	c.913G>A	c.(913-915)Gtg>Atg	p.V305M	FRMD5_ENST00000402883.1_Missense_Mutation_p.V305M|FRMD5_ENST00000484674.1_Missense_Mutation_p.V211M	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	305						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		CTGCTGGACACTGTGCGGACT	0.478																																																0			15											105.0	91.0	95.0					15																	44177925		2198	4298	6496	41965217	SO:0001583	missense	84978			BC007796	CCDS10107.2, CCDS73715.1, CCDS73716.1	15q15.3	2005-08-09			ENSG00000171877	ENSG00000171877			28214	protein-coding gene	gene with protein product							Standard	XM_005254729		Approved	MGC14161	uc001ztl.3	Q7Z6J6	OTTHUMG00000060475	ENST00000417257.1:c.913G>A	15.37:g.44177925C>T	ENSP00000403067:p.Val305Met		41965217	Q8NBG4	Missense_Mutation	SNP	HMMSmart_SM00295,superfamily_Ubiquitin-like,HMMPfam_FERM_N,PatternScan_FERM_1,superfamily_Second domain of FERM,HMMPfam_FERM_M,superfamily_PH domain-like,HMMPfam_FERM_C,HMMPfam_FA	p.V305M	ENST00000417257.1	37	c.913	CCDS10107.2	15	.	.	.	.	.	.	.	.	.	.	C	27.5	4.836299	0.91117	.	.	ENSG00000171877	ENST00000417257;ENST00000402883;ENST00000449926	D;D;D	0.83075	-1.68;-1.68;-1.68	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.89866	0.6839	L	0.58428	1.81	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	D	0.89488	0.3755	10	0.56958	D	0.05	.	18.6345	0.91372	0.0:1.0:0.0:0.0	.	290;305;305	Q7Z6J6-2;Q7Z6J6;B5MC67	.;FRMD5_HUMAN;.	M	305;305;271	ENSP00000403067:V305M;ENSP00000384142:V305M;ENSP00000399684:V271M	ENSP00000384142:V305M	V	-	1	0	FRMD5	41965217	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.594000	0.67557	2.826000	0.97356	0.655000	0.94253	GTG	-	superfamily_PH domain-like		0.478	FRMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD5	protein_coding	OTTHUMT00000133879.1	C	NM_032892		41965217	-1	no_errors	NM_032892	genbank	human	validated	54_36p	missense	SNP	1.000	T
JPH2	57158	genome.wustl.edu	37	20	42788455	42788455	+	Silent	SNP	G	G	A			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr20:42788455G>A	ENST00000372980.3	-	2	1844	c.972C>T	c.(970-972)caC>caT	p.H324H		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	324					calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)	p.H324H(2)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			AGCCATAGCCGTGGCGCAGGT	0.662																																																2	Substitution - coding silent(2)	prostate(1)|endometrium(1)	20											50.0	43.0	46.0					20																	42788455		2203	4299	6502	42221869	SO:0001819	synonymous_variant	57158			AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.972C>T	20.37:g.42788455G>A			42221869	E1P5X1|O95913|Q5JY74|Q9UJN4	Silent	SNP	superfamily_Histone H3 K4-specific methyltransferase SET7/9 N-terminal domain,HMMSmart_SM00698,HMMPfam_MORN,PatternScan_SUGAR_TRANSPORT_1,PatternScan_XYLOSE_ISOMERASE_1	p.H324	ENST00000372980.3	37	c.972	CCDS13325.1	20																																																																																			-	superfamily_Histone H3 K4-specific methyltransferase SET7/9 N-terminal domain,HMMSmart_SM00698,HMMPfam_MORN		0.662	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JPH2	protein_coding	OTTHUMT00000080307.1	G			42221869	-1	no_errors	NM_020433	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
GABRA2	2555	genome.wustl.edu	37	4	46305614	46305614	+	Missense_Mutation	SNP	A	A	T			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr4:46305614A>T	ENST00000510861.1	-	8	892	c.719T>A	c.(718-720)aTg>aAg	p.M240K	GABRA2_ENST00000356504.1_Missense_Mutation_p.M240K|GABRA2_ENST00000515082.1_Missense_Mutation_p.M240K|GABRA2_ENST00000381620.4_Missense_Mutation_p.M240K|GABRA2_ENST00000514090.1_Missense_Mutation_p.M240K|GABRA2_ENST00000540012.1_Missense_Mutation_p.M185K|GABRA2_ENST00000507069.1_Missense_Mutation_p.M240K			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	240					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	ATGAGCTGTCATTACAGTATA	0.358																																																0			4											80.0	82.0	82.0					4																	46305614		2203	4300	6503	46000371	SO:0001583	missense	2555				CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.719T>A	4.37:g.46305614A>T	ENSP00000421828:p.Met240Lys		46000371	A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	superfamily_Nicotinic receptor ligand binding domain-like,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_memb	p.M240K	ENST00000510861.1	37	c.719	CCDS3471.1	4	.	.	.	.	.	.	.	.	.	.	A	24.4	4.530977	0.85706	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069;ENST00000515082	T;T;T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15;-1.15;-1.15	5.41	5.41	0.78517	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.89856	0.6836	M	0.89904	3.07	0.80722	D	1	D;P;D	0.63880	0.987;0.837;0.993	P;P;D	0.79784	0.908;0.562;0.993	D	0.91914	0.5542	10	0.87932	D	0	.	14.923	0.70854	1.0:0.0:0.0:0.0	.	185;240;240	B7Z1H8;G5E9Z6;P47869	.;.;GBRA2_HUMAN	K	240;240;240;240;185;240;240	ENSP00000421828:M240K;ENSP00000421300:M240K;ENSP00000371033:M240K;ENSP00000348897:M240K;ENSP00000444409:M185K;ENSP00000427603:M240K;ENSP00000423840:M240K	ENSP00000348897:M240K	M	-	2	0	GABRA2	46000371	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.287000	0.95975	2.172000	0.68678	0.533000	0.62120	ATG	-	superfamily_Nicotinic receptor ligand binding domain-like,HMMPfam_Neur_chan_LBD		0.358	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	GABRA2	protein_coding	OTTHUMT00000360848.2	A			46000371	-1	no_errors	NM_000807	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
PLP2	5355	genome.wustl.edu	37	X	49029849	49029849	+	Intron	SNP	G	G	T			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chrX:49029849G>T	ENST00000376327.5	+	3	420				PLP2_ENST00000376322.3_Missense_Mutation_p.A122S	NM_002668.2	NP_002659.1	Q04941	PLP2_HUMAN	proteolipid protein 2 (colonic epithelium-enriched)						chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chemokine binding (GO:0019956)|ion transmembrane transporter activity (GO:0015075)			endometrium(3)|large_intestine(1)|lung(6)|urinary_tract(3)	13						CATGGGAGCAGCTCTGAAGCA	0.527																																																0			X											68.0	55.0	59.0					X																	49029849		2203	4300	6503	48916793	SO:0001627	intron_variant	5355			L09604	CCDS14319.1	Xp11.23	2008-08-01			ENSG00000102007	ENSG00000102007			9087	protein-coding gene	gene with protein product	"""A4 differentiation-dependent protein"""	300112				8470895, 7622043	Standard	NM_002668		Approved	A4, A4-LSB, MGC126187	uc004dmx.3	Q04941	OTTHUMG00000021513	ENST00000376327.5:c.345+19G>T	X.37:g.49029849G>T			48916793	A6NDT7|Q32MM8	Missense_Mutation	SNP	HMMPfam_MARVEL	p.A122S	ENST00000376327.5	37	c.364	CCDS14319.1	X	.	.	.	.	.	.	.	.	.	.	G	12.47	1.948501	0.34377	.	.	ENSG00000102007	ENST00000376322	T	0.34275	1.37	5.12	0.153	0.14897	.	.	.	.	.	T	0.20700	0.0498	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.22941	-1.0202	6	0.29301	T	0.29	.	1.0997	0.01681	0.2753:0.1501:0.4176:0.157	.	.	.	.	S	122	ENSP00000365500:A122S	ENSP00000365500:A122S	A	+	1	0	PLP2	48916793	0.013000	0.17824	0.001000	0.08648	0.086000	0.17979	0.545000	0.23268	-0.474000	0.06862	-0.191000	0.12829	GCT	-	HMMPfam_MARVEL		0.527	PLP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLP2	protein_coding	OTTHUMT00000056540.1	G	NM_002668		48916793	+1	no_errors	ENST00000376322	ensembl	human	known	54_36p	missense	SNP	0.045	T
SYP	6855	genome.wustl.edu	37	X	49054268	49054268	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chrX:49054268C>T	ENST00000263233.4	-	3	205	c.133G>A	c.(133-135)Ggc>Agc	p.G45S	SYP_ENST00000538567.1_Intron|SYP-AS1_ENST00000433499.1_RNA|SYP_ENST00000479808.1_Missense_Mutation_p.G45S	NM_003179.2	NP_003170.1	P08247	SYPH_HUMAN	synaptophysin	45	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cellular response to organic substance (GO:0071310)|endocytosis (GO:0006897)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of opioid receptor signaling pathway (GO:2000474)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle membrane organization (GO:0048499)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|integral component of synaptic vesicle membrane (GO:0030285)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	cholesterol binding (GO:0015485)|protein self-association (GO:0043621)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)	15		all_lung(315;0.00016)				CTGTAGCTGCCGCATGTGGCA	0.607													c|||	1	0.000264901	0.0	0.0	3775	,	,		17953	0.0		0.001	False		,,,				2504	0.0															0			X											69.0	37.0	48.0					X																	49054268		2203	4299	6502	48941212	SO:0001583	missense	6855			X06389	CCDS14321.1	Xp11.23-p11.22	2014-02-19			ENSG00000102003	ENSG00000102003			11506	protein-coding gene	gene with protein product		313475				3120152, 19377476	Standard	NM_003179		Approved	MRX96	uc004dmz.1	P08247	OTTHUMG00000034557	ENST00000263233.4:c.133G>A	X.37:g.49054268C>T	ENSP00000263233:p.Gly45Ser		48941212	B2R7L6|B7Z359|Q6P2F7	Missense_Mutation	SNP	HMMPfam_MARVEL,PatternScan_SYNAPTOP	p.G45S	ENST00000263233.4	37	c.133	CCDS14321.1	X	.	.	.	.	.	.	.	.	.	.	c	29.1	4.974251	0.92919	.	.	ENSG00000102003	ENST00000263233;ENST00000479808	T;T	0.68479	-0.33;-0.33	4.4	4.4	0.53042	Marvel (1);MARVEL-like domain (1);	0.053815	0.64402	D	0.000001	T	0.74015	0.3661	L	0.54863	1.705	0.80722	D	1	D	0.71674	0.998	P	0.57283	0.817	T	0.77923	-0.2406	10	0.72032	D	0.01	-18.8451	15.0128	0.71562	0.0:1.0:0.0:0.0	.	45	P08247	SYPH_HUMAN	S	45	ENSP00000263233:G45S;ENSP00000418169:G45S	ENSP00000263233:G45S	G	-	1	0	SYP	48941212	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.134000	0.77268	1.772000	0.52199	0.525000	0.51046	GGC	-	HMMPfam_MARVEL		0.607	SYP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYP	protein_coding	OTTHUMT00000083625.2	C	NM_003179		48941212	-1	no_errors	NM_003179	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
CYP19A1	1588	genome.wustl.edu	37	15	51504727	51504727	+	Silent	SNP	T	T	C			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr15:51504727T>C	ENST00000396402.1	-	9	1206	c.1053A>G	c.(1051-1053)caA>caG	p.Q351Q	CYP19A1_ENST00000260433.2_Silent_p.Q351Q|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000396404.4_Silent_p.Q351Q|CYP19A1_ENST00000559878.1_Silent_p.Q351Q	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	351					androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|prostate gland growth (GO:0060736)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)	aromatase activity (GO:0070330)|electron carrier activity (GO:0009055)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Betamethasone(DB00443)|Bifonazole(DB04794)|Buserelin(DB06719)|Carbimazole(DB00389)|Chlorphenesin(DB00856)|Clomifene(DB00882)|Clotrimazole(DB00257)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Dinoprostone(DB00917)|Drostanolone(DB00858)|Econazole(DB01127)|Edetic Acid(DB00974)|Etomidate(DB00292)|Exemestane(DB00990)|Ketoconazole(DB01026)|Letrozole(DB01006)|Levomethadyl Acetate(DB01227)|Levonorgestrel(DB00367)|Mefloquine(DB00358)|Melatonin(DB01065)|Methadone(DB00333)|Methyltestosterone(DB06710)|Miconazole(DB01110)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nicotine(DB00184)|Paclitaxel(DB01229)|Raloxifene(DB00481)|Sulfathiazole(DB06147)|Tamoxifen(DB00675)|Terbinafine(DB00857)|Testolactone(DB00894)|Testosterone(DB00624)|Tioconazole(DB01007)|Trastuzumab(DB00072)	CTTTTAATTTTTGTATATCAT	0.378																																					Melanoma(142;1016 1807 39614 48966 51721)											0			15											119.0	112.0	115.0					15																	51504727		2196	4293	6489	49292019	SO:0001819	synonymous_variant	1588			D14473	CCDS10139.1	15q21	2009-01-26	2003-02-14	2003-02-28	ENSG00000137869	ENSG00000137869		"""Cytochrome P450s"""	2594	protein-coding gene	gene with protein product		107910	"""cytochrome P450, subfamily XIX (aromatization of androgens)"""	CYP19		8477708	Standard	NM_031226		Approved	ARO, P-450AROM, CPV1, ARO1, CYAR, aromatase	uc001zza.4	P11511	OTTHUMG00000131747	ENST00000396402.1:c.1053A>G	15.37:g.51504727T>C			49292019	Q16731|Q3B764|Q58FA0|Q8IYJ7	Silent	SNP	superfamily_Cytochrome_P450,HMMPfam_p450,PatternScan_CYTOCHROME_P450	p.Q351	ENST00000396402.1	37	c.1053	CCDS10139.1	15																																																																																			-	superfamily_Cytochrome_P450,HMMPfam_p450		0.378	CYP19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP19A1	protein_coding	OTTHUMT00000254669.1	T			49292019	-1	no_errors	NM_000103	genbank	human	reviewed	54_36p	silent	SNP	0.400	C
