#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	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_name_source	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
AAK1	22848	genome.wustl.edu	37	2	69741754	69741756	+	In_Frame_Del	DEL	TGT	TGT	-	rs66931661|rs3832159|rs55712143	byFrequency	TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	TGT	TGT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr2:69741754_69741756delTGT	ENST00000409085.4	-	13	1999_2001	c.1623_1625delACA	c.(1621-1626)caacag>cag	p.541_542QQ>Q	AAK1_ENST00000409068.1_In_Frame_Del_p.541_542QQ>Q|AAK1_ENST00000406297.3_In_Frame_Del_p.541_542QQ>Q|RN7SL604P_ENST00000492589.2_RNA	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	541	Gln-rich.				endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						ttgctgttgctgttgttgttgct	0.547														1782	0.355831	0.1755	0.4755	5008	,	,		19080	0.5129		0.3897	False		,,,				2504	0.318																0										952,3280		126,700,1290						3.2	1.0		dbSNP_107	34	3317,4915		696,1925,1495	no	coding	AAK1	NM_014911.3		822,2625,2785	A1A1,A1R,RR		40.294,22.4953,34.2506				4269,8195				SO:0001651	inframe_deletion	22848			AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.1623_1625delACA	2.37:g.69741760_69741762delTGT	ENSP00000386456:p.Gln546del		Q4ZFZ3|Q53RX6|Q9UPV4	In_Frame_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Q545in_frame_del	ENST00000409085.4	37	c.1625_1623	CCDS1893.2	2																																																																																			AAK1	-	NULL		0.547	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AAK1	HGNC	protein_coding	OTTHUMT00000251847.4	TGT	NM_014911		69741756	-1	no_errors	ENST00000409085	ensembl	human	known	70_37	in_frame_del	DEL	0.998:0.997:0.988	-
ABCA12	26154	genome.wustl.edu	37	2	215823081	215823081	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr2:215823081G>A	ENST00000272895.7	-	41	6256	c.6037C>T	c.(6037-6039)Caa>Taa	p.Q2013*	AC072062.1_ENST00000420134.1_RNA|AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Nonsense_Mutation_p.Q1695*	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2013					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)	p.Q2013*(1)		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)		GCTTTGGTTTGATGTTCCCTT	0.428																																					Ovarian(66;664 1488 5121 34295)												1	Substitution - Nonsense(1)	cervix(1)											229.0	191.0	204.0					2																	215823081		2203	4300	6503	SO:0001587	stop_gained	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.6037C>T	2.37:g.215823081G>A	ENSP00000272895:p.Gln2013*		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Nonsense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.Q2013*	ENST00000272895.7	37	c.6037	CCDS33372.1	2	.	.	.	.	.	.	.	.	.	.	G	45	11.937369	0.99619	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	.	.	.	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	19.8176	0.96576	0.0:0.0:1.0:0.0	.	.	.	.	X	2013;1695	.	ENSP00000272895:Q2013X	Q	-	1	0	ABCA12	215531326	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.474000	0.73578	2.765000	0.95021	0.650000	0.86243	CAA	ABCA12	-	NULL		0.428	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	G	NM_173076		215823081	-1	no_errors	ENST00000272895	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ABCD2	225	genome.wustl.edu	37	12	40013237	40013237	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr12:40013237C>G	ENST00000308666.3	-	1	316	c.181G>C	c.(181-183)Gag>Cag	p.E61Q		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	61	Interaction with PEX19.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)	p.E61Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						TCTGTGTTCTCTGCAGCAGGG	0.463																																																	1	Substitution - Missense(1)	cervix(1)											146.0	146.0	146.0					12																	40013237		2203	4300	6503	SO:0001583	missense	225			U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"""ATP binding cassette transporters / subfamily D"""	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.181G>C	12.37:g.40013237C>G	ENSP00000310688:p.Glu61Gln		B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.E61Q	ENST00000308666.3	37	c.181	CCDS8734.1	12	.	.	.	.	.	.	.	.	.	.	C	8.966	0.971677	0.18736	.	.	ENSG00000173208	ENST00000308666	D	0.94417	-3.42	4.69	4.69	0.59074	.	0.913097	0.09577	N	0.783380	D	0.85522	0.5716	N	0.08118	0	0.09310	N	1	B	0.26744	0.158	B	0.21917	0.037	T	0.74674	-0.3586	9	.	.	.	-29.4118	6.63	0.22851	0.0:0.7236:0.1821:0.0943	.	61	Q9UBJ2	ABCD2_HUMAN	Q	61	ENSP00000310688:E61Q	.	E	-	1	0	ABCD2	38299504	0.001000	0.12720	0.998000	0.56505	0.911000	0.54048	0.242000	0.18087	2.436000	0.82500	0.655000	0.94253	GAG	ABCD2	-	NULL		0.463	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD2	HGNC	protein_coding	OTTHUMT00000403591.1	C	NM_005164		40013237	-1	no_errors	ENST00000308666	ensembl	human	known	70_37	missense	SNP	0.245	G
ACSM3	6296	genome.wustl.edu	37	16	20808370	20808370	+	3'UTR	SNP	G	G	A			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr16:20808370G>A	ENST00000289416.5	+	0	2312				ERI2_ENST00000300005.3_Intron|ACSM3_ENST00000450120.2_3'UTR|ERI2_ENST00000357967.4_3'UTR|ERI2_ENST00000569729.1_3'UTR|ERI2_ENST00000564349.1_3'UTR	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3						cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						AGATGATGGAGAGGTCATAAA	0.289																																																	0																																										SO:0001624	3_prime_UTR_variant	6296			D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"""Acyl-CoA synthetase family"""	10522	protein-coding gene	gene with protein product		145505	"""SA (rat hypertension-associated) homolog"", ""SA hypertension-associated homolog (rat)"""	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.*76G>A	16.37:g.20808370G>A			O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	RNA	SNP	-	NULL	ENST00000289416.5	37	NULL	CCDS10589.1	16																																																																																			ACSM3	-	-		0.289	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM3	HGNC	protein_coding	OTTHUMT00000254414.2	G	NM_005622		20808370	+1	no_errors	ENST00000567711	ensembl	human	known	70_37	rna	SNP	0.000	A
AHNAK2	113146	genome.wustl.edu	37	14	105404558	105404558	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr14:105404558C>G	ENST00000333244.5	-	7	17349	c.17230G>C	c.(17230-17232)Gag>Cag	p.E5744Q	AHNAK2_ENST00000557457.1_Missense_Mutation_p.E742Q	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5744						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.E5744Q(1)|p.E714Q(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCTTCCTTCTCTTCAGGGGAG	0.507																																																	2	Substitution - Missense(2)	cervix(2)											50.0	52.0	51.0					14																	105404558		1925	4126	6051	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.17230G>C	14.37:g.105404558C>G	ENSP00000353114:p.Glu5744Gln		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E5744Q	ENST00000333244.5	37	c.17230	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	C	21.6	4.167829	0.78339	.	.	ENSG00000185567	ENST00000557457;ENST00000333244	T;T	0.04862	3.55;3.54	5.05	5.05	0.67936	.	0.000000	0.43919	U	0.000511	T	0.17323	0.0416	L	0.43923	1.385	0.33750	D	0.620464	D	0.76494	0.999	D	0.69479	0.964	T	0.08106	-1.0738	10	0.33141	T	0.24	.	16.5941	0.84791	0.0:1.0:0.0:0.0	.	5744	Q8IVF2	AHNK2_HUMAN	Q	742;5744	ENSP00000450998:E742Q;ENSP00000353114:E5744Q	ENSP00000353114:E5744Q	E	-	1	0	AHNAK2	104475603	1.000000	0.71417	0.070000	0.20053	0.198000	0.23893	4.671000	0.61590	2.353000	0.79882	0.655000	0.94253	GAG	AHNAK2	-	NULL		0.507	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	C	NM_138420		105404558	-1	no_errors	ENST00000333244	ensembl	human	known	70_37	missense	SNP	0.968	G
AHNAK2	113146	genome.wustl.edu	37	14	105405820	105405820	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr14:105405820C>G	ENST00000333244.5	-	7	16087	c.15968G>C	c.(15967-15969)gGa>gCa	p.G5323A	AHNAK2_ENST00000557457.1_Missense_Mutation_p.G321A	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5323						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.G293A(1)|p.G5323A(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATCTATTTCTCCTGGAAGAAC	0.493																																																	2	Substitution - Missense(2)	cervix(2)											39.0	39.0	39.0					14																	105405820		1894	4112	6006	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.15968G>C	14.37:g.105405820C>G	ENSP00000353114:p.Gly5323Ala		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G5323A	ENST00000333244.5	37	c.15968	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	C	4.114	0.019378	0.08006	.	.	ENSG00000185567	ENST00000557457;ENST00000333244	T;T	0.02863	4.13;6.02	4.28	-2.23	0.06930	.	1.632970	0.04026	N	0.300653	T	0.01870	0.0059	L	0.27053	0.805	0.09310	N	1	B	0.17268	0.021	B	0.18871	0.023	T	0.42699	-0.9436	10	0.07175	T	0.84	-6.4549	1.0373	0.01551	0.1389:0.2841:0.2751:0.3019	.	5323	Q8IVF2	AHNK2_HUMAN	A	321;5323	ENSP00000450998:G321A;ENSP00000353114:G5323A	ENSP00000353114:G5323A	G	-	2	0	AHNAK2	104476865	0.000000	0.05858	0.003000	0.11579	0.019000	0.09904	-0.214000	0.09292	-0.279000	0.09167	0.313000	0.20887	GGA	AHNAK2	-	NULL		0.493	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	C	NM_138420		105405820	-1	no_errors	ENST00000333244	ensembl	human	known	70_37	missense	SNP	0.000	G
AHNAK2	113146	genome.wustl.edu	37	14	105406022	105406022	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr14:105406022C>T	ENST00000333244.5	-	7	15885	c.15766G>A	c.(15766-15768)Gaa>Aaa	p.E5256K	AHNAK2_ENST00000557457.1_Missense_Mutation_p.E254K	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5256						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.E226K(1)|p.E5256K(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCTGTCACTTCTGCATCTGCC	0.512																																																	2	Substitution - Missense(2)	cervix(2)											169.0	182.0	178.0					14																	105406022		2059	4217	6276	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.15766G>A	14.37:g.105406022C>T	ENSP00000353114:p.Glu5256Lys		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E5256K	ENST00000333244.5	37	c.15766	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	C	13.30	2.196990	0.38806	.	.	ENSG00000185567	ENST00000557457;ENST00000333244	T;T	0.03124	4.04;5.3	4.75	1.51	0.23008	.	1.278490	0.05894	U	0.628807	T	0.02083	0.0065	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.41998	-0.9477	10	0.06757	T	0.87	.	7.6745	0.28478	0.0:0.6001:0.3099:0.0899	.	5256	Q8IVF2	AHNK2_HUMAN	K	254;5256	ENSP00000450998:E254K;ENSP00000353114:E5256K	ENSP00000353114:E5256K	E	-	1	0	AHNAK2	104477067	0.000000	0.05858	0.000000	0.03702	0.179000	0.23085	0.140000	0.16056	0.486000	0.27676	0.561000	0.74099	GAA	AHNAK2	-	NULL		0.512	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	C	NM_138420		105406022	-1	no_errors	ENST00000333244	ensembl	human	known	70_37	missense	SNP	0.000	T
AKR1CL1	340811	genome.wustl.edu	37	10	5203836	5203836	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr10:5203836C>T	ENST00000334314.3	-	3	437	c.361G>A	c.(361-363)Gta>Ata	p.V121I	AKR1CL1_ENST00000465430.1_5'Flank			Q5T2L2	AKCL1_HUMAN	aldo-keto reductase family 1, member C-like 1	121						cytoplasm (GO:0005737)	oxidoreductase activity (GO:0016491)	p.V121I(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						GCAAATGGTACATGAATAATG	0.408																																					Ovarian(129;1623 1737 25446 28757 47467)												1	Substitution - Missense(1)	cervix(1)											79.0	80.0	79.0					10																	5203836		2203	4300	6503	SO:0001583	missense	340811					10p15.2	2014-05-06			ENSG00000196326	ENSG00000264006			23469	protein-coding gene	gene with protein product						15164054	Standard	NR_027916		Approved		uc009xhz.2	Q5T2L2	OTTHUMG00000184213	ENST00000334314.3:c.361G>A	10.37:g.5203836C>T	ENSP00000334626:p.Val121Ile		A6NF66|Q6ZN81	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.V121I	ENST00000334314.3	37	c.361		10	.	.	.	.	.	.	.	.	.	.	C	10.43	1.347759	0.24426	.	.	ENSG00000196326	ENST00000488756;ENST00000334314	T;T	0.50001	0.76;0.76	2.99	-5.97	0.02227	.	2.306050	0.02877	N	0.132385	T	0.30823	0.0777	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.16424	-1.0403	7	0.46703	T	0.11	.	0.8526	0.01175	0.2111:0.3461:0.1279:0.3149	.	.	.	.	I	121	ENSP00000417935:V121I;ENSP00000334626:V121I	ENSP00000334626:V121I	V	-	1	0	AKR1CL1	5193836	0.000000	0.05858	0.000000	0.03702	0.433000	0.31745	-2.010000	0.01454	-0.980000	0.03524	0.313000	0.20887	GTA	AKR1CL1	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr		0.408	AKR1CL1-201	KNOWN	basic|appris_candidate_longest	protein_coding	AKR1CL1	HGNC	protein_coding		C	NR_027916		5203836	-1	no_errors	ENST00000334314	ensembl	human	known	70_37	missense	SNP	0.000	T
ALDH4A1	8659	genome.wustl.edu	37	1	19204081	19204081	+	Silent	SNP	G	G	A	rs150927009		TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr1:19204081G>A	ENST00000375341.3	-	10	1223	c.966C>T	c.(964-966)ttC>ttT	p.F322F	ALDH4A1_ENST00000538309.1_Silent_p.F262F|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000290597.5_Silent_p.F322F|ALDH4A1_ENST00000538839.1_Silent_p.F322F	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	322					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802)	p.F322F(4)		cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGCGGTGCACGAAGTGGAAGT	0.657																																																	4	Substitution - coding silent(4)	cervix(2)|lung(2)											23.0	23.0	23.0					1																	19204081		2203	4300	6503	SO:0001819	synonymous_variant	8659			U24266	CCDS188.1, CCDS53272.1	1p36	2008-02-05			ENSG00000159423	ENSG00000159423	1.5.1.12	"""Aldehyde dehydrogenases"""	406	protein-coding gene	gene with protein product		606811		ALDH4		8621661	Standard	NM_003748		Approved	P5CDh	uc001bbc.3	P30038	OTTHUMG00000002443	ENST00000375341.3:c.966C>T	1.37:g.19204081G>A			A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Silent	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH	p.F322	ENST00000375341.3	37	c.966	CCDS188.1	1																																																																																			ALDH4A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH		0.657	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH4A1	HGNC	protein_coding	OTTHUMT00000006954.1	G			19204081	-1	no_errors	ENST00000290597	ensembl	human	known	70_37	silent	SNP	0.003	A
ALS2CL	259173	genome.wustl.edu	37	3	46717778	46717778	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr3:46717778C>G	ENST00000318962.4	-	19	2226	c.2143G>C	c.(2143-2145)Gag>Cag	p.E715Q	ALS2CL_ENST00000383742.3_Missense_Mutation_p.E62Q|ALS2CL_ENST00000415953.1_Missense_Mutation_p.E715Q	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	715					endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E715Q(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		TTCACCTCCTCCTGGGCCAGC	0.627																																																	1	Substitution - Missense(1)	cervix(1)											72.0	65.0	67.0					3																	46717778		2203	4300	6503	SO:0001583	missense	259173			AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.2143G>C	3.37:g.46717778C>G	ENSP00000313670:p.Glu715Gln		Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Missense_Mutation	SNP	pfam_MORN,pfam_VPS9,superfamily_DH-domain,smart_MORN,pfscan_VPS9	p.E715Q	ENST00000318962.4	37	c.2143	CCDS2743.1	3	.	.	.	.	.	.	.	.	.	.	C	14.29	2.490883	0.44249	.	.	ENSG00000178038	ENST00000318962;ENST00000415953;ENST00000383742	T;T;T	0.34859	1.34;1.34;1.34	4.85	3.97	0.46021	.	0.089177	0.46758	D	0.000279	T	0.38214	0.1032	M	0.64997	1.995	0.35361	D	0.788216	D	0.54047	0.964	P	0.46629	0.522	T	0.50180	-0.8858	10	0.22109	T	0.4	.	11.2636	0.49097	0.0:0.9103:0.0:0.0897	.	715	Q60I27	AL2CL_HUMAN	Q	715;715;62	ENSP00000313670:E715Q;ENSP00000413223:E715Q;ENSP00000373248:E62Q	ENSP00000313670:E715Q	E	-	1	0	ALS2CL	46692782	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.439000	0.52878	1.272000	0.44329	0.561000	0.74099	GAG	ALS2CL	-	NULL		0.627	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALS2CL	HGNC	protein_coding	OTTHUMT00000250567.3	C	NM_147129		46717778	-1	no_errors	ENST00000318962	ensembl	human	known	70_37	missense	SNP	1.000	G
AMOT	154796	genome.wustl.edu	37	X	112058755	112058755	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chrX:112058755G>C	ENST00000524145.1	-	3	1297	c.1223C>G	c.(1222-1224)tCa>tGa	p.S408*	AMOT_ENST00000371959.3_Nonsense_Mutation_p.S408*|AMOT_ENST00000371962.1_Nonsense_Mutation_p.S176*|AMOT_ENST00000371958.1_Nonsense_Mutation_p.S176*|AMOT_ENST00000304758.1_5'UTR			Q4VCS5	AMOT_HUMAN	angiomotin	408					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)	p.S408*(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						AGGCATAGCTGAATAGGCTTC	0.562																																																	1	Substitution - Nonsense(1)	cervix(1)											72.0	64.0	67.0					X																	112058755		2203	4300	6503	SO:0001587	stop_gained	154796			AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1223C>G	X.37:g.112058755G>C	ENSP00000429013:p.Ser408*		Q504X5|Q9HD27|Q9UPT1	Nonsense_Mutation	SNP	pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin	p.S408*	ENST00000524145.1	37	c.1223	CCDS48154.1	X	.	.	.	.	.	.	.	.	.	.	G	38	6.732343	0.97796	.	.	ENSG00000126016	ENST00000371959;ENST00000371962;ENST00000524145;ENST00000371958	.	.	.	5.45	5.45	0.79879	.	0.578499	0.18039	N	0.153694	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-4.5832	15.3085	0.74011	0.0:0.0:1.0:0.0	.	.	.	.	X	408;176;408;176	.	ENSP00000361026:S176X	S	-	2	0	AMOT	111945411	0.987000	0.35691	1.000000	0.80357	0.994000	0.84299	4.762000	0.62250	2.527000	0.85204	0.600000	0.82982	TCA	AMOT	-	NULL		0.562	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMOT	HGNC	protein_coding	OTTHUMT00000378570.1	G	NM_133265		112058755	-1	no_errors	ENST00000371959	ensembl	human	known	70_37	nonsense	SNP	1.000	C
ANGPT4	51378	genome.wustl.edu	37	20	865825	865825	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr20:865825A>G	ENST00000381922.3	-	4	833	c.731T>C	c.(730-732)gTc>gCc	p.V244A	ANGPT4_ENST00000546022.1_Missense_Mutation_p.V244A	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	244					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.V244A(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GTTGTGCCTGACACCGCGCAG	0.662																																					Pancreas(181;481 2077 3259 31286 49856)												1	Substitution - Missense(1)	cervix(1)											24.0	22.0	22.0					20																	865825		2200	4296	6496	SO:0001583	missense	51378			AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"""Fibrinogen C domain containing"""	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.731T>C	20.37:g.865825A>G	ENSP00000371347:p.Val244Ala		B4E3J9|Q5TFF4|Q9H4Z4	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.V244A	ENST00000381922.3	37	c.731	CCDS13009.1	20	.	.	.	.	.	.	.	.	.	.	A	0.023	-1.397254	0.01175	.	.	ENSG00000101280	ENST00000381922;ENST00000546022	T;T	0.13538	2.58;2.58	4.7	2.59	0.31030	.	0.573360	0.16193	N	0.225282	T	0.03011	0.0089	N	0.00729	-1.24	0.23862	N	0.996635	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.43925	-0.9361	10	0.08381	T	0.77	.	5.9309	0.19138	0.2941:0.0:0.7059:0.0	.	244;244	B4E3J9;Q9Y264	.;ANGP4_HUMAN	A	244	ENSP00000371347:V244A;ENSP00000439605:V244A	ENSP00000371347:V244A	V	-	2	0	ANGPT4	813825	1.000000	0.71417	0.747000	0.31113	0.026000	0.11368	3.785000	0.55424	0.442000	0.26555	-0.475000	0.04921	GTC	ANGPT4	-	NULL		0.662	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPT4	HGNC	protein_coding	OTTHUMT00000077493.1	A	NM_015985		865825	-1	no_errors	ENST00000381922	ensembl	human	known	70_37	missense	SNP	0.982	G
APC	324	genome.wustl.edu	37	5	112175921	112175921	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr5:112175921G>C	ENST00000457016.1	+	16	5010	c.4630G>C	c.(4630-4632)Gaa>Caa	p.E1544Q	APC_ENST00000257430.4_Missense_Mutation_p.E1544Q|APC_ENST00000508376.2_Missense_Mutation_p.E1544Q|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1544	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.E1544*(1)|p.E1544Q(1)|p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GCAGCCTAAAGAATCAAATGA	0.348		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	4	Substitution - Nonsense(1)|Unknown(1)|Substitution - Missense(1)|Deletion - Frameshift(1)	cervix(1)|large_intestine(1)|soft_tissue(1)|skin(1)											77.0	83.0	81.0					5																	112175921		2202	4300	6502	SO:0001583	missense	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4630G>C	5.37:g.112175921G>C	ENSP00000413133:p.Glu1544Gln		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.E1544Q	ENST00000457016.1	37	c.4630	CCDS4107.1	5	.	.	.	.	.	.	.	.	.	.	G	10.56	1.384364	0.25031	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.90069	-2.61;-2.61;-2.61	6.16	5.28	0.74379	.	0.202136	0.51477	N	0.000084	D	0.87581	0.6213	M	0.61703	1.905	0.48395	D	0.999646	B;B	0.16166	0.016;0.016	B;B	0.12156	0.007;0.007	D	0.83385	0.0014	9	.	.	.	-14.6066	17.4892	0.87698	0.0:0.124:0.876:0.0	.	1546;1544	Q4LE70;P25054	.;APC_HUMAN	Q	1544	ENSP00000413133:E1544Q;ENSP00000257430:E1544Q;ENSP00000427089:E1544Q	.	E	+	1	0	APC	112203820	1.000000	0.71417	1.000000	0.80357	0.538000	0.34931	4.511000	0.60462	1.574000	0.49760	0.650000	0.86243	GAA	APC	-	NULL		0.348	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2	G	NM_000038		112175921	+1	no_errors	ENST00000257430	ensembl	human	known	70_37	missense	SNP	1.000	C
AQP12B	653437	genome.wustl.edu	37	2	241622114	241622114	+	Silent	SNP	G	G	A			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr2:241622114G>A	ENST00000407834.3	-	1	203	c.141C>T	c.(139-141)ctC>ctT	p.L47L		NM_001102467.1	NP_001095937.1	A6NM10	AQ12B_HUMAN	aquaporin 12B	41						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.L47L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		AGCAGGCCCCGAGCTGCACCG	0.692																																																	1	Substitution - coding silent(1)	cervix(1)											46.0	50.0	49.0					2																	241622114		2203	4299	6502	SO:0001819	synonymous_variant	653437			BC041460	CCDS46560.1	2q37.3	2007-12-14	2005-05-26	2005-05-26	ENSG00000185176	ENSG00000185176		"""Ion channels / Aquaporins"""	6096	protein-coding gene	gene with protein product			"""insulin synthesis associated 3"""	INSSA3			Standard	NM_001102467		Approved		uc010fzj.3	A6NM10	OTTHUMG00000152263	ENST00000407834.3:c.141C>T	2.37:g.241622114G>A			A4QPB9	Silent	SNP	pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_12,prints_MIP	p.L47	ENST00000407834.3	37	c.141	CCDS46560.1	2																																																																																			AQP12B	-	superfamily_Aquaporin-like,pirsf_Aquaporin_11/12		0.692	AQP12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP12B	HGNC	protein_coding	OTTHUMT00000325625.1	G			241622114	-1	no_errors	ENST00000407834	ensembl	human	known	70_37	silent	SNP	0.903	A
ARHGAP31	57514	genome.wustl.edu	37	3	119134599	119134599	+	Missense_Mutation	SNP	G	G	T	rs372342110		TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr3:119134599G>T	ENST00000264245.4	+	12	4355	c.3823G>T	c.(3823-3825)Gtg>Ttg	p.V1275L		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1275					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)	p.V1275L(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GTCCTCACCAGTGGATGCCAC	0.537																																					Pancreas(7;176 297 5394 51128 51241)												1	Substitution - Missense(1)	cervix(1)											47.0	51.0	50.0					3																	119134599		2000	4174	6174	SO:0001583	missense	57514				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.3823G>T	3.37:g.119134599G>T	ENSP00000264245:p.Val1275Leu		Q9ULL6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.V1275L	ENST00000264245.4	37	c.3823	CCDS43135.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.171|0.171	-1.071915|-1.071915	0.01918|0.01918	.|.	.|.	ENSG00000031081|ENSG00000031081	ENST00000543280|ENST00000264245	.|T	.|0.05649	.|3.41	5.87|5.87	-11.7|-11.7	0.00046|0.00046	.|.	.|1.999180	.|0.02096	.|N	.|0.053536	T|T	0.02418|0.02418	0.0074|0.0074	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.30268|0.30268	-0.9984|-0.9984	6|10	0.87932|0.24483	D|T	0|0.36	.|.	8.1907|8.1907	0.31366|0.31366	0.6216:0.2219:0.0824:0.074|0.6216:0.2219:0.0824:0.074	.|.	.|1275	.|Q2M1Z3	.|RHG31_HUMAN	H|L	1070|1275	.|ENSP00000264245:V1275L	ENSP00000442361:Q1070H|ENSP00000264245:V1275L	Q|V	+|+	3|1	2|0	ARHGAP31|ARHGAP31	120617289|120617289	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.014000|0.014000	0.08584|0.08584	-1.200000|-1.200000	0.03029|0.03029	-3.368000|-3.368000	0.00177|0.00177	-0.793000|-0.793000	0.03317|0.03317	CAG|GTG	ARHGAP31	-	NULL		0.537	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP31	HGNC	protein_coding	OTTHUMT00000354942.2	G			119134599	+1	no_errors	ENST00000264245	ensembl	human	known	70_37	missense	SNP	0.000	T
ASS1	445	genome.wustl.edu	37	9	133370371	133370371	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr9:133370371G>A	ENST00000372394.1	+	14	1569	c.1088G>A	c.(1087-1089)cGg>cAg	p.R363Q	ASS1_ENST00000372393.3_Missense_Mutation_p.R363Q|ASS1_ENST00000352480.5_Missense_Mutation_p.R363Q			P00966	ASSY_HUMAN	argininosuccinate synthase 1	363			R -> G (in CTLN1). {ECO:0000269|PubMed:16475226}.|R -> L (in CTLN1). {ECO:0000269|PubMed:7977368}.|R -> Q (in CTLN1). {ECO:0000269|PubMed:12815590}.|R -> W (in CTLN1). {ECO:0000269|PubMed:12815590, ECO:0000269|PubMed:2358466}.		acute-phase response (GO:0006953)|aging (GO:0007568)|arginine biosynthetic process (GO:0006526)|argininosuccinate metabolic process (GO:0000053)|aspartate metabolic process (GO:0006531)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to amine stimulus (GO:0071418)|cellular response to amino acid stimulus (GO:0071230)|cellular response to ammonium ion (GO:0071242)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to interferon-gamma (GO:0071346)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to oleic acid (GO:0071400)|cellular response to tumor necrosis factor (GO:0071356)|citrulline metabolic process (GO:0000052)|diaphragm development (GO:0060539)|kidney development (GO:0001822)|liver development (GO:0001889)|midgut development (GO:0007494)|negative regulation of leukocyte cell-cell adhesion (GO:1903038)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to mycotoxin (GO:0010046)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|perikaryon (GO:0043204)	amino acid binding (GO:0016597)|argininosuccinate synthase activity (GO:0004055)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|toxic substance binding (GO:0015643)	p.R363Q(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	ATCCTCGGCCGGGAGTCCCCA	0.582																																																	1	Substitution - Missense(1)	cervix(1)	GRCh37	CM031630|CM940129	ASS1	M							61.0	56.0	58.0					9																	133370371		2203	4300	6503	SO:0001583	missense	445			X01630	CCDS6933.1	9q34.1	2012-10-02	2010-04-20	2006-08-24	ENSG00000130707	ENSG00000130707	6.3.4.5		758	protein-coding gene	gene with protein product		603470	"""argininosuccinate synthetase"""	ASS		3513483, 852520	Standard	NM_054012		Approved	CTLN1	uc004bzm.3	P00966	OTTHUMG00000020806	ENST00000372394.1:c.1088G>A	9.37:g.133370371G>A	ENSP00000361471:p.Arg363Gln		Q6LDL2|Q86UZ0|Q96GT4	Missense_Mutation	SNP	pfam_Arginosuc_synth,pfam_QueC,tigrfam_Arginosuc_synth	p.R363Q	ENST00000372394.1	37	c.1088	CCDS6933.1	9	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298984	0.81025	.	.	ENSG00000130707	ENST00000334909;ENST00000352480;ENST00000372394;ENST00000372393;ENST00000372386	D;D;D;D	0.99466	-5.95;-5.95;-5.95;-5.95	4.64	4.64	0.57946	Argininosuccinate synthetase, catalytic/multimerisation domain body (1);	0.000000	0.64402	U	0.000003	D	0.99214	0.9727	M	0.92923	3.36	0.80722	D	1	P;D;D;P;P	0.65815	0.91;0.995;0.995;0.91;0.91	B;P;P;B;B	0.44732	0.204;0.459;0.459;0.204;0.204	D	0.99509	1.0955	10	0.87932	D	0	.	16.1121	0.81271	0.0:0.0:1.0:0.0	.	363;246;246;363;363	A8KAP9;B4E395;E9PDT0;Q5T6L4;P00966	.;.;.;.;ASSY_HUMAN	Q	363;363;363;363;120	ENSP00000253004:R363Q;ENSP00000361471:R363Q;ENSP00000361469:R363Q;ENSP00000361461:R120Q	ENSP00000361470:R363Q	R	+	2	0	ASS1	132360192	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.172000	0.94808	2.129000	0.65627	0.549000	0.68633	CGG	ASS1	-	pfam_Arginosuc_synth,tigrfam_Arginosuc_synth		0.582	ASS1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ASS1	HGNC	protein_coding	OTTHUMT00000054652.1	G	NM_000050		133370371	+1	no_errors	ENST00000334909	ensembl	human	known	70_37	missense	SNP	1.000	A