NUDT11	55190	genome.wustl.edu	37	X	51239268	51239268	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chrX:51239268G>T	ENST00000375992.3	-	1	180	c.29C>A	c.(28-30)aCc>aAc	p.T10N		NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11	10					inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					GGGGTCGTAGGTCCGCGTCTG	0.677										HNSCC(48;0.14)																											GBM(38;198 791 1498 11752 13599)											0			X											21.0	18.0	19.0					X																	51239268		2199	4298	6497	51256008	SO:0001583	missense	55190			AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"""Nudix motif containing"""	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531	ENST00000375992.3:c.29C>A	X.37:g.51239268G>T	ENSP00000365160:p.Thr10Asn		51256008	Q9NVN0	Missense_Mutation	SNP	superfamily_NUDIX_hydrolase,HMMPfam_NUDIX,PatternScan_NUDIX	p.T10N	ENST00000375992.3	37	c.29	CCDS43952.1	X	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945689	0.73672	.	.	ENSG00000196368	ENST00000375992	T	0.43294	0.95	3.0	2.09	0.27110	NUDIX hydrolase domain-like (1);	0.000000	0.85682	D	0.000000	T	0.55689	0.1936	M	0.70595	2.14	0.32673	N	0.516548	D	0.89917	1.0	D	0.72075	0.976	T	0.62158	-0.6913	9	0.25751	T	0.34	-18.3207	8.4815	0.33045	0.0:0.0:0.7667:0.2333	.	10	Q96G61	NUD11_HUMAN	N	10	ENSP00000365160:T10N	ENSP00000365160:T10N	T	-	2	0	NUDT11	51256008	1.000000	0.71417	0.995000	0.50966	0.961000	0.63080	6.555000	0.73928	0.442000	0.26555	0.544000	0.68410	ACC	-	NULL		0.677	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT11	protein_coding	OTTHUMT00000056579.1	G			51256008	-1	no_errors	NM_018159	genbank	human	validated	54_36p	missense	SNP	1.000	T
WNK3	65267	genome.wustl.edu	37	X	54278102	54278102	+	Silent	SNP	G	G	A			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chrX:54278102G>A	ENST00000375159.2	-	13	2385	c.2386C>T	c.(2386-2388)Ctg>Ttg	p.L796L	WNK3_ENST00000375169.3_Silent_p.L796L|WNK3_ENST00000354646.2_Silent_p.L796L			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	796					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TCACTTTCCAGCACAAAGTTA	0.358																																																0			X											62.0	60.0	61.0					X																	54278102		2203	4300	6503	54294827	SO:0001819	synonymous_variant	65267			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.2386C>T	X.37:g.54278102G>A			54294827	B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Silent	SNP	superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST	p.L796	ENST00000375159.2	37	c.2386	CCDS14357.1	X																																																																																			-	superfamily_Kinase_like		0.358	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WNK3	protein_coding	OTTHUMT00000056799.2	G	NM_020922		54294827	-1	no_errors	NM_020922	genbank	human	validated	54_36p	silent	SNP	1.000	A
OR8H1	219469	genome.wustl.edu	37	11	56057993	56057993	+	Silent	SNP	T	T	G			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr11:56057993T>G	ENST00000313022.2	-	1	573	c.546A>C	c.(544-546)ccA>ccC	p.P182P		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GAGCTAAAATTGGAGACGTGT	0.418																																																0			11											121.0	109.0	113.0					11																	56057993		2201	4296	6497	55814569	SO:0001819	synonymous_variant	219469			AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.546A>C	11.37:g.56057993T>G			55814569	B2RNI7|Q6IFC5	Silent	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.P182	ENST00000313022.2	37	c.546	CCDS31526.1	11																																																																																			-	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1		0.418	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H1	protein_coding	OTTHUMT00000370019.1	T	NM_001005199		55814569	-1	no_errors	NM_001005199	genbank	human	provisional	54_36p	silent	SNP	0.000	G
RAB23	51715	genome.wustl.edu	37	6	57055298	57055298	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr6:57055298C>G	ENST00000317483.3	-	7	1294	c.675G>C	c.(673-675)aaG>aaC	p.K225N	RAB23_ENST00000468148.1_Missense_Mutation_p.K225N	NM_016277.3	NP_057361.3	Q9ULC3	RAB23_HUMAN	RAB23, member RAS oncogene family	225				K -> N (in Ref. 3; AAF29101). {ECO:0000305}.	autophagic vacuole assembly (GO:0000045)|cellular defense response (GO:0006968)|cilium assembly (GO:0042384)|craniofacial suture morphogenesis (GO:0097094)|embryonic digit morphogenesis (GO:0042733)|GTP catabolic process (GO:0006184)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription factor import into nucleus (GO:0042992)|protein transport (GO:0015031)|regulation of smoothened signaling pathway (GO:0008589)|small GTPase mediated signal transduction (GO:0007264)|spinal cord dorsal/ventral patterning (GO:0021513)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	8	Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TTCTGTTTTTCTTGGTCCTTT	0.408																																																0			6											211.0	197.0	201.0					6																	57055298		2203	4300	6503	57163257	SO:0001583	missense	51715			AB034244	CCDS4962.1	6p12.1	2008-05-15			ENSG00000112210	ENSG00000112210		"""RAB, member RAS oncogene"""	14263	protein-coding gene	gene with protein product		606144					Standard	NM_016277		Approved		uc003pdt.3	Q9ULC3	OTTHUMG00000014918	ENST00000317483.3:c.675G>C	6.37:g.57055298C>G	ENSP00000320413:p.Lys225Asn		57163257	B2R9I5|Q68DJ6|Q8NI06|Q9P023	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00176	p.K225N	ENST00000317483.3	37	c.675	CCDS4962.1	6	.	.	.	.	.	.	.	.	.	.	C	17.18	3.324011	0.60634	.	.	ENSG00000112210	ENST00000317483;ENST00000468148	T;T	0.66099	-0.19;-0.19	5.79	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.35711	0.0941	L	0.27053	0.805	0.80722	D	1	B	0.27380	0.177	B	0.20384	0.029	T	0.36529	-0.9744	10	0.56958	D	0.05	-0.8413	16.2758	0.82642	0.1337:0.8663:0.0:0.0	.	225	Q9ULC3	RAB23_HUMAN	N	225	ENSP00000320413:K225N;ENSP00000417610:K225N	ENSP00000320413:K225N	K	-	3	2	RAB23	57163257	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	1.445000	0.47624	0.462000	0.41574	AAG	-	NULL		0.408	RAB23-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB23	protein_coding	OTTHUMT00000041042.1	C			57163257	-1	no_errors	NM_016277	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
OR9I1	219954	genome.wustl.edu	37	11	57886624	57886624	+	Missense_Mutation	SNP	G	G	A	rs147846129		TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr11:57886624G>A	ENST00000302610.1	-	1	292	c.293C>T	c.(292-294)gCt>gTt	p.A98V	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				GAACTGGGCAGCACAGTGGCC	0.547																																																0			11						G	VAL/ALA	2,4400	4.2+/-10.8	0,2,2199	92.0	77.0	82.0		293	4.2	1.0	11	dbSNP_134	82	0,8592		0,0,4296	no	missense	OR9I1	NM_001005211.1	64	0,2,6495	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	98/315	57886624	2,12992	2201	4296	6497	57643200	SO:0001583	missense	219954			AB065733	CCDS31542.1	11q12.1	2012-08-09			ENSG00000172377	ENSG00000172377		"""GPCR / Class A : Olfactory receptors"""	14718	protein-coding gene	gene with protein product							Standard	NM_001005211		Approved		uc021qjl.1	Q8NGQ6	OTTHUMG00000167404	ENST00000302610.1:c.293C>T	11.37:g.57886624G>A	ENSP00000302606:p.Ala98Val		57643200	Q6IFH0|Q96RA8	Missense_Mutation	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.A98V	ENST00000302610.1	37	c.293	CCDS31542.1	11	.	.	.	.	.	.	.	.	.	.	G	9.587	1.125029	0.20959	4.54E-4	0.0	ENSG00000172377	ENST00000302610	T	0.00376	7.7	5.06	4.15	0.48705	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000187	T	0.00552	0.0018	L	0.39633	1.23	0.29901	N	0.824439	D	0.89917	1.0	D	0.87578	0.998	T	0.56673	-0.7940	10	0.44086	T	0.13	-17.9764	8.451	0.32871	0.0819:0.157:0.7611:0.0	.	98	Q8NGQ6	OR9I1_HUMAN	V	98	ENSP00000302606:A98V	ENSP00000302606:A98V	A	-	2	0	OR9I1	57643200	0.000000	0.05858	1.000000	0.80357	0.082000	0.17680	0.930000	0.28858	1.498000	0.48600	0.467000	0.42956	GCT	-	superfamily_SSF81321,HMMPfam_7tm_1		0.547	OR9I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR9I1	protein_coding	OTTHUMT00000394539.1	G	NM_001005211		57643200	-1	no_errors	NM_001005211	genbank	human	provisional	54_36p	missense	SNP	0.093	A
SS18L1	26039	genome.wustl.edu	37	20	60738631	60738631	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr20:60738631G>A	ENST00000331758.3	+	6	700	c.674G>A	c.(673-675)aGc>aAc	p.S225N	SS18L1_ENST00000370848.4_Missense_Mutation_p.S228N|SS18L1_ENST00000421564.1_Missense_Mutation_p.S225N	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1	225	Gln-rich.|Methionine-rich intra-molecular domain. {ECO:0000250}.				chromatin modification (GO:0016568)|dendrite development (GO:0016358)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of dendrite development (GO:0050773)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)|kinetochore (GO:0000776)|nuclear body (GO:0016604)|nucleus (GO:0005634)			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			CAGGGGAGCAGCATGATGGGG	0.731			T	SSX1	synovial sarcoma																																		Dom	yes		20	20q13.3	26039	synovial sarcoma translocation gene on chromosome 18-like 1		M	0			20											23.0	25.0	24.0					20																	60738631		2194	4293	6487	60172026	SO:0001583	missense	26039			AB014593	CCDS13491.1	20q13.3	2008-07-28			ENSG00000184402	ENSG00000184402			15592	protein-coding gene	gene with protein product		606472					Standard	XM_005260389		Approved	KIAA0693	uc002ycb.3	O75177	OTTHUMG00000032902	ENST00000331758.3:c.674G>A	20.37:g.60738631G>A	ENSP00000333012:p.Ser225Asn		60172026	A6NNE3|A8K620|B3KWR8|E1P5H7|Q5JXJ3|Q6MZV9|Q6NTH3|Q6XYD9|Q8NE69|Q9BR55|Q9H4K6	Missense_Mutation	SNP	HMMPfam_SSXT	p.S225N	ENST00000331758.3	37	c.674	CCDS13491.1	20	.	.	.	.	.	.	.	.	.	.	G	17.31	3.356274	0.61293	.	.	ENSG00000184402	ENST00000421564;ENST00000331758;ENST00000370848	T;T;T	0.32753	1.44;1.44;1.45	4.99	4.99	0.66335	.	0.300220	0.40064	N	0.001196	T	0.35128	0.0921	L	0.54323	1.7	0.30147	N	0.803416	D;P	0.53151	0.958;0.89	B;B	0.42692	0.395;0.272	T	0.44636	-0.9315	10	0.87932	D	0	-15.6503	18.2771	0.90087	0.0:0.0:1.0:0.0	.	225;225	B4DSR7;O75177	.;CREST_HUMAN	N	225;225;228	ENSP00000393999:S225N;ENSP00000333012:S225N;ENSP00000359885:S228N	ENSP00000333012:S225N	S	+	2	0	SS18L1	60172026	1.000000	0.71417	0.969000	0.41365	0.990000	0.78478	2.782000	0.47758	2.312000	0.78011	0.467000	0.42956	AGC	-	NULL		0.731	SS18L1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SS18L1	protein_coding	OTTHUMT00000080004.2	G			60172026	+1	no_errors	NM_198935	genbank	human	validated	54_36p	missense	SNP	1.000	A
TNFRSF6B	8771	genome.wustl.edu	37	20	62325794	62325794	+	5'Flank	SNP	A	A	T			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr20:62325794A>T	ENST00000369996.1	+	0	0				RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.H1021L|RTEL1_ENST00000360203.5_Missense_Mutation_p.H1021L|RTEL1_ENST00000370003.1_Missense_Mutation_p.H266L|RTEL1_ENST00000508582.2_Missense_Mutation_p.H1045L|RTEL1_ENST00000370018.3_Missense_Mutation_p.H1021L|RTEL1_ENST00000318100.4_Missense_Mutation_p.H1021L	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily, member 6b, decoy						apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	extracellular space (GO:0005615)	receptor activity (GO:0004872)			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			CCCCAAGAGCACCTGAACCAG	0.637																																																0			20											56.0	62.0	60.0					20																	62325794		2184	4283	6467	61796238	SO:0001631	upstream_gene_variant	51750			AF104419	CCDS13532.1	20q13.33	2012-06-27						"""Tumor necrosis factor receptor superfamily"""	11921	protein-coding gene	gene with protein product		603361				9872321, 10318773	Standard	NM_003823		Approved	DcR3, DCR3, TR6, M68	uc002yfz.3	O95407	OTTHUMG00000143724		20.37:g.62325794A>T	Exception_encountered		61796238		Missense_Mutation	SNP	superfamily_SSF52540,HMMSmart_DEXDc2,HMMPfam_ResIII,HMMPfam_DEAD_2,HMMSmart_HELICc2,superfamily_SSF57850	p.H1021L	ENST00000369996.1	37	c.3062	CCDS13532.1	20	.	.	.	.	.	.	.	.	.	.	A	14.18	2.459396	0.43736	.	.	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203;ENST00000370003	D;D;D;D;T	0.83506	-1.65;-1.73;-1.61;-1.67;0.56	3.77	3.77	0.43336	.	0.539933	0.21324	N	0.076406	D	0.83644	0.5299	L	0.47716	1.5	0.32737	N	0.508249	B;D;B;B	0.63046	0.372;0.992;0.016;0.372	B;P;B;B	0.59948	0.093;0.866;0.015;0.076	T	0.82170	-0.0590	10	0.16896	T	0.51	-21.7713	10.3751	0.44077	1.0:0.0:0.0:0.0	.	1045;266;1021;1021	Q9NZ71-7;Q9NZ71-5;Q9NZ71;Q9NZ71-6	.;.;RTEL1_HUMAN;.	L	1021;1021;1045;1021;266	ENSP00000359035:H1021L;ENSP00000322287:H1021L;ENSP00000424307:H1045L;ENSP00000353332:H1021L;ENSP00000359020:H266L	ENSP00000353332:H1021L	H	+	2	0	AL353715.1	61796238	0.872000	0.30054	0.857000	0.33713	0.714000	0.41099	2.327000	0.43858	1.694000	0.51137	0.374000	0.22700	CAC	-	NULL		0.637	TNFRSF6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTEL1	protein_coding	OTTHUMT00000080182.1	A			61796238	+1	no_errors	NM_032957	genbank	human	reviewed	54_36p	missense	SNP	0.996	T
MTA2	9219	genome.wustl.edu	37	11	62364298	62364298	+	Splice_Site	SNP	C	C	G			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr11:62364298C>G	ENST00000278823.2	-	9	1083		c.e9-1		MTA2_ENST00000524902.1_Splice_Site|MTA2_ENST00000527204.1_Splice_Site	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2						ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						TGGCGTGAAACTATGGGGAAG	0.592																																																0			11											62.0	57.0	59.0					11																	62364298		2202	4299	6501	62120874	SO:0001630	splice_region_variant	9219			AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"""GATA zinc finger domain containing"""	7411	protein-coding gene	gene with protein product		603947	"""metastasis associated gene family, member 2"""	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.694-1G>C	11.37:g.62364298C>G			62120874	Q68DB1|Q9UQB5	Splice_Site	SNP	-	e9-1	ENST00000278823.2	37	c.694-1	CCDS8022.1	11	.	.	.	.	.	.	.	.	.	.	C	13.08	2.131298	0.37630	.	.	ENSG00000149480	ENST00000278823;ENST00000524902;ENST00000527204	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1526	0.81632	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MTA2	62120874	1.000000	0.71417	1.000000	0.80357	0.450000	0.32258	7.686000	0.84128	2.482000	0.83794	0.462000	0.41574	.	-	-		0.592	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTA2	protein_coding	OTTHUMT00000395578.1	C	NM_004739	Intron	62120874	-1	no_errors	NM_004739	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	G
RPL9P18	389404	genome.wustl.edu	37	6	64325920	64325920	+	IGR	SNP	C	C	G			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr6:64325920C>G								PTP4A1 (32428 upstream) : PHF3 (19820 downstream)																							CAAACAACACCTGCTCTCATC	0.413																																																0			6																																								64383879	SO:0001628	intergenic_variant	389404																															6.37:g.64325920C>G			64383879		RNA	SNP	-	NULL		37	NULL		6																																																																																			-	-	0	0.413					LOC389404			C			64383879	-1	pseudogene	XR_016190	genbank	human	model	54_36p	rna	SNP	0.997	G
HYDIN	54768	genome.wustl.edu	37	16	71163564	71163564	+	Silent	SNP	G	G	A			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr16:71163564G>A	ENST00000393567.2	-	9	1356	c.1206C>T	c.(1204-1206)aaC>aaT	p.N402N	HYDIN_ENST00000393550.2_Silent_p.N402N|HYDIN_ENST00000541601.1_Silent_p.N419N|HYDIN_ENST00000448691.1_Silent_p.N402N|HYDIN_ENST00000288168.10_Silent_p.N419N|HYDIN_ENST00000321489.5_Silent_p.N402N|HYDIN_ENST00000448089.2_Silent_p.N402N|HYDIN_ENST00000538248.1_Silent_p.N429N	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	402					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)				CAGTGAAAACGTTATTGAAGA	0.468																																																0			16											51.0	50.0	50.0					16																	71163564		2198	4300	6498	69721065	SO:0001819	synonymous_variant	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.1206C>T	16.37:g.71163564G>A			69721065	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	superfamily_PapD-like,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.N402	ENST00000393567.2	37	c.1206	CCDS59269.1	16																																																																																			-	NULL		0.468	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	protein_coding	OTTHUMT00000398624.3	G			69721065	-1	no_errors	NM_032821	genbank	human	validated	54_36p	silent	SNP	0.020	A
SULT1B1	27284	genome.wustl.edu	37	4	70599966	70599966	+	Missense_Mutation	SNP	C	C	G	rs371978235		TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr4:70599966C>G	ENST00000310613.3	-	5	689	c.392G>C	c.(391-393)cGt>cCt	p.R131P		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	131					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|cellular biogenic amine metabolic process (GO:0006576)|epithelial cell differentiation (GO:0030855)|flavonoid metabolic process (GO:0009812)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|thyroid hormone metabolic process (GO:0042403)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|sulfotransferase activity (GO:0008146)	p.R131H(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						CTTGGCATTACGAGCCAGATA	0.353																																																1	Substitution - Missense(1)	endometrium(1)	4											28.0	29.0	28.0					4																	70599966		2201	4298	6499	70634555	SO:0001583	missense	27284			D89479	CCDS3530.1	4q13.3	2008-02-05			ENSG00000173597	ENSG00000173597		"""Sulfotransferases, cytosolic"""	17845	protein-coding gene	gene with protein product		608436				11688987, 9443824	Standard	NM_014465		Approved	ST1B2	uc003hen.3	O43704	OTTHUMG00000129407	ENST00000310613.3:c.392G>C	4.37:g.70599966C>G	ENSP00000308770:p.Arg131Pro		70634555	O15497|Q96FI1|Q9UK34	Missense_Mutation	SNP	superfamily_SSF52540,HMMPfam_Sulfotransfer_1	p.R131P	ENST00000310613.3	37	c.392	CCDS3530.1	4	.	.	.	.	.	.	.	.	.	.	C	13.47	2.247371	0.39697	.	.	ENSG00000173597	ENST00000310613;ENST00000510821	T;T	0.33438	1.41;1.41	4.67	2.93	0.34026	Sulfotransferase domain (1);	0.000000	0.43919	D	0.000503	T	0.71517	0.3349	H	0.99777	4.77	0.50813	D	0.999897	D	0.89917	1.0	D	0.97110	1.0	T	0.76656	-0.2879	10	0.87932	D	0	.	8.8101	0.34963	0.0:0.8118:0.0:0.1882	.	131	O43704	ST1B1_HUMAN	P	131	ENSP00000308770:R131P;ENSP00000425464:R131P	ENSP00000308770:R131P	R	-	2	0	SULT1B1	70634555	0.999000	0.42202	0.986000	0.45419	0.111000	0.19643	5.201000	0.65163	0.517000	0.28361	-0.384000	0.06662	CGT	-	superfamily_SSF52540,HMMPfam_Sulfotransfer_1		0.353	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SULT1B1	protein_coding	OTTHUMT00000251563.2	C	NM_014465		70634555	-1	no_errors	NM_014465	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
PDE2A	5138	genome.wustl.edu	37	11	72289292	72289292	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr11:72289292G>A	ENST00000334456.5	-	30	2845	c.2600C>T	c.(2599-2601)gCa>gTa	p.A867V	PDE2A_ENST00000418754.2_Missense_Mutation_p.A752V|PDE2A_ENST00000376450.3_Missense_Mutation_p.A611V|PDE2A_ENST00000444035.2_Missense_Mutation_p.A858V|PDE2A_ENST00000540345.1_Missense_Mutation_p.A858V|PDE2A_ENST00000544570.1_Missense_Mutation_p.A860V	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	867	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	GATGGGCATTGCAATGTGCTC	0.562																																																0			11											199.0	162.0	174.0					11																	72289292		2200	4293	6493	71966940	SO:0001583	missense	5138			U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"""Phosphodiesterases"""	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.2600C>T	11.37:g.72289292G>A	ENSP00000334910:p.Ala867Val		71966940	B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Missense_Mutation	SNP	superfamily_GAF domain-like,HMMPfam_GAF,HMMSmart_SM00065,superfamily_HD-domain/PDEase-like,HMMSmart_SM00471,HMMPfam_PDEase_I,PatternScan_PDEASE_I	p.A867V	ENST00000334456.5	37	c.2600	CCDS8216.1	11	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751147	0.69533	.	.	ENSG00000186642	ENST00000334456;ENST00000376450;ENST00000444035;ENST00000429363;ENST00000544570;ENST00000418754;ENST00000540345	T;T;T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57;-0.57;-0.57	5.59	5.59	0.84812	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	T	0.50051	0.1593	N	0.11341	0.13	0.80722	D	1	P;B;P;P;B;B	0.48589	0.79;0.002;0.803;0.912;0.002;0.099	B;B;B;B;B;B	0.33196	0.127;0.008;0.149;0.159;0.008;0.021	T	0.60362	-0.7278	10	0.49607	T	0.09	.	18.169	0.89739	0.0:0.0:1.0:0.0	.	752;867;858;860;867;611	E9PEF1;O00408;E9PGI1;F6W5Z0;B2R646;Q6ZMR1	.;PDE2A_HUMAN;.;.;.;.	V	867;611;858;936;860;752;858	ENSP00000334910:A867V;ENSP00000365633:A611V;ENSP00000411657:A858V;ENSP00000442256:A860V;ENSP00000410310:A752V;ENSP00000446399:A858V	ENSP00000334910:A867V	A	-	2	0	PDE2A	71966940	1.000000	0.71417	0.649000	0.29536	0.951000	0.60555	9.579000	0.98204	2.630000	0.89119	0.511000	0.50034	GCA	-	superfamily_HD-domain/PDEase-like,HMMPfam_PDEase_I		0.562	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE2A	protein_coding	OTTHUMT00000219839.2	G	NM_002599		71966940	-1	no_errors	NM_002599	genbank	human	validated	54_36p	missense	SNP	1.000	A
RPL18P13	441775	genome.wustl.edu	37	16	76269285	76269285	+	lincRNA	SNP	G	G	A			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr16:76269285G>A	ENST00000568714.1	-	0	135																											AATCACGGCCGTTTTGTTTTC	0.552																																																0			16																																								74826786			441775																															16.37:g.76269285G>A			74826786		RNA	SNP	-	NULL	ENST00000568714.1	37	NULL		16																																																																																			-	-		0.552	RP11-150D5.2-001	KNOWN	basic	lincRNA	LOC441775	lincRNA	OTTHUMT00000434958.1	G			74826786	-1	pseudogene	XR_042366	genbank	human	model	54_36p	rna	SNP	0.816	A
CNGB3	54714	genome.wustl.edu	37	8	87644981	87644981	+	Splice_Site	SNP	T	T	C			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr8:87644981T>C	ENST00000320005.5	-	11	1366	c.1319A>G	c.(1318-1320)cAg>cGg	p.Q440R		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	440					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TCAGCTTACCTGACCAATTAA	0.348																																																0			8											44.0	47.0	46.0					8																	87644981		2202	4299	6501	87714097	SO:0001630	splice_region_variant	54714			AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.1320+1A>G	8.37:g.87644981T>C			87714097	C9JA51|Q9NRE9	Missense_Mutation	SNP	superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,superfamily_cAMP-binding domain-like,HMMSmart_SM00100,HMMPfam_cNMP_binding,PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2	p.Q440R	ENST00000320005.5	37	c.1319	CCDS6244.1	8	.	.	.	.	.	.	.	.	.	.	T	24.4	4.524604	0.85600	.	.	ENSG00000170289	ENST00000320005	D	0.97328	-4.34	5.12	5.12	0.69794	.	0.064553	0.64402	D	0.000008	D	0.98425	0.9476	M	0.85373	2.75	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.994;0.995	D	0.99560	1.0968	10	0.72032	D	0.01	.	15.2136	0.73247	0.0:0.0:0.0:1.0	.	440;440	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	R	440	ENSP00000316605:Q440R	ENSP00000316605:Q440R	Q	-	2	0	CNGB3	87714097	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.997000	0.88414	2.056000	0.61249	0.482000	0.46254	CAG	-	superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans		0.348	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNGB3	protein_coding	OTTHUMT00000375107.1	T	NM_019098	Missense_Mutation	87714097	-1	no_errors	NM_019098	genbank	human	validated	54_36p	missense	SNP	1.000	C
HTR1E	3354	genome.wustl.edu	37	6	87725197	87725197	+	Missense_Mutation	SNP	A	A	C			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr6:87725197A>C	ENST00000305344.5	+	2	848	c.145A>C	c.(145-147)Acc>Ccc	p.T49P		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	49					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	GGCTATTGGCACCACCAAGAA	0.542																																																0			6											179.0	137.0	151.0					6																	87725197		2203	4300	6503	87781916	SO:0001583	missense	3354				CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.145A>C	6.37:g.87725197A>C	ENSP00000307766:p.Thr49Pro		87781916	E1P503|Q9P1Y1	Missense_Mutation	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.T49P	ENST00000305344.5	37	c.145	CCDS5006.1	6	.	.	.	.	.	.	.	.	.	.	A	14.38	2.518677	0.44763	.	.	ENSG00000168830	ENST00000305344;ENST00000369584	T;T	0.38560	1.13;1.13	4.4	4.4	0.53042	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000010	T	0.56514	0.1990	M	0.87971	2.92	0.36860	D	0.888348	D	0.55172	0.97	P	0.61132	0.884	T	0.66333	-0.5950	10	0.52906	T	0.07	.	13.8983	0.63787	1.0:0.0:0.0:0.0	.	49	P28566	5HT1E_HUMAN	P	49	ENSP00000307766:T49P;ENSP00000358597:T49P	ENSP00000307766:T49P	T	+	1	0	HTR1E	87781916	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	5.495000	0.66912	1.746000	0.51805	0.416000	0.27883	ACC	-	superfamily_SSF81321,HMMPfam_7tm_1		0.542	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1E	protein_coding	OTTHUMT00000472488.2	A	NM_000865		87781916	+1	no_errors	NM_000865	genbank	human	validated	54_36p	missense	SNP	0.998	C
NAALAD2	10003	genome.wustl.edu	37	11	89909192	89909192	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr11:89909192G>C	ENST00000534061.1	+	15	1785	c.1555G>C	c.(1555-1557)Gga>Cga	p.G519R	NAALAD2_ENST00000321955.4_Missense_Mutation_p.G486R|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	519	NAALADase.				neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TCAGAGACTTGGAATTGCTTC	0.378																																																0			11											109.0	100.0	103.0					11																	89909192		2201	4299	6500	89548840	SO:0001583	missense	10003			AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.1555G>C	11.37:g.89909192G>C	ENSP00000432481:p.Gly519Arg		89548840	B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	superfamily_Transferrin receptor ectodomain apical domain,HMMPfam_PA,superfamily_Zn-dependent exopeptidases,HMMPfam_Peptidase_M28,superfamily_Transferrin receptor ectodomain C-terminal domain,HMMPfam_TFR_dimer	p.G519R	ENST00000534061.1	37	c.1555	CCDS8288.1	11	.	.	.	.	.	.	.	.	.	.	G	27.3	4.816510	0.90790	.	.	ENSG00000077616	ENST00000534061;ENST00000321955	T;T	0.61392	0.11;0.11	5.56	5.56	0.83823	Peptidase M28 (1);	0.000000	0.85682	D	0.000000	D	0.84665	0.5522	H	0.95917	3.74	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89247	0.3588	9	.	.	.	-20.127	19.5794	0.95459	0.0:0.0:1.0:0.0	.	519	Q9Y3Q0	NALD2_HUMAN	R	519;486	ENSP00000432481:G519R;ENSP00000320083:G486R	.	G	+	1	0	NAALAD2	89548840	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.903000	0.92573	2.630000	0.89119	0.650000	0.86243	GGA	-	superfamily_Zn-dependent exopeptidases		0.378	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAALAD2	protein_coding	OTTHUMT00000389424.2	G	NM_005467		89548840	+1	no_errors	NM_005467	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