ATG12	9140	genome.wustl.edu	37	5	115167552	115167552	+	Silent	SNP	G	G	A			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr5:115167552G>A	ENST00000509910.1	-	4	677	c.372C>T	c.(370-372)ggC>ggT	p.G124G	ATG12_ENST00000500945.2_3'UTR|ATG12_ENST00000509598.1_5'UTR|ATG12_ENST00000274459.4_Silent_p.G171G			O94817	ATG12_HUMAN	autophagy related 12	124					autophagic vacuole assembly (GO:0000045)|C-terminal protein lipidation (GO:0006501)|cellular response to nitrogen starvation (GO:0006995)|innate immune response (GO:0045087)|mitochondrion degradation (GO:0000422)|negative regulation of type I interferon production (GO:0032480)|nucleophagy (GO:0044804)	Atg12-Atg5-Atg16 complex (GO:0034274)|pre-autophagosomal structure membrane (GO:0034045)	Atg8 ligase activity (GO:0019776)			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)		TACCATCACTGCCAAAACACT	0.333																																																	0													47.0	41.0	43.0					5																	115167552		2202	4300	6502	SO:0001819	synonymous_variant	9140			AB017507	CCDS4122.1, CCDS4122.2, CCDS64222.1	5q21-q22	2014-02-12	2012-06-06	2005-09-11	ENSG00000145782	ENSG00000145782			588	protein-coding gene	gene with protein product	"""APG12 autophagy 12-like"""	609608	"""Apg12 (autophagy 12, S. cerevisiae)-like"", ""APG12 autophagy 12-like (S. cerevisiae)"", ""ATG12 autophagy related 12 homolog (S. cerevisiae)"""	APG12L		9852036	Standard	NM_004707		Approved	APG12	uc003krh.3	O94817	OTTHUMG00000128889	ENST00000509910.1:c.372C>T	5.37:g.115167552G>A			Q6PJV2	Silent	SNP	pfam_Autophagy-rel_prot_12,pfam_Atg8_ubiquitin-like	p.G171	ENST00000509910.1	37	c.513	CCDS4122.2	5																																																																																			ATG12	-	pfam_Autophagy-rel_prot_12,pfam_Atg8_ubiquitin-like		0.333	ATG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG12	HGNC	protein_coding	OTTHUMT00000250851.3	G	NM_004707		115167552	-1	no_errors	ENST00000274459	ensembl	human	known	70_37	silent	SNP	1.000	A
ATP6V1E2	90423	genome.wustl.edu	37	2	46739842	46739842	+	Silent	SNP	C	C	G			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr2:46739842C>G	ENST00000306448.4	-	2	1122	c.9G>C	c.(7-9)ctG>ctC	p.L3L	ATP6V1E2_ENST00000522587.1_Silent_p.L3L	NM_080653.3	NP_542384.1	Q96A05	VATE2_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2	3					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|proton-transporting two-sector ATPase complex, catalytic domain (GO:0033178)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)	p.L3L(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			CGACATCACTCAGGGCCATGG	0.507																																																	1	Substitution - coding silent(1)	cervix(1)											53.0	48.0	49.0					2																	46739842		2203	4300	6503	SO:0001819	synonymous_variant	90423			BC008981	CCDS1826.1	2p21	2011-02-10	2006-01-13	2002-06-21	ENSG00000250565	ENSG00000250565		"""ATPases / V-type"""	18125	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 31kD-like 2"", ""ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E isoform 2"""	ATP6EL2, ATP6V1EL2		12036578	Standard	NM_080653		Approved	MGC9341, VMA4, ATP6E1	uc002ruy.3	Q96A05	OTTHUMG00000128819	ENST00000306448.4:c.9G>C	2.37:g.46739842C>G				Silent	SNP	pfam_ATPase_V1/A1-cplx_esu	p.L3	ENST00000306448.4	37	c.9	CCDS1826.1	2																																																																																			ATP6V1E2	-	NULL		0.507	ATP6V1E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1E2	HGNC	protein_coding	OTTHUMT00000250753.1	C	NM_080653		46739842	-1	no_errors	ENST00000306448	ensembl	human	known	70_37	silent	SNP	0.998	G
BARHL2	343472	genome.wustl.edu	37	1	91182267	91182268	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr1:91182267_91182268GG>AA	ENST00000370445.4	-	1	526_527	c.485_486CC>TT	c.(484-486)aCC>aTT	p.T162I		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	162					cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)	p.T162I(1)|p.T162T(1)		cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		AGGATACGCTGGTGCTGTAGGG	0.594																																					GBM(199;3561 4100 22440)												2	Substitution - Missense(1)|Substitution - coding silent(1)	cervix(2)																																								SO:0001583	missense	343472			AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"""Homeoboxes / ANTP class : NKL subclass"""	954	protein-coding gene	gene with protein product		605212	"""BarH (Drosophila)-like 2"""				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.485_486delinsAA	1.37:g.91182267_91182268delinsAA	ENSP00000359474:p.Thr162Ile		A0AVP2|Q7Z4N7	Silent|Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.T162|p.T162I	ENST00000370445.4	37	c.486|c.485	CCDS730.1	1																																																																																			BARHL2	-	NULL		0.594	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BARHL2	HGNC	protein_coding	OTTHUMT00000027728.2	G			91182267|91182268	-1	no_errors	ENST00000370445	ensembl	human	known	70_37	silent|missense	SNP	1.000	A
AVPR1B	553	genome.wustl.edu	37	1	206230995	206230995	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr1:206230995C>G	ENST00000367126.4	+	2	1593	c.1128C>G	c.(1126-1128)caC>caG	p.H376Q		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	376					activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)	p.H376Q(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	CGAGCCGCCACACCACGCTGC	0.706																																																	1	Substitution - Missense(1)	cervix(1)											15.0	18.0	17.0					1																	206230995		2201	4293	6494	SO:0001583	missense	553			D31833	CCDS73015.1	1q32	2014-05-06			ENSG00000198049	ENSG00000198049		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	896	protein-coding gene	gene with protein product		600264		AVPR3		7929452, 8586456	Standard	NM_000707		Approved		uc001hds.2	P47901	OTTHUMG00000184377	ENST00000367126.4:c.1128C>G	1.37:g.206230995C>G	ENSP00000356094:p.His376Gln		B0M0J6|Q5TZ00	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Vprs_rcpt_V1B,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn,prints_Vprs_V1A_rcpt	p.H376Q	ENST00000367126.4	37	c.1128	CCDS30994.1	1	.	.	.	.	.	.	.	.	.	.	C	7.500	0.652517	0.14580	.	.	ENSG00000198049	ENST00000367126	T	0.62498	0.02	5.69	2.75	0.32379	.	2.833740	0.00789	N	0.001323	T	0.45657	0.1353	N	0.22421	0.69	0.23304	N	0.99794	B	0.25521	0.128	B	0.16722	0.016	T	0.28713	-1.0035	10	0.24483	T	0.36	-8.4513	2.2896	0.04135	0.1236:0.4746:0.2217:0.18	.	376	P47901	V1BR_HUMAN	Q	376	ENSP00000356094:H376Q	ENSP00000356094:H376Q	H	+	3	2	AVPR1B	204397618	0.008000	0.16893	0.981000	0.43875	0.618000	0.37518	-0.330000	0.07925	0.772000	0.33382	-0.244000	0.11960	CAC	AVPR1B	-	prints_Vprs_rcpt_V1B		0.706	AVPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AVPR1B	HGNC	protein_coding	OTTHUMT00000087996.1	C	NM_000707		206230995	+1	no_errors	ENST00000367126	ensembl	human	known	70_37	missense	SNP	0.750	G
TMEM259	91304	genome.wustl.edu	37	19	1013310	1013310	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr19:1013310G>C	ENST00000356663.3	-	3	658	c.537C>G	c.(535-537)ttC>ttG	p.F179L	TMEM259_ENST00000333175.5_Missense_Mutation_p.F179L	NM_001033026.1	NP_001028198.1	Q4ZIN3	MBRL_HUMAN	transmembrane protein 259	179						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.F179L(1)									TCGGCGGCTTGAACACCTTGG	0.637																																																	1	Substitution - Missense(1)	cervix(1)											124.0	102.0	110.0					19																	1013310		2202	4300	6502	SO:0001583	missense	91304			BC008957	CCDS12052.1, CCDS32862.1	19p13.3	2013-02-06	2013-02-06	2013-02-06	ENSG00000182087	ENSG00000182087			17039	protein-coding gene	gene with protein product	"""membralin"", ""aspecific BCL2 ARE-binding protein 1"""	611011	"""chromosome 19 open reading frame 6"""	C19orf6		12638133, 16084606	Standard	XM_005259675		Approved	MGC4022, ASBABP1, MBRL	uc002lqr.1	Q4ZIN3		ENST00000356663.3:c.537C>G	19.37:g.1013310G>C	ENSP00000349087:p.Phe179Leu		O60392|Q8NF79|Q96H30	Missense_Mutation	SNP	pfam_Membralin	p.F179L	ENST00000356663.3	37	c.537	CCDS32862.1	19	.	.	.	.	.	.	.	.	.	.	G	10.41	1.343350	0.24339	.	.	ENSG00000182087	ENST00000356663;ENST00000333175	.	.	.	4.1	1.93	0.25924	.	0.270298	0.36972	N	0.002316	T	0.34687	0.0906	L	0.32530	0.975	0.34141	D	0.666444	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.31833	-0.9929	9	0.16420	T	0.52	.	7.8058	0.29202	0.0932:0.176:0.7308:0.0	.	179;179	Q4ZIN3-2;Q4ZIN3	.;MBRL_HUMAN	L	179	.	ENSP00000331423:F179L	F	-	3	2	C19orf6	964310	1.000000	0.71417	0.991000	0.47740	0.780000	0.44128	1.333000	0.33816	0.377000	0.24735	0.561000	0.74099	TTC	C19orf6	-	pfam_Membralin		0.637	TMEM259-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C19orf6	HGNC	protein_coding	OTTHUMT00000458236.1	G	NM_033420		1013310	-1	no_errors	ENST00000356663	ensembl	human	known	70_37	missense	SNP	1.000	C
C22orf31	25770	genome.wustl.edu	37	22	29456463	29456463	+	Silent	SNP	G	G	A	rs552864793		TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr22:29456463G>A	ENST00000216071.4	-	2	423	c.372C>T	c.(370-372)ttC>ttT	p.F124F		NM_015370.1	NP_056185.1	O95567	CV031_HUMAN	chromosome 22 open reading frame 31	124								p.F124F(1)		cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						TGGAACTGATGAAGTTTCTTT	0.522																																																	1	Substitution - coding silent(1)	cervix(1)											127.0	115.0	119.0					22																	29456463		2203	4300	6503	SO:0001819	synonymous_variant	25770			AL035364	CCDS13848.1	22q12.1	2006-07-05			ENSG00000100249	ENSG00000100249			26931	protein-coding gene	gene with protein product						15461802	Standard	XM_005261490		Approved	HS747E2A, bK747E2.1	uc003aej.1	O95567	OTTHUMG00000151011	ENST00000216071.4:c.372C>T	22.37:g.29456463G>A			A0AV97	Silent	SNP	NULL	p.F124	ENST00000216071.4	37	c.372	CCDS13848.1	22																																																																																			C22orf31	-	NULL		0.522	C22orf31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C22orf31	HGNC	protein_coding	OTTHUMT00000320952.1	G	NM_015370		29456463	-1	no_errors	ENST00000216071	ensembl	human	known	70_37	silent	SNP	0.012	A
CA14	23632	genome.wustl.edu	37	1	150237017	150237017	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr1:150237017G>C	ENST00000369111.4	+	11	1942	c.972G>C	c.(970-972)aaG>aaC	p.K324N	APH1A_ENST00000461320.1_5'Flank|snoU13_ENST00000458929.1_RNA	NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV	324					bicarbonate transport (GO:0015701)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|metal ion binding (GO:0046872)	p.K324N(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)		Acetazolamide(DB00819)|Zonisamide(DB00909)	AAAACCGAAAGAGTGTGGTCT	0.463																																																	1	Substitution - Missense(1)	cervix(1)											96.0	75.0	82.0					1																	150237017		2203	4300	6503	SO:0001583	missense	23632			AB025904	CCDS947.1	1q21	2008-02-05			ENSG00000118298	ENSG00000118298		"""Carbonic anhydrases"""	1372	protein-coding gene	gene with protein product		604832				10512682	Standard	XM_005245059		Approved		uc001etx.3	Q9ULX7	OTTHUMG00000012549	ENST00000369111.4:c.972G>C	1.37:g.150237017G>C	ENSP00000358107:p.Lys324Asn		Q5TB24|Q8NCF4	Missense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.K324N	ENST00000369111.4	37	c.972	CCDS947.1	1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.724153	0.68959	.	.	ENSG00000118298	ENST00000369111	T	0.69435	-0.4	5.67	-0.245	0.13027	.	0.095628	0.53938	D	0.000049	T	0.52645	0.1747	N	0.24115	0.695	0.32905	D	0.513689	D	0.71674	0.998	D	0.78314	0.991	T	0.57225	-0.7848	10	0.56958	D	0.05	.	8.9271	0.35648	0.4348:0.0:0.5652:0.0	.	324	Q9ULX7	CAH14_HUMAN	N	324	ENSP00000358107:K324N	ENSP00000358107:K324N	K	+	3	2	CA14	148503641	0.993000	0.37304	0.881000	0.34555	0.914000	0.54420	-0.047000	0.11963	-0.327000	0.08551	0.643000	0.83706	AAG	CA14	-	NULL		0.463	CA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA14	HGNC	protein_coding	OTTHUMT00000035064.2	G	NM_012113		150237017	+1	no_errors	ENST00000369111	ensembl	human	known	70_37	missense	SNP	0.980	C
CA2	760	genome.wustl.edu	37	8	86377680	86377680	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr8:86377680G>A	ENST00000285379.5	+	2	444	c.214G>A	c.(214-216)Gac>Aac	p.D72N	RP11-317J10.2_ENST00000521761.1_RNA|RP11-317J10.2_ENST00000517697.1_RNA|RP11-317J10.2_ENST00000524052.1_RNA	NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	72					angiotensin-activated signaling pathway (GO:0038166)|bicarbonate transport (GO:0015701)|kidney development (GO:0001822)|morphogenesis of an epithelium (GO:0002009)|odontogenesis of dentin-containing tooth (GO:0042475)|one-carbon metabolic process (GO:0006730)|positive regulation of bone resorption (GO:0045780)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of dipeptide transmembrane transport (GO:2001150)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of anion transport (GO:0044070)|regulation of chloride transport (GO:2001225)|regulation of intracellular pH (GO:0051453)|response to estrogen (GO:0043627)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.D72N(1)		central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Furosemide(DB00695)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	GGAGTTTGATGACTCTCAGGA	0.463																																																	1	Substitution - Missense(1)	cervix(1)											88.0	72.0	78.0					8																	86377680		2203	4300	6503	SO:0001583	missense	760			J03037	CCDS6239.1	8q21.2	2012-10-02			ENSG00000104267	ENSG00000104267	4.2.1.1	"""Carbonic anhydrases"""	1373	protein-coding gene	gene with protein product		611492				3107918	Standard	NM_000067		Approved	Car2, CA-II, CAII	uc003ydk.2	P00918	OTTHUMG00000164944	ENST00000285379.5:c.214G>A	8.37:g.86377680G>A	ENSP00000285379:p.Asp72Asn		B2R7G8|Q6FI12|Q96ET9	Missense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.D72N	ENST00000285379.5	37	c.214	CCDS6239.1	8	.	.	.	.	.	.	.	.	.	.	G	31	5.081020	0.94050	.	.	ENSG00000104267	ENST00000285379	T	0.70045	-0.45	5.45	5.45	0.79879	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.042909	0.85682	D	0.000000	T	0.67692	0.2920	M	0.69463	2.115	0.80722	D	1	B	0.16396	0.017	B	0.16289	0.015	T	0.66312	-0.5955	10	0.72032	D	0.01	-5.6275	17.8741	0.88819	0.0:0.0:1.0:0.0	.	72	P00918	CAH2_HUMAN	N	72	ENSP00000285379:D72N	ENSP00000285379:D72N	D	+	1	0	CA2	86564932	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.611000	0.82962	2.563000	0.86464	0.650000	0.86243	GAC	CA2	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a		0.463	CA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA2	HGNC	protein_coding	OTTHUMT00000381097.2	G	NM_000067		86377680	+1	no_errors	ENST00000285379	ensembl	human	known	70_37	missense	SNP	1.000	A
CAMSAP3	57662	genome.wustl.edu	37	19	7676636	7676636	+	Silent	SNP	C	C	T			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr19:7676636C>T	ENST00000160298.4	+	11	1358	c.1257C>T	c.(1255-1257)gtC>gtT	p.V419V	CAMSAP3_ENST00000446248.2_Silent_p.V446V	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	419					epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)	p.V446V(2)|p.V419V(1)		cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						ACGTGGATGTCGTCATGGGAG	0.726																																																	3	Substitution - coding silent(3)	cervix(3)											15.0	18.0	17.0					19																	7676636		2037	4163	6200	SO:0001819	synonymous_variant	57662			AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 80"""	612685	"""KIAA1543"""	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.1257C>T	19.37:g.7676636C>T			Q8NDF1	Silent	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.V446	ENST00000160298.4	37	c.1338	CCDS42489.1	19																																																																																			CAMSAP3	-	NULL		0.726	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CAMSAP3	HGNC	protein_coding	OTTHUMT00000459300.1	C	XM_048362		7676636	+1	no_errors	ENST00000446248	ensembl	human	known	70_37	silent	SNP	0.993	T
CAPN12	147968	genome.wustl.edu	37	19	39234770	39234770	+	Silent	SNP	G	G	A	rs559303590		TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr19:39234770G>A	ENST00000328867.4	-	1	344	c.36C>T	c.(34-36)ctC>ctT	p.L12L	CAPN12_ENST00000601953.1_Intron	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	12					proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.L12L(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CCTCATCCACGAGCTGGATGG	0.652													g|||	1	0.000199681	0.0	0.0	5008	,	,		14200	0.0		0.0	False		,,,				2504	0.001																1	Substitution - coding silent(1)	cervix(1)											50.0	53.0	52.0					19																	39234770		2203	4300	6503	SO:0001819	synonymous_variant	147968			BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"""EF-hand domain containing"""	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.36C>T	19.37:g.39234770G>A				Silent	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.L12	ENST00000328867.4	37	c.36	CCDS12519.1	19																																																																																			CAPN12	-	NULL		0.652	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN12	HGNC	protein_coding	OTTHUMT00000462151.1	G			39234770	-1	no_errors	ENST00000328867	ensembl	human	known	70_37	silent	SNP	1.000	A
CAT	847	genome.wustl.edu	37	11	34478296	34478296	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr11:34478296G>A	ENST00000241052.4	+	8	1077	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	330					aerobic respiration (GO:0009060)|cellular response to growth factor stimulus (GO:0071363)|cholesterol metabolic process (GO:0008203)|hemoglobin metabolic process (GO:0020027)|hydrogen peroxide catabolic process (GO:0042744)|menopause (GO:0042697)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleobase-containing small molecule metabolic process (GO:0055086)|osteoblast differentiation (GO:0001649)|positive regulation of cell division (GO:0051781)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to reactive oxygen species (GO:0000302)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|ureteric bud development (GO:0001657)|UV protection (GO:0009650)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	aminoacylase activity (GO:0004046)|antioxidant activity (GO:0016209)|catalase activity (GO:0004096)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.E330K(1)		breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	TGCTGAGGTTGAACAGATAGC	0.478																																																	1	Substitution - Missense(1)	cervix(1)											123.0	107.0	113.0					11																	34478296		2202	4298	6500	SO:0001583	missense	847			AY028632	CCDS7891.1	11p13	2012-10-02			ENSG00000121691	ENSG00000121691	1.11.1.6		1516	protein-coding gene	gene with protein product		115500					Standard	NM_001752		Approved		uc001mvm.3	P04040	OTTHUMG00000044353	ENST00000241052.4:c.988G>A	11.37:g.34478296G>A	ENSP00000241052:p.Glu330Lys		A8K6C0|B2RCZ9|D3DR07|Q2M1U4|Q4VXX5|Q9BWT9|Q9UC85	Missense_Mutation	SNP	pfam_Catalase_core,pfam_Catalase_immune_responsive,superfamily_Catalase-like_dom,prints_Catalase	p.E330K	ENST00000241052.4	37	c.988	CCDS7891.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.437566	0.96168	.	.	ENSG00000121691	ENST00000241052	D	0.94046	-3.34	6.04	5.12	0.69794	Catalase domain (1);Catalase, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.98397	0.9467	H	0.99600	4.65	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99758	1.1020	10	0.87932	D	0	-32.3063	16.6121	0.84886	0.0:0.0:0.8687:0.1313	.	330	P04040	CATA_HUMAN	K	330	ENSP00000241052:E330K	ENSP00000241052:E330K	E	+	1	0	CAT	34434872	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.837000	0.99465	1.531000	0.49152	0.563000	0.77884	GAA	CAT	-	pfam_Catalase_core,superfamily_Catalase-like_dom,prints_Catalase		0.478	CAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAT	HGNC	protein_coding	OTTHUMT00000103197.2	G	NM_001752		34478296	+1	no_errors	ENST00000241052	ensembl	human	known	70_37	missense	SNP	1.000	A
CCDC88A	55704	genome.wustl.edu	37	2	55544890	55544890	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr2:55544890C>T	ENST00000436346.1	-	20	4253	c.3412G>A	c.(3412-3414)Gaa>Aaa	p.E1138K	CCDC88A_ENST00000413716.2_Missense_Mutation_p.E1137K|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.E1138K|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000608103.1_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.E1137K	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1138					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)	p.E1137K(1)|p.E1138K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GATTCATTTTCATTTTCTAAG	0.378																																																	2	Substitution - Missense(2)	cervix(2)											128.0	129.0	129.0					2																	55544890		2203	4300	6503	SO:0001583	missense	55704			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.3412G>A	2.37:g.55544890C>T	ENSP00000410608:p.Glu1138Lys		A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	pfam_HOOK,superfamily_Prefoldin,superfamily_t-SNARE	p.E1138K	ENST00000436346.1	37	c.3412		2	.	.	.	.	.	.	.	.	.	.	C	34	5.333754	0.95758	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000412148;ENST00000413716;ENST00000426576	T;T;T;D;T;T	0.82711	1.63;1.87;1.88;-1.64;1.65;0.75	6.02	6.02	0.97574	.	0.000000	0.49305	U	0.000160	D	0.92107	0.7498	M	0.81341	2.54	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;1.0;0.999	D;D;D;D;D;D	0.91635	0.991;0.994;0.993;0.99;0.999;0.995	D	0.91889	0.5522	10	0.72032	D	0.01	-22.1434	20.5373	0.99239	0.0:1.0:0.0:0.0	.	1137;1138;1083;1138;1137;1137	B7ZM78;Q3V6T2-2;D6W5D1;Q3V6T2;Q3V6T2-3;Q3V6T2-4	.;.;.;GRDN_HUMAN;.;.	K	1137;1138;1138;183;1137;313	ENSP00000338728:E1137K;ENSP00000263630:E1138K;ENSP00000410608:E1138K;ENSP00000390012:E183K;ENSP00000404431:E1137K;ENSP00000405080:E313K	ENSP00000263630:E1138K	E	-	1	0	CCDC88A	55398394	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	7.362000	0.79507	2.857000	0.98124	0.650000	0.86243	GAA	CCDC88A	-	NULL		0.378	CCDC88A-203	KNOWN	basic	protein_coding	CCDC88A	HGNC	protein_coding		C	NM_017571		55544890	-1	no_errors	ENST00000436346	ensembl	human	known	70_37	missense	SNP	1.000	T
CD180	4064	genome.wustl.edu	37	5	66479484	66479484	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr5:66479484G>A	ENST00000256447.4	-	3	1344	c.1187C>T	c.(1186-1188)tCc>tTc	p.S396F		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	396					B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S396F(1)		cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		TTGCAAGTGGGACAGGTTTTT	0.458																																																	1	Substitution - Missense(1)	cervix(1)											128.0	130.0	129.0					5																	66479484		2203	4300	6503	SO:0001583	missense	4064			D83597	CCDS3992.1	5q12	2008-02-05	2006-03-28	2005-06-07	ENSG00000134061	ENSG00000134061		"""CD molecules"""	6726	protein-coding gene	gene with protein product		602226	"""lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD"", ""CD180 antigen"""	LY64		9763566, 8975706	Standard	NM_005582		Approved	RP105, Ly78	uc003juy.2	Q99467	OTTHUMG00000131229	ENST00000256447.4:c.1187C>T	5.37:g.66479484G>A	ENSP00000256447:p.Ser396Phe		B2R7Z7|Q32MM5	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.S396F	ENST00000256447.4	37	c.1187	CCDS3992.1	5	.	.	.	.	.	.	.	.	.	.	G	11.50	1.655811	0.29425	.	.	ENSG00000134061	ENST00000256447	T	0.58506	0.33	4.81	-2.94	0.05581	.	1.305820	0.05120	N	0.490555	T	0.51652	0.1687	L	0.48260	1.515	0.09310	N	1	P	0.50066	0.931	P	0.46825	0.528	T	0.48317	-0.9046	10	0.45353	T	0.12	.	4.894	0.13740	0.1917:0.4414:0.2757:0.0912	.	396	Q99467	CD180_HUMAN	F	396	ENSP00000256447:S396F	ENSP00000256447:S396F	S	-	2	0	CD180	66515240	0.000000	0.05858	0.000000	0.03702	0.609000	0.37215	-1.725000	0.01863	-0.956000	0.03631	0.563000	0.77884	TCC	CD180	-	smart_Leu-rich_rpt_typical-subtyp		0.458	CD180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD180	HGNC	protein_coding	OTTHUMT00000253973.2	G	NM_005582		66479484	-1	no_errors	ENST00000256447	ensembl	human	known	70_37	missense	SNP	0.000	A
CD36	948	genome.wustl.edu	37	7	80292452	80292452	+	Silent	SNP	C	C	T			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr7:80292452C>T	ENST00000435819.1	+	9	1260	c.576C>T	c.(574-576)taC>taT	p.Y192Y	CD36_ENST00000534394.1_Silent_p.Y116Y|CD36_ENST00000432207.1_Silent_p.Y192Y|CD36_ENST00000544133.1_Silent_p.Y192Y|CD36_ENST00000433696.2_Silent_p.Y192Y|CD36_ENST00000394788.3_Silent_p.Y192Y|CD36_ENST00000309881.7_Silent_p.Y192Y|CD36_ENST00000538969.1_Intron|CD36_ENST00000447544.2_Silent_p.Y192Y			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	192					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular lipid metabolic process (GO:0044255)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to hydroperoxide (GO:0071447)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cGMP-mediated signaling (GO:0019934)|cholesterol transport (GO:0030301)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|lipoprotein transport (GO:0042953)|long-chain fatty acid import (GO:0044539)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle mediated signaling (GO:0055096)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitric oxide mediated signal transduction (GO:0007263)|phagocytosis, recognition (GO:0006910)|plasma lipoprotein particle clearance (GO:0034381)|plasma membrane long-chain fatty acid transport (GO:0015911)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood microparticle formation (GO:2000334)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of removal of superoxide radicals (GO:2000121)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|lipoteichoic acid receptor activity (GO:0070892)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|thrombospondin receptor activity (GO:0070053)|transforming growth factor beta binding (GO:0050431)	p.Y192Y(4)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						TGGTTCCGTACCCTGTTACTA	0.338																																																	4	Substitution - coding silent(4)	cervix(4)											174.0	167.0	169.0					7																	80292452		2203	4300	6503	SO:0001819	synonymous_variant	948			Z32770	CCDS34673.1	7q11.2	2010-02-26	2006-03-28		ENSG00000135218	ENSG00000135218		"""CD molecules"""	1663	protein-coding gene	gene with protein product		173510	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)"""			7503937	Standard	NM_001001548		Approved	SCARB3, GPIV, FAT, GP4, GP3B	uc003uhg.4	P16671	OTTHUMG00000155383	ENST00000435819.1:c.576C>T	7.37:g.80292452C>T			D9IX66|D9IX67|D9IX68|D9IX69|Q13966|Q16093|Q8TCV7|Q9BPZ8|Q9BQC2|Q9BZM8|Q9BZN3|Q9BZN4|Q9BZN5	Silent	SNP	pfam_CD36,prints_CD36_antigen,prints_CD36	p.Y192	ENST00000435819.1	37	c.576	CCDS34673.1	7																																																																																			CD36	-	pfam_CD36,prints_CD36_antigen		0.338	CD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD36	HGNC	protein_coding	OTTHUMT00000339767.6	C	NM_001001547		80292452	+1	no_errors	ENST00000309881	ensembl	human	known	70_37	silent	SNP	0.000	T
CD44	960	genome.wustl.edu	37	11	35231516	35231516	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr11:35231516G>C	ENST00000428726.2	+	13	1644	c.1521G>C	c.(1519-1521)caG>caC	p.Q507H	CD44_ENST00000433892.2_Missense_Mutation_p.Q258H|CD44_ENST00000415148.2_Missense_Mutation_p.Q464H|CD44_ENST00000526669.2_Intron|CD44_ENST00000360158.4_Intron|CD44_ENST00000278386.6_Intron|CD44_ENST00000449691.2_Missense_Mutation_p.Q464H|CD44_ENST00000352818.4_Intron|CD44_ENST00000437706.2_Missense_Mutation_p.Q507H|RP1-68D18.2_ENST00000510619.2_RNA|RP1-68D18.4_ENST00000528869.1_RNA|CD44_ENST00000434472.2_Intron|CD44_ENST00000433354.2_Intron|CD44_ENST00000263398.6_Intron	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	507	Stem.				blood coagulation (GO:0007596)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|monocyte aggregation (GO:0070487)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|Wnt signaling pathway (GO:0016055)|wound healing involved in inflammatory response (GO:0002246)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)	p.Q507H(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronan(DB08818)	AAACAGAGCAGAGTAATTCTC	0.383																																																	1	Substitution - Missense(1)	cervix(1)											118.0	111.0	113.0					11																	35231516		2202	4298	6500	SO:0001583	missense	960			M59040	CCDS7897.1, CCDS31455.1, CCDS31456.1, CCDS31457.1, CCDS31458.1, CCDS55754.1, CCDS55755.1	11p13	2014-07-18	2006-03-28		ENSG00000026508	ENSG00000026508		"""CD molecules"", ""Blood group antigens"", ""Proteoglycans / Cell surface : Other"""	1681	protein-coding gene	gene with protein product	"""hematopoietic cell E- and L-selectin ligand"", ""chondroitin sulfate proteoglycan 8"""	107269	"""CD44 antigen (homing function and Indian blood group system)"""	MIC4, MDU2, MDU3		2454887	Standard	NM_001202555		Approved	IN, MC56, Pgp1, CD44R, HCELL, CSPG8	uc001mvu.3	P16070	OTTHUMG00000044388	ENST00000428726.2:c.1521G>C	11.37:g.35231516G>C	ENSP00000398632:p.Gln507His		A5YRN9|B6EAT9|D3DR12|D3DR13|O95370|P22511|Q04858|Q13419|Q13957|Q13958|Q13959|Q13960|Q13961|Q13967|Q13968|Q13980|Q15861|Q16064|Q16065|Q16066|Q16208|Q16522|Q86T72|Q86Z27|Q8N694|Q92493|Q96J24|Q9H5A5|Q9UC28|Q9UC29|Q9UC30|Q9UCB0|Q9UJ36	Missense_Mutation	SNP	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_CD44_antigen,prints_Link	p.Q507H	ENST00000428726.2	37	c.1521	CCDS7897.1	11	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	11.55|11.55|11.55	1.670754|1.670754|1.670754	0.29693|0.29693|0.29693	.|.|.	.|.|.	ENSG00000026508|ENSG00000026508|ENSG00000026508	ENST00000526553|ENST00000415148;ENST00000449691;ENST00000437706;ENST00000428726;ENST00000433892;ENST00000531110;ENST00000278385;ENST00000533222;ENST00000528672|ENST00000531873;ENST00000525685	.|T;T;T;T;T;T;T;T;T|.	.|0.19532|.	.|2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14|.	5.53|5.53|5.53	2.66|2.66|2.66	0.31614|0.31614|0.31614	.|.|.	.|0.503235|.	.|0.17474|.	.|N|.	.|0.172995|.	T|T|T	0.53850|0.53850|0.53850	0.1822|0.1822|0.1822	M|M|M	0.74881|0.74881|0.74881	2.28|2.28|2.28	0.09310|0.09310|0.09310	N|N|N	0.999996|0.999996|0.999996	.|D;D;D|.	.|0.65815|.	.|0.995;0.983;0.971|.	.|P;P;P|.	.|0.58172|.	.|0.834;0.789;0.707|.	T|T|T	0.44711|0.44711|0.44711	-0.9310|-0.9310|-0.9310	5|10|5	.|0.15952|.	.|T|.	.|0.53|.	-9.4689|-9.4689|-9.4689	7.9437|7.9437|7.9437	0.29974|0.29974|0.29974	0.2583:0.0:0.7417:0.0|0.2583:0.0:0.7417:0.0|0.2583:0.0:0.7417:0.0	.|.|.	.|258;464;507|.	.|P16070-10;P16070-4;P16070|.	.|.;.;CD44_HUMAN|.	Q|H|T	160|464;464;507;507;258;219;94;133;115|145;211	.|ENSP00000389830:Q464H;ENSP00000391008:Q464H;ENSP00000403990:Q507H;ENSP00000398632:Q507H;ENSP00000392331:Q258H;ENSP00000436549:Q219H;ENSP00000278385:Q94H;ENSP00000435321:Q133H;ENSP00000431860:Q115H|.	.|ENSP00000278385:Q94H|.	E|Q|R	+|+|+	1|3|2	0|2|0	CD44|CD44|CD44	35188092|35188092|35188092	0.848000|0.848000|0.848000	0.29623|0.29623|0.29623	0.209000|0.209000|0.209000	0.23619|0.23619|0.23619	0.147000|0.147000|0.147000	0.21601|0.21601|0.21601	0.645000|0.645000|0.645000	0.24782|0.24782|0.24782	0.299000|0.299000|0.299000	0.22661|0.22661|0.22661	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAG|CAG|AGA	CD44	-	NULL		0.383	CD44-001	KNOWN	basic|CCDS	protein_coding	CD44	HGNC	protein_coding	OTTHUMT00000388927.1	G	NM_000610		35231516	+1	no_errors	ENST00000428726	ensembl	human	known	70_37	missense	SNP	0.158	C
CDC27	996	genome.wustl.edu	37	17	45234397	45234397	+	Missense_Mutation	SNP	G	G	A	rs7350908		TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr17:45234397G>A	ENST00000066544.3	-	7	817	c.724C>T	c.(724-726)Cct>Tct	p.P242S	CDC27_ENST00000446365.2_Missense_Mutation_p.P181S|CDC27_ENST00000527547.1_Missense_Mutation_p.P242S|CDC27_ENST00000528748.1_5'Flank|CDC27_ENST00000531206.1_Missense_Mutation_p.P242S	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	242					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						ACAGTATCAGGTGAAATTACA	0.363																																																	0													44.0	48.0	47.0					17																	45234397		2191	4293	6484	SO:0001583	missense	996			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.724C>T	17.37:g.45234397G>A	ENSP00000066544:p.Pro242Ser		G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.P242S	ENST00000066544.3	37	c.724	CCDS11509.1	17	.	.	.	.	.	.	.	.	.	.	G	14.01	2.407694	0.42715	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	T;T;T;T;T	0.67523	-0.26;-0.27;0.01;-0.27;0.49	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.51517	0.1679	L	0.29908	0.895	0.80722	D	1	B;B;B;B	0.26195	0.0;0.014;0.0;0.144	B;B;B;B	0.20955	0.001;0.008;0.001;0.032	T	0.50004	-0.8878	10	0.06099	T	0.92	-16.7932	16.7505	0.85484	0.0:0.0:1.0:0.0	rs7350908;rs52796638;rs7350908	181;242;242;242	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	S	242;242;181;242;242	ENSP00000066544:P242S;ENSP00000434614:P242S;ENSP00000392802:P181S;ENSP00000437339:P242S;ENSP00000432105:P242S	ENSP00000066544:P242S	P	-	1	0	CDC27	42589396	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.436000	0.80404	2.555000	0.86185	0.460000	0.39030	CCT	CDC27	-	NULL		0.363	CDC27-001	KNOWN	basic|CCDS	protein_coding	CDC27	HGNC	protein_coding	OTTHUMT00000389742.2	G			45234397	-1	no_errors	ENST00000531206	ensembl	human	known	70_37	missense	SNP	1.000	A
CDH7	1005	genome.wustl.edu	37	18	63481756	63481756	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr18:63481756G>A	ENST00000397968.2	+	4	967	c.541G>A	c.(541-543)Gat>Aat	p.D181N	CDH7_ENST00000323011.3_Missense_Mutation_p.D181N|CDH7_ENST00000536984.2_Missense_Mutation_p.D181N	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	181	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)	p.D181N(2)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GACGGATGCTGATGATCCTAC	0.433																																																	2	Substitution - Missense(2)	cervix(2)											190.0	173.0	179.0					18																	63481756		2203	4300	6503	SO:0001583	missense	1005			AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.541G>A	18.37:g.63481756G>A	ENSP00000381058:p.Asp181Asn		Q9H157	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D181N	ENST00000397968.2	37	c.541	CCDS11993.1	18	.	.	.	.	.	.	.	.	.	.	G	34	5.363073	0.95877	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.74002	-0.8;-0.8;-0.8	5.45	5.45	0.79879	Cadherin (5);Cadherin-like (1);	0.271361	0.35772	N	0.002991	D	0.90007	0.6880	M	0.93062	3.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.91857	0.5496	10	0.87932	D	0	.	19.6512	0.95812	0.0:0.0:1.0:0.0	.	181;181	F5H5X9;Q9ULB5	.;CADH7_HUMAN	N	181	ENSP00000319166:D181N;ENSP00000443030:D181N;ENSP00000381058:D181N	ENSP00000319166:D181N	D	+	1	0	CDH7	61632736	1.000000	0.71417	0.870000	0.34147	0.833000	0.47200	9.269000	0.95684	2.712000	0.92718	0.591000	0.81541	GAT	CDH7	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.433	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH7	HGNC	protein_coding	OTTHUMT00000256217.2	G	NM_033646		63481756	+1	no_errors	ENST00000323011	ensembl	human	known	70_37	missense	SNP	1.000	A
CHRNA3	1136	genome.wustl.edu	37	15	78894271	78894271	+	Missense_Mutation	SNP	C	C	T	rs149559299	byFrequency	TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr15:78894271C>T	ENST00000326828.5	-	5	1097	c.713G>A	c.(712-714)cGg>cAg	p.R238Q	CHRNA3_ENST00000348639.3_Missense_Mutation_p.R238Q	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	238					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane potential (GO:0042391)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)	p.R238Q(1)		central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18					Bupropion(DB01156)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)|Varenicline(DB01273)	GGGCAGGCGCCGGATGTACAG	0.567																																																	1	Substitution - Missense(1)	cervix(1)						C	GLN/ARG,GLN/ARG	0,4392		0,0,2196	212.0	174.0	187.0		713,713	5.9	1.0	15	dbSNP_134	187	2,8584	2.2+/-6.3	0,2,4291	no	missense,missense	CHRNA3	NM_000743.4,NM_001166694.1	43,43	0,2,6487	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	238/506,238/490	78894271	2,12976	2196	4293	6489	SO:0001583	missense	1136				CCDS10305.1, CCDS53964.1	15q24	2012-02-11	2012-02-07		ENSG00000080644	ENSG00000080644		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1957	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 3 (neuronal)"""	118503	"""cholinergic receptor, nicotinic, alpha polypeptide 3"""			2004777	Standard	NM_000743		Approved		uc002bec.3	P32297	OTTHUMG00000143863	ENST00000326828.5:c.713G>A	15.37:g.78894271C>T	ENSP00000315602:p.Arg238Gln		Q15823|Q4KMN8|Q86U77|Q96RH3|Q99553|Q9BQ93|Q9BRR4	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.R238Q	ENST00000326828.5	37	c.713	CCDS10305.1	15	.	.	.	.	.	.	.	.	.	.	C	33	5.252014	0.95336	0.0	2.33E-4	ENSG00000080644	ENST00000348639;ENST00000326828;ENST00000326858	T;T	0.79033	-1.23;-1.23	5.91	5.91	0.95273	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.88347	0.6412	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87935	0.2713	10	0.62326	D	0.03	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	238;238	P32297;P32297-3	ACHA3_HUMAN;.	Q	238;238;102	ENSP00000267951:R238Q;ENSP00000315602:R238Q	ENSP00000315602:R238Q	R	-	2	0	CHRNA3	76681326	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	6.064000	0.71169	2.793000	0.96121	0.655000	0.94253	CGG	CHRNA3	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel		0.567	CHRNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA3	HGNC	protein_coding	OTTHUMT00000290111.3	C			78894271	-1	no_errors	ENST00000326828	ensembl	human	known	70_37	missense	SNP	1.000	T
CLEC14A	161198	genome.wustl.edu	37	14	38724396	38724396	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr14:38724396C>G	ENST00000342213.2	-	1	1178	c.832G>C	c.(832-834)Gag>Cag	p.E278Q		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	278	EGF-like.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.E278Q(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		TTCCCCAGCTCGAAGCCCGTA	0.672																																																	1	Substitution - Missense(1)	cervix(1)											54.0	60.0	58.0					14																	38724396		2203	4300	6503	SO:0001583	missense	161198				CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"""C-type lectin domain containing"""	19832	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 27"""	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.832G>C	14.37:g.38724396C>G	ENSP00000353013:p.Glu278Gln		Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.E278Q	ENST00000342213.2	37	c.832	CCDS9667.1	14	.	.	.	.	.	.	.	.	.	.	C	1.420	-0.573159	0.03882	.	.	ENSG00000176435	ENST00000342213;ENST00000546356	D	0.95518	-3.73	3.91	-1.73	0.08081	Epidermal growth factor-like (1);	0.925114	0.08812	N	0.890179	D	0.87585	0.6214	N	0.19112	0.55	0.20403	N	0.999907	B	0.14438	0.01	B	0.11329	0.006	T	0.75119	-0.3430	10	0.19147	T	0.46	-4.2138	4.008	0.09610	0.1564:0.2864:0.46:0.0972	.	278	Q86T13	CLC14_HUMAN	Q	278;43	ENSP00000353013:E278Q	ENSP00000353013:E278Q	E	-	1	0	CLEC14A	37794147	0.000000	0.05858	0.589000	0.28718	0.057000	0.15508	-0.683000	0.05179	-0.316000	0.08690	-0.218000	0.12543	GAG	CLEC14A	-	NULL		0.672	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC14A	HGNC	protein_coding	OTTHUMT00000276729.1	C	NM_175060		38724396	-1	no_errors	ENST00000342213	ensembl	human	known	70_37	missense	SNP	0.580	G
COL24A1	255631	genome.wustl.edu	37	1	86590534	86590534	+	Silent	SNP	T	T	C			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr1:86590534T>C	ENST00000370571.2	-	3	1851	c.1485A>G	c.(1483-1485)ggA>ggG	p.G495G	COL24A1_ENST00000436319.1_Silent_p.G495G	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	495	Collagen-like 1.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTACGGGAGGTCCAGTGTCTC	0.308																																																	0													39.0	37.0	37.0					1																	86590534		1800	4065	5865	SO:0001819	synonymous_variant	255631			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.1485A>G	1.37:g.86590534T>C			C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.G495	ENST00000370571.2	37	c.1485	CCDS41353.1	1																																																																																			COL24A1	-	pfam_Collagen		0.308	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL24A1	HGNC	protein_coding	OTTHUMT00000029335.4	T	NM_152890		86590534	-1	no_errors	ENST00000370571	ensembl	human	known	70_37	silent	SNP	1.000	C
CRB1	23418	genome.wustl.edu	37	1	197326066	197326066	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr1:197326066G>A	ENST00000367400.3	+	5	1229	c.1094G>A	c.(1093-1095)cGc>cAc	p.R365H	CRB1_ENST00000535699.1_Missense_Mutation_p.R296H|CRB1_ENST00000543483.1_Missense_Mutation_p.R64H|CRB1_ENST00000367399.2_Missense_Mutation_p.R253H|CRB1_ENST00000538660.1_Missense_Mutation_p.R365H	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	365	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R365H(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CAATATGGACGCATCACTGGA	0.498																																																	1	Substitution - Missense(1)	cervix(1)											200.0	166.0	178.0					1																	197326066		2203	4300	6503	SO:0001583	missense	23418				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1094G>A	1.37:g.197326066G>A	ENSP00000356370:p.Arg365His		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.R365H	ENST00000367400.3	37	c.1094	CCDS1390.1	1	.	.	.	.	.	.	.	.	.	.	G	0.036	-1.305761	0.01353	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000543483	D;D;D;D;D	0.87650	-1.94;-2.1;-1.79;-2.28;-2.21	5.19	-6.1	0.02138	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.73799	0.3633	N	0.22421	0.69	0.09310	N	0.999998	B;B;B;B;B	0.19817	0.001;0.001;0.003;0.006;0.039	B;B;B;B;B	0.14578	0.004;0.004;0.002;0.01;0.011	T	0.57751	-0.7757	9	0.34782	T	0.22	.	8.5268	0.33309	0.6114:0.0:0.2805:0.1081	.	365;296;253;365;390	B7Z5T2;F5H0L2;P82279-3;P82279;Q59H36	.;.;.;CRUM1_HUMAN;.	H	296;365;365;253;64	ENSP00000438786:R296H;ENSP00000438091:R365H;ENSP00000356370:R365H;ENSP00000356369:R253H;ENSP00000439579:R64H	ENSP00000356369:R253H	R	+	2	0	CRB1	195592689	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.310000	0.02725	-0.834000	0.04239	-1.475000	0.01000	CGC	CRB1	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.498	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CRB1	HGNC	protein_coding	OTTHUMT00000086565.2	G	NM_201253		197326066	+1	no_errors	ENST00000367400	ensembl	human	known	70_37	missense	SNP	0.000	A
CREBBP	1387	genome.wustl.edu	37	16	3900914	3900914	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr16:3900914G>A	ENST00000262367.5	-	2	991	c.182C>T	c.(181-183)cCa>cTa	p.P61L	CREBBP_ENST00000382070.3_Missense_Mutation_p.P61L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	61					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.P61L(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGCAGCATCTGGAACAAGGTT	0.468			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	1	Substitution - Missense(1)	cervix(1)											81.0	77.0	78.0					16																	3900914		2197	4300	6497	SO:0001583	missense	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.182C>T	16.37:g.3900914G>A	ENSP00000262367:p.Pro61Leu		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.P61L	ENST00000262367.5	37	c.182	CCDS10509.1	16	.	.	.	.	.	.	.	.	.	.	G	16.96	3.265044	0.59431	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.84873	-1.91;-1.85	5.85	5.85	0.93711	.	0.074165	0.56097	D	0.000021	D	0.87649	0.6230	L	0.42245	1.32	0.80722	D	1	P;D	0.89917	0.78;1.0	P;D	0.71870	0.602;0.975	T	0.82579	-0.0387	10	0.10377	T	0.69	-6.2037	14.9464	0.71035	0.0:0.0:0.8571:0.1429	.	129;61	Q4LE28;Q92793	.;CBP_HUMAN	L	61;129;61	ENSP00000262367:P61L;ENSP00000371502:P61L	ENSP00000262367:P61L	P	-	2	0	CREBBP	3840915	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.970000	0.63742	2.765000	0.95021	0.637000	0.83480	CCA	CREBBP	-	NULL		0.468	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2	G	NM_004380		3900914	-1	no_errors	ENST00000262367	ensembl	human	known	70_37	missense	SNP	1.000	A
CROCC	9696	genome.wustl.edu	37	1	17285209	17285209	+	Silent	SNP	G	G	A			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr1:17285209G>A	ENST00000375541.5	+	26	4065	c.3996G>A	c.(3994-3996)ctG>ctA	p.L1332L		NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin									p.L1332L(1)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		AGAGGCTGCTGAAGGGCGAGG	0.711																																																	1	Substitution - coding silent(1)	cervix(1)											7.0	8.0	7.0					1																	17285209		2149	4227	6376	SO:0001819	synonymous_variant	9696			AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.3996G>A	1.37:g.17285209G>A				Silent	SNP	superfamily_Prefoldin,superfamily_t-SNARE	p.L1332	ENST00000375541.5	37	c.3996	CCDS30616.1	1																																																																																			CROCC	-	NULL		0.711	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CROCC	HGNC	protein_coding	OTTHUMT00000006249.2	G	NM_014675		17285209	+1	no_errors	ENST00000375541	ensembl	human	known	70_37	silent	SNP	0.929	A
CRTC2	200186	genome.wustl.edu	37	1	153927568	153927568	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr1:153927568C>G	ENST00000368633.1	-	2	355	c.228G>C	c.(226-228)caG>caC	p.Q76H	CRTC2_ENST00000476883.1_5'UTR|CRTC2_ENST00000368630.3_Intron	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	76					gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|histone H3-K9 acetylation (GO:0043970)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)	p.Q76H(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGAGCCAATCTGGTTAACAT	0.532																																																	1	Substitution - Missense(1)	cervix(1)											78.0	78.0	78.0					1																	153927568		2203	4300	6503	SO:0001583	missense	200186			AY360172	CCDS30875.1	1q21.3	2008-02-05			ENSG00000160741	ENSG00000160741			27301	protein-coding gene	gene with protein product		608972				14506290, 14536081	Standard	NM_181715		Approved	TORC2	uc021pab.1	Q53ET0	OTTHUMG00000037156	ENST00000368633.1:c.228G>C	1.37:g.153927568C>G	ENSP00000357622:p.Gln76His		Q6UUV8|Q7Z3X7|Q8N332	Missense_Mutation	SNP	NULL	p.Q76H	ENST00000368633.1	37	c.228	CCDS30875.1	1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.539748	0.65085	.	.	ENSG00000160741	ENST00000368633	T	0.20881	2.04	4.68	3.77	0.43336	.	0.156269	0.42821	D	0.000643	T	0.24547	0.0595	L	0.50333	1.59	0.36358	D	0.860486	D	0.67145	0.996	D	0.75484	0.986	T	0.05533	-1.0879	10	0.72032	D	0.01	-9.8487	8.4177	0.32681	0.0:0.8933:0.0:0.1067	.	76	Q53ET0	CRTC2_HUMAN	H	76	ENSP00000357622:Q76H	ENSP00000357622:Q76H	Q	-	3	2	CRTC2	152194192	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	3.919000	0.56439	1.193000	0.43086	0.305000	0.20034	CAG	CRTC2	-	NULL		0.532	CRTC2-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CRTC2	HGNC	protein_coding	OTTHUMT00000090272.3	C	NM_181715		153927568	-1	no_errors	ENST00000368633	ensembl	human	known	70_37	missense	SNP	1.000	G
CRX	1406	genome.wustl.edu	37	19	48342779	48342779	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr19:48342779C>T	ENST00000221996.7	+	4	661	c.455C>T	c.(454-456)tCc>tTc	p.S152F	CRX_ENST00000539067.1_Missense_Mutation_p.S152F|TPRX2P_ENST00000535362.1_Intron	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	152					circadian rhythm (GO:0007623)|organ morphogenesis (GO:0009887)|positive regulation of photoreceptor cell differentiation (GO:0046534)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|leucine zipper domain binding (GO:0043522)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S152F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		CCCTCAGGCTCCCCAACCACG	0.667																																					Pancreas(57;461 1196 22201 40716 47188)												1	Substitution - Missense(1)	cervix(1)	GRCh37	CM083614	CRX	M							39.0	42.0	41.0					19																	48342779		2202	4297	6499	SO:0001583	missense	1406			AF024711	CCDS12706.1	19q13.3	2013-01-08				ENSG00000105392		"""Homeoboxes / PRD class"""	2383	protein-coding gene	gene with protein product	"""orthodenticle homeobox 3"""	602225		CORD2		9390563, 9537410	Standard	NM_000554		Approved	CRD, LCA7, OTX3	uc002phq.4	O43186		ENST00000221996.7:c.455C>T	19.37:g.48342779C>T	ENSP00000221996:p.Ser152Phe		Q0QD45	Missense_Mutation	SNP	pfam_Homeodomain,pfam_Otx_TF_C,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.S152F	ENST00000221996.7	37	c.455	CCDS12706.1	19	.	.	.	.	.	.	.	.	.	.	C	16.77	3.215953	0.58452	.	.	ENSG00000105392	ENST00000221996;ENST00000539067	D;D	0.91068	-2.78;-2.78	3.93	3.93	0.45458	.	0.191628	0.43579	D	0.000545	D	0.86222	0.5881	L	0.55481	1.735	0.28961	N	0.889818	P	0.45902	0.868	B	0.36534	0.227	T	0.83177	-0.0091	10	0.41790	T	0.15	-17.2824	13.5154	0.61537	0.0:1.0:0.0:0.0	.	152	O43186	CRX_HUMAN	F	152	ENSP00000221996:S152F;ENSP00000445565:S152F	ENSP00000221996:S152F	S	+	2	0	CRX	53034591	0.449000	0.25689	0.338000	0.25549	0.846000	0.48090	5.324000	0.65863	2.024000	0.59613	0.467000	0.42956	TCC	CRX	-	NULL		0.667	CRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRX	HGNC	protein_coding	OTTHUMT00000409812.4	C	NM_000554		48342779	+1	no_errors	ENST00000221996	ensembl	human	known	70_37	missense	SNP	0.857	T
CTCFL	140690	genome.wustl.edu	37	20	56098962	56098962	+	Silent	SNP	C	C	T			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr20:56098962C>T	ENST00000608263.1	-	1	961	c.300G>A	c.(298-300)ctG>ctA	p.L100L	CTCFL_ENST00000432255.2_Silent_p.L100L|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000481655.2_Silent_p.L100L|CTCFL_ENST00000422869.2_Silent_p.L100L|CTCFL_ENST00000371196.2_Silent_p.L100L|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000429804.3_Silent_p.L100L|CTCFL_ENST00000608440.1_Silent_p.L100L|CTCFL_ENST00000243914.3_Silent_p.L100L|CTCFL_ENST00000608158.1_Silent_p.L100L|CTCFL_ENST00000423479.3_Silent_p.L100L|CTCFL_ENST00000608425.1_Silent_p.L100L|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000433949.3_Intron|CTCFL_ENST00000609232.1_Silent_p.L100L|CTCFL_ENST00000608903.1_Intron	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	100					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)	p.L100L(1)		NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GCTGTATGCTCAGCAAGCTCA	0.607																																																	1	Substitution - coding silent(1)	cervix(1)											76.0	66.0	70.0					20																	56098962		2202	4299	6501	SO:0001819	synonymous_variant	140690				CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.300G>A	20.37:g.56098962C>T			A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L100	ENST00000608263.1	37	c.300	CCDS13459.1	20																																																																																			CTCFL	-	NULL		0.607	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	CTCFL	HGNC	protein_coding	OTTHUMT00000472040.1	C	NM_080618		56098962	-1	no_errors	ENST00000423479	ensembl	human	known	70_37	silent	SNP	0.866	T
CTCFL	140690	genome.wustl.edu	37	20	56099150	56099150	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr20:56099150C>G	ENST00000608263.1	-	1	773	c.112G>C	c.(112-114)Gag>Cag	p.E38Q	CTCFL_ENST00000432255.2_Missense_Mutation_p.E38Q|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000481655.2_Missense_Mutation_p.E38Q|CTCFL_ENST00000422869.2_Missense_Mutation_p.E38Q|CTCFL_ENST00000371196.2_Missense_Mutation_p.E38Q|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000429804.3_Missense_Mutation_p.E38Q|CTCFL_ENST00000608440.1_Missense_Mutation_p.E38Q|CTCFL_ENST00000243914.3_Missense_Mutation_p.E38Q|CTCFL_ENST00000608158.1_Missense_Mutation_p.E38Q|CTCFL_ENST00000423479.3_Missense_Mutation_p.E38Q|CTCFL_ENST00000608425.1_Missense_Mutation_p.E38Q|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000433949.3_Intron|CTCFL_ENST00000609232.1_Missense_Mutation_p.E38Q|CTCFL_ENST00000608903.1_Intron	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	38					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)	p.E38Q(1)		NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TGGTCTTTCTCTCTGCACACT	0.552																																																	1	Substitution - Missense(1)	cervix(1)											220.0	241.0	234.0					20																	56099150		2203	4300	6503	SO:0001583	missense	140690				CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.112G>C	20.37:g.56099150C>G	ENSP00000476783:p.Glu38Gln		A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E38Q	ENST00000608263.1	37	c.112	CCDS13459.1	20	.	.	.	.	.	.	.	.	.	.	C	9.891	1.204181	0.22205	.	.	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804;ENST00000433949;ENST00000422109;ENST00000426658;ENST00000432255;ENST00000422869	T;T;T;T;T;T;T;T;T	0.10288	2.89;2.92;2.92;3.1;2.95;3.27;2.95;3.57;2.95	4.11	-0.43	0.12299	.	1.699740	0.03893	N	0.279096	T	0.09949	0.0244	N	0.22421	0.69	0.09310	N	1	P;P;B;D;B;B;B;B	0.59357	0.523;0.523;0.137;0.985;0.277;0.137;0.277;0.277	B;B;B;P;B;B;B;B	0.49799	0.063;0.063;0.043;0.622;0.043;0.043;0.063;0.063	T	0.20338	-1.0278	10	0.29301	T	0.29	-1.0794	2.6059	0.04878	0.1821:0.3568:0.3549:0.1062	.	38;38;38;38;38;38;38;38	A6XGM3;A6XGM0;A6XGM9;A6XGM8;A6XGM2;E7EUE3;A6XGL8;Q8NI51	.;.;.;.;.;.;.;CTCFL_HUMAN	Q	38	ENSP00000415579:E38Q;ENSP00000243914:E38Q;ENSP00000360239:E38Q;ENSP00000415329:E38Q;ENSP00000392034:E38Q;ENSP00000413713:E38Q;ENSP00000403369:E38Q;ENSP00000409344:E38Q;ENSP00000399061:E38Q	ENSP00000243914:E38Q	E	-	1	0	CTCFL	55532556	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.560000	0.23500	0.352000	0.24053	-0.176000	0.13171	GAG	CTCFL	-	NULL		0.552	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	CTCFL	HGNC	protein_coding	OTTHUMT00000472040.1	C	NM_080618		56099150	-1	no_errors	ENST00000423479	ensembl	human	known	70_37	missense	SNP	0.000	G
DAAM1	23002	genome.wustl.edu	37	14	59792443	59792443	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr14:59792443G>C	ENST00000395125.1	+	8	1074	c.1051G>C	c.(1051-1053)Gaa>Caa	p.E351Q	DAAM1_ENST00000351081.1_Missense_Mutation_p.E351Q|DAAM1_ENST00000360909.3_Missense_Mutation_p.E351Q	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	351	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)	p.E351Q(1)		breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CAAAAGATTTGAACTGGTACG	0.328																																																	1	Substitution - Missense(1)	cervix(1)											122.0	122.0	122.0					14																	59792443		2203	4300	6503	SO:0001583	missense	23002			AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.1051G>C	14.37:g.59792443G>C	ENSP00000378557:p.Glu351Gln		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_Actin-bd_FH2/DRF_autoreg	p.E351Q	ENST00000395125.1	37	c.1051	CCDS9737.1	14	.	.	.	.	.	.	.	.	.	.	G	22.2	4.256439	0.80246	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	D;D;D	0.84298	-1.83;-1.83;-1.83	5.35	5.35	0.76521	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	0.088862	0.85682	D	0.000000	D	0.86793	0.6018	M	0.62723	1.935	0.80722	D	1	P;P	0.39404	0.621;0.672	B;B	0.42995	0.282;0.404	D	0.87106	0.2182	10	0.59425	D	0.04	.	19.6142	0.95626	0.0:0.0:1.0:0.0	.	351;351	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	Q	351	ENSP00000354162:E351Q;ENSP00000247170:E351Q;ENSP00000378557:E351Q	ENSP00000247170:E351Q	E	+	1	0	DAAM1	58862196	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.601000	0.98297	2.941000	0.99782	0.655000	0.94253	GAA	DAAM1	-	pfam_Drf_FH3,superfamily_ARM-type_fold		0.328	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DAAM1	HGNC	protein_coding	OTTHUMT00000276942.2	G	NM_014992		59792443	+1	no_errors	ENST00000351081	ensembl	human	known	70_37	missense	SNP	1.000	C
DLGAP3	58512	genome.wustl.edu	37	1	35365805	35365805	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr1:35365805G>A	ENST00000373347.1	-	4	1445	c.1177C>T	c.(1177-1179)Cgg>Tgg	p.R393W	DLGAP3_ENST00000235180.4_Missense_Mutation_p.R393W			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	393					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)	p.R393W(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CTGCCGCTCCGCATCCTGCGG	0.632																																																	1	Substitution - Missense(1)	cervix(1)											98.0	97.0	98.0					1																	35365805		2203	4300	6503	SO:0001583	missense	58512			AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.1177C>T	1.37:g.35365805G>A	ENSP00000362444:p.Arg393Trp		Q5TDD5|Q9H3X7	Missense_Mutation	SNP	pfam_GKAP	p.R393W	ENST00000373347.1	37	c.1177	CCDS30670.1	1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459750	0.84317	.	.	ENSG00000116544	ENST00000373347;ENST00000235180;ENST00000542913	T;T	0.18502	2.21;2.21	4.44	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.41073	0.1143	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.36407	-0.9749	10	0.87932	D	0	-14.0028	12.3663	0.55230	0.0:0.0:0.8314:0.1686	.	393	O95886	DLGP3_HUMAN	W	393;393;76	ENSP00000362444:R393W;ENSP00000235180:R393W	ENSP00000235180:R393W	R	-	1	2	DLGAP3	35138392	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.647000	0.54403	2.296000	0.77279	0.313000	0.20887	CGG	DLGAP3	-	NULL		0.632	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP3	HGNC	protein_coding	OTTHUMT00000011554.1	G	NM_021234		35365805	-1	no_errors	ENST00000235180	ensembl	human	known	70_37	missense	SNP	1.000	A