WNK2	65268	genome.wustl.edu	37	9	96031125	96031125	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr9:96031125C>A	ENST00000297954.4	+	19	4037	c.4037C>A	c.(4036-4038)cCa>cAa	p.P1346Q	WNK2_ENST00000356055.3_Intron|WNK2_ENST00000395475.2_Intron|WNK2_ENST00000427277.2_Intron|WNK2_ENST00000349097.3_Missense_Mutation_p.P958Q|WNK2_ENST00000395477.2_Intron	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1346					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TGCCCAGGTCCATGCAGGGGG	0.602																																																0			9											7.0	7.0	7.0					9																	96031125		871	1977	2848	95070946	SO:0001583	missense	65268			AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.4037C>A	9.37:g.96031125C>A	ENSP00000297954:p.Pro1346Gln		95070946	Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST	p.P1346Q	ENST00000297954.4	37	c.4037		9	.	.	.	.	.	.	.	.	.	.	C	9.655	1.142471	0.21205	.	.	ENSG00000165238	ENST00000297954;ENST00000349097	T;T	0.26957	1.7;1.7	4.22	-8.43	0.00953	.	19.832600	0.00166	N	0.000000	T	0.15089	0.0364	.	.	.	0.09310	N	0.999998	B	0.17465	0.022	B	0.14023	0.01	T	0.13980	-1.0489	9	0.72032	D	0.01	.	1.9596	0.03383	0.1102:0.2372:0.247:0.4056	.	1346	Q9Y3S1	WNK2_HUMAN	Q	1346;958	ENSP00000297954:P1346Q;ENSP00000297876:P958Q	ENSP00000297954:P1346Q	P	+	2	0	WNK2	95070946	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.192000	0.01245	-2.599000	0.00452	-1.851000	0.00568	CCA	-	NULL		0.602	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	WNK2	protein_coding	OTTHUMT00000317359.1	C	NM_006648		95070946	+1	no_errors	ENST00000297954	ensembl	human	known	54_36p	missense	SNP	0.000	A
NEDD1	121441	genome.wustl.edu	37	12	97313850	97313850	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr12:97313850C>A	ENST00000266742.4	+	6	775	c.436C>A	c.(436-438)Cac>Aac	p.H146N	NEDD1_ENST00000557644.1_Missense_Mutation_p.H153N|NEDD1_ENST00000411739.2_Missense_Mutation_p.H57N|NEDD1_ENST00000429527.2_Missense_Mutation_p.H146N|NEDD1_ENST00000457368.2_Missense_Mutation_p.H57N|NEDD1_ENST00000555114.1_3'UTR	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	146					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	apical part of cell (GO:0045177)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|pericentriolar material (GO:0000242)|spindle pole (GO:0000922)				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						AATTATTTTACACAGTGTAAC	0.333																																																0			12											152.0	145.0	147.0					12																	97313850		2202	4300	6502	95837981	SO:0001583	missense	121441				CCDS9063.1, CCDS44955.1, CCDS44956.1	12q23.1	2013-01-10			ENSG00000139350	ENSG00000139350		"""WD repeat domain containing"""	7723	protein-coding gene	gene with protein product		600372					Standard	NM_001135175		Approved	GCP-WD, TUBGCP7	uc001tev.4	Q8NHV4	OTTHUMG00000170604	ENST00000266742.4:c.436C>A	12.37:g.97313850C>A	ENSP00000266742:p.His146Asn		95837981	B0AZN0|B4E145|G3V3F1|Q8NA30	Missense_Mutation	SNP	superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1	p.H146N	ENST00000266742.4	37	c.436	CCDS9063.1	12	.	.	.	.	.	.	.	.	.	.	C	28.5	4.926750	0.92319	.	.	ENSG00000139350	ENST00000266742;ENST00000429527;ENST00000554226;ENST00000557478;ENST00000411739;ENST00000553609;ENST00000557644;ENST00000457368	T;T;T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.59;1.57;1.57;1.59	5.88	5.88	0.94601	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.087872	0.85682	D	0.000000	T	0.52354	0.1729	L	0.59436	1.845	0.80722	D	1	D;P	0.71674	0.998;0.659	D;P	0.81914	0.995;0.499	T	0.24941	-1.0146	10	0.16896	T	0.51	.	20.2366	0.98359	0.0:1.0:0.0:0.0	.	153;146	G3V3F1;Q8NHV4	.;NEDD1_HUMAN	N	146;146;153;146;57;57;153;57	ENSP00000266742:H146N;ENSP00000404978:H146N;ENSP00000450881:H153N;ENSP00000451869:H146N;ENSP00000411307:H57N;ENSP00000451830:H57N;ENSP00000451211:H153N;ENSP00000407964:H57N	ENSP00000266742:H146N	H	+	1	0	NEDD1	95837981	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.175000	0.77632	2.792000	0.96026	0.557000	0.71058	CAC	-	superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40		0.333	NEDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEDD1	protein_coding	OTTHUMT00000409792.1	C			95837981	+1	no_errors	NM_152905	genbank	human	validated	54_36p	missense	SNP	1.000	A
FARP1	10160	genome.wustl.edu	37	13	99092292	99092292	+	Silent	SNP	C	C	T	rs139091102	byFrequency	TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr13:99092292C>T	ENST00000319562.6	+	22	2776	c.2511C>T	c.(2509-2511)gcC>gcT	p.A837A	FARP1_ENST00000595437.1_Silent_p.A868A|FARP1_ENST00000376586.2_Silent_p.A868A	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	837	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TCATCGTGGCCGCCAGGTAAC	0.622																																																0			13						C		2,4404	4.2+/-10.8	0,2,2201	105.0	118.0	114.0		2511	-2.3	1.0	13	dbSNP_134	114	0,8600		0,0,4300	no	coding-synonymous	FARP1	NM_005766.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		837/1046	99092292	2,13004	2203	4300	6503	97890293	SO:0001819	synonymous_variant	10160			AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.2511C>T	13.37:g.99092292C>T			97890293	Q5JVI9|Q6IQ29	Silent	SNP	HMMSmart_SM00295,superfamily_Ubiquitin-like,HMMPfam_FERM_N,PatternScan_FERM_1,superfamily_Second domain of FERM,HMMPfam_FERM_M,superfamily_PH domain-like,HMMPfam_FERM_C,HMMPfam_FA,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,HMMPfam_PH,HMMSmart_SM00233	p.A837	ENST00000319562.6	37	c.2511	CCDS9487.1	13																																																																																			-	superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233		0.622	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARP1	protein_coding	OTTHUMT00000045541.3	C	NM_005766		97890293	+1	no_errors	NM_005766	genbank	human	reviewed	54_36p	silent	SNP	0.976	T
INVS	27130	genome.wustl.edu	37	9	102866879	102866879	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr9:102866879G>A	ENST00000262457.2	+	2	261	c.76G>A	c.(76-78)Gat>Aat	p.D26N	INVS_ENST00000460636.2_3'UTR|INVS_ENST00000374921.3_Missense_Mutation_p.D26N|INVS_ENST00000541287.1_5'UTR|INVS_ENST00000262456.2_Missense_Mutation_p.D26N|RN7SL75P_ENST00000461926.2_RNA	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	26					embryonic heart tube left/right pattern formation (GO:0060971)|kidney development (GO:0001822)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|pancreas development (GO:0031016)|post-embryonic development (GO:0009791)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				CGTTAATGGAGATAAGGGTGC	0.443																																																0			9											117.0	98.0	104.0					9																	102866879		2203	4300	6503	101906700	SO:0001583	missense	27130			AF039217	CCDS6746.1, CCDS6747.1	9q31	2013-01-10	2003-08-11		ENSG00000119509	ENSG00000119509		"""Ankyrin repeat domain containing"""	17870	protein-coding gene	gene with protein product	"""nephrocystin 2"""	243305	"""nephronophthisis 2 (infantile)"""	NPHP2		12872123	Standard	NM_014425		Approved		uc004bap.2	Q9Y283	OTTHUMG00000020364	ENST00000262457.2:c.76G>A	9.37:g.102866879G>A	ENSP00000262457:p.Asp26Asn		101906700	A2A2Y2|Q2NKL0|Q5W0T6|Q8IVX8|Q9BRB9|Q9Y488|Q9Y498	Missense_Mutation	SNP	superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMSmart_SM00015,HMMPfam_IQ	p.D26N	ENST00000262457.2	37	c.76	CCDS6746.1	9	.	.	.	.	.	.	.	.	.	.	G	13.44	2.237131	0.39498	.	.	ENSG00000119509	ENST00000262457;ENST00000262456;ENST00000374921	T;T;T	0.64260	-0.05;-0.05;-0.09	5.49	4.59	0.56863	Ankyrin repeat-containing domain (4);	0.045826	0.85682	N	0.000000	T	0.37046	0.0989	N	0.10707	0.03	0.80722	D	1	B;B	0.21452	0.039;0.056	B;B	0.21708	0.036;0.034	T	0.14699	-1.0463	10	0.15499	T	0.54	.	8.183	0.31322	0.0854:0.1575:0.757:0.0	.	26;26	Q9Y283;Q9Y283-2	INVS_HUMAN;.	N	26	ENSP00000262457:D26N;ENSP00000262456:D26N;ENSP00000364056:D26N	ENSP00000262456:D26N	D	+	1	0	INVS	101906700	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	4.134000	0.57990	1.293000	0.44690	0.563000	0.77884	GAT	-	superfamily_Ankyrin repeat		0.443	INVS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	INVS	protein_coding	OTTHUMT00000053407.1	G	NM_014425		101906700	+1	no_errors	NM_014425	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
STAB2	55576	genome.wustl.edu	37	12	104129311	104129311	+	Silent	SNP	C	C	T			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr12:104129311C>T	ENST00000388887.2	+	52	5707	c.5503C>T	c.(5503-5505)Ctg>Ttg	p.L1835L		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CTGGAAGACCCTGCAAGGTTC	0.547																																																0			12											74.0	63.0	67.0					12																	104129311		2203	4300	6503	102653441	SO:0001819	synonymous_variant	55576			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.5503C>T	12.37:g.104129311C>T			102653441		Silent	SNP	HMMSmart_EGF,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_alliinase,superfamily_SSF57196,HMMPfam_EGF,superfamily_BIgH3_FAS1,HMMPfam_Fasciclin,HMMSmart_FAS1,HMMPfam_Laminin_EGF,PatternScan_EGF_LAM_1,superfamily_Grow_fac_recept,HMMPfam_EGF_2,HMMSmart_LINK,HMMPfam_Xlink,superfamily_C-type_lectin_fold,PatternScan_LINK_1	p.L1835	ENST00000388887.2	37	c.5503	CCDS31888.1	12																																																																																			-	superfamily_BIgH3_FAS1,HMMPfam_Fasciclin,HMMSmart_FAS1		0.547	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	protein_coding	OTTHUMT00000407089.1	C			102653441	+1	no_errors	NM_017564	genbank	human	reviewed	54_36p	silent	SNP	0.983	T
COL11A1	1301	genome.wustl.edu	37	1	103380331	103380331	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr1:103380331C>T	ENST00000370096.3	-	51	4165	c.3853G>A	c.(3853-3855)Ggt>Agt	p.G1285S	COL11A1_ENST00000358392.2_Missense_Mutation_p.G1297S|COL11A1_ENST00000512756.1_Missense_Mutation_p.G1169S|COL11A1_ENST00000353414.4_Missense_Mutation_p.G1246S	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1285	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCAGGTGGACCAGCTTCCCCT	0.478																																																0			1											51.0	50.0	50.0					1																	103380331		2203	4300	6503	103152919	SO:0001583	missense	1301			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3853G>A	1.37:g.103380331C>T	ENSP00000359114:p.Gly1285Ser		103152919	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	HMMSmart_TSPN,superfamily_ConA_like_lec_gl,HMMSmart_LamG,HMMPfam_Laminin_G_2,HMMPfam_Collagen,HMMSmart_COLFI,HMMPfam_COLFI	p.G1297S	ENST00000370096.3	37	c.3889	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.566278	0.86439	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.97888	-4.24;-4.17;-4.59;-4.59	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.99080	0.9684	M	0.91561	3.22	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	0.97110	0.994;0.999;1.0;0.998;0.996	D	0.99577	1.0972	10	0.87932	D	0	.	19.8928	0.96935	0.0:1.0:0.0:0.0	.	1169;1246;1297;1285;505	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	S	1285;1297;1246;505;1169	ENSP00000359114:G1285S;ENSP00000351163:G1297S;ENSP00000302551:G1246S;ENSP00000426533:G1169S	ENSP00000302551:G1246S	G	-	1	0	COL11A1	103152919	1.000000	0.71417	0.994000	0.49952	0.940000	0.58332	7.403000	0.79983	2.713000	0.92767	0.591000	0.81541	GGT	-	HMMPfam_Collagen		0.478	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	protein_coding	OTTHUMT00000029997.1	C	NM_080630		103152919	-1	no_errors	NM_080629	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
ACACB	32	genome.wustl.edu	37	12	109654609	109654609	+	Missense_Mutation	SNP	G	G	A	rs146920013		TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr12:109654609G>A	ENST00000338432.7	+	24	3567	c.3448G>A	c.(3448-3450)Gac>Aac	p.D1150N	ACACB_ENST00000377854.5_Intron|ACACB_ENST00000377848.3_Missense_Mutation_p.D1150N			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1150					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	AGCCCACTACGACAAGTGTGT	0.562																																																0			12						G	ASN/ASP	0,4406		0,0,2203	115.0	105.0	109.0		3448	5.3	1.0	12	dbSNP_134	109	1,8599	1.2+/-3.3	0,1,4299	no	missense	ACACB	NM_001093.3	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1150/2459	109654609	1,13005	2203	4300	6503	108138992	SO:0001583	missense	32			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.3448G>A	12.37:g.109654609G>A	ENSP00000341044:p.Asp1150Asn		108138992	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	HMMPfam_CPSase_L_chain,superfamily_PreATP-grasp domain,superfamily_Glutathione synthetase ATP-binding domain-like,HMMPfam_CPSase_L_D2,PatternScan_CPSASE_1,PatternScan_CPSASE_2,superfamily_Rudiment single hybrid motif,HMMPfam_Biotin_carb_C,superfamily_Single hybrid motif,HMMPfam_Biotin_lipoyl,HMMPfam_ACC_central,superfamily_ClpP/crotonase,HMMPfam_Carboxyl_trans	p.D1150N	ENST00000338432.7	37	c.3448	CCDS31898.1	12	.	.	.	.	.	.	.	.	.	.	G	25.7	4.664412	0.88251	0.0	1.16E-4	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000390027	T;T	0.47177	0.85;0.85	5.33	5.33	0.75918	Acetyl-CoA carboxylase, central domain (1);	0.093979	0.64402	D	0.000001	T	0.60625	0.2283	M	0.88377	2.95	0.80722	D	1	B	0.26258	0.145	B	0.28385	0.089	T	0.65393	-0.6179	10	0.87932	D	0	.	19.4891	0.95042	0.0:0.0:1.0:0.0	.	1150	O00763	ACACB_HUMAN	N	1150;1150;381	ENSP00000341044:D1150N;ENSP00000367079:D1150N	ENSP00000341044:D1150N	D	+	1	0	ACACB	108138992	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.756000	0.98918	2.679000	0.91253	0.650000	0.86243	GAC	-	HMMPfam_ACC_central		0.562	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACB	protein_coding	OTTHUMT00000403077.1	G	NM_001093		108138992	+1	no_errors	NM_001093	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