DPP9	91039	genome.wustl.edu	37	19	4702154	4702155	+	Missense_Mutation	DNP	GA	GA	CT			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G|A	G|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr19:4702154_4702155GA>CT	ENST00000598800.1	-	10	1314_1315	c.809_810TC>AG	c.(808-810)cTC>cAG	p.L270Q	DPP9_ENST00000262960.9_Missense_Mutation_p.L299Q|DPP9_ENST00000597849.1_Missense_Mutation_p.L299Q|DPP9_ENST00000594671.1_Missense_Mutation_p.L270Q			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	270						cytoplasm (GO:0005737)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236)	p.L378H(1)|p.L378L(1)		cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GCAGCGTCTTGAGGCCCTCTGA	0.614																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	cervix(2)																																								SO:0001583	missense	91039			AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002			18648	protein-coding gene	gene with protein product		608258	"""dipeptidylpeptidase 9"""				Standard	NM_139159		Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000598800.1:c.809_810delinsCT	19.37:g.4702154_4702155delinsCT	ENSP00000469603:p.Leu270Gln		O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	Silent|Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom	p.L299|p.L299H	ENST00000598800.1	37	c.897|c.896		19																																																																																			DPP9	-	pfam_Peptidase_S9B		0.614	DPP9-026	NOVEL	basic	protein_coding	DPP9	HGNC	protein_coding	OTTHUMT00000459343.2	G|A			4702154|4702155	-1	no_errors	ENST00000262960	ensembl	human	known	70_37	silent|missense	SNP	0.003|0.000	C|T
ECHDC1	55862	genome.wustl.edu	37	6	127611068	127611068	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr6:127611068C>T	ENST00000531967.1	-	6	1373	c.870G>A	c.(868-870)tgG>tgA	p.W290*	ECHDC1_ENST00000528402.1_3'UTR|ECHDC1_ENST00000368291.2_3'UTR|ECHDC1_ENST00000474289.2_Nonsense_Mutation_p.W284*|ECHDC1_ENST00000454591.2_Nonsense_Mutation_p.W209*|ECHDC1_ENST00000488087.1_5'Flank|ECHDC1_ENST00000430841.2_Nonsense_Mutation_p.W284*|ECHDC1_ENST00000368289.2_3'UTR|ECHDC1_ENST00000454859.3_Nonsense_Mutation_p.W284*|ECHDC1_ENST00000309620.9_Nonsense_Mutation_p.W267*	NM_001139510.1	NP_001132982.1	Q9NTX5	ECHD1_HUMAN	enoyl CoA hydratase domain containing 1	290						cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxy-lyase activity (GO:0016831)|methylmalonyl-CoA decarboxylase activity (GO:0004492)	p.W290*(1)		large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		CAGGCCCACCCCAAACTGTTC	0.373																																																	1	Substitution - Nonsense(1)	cervix(1)											89.0	86.0	87.0					6																	127611068		1810	4074	5884	SO:0001587	stop_gained	55862			AK025796	CCDS34530.1, CCDS43504.1, CCDS47471.1, CCDS47472.1, CCDS55054.1	6q22.33	2011-12-12	2010-04-30		ENSG00000093144	ENSG00000093144			21489	protein-coding gene	gene with protein product		612136	"""enoyl Coenzyme A hydratase domain containing 1"""			22016388	Standard	NM_001002030		Approved	dJ351K20.2	uc003qax.3	Q9NTX5	OTTHUMG00000015523	ENST00000531967.1:c.870G>A	6.37:g.127611068C>T	ENSP00000436585:p.Trp290*		A6NFJ5|B7Z8S0|E9PEN7|E9PR31|F8W851|Q5TEF6|Q5TEF7|Q5TEG0|Q5TEG4|Q9NZ30|V9HW18	Nonsense_Mutation	SNP	pfam_Crotonase_core	p.W290*	ENST00000531967.1	37	c.870	CCDS47471.1	6	.	.	.	.	.	.	.	.	.	.	C	34	5.295076	0.95574	.	.	ENSG00000093144	ENST00000454859;ENST00000531967;ENST00000474289;ENST00000454591;ENST00000309620;ENST00000430841	.	.	.	5.22	4.36	0.52297	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	14.0748	0.64882	0.0:0.9269:0.0:0.0731	.	.	.	.	X	284;290;284;209;267;284	.	ENSP00000311115:W267X	W	-	3	0	ECHDC1	127652761	1.000000	0.71417	0.998000	0.56505	0.825000	0.46686	7.249000	0.78278	1.331000	0.45412	0.563000	0.77884	TGG	ECHDC1	-	NULL		0.373	ECHDC1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ECHDC1	HGNC	protein_coding	OTTHUMT00000042131.2	C			127611068	-1	no_errors	ENST00000531967	ensembl	human	known	70_37	nonsense	SNP	1.000	T
EPX	8288	genome.wustl.edu	37	17	56276426	56276426	+	Silent	SNP	C	C	A			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr17:56276426C>A	ENST00000225371.5	+	8	1256	c.1146C>A	c.(1144-1146)ccC>ccA	p.P382P		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	382					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	CGGAAACCCCCAAACTGGCAG	0.547																																																	0													76.0	66.0	69.0					17																	56276426		2203	4300	6503	SO:0001819	synonymous_variant	8288			M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.1146C>A	17.37:g.56276426C>A			Q4TVP3	Silent	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.P382	ENST00000225371.5	37	c.1146	CCDS11602.1	17																																																																																			EPX	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr		0.547	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPX	HGNC	protein_coding	OTTHUMT00000443367.1	C	NM_000502		56276426	+1	no_errors	ENST00000225371	ensembl	human	known	70_37	silent	SNP	0.848	A
AMER1	139285	genome.wustl.edu	37	X	63412990	63412990	+	Silent	SNP	G	G	C			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chrX:63412990G>C	ENST00000330258.3	-	2	449	c.177C>G	c.(175-177)ctC>ctG	p.L59L	AMER1_ENST00000374869.3_Silent_p.L59L|AMER1_ENST00000403336.1_Silent_p.L59L	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	59					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)|p.L59L(2)									TGCCACCAAAGAGTTTCATGG	0.522																																																	69	Whole gene deletion(67)|Substitution - coding silent(2)	kidney(65)|cervix(2)|ovary(1)|large_intestine(1)											182.0	149.0	160.0					X																	63412990		2203	4300	6503	SO:0001819	synonymous_variant	139285			AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.177C>G	X.37:g.63412990G>C			A2IB86|Q8N885	Silent	SNP	pfam_Uncharacterised_FAM123	p.L59	ENST00000330258.3	37	c.177	CCDS14377.2	X																																																																																			FAM123B	-	NULL		0.522	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM123B	HGNC	protein_coding	OTTHUMT00000316584.1	G	NM_152424		63412990	-1	no_errors	ENST00000330258	ensembl	human	known	70_37	silent	SNP	0.613	C
FAM208B	54906	genome.wustl.edu	37	10	5789975	5789976	+	Frame_Shift_Ins	INS	-	-	C	rs374137069|rs3082216	byFrequency	TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr10:5789975_5789976insC	ENST00000328090.5	+	15	5216_5217	c.4591_4592insC	c.(4591-4593)gctfs	p.A1531fs		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1531																	GCCTGCCTCAGCTGCCAAATGC	0.421																																																	0										419,3291		19,381,1455						-3.1	0.0		dbSNP_131	58	16,7930		0,16,3957	no	frameshift	FAM208B	NM_017782.4		19,397,5412	A1A1,A1R,RR		0.2014,11.2938,3.732				435,11221				SO:0001589	frameshift_variant	54906			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.4592dupC	10.37:g.5789976_5789976dupC	ENSP00000328426:p.Ala1531fs		Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Frame_Shift_Ins	INS	pfam_DUF3715,pfam_DUF3699	p.A1532fs	ENST00000328090.5	37	c.4591_4592	CCDS41485.1	10																																																																																			FAM208B	-	NULL		0.421	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM208B	HGNC	protein_coding	OTTHUMT00000046571.2	-	NM_017782		5789976	+1	no_errors	ENST00000328090	ensembl	human	known	70_37	frame_shift_ins	INS	0.000:0.000	C
FGFR1OP2	26127	genome.wustl.edu	37	12	27116335	27116335	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr12:27116335G>A	ENST00000229395.3	+	6	913	c.571G>A	c.(571-573)Gaa>Aaa	p.E191K	FGFR1OP2_ENST00000327214.5_Missense_Mutation_p.E153K	NM_015633.2	NP_056448.1	Q9NVK5	FGOP2_HUMAN	FGFR1 oncogene partner 2	191					wound healing (GO:0042060)	cytosol (GO:0005829)		p.E191K(1)		cervix(1)|large_intestine(4)|lung(1)|prostate(2)	8	Colorectal(261;0.0847)					GAAAGCCATTGAAATTGACGA	0.378																																																	1	Substitution - Missense(1)	cervix(1)											84.0	78.0	80.0					12																	27116335		2203	4300	6503	SO:0001583	missense	26127			AF161472	CCDS8709.1, CCDS53766.1, CCDS53767.1	12p12.1	2014-01-28			ENSG00000111790	ENSG00000111790			23098	protein-coding gene	gene with protein product		608858				15034873	Standard	NM_015633		Approved	DKFZp564O1863	uc001rhm.3	Q9NVK5		ENST00000229395.3:c.571G>A	12.37:g.27116335G>A	ENSP00000229395:p.Glu191Lys		Q6R955|Q8N5L7|Q9P034|Q9UFK8	Missense_Mutation	SNP	pfam_SIKE,superfamily_DNA-bd_dom_put	p.E191K	ENST00000229395.3	37	c.571	CCDS8709.1	12	.	.	.	.	.	.	.	.	.	.	.	18.00	3.524608	0.64747	.	.	ENSG00000111790	ENST00000229395;ENST00000327214	.	.	.	5.22	5.22	0.72569	.	0.092128	0.85682	D	0.000000	T	0.59004	0.2162	L	0.47190	1.495	0.80722	D	1	B;B	0.23185	0.081;0.031	B;B	0.25614	0.046;0.062	T	0.52859	-0.8519	9	0.28530	T	0.3	-29.5294	19.6699	0.95907	0.0:0.0:1.0:0.0	.	153;191	Q9NVK5-2;Q9NVK5	.;FGOP2_HUMAN	K	191;153	.	ENSP00000229395:E191K	E	+	1	0	FGFR1OP2	27007602	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.971000	0.93419	2.817000	0.96982	0.563000	0.77884	GAA	FGFR1OP2	-	pfam_SIKE,superfamily_DNA-bd_dom_put		0.378	FGFR1OP2-001	KNOWN	basic|CCDS	protein_coding	FGFR1OP2	HGNC	protein_coding	OTTHUMT00000402961.1	G	NM_015633		27116335	+1	no_errors	ENST00000229395	ensembl	human	known	70_37	missense	SNP	1.000	A
FOXC2	2303	genome.wustl.edu	37	16	86602295	86602295	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr16:86602295G>A	ENST00000320354.4	+	1	1439	c.1354G>A	c.(1354-1356)Gag>Aag	p.E452K	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	452					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|embryonic viscerocranium morphogenesis (GO:0048703)|glomerular endothelium development (GO:0072011)|glomerular mesangial cell development (GO:0072144)|glomerular visceral epithelial cell differentiation (GO:0072112)|heart development (GO:0007507)|insulin receptor signaling pathway (GO:0008286)|lymphangiogenesis (GO:0001946)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|paraxial mesodermal cell fate commitment (GO:0048343)|patterning of blood vessels (GO:0001569)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular wound healing (GO:0035470)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|response to hormone (GO:0009725)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.E452K(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						CAACGTGCGGGAGATGTTCAA	0.652									Late-onset Hereditary Lymphedema																																								1	Substitution - Missense(1)	cervix(1)											34.0	34.0	34.0					16																	86602295		2193	4285	6478	SO:0001583	missense	2303	Familial Cancer Database	Hereditary Lymphedema type II, Meige Lymphedema	Y08223	CCDS10958.1	16q24.1	2008-04-10			ENSG00000176692	ENSG00000176692		"""Forkhead boxes"""	3801	protein-coding gene	gene with protein product		602402		FKHL14		9169153, 8674414	Standard	NM_005251		Approved	MFH-1	uc002fjq.3	Q99958	OTTHUMG00000137652	ENST00000320354.4:c.1354G>A	16.37:g.86602295G>A	ENSP00000326371:p.Glu452Lys		C6KMR9|Q14DA6	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.E452K	ENST00000320354.4	37	c.1354	CCDS10958.1	16	.	.	.	.	.	.	.	.	.	.	G	23.7	4.450053	0.84101	.	.	ENSG00000176692	ENST00000320354	D	0.82344	-1.6	4.35	4.35	0.52113	.	2.127530	0.02239	U	0.065626	D	0.89763	0.6809	L	0.39898	1.24	0.54753	D	0.999989	D	0.63880	0.993	D	0.72625	0.978	T	0.77955	-0.2393	10	0.87932	D	0	.	15.5954	0.76574	0.0:0.0:1.0:0.0	.	452	Q99958	FOXC2_HUMAN	K	452	ENSP00000326371:E452K	ENSP00000326371:E452K	E	+	1	0	FOXC2	85159796	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	6.755000	0.74914	2.223000	0.72356	0.462000	0.41574	GAG	FOXC2	-	NULL		0.652	FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXC2	HGNC	protein_coding	OTTHUMT00000269104.2	G	NM_005251		86602295	+1	no_errors	ENST00000320354	ensembl	human	known	70_37	missense	SNP	1.000	A
GABRB3	2562	genome.wustl.edu	37	15	27017880	27017880	+	Silent	SNP	C	C	T			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr15:27017880C>T	ENST00000311550.5	-	2	231	c.120G>A	c.(118-120)acG>acA	p.T40T	GABRB3_ENST00000541819.2_Silent_p.T96T|GABRB3_ENST00000557641.1_5'UTR|GABRB3_ENST00000299267.4_Silent_p.T40T	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	40					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)	p.T40T(2)|p.T96T(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|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)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GCTTGTCCACCGTCTCCTTCA	0.667																																																	3	Substitution - coding silent(3)	cervix(3)											55.0	49.0	51.0					15																	27017880		2202	4300	6502	SO:0001819	synonymous_variant	2562				CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.120G>A	15.37:g.27017880C>T			B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Silent	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.T40	ENST00000311550.5	37	c.120	CCDS10019.1	15																																																																																			GABRB3	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel		0.667	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRB3	HGNC	protein_coding	OTTHUMT00000251352.2	C			27017880	-1	no_errors	ENST00000299267	ensembl	human	known	70_37	silent	SNP	0.993	T
GFRA3	2676	genome.wustl.edu	37	5	137589024	137589024	+	Silent	SNP	G	G	C			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr5:137589024G>C	ENST00000274721.3	-	7	1311	c.1065C>G	c.(1063-1065)ctC>ctG	p.L355L	GFRA3_ENST00000378362.3_Silent_p.L324L	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	355					nervous system development (GO:0007399)|neuron migration (GO:0001764)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|receptor binding (GO:0005102)	p.L355L(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCTGGGAGAAGAGTTGGCTGT	0.572																																																	1	Substitution - coding silent(1)	cervix(1)											82.0	64.0	70.0					5																	137589024		2202	4299	6501	SO:0001819	synonymous_variant	2676			AY358997	CCDS4201.1	5q31.1-q31.3	2008-02-05			ENSG00000146013	ENSG00000146013			4245	protein-coding gene	gene with protein product		605710				9407096	Standard	NM_001496		Approved	GFRa-3	uc003lcn.3	O60609	OTTHUMG00000129200	ENST00000274721.3:c.1065C>G	5.37:g.137589024G>C			B2RA36|B4DMY9|Q6UW20|Q8IUZ2	Silent	SNP	pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt,prints_GDNF_rcpt_A3	p.L355	ENST00000274721.3	37	c.1065	CCDS4201.1	5																																																																																			GFRA3	-	prints_GDNF_rcpt_A3		0.572	GFRA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GFRA3	HGNC	protein_coding	OTTHUMT00000251277.1	G	NM_001496		137589024	-1	no_errors	ENST00000274721	ensembl	human	known	70_37	silent	SNP	0.807	C
HEG1	57493	genome.wustl.edu	37	3	124732410	124732410	+	Silent	SNP	A	A	G			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr3:124732410A>G	ENST00000311127.4	-	6	2080	c.2013T>C	c.(2011-2013)tcT>tcC	p.S671S	HEG1_ENST00000477536.1_5'UTR	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	671	Ser-rich.				cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GAGGCCCTgaagaagaagaag	0.473																																																	0													46.0	52.0	50.0					3																	124732410		2119	4239	6358	SO:0001819	synonymous_variant	57493			AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.2013T>C	3.37:g.124732410A>G			Q6NX66|Q8NC40|Q9BSV0	Silent	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom	p.S671	ENST00000311127.4	37	c.2013	CCDS46898.1	3																																																																																			HEG1	-	NULL		0.473	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEG1	HGNC	protein_coding	OTTHUMT00000355732.2	A	XM_087386		124732410	-1	no_errors	ENST00000311127	ensembl	human	known	70_37	silent	SNP	0.018	G
HERC2	8924	genome.wustl.edu	37	15	28517458	28517458	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr15:28517458G>A	ENST00000261609.7	-	9	1094	c.986C>T	c.(985-987)tCc>tTc	p.S329F		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.S329F(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCCCTGGGCGGAACGCTCATT	0.542																																																	1	Substitution - Missense(1)	cervix(1)											67.0	53.0	58.0					15																	28517458		2203	4300	6503	SO:0001583	missense	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.986C>T	15.37:g.28517458G>A	ENSP00000261609:p.Ser329Phe			Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens	p.S329F	ENST00000261609.7	37	c.986	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	G	25.2	4.616055	0.87359	.	.	ENSG00000128731	ENST00000261609	T	0.39229	1.09	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.46756	0.1409	L	0.40543	1.245	0.80722	D	1	P	0.44578	0.838	P	0.47470	0.548	T	0.34675	-0.9819	10	0.46703	T	0.11	.	19.5567	0.95351	0.0:0.0:1.0:0.0	.	329	O95714	HERC2_HUMAN	F	329	ENSP00000261609:S329F	ENSP00000261609:S329F	S	-	2	0	HERC2	26191053	1.000000	0.71417	0.460000	0.27093	0.980000	0.70556	9.794000	0.99096	2.641000	0.89580	0.650000	0.86243	TCC	HERC2	-	NULL		0.542	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	G	NM_004667		28517458	-1	no_errors	ENST00000261609	ensembl	human	known	70_37	missense	SNP	0.997	A
HGFAC	3083	genome.wustl.edu	37	4	3444814	3444814	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr4:3444814C>G	ENST00000382774.3	+	3	451	c.336C>G	c.(334-336)ttC>ttG	p.F112L	HGFAC_ENST00000511533.1_Missense_Mutation_p.F112L	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	112	Fibronectin type-II. {ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.F112L(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GGTTCCCCTTCCGCTACGGGG	0.716																																																	1	Substitution - Missense(1)	cervix(1)											17.0	22.0	20.0					4																	3444814		2195	4289	6484	SO:0001583	missense	3083			D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.336C>G	4.37:g.3444814C>G	ENSP00000372224:p.Phe112Leu		Q14726|Q2M1W7|Q53X47	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1_S6,pirsf_Coagulation_fac_XIIa/HGFA,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.F112L	ENST00000382774.3	37	c.336	CCDS3369.1	4	.	.	.	.	.	.	.	.	.	.	C	16.44	3.123157	0.56613	.	.	ENSG00000109758	ENST00000382774;ENST00000511533	T;T	0.76968	-1.06;-1.06	3.16	2.17	0.27698	Fibronectin, type II, collagen-binding (5);Kringle-like fold (1);	0.325292	0.27802	U	0.017788	D	0.87787	0.6265	M	0.93507	3.425	0.27386	N	0.955284	P;D	0.56035	0.865;0.974	P;D	0.65573	0.565;0.936	T	0.77838	-0.2439	10	0.46703	T	0.11	.	7.3589	0.26735	0.0:0.7255:0.2745:0.0	.	112;112	D6RAR4;Q04756	.;HGFA_HUMAN	L	112	ENSP00000372224:F112L;ENSP00000421801:F112L	ENSP00000372224:F112L	F	+	3	2	HGFAC	3414612	0.022000	0.18835	1.000000	0.80357	0.334000	0.28698	1.598000	0.36740	1.709000	0.51313	0.306000	0.20318	TTC	HGFAC	-	pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,pirsf_Coagulation_fac_XIIa/HGFA,pfscan_FN_type2_col-bd		0.716	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGFAC	HGNC	protein_coding	OTTHUMT00000206607.3	C			3444814	+1	no_errors	ENST00000382774	ensembl	human	known	70_37	missense	SNP	0.990	G
HIST1H2BL	8340	genome.wustl.edu	37	6	27775463	27775463	+	Silent	SNP	G	G	T			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr6:27775463G>T	ENST00000377401.2	-	1	246	c.222C>A	c.(220-222)atC>atA	p.I74I	HIST1H2AI_ENST00000358739.3_5'Flank|HIST1H3H_ENST00000369163.2_5'Flank	NM_003519.3	NP_003510.1	Q99880	H2B1L_HUMAN	histone cluster 1, H2bl	74					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.I74I(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						CCTCGCTTGCGATGCGCTCGA	0.612																																																	1	Substitution - coding silent(1)	cervix(1)											152.0	144.0	147.0					6																	27775463		2203	4300	6503	SO:0001819	synonymous_variant	8340			Z83740	CCDS4625.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000185130	ENSG00000185130		"""Histones / Replication-dependent"""	4748	protein-coding gene	gene with protein product		602800	"""H2B histone family, member C"", ""histone 1, H2bl"""	H2BFC		9439656, 12408966	Standard	NM_003519		Approved	H2B/c, dJ97D16.4	uc003njl.3	Q99880	OTTHUMG00000014485	ENST00000377401.2:c.222C>A	6.37:g.27775463G>T			B2R5A3|Q52LW9	Silent	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.I74	ENST00000377401.2	37	c.222	CCDS4625.1	6																																																																																			HIST1H2BL	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B		0.612	HIST1H2BL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BL	HGNC	protein_coding	OTTHUMT00000040153.1	G	NM_003519		27775463	-1	no_errors	ENST00000377401	ensembl	human	known	70_37	silent	SNP	1.000	T
HOMER2	9455	genome.wustl.edu	37	15	83533003	83533003	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr15:83533003C>G	ENST00000304231.8	-	4	495	c.303G>C	c.(301-303)gaG>gaC	p.E101D	HOMER2_ENST00000426485.1_Missense_Mutation_p.E101D|HOMER2_ENST00000450735.2_Missense_Mutation_p.E101D|HOMER2_ENST00000399166.2_Missense_Mutation_p.E101D	NM_199330.2	NP_955362.1	Q9NSB8	HOME2_HUMAN	homer homolog 2 (Drosophila)	101	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				behavioral response to cocaine (GO:0048148)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|chemical homeostasis within a tissue (GO:0048875)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.E101D(1)|p.E164D(1)		cervix(1)|endometrium(2)|lung(6)	9						CCTGGAATTTCTCTGCAAACT	0.383																																																	2	Substitution - Missense(2)	cervix(2)											112.0	104.0	107.0					15																	83533003		1850	4099	5949	SO:0001583	missense	9455			AF093264	CCDS45334.1, CCDS45336.1	15q24.3	2008-02-05				ENSG00000103942			17513	protein-coding gene	gene with protein product		604799				9808459, 9808458	Standard	NM_199330		Approved	CPD, Cupidin, Vesl-2, HOMER-2B, HOMER-2, HOMER-2A	uc002bjg.3	Q9NSB8		ENST00000304231.8:c.303G>C	15.37:g.83533003C>G	ENSP00000305632:p.Glu101Asp		O95269|O95349|Q9NSB6|Q9NSB7|Q9UNT7	Missense_Mutation	SNP	pfam_EVH1,smart_EVH1,pfscan_EVH1	p.E101D	ENST00000304231.8	37	c.303	CCDS45334.1	15	.	.	.	.	.	.	.	.	.	.	C	13.85	2.359442	0.41801	.	.	ENSG00000103942	ENST00000304231;ENST00000450735;ENST00000426485;ENST00000399166	D;D;D;D	0.98792	-5.14;-5.14;-5.14;-5.14	5.47	3.6	0.41247	EVH1 (3);Pleckstrin homology-type (1);	0.049351	0.85682	D	0.000000	D	0.95172	0.8435	L	0.28192	0.835	0.44927	D	0.997942	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.09377	0.002;0.002;0.002;0.004	D	0.90725	0.4638	10	0.41790	T	0.15	.	6.9951	0.24779	0.0:0.7064:0.1418:0.1518	.	101;101;101;101	F8W826;E9PAZ1;Q9NSB8-2;Q9NSB8	.;.;.;HOME2_HUMAN	D	101	ENSP00000305632:E101D;ENSP00000407634:E101D;ENSP00000394293:E101D;ENSP00000382119:E101D	ENSP00000305632:E101D	E	-	3	2	HOMER2	81330057	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.968000	0.40500	0.692000	0.31613	-0.136000	0.14681	GAG	HOMER2	-	pfam_EVH1,smart_EVH1,pfscan_EVH1		0.383	HOMER2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HOMER2	HGNC	protein_coding	OTTHUMT00000418689.1	C			83533003	-1	no_errors	ENST00000304231	ensembl	human	known	70_37	missense	SNP	1.000	G
HOXA4	3201	genome.wustl.edu	37	7	27169068	27169068	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr7:27169068C>T	ENST00000360046.5	-	2	804	c.739G>A	c.(739-741)Gag>Aag	p.E247K	HOXA3_ENST00000521401.1_Intron|HOXA-AS3_ENST00000518848.1_RNA|HOXA4_ENST00000428284.2_Missense_Mutation_p.E247K|HOXA-AS2_ENST00000517550.1_RNA|HOXA-AS2_ENST00000521687.1_RNA|HOXA-AS2_ENST00000521159.1_RNA|HOXA3_ENST00000317201.2_5'Flank|RP1-170O19.22_ENST00000467897.2_RNA	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	247					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E247K(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						TGGGCGATCTCGATGCGGCGC	0.577																																																	1	Substitution - Missense(1)	cervix(1)											180.0	154.0	163.0					7																	27169068		2203	4300	6503	SO:0001583	missense	3201				CCDS5405.1	7p15.2	2011-06-20	2005-12-22		ENSG00000197576	ENSG00000197576		"""Homeoboxes / ANTP class : HOXL subclass"""	5105	protein-coding gene	gene with protein product		142953	"""homeo box A4"""	HOX1D, HOX1		1973146, 1358459	Standard	NM_002141		Approved		uc003sym.4	Q00056	OTTHUMG00000023213	ENST00000360046.5:c.739G>A	7.37:g.27169068C>T	ENSP00000353151:p.Glu247Lys		A4D180|O43366	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.E247K	ENST00000360046.5	37	c.739	CCDS5405.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.196607|5.196607	0.94960|0.94960	.|.	.|.	ENSG00000197576|ENSG00000197576	ENST00000360046;ENST00000428284|ENST00000511914	D;D|.	0.96522|.	-4.04;-4.04|.	5.29|5.29	5.29|5.29	0.74685|0.74685	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);|.	0.083044|.	0.45606|.	D|.	0.000347|.	T|T	0.72771|0.72771	0.3502|0.3502	L|L	0.60845|0.60845	1.875|1.875	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.70494|0.70494	-0.4856|-0.4856	10|5	0.87932|.	D|.	0|.	.|.	18.9816|18.9816	0.92757|0.92757	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	247|.	Q00056|.	HXA4_HUMAN|.	K|Q	247|66	ENSP00000353151:E247K;ENSP00000408845:E247K|.	ENSP00000353151:E247K|.	E|R	-|-	1|2	0|0	HOXA4|HOXA4	27135593|27135593	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.728000|7.728000	0.84847|0.84847	2.485000|2.485000	0.83878|0.83878	0.555000|0.555000	0.69702|0.69702	GAG|CGA	HOXA4	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa		0.577	HOXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA4	HGNC	protein_coding	OTTHUMT00000059534.4	C			27169068	-1	no_errors	ENST00000360046	ensembl	human	known	70_37	missense	SNP	1.000	T
HSD17B11	51170	genome.wustl.edu	37	4	88258413	88258413	+	3'UTR	SNP	C	C	T			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr4:88258413C>T	ENST00000358290.4	-	0	1233				HSD17B11_ENST00000507518.1_5'UTR|RP11-529H2.2_ENST00000508163.1_RNA	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11						androgen catabolic process (GO:0006710)|steroid biosynthetic process (GO:0006694)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|lipid particle (GO:0005811)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|steroid dehydrogenase activity (GO:0016229)			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		AATCAGTTTTCAGAAAACTAG	0.323																																																	0													89.0	86.0	87.0					4																	88258413		2202	4299	6501	SO:0001624	3_prime_UTR_variant	51170			AF126780	CCDS3619.1	4q22.1	2011-09-20	2006-11-22	2006-11-22	ENSG00000198189	ENSG00000198189	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	22960	protein-coding gene	gene with protein product	"""retinal short-chain dehydrogenase/reductase 2"", ""short chain dehydrogenase/reductase family 16C, member 2"""	612831	"""dehydrogenase/reductase (SDR family) member 8"""	DHRS8		11165019, 12697717, 19027726	Standard	XM_006714232		Approved	RetSDR2, 17-BETA-HSD11, 17-BETA-HSDXI, PAN1B, SDR16C2	uc003hqp.2	Q8NBQ5	OTTHUMG00000130594	ENST00000358290.4:c.*15G>A	4.37:g.88258413C>T			Q96HF6|Q9UKU4	RNA	SNP	-	NULL	ENST00000358290.4	37	NULL	CCDS3619.1	4																																																																																			HSD17B11	-	-		0.323	HSD17B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B11	HGNC	protein_coding	OTTHUMT00000253041.1	C	NM_016245		88258413	-1	no_errors	ENST00000502576	ensembl	human	known	70_37	rna	SNP	0.006	T
IARS2	55699	genome.wustl.edu	37	1	220269459	220269459	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr1:220269459C>A	ENST00000302637.5	+	2	385	c.281C>A	c.(280-282)tCa>tAa	p.S94*	IARS2_ENST00000366922.1_Nonsense_Mutation_p.S22*	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	94					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)	p.S94*(1)		NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	TGTGGATTTTCAGAACTTTAT	0.333																																																	1	Substitution - Nonsense(1)	cervix(1)											52.0	52.0	52.0					1																	220269459		2203	4300	6503	SO:0001587	stop_gained	55699			AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	29685	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 2, mitochondrial"""	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.281C>A	1.37:g.220269459C>A	ENSP00000303279:p.Ser94*		B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Nonsense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_Znf_DNA_glyclase/IsotRNA_synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase	p.S94*	ENST00000302637.5	37	c.281	CCDS1523.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.335718	0.98221	.	.	ENSG00000067704	ENST00000366922;ENST00000302637	.	.	.	5.09	3.21	0.36854	.	0.528567	0.20944	N	0.082880	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-6.3548	9.1455	0.36930	0.0:0.7061:0.0:0.2939	.	.	.	.	X	22;94	.	ENSP00000303279:S94X	S	+	2	0	IARS2	218336082	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.779000	0.47734	0.656000	0.30886	0.557000	0.71058	TCA	IARS2	-	tigrfam_Ile-tRNA-ligase		0.333	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	IARS2	HGNC	protein_coding		C	NM_018060		220269459	+1	no_errors	ENST00000302637	ensembl	human	known	70_37	nonsense	SNP	0.997	A