COL27A1	85301	genome.wustl.edu	37	9	117054448	117054448	+	Silent	SNP	G	G	T			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr9:117054448G>T	ENST00000356083.3	+	49	4933	c.4542G>T	c.(4540-4542)ggG>ggT	p.G1514G		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1514	Collagen-like 15.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GCAGAACGGGGCTCCCTGGAA	0.562																																																0			9											33.0	30.0	31.0					9																	117054448		2184	4270	6454	116094269	SO:0001819	synonymous_variant	85301			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.4542G>T	9.37:g.117054448G>T			116094269	Q66K43|Q96JF7	Silent	SNP	HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Collagen,HMMSmart_SM00038,HMMPfam_COLFI	p.G1514	ENST00000356083.3	37	c.4542	CCDS6802.1	9																																																																																			-	HMMPfam_Collagen		0.562	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL27A1	protein_coding	OTTHUMT00000053763.1	G	NM_032888		116094269	+1	no_errors	NM_032888	genbank	human	provisional	54_36p	silent	SNP	0.997	T
KLHL13	90293	genome.wustl.edu	37	X	117054278	117054278	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chrX:117054278C>A	ENST00000262820.3	-	3	1205	c.296G>T	c.(295-297)gGt>gTt	p.G99V	KLHL13_ENST00000371878.1_Missense_Mutation_p.G48V|KLHL13_ENST00000540167.1_Missense_Mutation_p.G83V|KLHL13_ENST00000469946.1_Missense_Mutation_p.G48V|KLHL13_ENST00000541812.1_Missense_Mutation_p.G83V|KLHL13_ENST00000371876.1_Missense_Mutation_p.G48V|KLHL13_ENST00000545703.1_Missense_Mutation_p.G57V|KLHL13_ENST00000539496.1_Missense_Mutation_p.G102V|KLHL13_ENST00000371882.1_Missense_Mutation_p.G48V	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	99	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						ATCTGTGTCACCTGGCATCAG	0.433																																																0			X											201.0	154.0	170.0					X																	117054278		2203	4300	6503	116938306	SO:0001583	missense	90293			AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"""Kelch-like"", ""BTB/POZ domain containing"""	22931	protein-coding gene	gene with protein product		300655	"""BTB and kelch domain containing 2, KIAA1309"", ""kelch-like 13 (Drosophila)"""	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.296G>T	X.37:g.117054278C>A	ENSP00000262820:p.Gly99Val		116938306	B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Missense_Mutation	SNP	superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,HMMPfam_BACK,superfamily_Galactose oxidase central domain,HMMSmart_SM00612,HMMPfam_Kelch_1	p.G99V	ENST00000262820.3	37	c.296	CCDS14571.1	X	.	.	.	.	.	.	.	.	.	.	c	18.25	3.581836	0.65992	.	.	ENSG00000003096	ENST00000371882;ENST00000371876;ENST00000371878;ENST00000447671;ENST00000541812;ENST00000540167;ENST00000539496;ENST00000262820;ENST00000545703;ENST00000469946	T;T;T;T;T;T;T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83	4.83	4.83	0.62350	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.051583	0.85682	D	0.000000	T	0.64757	0.2627	N	0.24115	0.695	0.80722	D	1	B;B;B;B	0.24768	0.0;0.111;0.016;0.047	B;B;B;B	0.24701	0.009;0.053;0.033;0.055	T	0.65183	-0.6230	10	0.66056	D	0.02	.	17.1231	0.86706	0.0:1.0:0.0:0.0	.	83;102;93;99	Q9P2N7-3;Q9P2N7-5;Q9P2N7-4;Q9P2N7	.;.;.;KLH13_HUMAN	V	48;48;48;48;83;83;102;99;57;48	ENSP00000360949:G48V;ENSP00000360943:G48V;ENSP00000360945:G48V;ENSP00000412640:G48V;ENSP00000444450:G83V;ENSP00000441029:G83V;ENSP00000443191:G102V;ENSP00000262820:G99V;ENSP00000440707:G57V;ENSP00000419803:G48V	ENSP00000262820:G99V	G	-	2	0	KLHL13	116938306	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.648000	0.83479	2.222000	0.72286	0.540000	0.68198	GGT	-	superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225		0.433	KLHL13-201	KNOWN	basic|CCDS	protein_coding	KLHL13	protein_coding		C	NM_033495		116938306	-1	no_errors	NM_033495	genbank	human	validated	54_36p	missense	SNP	1.000	A
GLUD2	2747	genome.wustl.edu	37	X	120183098	120183098	+	Missense_Mutation	SNP	A	A	C			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chrX:120183098A>C	ENST00000328078.1	+	1	1637	c.1560A>C	c.(1558-1560)caA>caC	p.Q520H		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	520					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						CTGCCAGGCAAATTATGCACA	0.468																																																0			X											160.0	122.0	135.0					X																	120183098		2203	4300	6503	120010779	SO:0001583	missense	2747			U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"""glutamate dehydrogenase pseudogene 1"""	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.1560A>C	X.37:g.120183098A>C	ENSP00000327589:p.Gln520His		120010779	B2R8G0|Q9UDQ4	Missense_Mutation	SNP	superfamily_SSF53223,HMMPfam_ELFV_dehydrog_N,PatternScan_GLFV_DEHYDROGENASE,HMMPfam_ELFV_dehydrog,superfamily_NAD(P)-bd	p.Q520H	ENST00000328078.1	37	c.1560	CCDS14603.1	X	.	.	.	.	.	.	.	.	.	.	A	11.29	1.594322	0.28445	.	.	ENSG00000182890	ENST00000328078	D	0.96427	-4.01	1.62	0.34	0.15985	Glutamate/phenylalanine/leucine/valine dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.110397	0.64402	D	0.000006	D	0.92169	0.7517	L	0.50333	1.59	0.54753	D	0.999984	P	0.48589	0.912	B	0.41440	0.357	D	0.86575	0.1850	10	0.49607	T	0.09	.	4.8397	0.13483	0.7251:0.0:0.0:0.2749	.	520	P49448	DHE4_HUMAN	H	520	ENSP00000327589:Q520H	ENSP00000327589:Q520H	Q	+	3	2	GLUD2	120010779	1.000000	0.71417	0.082000	0.20525	0.073000	0.16967	6.284000	0.72652	0.046000	0.15833	0.336000	0.21669	CAA	-	superfamily_NAD(P)-bd		0.468	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLUD2	protein_coding	OTTHUMT00000058133.1	A	NM_012084		120010779	+1	no_errors	NM_012084	genbank	human	validated	54_36p	missense	SNP	1.000	C
REG4	83998	genome.wustl.edu	37	1	120345694	120345694	+	Silent	SNP	G	G	T	rs202195883		TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr1:120345694G>T	ENST00000354219.1	-	4	601	c.162C>A	c.(160-162)gcC>gcA	p.A54A	REG4_ENST00000530654.1_Silent_p.A54A|REG4_ENST00000369401.4_Silent_p.A54A|REG4_ENST00000256585.5_Silent_p.A54A	NM_001159352.1	NP_001152824.1	Q9BYZ8	REG4_HUMAN	regenerating islet-derived family, member 4	54	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|mannan binding (GO:2001065)	p.A54A(1)		central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2)	15	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)		TTCTTACCTCGGCATCAGACC	0.502																																																1	Substitution - coding silent(1)	central_nervous_system(1)	1											73.0	69.0	70.0					1																	120345694		2203	4300	6503	120147217	SO:0001819	synonymous_variant	83998			AY007243	CCDS906.1, CCDS53354.1	1p13.1-p12	2008-02-05			ENSG00000134193	ENSG00000134193			22977	protein-coding gene	gene with protein product	"""regenerating gene type IV"", "" gastrointestinal secretory protein"""	609846				11311942, 12455032	Standard	NM_032044		Approved	REG-IV, RELP, GISP	uc001eif.3	Q9BYZ8	OTTHUMG00000012175	ENST00000354219.1:c.162C>A	1.37:g.120345694G>T			120147217	Q8NER6|Q8NER7	Silent	SNP	superfamily_C-type lectin-like,HMMSmart_SM00034,HMMPfam_Lectin_C,PatternScan_C_TYPE_LECTIN_1	p.A54	ENST00000354219.1	37	c.162	CCDS906.1	1																																																																																			-	superfamily_C-type lectin-like,HMMSmart_SM00034,HMMPfam_Lectin_C		0.502	REG4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	REG4	protein_coding	OTTHUMT00000033675.1	G	NM_032044		120147217	-1	no_errors	NM_032044	genbank	human	validated	54_36p	silent	SNP	0.998	T
SLC13A1	6561	genome.wustl.edu	37	7	122768992	122768992	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr7:122768992T>C	ENST00000194130.2	-	10	1079	c.1040A>G	c.(1039-1041)gAa>gGa	p.E347G	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	347					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	GGTCACAATTTCTTGATACCT	0.418																																																0			7											69.0	61.0	63.0					7																	122768992		2203	4300	6503	122556228	SO:0001583	missense	6561				CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"""Solute carriers"""	10916	protein-coding gene	gene with protein product		606193	"""solute carrier family 13 (sodium/sulphate symporters), member 1"""			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.1040A>G	7.37:g.122768992T>C	ENSP00000194130:p.Glu347Gly		122556228	Q9H5Z0	Missense_Mutation	SNP	HMMPfam_Na_sulph_symp,PatternScan_NA_SULFATE	p.E347G	ENST00000194130.2	37	c.1040	CCDS5786.1	7	.	.	.	.	.	.	.	.	.	.	T	25.9	4.686205	0.88639	.	.	ENSG00000081800	ENST00000194130	T	0.05447	3.44	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.36717	0.0977	H	0.94620	3.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.51140	-0.8743	10	0.87932	D	0	0.0243	15.4921	0.75615	0.0:0.0:0.0:1.0	.	347;347	A4D0X1;Q9BZW2	.;S13A1_HUMAN	G	347	ENSP00000194130:E347G	ENSP00000194130:E347G	E	-	2	0	SLC13A1	122556228	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.663000	0.74431	2.257000	0.74773	0.460000	0.39030	GAA	-	HMMPfam_Na_sulph_symp		0.418	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A1	protein_coding	OTTHUMT00000347404.1	T	NM_022444		122556228	-1	no_errors	NM_022444	genbank	human	validated	54_36p	missense	SNP	1.000	C
ACSL6	23305	genome.wustl.edu	37	5	131307292	131307292	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr5:131307292G>A	ENST00000379240.1	-	14	1463	c.1310C>T	c.(1309-1311)cCa>cTa	p.P437L	ACSL6_ENST00000379255.1_Missense_Mutation_p.P362L|ACSL6_ENST00000357096.1_Missense_Mutation_p.P362L|ACSL6_ENST00000379246.1_Missense_Mutation_p.P448L|ACSL6_ENST00000296869.4_Missense_Mutation_p.P462L|ACSL6_ENST00000379264.2_Missense_Mutation_p.P462L|ACSL6_ENST00000544770.1_Missense_Mutation_p.P346L|ACSL6_ENST00000379244.1_Missense_Mutation_p.P437L|ACSL6_ENST00000379249.3_Missense_Mutation_p.P437L|ACSL6_ENST00000431707.1_Missense_Mutation_p.P417L|ACSL6_ENST00000543479.1_Missense_Mutation_p.P437L|ACSL6_ENST00000379272.2_Missense_Mutation_p.P452L			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	437					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGGTGATGCTGGGGCTGCTCC	0.527																																																0			5											61.0	51.0	55.0					5																	131307292		2203	4300	6503	131335191	SO:0001583	missense	23305			AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"""Acyl-CoA synthetase family"""	16496	protein-coding gene	gene with protein product		604443	"""fatty-acid-Coenzyme A ligase, long-chain 6"""	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.1310C>T	5.37:g.131307292G>A	ENSP00000368542:p.Pro437Leu		131335191	J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Missense_Mutation	SNP	superfamily_SSF56801,HMMPfam_AMP-binding,PatternScan_AMP_BINDING	p.P462L	ENST00000379240.1	37	c.1385		5	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722392	0.89298	.	.	ENSG00000164398	ENST00000379249;ENST00000379264;ENST00000379272;ENST00000357096;ENST00000379255;ENST00000296869;ENST00000379246;ENST00000379244;ENST00000544770;ENST00000379240;ENST00000431707;ENST00000543479	T;T;T;T;T;T;T;T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51	5.94	5.94	0.96194	AMP-dependent synthetase/ligase (1);	0.044629	0.85682	D	0.000000	T	0.58793	0.2147	H	0.98333	4.205	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.982;0.999;0.999;0.994;0.998;0.999;0.999	D;D;D;D;D;D;D	0.75484	0.976;0.985;0.986;0.986;0.976;0.985;0.976	T	0.75172	-0.3411	10	0.87932	D	0	.	20.4237	0.99064	0.0:0.0:1.0:0.0	.	437;452;427;437;362;462;462	Q9UKU0-3;Q9UKU0-6;B4DFW3;Q9UKU0;Q9UKU0-7;Q9UKU0-1;Q9UKU0-8	.;.;.;ACSL6_HUMAN;.;.;.	L	437;462;452;362;362;462;448;437;346;437;417;437	ENSP00000368551:P437L;ENSP00000368566:P462L;ENSP00000368574:P452L;ENSP00000349608:P362L;ENSP00000368557:P362L;ENSP00000296869:P462L;ENSP00000368548:P448L;ENSP00000368546:P437L;ENSP00000445154:P346L;ENSP00000368542:P437L;ENSP00000413329:P417L;ENSP00000442124:P437L	ENSP00000296869:P462L	P	-	2	0	ACSL6	131335191	1.000000	0.71417	0.953000	0.39169	0.433000	0.31745	9.779000	0.99018	2.834000	0.97654	0.650000	0.86243	CCA	-	superfamily_SSF56801,HMMPfam_AMP-binding		0.527	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	ACSL6	protein_coding	OTTHUMT00000132622.1	G	NM_015256		131335191	-1	no_errors	NM_001009185	genbank	human	validated	54_36p	missense	SNP	1.000	A
STAG1	10274	genome.wustl.edu	37	3	136152417	136152417	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr3:136152417C>A	ENST00000383202.2	-	16	1887	c.1631G>T	c.(1630-1632)gGa>gTa	p.G544V	STAG1_ENST00000434713.2_Missense_Mutation_p.G318V|STAG1_ENST00000536929.1_Missense_Mutation_p.G128V|STAG1_ENST00000236698.5_Missense_Mutation_p.G544V	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	544					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						GGTACCCCTTCCCACTGGAGG	0.378																																																0			3											91.0	85.0	87.0					3																	136152417		2203	4300	6503	137635107	SO:0001583	missense	10274			Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.1631G>T	3.37:g.136152417C>A	ENSP00000372689:p.Gly544Val		137635107	O00539|Q6P275	Missense_Mutation	SNP	superfamily_ARM-type_fold,HMMPfam_STAG	p.G544V	ENST00000383202.2	37	c.1631	CCDS3090.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.7|27.7	4.850980|4.850980	0.91277|0.91277	.|.	.|.	ENSG00000118007|ENSG00000118007	ENST00000492318|ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929	.|T;T;T;T	.|0.38240	.|1.61;1.61;1.72;1.15	5.66|5.66	5.66|5.66	0.87406|0.87406	.|Armadillo-type fold (1);	.|0.103999	.|0.64402	.|D	.|0.000003	.|T	.|0.66086	.|0.2754	M|M	0.85041|0.85041	2.73|2.73	0.80722|0.80722	D|D	1|1	.|D;P;D	.|0.56287	.|0.975;0.867;0.975	.|D;P;D	.|0.66847	.|0.947;0.611;0.947	.|T	.|0.70081	.|-0.4970	.|10	.|0.72032	.|D	.|0.01	.|.	19.7468|19.7468	0.96255|0.96255	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|561;544;544	.|Q4LE48;Q6P275;Q8WVM7	.|.;.;STAG1_HUMAN	X|V	155|544;544;318;128	.|ENSP00000372689:G544V;ENSP00000236698:G544V;ENSP00000404396:G318V;ENSP00000445787:G128V	.|ENSP00000236698:G544V	E|G	-|-	1|2	0|0	STAG1|STAG1	137635107|137635107	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.487000|7.487000	0.81328|0.81328	2.678000|2.678000	0.91216|0.91216	0.563000|0.563000	0.77884|0.77884	GAA|GGA	-	superfamily_ARM-type_fold		0.378	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAG1	protein_coding	OTTHUMT00000357366.1	C	NM_005862		137635107	-1	no_errors	NM_005862	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
PCDHGC5	56097	genome.wustl.edu	37	5	140869168	140869168	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr5:140869168G>A	ENST00000252087.1	+	1	361	c.361G>A	c.(361-363)Gta>Ata	p.V121I	PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	121	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGTGTAGAGGTAGAGATCCT	0.547																																																0			5											76.0	77.0	77.0					5																	140869168		2203	4300	6503	140849352	SO:0001583	missense	56097			AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"""Cadherins / Protocadherins : Clustered"""	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.361G>A	5.37:g.140869168G>A	ENSP00000252087:p.Val121Ile		140849352	Q9Y5C2	Missense_Mutation	SNP	superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin	p.V121I	ENST00000252087.1	37	c.361	CCDS4263.1	5	.	.	.	.	.	.	.	.	.	.	G	6.830	0.522265	0.13066	.	.	ENSG00000240764	ENST00000252087	T	0.39997	1.05	6.08	4.32	0.51571	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.125029	0.36338	N	0.002650	T	0.33585	0.0868	N	0.14661	0.345	0.42698	D	0.993603	P;P	0.43352	0.804;0.704	P;B	0.47470	0.548;0.346	T	0.08513	-1.0718	10	0.32370	T	0.25	.	12.7438	0.57268	0.1313:0.0:0.8687:0.0	.	121;121	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	I	121	ENSP00000252087:V121I	ENSP00000252087:V121I	V	+	1	0	PCDHGC5	140849352	1.000000	0.71417	1.000000	0.80357	0.001000	0.01503	3.438000	0.52871	0.916000	0.36871	-0.768000	0.03414	GTA	-	superfamily_Cadherin-like,HMMSmart_SM00112,PatternScan_CADHERIN_1		0.547	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGC5	protein_coding	OTTHUMT00000251819.1	G	NM_018929		140849352	+1	no_errors	NM_018929	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
TONSL	4796	genome.wustl.edu	37	8	145665428	145665428	+	Missense_Mutation	SNP	C	C	A	rs565607454		TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr8:145665428C>A	ENST00000409379.3	-	11	1485	c.1456G>T	c.(1456-1458)Ggc>Tgc	p.G486C	AC084125.4_ENST00000442850.1_RNA|AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	486	Glu-rich.				cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						TCCACCTCGCCGGCCTCCAGG	0.662																																																0			8											22.0	24.0	23.0					8																	145665428		2200	4294	6494	145636236	SO:0001583	missense	4796				CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.1456G>T	8.37:g.145665428C>A	ENSP00000386239:p.Gly486Cys		145636236	B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP	HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like,superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,superfamily_RNI-like,HMMSmart_SM00368	p.G327C	ENST00000409379.3	37	c.979	CCDS34968.2	8	.	.	.	.	.	.	.	.	.	.	C	9.288	1.049841	0.19827	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.46063	0.88	5.7	4.54	0.55810	.	0.162277	0.64402	D	0.000002	T	0.24122	0.0584	N	0.08118	0	0.22754	N	0.998777	B	0.28820	0.224	B	0.31869	0.137	T	0.16928	-1.0386	10	0.38643	T	0.18	-1.3938	9.799	0.40753	0.0:0.0817:0.0:0.9183	.	486	Q96HA7	TONSL_HUMAN	C	486	ENSP00000386239:G486C	ENSP00000386239:G486C	G	-	1	0	TONSL	145636236	0.928000	0.31464	0.104000	0.21259	0.029000	0.11900	1.952000	0.40343	1.005000	0.39183	-0.238000	0.12139	GGC	-	superfamily_Ankyrin repeat		0.662	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFKBIL2	protein_coding	OTTHUMT00000329668.2	C	NM_013432		145636236	-1	no_errors	NM_013432	genbank	human	reviewed	54_36p	missense	SNP	0.997	A
SEMA6C	10500	genome.wustl.edu	37	1	151107653	151107653	+	Silent	SNP	A	A	G			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr1:151107653A>G	ENST00000341697.3	-	15	3257	c.1566T>C	c.(1564-1566)caT>caC	p.H522H	SEMA6C_ENST00000479820.1_5'Flank			Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	522					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GACAGGCCCCATGCCGGGCAC	0.617																																																0			1											74.0	76.0	75.0					1																	151107653		2203	4300	6503	149374277	SO:0001819	synonymous_variant	10500			AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"""Semaphorins"""	10740	protein-coding gene	gene with protein product	"""m-Sema Y2"""	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.1566T>C	1.37:g.151107653A>G			149374277	D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Silent	SNP	superfamily_Sema domain,HMMSmart_SM00630,HMMPfam_Sema,HMMPfam_PSI,superfamily_Plexin repeat	p.H522	ENST00000341697.3	37	c.1566	CCDS984.1	1																																																																																			-	HMMPfam_PSI,superfamily_Plexin repeat		0.617	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	SEMA6C	protein_coding	OTTHUMT00000034074.1	A	NM_030913		149374277	-1	no_errors	NM_030913	genbank	human	reviewed	54_36p	silent	SNP	0.870	G
HRNR	388697	genome.wustl.edu	37	1	152193691	152193691	+	Silent	SNP	A	A	G			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr1:152193691A>G	ENST00000368801.2	-	3	489	c.414T>C	c.(412-414)gaT>gaC	p.D138D	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	138					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGAATAGGAATCATTCTCTC	0.423																																																0			1											195.0	164.0	175.0					1																	152193691		2203	4300	6503	150460315	SO:0001819	synonymous_variant	388697			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.414T>C	1.37:g.152193691A>G			150460315	Q5DT20|Q5U1F4	Silent	SNP	superfamily_SSF47473,HMMPfam_S_100,PatternScan_S100_CABP,PatternScan_EF_HAND_1,HMMPfam_SVS_QK	p.D138	ENST00000368801.2	37	c.414	CCDS30859.1	1																																																																																			-	NULL		0.423	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	protein_coding	OTTHUMT00000034016.1	A	XM_373868		150460315	-1	no_errors	NM_001009931	genbank	human	validated	54_36p	silent	SNP	0.001	G
ASB10	136371	genome.wustl.edu	37	7	150878445	150878445	+	Nonsense_Mutation	SNP	C	C	A			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr7:150878445C>A	ENST00000420175.2	-	3	709	c.685G>T	c.(685-687)Gag>Tag	p.E229*	ASB10_ENST00000422024.1_Nonsense_Mutation_p.E274*|ASB10_ENST00000434669.1_Nonsense_Mutation_p.E274*|ASB10_ENST00000275838.1_Nonsense_Mutation_p.E229*|ASB10_ENST00000377867.3_Nonsense_Mutation_p.E214*			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	229					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCTGCCAGCTCCACATGGCCA	0.637																																																0			7											32.0	32.0	32.0					7																	150878445		2202	4299	6501	150509378	SO:0001587	stop_gained	136371			AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"""Ankyrin repeat domain containing"""	17185	protein-coding gene	gene with protein product		615054	"""ankyrin repeat and SOCS box-containing 10"", ""glaucoma 1, open angle, F (adult-onset)"""	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.685G>T	7.37:g.150878445C>A	ENSP00000391137:p.Glu229*		150509378	A0AVH0|Q6ZUL6	Nonsense_Mutation	SNP	superfamily_ANK,HMMPfam_Ank,HMMSmart_ANK,HMMPfam_SOCS_box	p.E229*	ENST00000420175.2	37	c.685	CCDS47750.2	7	.	.	.	.	.	.	.	.	.	.	C	39	7.405736	0.98265	.	.	ENSG00000146926	ENST00000275838;ENST00000377867;ENST00000422024;ENST00000434669;ENST00000420175	.	.	.	5.14	5.14	0.70334	.	0.432396	0.25338	N	0.031382	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-2.6237	13.672	0.62432	0.0:0.8452:0.1548:0.0	.	.	.	.	X	229;214;274;274;229	.	ENSP00000275838:E229X	E	-	1	0	ASB10	150509378	0.913000	0.31002	0.982000	0.44146	0.981000	0.71138	4.588000	0.60999	2.549000	0.85964	0.655000	0.94253	GAG	-	superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank		0.637	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB10	protein_coding	OTTHUMT00000347096.3	C	NM_080871		150509378	-1	no_errors	NM_080871	genbank	human	reviewed	54_36p	nonsense	SNP	0.362	A
KMT2C	58508	genome.wustl.edu	37	7	151859421	151859421	+	Silent	SNP	G	G	A	rs145379616		TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr7:151859421G>A	ENST00000262189.6	-	43	11459	c.11241C>T	c.(11239-11241)aaC>aaT	p.N3747N	KMT2C_ENST00000355193.2_Silent_p.N3747N	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3747					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										AGGCTACAGCGTTTCCTTCTA	0.507																																																0			7						G		1,4405	2.1+/-5.4	0,1,2202	111.0	111.0	111.0		11241	-11.0	0.0	7	dbSNP_134	111	0,8600		0,0,4300	no	coding-synonymous	MLL3	NM_170606.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		3747/4912	151859421	1,13005	2203	4300	6503	151490354	SO:0001819	synonymous_variant	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.11241C>T	7.37:g.151859421G>A			151490354	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	PatternScan_HMGI_Y,HMMPfam_AT_hook,HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger,HMMPfam_PHD,HMMSmart_SM00184,PatternScan_ZF_PHD_1,PatternScan_ATPASE_ALPHA_BETA,HMMSmart_SM00398,HMMPfam_HMG_box,HMMPfam_FYRN,HMMSmart_SM00541,HMMPfam_FYRC,HMMSmart_SM00542,superfamily_SET domain,HMMPfam_SET,HMMSmart_SM00317,HMMSmart_SM00508	p.N3747	ENST00000262189.6	37	c.11241	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	G	5.106	0.205255	0.09704	2.27E-4	0.0	ENSG00000055609	ENST00000360104	.	.	.	5.51	-11.0	0.00169	.	.	.	.	.	T	0.15392	0.0371	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.09271	-1.0682	4	.	.	.	.	3.8624	0.09002	0.08:0.309:0.2894:0.3217	.	.	.	.	C	1253	.	.	R	-	1	0	MLL3	151490354	0.000000	0.05858	0.000000	0.03702	0.109000	0.19521	-1.175000	0.03102	-2.091000	0.00858	-0.247000	0.11927	CGC	-	NULL		0.507	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	protein_coding	OTTHUMT00000318887.3	G			151490354	-1	no_errors	NM_170606	genbank	human	reviewed	54_36p	silent	SNP	0.021	A
SH3D19	152503	genome.wustl.edu	37	4	152095977	152095977	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr4:152095977T>A	ENST00000409252.2	-	6	1246	c.539A>T	c.(538-540)aAg>aTg	p.K180M	SH3D19_ENST00000427414.2_Missense_Mutation_p.K180M|SH3D19_ENST00000604030.1_5'Flank|SH3D19_ENST00000424281.1_Missense_Mutation_p.K180M|SH3D19_ENST00000409598.4_Missense_Mutation_p.K180M|SH3D19_ENST00000514152.1_Missense_Mutation_p.K180M|SH3D19_ENST00000455740.1_Missense_Mutation_p.K180M|SH3D19_ENST00000304527.4_Missense_Mutation_p.K180M			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	180	Pro-rich.				cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TCCCAGTGACTTGTATGCTTT	0.532																																																0			4											172.0	190.0	184.0					4																	152095977		2203	4300	6503	152315427	SO:0001583	missense	152503			BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"""EEN binding protein"""	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.539A>T	4.37:g.152095977T>A	ENSP00000386848:p.Lys180Met		152315427	B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	Missense_Mutation	SNP	superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2,HMMPfam_SH3_1	p.K177M	ENST00000409252.2	37	c.530	CCDS34077.2	4	.	.	.	.	.	.	.	.	.	.	T	13.96	2.393503	0.42410	.	.	ENSG00000109686	ENST00000409598;ENST00000304527;ENST00000455740;ENST00000424281;ENST00000427414;ENST00000409252;ENST00000514152	T;T;T;T;T;T;T	0.73047	-0.64;0.0;-0.64;-0.71;-0.71;0.0;-0.64	5.88	4.15	0.48705	.	4.218920	0.00166	N	0.000008	T	0.70885	0.3275	N	0.14661	0.345	0.24546	N	0.994047	D;D;D	0.58620	0.971;0.983;0.983	P;P;P	0.56823	0.526;0.718;0.807	T	0.59429	-0.7456	10	0.59425	D	0.04	-12.7177	8.4661	0.32958	0.0:0.74:0.0:0.26	.	180;180;180	Q5HYK7;Q5HYK7-2;Q5HYK7-3	SH319_HUMAN;.;.	M	180	ENSP00000387030:K180M;ENSP00000302913:K180M;ENSP00000416708:K180M;ENSP00000404542:K180M;ENSP00000415694:K180M;ENSP00000386848:K180M;ENSP00000423449:K180M	ENSP00000302913:K180M	K	-	2	0	SH3D19	152315427	0.998000	0.40836	1.000000	0.80357	0.973000	0.67179	0.365000	0.20348	0.824000	0.34613	-0.366000	0.07423	AAG	-	NULL		0.532	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	SH3D19	protein_coding	OTTHUMT00000335132.3	T	NM_001009555		152315427	-1	no_errors	NM_001009555	genbank	human	validated	54_36p	missense	SNP	0.993	A