IARS2	55699	genome.wustl.edu	37	1	220269471	220269471	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr1:220269471C>T	ENST00000302637.5	+	2	397	c.293C>T	c.(292-294)tCa>tTa	p.S98L	IARS2_ENST00000366922.1_Missense_Mutation_p.S26L	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	98					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)	p.S98L(1)		NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	GAACTTTATTCATGGCAAAGA	0.323																																																	1	Substitution - Missense(1)	cervix(1)											63.0	62.0	63.0					1																	220269471		2203	4299	6502	SO:0001583	missense	55699			AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	29685	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 2, mitochondrial"""	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.293C>T	1.37:g.220269471C>T	ENSP00000303279:p.Ser98Leu		B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_Znf_DNA_glyclase/IsotRNA_synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase	p.S98L	ENST00000302637.5	37	c.293	CCDS1523.1	1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.103851	0.76983	.	.	ENSG00000067704	ENST00000366922;ENST00000302637	T;T	0.44083	0.93;0.93	5.09	5.09	0.68999	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.427595	0.26065	N	0.026559	T	0.54447	0.1859	M	0.62723	1.935	0.46437	D	0.99904	D	0.53462	0.96	P	0.52343	0.696	T	0.51957	-0.8639	10	0.35671	T	0.21	-20.1222	18.8283	0.92127	0.0:1.0:0.0:0.0	.	98	Q9NSE4	SYIM_HUMAN	L	26;98	ENSP00000355889:S26L;ENSP00000303279:S98L	ENSP00000303279:S98L	S	+	2	0	IARS2	218336094	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.385000	0.59613	2.522000	0.85027	0.557000	0.71058	TCA	IARS2	-	tigrfam_Ile-tRNA-ligase		0.323	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	IARS2	HGNC	protein_coding		C	NM_018060		220269471	+1	no_errors	ENST00000302637	ensembl	human	known	70_37	missense	SNP	1.000	T
INO80D	54891	genome.wustl.edu	37	2	206911292	206911292	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr2:206911292C>G	ENST00000403263.1	-	5	1413	c.1009G>C	c.(1009-1011)Gag>Cag	p.E337Q		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	337					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.E337Q(1)|p.E232Q(1)		NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						GAGGCCTGCTCTGAGTCCTCT	0.418																																																	2	Substitution - Missense(2)	cervix(2)											78.0	79.0	79.0					2																	206911292		1900	4115	6015	SO:0001583	missense	54891				CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"""INO80 complex subunits"""	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.1009G>C	2.37:g.206911292C>G	ENSP00000384198:p.Glu337Gln		B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Missense_Mutation	SNP	NULL	p.E337Q	ENST00000403263.1	37	c.1009	CCDS46500.1	2	.	.	.	.	.	.	.	.	.	.	C	16.50	3.140573	0.56936	.	.	ENSG00000114933	ENST00000403263;ENST00000233270;ENST00000424117	T;T	0.55930	0.49;0.49	5.54	5.54	0.83059	.	0.219645	0.47852	D	0.000217	T	0.42921	0.1224	N	0.24115	0.695	0.37004	D	0.8954	B	0.20671	0.047	B	0.21151	0.033	T	0.42849	-0.9427	10	0.49607	T	0.09	.	17.6519	0.88167	0.0:1.0:0.0:0.0	.	337	Q53TQ3-2	.	Q	337;337;232	ENSP00000384198:E337Q;ENSP00000402369:E232Q	ENSP00000233270:E337Q	E	-	1	0	INO80D	206619537	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.631000	0.61304	2.619000	0.88677	0.655000	0.94253	GAG	INO80D	-	NULL		0.418	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80D	HGNC	protein_coding	OTTHUMT00000336459.1	C	NM_017759		206911292	-1	no_errors	ENST00000403263	ensembl	human	known	70_37	missense	SNP	1.000	G
IRF2BP1	26145	genome.wustl.edu	37	19	46388968	46388968	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr19:46388968C>G	ENST00000302165.3	-	1	408	c.65G>C	c.(64-66)tGg>tCg	p.W22S		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	22					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)	p.W22S(1)		cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		CACCATGGCCCACGGCATCTT	0.706																																																	1	Substitution - Missense(1)	cervix(1)											19.0	18.0	18.0					19																	46388968		2178	4266	6444	SO:0001583	missense	26145			AY278022	CCDS12678.1	19q13.32	2008-02-05							21728	protein-coding gene	gene with protein product		615331				12799427	Standard	NM_015649		Approved	DKFZP434M154, IRF-2BP1	uc002pds.1	Q8IU81		ENST00000302165.3:c.65G>C	19.37:g.46388968C>G	ENSP00000307265:p.Trp22Ser		Q53EL7|Q6DC95|Q9BRZ9|Q9Y4P4	Missense_Mutation	SNP	pfam_Interferon_reg_fac2-bd1_2_Znf	p.W22S	ENST00000302165.3	37	c.65	CCDS12678.1	19	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937021	0.73557	.	.	ENSG00000170604	ENST00000302165	T	0.67345	-0.26	3.6	3.6	0.41247	Interferon regulatory factor 2-binding protein 1 &amp (1); 2, zinc finger (1);	0.000000	0.64402	U	0.000011	T	0.79370	0.4434	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82240	-0.0555	10	0.87932	D	0	.	13.1224	0.59334	0.0:1.0:0.0:0.0	.	22	Q8IU81	I2BP1_HUMAN	S	22	ENSP00000307265:W22S	ENSP00000307265:W22S	W	-	2	0	IRF2BP1	51080808	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.060000	0.64312	2.005000	0.58758	0.462000	0.41574	TGG	IRF2BP1	-	pfam_Interferon_reg_fac2-bd1_2_Znf		0.706	IRF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF2BP1	HGNC	protein_coding	OTTHUMT00000461683.1	C	NM_015649		46388968	-1	no_errors	ENST00000302165	ensembl	human	known	70_37	missense	SNP	1.000	G
LCT	3938	genome.wustl.edu	37	2	136566629	136566629	+	Silent	SNP	G	G	A			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr2:136566629G>A	ENST00000264162.2	-	8	3298	c.3288C>T	c.(3286-3288)gcC>gcT	p.A1096A	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1096	4 X approximate repeats.			A -> T (in Ref. 1; CAA30801). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.A1096A(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	CTTTGATGACGGCGTGGGCTA	0.557																																																	1	Substitution - coding silent(1)	cervix(1)											53.0	56.0	55.0					2																	136566629		2203	4300	6503	SO:0001819	synonymous_variant	3938			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.3288C>T	2.37:g.136566629G>A			Q4ZG58	Silent	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.A1096	ENST00000264162.2	37	c.3288	CCDS2178.1	2																																																																																			LCT	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF		0.557	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCT	HGNC	protein_coding	OTTHUMT00000254657.1	G	NM_002299		136566629	-1	no_errors	ENST00000264162	ensembl	human	known	70_37	silent	SNP	0.015	A
LDLRAD4	753	genome.wustl.edu	37	18	13612692	13612692	+	Intron	SNP	G	G	A			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr18:13612692G>A	ENST00000359446.5	+	4	649				LDLRAD4_ENST00000585931.1_Intron|LDLRAD4_ENST00000361205.4_Intron|MIR4526_ENST00000583168.1_RNA|LDLRAD4_ENST00000586765.1_5'UTR|LDLRAD4_ENST00000590308.1_3'UTR|LDLRAD4_ENST00000399848.3_Intron|LDLRAD4_ENST00000587757.1_5'UTR	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4						negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	early endosome membrane (GO:0031901)|endosome (GO:0005768)|integral component of membrane (GO:0016021)	R-SMAD binding (GO:0070412)										CCCACTTGCAGAGGACCTGAT	0.507																																																	0													100.0	78.0	85.0					18																	13612692		2203	4300	6503	SO:0001627	intron_variant	753			AF009424, AF009428	CCDS32793.1, CCDS32794.1, CCDS32795.1, CCDS42415.1, CCDS62392.1, CCDS62393.1	18p11.21	2014-04-29	2012-10-24	2012-10-24	ENSG00000168675	ENSG00000168675			1224	protein-coding gene	gene with protein product	"""clone 22"""	606571	"""chromosome 18 open reading frame 1"""	C18orf1		9479497, 9129712, 24627487	Standard	NM_181482		Approved		uc002ksb.3	O15165	OTTHUMG00000181925	ENST00000359446.5:c.182-8424G>A	18.37:g.13612692G>A			B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	RNA	SNP	-	NULL	ENST00000359446.5	37	NULL	CCDS32793.1	18																																																																																			LDLRAD4	-	-		0.507	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LDLRAD4	HGNC	protein_coding	OTTHUMT00000458326.1	G	NM_181481		13612692	+1	no_errors	ENST00000590308	ensembl	human	known	70_37	rna	SNP	0.210	A
LDLRAD4	753	genome.wustl.edu	37	18	13612736	13612736	+	Intron	SNP	G	G	A	rs35814252		TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr18:13612736G>A	ENST00000359446.5	+	4	649				LDLRAD4_ENST00000585931.1_Intron|LDLRAD4_ENST00000361205.4_Intron|MIR4526_ENST00000583168.1_RNA|LDLRAD4_ENST00000586765.1_Silent_p.L11L|LDLRAD4_ENST00000590308.1_3'UTR|LDLRAD4_ENST00000399848.3_Intron|LDLRAD4_ENST00000587757.1_Silent_p.L11L	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4						negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	early endosome membrane (GO:0031901)|endosome (GO:0005768)|integral component of membrane (GO:0016021)	R-SMAD binding (GO:0070412)	p.L11L(1)									ACAGCACACTGAAGGAGGCTC	0.488																																																	1	Substitution - coding silent(1)	cervix(1)											121.0	96.0	105.0					18																	13612736		2203	4300	6503	SO:0001627	intron_variant	753			AF009424, AF009428	CCDS32793.1, CCDS32794.1, CCDS32795.1, CCDS42415.1, CCDS62392.1, CCDS62393.1	18p11.21	2014-04-29	2012-10-24	2012-10-24	ENSG00000168675	ENSG00000168675			1224	protein-coding gene	gene with protein product	"""clone 22"""	606571	"""chromosome 18 open reading frame 1"""	C18orf1		9479497, 9129712, 24627487	Standard	NM_181482		Approved		uc002ksb.3	O15165	OTTHUMG00000181925	ENST00000359446.5:c.182-8380G>A	18.37:g.13612736G>A			B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	Silent	SNP	NULL	p.L11	ENST00000359446.5	37	c.33	CCDS32793.1	18																																																																																			LDLRAD4	-	NULL		0.488	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LDLRAD4	HGNC	protein_coding	OTTHUMT00000458326.1	G	NM_181481		13612736	+1	no_errors	ENST00000587757	ensembl	human	known	70_37	silent	SNP	1.000	A
LGALS12	85329	genome.wustl.edu	37	11	63276260	63276260	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr11:63276260G>A	ENST00000394618.3	+	3	526	c.235G>A	c.(235-237)Gac>Aac	p.D79N	LGALS12_ENST00000425950.2_Missense_Mutation_p.D18N|LGALS12_ENST00000255684.5_Missense_Mutation_p.D79N|LGALS12_ENST00000340246.5_Missense_Mutation_p.D80N|LGALS12_ENST00000415491.2_Missense_Mutation_p.D18N	NM_001142535.1|NM_033101.3	NP_001136007.1|NP_149092.2	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	79	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)	p.D79N(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						GTTTCAGGTGGACTTCCAGTG	0.587																																																	1	Substitution - Missense(1)	cervix(1)											75.0	73.0	74.0					11																	63276260		2201	4298	6499	SO:0001583	missense	85329			AF222695	CCDS8045.1, CCDS44633.1, CCDS44634.1, CCDS44635.1, CCDS53648.1	11q13	2011-08-04	2008-07-25		ENSG00000133317	ENSG00000133317		"""Lectins, galactoside-binding"""	15788	protein-coding gene	gene with protein product	"""galectin 12"""	606096				11283015, 11435439	Standard	NM_033101		Approved	GRIP1	uc001nxc.2	Q96DT0	OTTHUMG00000167807	ENST00000394618.3:c.235G>A	11.37:g.63276260G>A	ENSP00000378116:p.Asp79Asn		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD	p.D80N	ENST00000394618.3	37	c.238	CCDS8045.1	11	.	.	.	.	.	.	.	.	.	.	G	31	5.069234	0.93950	.	.	ENSG00000133317	ENST00000255684;ENST00000394618;ENST00000340246;ENST00000415491;ENST00000425950	T;T;T;T;T	0.11930	2.73;2.73;3.21;3.67;3.67	5.63	5.63	0.86233	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.64402	D	0.000006	T	0.20577	0.0495	N	0.20986	0.625	0.48830	D	0.999712	P;P;P;D	0.76494	0.794;0.938;0.504;0.999	P;P;B;D	0.75020	0.456;0.826;0.181;0.985	T	0.01114	-1.1447	10	0.02654	T	1	-41.3782	17.5502	0.87873	0.0:0.0:1.0:0.0	.	39;80;79;79	Q9NZ03;G5E970;Q96DT0-3;Q96DT0	.;.;.;LEG12_HUMAN	N	79;79;80;18;18	ENSP00000255684:D79N;ENSP00000378116:D79N;ENSP00000339374:D80N;ENSP00000394659:D18N;ENSP00000399093:D18N	ENSP00000255684:D79N	D	+	1	0	LGALS12	63032836	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.951000	0.63610	2.824000	0.97209	0.655000	0.94253	GAC	LGALS12	-	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD		0.587	LGALS12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LGALS12	HGNC	protein_coding	OTTHUMT00000396378.1	G	NM_033101		63276260	+1	no_errors	ENST00000340246	ensembl	human	known	70_37	missense	SNP	1.000	A
LYST	1130	genome.wustl.edu	37	1	235969198	235969198	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr1:235969198C>G	ENST00000389794.3	-	6	3412	c.3238G>C	c.(3238-3240)Gct>Cct	p.A1080P	LYST_ENST00000389793.2_Missense_Mutation_p.A1080P|LYST_ENST00000536965.1_Missense_Mutation_p.A1080P			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1080					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.A1080P(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GCTTCAGTAGCTGAAACTTCT	0.413																																																	1	Substitution - Missense(1)	cervix(1)											68.0	69.0	69.0					1																	235969198		2203	4300	6503	SO:0001583	missense	1130			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.3238G>C	1.37:g.235969198C>G	ENSP00000374444:p.Ala1080Pro		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A1080P	ENST00000389794.3	37	c.3238	CCDS31062.1	1	.	.	.	.	.	.	.	.	.	.	C	8.172	0.791907	0.16258	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.63255	-0.03;-0.03;1.12	5.12	1.09	0.20402	.	0.692091	0.15186	N	0.275854	T	0.51381	0.1671	L	0.44542	1.39	0.09310	N	1	P;B	0.52061	0.95;0.001	P;B	0.46885	0.53;0.004	T	0.37842	-0.9688	10	0.29301	T	0.29	.	4.253	0.10703	0.2441:0.4203:0.0:0.3356	.	1080;1080	Q99698-3;Q99698	.;LYST_HUMAN	P	1080	ENSP00000374444:A1080P;ENSP00000374443:A1080P;ENSP00000438315:A1080P	ENSP00000374443:A1080P	A	-	1	0	LYST	234035821	0.000000	0.05858	0.005000	0.12908	0.033000	0.12548	-0.278000	0.08490	0.325000	0.23359	0.563000	0.77884	GCT	LYST	-	superfamily_ARM-type_fold		0.413	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5	C			235969198	-1	no_errors	ENST00000389793	ensembl	human	known	70_37	missense	SNP	0.000	G
LYST	1130	genome.wustl.edu	37	1	235969573	235969573	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr1:235969573C>G	ENST00000389794.3	-	6	3037	c.2863G>C	c.(2863-2865)Gaa>Caa	p.E955Q	LYST_ENST00000389793.2_Missense_Mutation_p.E955Q|LYST_ENST00000536965.1_Missense_Mutation_p.E955Q			Q99698	LYST_HUMAN	lysosomal trafficking regulator	955					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.E955Q(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGCATATGTTCAGGAGAAGGC	0.458																																																	1	Substitution - Missense(1)	cervix(1)											105.0	100.0	102.0					1																	235969573		2203	4300	6503	SO:0001583	missense	1130			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.2863G>C	1.37:g.235969573C>G	ENSP00000374444:p.Glu955Gln		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E955Q	ENST00000389794.3	37	c.2863	CCDS31062.1	1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688655	0.68271	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.75938	-0.98;-0.98;0.16	5.6	2.5	0.30297	.	0.203360	0.50627	D	0.000114	T	0.72526	0.3471	M	0.64997	1.995	0.45025	D	0.998044	P;P	0.40083	0.702;0.698	B;B	0.43575	0.398;0.424	T	0.69837	-0.5037	10	0.56958	D	0.05	.	10.0278	0.42081	0.0:0.7675:0.0:0.2325	.	955;955	Q99698-3;Q99698	.;LYST_HUMAN	Q	955	ENSP00000374444:E955Q;ENSP00000374443:E955Q;ENSP00000438315:E955Q	ENSP00000374443:E955Q	E	-	1	0	LYST	234036196	0.994000	0.37717	0.004000	0.12327	0.783000	0.44284	3.190000	0.50973	0.223000	0.20920	0.655000	0.94253	GAA	LYST	-	superfamily_ARM-type_fold		0.458	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5	C			235969573	-1	no_errors	ENST00000389793	ensembl	human	known	70_37	missense	SNP	0.986	G
MAP3K4	4216	genome.wustl.edu	37	6	161470014	161470014	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr6:161470014C>T	ENST00000392142.4	+	3	858	c.710C>T	c.(709-711)tCa>tTa	p.S237L	MAP3K4_ENST00000366920.2_Missense_Mutation_p.S237L|MAP3K4_ENST00000366919.2_Missense_Mutation_p.S237L|MAP3K4_ENST00000348824.7_Missense_Mutation_p.S237L	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	237					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.S237L(2)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AAGCTTACCTCAGTCTCAAAG	0.433																																																	2	Substitution - Missense(2)	cervix(2)											41.0	41.0	41.0					6																	161470014		2203	4300	6503	SO:0001583	missense	4216			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.710C>T	6.37:g.161470014C>T	ENSP00000375986:p.Ser237Leu		A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S237L	ENST00000392142.4	37	c.710	CCDS34565.1	6	.	.	.	.	.	.	.	.	.	.	C	35	5.430729	0.96150	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.75704	-0.95;-0.96;-0.96;-0.95	6.14	6.14	0.99180	.	0.000000	0.64402	D	0.000001	D	0.83018	0.5163	M	0.68952	2.095	0.80722	D	1	D;D	0.67145	0.99;0.996	P;P	0.62649	0.829;0.905	T	0.82690	-0.0332	10	0.72032	D	0.01	-19.6238	20.819	0.99723	0.0:1.0:0.0:0.0	.	237;237	Q9Y6R4-2;Q9Y6R4	.;M3K4_HUMAN	L	237	ENSP00000355886:S237L;ENSP00000375986:S237L;ENSP00000355887:S237L;ENSP00000297332:S237L	ENSP00000297332:S237L	S	+	2	0	MAP3K4	161390004	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.454000	0.80714	2.927000	0.99377	0.637000	0.83480	TCA	MAP3K4	-	NULL		0.433	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K4	HGNC	protein_coding	OTTHUMT00000042988.3	C			161470014	+1	no_errors	ENST00000392142	ensembl	human	known	70_37	missense	SNP	1.000	T
MAST1	22983	genome.wustl.edu	37	19	12981737	12981737	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr19:12981737G>C	ENST00000251472.4	+	23	3142	c.3103G>C	c.(3103-3105)Gag>Cag	p.E1035Q	AC020934.1_ENST00000578125.1_RNA	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1									p.E1035Q(2)		NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GGTGCATCCTGAGGTCGTGGA	0.637																																																	2	Substitution - Missense(2)	cervix(2)											95.0	87.0	90.0					19																	12981737		2203	4300	6503	SO:0001583	missense	22983			AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.3103G>C	19.37:g.12981737G>C	ENSP00000251472:p.Glu1035Gln			Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.E1035Q	ENST00000251472.4	37	c.3103	CCDS32921.1	19	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509613	0.64522	.	.	ENSG00000105613	ENST00000251472	T	0.48836	0.8	4.39	4.39	0.52855	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.44350	0.1289	N	0.05177	-0.1	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.36504	-0.9745	10	0.12766	T	0.61	-28.327	14.8064	0.69959	0.0:0.0:1.0:0.0	.	1035	Q9Y2H9	MAST1_HUMAN	Q	1035	ENSP00000251472:E1035Q	ENSP00000251472:E1035Q	E	+	1	0	MAST1	12842737	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.790000	0.99075	2.149000	0.67028	0.462000	0.41574	GAG	MAST1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.637	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST1	HGNC	protein_coding	OTTHUMT00000451733.2	G	NM_014975		12981737	+1	no_errors	ENST00000251472	ensembl	human	known	70_37	missense	SNP	1.000	C
MAST1	22983	genome.wustl.edu	37	19	12981865	12981865	+	Missense_Mutation	SNP	G	G	C	rs35052801	byFrequency	TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr19:12981865G>C	ENST00000251472.4	+	24	3181	c.3142G>C	c.(3142-3144)Gca>Cca	p.A1048P	AC020934.1_ENST00000578125.1_RNA	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1									p.A1048P(2)		NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CAACAAGGTAGCAGTGACCAC	0.602																																																	2	Substitution - Missense(2)	cervix(2)											98.0	98.0	98.0					19																	12981865		2203	4300	6503	SO:0001583	missense	22983			AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.3142G>C	19.37:g.12981865G>C	ENSP00000251472:p.Ala1048Pro			Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.A1048P	ENST00000251472.4	37	c.3142	CCDS32921.1	19	.	.	.	.	.	.	.	.	.	.	G	18.87	3.716474	0.68844	.	.	ENSG00000105613	ENST00000251472	T	0.27557	1.66	4.85	4.85	0.62838	PDZ/DHR/GLGF (4);	0.059016	0.64402	D	0.000002	T	0.29620	0.0739	N	0.08118	0	0.36330	D	0.858799	P	0.41624	0.757	P	0.56216	0.794	T	0.43360	-0.9396	10	0.72032	D	0.01	-19.232	10.6776	0.45796	0.0:0.0:0.8088:0.1912	.	1048	Q9Y2H9	MAST1_HUMAN	P	1048	ENSP00000251472:A1048P	ENSP00000251472:A1048P	A	+	1	0	MAST1	12842865	0.004000	0.15560	0.829000	0.32907	0.973000	0.67179	0.312000	0.19397	2.227000	0.72691	0.462000	0.41574	GCA	MAST1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.602	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST1	HGNC	protein_coding	OTTHUMT00000451733.2	G	NM_014975		12981865	+1	no_errors	ENST00000251472	ensembl	human	known	70_37	missense	SNP	0.805	C
MFAP3L	9848	genome.wustl.edu	37	4	170926743	170926743	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr4:170926743C>T	ENST00000361618.3	-	2	593	c.286G>A	c.(286-288)Gag>Aag	p.E96K	MFAP3L_ENST00000393704.3_5'Flank|MFAP3L_ENST00000506110.1_Missense_Mutation_p.E96K|MFAP3L_ENST00000393702.3_Missense_Mutation_p.E96K	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	96	Ig-like C2-type.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E96K(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		CCTCCTCTCTCCTTCTCATCC	0.423																																																	1	Substitution - Missense(1)	cervix(1)											159.0	151.0	153.0					4																	170926743		2203	4300	6503	SO:0001583	missense	9848			AB014526	CCDS34103.1, CCDS43281.1	4q33	2014-08-12			ENSG00000198948	ENSG00000198948		"""Immunoglobulin superfamily / I-set domain containing"""	29083	protein-coding gene	gene with protein product						9734811	Standard	XM_005263366		Approved	KIAA0626, NYD-sp9	uc003isp.4	O75121	OTTHUMG00000160942	ENST00000361618.3:c.286G>A	4.37:g.170926743C>T	ENSP00000354583:p.Glu96Lys		A8K1X6|D3DP35|Q4W5N7|Q4W5N9|Q6TNA8|Q9BVE1|Q9BXK0	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E96K	ENST00000361618.3	37	c.286	CCDS34103.1	4	.	.	.	.	.	.	.	.	.	.	C	7.841	0.721916	0.15372	.	.	ENSG00000198948	ENST00000361618;ENST00000393702;ENST00000506110;ENST00000504999	D;D;D;D	0.86497	-1.71;-1.9;-1.9;-2.13	4.41	3.55	0.40652	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.583640	0.03409	N	0.204482	T	0.78407	0.4278	N	0.19112	0.55	0.18873	N	0.999982	B	0.02656	0.0	B	0.04013	0.001	T	0.62562	-0.6828	10	0.16420	T	0.52	-31.8718	6.58	0.22588	0.0:0.7151:0.1849:0.1001	.	96	O75121	MFA3L_HUMAN	K	96	ENSP00000354583:E96K;ENSP00000377305:E96K;ENSP00000422571:E96K;ENSP00000425303:E96K	ENSP00000354583:E96K	E	-	1	0	MFAP3L	171163318	.	.	0.344000	0.25628	0.312000	0.27988	.	.	0.952000	0.37798	-0.304000	0.09214	GAG	MFAP3L	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.423	MFAP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFAP3L	HGNC	protein_coding	OTTHUMT00000363043.2	C	NM_021647		170926743	-1	no_errors	ENST00000361618	ensembl	human	known	70_37	missense	SNP	0.220	T
MGAM	8972	genome.wustl.edu	37	7	141705385	141705385	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr7:141705385C>A	ENST00000549489.2	+	2	150	c.55C>A	c.(55-57)Ctt>Att	p.L19I	MGAM_ENST00000475668.2_Missense_Mutation_p.L19I	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	19					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.L19I(4)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GCTCAGTGTTCTTCTGCTTGT	0.343																																																	4	Substitution - Missense(4)	cervix(4)											110.0	104.0	106.0					7																	141705385		1847	4096	5943	SO:0001583	missense	8972			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.55C>A	7.37:g.141705385C>A	ENSP00000447378:p.Leu19Ile		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.L19I	ENST00000549489.2	37	c.55	CCDS47727.1	7	.	.	.	.	.	.	.	.	.	.	C	11.49	1.653150	0.29425	.	.	ENSG00000257335	ENST00000465654;ENST00000549489;ENST00000497673;ENST00000475668	T;D;T	0.90444	-1.1;-2.67;0.1	4.42	1.38	0.22167	.	0.162448	0.29579	N	0.011760	D	0.85639	0.5743	L	0.49126	1.545	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.74054	-0.3788	10	0.37606	T	0.19	.	9.9545	0.41657	0.5393:0.4607:0.0:0.0	.	19	O43451	MGA_HUMAN	I	19	ENSP00000419372:L19I;ENSP00000447378:L19I;ENSP00000417103:L19I	ENSP00000373973:L19I	L	+	1	0	MGAM	141351854	0.459000	0.25768	0.116000	0.21606	0.981000	0.71138	0.652000	0.24888	0.282000	0.22254	0.655000	0.94253	CTT	MGAM	-	NULL		0.343	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	C			141705385	+1	no_errors	ENST00000549489	ensembl	human	known	70_37	missense	SNP	0.147	A
MKI67	4288	genome.wustl.edu	37	10	129913693	129913693	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr10:129913693G>T	ENST00000368654.3	-	7	1354	c.979C>A	c.(979-981)Cag>Aag	p.Q327K	MKI67_ENST00000368653.3_Intron|MKI67_ENST00000484853.1_5'Flank	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	327					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.Q327K(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTGGGAGTCTGAACAGACTCC	0.522																																																	1	Substitution - Missense(1)	cervix(1)											72.0	79.0	76.0					10																	129913693		2203	4300	6503	SO:0001583	missense	4288			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.979C>A	10.37:g.129913693G>T	ENSP00000357643:p.Gln327Lys		Q5VWH2	Missense_Mutation	SNP	pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.Q327K	ENST00000368654.3	37	c.979	CCDS7659.1	10	.	.	.	.	.	.	.	.	.	.	G	11.33	1.606229	0.28623	.	.	ENSG00000148773	ENST00000368654;ENST00000537609	T	0.01379	4.96	3.59	1.67	0.24075	.	2.238060	0.01990	N	0.045442	T	0.02047	0.0064	L	0.29908	0.895	0.09310	N	1	P	0.47762	0.9	B	0.41332	0.354	T	0.51124	-0.8745	10	0.87932	D	0	.	9.7716	0.40593	0.0:0.4127:0.5873:0.0	.	327	P46013	KI67_HUMAN	K	327	ENSP00000357643:Q327K	ENSP00000357643:Q327K	Q	-	1	0	MKI67	129803683	0.004000	0.15560	0.001000	0.08648	0.004000	0.04260	0.540000	0.23191	0.491000	0.27793	0.655000	0.94253	CAG	MKI67	-	NULL		0.522	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	HGNC	protein_coding	OTTHUMT00000050999.1	G	NM_002417		129913693	-1	no_errors	ENST00000368654	ensembl	human	known	70_37	missense	SNP	0.001	T
MXRA5	25878	genome.wustl.edu	37	X	3229028	3229028	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chrX:3229028G>A	ENST00000217939.6	-	7	7370	c.7216C>T	c.(7216-7218)Cag>Tag	p.Q2406*		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2406	Ig-like C2-type 8.					extracellular vesicular exosome (GO:0070062)		p.Q2406*(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGGGCTTTCTGAATAAGGAGA	0.537																																																	2	Substitution - Nonsense(2)	cervix(2)											96.0	77.0	83.0					X																	3229028		2203	4300	6503	SO:0001587	stop_gained	25878			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.7216C>T	X.37:g.3229028G>A	ENSP00000217939:p.Gln2406*		Q6P1M7|Q9Y3Y8	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Q2406*	ENST00000217939.6	37	c.7216	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	G	45	11.554193	0.99575	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	.	.	.	3.78	3.78	0.43462	.	0.220262	0.23051	U	0.052492	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	15.4341	0.75129	0.0:0.0:1.0:0.0	.	.	.	.	X	2406	.	ENSP00000217939:Q2406X	Q	-	1	0	MXRA5	3239028	1.000000	0.71417	0.012000	0.15200	0.024000	0.10985	4.941000	0.63540	1.526000	0.49068	0.597000	0.82753	CAG	MXRA5	-	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.537	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	G	NM_015419		3229028	-1	no_errors	ENST00000217939	ensembl	human	known	70_37	nonsense	SNP	0.936	A
MYH6	4624	genome.wustl.edu	37	14	23857474	23857474	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr14:23857474C>G	ENST00000356287.3	-	29	4278	c.4249G>C	c.(4249-4251)Gag>Cag	p.E1417Q	MIR208A_ENST00000362287.1_RNA|MYH6_ENST00000405093.3_Missense_Mutation_p.E1417Q			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1417					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)	p.E1417Q(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TTGGTCTTCTCCAGTGAGGAG	0.582																																																	1	Substitution - Missense(1)	cervix(1)											132.0	126.0	128.0					14																	23857474		2203	4300	6503	SO:0001583	missense	4624			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.4249G>C	14.37:g.23857474C>G	ENSP00000348634:p.Glu1417Gln		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1417Q	ENST00000356287.3	37	c.4249	CCDS9600.1	14	.	.	.	.	.	.	.	.	.	.	c	24.7	4.557083	0.86231	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.84223	-1.82;-1.82	4.64	4.64	0.57946	Myosin tail (1);	.	.	.	.	D	0.95364	0.8495	H	0.97516	4.02	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.97334	0.9952	9	0.87932	D	0	.	17.8925	0.88877	0.0:1.0:0.0:0.0	.	1417	P13533	MYH6_HUMAN	Q	1417	ENSP00000386041:E1417Q;ENSP00000348634:E1417Q	ENSP00000348634:E1417Q	E	-	1	0	MYH6	22927314	1.000000	0.71417	0.995000	0.50966	0.717000	0.41224	7.492000	0.81482	2.292000	0.77174	0.561000	0.74099	GAG	MYH6	-	pfam_Myosin_tail,superfamily_Prefoldin		0.582	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH6	HGNC	protein_coding	OTTHUMT00000071796.3	C			23857474	-1	no_errors	ENST00000356287	ensembl	human	known	70_37	missense	SNP	1.000	G
NCKAP1	10787	genome.wustl.edu	37	2	183826937	183826937	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr2:183826937G>A	ENST00000361354.4	-	18	2203	c.1831C>T	c.(1831-1833)Cga>Tga	p.R611*	NCKAP1_ENST00000360982.2_Nonsense_Mutation_p.R617*	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	611					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)	p.R617*(1)		breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			ATGAGATTTCGAGCTTGTTTG	0.368																																																	1	Substitution - Nonsense(1)	cervix(1)											160.0	148.0	152.0					2																	183826937		2203	4300	6503	SO:0001587	stop_gained	10787			AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.1831C>T	2.37:g.183826937G>A	ENSP00000355348:p.Arg611*		O60329|Q53QN5|Q53S94|Q53Y35	Nonsense_Mutation	SNP	pfam_Nck-associated_protein-1	p.R617*	ENST00000361354.4	37	c.1849	CCDS2287.1	2	.	.	.	.	.	.	.	.	.	.	G	46	12.167198	0.99642	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	.	.	.	5.05	3.12	0.35913	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-6.5262	14.522	0.67856	0.0:0.0:0.7359:0.2641	.	.	.	.	X	611;617	.	ENSP00000354251:R617X	R	-	1	2	NCKAP1	183535182	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	4.455000	0.60075	1.261000	0.44149	0.655000	0.94253	CGA	NCKAP1	-	pfam_Nck-associated_protein-1		0.368	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCKAP1	HGNC	protein_coding	OTTHUMT00000255867.2	G	NM_205842		183826937	-1	no_errors	ENST00000360982	ensembl	human	known	70_37	nonsense	SNP	1.000	A
NCOR1	9611	genome.wustl.edu	37	17	16001722	16001722	+	Silent	SNP	G	G	A			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr17:16001722G>A	ENST00000268712.3	-	21	3036	c.2779C>T	c.(2779-2781)Ctg>Ttg	p.L927L	NCOR1_ENST00000395848.1_Silent_p.L834L|RNU6-314P_ENST00000516574.1_RNA|NCOR1_ENST00000395851.1_Silent_p.L943L	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	927					CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.L927L(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		AGCTGTGGCAGATCCAGTGGA	0.403																																																	1	Substitution - coding silent(1)	cervix(1)											84.0	83.0	83.0					17																	16001722		2203	4300	6503	SO:0001819	synonymous_variant	9611			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.2779C>T	17.37:g.16001722G>A			B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Silent	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.L927	ENST00000268712.3	37	c.2779	CCDS11175.1	17																																																																																			NCOR1	-	NULL		0.403	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOR1	HGNC	protein_coding	OTTHUMT00000131751.5	G	NM_006311		16001722	-1	no_errors	ENST00000268712	ensembl	human	known	70_37	silent	SNP	0.980	A
NUP133	55746	genome.wustl.edu	37	1	229586486	229586487	+	Intron	INS	-	-	TTG	rs544272246|rs4925452|rs111922560	byFrequency	TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr1:229586486_229586487insTTG	ENST00000261396.3	-	23	3191				NUP133_ENST00000537506.1_Intron|NUP133_ENST00000485119.1_5'UTR	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				ttgtttgttttttttgagacaa	0.396																																																	0																																										SO:0001627	intron_variant	55746				CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.3100-134->CAA	1.37:g.229586486_229586487insTTG			B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	RNA	INS	-	NULL	ENST00000261396.3	37	NULL	CCDS1579.1	1																																																																																			NUP133	-	-		0.396	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP133	HGNC	protein_coding	OTTHUMT00000095224.1	-	NM_018230		229586487	-1	no_errors	ENST00000485119	ensembl	human	known	70_37	rna	INS	0.005:0.007	TTG
OR7A17	26333	genome.wustl.edu	37	19	14991727	14991727	+	Silent	SNP	T	T	A			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr19:14991727T>A	ENST00000327462.2	-	1	537	c.441A>T	c.(439-441)gcA>gcT	p.A147A		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A147A(1)		breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					TCATCCAGGATGCCAGAACCA	0.502																																																	1	Substitution - coding silent(1)	cervix(1)											112.0	107.0	109.0					19																	14991727		2203	4300	6503	SO:0001819	synonymous_variant	26333			X64993	CCDS12319.1	19p13.12	2012-08-09				ENSG00000185385		"""GPCR / Class A : Olfactory receptors"""	8363	protein-coding gene	gene with protein product						1370859	Standard	NM_030901		Approved	HTPCRX19	uc010xob.2	O14581		ENST00000327462.2:c.441A>T	19.37:g.14991727T>A			Q6IFQ6|Q96R98	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A147	ENST00000327462.2	37	c.441	CCDS12319.1	19																																																																																			OR7A17	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.502	OR7A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7A17	HGNC	protein_coding	OTTHUMT00000466523.1	T	NM_030901		14991727	-1	no_errors	ENST00000327462	ensembl	human	known	70_37	silent	SNP	0.002	A
P2RX1	5023	genome.wustl.edu	37	17	3806871	3806871	+	Silent	SNP	G	G	A			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr17:3806871G>A	ENST00000225538.3	-	6	853	c.579C>T	c.(577-579)atC>atT	p.I193I		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	193					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ceramide biosynthetic process (GO:0046513)|insemination (GO:0007320)|ion transport (GO:0006811)|neuronal action potential (GO:0019228)|platelet activation (GO:0030168)|positive regulation of ion transport (GO:0043270)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of vascular smooth muscle contraction (GO:0003056)|response to ATP (GO:0033198)|serotonin secretion by platelet (GO:0002554)|signal transduction (GO:0007165)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|vasoconstriction (GO:0042310)	external side of cell outer membrane (GO:0031240)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)	p.I193I(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		GTGGAAAGCTGATGCTGTTCT	0.617																																																	1	Substitution - coding silent(1)	cervix(1)											84.0	84.0	84.0					17																	3806871		2203	4300	6503	SO:0001819	synonymous_variant	5023			X83688	CCDS11040.1	17p13.3	2012-01-17				ENSG00000108405		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8533	protein-coding gene	gene with protein product		600845				8834001	Standard	NM_002558		Approved	P2X1	uc002fww.3	P51575		ENST00000225538.3:c.579C>T	17.37:g.3806871G>A			Q9UK84	Silent	SNP	pfam_P2X_purnocptor,prints_P2X1_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor	p.I193	ENST00000225538.3	37	c.579	CCDS11040.1	17																																																																																			P2RX1	-	pfam_P2X_purnocptor,tigrfam_P2X_purnocptor		0.617	P2RX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RX1	HGNC	protein_coding	OTTHUMT00000438391.1	G	NM_002558		3806871	-1	no_errors	ENST00000225538	ensembl	human	known	70_37	silent	SNP	1.000	A
PABPC5	140886	genome.wustl.edu	37	X	90691095	90691095	+	Silent	SNP	C	C	T			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chrX:90691095C>T	ENST00000312600.3	+	2	733	c.519C>T	c.(517-519)cgC>cgT	p.R173R	PABPC5_ENST00000373105.1_Silent_p.R9R|PABPC5-AS1_ENST00000456187.1_RNA	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	173	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.R173R(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						TCAACAACCGCCAGGTGTATG	0.498																																																	1	Substitution - coding silent(1)	cervix(1)											38.0	35.0	36.0					X																	90691095		2203	4300	6503	SO:0001819	synonymous_variant	140886			AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"""RNA binding motif (RRM) containing"""	13629	protein-coding gene	gene with protein product		300407	"""poly(A)-binding protein, cytoplasmic 5"""			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.519C>T	X.37:g.90691095C>T			A8K240|Q5JQF4|Q6P529|Q9UFE5	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234	p.R173	ENST00000312600.3	37	c.519	CCDS14460.1	X																																																																																			PABPC5	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234		0.498	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC5	HGNC	protein_coding	OTTHUMT00000057429.1	C	NM_080832		90691095	+1	no_errors	ENST00000312600	ensembl	human	known	70_37	silent	SNP	1.000	T
PCNT	5116	genome.wustl.edu	37	21	47786940	47786940	+	Silent	SNP	G	G	A			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr21:47786940G>A	ENST00000359568.5	+	15	3158	c.3051G>A	c.(3049-3051)gaG>gaA	p.E1017E	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1017					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)		p.E1017E(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AAGAGTTGGAGAAACTGAAGC	0.547																																																	1	Substitution - coding silent(1)	cervix(1)											90.0	100.0	97.0					21																	47786940		2203	4300	6503	SO:0001819	synonymous_variant	5116			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.3051G>A	21.37:g.47786940G>A			O43152|Q7Z7C9	Silent	SNP	pfam_PACT_domain	p.E1017	ENST00000359568.5	37	c.3051	CCDS33592.1	21																																																																																			PCNT	-	NULL		0.547	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1	G	NM_006031		47786940	+1	no_errors	ENST00000359568	ensembl	human	known	70_37	silent	SNP	0.875	A
PDE1C	5137	genome.wustl.edu	37	7	31904683	31904683	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr7:31904683G>A	ENST00000396191.1	-	7	1078	c.623C>T	c.(622-624)gCa>gTa	p.A208V	PDE1C_ENST00000396182.2_Missense_Mutation_p.A208V|PDE1C_ENST00000396193.1_Missense_Mutation_p.A268V|PDE1C_ENST00000396184.3_Missense_Mutation_p.A208V|PDE1C_ENST00000321453.7_Missense_Mutation_p.A208V	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	208	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.A208V(2)|p.A268V(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	TGAGACAAGTGCAGAAATGGG	0.443																																																	3	Substitution - Missense(3)	cervix(3)											125.0	112.0	117.0					7																	31904683		2203	4300	6503	SO:0001583	missense	5137			U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.623C>T	7.37:g.31904683G>A	ENSP00000379494:p.Ala208Val		B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase	p.A208V	ENST00000396191.1	37	c.623	CCDS55099.1	7	.	.	.	.	.	.	.	.	.	.	G	14.89	2.670965	0.47781	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9;-0.9	5.88	5.88	0.94601	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.046819	0.85682	D	0.000000	T	0.48314	0.1493	N	0.01705	-0.755	0.80722	D	1	B;B;P	0.35456	0.014;0.402;0.502	B;B;B	0.27887	0.053;0.074;0.084	T	0.55088	-0.8195	10	0.15066	T	0.55	.	19.8116	0.96549	0.0:0.0:1.0:0.0	.	208;268;208	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	V	268;208;208;208;208	ENSP00000379496:A268V;ENSP00000379494:A208V;ENSP00000318105:A208V;ENSP00000379487:A208V;ENSP00000379485:A208V	ENSP00000318105:A208V	A	-	2	0	PDE1C	31871208	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.008000	0.88588	2.781000	0.95711	0.591000	0.81541	GCA	PDE1C	-	NULL		0.443	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	PDE1C	HGNC	protein_coding	OTTHUMT00000328458.1	G			31904683	-1	no_errors	ENST00000321453	ensembl	human	known	70_37	missense	SNP	1.000	A
PEX12	5193	genome.wustl.edu	37	17	33904559	33904559	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr17:33904559C>G	ENST00000225873.4	-	2	785	c.178G>C	c.(178-180)Gat>Cat	p.D60H	RP11-1094M14.11_ENST00000592381.1_lincRNA	NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	60					peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)	p.D60H(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AAGATTTCATCAAACCACCTC	0.378																																																	1	Substitution - Missense(1)	cervix(1)											106.0	118.0	114.0					17																	33904559		2200	4293	6493	SO:0001583	missense	5193			U91521	CCDS11296.1	17q21.1	2011-02-10			ENSG00000108733	ENSG00000108733			8854	protein-coding gene	gene with protein product		601758				9090384	Standard	NM_000286		Approved		uc002hjp.3	O00623	OTTHUMG00000132951	ENST00000225873.4:c.178G>C	17.37:g.33904559C>G	ENSP00000225873:p.Asp60His		B2R6M2	Missense_Mutation	SNP	pfam_Pex_N,pirsf_PEX12	p.D60H	ENST00000225873.4	37	c.178	CCDS11296.1	17	.	.	.	.	.	.	.	.	.	.	C	26.2	4.715088	0.89112	.	.	ENSG00000108733	ENST00000424525;ENST00000225873	D	0.85013	-1.93	5.63	5.63	0.86233	Pex, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93327	0.7873	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93741	0.7050	10	0.66056	D	0.02	-17.6134	18.6723	0.91516	0.0:1.0:0.0:0.0	.	60	O00623	PEX12_HUMAN	H	60	ENSP00000225873:D60H	ENSP00000225873:D60H	D	-	1	0	PEX12	30928672	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.080000	0.76837	2.651000	0.90000	0.650000	0.86243	GAT	PEX12	-	pfam_Pex_N,pirsf_PEX12		0.378	PEX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX12	HGNC	protein_coding	OTTHUMT00000256489.2	C	NM_000286		33904559	-1	no_errors	ENST00000225873	ensembl	human	known	70_37	missense	SNP	1.000	G
PIGN	23556	genome.wustl.edu	37	18	59739947	59739947	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr18:59739947G>C	ENST00000357637.5	-	30	3046	c.2631C>G	c.(2629-2631)ttC>ttG	p.F877L	PIGN_ENST00000400334.3_Missense_Mutation_p.F877L	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	877					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)	p.F877L(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				CCTTGACCAAGAAGAAAAAAT	0.313																																																	1	Substitution - Missense(1)	cervix(1)											29.0	30.0	30.0					18																	59739947		1799	4066	5865	SO:0001583	missense	23556			AF109219	CCDS45879.1	18q21.33	2013-02-26	2006-06-28		ENSG00000197563	ENSG00000197563		"""Phosphatidylinositol glycan anchor biosynthesis"""	8967	protein-coding gene	gene with protein product		606097	"""phosphatidylinositol glycan, class N"""			10069808, 10574991	Standard	NM_012327		Approved	MDC4, PIG-N	uc021ulb.1	O95427	OTTHUMG00000180098	ENST00000357637.5:c.2631C>G	18.37:g.59739947G>C	ENSP00000350263:p.Phe877Leu		Q7L8F8|Q8TC01|Q9NT05	Missense_Mutation	SNP	pfam_GPI_EtnP_transferase_1_C,pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.F877L	ENST00000357637.5	37	c.2631	CCDS45879.1	18	.	.	.	.	.	.	.	.	.	.	G	19.67	3.871485	0.72065	.	.	ENSG00000197563	ENST00000357637;ENST00000400334	T;T	0.62639	0.01;0.01	5.88	3.1	0.35709	GPI ethanolamine phosphate transferase 1, C-terminal (1);	0.054903	0.64402	D	0.000001	T	0.77565	0.4149	M	0.87900	2.915	0.54753	D	0.999987	D;P	0.64830	0.994;0.909	D;D	0.66979	0.948;0.917	T	0.76974	-0.2760	10	0.40728	T	0.16	-12.1811	9.9012	0.41348	0.2856:0.0:0.7144:0.0	.	877;877	B2RCI8;O95427	.;PIGN_HUMAN	L	877	ENSP00000350263:F877L;ENSP00000383188:F877L	ENSP00000350263:F877L	F	-	3	2	PIGN	57890927	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	2.339000	0.43965	0.813000	0.34350	0.585000	0.79938	TTC	PIGN	-	pfam_GPI_EtnP_transferase_1_C		0.313	PIGN-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	PIGN	HGNC	protein_coding	OTTHUMT00000449757.2	G	NM_176787		59739947	-1	no_errors	ENST00000357637	ensembl	human	known	70_37	missense	SNP	0.996	C
PIK3CA	5290	genome.wustl.edu	37	3	178921549	178921549	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr3:178921549T>G	ENST00000263967.3	+	5	1188	c.1031T>G	c.(1030-1032)gTg>gGg	p.V344G		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	344	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.V344G(8)|p.V344A(5)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GCAACCTACGTGAATGTAAAT	0.303		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	13	Substitution - Missense(13)	endometrium(6)|large_intestine(4)|cervix(2)|central_nervous_system(1)											68.0	67.0	67.0					3																	178921549		1808	4073	5881	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1031T>G	3.37:g.178921549T>G	ENSP00000263967:p.Val344Gly		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.V344G	ENST00000263967.3	37	c.1031	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	T	23.2	4.391827	0.83011	.	.	ENSG00000121879	ENST00000263967	T	0.71103	-0.54	5.41	5.41	0.78517	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	D	0.83367	0.5239	M	0.77103	2.36	0.80722	D	1	D	0.76494	0.999	D	0.68353	0.957	D	0.84581	0.0661	10	0.49607	T	0.09	-22.945	15.721	0.77710	0.0:0.0:0.0:1.0	.	344	P42336	PK3CA_HUMAN	G	344	ENSP00000263967:V344G	ENSP00000263967:V344G	V	+	2	0	PIK3CA	180404243	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.606000	0.82863	2.166000	0.68216	0.402000	0.26972	GTG	PIK3CA	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom		0.303	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	T			178921549	+1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	G
POLR3G	10622	genome.wustl.edu	37	5	89802378	89802378	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr5:89802378G>A	ENST00000399107.1	+	7	672	c.472G>A	c.(472-474)Gat>Aat	p.D158N	POLR3G_ENST00000504930.1_Missense_Mutation_p.D158N	NM_006467.2	NP_006458.2	O15318	RPC7_HUMAN	polymerase (RNA) III (DNA directed) polypeptide G (32kD)	158	Glu-rich.				cell proliferation (GO:0008283)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	DNA-directed RNA polymerase activity (GO:0003899)	p.D158N(1)		cervix(1)|endometrium(1)|kidney(2)|lung(4)|prostate(1)	9		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;2.74e-31)|Epithelial(54;8.2e-26)|all cancers(79;3.86e-22)		tgaaaaatcagatgaggaaaa	0.393																																																	1	Substitution - Missense(1)	cervix(1)											90.0	86.0	87.0					5																	89802378		1905	4124	6029	SO:0001583	missense	10622			U93868	CCDS43337.1	5q14.3	2014-06-05			ENSG00000113356	ENSG00000113356		"""RNA polymerase subunits"""	30075	protein-coding gene	gene with protein product						9171375, 12391170	Standard	NM_006467		Approved	RPC32, RPC7	uc003kjq.3	O15318	OTTHUMG00000162809	ENST00000399107.1:c.472G>A	5.37:g.89802378G>A	ENSP00000382058:p.Asp158Asn		A8MTH0	Missense_Mutation	SNP	pfam_RNA_pol_III_Rpc31	p.D158N	ENST00000399107.1	37	c.472	CCDS43337.1	5	.	.	.	.	.	.	.	.	.	.	G	14.43	2.531678	0.45073	.	.	ENSG00000113356	ENST00000503373;ENST00000399107;ENST00000504930	.	.	.	4.28	3.4	0.38934	.	0.481888	0.21610	N	0.071817	T	0.59972	0.2233	L	0.56769	1.78	0.46798	D	0.999202	P	0.44380	0.834	P	0.49708	0.62	T	0.57849	-0.7740	9	0.39692	T	0.17	-13.1529	9.6573	0.39934	0.0:0.0:0.7925:0.2075	.	158	O15318	RPC7_HUMAN	N	158	.	ENSP00000382058:D158N	D	+	1	0	POLR3G	89838134	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.116000	0.57871	1.120000	0.41904	0.655000	0.94253	GAT	POLR3G	-	pfam_RNA_pol_III_Rpc31		0.393	POLR3G-201	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3G	HGNC	protein_coding	OTTHUMT00000370462.1	G	NM_006467		89802378	+1	no_errors	ENST00000399107	ensembl	human	known	70_37	missense	SNP	1.000	A
PRPF38A	84950	genome.wustl.edu	37	1	52882338	52882338	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr1:52882338G>C	ENST00000257181.9	+	10	1101	c.915G>C	c.(913-915)aaG>aaC	p.K305N	PRPF38A_ENST00000474048.1_3'UTR	NM_032864.3	NP_116253.2	Q8NAV1	PR38A_HUMAN	pre-mRNA processing factor 38A	305					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)	p.K305N(1)		cervix(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|stomach(1)	9						AGAGCCACAAGAAGAGCCGGA	0.448																																																	1	Substitution - Missense(1)	cervix(1)											82.0	82.0	82.0					1																	52882338		2203	4300	6503	SO:0001583	missense	84950			AK092038	CCDS567.1	1p32.3	2013-10-03	2013-10-03		ENSG00000134748	ENSG00000134748			25930	protein-coding gene	gene with protein product			"""PRP38 pre-mRNA processing factor 38 (yeast) domain containing A"""			12477932	Standard	NM_032864		Approved	FLJ14936, Prp38	uc001ctw.4	Q8NAV1	OTTHUMG00000008199	ENST00000257181.9:c.915G>C	1.37:g.52882338G>C	ENSP00000257181:p.Lys305Asn		Q96JW1|Q9BVZ8	Missense_Mutation	SNP	pfam_PRP38	p.K305N	ENST00000257181.9	37	c.915	CCDS567.1	1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414435	0.62511	.	.	ENSG00000134748	ENST00000257181	T	0.80214	-1.35	5.74	5.74	0.90152	.	0.099426	0.64402	D	0.000002	T	0.78136	0.4236	N	0.08118	0	0.80722	D	1	D	0.57899	0.981	D	0.67231	0.95	T	0.80219	-0.1473	10	0.48119	T	0.1	-27.4249	12.7081	0.57073	0.1172:0.0:0.8828:0.0	.	305	Q8NAV1	PR38A_HUMAN	N	305	ENSP00000257181:K305N	ENSP00000257181:K305N	K	+	3	2	PRPF38A	52654926	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.037000	0.64170	2.731000	0.93534	0.644000	0.83932	AAG	PRPF38A	-	NULL		0.448	PRPF38A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF38A	HGNC	protein_coding	OTTHUMT00000022459.2	G	NM_032864		52882338	+1	no_errors	ENST00000257181	ensembl	human	known	70_37	missense	SNP	1.000	C
PRPF38A	84950	genome.wustl.edu	37	1	52882347	52882347	+	Silent	SNP	G	G	C			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr1:52882347G>C	ENST00000257181.9	+	10	1110	c.924G>C	c.(922-924)cgG>cgC	p.R308R	PRPF38A_ENST00000474048.1_3'UTR	NM_032864.3	NP_116253.2	Q8NAV1	PR38A_HUMAN	pre-mRNA processing factor 38A	308					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)	p.R308R(1)		cervix(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|stomach(1)	9						AGAAGAGCCGGAGAGGGAATG	0.458																																																	1	Substitution - coding silent(1)	cervix(1)											88.0	88.0	88.0					1																	52882347		2203	4300	6503	SO:0001819	synonymous_variant	84950			AK092038	CCDS567.1	1p32.3	2013-10-03	2013-10-03		ENSG00000134748	ENSG00000134748			25930	protein-coding gene	gene with protein product			"""PRP38 pre-mRNA processing factor 38 (yeast) domain containing A"""			12477932	Standard	NM_032864		Approved	FLJ14936, Prp38	uc001ctw.4	Q8NAV1	OTTHUMG00000008199	ENST00000257181.9:c.924G>C	1.37:g.52882347G>C			Q96JW1|Q9BVZ8	Silent	SNP	pfam_PRP38	p.R308	ENST00000257181.9	37	c.924	CCDS567.1	1																																																																																			PRPF38A	-	NULL		0.458	PRPF38A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF38A	HGNC	protein_coding	OTTHUMT00000022459.2	G	NM_032864		52882347	+1	no_errors	ENST00000257181	ensembl	human	known	70_37	silent	SNP	1.000	C
PTEN	5728	genome.wustl.edu	37	10	89717609	89717609	+	Splice_Site	SNP	G	G	A			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr10:89717609G>A	ENST00000371953.3	+	7	1991		c.e7-1		PTEN_ENST00000472832.1_Splice_Site	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog						activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(7)|p.R55fs*1(5)|p.Y27fs*1(2)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TAACCATGCAGATCCTCAGTT	0.383		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	52	Whole gene deletion(37)|Deletion - Frameshift(7)|Unknown(7)|Deletion - In frame(1)	prostate(16)|central_nervous_system(10)|skin(6)|endometrium(5)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|ovary(3)|breast(2)|cervix(1)|soft_tissue(1)|urinary_tract(1)	GRCh37	CS090867|CS993675	PTEN	S							108.0	95.0	100.0					10																	89717609		2203	4300	6503	SO:0001630	splice_region_variant	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.635-1G>A	10.37:g.89717609G>A			B2R904|F2YHV0|O00633|O02679|Q6ICT7	Splice_Site	SNP	-	e7-1	ENST00000371953.3	37	c.635-1	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	G	25.9	4.689933	0.88735	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7712	0.96366	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTEN	89707589	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.429000	0.97481	2.677000	0.91161	0.585000	0.79938	.	PTEN	-	-		0.383	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	G	NM_000314	Intron	89717609	+1	no_errors	ENST00000371953	ensembl	human	known	70_37	splice_site	SNP	1.000	A
PTPRM	5797	genome.wustl.edu	37	18	8252485	8252485	+	Intron	SNP	G	G	T			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr18:8252485G>T	ENST00000332175.8	+	17	3564				PTPRM_ENST00000580170.1_Splice_Site|PTPRM_ENST00000400053.4_Intron|PTPRM_ENST00000444013.1_Intron|PTPRM_ENST00000400060.4_Intron	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M						homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CTTCTTAAAAGTGCCAATAAA	0.418																																																	0													154.0	151.0	152.0					18																	8252485		1905	4129	6034	SO:0001627	intron_variant	5797			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.2528-740G>T	18.37:g.8252485G>T			A7MBN1|D3DUH8|J3QL11	Splice_Site	SNP	-	e18-1	ENST00000332175.8	37	c.2555-1	CCDS11840.1	18																																																																																			PTPRM	-	-		0.418	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRM	HGNC	protein_coding	OTTHUMT00000254456.1	G			8252485	+1	no_errors	ENST00000580170	ensembl	human	novel	70_37	splice_site	SNP	1.000	T
PYGB	5834	genome.wustl.edu	37	20	25255328	25255328	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr20:25255328C>G	ENST00000216962.4	+	5	739	c.629C>G	c.(628-630)aCc>aGc	p.T210S		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	210					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)	p.T210S(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						GTGGAGCACACCCCCGACGGC	0.632																																																	1	Substitution - Missense(1)	cervix(1)											94.0	105.0	101.0					20																	25255328		2203	4300	6503	SO:0001583	missense	5834				CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"""Glycogen phosphorylases"""	9723	protein-coding gene	gene with protein product	"""glycogen phosphorylase, brain form"""	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.629C>G	20.37:g.25255328C>G	ENSP00000216962:p.Thr210Ser		Q96AK1|Q9NPX8	Missense_Mutation	SNP	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	p.T210S	ENST00000216962.4	37	c.629	CCDS13171.1	20	.	.	.	.	.	.	.	.	.	.	C	9.684	1.150099	0.21371	.	.	ENSG00000100994	ENST00000216962	D	0.92299	-3.01	4.22	1.0	0.19881	.	0.221741	0.45867	N	0.000334	D	0.85093	0.5618	N	0.26042	0.785	0.48901	D	0.999722	B	0.02656	0.0	B	0.01281	0.0	T	0.74166	-0.3753	10	0.22706	T	0.39	-27.5377	14.8613	0.70384	0.0:0.5289:0.4711:0.0	.	210	P11216	PYGB_HUMAN	S	210	ENSP00000216962:T210S	ENSP00000216962:T210S	T	+	2	0	PYGB	25203328	0.005000	0.15991	0.777000	0.31699	0.627000	0.37826	0.394000	0.20834	0.132000	0.18615	0.563000	0.77884	ACC	PYGB	-	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas		0.632	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGB	HGNC	protein_coding	OTTHUMT00000078415.2	C	NM_002862		25255328	+1	no_errors	ENST00000216962	ensembl	human	known	70_37	missense	SNP	0.991	G