CD1A	909	genome.wustl.edu	37	1	158226066	158226066	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr1:158226066C>T	ENST00000289429.5	+	3	1131	c.598C>T	c.(598-600)Cgg>Tgg	p.R200W		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	200	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	ACATCTCCAGCGGCAAGGTCA	0.463																																																0			1											115.0	97.0	103.0					1																	158226066		2203	4300	6503	156492690	SO:0001583	missense	909			M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1634	protein-coding gene	gene with protein product		188370	"""CD1A antigen, a polypeptide"", ""CD1a antigen"""	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.598C>T	1.37:g.158226066C>T	ENSP00000289429:p.Arg200Trp		156492690	D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Missense_Mutation	SNP	HMMPfam_MHC_I,superfamily_MHC_I/II-like_Ag-recog,superfamily_SSF48726,HMMPfam_C1-set,HMMSmart_IGc1	p.R200W	ENST00000289429.5	37	c.598	CCDS1174.1	1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.122253	0.37436	.	.	ENSG00000158477	ENST00000289429	T	0.19938	2.11	4.23	-8.46	0.00942	Immunoglobulin-like (1);MHC classes I/II-like antigen recognition protein (1);	0.232513	0.21411	N	0.074965	T	0.34483	0.0899	H	0.96547	3.84	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.47923	-0.9079	10	0.87932	D	0	-16.0605	9.723	0.40315	0.7099:0.1423:0.0:0.1478	.	200	P06126	CD1A_HUMAN	W	200	ENSP00000289429:R200W	ENSP00000289429:R200W	R	+	1	2	CD1A	156492690	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.433000	0.00472	-2.213000	0.00735	-1.815000	0.00603	CGG	-	superfamily_MHC_I/II-like_Ag-recog		0.463	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD1A	protein_coding	OTTHUMT00000046349.2	C	NM_001763		156492690	+1	no_errors	NM_001763	genbank	human	reviewed	54_36p	missense	SNP	0.000	T
PDE10A	10846	genome.wustl.edu	37	6	165752848	165752848	+	Splice_Site	SNP	C	C	A			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr6:165752848C>A	ENST00000366882.1	-	21	2222		c.e21-1		PDE10A_ENST00000539869.2_Splice_Site|PDE10A_ENST00000354448.4_Splice_Site			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A						blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	TTTCATCACCCTAAGATGAAT	0.328																																					Esophageal Squamous(22;308 615 5753 12038 40624)											0			6											102.0	103.0	103.0					6																	165752848		2203	4300	6503	165672838	SO:0001630	splice_region_variant	10846			AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.2068-1G>T	6.37:g.165752848C>A			165672838	Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Splice_Site	SNP	-	e20-1	ENST00000366882.1	37	c.2068-1		6	.	.	.	.	.	.	.	.	.	.	C	18.07	3.541482	0.65085	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0124	0.97464	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PDE10A	165672838	1.000000	0.71417	0.927000	0.36925	0.625000	0.37756	7.007000	0.76335	2.749000	0.94314	0.655000	0.94253	.	-	-		0.328	PDE10A-001	PUTATIVE	basic	protein_coding	PDE10A	protein_coding	OTTHUMT00000043031.1	C		Intron	165672838	-1	no_errors	NM_006661	genbank	human	validated	54_36p	splice_site	SNP	1.000	A
ZNF454	285676	genome.wustl.edu	37	5	178392373	178392373	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr5:178392373G>T	ENST00000320129.3	+	5	1271	c.968G>T	c.(967-969)aGt>aTt	p.S323I	ZNF454_ENST00000519564.1_Missense_Mutation_p.S323I	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	323					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		AATATCCACAGTGGAGAGAAA	0.388																																																0			5											54.0	57.0	56.0					5																	178392373		2203	4300	6503	178324979	SO:0001583	missense	285676			AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"""Zinc fingers, C2H2-type"", ""-"""	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.968G>T	5.37:g.178392373G>T	ENSP00000326249:p.Ser323Ile		178324979	Q2M1P2|Q2M323	Missense_Mutation	SNP	superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1	p.S323I	ENST00000320129.3	37	c.968	CCDS4441.1	5	.	.	.	.	.	.	.	.	.	.	G	10.38	1.335079	0.24253	.	.	ENSG00000178187	ENST00000320129;ENST00000519564	T;T	0.19105	2.17;2.17	4.11	0.9	0.19278	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.314770	0.23187	N	0.050952	T	0.24005	0.0581	L	0.55834	1.745	0.32477	N	0.542003	P	0.45634	0.863	B	0.44315	0.446	T	0.44390	-0.9331	10	0.87932	D	0	-5.7813	12.9418	0.58350	0.0:0.6411:0.3589:0.0	.	323	Q8N9F8	ZN454_HUMAN	I	323	ENSP00000326249:S323I;ENSP00000430354:S323I	ENSP00000326249:S323I	S	+	2	0	ZNF454	178324979	0.191000	0.23288	0.990000	0.47175	0.038000	0.13279	0.810000	0.27183	0.449000	0.26747	-0.283000	0.09986	AGT	-	superfamily_C2H2 and C2HC zinc fingers		0.388	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF454	protein_coding	OTTHUMT00000253476.2	G	XM_209718		178324979	+1	no_errors	NM_182594	genbank	human	provisional	54_36p	missense	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179640440	179640440	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr2:179640440T>C	ENST00000591111.1	-	28	6375	c.6151A>G	c.(6151-6153)Aaa>Gaa	p.K2051E	TTN_ENST00000589042.1_Missense_Mutation_p.K2051E|TTN_ENST00000342175.6_Missense_Mutation_p.K2005E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K2051E|TTN_ENST00000460472.2_Missense_Mutation_p.K2005E|TTN_ENST00000359218.5_Missense_Mutation_p.K2005E|TTN_ENST00000360870.5_Missense_Mutation_p.K2051E|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000584485.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12836					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)			GCAAGAGCTTTCTTTTCCTCT	0.408																																																0			2											160.0	163.0	162.0					2																	179640440		2203	4300	6503	179348685	SO:0001583	missense	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.6151A>G	2.37:g.179640440T>C	ENSP00000465570:p.Lys2051Glu		179348685	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	Missense_Mutation	SNP	superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2,HMMSmart_IG,HMMPfam_Titin_Z,HMMPfam_ig,PatternScan_IG_MHC,PatternScan_THIOL_PROTEASE_HIS	p.K2051E	ENST00000591111.1	37	c.6151		2	.	.	.	.	.	.	.	.	.	.	T	6.615	0.481937	0.12581	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.67345	-0.26;-0.14;-0.17;-0.18;-0.03	5.33	5.33	0.75918	Ribonuclease H-like (1);	.	.	.	.	T	0.73992	0.3658	L	0.34521	1.04	0.31285	N	0.690186	D;D;D;D;D	0.69078	0.982;0.982;0.982;0.991;0.997	P;P;P;P;D	0.71870	0.591;0.591;0.591;0.787;0.975	T	0.76737	-0.2849	9	0.87932	D	0	.	15.3078	0.74008	0.0:0.0:0.0:1.0	.	2005;2005;2005;2051;2051	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	E	2051;2005;2005;2005;2005;2051	ENSP00000343764:K2051E;ENSP00000434586:K2005E;ENSP00000340554:K2005E;ENSP00000352154:K2005E;ENSP00000354117:K2051E	ENSP00000340554:K2005E	K	-	1	0	TTN	179348685	1.000000	0.71417	1.000000	0.80357	0.109000	0.19521	8.013000	0.88655	2.025000	0.59659	0.533000	0.62120	AAA	-	NULL		0.408	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	T	NM_133378		179348685	-1	no_errors	NM_133379	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
USP13	8975	genome.wustl.edu	37	3	179458043	179458043	+	Silent	SNP	G	G	A			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr3:179458043G>A	ENST00000263966.3	+	11	1734	c.1263G>A	c.(1261-1263)caG>caA	p.Q421Q	USP13_ENST00000496897.1_Silent_p.Q356Q|USP13_ENST00000482333.1_3'UTR	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	421	USP.				autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			AGCCACAGCAGAACGGGATCT	0.468																																																0			3											80.0	78.0	79.0					3																	179458043		2203	4300	6503	180940737	SO:0001819	synonymous_variant	8975			U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"""Ubiquitin-specific peptidases"""	12611	protein-coding gene	gene with protein product		603591	"""ubiquitin specific protease 13 (isopeptidase T-3)"""			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.1263G>A	3.37:g.179458043G>A			180940737	A8K2S3|B4DYF3|D3DNS2|Q96B25	Silent	SNP	HMMSmart_ZnF_UBP,HMMPfam_zf-UBP,superfamily_SSF54001,HMMPfam_UCH,PatternScan_UCH_2_1,HMMPfam_UBA,HMMSmart_UBA,superfamily_UBA_like,PatternScan_UCH_2_2	p.Q421	ENST00000263966.3	37	c.1263	CCDS3235.1	3																																																																																			-	superfamily_SSF54001,HMMPfam_UCH		0.468	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP13	protein_coding	OTTHUMT00000349617.1	G			180940737	+1	no_errors	NM_003940	genbank	human	validated	54_36p	silent	SNP	1.000	A
LAMP3	27074	genome.wustl.edu	37	3	182871541	182871541	+	Missense_Mutation	SNP	C	C	T	rs374587489		TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr3:182871541C>T	ENST00000265598.3	-	2	943	c.688G>A	c.(688-690)Gtt>Att	p.V230I	LAMP3_ENST00000466939.1_Missense_Mutation_p.V206I	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	230					cell proliferation (GO:0008283)|immune system process (GO:0002376)	alveolar lamellar body membrane (GO:0097233)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			CCGTTTAGAACCTGATAAATT	0.522																																																0			3											106.0	100.0	102.0					3																	182871541		2203	4300	6503	184354235	SO:0001583	missense	27074			AB013924	CCDS3242.1	3q26.3-q27	2011-11-24			ENSG00000078081	ENSG00000078081		"""CD molecules"""	14582	protein-coding gene	gene with protein product		605883				9721848	Standard	NM_014398		Approved	LAMP, TSC403, DC-LAMP, DCLAMP, CD208	uc003flh.4	Q9UQV4	OTTHUMG00000158387	ENST00000265598.3:c.688G>A	3.37:g.182871541C>T	ENSP00000265598:p.Val230Ile		184354235	D3DNS4|O94781|Q8NEC8	Missense_Mutation	SNP	HMMPfam_Lamp	p.V230I	ENST00000265598.3	37	c.688	CCDS3242.1	3	.	.	.	.	.	.	.	.	.	.	C	14.17	2.454767	0.43634	.	.	ENSG00000078081	ENST00000265598;ENST00000466939	T;T	0.41758	0.99;0.99	5.81	4.94	0.65067	.	0.344015	0.24843	N	0.035154	T	0.34919	0.0914	L	0.48877	1.53	0.19300	N	0.999974	P	0.36753	0.568	B	0.33568	0.166	T	0.30446	-0.9978	10	0.51188	T	0.08	-5.6381	10.8909	0.46994	0.0:0.9141:0.0:0.0859	.	230	Q9UQV4	LAMP3_HUMAN	I	230;206	ENSP00000265598:V230I;ENSP00000418912:V206I	ENSP00000265598:V230I	V	-	1	0	LAMP3	184354235	0.939000	0.31865	0.160000	0.22671	0.016000	0.09150	2.444000	0.44890	1.461000	0.47929	0.655000	0.94253	GTT	-	HMMPfam_Lamp		0.522	LAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMP3	protein_coding	OTTHUMT00000350863.1	C			184354235	-1	no_errors	NM_014398	genbank	human	validated	54_36p	missense	SNP	0.328	T
HMCN1	83872	genome.wustl.edu	37	1	186113321	186113321	+	Silent	SNP	C	C	T	rs372274735	byFrequency	TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr1:186113321C>T	ENST00000271588.4	+	90	14170	c.13941C>T	c.(13939-13941)agC>agT	p.S4647S	HMCN1_ENST00000367492.2_Silent_p.S4647S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4647	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAGCATGGAGCGCTTGGCAGC	0.438													C|||	5	0.000998403	0.0	0.0	5008	,	,		17884	0.003		0.0	False		,,,				2504	0.002															0			1											114.0	117.0	116.0					1																	186113321		2203	4300	6503	184379944	SO:0001819	synonymous_variant	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.13941C>T	1.37:g.186113321C>T			184379944	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	superfamily_vWA-like,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig,HMMSmart_SM00408,HMMPfam_I-set,HMMSmart_SM00406,PatternScan_CECROPIN,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMSmart_SM00682,HMMPfam_G2F,superfamily_GFP-like,PatternScan_EGF_CA,HMMSmart_SM00179,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_ASX_HYDROXYL,HMMPfam_EGF_CA,PatternScan_EGF_2	p.S4647	ENST00000271588.4	37	c.13941	CCDS30956.1	1																																																																																			-	superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1		0.438	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	protein_coding	OTTHUMT00000131848.1	C	NM_031935		184379944	+1	no_errors	NM_031935	genbank	human	reviewed	54_36p	silent	SNP	0.005	T