RLF	6018	genome.wustl.edu	37	1	40706021	40706021	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr1:40706021C>T	ENST00000372771.4	+	8	5674	c.5647C>T	c.(5647-5649)Cgg>Tgg	p.R1883W		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1883					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R1883W(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TCATTATCTTCGGCCAGTGGT	0.388																																																	1	Substitution - Missense(1)	cervix(1)											87.0	91.0	90.0					1																	40706021		2203	4300	6503	SO:0001583	missense	6018				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.5647C>T	1.37:g.40706021C>T	ENSP00000361857:p.Arg1883Trp		Q14CQ1|Q9NU60	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R1883W	ENST00000372771.4	37	c.5647	CCDS448.1	1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.574801	0.45902	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.21031	2.03	5.35	5.35	0.76521	.	0.112220	0.64402	D	0.000020	T	0.40839	0.1133	L	0.46157	1.445	0.52099	D	0.999943	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	T	0.07366	-1.0776	10	0.87932	D	0	-9.6313	15.972	0.80027	0.1349:0.8651:0.0:0.0	.	1576;1883	F5H2M5;Q13129	.;RLF_HUMAN	W	1883;1576	ENSP00000361857:R1883W	ENSP00000361857:R1883W	R	+	1	2	RLF	40478608	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	2.553000	0.45837	2.941000	0.99782	0.655000	0.94253	CGG	RLF	-	NULL		0.388	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLF	HGNC	protein_coding	OTTHUMT00000015767.1	C	NM_012421		40706021	+1	no_errors	ENST00000372771	ensembl	human	known	70_37	missense	SNP	1.000	T
RNF150	57484	genome.wustl.edu	37	4	142053952	142053952	+	Missense_Mutation	SNP	G	G	A	rs368156046		TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr4:142053952G>A	ENST00000515673.2	-	1	44	c.11C>T	c.(10-12)tCt>tTt	p.S4F	RNF150_ENST00000420921.2_Intron|RNF150_ENST00000306799.3_Missense_Mutation_p.S4F|RNF150_ENST00000507500.1_Missense_Mutation_p.S4F			Q9ULK6	RN150_HUMAN	ring finger protein 150	4						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.S4F(1)		breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					TTGGATGAGAGACATTGCCAT	0.657																																																	1	Substitution - Missense(1)	cervix(1)						G	PHE/SER	1,4405	2.1+/-5.4	0,1,2202	66.0	54.0	58.0		11	3.5	1.0	4		58	0,8600		0,0,4300	no	missense	RNF150	NM_020724.1	155	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	4/439	142053952	1,13005	2203	4300	6503	SO:0001583	missense	57484			AB033040	CCDS34065.1	4q31.1	2013-01-09			ENSG00000170153	ENSG00000170153		"""RING-type (C3HC4) zinc fingers"""	23138	protein-coding gene	gene with protein product						10574462	Standard	XM_005263150		Approved	KIAA1214	uc003iio.1	Q9ULK6	OTTHUMG00000161380	ENST00000515673.2:c.11C>T	4.37:g.142053952G>A	ENSP00000425840:p.Ser4Phe		Q3T1D0|Q6ZNW6	Missense_Mutation	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.S4F	ENST00000515673.2	37	c.11	CCDS34065.1	4	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248031	0.80024	2.27E-4	0.0	ENSG00000170153	ENST00000306799;ENST00000515673;ENST00000507500	T;T;T	0.18960	2.18;3.09;3.16	3.53	3.53	0.40419	.	0.535928	0.17437	N	0.174248	T	0.35098	0.0920	L	0.29908	0.895	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.83275	0.996;0.996;0.99	T	0.28870	-1.0030	10	0.62326	D	0.03	.	15.9734	0.80040	0.0:0.0:1.0:0.0	.	4;4;4	Q9ULK6-2;Q9ULK6-3;Q9ULK6	.;.;RN150_HUMAN	F	4	ENSP00000304321:S4F;ENSP00000425840:S4F;ENSP00000425568:S4F	ENSP00000304321:S4F	S	-	2	0	RNF150	142273402	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.382000	0.66213	1.926000	0.55796	0.305000	0.20034	TCT	RNF150	-	NULL		0.657	RNF150-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF150	HGNC	protein_coding	OTTHUMT00000364739.2	G	XM_291090		142053952	-1	no_errors	ENST00000515673	ensembl	human	known	70_37	missense	SNP	1.000	A
RPH3A	22895	genome.wustl.edu	37	12	113314457	113314457	+	Silent	SNP	G	G	C	rs140784190	byFrequency	TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr12:113314457G>C	ENST00000389385.4	+	13	1454	c.957G>C	c.(955-957)ccG>ccC	p.P319P	RPH3A_ENST00000543106.2_Silent_p.P319P|RPH3A_ENST00000447659.2_Silent_p.P270P|RPH3A_ENST00000548866.1_Silent_p.P270P|RPH3A_ENST00000415485.3_Silent_p.P319P|RPH3A_ENST00000551052.1_Silent_p.P315P|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000420983.2_Silent_p.P319P	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	319	Pro-rich.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)	p.P315P(1)		breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		AGGTGGCTCCGAGCGACCCTG	0.587																																																	1	Substitution - coding silent(1)	cervix(1)											30.0	25.0	26.0					12																	113314457		2199	4298	6497	SO:0001819	synonymous_variant	22895			AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.957G>C	12.37:g.113314457G>C			B7Z3C3|Q96AE0	Silent	SNP	pfam_C2_Ca-dep,pfam_Rabphilin3A_effector_Zn-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel,prints_Synaptotagmin,prints_C2_dom	p.P319	ENST00000389385.4	37	c.957	CCDS44979.1	12																																																																																			RPH3A	-	NULL		0.587	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPH3A	HGNC	protein_coding	OTTHUMT00000405561.1	G	NM_014954		113314457	+1	no_errors	ENST00000389385	ensembl	human	known	70_37	silent	SNP	0.000	C
SCO1	6341	genome.wustl.edu	37	17	10600752	10600752	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr17:10600752G>C	ENST00000255390.5	-	1	133	c.73C>G	c.(73-75)Cgc>Ggc	p.R25G	ADPRM_ENST00000379774.4_5'Flank|SCO1_ENST00000582053.1_Intron|SCO1_ENST00000577427.1_Missense_Mutation_p.R25G	NM_004589.2	NP_004580.1	O75880	SCO1_HUMAN	SCO1 cytochrome c oxidase assembly protein	25					cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|generation of precursor metabolites and energy (GO:0006091)|respiratory chain complex IV assembly (GO:0008535)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|myofibril (GO:0030016)	copper ion binding (GO:0005507)	p.R25G(2)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	10						TCGAGTCCGCGAGGCAAGAAG	0.667																																					Melanoma(128;591 1731 19711 31891 44645)												2	Substitution - Missense(2)	cervix(1)|lung(1)											17.0	17.0	17.0					17																	10600752		2202	4297	6499	SO:0001583	missense	6341			AF026852	CCDS11158.1	17p13.1	2012-10-15	2012-10-15		ENSG00000133028	ENSG00000133028		"""Mitochondrial respiratory chain complex assembly factors"""	10603	protein-coding gene	gene with protein product		603644	"""SCO (cytochrome oxidase deficient, yeast) homolog 1"", ""SCO cytochrome oxidase deficient homolog 1 (yeast)"""	SCOD1		9878253	Standard	NM_004589		Approved		uc002gmr.4	O75880	OTTHUMG00000130364	ENST00000255390.5:c.73C>G	17.37:g.10600752G>C	ENSP00000255390:p.Arg25Gly		B2RDM0	Missense_Mutation	SNP	pfam_SCO1/SenC,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,pirsf_Synth_of_cyt-c-oxidase_Sco1/2	p.R25G	ENST00000255390.5	37	c.73	CCDS11158.1	17	.	.	.	.	.	.	.	.	.	.	G	14.38	2.519164	0.44866	.	.	ENSG00000133028	ENST00000255390;ENST00000396047	D	0.85088	-1.94	4.42	0.0608	0.14337	.	0.699705	0.14305	N	0.328024	T	0.67961	0.2949	L	0.29908	0.895	0.09310	N	1	P;B	0.38827	0.649;0.291	B;B	0.29524	0.103;0.07	T	0.58945	-0.7546	10	0.42905	T	0.14	0.0127	3.2813	0.06916	0.1991:0.0:0.4367:0.3641	.	25;25	A8MY34;O75880	.;SCO1_HUMAN	G	25	ENSP00000255390:R25G	ENSP00000255390:R25G	R	-	1	0	SCO1	10541477	0.000000	0.05858	0.001000	0.08648	0.168000	0.22595	-0.014000	0.12656	0.065000	0.16485	0.655000	0.94253	CGC	SCO1	-	pirsf_Synth_of_cyt-c-oxidase_Sco1/2		0.667	SCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCO1	HGNC	protein_coding	OTTHUMT00000252729.2	G	NM_004589		10600752	-1	no_errors	ENST00000255390	ensembl	human	known	70_37	missense	SNP	0.001	C
SELL	6402	genome.wustl.edu	37	1	169677748	169677748	+	Silent	SNP	T	T	G			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr1:169677748T>G	ENST00000236147.4	-	3	481	c.321A>C	c.(319-321)atA>atC	p.I107I	SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	94	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|regulation of immune response (GO:0050776)|response to ATP (GO:0033198)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|protease binding (GO:0002020)	p.I94I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					ATATTCCTCCTATCTTCCGGA	0.453																																																	1	Substitution - coding silent(1)	cervix(1)											82.0	77.0	79.0					1																	169677748		1936	4141	6077	SO:0001819	synonymous_variant	6402			M25280	CCDS53427.1	1q23-q25	2008-07-31	2008-07-31		ENSG00000188404	ENSG00000188404		"""CD molecules"""	10720	protein-coding gene	gene with protein product		153240	"""lymphocyte adhesion molecule 1"""	LYAM1, LNHR		2664786, 1375831	Standard	NR_029467		Approved	LSEL, LAM1, LAM-1, hLHRc, Leu-8, Lyam-1, PLNHR, CD62L	uc001ggk.3	P14151	OTTHUMG00000034809	ENST00000236147.4:c.321A>C	1.37:g.169677748T>G			B2R6Q8|P15023|Q9UJ43	Silent	SNP	pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_C-type_lectin,smart_EG-like_dom,smart_Sushi_SCR_CCP,pirsf_L-selectin,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily	p.I107	ENST00000236147.4	37	c.321	CCDS53427.1	1																																																																																			SELL	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pirsf_L-selectin,pfscan_C-type_lectin		0.453	SELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SELL	HGNC	protein_coding	OTTHUMT00000084233.1	T	NM_000655		169677748	-1	no_errors	ENST00000236147	ensembl	human	known	70_37	silent	SNP	0.000	G
SERPINE2	5270	genome.wustl.edu	37	2	224866375	224866375	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr2:224866375C>T	ENST00000258405.4	-	2	485	c.243G>A	c.(241-243)atG>atA	p.M81I	SERPINE2_ENST00000409840.3_Missense_Mutation_p.M81I|SERPINE2_ENST00000409304.1_Missense_Mutation_p.M81I|SERPINE2_ENST00000447280.2_Missense_Mutation_p.M93I	NM_001136528.1|NM_006216.3	NP_001130000.1|NP_006207.1	P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	81					blood coagulation (GO:0007596)|cerebellar granular layer morphogenesis (GO:0021683)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|innervation (GO:0060384)|long-term synaptic potentiation (GO:0060291)|mating plug formation (GO:0042628)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein processing (GO:0010955)|negative regulation of proteolysis (GO:0045861)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of sodium ion transport (GO:0010766)|positive regulation of astrocyte differentiation (GO:0048711)|regulation of cell migration (GO:0030334)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of timing of cell differentiation (GO:0048505)|secretion by cell (GO:0032940)|secretory granule organization (GO:0033363)|seminal vesicle epithelium development (GO:0061108)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|neuromuscular junction (GO:0031594)|platelet alpha granule (GO:0031091)|vesicle (GO:0031982)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.M93I(1)|p.M81I(1)		breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CGCCGTATCTCATCACCATGG	0.557																																																	2	Substitution - Missense(2)	cervix(2)											73.0	64.0	67.0					2																	224866375		2203	4300	6503	SO:0001583	missense	5270			M17783	CCDS2460.1, CCDS46525.1, CCDS46526.1	2q36.1	2014-02-18	2005-08-18		ENSG00000135919	ENSG00000135919		"""Serine (or cysteine) peptidase inhibitors"""	8951	protein-coding gene	gene with protein product	"""glial-derived nexin 1"""	177010	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2"""	PI7		7665170, 24172014	Standard	NM_006216		Approved	PN1, GDN, PNI, nexin	uc002vnu.2	P07093	OTTHUMG00000133163	ENST00000258405.4:c.243G>A	2.37:g.224866375C>T	ENSP00000258405:p.Met81Ile		B2R6A4|B4DIF2|Q53S15|Q5D0C4	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.M81I	ENST00000258405.4	37	c.243	CCDS2460.1	2	.	.	.	.	.	.	.	.	.	.	C	18.30	3.593826	0.66219	.	.	ENSG00000135919	ENST00000409304;ENST00000258405;ENST00000409840;ENST00000447280;ENST00000432738;ENST00000454956	T;T;T;T;T;D	0.82167	2.03;-0.79;2.03;2.03;2.03;-1.58	5.67	5.67	0.87782	Serpin domain (3);	0.091054	0.85682	D	0.000000	D	0.86932	0.6052	L	0.50847	1.595	0.58432	D	0.999995	P;P	0.46706	0.883;0.883	P;P	0.53102	0.718;0.718	D	0.87157	0.2212	10	0.62326	D	0.03	.	19.7698	0.96359	0.0:1.0:0.0:0.0	.	93;81	B4DIF2;P07093	.;GDN_HUMAN	I	81;81;81;93;81;81	ENSP00000386412:M81I;ENSP00000258405:M81I;ENSP00000386969:M81I;ENSP00000415786:M93I;ENSP00000408452:M81I;ENSP00000399655:M81I	ENSP00000258405:M81I	M	-	3	0	SERPINE2	224574619	1.000000	0.71417	0.991000	0.47740	0.262000	0.26303	3.542000	0.53625	2.659000	0.90383	0.655000	0.94253	ATG	SERPINE2	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.557	SERPINE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SERPINE2	HGNC	protein_coding	OTTHUMT00000256865.2	C	NM_006216		224866375	-1	no_errors	ENST00000258405	ensembl	human	known	70_37	missense	SNP	1.000	T
SLC44A4	80736	genome.wustl.edu	37	6	31831514	31831514	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr6:31831514C>G	ENST00000229729.6	-	21	2043	c.2023G>C	c.(2023-2025)Gag>Cag	p.E675Q	SLC44A4_ENST00000544672.1_Missense_Mutation_p.E599Q|NEU1_ENST00000375631.4_5'Flank|SLC44A4_ENST00000375562.4_Missense_Mutation_p.E633Q	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	675					acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E675Q(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	TTGTTCCGCTCCAGGTCTTCC	0.597																																																	1	Substitution - Missense(1)	cervix(1)											41.0	44.0	43.0					6																	31831514		1509	2709	4218	SO:0001583	missense	80736			AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"""Solute carriers"""	13941	protein-coding gene	gene with protein product		606107	"""chromosome 6 open reading frame 29"""	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.2023G>C	6.37:g.31831514C>G	ENSP00000229729:p.Glu675Gln		A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	Missense_Mutation	SNP	pfam_Choline_transptr-like	p.E675Q	ENST00000229729.6	37	c.2023	CCDS4724.2	6	.	.	.	.	.	.	.	.	.	.	C	35	5.418834	0.96092	.	.	ENSG00000204385	ENST00000229729;ENST00000375562;ENST00000544672	T;T;T	0.25414	1.8;1.8;1.8	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.55940	0.1952	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64939	-0.6289	10	0.87932	D	0	-28.6037	18.1759	0.89761	0.0:1.0:0.0:0.0	.	675	Q53GD3	CTL4_HUMAN	Q	675;633;599	ENSP00000229729:E675Q;ENSP00000364712:E633Q;ENSP00000444109:E599Q	ENSP00000229729:E675Q	E	-	1	0	SLC44A4	31939493	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.209000	0.77916	2.826000	0.97356	0.655000	0.94253	GAG	SLC44A4	-	pfam_Choline_transptr-like		0.597	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SLC44A4	HGNC	protein_coding	OTTHUMT00000076234.3	C			31831514	-1	no_errors	ENST00000229729	ensembl	human	known	70_37	missense	SNP	1.000	G
SMARCA2	6595	genome.wustl.edu	37	9	2039779	2039779	+	Silent	SNP	G	G	A	rs376509101|rs62639301	byFrequency	TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr9:2039779G>A	ENST00000382203.1	+	4	878	c.669G>A	c.(667-669)caG>caA	p.Q223Q	RP11-264I13.2_ENST00000426860.1_RNA|SMARCA2_ENST00000357248.2_Silent_p.Q223Q|SMARCA2_ENST00000349721.2_Silent_p.Q223Q|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000382194.1_Silent_p.Q223Q			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	223	Poly-Gln.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		agcagcaacagcagcagcagc	0.642																																																	0													10.0	13.0	12.0					9																	2039779		2187	4260	6447	SO:0001819	synonymous_variant	6595			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.669G>A	9.37:g.2039779G>A			B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain	p.Q223	ENST00000382203.1	37	c.669	CCDS34977.1	9																																																																																			SMARCA2	-	NULL		0.642	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	SMARCA2	HGNC	protein_coding	OTTHUMT00000051505.1	G	NM_003070		2039779	+1	no_errors	ENST00000349721	ensembl	human	known	70_37	silent	SNP	0.625	A
SORCS3	22986	genome.wustl.edu	37	10	106976806	106976806	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr10:106976806G>A	ENST00000369701.3	+	19	2887	c.2660G>A	c.(2659-2661)gGg>gAg	p.G887E	SORCS3_ENST00000369699.4_Missense_Mutation_p.G173E	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	887	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.G887E(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AAGAGTGCGGGGATCTTCCAG	0.527																																					NSCLC(116;1497 1690 7108 13108 14106)												1	Substitution - Missense(1)	cervix(1)											186.0	144.0	158.0					10																	106976806		2203	4300	6503	SO:0001583	missense	22986			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2660G>A	10.37:g.106976806G>A	ENSP00000358715:p.Gly887Glu		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.G887E	ENST00000369701.3	37	c.2660	CCDS7558.1	10	.	.	.	.	.	.	.	.	.	.	G	31	5.095163	0.94197	.	.	ENSG00000156395	ENST00000369701;ENST00000369699	D;D	0.94497	-3.44;-3.44	5.87	5.87	0.94306	PKD domain (4);	0.000000	0.85682	D	0.000000	D	0.97213	0.9089	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96266	0.9195	9	.	.	.	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	887	Q9UPU3	SORC3_HUMAN	E	887;173	ENSP00000358715:G887E;ENSP00000358713:G173E	.	G	+	2	0	SORCS3	106966796	1.000000	0.71417	0.989000	0.46669	0.912000	0.54170	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	GGG	SORCS3	-	pfam_PKD_dom,superfamily_PKD_dom,pfscan_PKD_dom		0.527	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS3	HGNC	protein_coding	OTTHUMT00000050221.1	G	NM_014978		106976806	+1	no_errors	ENST00000369701	ensembl	human	known	70_37	missense	SNP	1.000	A
SPAG4	6676	genome.wustl.edu	37	20	34205119	34205119	+	Silent	SNP	G	G	C			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr20:34205119G>C	ENST00000374273.3	+	2	478	c.366G>C	c.(364-366)ctG>ctC	p.L122L	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)	p.L122L(1)		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)			CCCTGGATCTGAGGCAGGAGA	0.652																																																	1	Substitution - coding silent(1)	cervix(1)											27.0	28.0	27.0					20																	34205119		2203	4300	6503	SO:0001819	synonymous_variant	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.366G>C	20.37:g.34205119G>C			O43648	Silent	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.L122	ENST00000374273.3	37	c.366	CCDS13259.1	20																																																																																			SPAG4	-	NULL		0.652	SPAG4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	SPAG4	HGNC	protein_coding	OTTHUMT00000078896.1	G	NM_003116		34205119	+1	no_errors	ENST00000374273	ensembl	human	known	70_37	silent	SNP	1.000	C
SPAG4	6676	genome.wustl.edu	37	20	34205484	34205484	+	Missense_Mutation	SNP	G	G	A	rs375034562		TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr20:34205484G>A	ENST00000374273.3	+	3	564	c.452G>A	c.(451-453)gGa>gAa	p.G151E	SPAG4_ENST00000462896.1_3'UTR	NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	151					spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|motile cilium (GO:0031514)	structural molecule activity (GO:0005198)	p.G151E(1)		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)			TCCCTGGCAGGAGACGTGCTG	0.667																																																	1	Substitution - Missense(1)	cervix(1)						G	GLU/GLY	0,4406		0,0,2203	31.0	28.0	29.0		452	2.5	0.8	20		29	1,8599	1.2+/-3.3	0,1,4299	no	missense	SPAG4	NM_003116.1	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	151/438	34205484	1,13005	2203	4300	6503	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.452G>A	20.37:g.34205484G>A	ENSP00000363391:p.Gly151Glu		O43648	Missense_Mutation	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.G151E	ENST00000374273.3	37	c.452	CCDS13259.1	20	.	.	.	.	.	.	.	.	.	.	G	16.61	3.171648	0.57584	0.0	1.16E-4	ENSG00000061656	ENST00000374273;ENST00000454819	T;T	0.15017	2.46;2.46	4.5	2.52	0.30459	.	0.234704	0.30374	N	0.009780	T	0.17704	0.0425	M	0.65975	2.015	0.27623	N	0.948287	B;P	0.46706	0.361;0.883	B;B	0.41135	0.116;0.348	T	0.09796	-1.0658	10	0.49607	T	0.09	-14.9878	7.4919	0.27466	0.0:0.1829:0.6274:0.1897	.	26;151	C9JJZ6;Q9NPE6	.;SPAG4_HUMAN	E	151;26	ENSP00000363391:G151E;ENSP00000396670:G26E	ENSP00000363391:G151E	G	+	2	0	SPAG4	33668898	0.991000	0.36638	0.763000	0.31416	0.965000	0.64279	1.509000	0.35780	0.814000	0.34374	0.561000	0.74099	GGA	SPAG4	-	NULL		0.667	SPAG4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	SPAG4	HGNC	protein_coding	OTTHUMT00000078896.1	G	NM_003116		34205484	+1	no_errors	ENST00000374273	ensembl	human	known	70_37	missense	SNP	0.816	A
SPAG4	6676	genome.wustl.edu	37	20	34207117	34207117	+	Splice_Site	SNP	G	G	T			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr20:34207117G>T	ENST00000374273.3	+	9	906	c.794G>T	c.(793-795)gGa>gTa	p.G265V		NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	265	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|motile cilium (GO:0031514)	structural molecule activity (GO:0005198)	p.G265V(1)		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)			ACTGTTCCAGGAGCCTCCATC	0.657																																																	1	Substitution - Missense(1)	cervix(1)											106.0	108.0	107.0					20																	34207117		2203	4300	6503	SO:0001630	splice_region_variant	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.794-1G>T	20.37:g.34207117G>T			O43648	Missense_Mutation	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.G265V	ENST00000374273.3	37	c.794	CCDS13259.1	20	.	.	.	.	.	.	.	.	.	.	G	16.24	3.067957	0.55539	.	.	ENSG00000061656	ENST00000374273;ENST00000454819	D;D	0.85484	-1.99;-1.9	4.63	4.63	0.57726	Sad1/UNC-like, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92545	0.7632	M	0.87038	2.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93002	0.6424	9	.	.	.	.	13.1829	0.59666	0.0:0.0:1.0:0.0	.	140;265	C9JJZ6;Q9NPE6	.;SPAG4_HUMAN	V	265;140	ENSP00000363391:G265V;ENSP00000396670:G140V	.	G	+	2	0	SPAG4	33670531	1.000000	0.71417	1.000000	0.80357	0.306000	0.27790	4.550000	0.60733	2.579000	0.87056	0.462000	0.41574	GGA	SPAG4	-	NULL		0.657	SPAG4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	SPAG4	HGNC	protein_coding	OTTHUMT00000078896.1	G	NM_003116	Missense_Mutation	34207117	+1	no_errors	ENST00000374273	ensembl	human	known	70_37	missense	SNP	1.000	T
SPAG4	6676	genome.wustl.edu	37	20	34207230	34207230	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr20:34207230G>C	ENST00000374273.3	+	9	1019	c.907G>C	c.(907-909)Gag>Cag	p.E303Q		NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	303	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|motile cilium (GO:0031514)	structural molecule activity (GO:0005198)	p.E303Q(1)		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)			GGTTATCCTGGAGGTGAGTCT	0.617																																																	1	Substitution - Missense(1)	cervix(1)											70.0	71.0	71.0					20																	34207230		2203	4300	6503	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.907G>C	20.37:g.34207230G>C	ENSP00000363391:p.Glu303Gln		O43648	Missense_Mutation	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.E303Q	ENST00000374273.3	37	c.907	CCDS13259.1	20	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192888	0.58017	.	.	ENSG00000061656	ENST00000374273;ENST00000454819	T;T	0.41065	1.01;1.01	4.87	4.87	0.63330	Sad1/UNC-like, C-terminal (2);	0.123818	0.56097	D	0.000022	T	0.44829	0.1312	N	0.22421	0.69	0.40081	D	0.976135	P;D	0.56968	0.775;0.978	P;D	0.66602	0.651;0.945	T	0.13953	-1.0490	10	0.13108	T	0.6	-7.9922	13.7084	0.62654	0.0:0.0:1.0:0.0	.	178;303	C9JJZ6;Q9NPE6	.;SPAG4_HUMAN	Q	303;178	ENSP00000363391:E303Q;ENSP00000396670:E178Q	ENSP00000363391:E303Q	E	+	1	0	SPAG4	33670644	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	2.913000	0.48790	2.695000	0.91970	0.462000	0.41574	GAG	SPAG4	-	pfam_Sad1_UNC_C		0.617	SPAG4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	SPAG4	HGNC	protein_coding	OTTHUMT00000078896.1	G	NM_003116		34207230	+1	no_errors	ENST00000374273	ensembl	human	known	70_37	missense	SNP	1.000	C
SPTAN1	6709	genome.wustl.edu	37	9	131351132	131351132	+	Silent	SNP	C	C	G			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr9:131351132C>G	ENST00000372731.4	+	21	3026	c.2916C>G	c.(2914-2916)gtC>gtG	p.V972V	SPTAN1_ENST00000358161.5_Silent_p.V972V|SPTAN1_ENST00000372739.3_Silent_p.V972V	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	972	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.V972V(1)		NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AGGAGCTGGTCTTGGCTCTCT	0.507																																					NSCLC(120;833 1744 2558 35612 37579)												1	Substitution - coding silent(1)	cervix(1)											138.0	118.0	124.0					9																	131351132		2203	4300	6503	SO:0001819	synonymous_variant	6709			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.2916C>G	9.37:g.131351132C>G			Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Silent	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain	p.V972	ENST00000372731.4	37	c.2916	CCDS6905.1	9																																																																																			SPTAN1	-	superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain		0.507	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1	C	NM_003127		131351132	+1	no_errors	ENST00000358161	ensembl	human	known	70_37	silent	SNP	0.425	G
SPTY2D1	144108	genome.wustl.edu	37	11	18637159	18637159	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr11:18637159C>A	ENST00000336349.5	-	3	897	c.662G>T	c.(661-663)gGa>gTa	p.G221V	SPTY2D1_ENST00000543776.1_5'Flank	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	221								p.G221V(1)		breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						AGGTAGTTTTCCATCTGTCTC	0.443																																																	1	Substitution - Missense(1)	cervix(1)											192.0	191.0	191.0					11																	18637159		2199	4293	6492	SO:0001583	missense	144108			BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.662G>T	11.37:g.18637159C>A	ENSP00000337991:p.Gly221Val		Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Missense_Mutation	SNP	pfam_Chromatin_SPT2,smart_Chromatin_SPT2	p.G221V	ENST00000336349.5	37	c.662	CCDS31441.1	11	.	.	.	.	.	.	.	.	.	.	C	3.352	-0.132329	0.06753	.	.	ENSG00000179119	ENST00000336349;ENST00000333429	T	0.29397	1.57	5.85	-1.4	0.08968	.	0.834530	0.10995	N	0.611120	T	0.12689	0.0308	N	0.14661	0.345	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.25328	-1.0135	10	0.27082	T	0.32	0.7115	0.8405	0.01149	0.4182:0.12:0.2149:0.2469	.	221	Q68D10	SPT2_HUMAN	V	221	ENSP00000337991:G221V	ENSP00000331447:G221V	G	-	2	0	SPTY2D1	18593735	0.014000	0.17966	0.731000	0.30826	0.620000	0.37586	0.550000	0.23345	0.070000	0.16634	-1.208000	0.01637	GGA	SPTY2D1	-	NULL		0.443	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTY2D1	HGNC	protein_coding	OTTHUMT00000395941.1	C	NM_194285		18637159	-1	no_errors	ENST00000336349	ensembl	human	known	70_37	missense	SNP	0.001	A
SYT12	91683	genome.wustl.edu	37	11	66802123	66802123	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr11:66802123G>C	ENST00000393946.2	+	6	1204	c.42G>C	c.(40-42)aaG>aaC	p.K14N	SYT12_ENST00000526281.1_Intron|SYT12_ENST00000525457.1_Missense_Mutation_p.K14N|SYT12_ENST00000527043.1_Missense_Mutation_p.K14N			Q8IV01	SYT12_HUMAN	synaptotagmin XII	14						cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|synapse (GO:0045202)		p.K14N(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						CAGTCATCAAGAGCCCCCCTG	0.607																																					Ovarian(65;2862 3307)												1	Substitution - Missense(1)	cervix(1)											39.0	45.0	43.0					11																	66802123		2200	4295	6495	SO:0001583	missense	91683			AK024280	CCDS8154.1	11q13.2	2014-07-02			ENSG00000173227	ENSG00000173227		"""Synaptotagmins"""	18381	protein-coding gene	gene with protein product		606436				8987811	Standard	NM_177963		Approved	SRG1	uc001oju.3	Q8IV01	OTTHUMG00000167101	ENST00000393946.2:c.42G>C	11.37:g.66802123G>C	ENSP00000377520:p.Lys14Asn			Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.K14N	ENST00000393946.2	37	c.42	CCDS8154.1	11	.	.	.	.	.	.	.	.	.	.	G	14.69	2.609624	0.46527	.	.	ENSG00000173227	ENST00000393946;ENST00000525457;ENST00000527043;ENST00000533427	T;T;T	0.12147	2.71;2.71;2.71	4.94	4.94	0.65067	.	0.463445	0.22789	N	0.055638	T	0.08268	0.0206	N	0.14661	0.345	0.34974	D	0.753464	B	0.19583	0.037	B	0.14023	0.01	T	0.14172	-1.0482	10	0.40728	T	0.16	.	9.3269	0.37999	0.0982:0.0:0.9018:0.0	.	14	Q8IV01	SYT12_HUMAN	N	14	ENSP00000377520:K14N;ENSP00000431400:K14N;ENSP00000435316:K14N	ENSP00000377520:K14N	K	+	3	2	SYT12	66558699	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.608000	0.24223	2.276000	0.75962	0.563000	0.77884	AAG	SYT12	-	NULL		0.607	SYT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT12	HGNC	protein_coding	OTTHUMT00000393129.1	G	NM_177963		66802123	+1	no_errors	ENST00000393946	ensembl	human	known	70_37	missense	SNP	1.000	C