HMCN1	83872	genome.wustl.edu	37	1	186120472	186120472	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr1:186120472C>T	ENST00000271588.4	+	94	14978	c.14749C>T	c.(14749-14751)Cgt>Tgt	p.R4917C	HMCN1_ENST00000367492.2_Missense_Mutation_p.R4917C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4917	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAATGTACCTCGTAGTCTTGG	0.323																																																0			1											97.0	96.0	96.0					1																	186120472		2203	4300	6503	184387095	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.14749C>T	1.37:g.186120472C>T	ENSP00000271588:p.Arg4917Cys		184387095	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	PatternScan_ASX_HYDROXYL,PatternScan_CECROPIN,HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00179,HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_EGF,HMMSmart_SM00181,HMMPfam_G2F,HMMSmart_SM00682,superfamily_GFP-like,PatternScan_EGF_2,HMMPfam_EGF_CA,HMMPfam_I-set,HMMPfam_ig,PatternScan_EGF_CA,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_EGF/Laminin	p.R4917C	ENST00000271588.4	37	c.14749	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209195	0.58343	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.23552	1.9;1.9	5.04	5.04	0.67666	G2 nidogen/fibulin G2F (2);Green fluorescent protein-like (1);	0.098532	0.64402	D	0.000003	T	0.44350	0.1289	L	0.51422	1.61	0.51767	D	0.999934	D	0.89917	1.0	D	0.77004	0.989	T	0.35871	-0.9771	10	0.72032	D	0.01	.	13.3662	0.60684	0.1577:0.8423:0.0:0.0	.	4917	Q96RW7	HMCN1_HUMAN	C	4917	ENSP00000271588:R4917C;ENSP00000356462:R4917C	ENSP00000271588:R4917C	R	+	1	0	HMCN1	184387095	1.000000	0.71417	0.995000	0.50966	0.523000	0.34469	4.892000	0.63193	2.325000	0.78763	0.591000	0.81541	CGT	-	HMMPfam_G2F,HMMSmart_SM00682,superfamily_GFP-like		0.323	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	protein_coding	OTTHUMT00000131848.1	C	NM_031935		184387095	+1	no_errors	NM_031935	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
KCNT2	343450	genome.wustl.edu	37	1	196392244	196392244	+	Splice_Site	SNP	C	C	A			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr1:196392244C>A	ENST00000294725.9	-	12	2037		c.e12-1		KCNT2_ENST00000367433.5_Splice_Site|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000498426.1_Splice_Site|KCNT2_ENST00000609185.1_Splice_Site|KCNT2_ENST00000367431.4_Splice_Site			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2						potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GTCATCCATCCTAAATACAGA	0.338																																																0			1											59.0	54.0	56.0					1																	196392244		2202	4297	6499	194658867	SO:0001630	splice_region_variant	343450			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.1122-1G>T	1.37:g.196392244C>A			194658867	Q3SY59|Q5VTN1|Q6ZMT3	Splice_Site	SNP	-	e12-1	ENST00000294725.9	37	c.1122-1	CCDS1384.1	1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.894121	0.72639	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000535608;ENST00000294725	.	.	.	5.38	4.46	0.54185	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3075	0.66393	0.0:0.9281:0.0:0.0719	.	.	.	.	.	-1	.	.	.	-	.	.	KCNT2	194658867	1.000000	0.71417	0.991000	0.47740	0.899000	0.52679	7.776000	0.85560	1.396000	0.46663	0.585000	0.79938	.	-	-		0.338	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNT2	protein_coding	OTTHUMT00000086418.2	C	NM_198503	Intron	194658867	-1	no_errors	NM_198503	genbank	human	validated	54_36p	splice_site	SNP	1.000	A
GPR25	2848	genome.wustl.edu	37	1	200843065	200843065	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr1:200843065C>G	ENST00000304244.2	+	1	983	c.900C>G	c.(898-900)agC>agG	p.S300R		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	300					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						TCGTCAACAGCTGCGCCAACC	0.731																																																0			1											19.0	22.0	21.0					1																	200843065		2173	4248	6421	199109688	SO:0001583	missense	2848			U91939	CCDS1405.1	1q32.1	2012-08-21			ENSG00000170128	ENSG00000170128		"""GPCR / Class A : Orphans"""	4480	protein-coding gene	gene with protein product		602174				9020062	Standard	NM_005298		Approved		uc001gvn.2	O00155	OTTHUMG00000035788	ENST00000304244.2:c.900C>G	1.37:g.200843065C>G	ENSP00000301917:p.Ser300Arg		199109688	A0AVJ5	Missense_Mutation	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.S300R	ENST00000304244.2	37	c.900	CCDS1405.1	1	.	.	.	.	.	.	.	.	.	.	C	20.0	3.930623	0.73327	.	.	ENSG00000170128	ENST00000304244	T	0.79653	-1.29	4.53	2.57	0.30868	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39146	U	0.001442	D	0.90717	0.7087	H	0.94264	3.515	0.40220	D	0.977723	D	0.89917	1.0	D	0.97110	1.0	D	0.90484	0.4462	10	0.72032	D	0.01	-15.3385	8.3655	0.32385	0.1519:0.7612:0.0:0.0869	.	300	O00155	GPR25_HUMAN	R	300	ENSP00000301917:S300R	ENSP00000301917:S300R	S	+	3	2	GPR25	199109688	1.000000	0.71417	0.989000	0.46669	0.996000	0.88848	4.592000	0.61027	0.854000	0.35336	0.462000	0.41574	AGC	-	superfamily_SSF81321,HMMPfam_7tm_1		0.731	GPR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR25	protein_coding	OTTHUMT00000087056.1	C	NM_005298		199109688	+1	no_errors	NM_005298	genbank	human	provisional	54_36p	missense	SNP	1.000	G
IL20	50604	genome.wustl.edu	37	1	207039902	207039902	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr1:207039902C>A	ENST00000367098.1	+	4	662	c.299C>A	c.(298-300)aCc>aAc	p.T100N	IL20_ENST00000391930.2_Missense_Mutation_p.T100N|IL20_ENST00000367096.3_Missense_Mutation_p.T100N			Q9UHF5	IL17B_HUMAN	interleukin 20	0					cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1)	9	Breast(84;0.201)			OV - Ovarian serous cystadenocarcinoma(81;0.00459)		AACTACCAGACCCCTGACCAT	0.498																																																0			1											186.0	196.0	193.0					1																	207039902		2203	4300	6503	205106525	SO:0001583	missense	50604			AF224266	CCDS1470.1	1q32	2008-02-05			ENSG00000162891	ENSG00000162891		"""Interleukins and interleukin receptors"""	6002	protein-coding gene	gene with protein product		605619				11163236	Standard	NM_018724		Approved	ZCYTO10, IL10D, IL-20	uc001her.3	Q9NYY1	OTTHUMG00000036456	ENST00000367098.1:c.299C>A	1.37:g.207039902C>A	ENSP00000356065:p.Thr100Asn		205106525	Q14CE5	Missense_Mutation	SNP	HMMPfam_IL10,superfamily_4_helix_cytokine,HMMSmart_IL10,PatternScan_INTERLEUKIN_10	p.T100N	ENST00000367098.1	37	c.299	CCDS1470.1	1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.151834	0.57151	.	.	ENSG00000162891	ENST00000367098;ENST00000367096;ENST00000391930	T;T;T	0.56444	0.46;0.46;2.33	5.06	4.13	0.48395	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.404883	0.27031	N	0.021267	T	0.57315	0.2045	L	0.43923	1.385	0.31908	N	0.615128	D;D	0.58970	0.98;0.984	P;P	0.57679	0.731;0.825	T	0.63484	-0.6627	10	0.38643	T	0.18	-5.2677	11.731	0.51737	0.0:0.8219:0.1781:0.0	.	100;100	Q2THG6;Q9NYY1	.;IL20_HUMAN	N	100	ENSP00000356065:T100N;ENSP00000356063:T100N;ENSP00000375796:T100N	ENSP00000356063:T100N	T	+	2	0	IL20	205106525	0.000000	0.05858	0.773000	0.31616	0.822000	0.46500	0.387000	0.20718	1.216000	0.43427	0.655000	0.94253	ACC	-	HMMPfam_IL10,superfamily_4_helix_cytokine,HMMSmart_IL10		0.498	IL20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL20	protein_coding	OTTHUMT00000088676.1	C	NM_018724		205106525	+1	no_errors	NM_018724	genbank	human	reviewed	54_36p	missense	SNP	0.980	A
ABCA12	26154	genome.wustl.edu	37	2	215802269	215802269	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr2:215802269A>G	ENST00000272895.7	-	51	7726	c.7507T>C	c.(7507-7509)Ttc>Ctc	p.F2503L	ABCA12_ENST00000389661.4_Missense_Mutation_p.F2185L|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2503					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGCTGCATGAACTTTGTGAGG	0.433																																					Ovarian(66;664 1488 5121 34295)											0			2											158.0	144.0	149.0					2																	215802269		2203	4300	6503	215510514	SO:0001583	missense	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.7507T>C	2.37:g.215802269A>G	ENSP00000272895:p.Phe2503Leu		215510514	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1	p.F2503L	ENST00000272895.7	37	c.7507	CCDS33372.1	2	.	.	.	.	.	.	.	.	.	.	A	22.4	4.291214	0.80914	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.86769	-2.17;-2.17	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000001	D	0.92071	0.7487	M	0.70275	2.135	0.80722	D	1	B;D	0.63046	0.264;0.992	B;D	0.63703	0.379;0.917	D	0.92489	0.5999	10	0.56958	D	0.05	.	14.8916	0.70614	1.0:0.0:0.0:0.0	.	2503;2185	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	L	2503;2185	ENSP00000272895:F2503L;ENSP00000374312:F2185L	ENSP00000272895:F2503L	F	-	1	0	ABCA12	215510514	1.000000	0.71417	0.971000	0.41717	0.641000	0.38312	8.887000	0.92456	2.146000	0.66826	0.533000	0.62120	TTC	-	superfamily_P-loop containing nucleoside triphosphate hydrolases		0.433	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	protein_coding	OTTHUMT00000337111.1	A	NM_173076		215510514	-1	no_errors	NM_173076	genbank	human	reviewed	54_36p	missense	SNP	0.997	G
CDC42BPA	8476	genome.wustl.edu	37	1	227192805	227192805	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr1:227192805C>A	ENST00000366769.3	-	34	6051	c.4760G>T	c.(4759-4761)cGg>cTg	p.R1587L	CDC42BPA_ENST00000334218.5_Missense_Mutation_p.R1649L|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.R1600L|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.R1506L|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.R1559L|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.R1567L|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.R1622L	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TTCCTGAGGCCGAGGGTTCTA	0.453																																																0			1											109.0	103.0	105.0					1																	227192805		2203	4300	6503	225259428	SO:0001583	missense	8476			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.4760G>T	1.37:g.227192805C>A	ENSP00000355731:p.Arg1587Leu		225259428		Missense_Mutation	SNP	superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_S_TK_X,HMMPfam_Pkinase_C,HMMPfam_DMPK_coil,superfamily_SSF57889,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,PatternScan_C_TYPE_LECTIN_1,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,HMMPfam_CNH,HMMSmart_CNH,HMMSmart_PBD	p.R1587L	ENST00000366769.3	37	c.4760	CCDS1558.1	1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.599863	0.46318	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.72942	-0.17;-0.16;-0.7;-0.18;-0.21;-0.17;-0.16	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.67933	0.2946	N	0.19112	0.55	0.80722	D	1	P;B;B;B;P;P;P	0.49358	0.923;0.056;0.0;0.294;0.849;0.913;0.896	P;B;B;B;B;B;P	0.51266	0.523;0.02;0.001;0.169;0.342;0.342;0.664	T	0.62671	-0.6805	10	0.21540	T	0.41	.	20.4366	0.99092	0.0:1.0:0.0:0.0	.	1567;1559;484;1506;1587;1622;851	F5H5N0;Q5VT25-4;Q5T7A7;Q5VT25-3;Q5VT25-5;Q5VT25-2;Q5T799	.;.;.;.;.;.;.	L	1587;1506;1649;1622;1559;1567;1600	ENSP00000355731:R1587L;ENSP00000355729:R1506L;ENSP00000335341:R1649L;ENSP00000355728:R1622L;ENSP00000355726:R1559L;ENSP00000443275:R1567L;ENSP00000355727:R1600L	ENSP00000335341:R1649L	R	-	2	0	CDC42BPA	225259428	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.254000	0.78329	2.837000	0.97791	0.591000	0.81541	CGG	-	HMMSmart_PBD		0.453	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPA	protein_coding	OTTHUMT00000091696.1	C	NM_014826		225259428	-1	no_errors	NM_003607	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
CAPN9	10753	genome.wustl.edu	37	1	230928230	230928230	+	Missense_Mutation	SNP	A	A	C			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr1:230928230A>C	ENST00000271971.2	+	16	1894	c.1781A>C	c.(1780-1782)aAg>aCg	p.K594T	CAPN9_ENST00000480004.1_3'UTR|RP11-99J16__A.2_ENST00000412344.1_RNA|RP11-99J16__A.2_ENST00000428480.1_RNA|RP11-99J16__A.2_ENST00000452640.1_RNA|CAPN9_ENST00000366666.2_Missense_Mutation_p.K531T|CAPN9_ENST00000354537.1_Missense_Mutation_p.K568T	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	594	Domain IV.|EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.|EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GACAAGCTGAAGCAGTGGATT	0.522																																																0			1											132.0	119.0	124.0					1																	230928230		2203	4300	6503	228994853	SO:0001583	missense	10753			AF022799	CCDS1586.1, CCDS31053.1	1q42.11-q42.3	2013-01-10	2004-11-11		ENSG00000135773	ENSG00000135773		"""EF-hand domain containing"""	1486	protein-coding gene	gene with protein product	"""novel calpain large subunit-4"""	606401	"""calpain 9 (nCL-4)"""			9524069, 10835488	Standard	XM_005273010		Approved	nCL-4, GC36	uc001htz.1	O14815	OTTHUMG00000037779	ENST00000271971.2:c.1781A>C	1.37:g.230928230A>C	ENSP00000271971:p.Lys594Thr		228994853	B1APS1|B1AQI0|Q9NS74	Missense_Mutation	SNP	superfamily_Cysteine proteinases,HMMSmart_SM00230,HMMPfam_Peptidase_C2,PatternScan_THIOL_PROTEASE_CYS,HMMPfam_Calpain_III,HMMSmart_SM00720,superfamily_Calpain large subunit middle domain (domain III),superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1	p.K594T	ENST00000271971.2	37	c.1781	CCDS1586.1	1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.024188	0.75390	.	.	ENSG00000135773	ENST00000271971;ENST00000354537;ENST00000366666	D;D;D	0.94931	-3.56;-3.56;-3.56	5.13	3.97	0.46021	EF-hand-like domain (1);	0.086147	0.85682	D	0.000000	D	0.96309	0.8796	M	0.78456	2.415	0.49389	D	0.999783	D;D;D	0.65815	0.995;0.983;0.97	P;D;P	0.64144	0.884;0.922;0.838	D	0.95732	0.8775	10	0.66056	D	0.02	.	11.0151	0.47685	0.9244:0.0:0.0755:0.0	.	531;568;594	E7ESS6;O14815-2;O14815	.;.;CAN9_HUMAN	T	594;568;531	ENSP00000271971:K594T;ENSP00000346538:K568T;ENSP00000355626:K531T	ENSP00000271971:K594T	K	+	2	0	CAPN9	228994853	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.542000	0.67218	0.865000	0.35603	0.533000	0.62120	AAG	-	superfamily_EF-hand		0.522	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN9	protein_coding	OTTHUMT00000092179.1	A	NM_006615		228994853	+1	no_errors	NM_006615	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