TAF9B	51616	genome.wustl.edu	37	X	77387268	77387268	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chrX:77387268G>A	ENST00000341864.5	-	7	689	c.595C>T	c.(595-597)Cct>Tct	p.P199S		NM_015975.4	NP_057059.2	Q9HBM6	TAF9B_HUMAN	TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa	199					DNA-templated transcription, initiation (GO:0006352)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell growth (GO:0030307)|programmed cell death (GO:0012501)|protein stabilization (GO:0050821)|response to organic cyclic compound (GO:0014070)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	transcription corepressor activity (GO:0003714)	p.P199S(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	14						GTTGTTGCAGGAACTGTAAAC	0.373																																																	1	Substitution - Missense(1)	cervix(1)											104.0	97.0	99.0					X																	77387268		2203	4296	6499	SO:0001583	missense	51616			AF220509	CCDS35340.1	Xq13.1-q21.1	2010-08-16	2006-01-04	2006-01-04	ENSG00000187325	ENSG00000187325			17306	protein-coding gene	gene with protein product		300754	"""TAF9-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa"""	TAF9L		15899866	Standard	XM_005262142		Approved	TAFII31L, DN-7, DN7, TFIID-31	uc004eda.3	Q9HBM6	OTTHUMG00000021887	ENST00000341864.5:c.595C>T	X.37:g.77387268G>A	ENSP00000339917:p.Pro199Ser		B2RUZ9|Q9Y2S3	Missense_Mutation	SNP	pfam_TFIID-31,superfamily_Histone-fold	p.P199S	ENST00000341864.5	37	c.595	CCDS35340.1	X	.	.	.	.	.	.	.	.	.	.	G	14.36	2.511698	0.44660	.	.	ENSG00000187325	ENST00000341864	T	0.14144	2.53	4.22	4.22	0.49857	.	0.060156	0.64402	D	0.000002	T	0.28632	0.0709	L	0.52011	1.625	0.52099	D	0.999943	D	0.57571	0.98	D	0.70227	0.968	T	0.01068	-1.1462	10	0.34782	T	0.22	-3.56	13.0432	0.58913	0.0:0.0:1.0:0.0	.	199	Q9HBM6	TAF9B_HUMAN	S	199	ENSP00000339917:P199S	ENSP00000339917:P199S	P	-	1	0	TAF9B	77273924	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	5.096000	0.64535	1.930000	0.55929	0.422000	0.28245	CCT	TAF9B	-	NULL		0.373	TAF9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF9B	HGNC	protein_coding	OTTHUMT00000057308.1	G	NM_015975		77387268	-1	no_errors	ENST00000341864	ensembl	human	known	70_37	missense	SNP	1.000	A
TCEB3B	51224	genome.wustl.edu	37	18	44561020	44561020	+	Silent	SNP	G	G	A			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr18:44561020G>A	ENST00000332567.4	-	1	968	c.616C>T	c.(616-618)Ctg>Ttg	p.L206L	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	206					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L206L(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGACACAGCAGAGGCCCGCCC	0.682																																																	1	Substitution - coding silent(1)	cervix(1)											25.0	27.0	27.0					18																	44561020		2203	4298	6501	SO:0001819	synonymous_variant	51224			BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.616C>T	18.37:g.44561020G>A			Q9P2V9	Silent	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.L206	ENST00000332567.4	37	c.616	CCDS11932.1	18																																																																																			TCEB3B	-	NULL		0.682	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB3B	HGNC	protein_coding	OTTHUMT00000255900.1	G	NM_016427		44561020	-1	no_errors	ENST00000332567	ensembl	human	known	70_37	silent	SNP	0.000	A
TCL1B	9623	genome.wustl.edu	37	14	96152916	96152916	+	Missense_Mutation	SNP	C	C	T	rs75572239		TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr14:96152916C>T	ENST00000340722.7	+	1	163	c.112C>T	c.(112-114)Cgg>Tgg	p.R38W	RP11-1070N10.6_ENST00000461160.1_RNA	NM_004918.3	NP_004909.1	O95988	TCL1B_HUMAN	T-cell leukemia/lymphoma 1B	38								p.R38W(1)		cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		TGTGGTCGTGCGGTTCAATCC	0.657																																																	1	Substitution - Missense(1)	cervix(1)											91.0	82.0	85.0					14																	96152916		2203	4300	6503	SO:0001583	missense	9623			AB018563	CCDS32151.1	14q32.1	2008-09-05			ENSG00000213231	ENSG00000213231			11649	protein-coding gene	gene with protein product		603769				10077617	Standard	NM_004918		Approved	TML1	uc001yez.3	O95988	OTTHUMG00000028912	ENST00000340722.7:c.112C>T	14.37:g.96152916C>T	ENSP00000343223:p.Arg38Trp		A6NEK7|Q6IAR7|Q9UBQ4	Missense_Mutation	SNP	pfam_TCL1_MTCP1,superfamily_TCL1_MTCP1	p.R38W	ENST00000340722.7	37	c.112	CCDS32151.1	14	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	13.43	2.236259	0.39498	.	.	ENSG00000213231	ENST00000340722;ENST00000538038	T	0.32023	1.47	2.88	-1.09	0.09904	.	.	.	.	.	T	0.25306	0.0615	L	0.51422	1.61	0.09310	N	1	B	0.14438	0.01	B	0.16722	0.016	T	0.32877	-0.9890	9	0.87932	D	0	.	6.1796	0.20463	0.0:0.4734:0.0:0.5266	.	38	O95988	TCL1B_HUMAN	W	38	ENSP00000343223:R38W	ENSP00000343223:R38W	R	+	1	2	TCL1B	95222669	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-1.033000	0.03571	-0.257000	0.09459	-0.391000	0.06502	CGG	TCL1B	-	pfam_TCL1_MTCP1,superfamily_TCL1_MTCP1		0.657	TCL1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCL1B	HGNC	protein_coding	OTTHUMT00000315123.2	C			96152916	+1	no_errors	ENST00000340722	ensembl	human	known	70_37	missense	SNP	0.000	T
TGIF2	60436	genome.wustl.edu	37	20	35207246	35207246	+	Silent	SNP	G	G	A			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr20:35207246G>A	ENST00000373874.2	+	2	268	c.69G>A	c.(67-69)ggG>ggA	p.G23G	TGIF2-C20orf24_ENST00000558530.1_Silent_p.G23G|TGIF2_ENST00000373872.4_Silent_p.G23G|RP5-977B1.11_ENST00000561134.1_RNA	NM_001199514.1|NM_001199515.1	NP_001186443.1|NP_001186444.1	Q9GZN2	TGIF2_HUMAN	TGFB-induced factor homeobox 2	23					gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nodal signaling pathway (GO:0038092)|positive regulation of neuron differentiation (GO:0045666)|regulation of gastrulation (GO:0010470)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G23G(1)		cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				AGCGCAGGGGGAACCTGCCCA	0.607																																																	1	Substitution - coding silent(1)	cervix(1)											119.0	107.0	111.0					20																	35207246		2203	4300	6503	SO:0001819	synonymous_variant	60436			AB042646	CCDS13278.1	20q11.23	2012-12-12	2007-02-07		ENSG00000118707	ENSG00000118707		"""Homeoboxes / TALE class"""	15764	protein-coding gene	gene with protein product		607294	"""TGFB-induced factor 2 (TALE family homeobox)"""			11006116	Standard	NM_021809		Approved		uc021wcv.1	Q9GZN2	OTTHUMG00000172332	ENST00000373874.2:c.69G>A	20.37:g.35207246G>A			B2R9U3|E1P5T9|H0YNI0	Silent	SNP	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.G23	ENST00000373874.2	37	c.69	CCDS13278.1	20																																																																																			TGIF2	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.607	TGIF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TGIF2	HGNC	protein_coding	OTTHUMT00000079004.2	G	NM_021809		35207246	+1	no_errors	ENST00000373872	ensembl	human	known	70_37	silent	SNP	0.993	A
TGIF2	60436	genome.wustl.edu	37	20	35207325	35207325	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr20:35207325G>A	ENST00000373874.2	+	2	347	c.148G>A	c.(148-150)Gag>Aag	p.E50K	TGIF2-C20orf24_ENST00000558530.1_Missense_Mutation_p.E50K|TGIF2_ENST00000373872.4_Missense_Mutation_p.E50K|RP5-977B1.11_ENST00000561134.1_RNA	NM_001199514.1|NM_001199515.1	NP_001186443.1|NP_001186444.1	Q9GZN2	TGIF2_HUMAN	TGFB-induced factor homeobox 2	50					gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nodal signaling pathway (GO:0038092)|positive regulation of neuron differentiation (GO:0045666)|regulation of gastrulation (GO:0010470)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E50K(1)		cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				CTCAGAGCAGGAGAAGCTGAG	0.582																																																	1	Substitution - Missense(1)	cervix(1)											110.0	90.0	97.0					20																	35207325		2203	4300	6503	SO:0001583	missense	60436			AB042646	CCDS13278.1	20q11.23	2012-12-12	2007-02-07		ENSG00000118707	ENSG00000118707		"""Homeoboxes / TALE class"""	15764	protein-coding gene	gene with protein product		607294	"""TGFB-induced factor 2 (TALE family homeobox)"""			11006116	Standard	NM_021809		Approved		uc021wcv.1	Q9GZN2	OTTHUMG00000172332	ENST00000373874.2:c.148G>A	20.37:g.35207325G>A	ENSP00000362981:p.Glu50Lys		B2R9U3|E1P5T9|H0YNI0	Missense_Mutation	SNP	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.E50K	ENST00000373874.2	37	c.148	CCDS13278.1	20	.	.	.	.	.	.	.	.	.	.	G	35	5.421691	0.96111	.	.	ENSG00000118707	ENST00000373874;ENST00000373872	D;D	0.85629	-2.01;-2.01	5.01	5.01	0.66863	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.93086	0.7799	M	0.87381	2.88	0.33311	D	0.566053	D	0.89917	1.0	D	0.91635	0.999	D	0.96132	0.9093	10	0.87932	D	0	-26.1498	15.8254	0.78703	0.0:0.0:1.0:0.0	.	50	Q9GZN2	TGIF2_HUMAN	K	50	ENSP00000362981:E50K;ENSP00000362979:E50K	ENSP00000362979:E50K	E	+	1	0	TGIF2	34640739	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.327000	0.96396	2.316000	0.78162	0.561000	0.74099	GAG	TGIF2	-	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.582	TGIF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TGIF2	HGNC	protein_coding	OTTHUMT00000079004.2	G	NM_021809		35207325	+1	no_errors	ENST00000373872	ensembl	human	known	70_37	missense	SNP	1.000	A
TGIF2	60436	genome.wustl.edu	37	20	35207333	35207333	+	Silent	SNP	G	G	A			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr20:35207333G>A	ENST00000373874.2	+	2	355	c.156G>A	c.(154-156)ctG>ctA	p.L52L	TGIF2-C20orf24_ENST00000558530.1_Silent_p.L52L|TGIF2_ENST00000373872.4_Silent_p.L52L|RP5-977B1.11_ENST00000561134.1_RNA	NM_001199514.1|NM_001199515.1	NP_001186443.1|NP_001186444.1	Q9GZN2	TGIF2_HUMAN	TGFB-induced factor homeobox 2	52					gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nodal signaling pathway (GO:0038092)|positive regulation of neuron differentiation (GO:0045666)|regulation of gastrulation (GO:0010470)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L52L(1)		cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				AGGAGAAGCTGAGCCTTTCTG	0.587																																																	1	Substitution - coding silent(1)	cervix(1)											105.0	86.0	92.0					20																	35207333		2203	4300	6503	SO:0001819	synonymous_variant	60436			AB042646	CCDS13278.1	20q11.23	2012-12-12	2007-02-07		ENSG00000118707	ENSG00000118707		"""Homeoboxes / TALE class"""	15764	protein-coding gene	gene with protein product		607294	"""TGFB-induced factor 2 (TALE family homeobox)"""			11006116	Standard	NM_021809		Approved		uc021wcv.1	Q9GZN2	OTTHUMG00000172332	ENST00000373874.2:c.156G>A	20.37:g.35207333G>A			B2R9U3|E1P5T9|H0YNI0	Silent	SNP	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.L52	ENST00000373874.2	37	c.156	CCDS13278.1	20																																																																																			TGIF2	-	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.587	TGIF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TGIF2	HGNC	protein_coding	OTTHUMT00000079004.2	G	NM_021809		35207333	+1	no_errors	ENST00000373872	ensembl	human	known	70_37	silent	SNP	1.000	A
TMEM99	147184	genome.wustl.edu	37	17	38990881	38990881	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr17:38990881C>T	ENST00000301665.3	+	3	417	c.113C>T	c.(112-114)tCa>tTa	p.S38L		NM_001195386.1|NM_001195387.1|NM_145274.3	NP_001182315.1|NP_001182316.1|NP_660317.2	Q8N816	TMM99_HUMAN	transmembrane protein 99	38						integral component of membrane (GO:0016021)		p.S38L(1)		cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1)	10		Breast(137;0.000301)				GTTCCTCATTCAGCTGGTCAC	0.522																																																	1	Substitution - Missense(1)	cervix(1)											122.0	118.0	119.0					17																	38990881		2041	4190	6231	SO:0001583	missense	147184			AK097454	CCDS42319.1	17q21.2	2008-11-06			ENSG00000167920	ENSG00000167920			28305	protein-coding gene	gene with protein product						12477932	Standard	NM_001195386		Approved	MGC21518	uc021txc.1	Q8N816	OTTHUMG00000133579	ENST00000301665.3:c.113C>T	17.37:g.38990881C>T	ENSP00000301665:p.Ser38Leu		B4DQ34|Q96BP9	Missense_Mutation	SNP	NULL	p.S38L	ENST00000301665.3	37	c.113	CCDS42319.1	17	.	.	.	.	.	.	.	.	.	.	C	7.787	0.710690	0.15239	.	.	ENSG00000167920	ENST00000436612;ENST00000301665	T;T	0.29142	1.58;1.58	0.225	0.225	0.15325	.	.	.	.	.	T	0.20536	0.0494	N	0.08118	0	0.09310	N	1	P	0.37500	0.597	P	0.46110	0.504	T	0.26780	-1.0093	8	0.87932	D	0	.	.	.	.	.	38	Q8N816	TMM99_HUMAN	L	38	ENSP00000390036:S38L;ENSP00000301665:S38L	ENSP00000301665:S38L	S	+	2	0	TMEM99	36244407	0.024000	0.19004	0.171000	0.22900	0.173000	0.22820	0.281000	0.18810	0.300000	0.22699	0.305000	0.20034	TCA	TMEM99	-	NULL		0.522	TMEM99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM99	HGNC	protein_coding	OTTHUMT00000257681.1	C	NM_145274		38990881	+1	no_errors	ENST00000301665	ensembl	human	known	70_37	missense	SNP	0.198	T
TRMT13	54482	genome.wustl.edu	37	1	100608696	100608696	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr1:100608696G>C	ENST00000370141.2	+	8	679	c.673G>C	c.(673-675)Gat>Cat	p.D225H	TRMT13_ENST00000493651.1_3'UTR	NM_019083.2	NP_061956.2	Q9NUP7	TRM13_HUMAN	tRNA methyltransferase 13 homolog (S. cerevisiae)	225					tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.D225H(1)									TGTGCAGGTGGATGGAAAACA	0.284																																																	1	Substitution - Missense(1)	cervix(1)											85.0	83.0	84.0					1																	100608696		2203	4298	6501	SO:0001583	missense	54482			BC075811	CCDS765.1	1p21.2	2012-06-07	2012-06-07	2012-06-07	ENSG00000122435	ENSG00000122435			25502	protein-coding gene	gene with protein product			"""coiled-coil domain containing 76"""	CCDC76		11799066	Standard	NM_019083		Approved	FLJ10287, FLJ11219	uc001dsv.3	Q9NUP7	OTTHUMG00000010841	ENST00000370141.2:c.673G>C	1.37:g.100608696G>C	ENSP00000359160:p.Asp225His		Q5VVL0|Q9NW65	Missense_Mutation	SNP	pfam_Methyltransferase_TRM13,pfam_Znf_CCCH-type_TRM13,pfam_TRM13/UPF0224_CHHC_Znf_dom	p.D225H	ENST00000370141.2	37	c.673	CCDS765.1	1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.423780	0.83667	.	.	ENSG00000122435	ENST00000370141	T	0.65732	-0.17	5.31	5.31	0.75309	Methyltransferase TRM13 (1);	0.000000	0.85682	D	0.000000	D	0.83179	0.5198	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.87598	0.2495	10	0.87932	D	0	-23.9584	18.967	0.92700	0.0:0.0:1.0:0.0	.	211;225	B4DQS9;Q9NUP7	.;TRM13_HUMAN	H	225	ENSP00000359160:D225H	ENSP00000359160:D225H	D	+	1	0	CCDC76	100381284	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.355000	0.90083	2.486000	0.83907	0.650000	0.86243	GAT	TRMT13	-	pfam_Methyltransferase_TRM13		0.284	TRMT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT13	HGNC	protein_coding	OTTHUMT00000029919.1	G	NM_019083		100608696	+1	no_errors	ENST00000370141	ensembl	human	known	70_37	missense	SNP	1.000	C
TTN	7273	genome.wustl.edu	37	2	179613392	179613392	+	Intron	SNP	A	A	G			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr2:179613392A>G	ENST00000591111.1	-	45	10585				TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.F4579L|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin						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)			TGAGTGTGAAACTGCTTTAAG	0.333																																																	0													119.0	126.0	124.0					2																	179613392		2203	4300	6503	SO:0001627	intron_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+4458T>C	2.37:g.179613392A>G			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	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.F4579L	ENST00000591111.1	37	c.13735		2	.	.	.	.	.	.	.	.	.	.	A	7.165	0.586577	0.13749	.	.	ENSG00000155657	ENST00000360870	T	0.57107	0.42	5.27	2.78	0.32641	.	.	.	.	.	T	0.26882	0.0658	.	.	.	0.09310	N	1	B	0.33171	0.4	B	0.26969	0.075	T	0.09487	-1.0672	8	0.16896	T	0.51	.	3.0114	0.06045	0.6219:0.1209:0.0758:0.1814	.	4579	Q8WZ42-6	.	L	4579	ENSP00000354117:F4579L	ENSP00000354117:F4579L	F	-	1	0	TTN	179321637	0.000000	0.05858	0.725000	0.30721	0.789000	0.44602	0.290000	0.18975	1.033000	0.39918	0.533000	0.62120	TTT	TTN	-	NULL		0.333	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	A	NM_133378		179613392	-1	no_errors	ENST00000360870	ensembl	human	known	70_37	missense	SNP	0.001	G
TTN	7273	genome.wustl.edu	37	2	179641169	179641169	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr2:179641169C>T	ENST00000591111.1	-	28	5646	c.5422G>A	c.(5422-5424)Gag>Aag	p.E1808K	TTN_ENST00000342175.6_Missense_Mutation_p.E1762K|TTN_ENST00000359218.5_Missense_Mutation_p.E1762K|TTN_ENST00000360870.5_Missense_Mutation_p.E1808K|TTN_ENST00000589042.1_Missense_Mutation_p.E1808K|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E1762K|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E1808K|RP11-88L24.4_ENST00000582038.2_RNA			Q8WZ42	TITIN_HUMAN	titin	12636					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)	p.E1762K(3)|p.E1808K(3)		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)			TTCCTCCCCTCAGGCAATTGG	0.408																																																	6	Substitution - Missense(6)	cervix(6)											116.0	119.0	118.0					2																	179641169		2203	4300	6503	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.5422G>A	2.37:g.179641169C>T	ENSP00000465570:p.Glu1808Lys		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	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E1808K	ENST00000591111.1	37	c.5422		2	.	.	.	.	.	.	.	.	.	.	C	14.00	2.404946	0.42613	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.64438	-0.1;0.14;0.11;0.1;0.31	5.08	5.08	0.68730	Ribonuclease H-like (1);	.	.	.	.	T	0.67401	0.2889	L	0.34521	1.04	0.42132	D	0.99147	B;B;P;B;D	0.59357	0.189;0.189;0.457;0.189;0.985	B;B;B;B;P	0.56612	0.081;0.081;0.081;0.081;0.802	T	0.72253	-0.4347	9	0.87932	D	0	.	18.4712	0.90776	0.0:1.0:0.0:0.0	.	1762;1762;1762;1808;1808	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	K	1808;1762;1762;1762;1762;1808	ENSP00000343764:E1808K;ENSP00000434586:E1762K;ENSP00000340554:E1762K;ENSP00000352154:E1762K;ENSP00000354117:E1808K	ENSP00000340554:E1762K	E	-	1	0	TTN	179349414	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.757000	0.85209	2.376000	0.81061	0.655000	0.94253	GAG	TTN	-	superfamily_RNaseH-like_dom		0.408	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179641169	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T
TUBA8	51807	genome.wustl.edu	37	22	18609338	18609338	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr22:18609338C>G	ENST00000330423.3	+	4	666	c.593C>G	c.(592-594)tCa>tGa	p.S198*	TUBA8_ENST00000316027.6_Nonsense_Mutation_p.S132*	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	198					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.S198*(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						CTGGAACATTCAGATTGTGCT	0.542																																																	1	Substitution - Nonsense(1)	cervix(1)											161.0	142.0	148.0					22																	18609338		2203	4300	6503	SO:0001587	stop_gained	51807			AJ245922	CCDS13751.1, CCDS54495.1	22q11	2005-06-11			ENSG00000183785	ENSG00000183785		"""Tubulins"""	12410	protein-coding gene	gene with protein product		605742		TUBAL2		10772959, 10591208	Standard	NM_001193414		Approved		uc002znv.2	Q9NY65	OTTHUMG00000150097	ENST00000330423.3:c.593C>G	22.37:g.18609338C>G	ENSP00000333326:p.Ser198*		B2RCX2|B3KPW9|B4DWG3|Q2M3N4	Nonsense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.S198*	ENST00000330423.3	37	c.593	CCDS13751.1	22	.	.	.	.	.	.	.	.	.	.	.	37	6.367684	0.97511	.	.	ENSG00000183785	ENST00000316027;ENST00000330423;ENST00000416740	.	.	.	5.67	5.67	0.87782	.	0.062605	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.1191	0.93355	0.0:1.0:0.0:0.0	.	.	.	.	X	132;198;222	.	ENSP00000318575:S132X	S	+	2	0	TUBA8	16989338	1.000000	0.71417	0.970000	0.41538	0.942000	0.58702	7.818000	0.86416	2.837000	0.97791	0.655000	0.94253	TCA	TUBA8	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin		0.542	TUBA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA8	HGNC	protein_coding	OTTHUMT00000316232.3	C	NM_018943		18609338	+1	no_errors	ENST00000330423	ensembl	human	known	70_37	nonsense	SNP	1.000	G
TUBGCP5	114791	genome.wustl.edu	37	15	22849171	22849171	+	Intron	SNP	G	G	A			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr15:22849171G>A	ENST00000283645.4	+	10	1298				TUBGCP5_ENST00000559846.1_3'UTR|TUBGCP5_ENST00000453949.2_Intron	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5						G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		CTCATAATTTGAATGCCACTT	0.274																																																	0													15.0	15.0	15.0					15																	22849171		2200	4290	6490	SO:0001627	intron_variant	114791			AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"""gamma-tubulin complex component GCP5"""	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.1168+50G>A	15.37:g.22849171G>A			E9PB12|Q6IQ52|Q96PY8	RNA	SNP	-	NULL	ENST00000283645.4	37	NULL	CCDS10008.1	15																																																																																			TUBGCP5	-	-		0.274	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP5	HGNC	protein_coding	OTTHUMT00000250998.2	G	NM_052903		22849171	+1	no_errors	ENST00000559846	ensembl	human	known	70_37	rna	SNP	0.003	A
UBR4	23352	genome.wustl.edu	37	1	19484358	19484358	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr1:19484358G>C	ENST00000375254.3	-	40	5738	c.5711C>G	c.(5710-5712)tCt>tGt	p.S1904C	UBR4_ENST00000375267.2_Missense_Mutation_p.S1904C|UBR4_ENST00000375226.2_Missense_Mutation_p.S1904C|UBR4_ENST00000375217.2_Missense_Mutation_p.S1904C	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1904					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S1904C(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CCCATGGGGAGAGGAGAGCAC	0.542																																																	1	Substitution - Missense(1)	cervix(1)											136.0	130.0	132.0					1																	19484358		2203	4300	6503	SO:0001583	missense	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.5711C>G	1.37:g.19484358G>C	ENSP00000364403:p.Ser1904Cys		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.S1904C	ENST00000375254.3	37	c.5711	CCDS189.1	1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.955117	0.92726	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;3.06	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.49695	0.1572	L	0.59436	1.845	0.80722	D	1	D	0.69078	0.997	D	0.73708	0.981	T	0.49952	-0.8884	10	0.87932	D	0	.	19.1006	0.93272	0.0:0.0:1.0:0.0	.	1904	Q5T4S7	UBR4_HUMAN	C	1904;1904;1904;1904;614;1120	ENSP00000364403:S1904C;ENSP00000364416:S1904C;ENSP00000364365:S1904C;ENSP00000364374:S1904C;ENSP00000404897:S614C	ENSP00000364365:S1904C	S	-	2	0	UBR4	19356945	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	9.447000	0.97595	2.503000	0.84419	0.591000	0.81541	TCT	UBR4	-	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold		0.542	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	G	NM_020765		19484358	-1	no_errors	ENST00000375267	ensembl	human	known	70_37	missense	SNP	1.000	C
UMODL1	89766	genome.wustl.edu	37	21	43524176	43524176	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr21:43524176C>T	ENST00000408910.2	+	9	1498	c.1498C>T	c.(1498-1500)Cgg>Tgg	p.R500W	UMODL1_ENST00000400427.1_Missense_Mutation_p.R428W|UMODL1_ENST00000400424.2_Missense_Mutation_p.R428W|UMODL1_ENST00000408989.2_Missense_Mutation_p.R500W|C21orf128_ENST00000329015.2_Intron	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	500	SEA 1. {ECO:0000255|PROSITE- ProRule:PRU00188}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)	p.R428W(1)|p.R500W(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CCAGATTGACCGGCAGGGGAC	0.607																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)												2	Substitution - Missense(2)	cervix(2)											60.0	62.0	62.0					21																	43524176		2203	4300	6503	SO:0001583	missense	89766				CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1498C>T	21.37:g.43524176C>T	ENSP00000386147:p.Arg500Trp		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	pfam_ZP_dom,pfam_SEA,pfam_EGF-like_Ca-bd,pfam_EMI_domain,pfam_Whey_acidic_protein_4-diS_core,superfamily_Fibronectin_type3,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_EGF-like_Ca-bd,smart_Fibronectin_type3,smart_ZP_dom,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_ZP_dom,prints_ZP_dom	p.R500W	ENST00000408910.2	37	c.1498	CCDS42936.1	21	.	.	.	.	.	.	.	.	.	.	c	14.97	2.693909	0.48202	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	T;T;T;T	0.72394	-0.64;-0.65;-0.64;-0.63	3.67	2.79	0.32731	.	0.924080	0.08961	N	0.868718	T	0.56140	0.1965	N	0.22421	0.69	0.58432	D	0.999999	B;B;B	0.26775	0.035;0.159;0.012	B;B;B	0.22753	0.012;0.041;0.028	T	0.50110	-0.8866	10	0.45353	T	0.12	-1.5389	9.3268	0.37997	0.0:0.895:0.0:0.105	.	428;500;500	Q5DID0-3;Q5DID0-2;Q5DID0	.;.;UROL1_HUMAN	W	428;428;500;500	ENSP00000383279:R428W;ENSP00000383276:R428W;ENSP00000386126:R500W;ENSP00000386147:R500W	ENSP00000383276:R428W	R	+	1	2	UMODL1	42397245	0.941000	0.31946	0.525000	0.27900	0.322000	0.28314	2.264000	0.43302	1.133000	0.42147	-0.119000	0.15052	CGG	UMODL1	-	NULL		0.607	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UMODL1	HGNC	protein_coding	OTTHUMT00000195292.2	C			43524176	+1	no_errors	ENST00000408989	ensembl	human	known	70_37	missense	SNP	0.757	T
UPF1	5976	genome.wustl.edu	37	19	18967005	18967005	+	Silent	SNP	C	C	T			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr19:18967005C>T	ENST00000599848.1	+	13	1962	c.1753C>T	c.(1753-1755)Ctg>Ttg	p.L585L	UPF1_ENST00000262803.5_Silent_p.L574L			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	585					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.L574L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CATGCCTGAGCTGCAGAAGCT	0.607																																																	1	Substitution - coding silent(1)	cervix(1)											49.0	48.0	49.0					19																	18967005		2203	4300	6503	SO:0001819	synonymous_variant	5976			AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"""UP Frameshift 1"", ""smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	601430	"""regulator of nonsense transcripts 1"""	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.1753C>T	19.37:g.18967005C>T			O00239|O43343|Q86Z25|Q92842	Silent	SNP	pfam_RNA-helicase_UPF1_UPF2-interct,pfam_Helicase/UvrB_dom	p.L585	ENST00000599848.1	37	c.1753		19																																																																																			UPF1	-	pfam_Helicase/UvrB_dom		0.607	UPF1-002	KNOWN	basic	protein_coding	UPF1	HGNC	protein_coding	OTTHUMT00000464684.1	C	NM_002911		18967005	+1	no_errors	ENST00000599848	ensembl	human	known	70_37	silent	SNP	1.000	T
USP26	83844	genome.wustl.edu	37	X	132161099	132161099	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chrX:132161099G>A	ENST00000511190.1	-	6	1619	c.1150C>T	c.(1150-1152)Cat>Tat	p.H384Y	USP26_ENST00000406273.1_Missense_Mutation_p.H384Y|USP26_ENST00000370832.1_Missense_Mutation_p.H384Y	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	384	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.H384Y(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					AAAAACTCATGAGCATCGTTC	0.358																																					NSCLC(104;342 1621 36940 47097 52632)												1	Substitution - Missense(1)	cervix(1)											81.0	78.0	79.0					X																	132161099		2203	4299	6502	SO:0001583	missense	83844			AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.1150C>T	X.37:g.132161099G>A	ENSP00000423390:p.His384Tyr		B9WRT6|Q5H9H4	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.H384Y	ENST00000511190.1	37	c.1150	CCDS14635.1	X	.	.	.	.	.	.	.	.	.	.	g	14.01	2.408194	0.42715	.	.	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	T;T;T	0.75938	-0.98;-0.98;-0.98	3.47	2.61	0.31194	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.50627	D	0.000113	D	0.84316	0.5445	M	0.82716	2.605	0.31809	N	0.627372	D	0.89917	1.0	D	0.97110	1.0	D	0.84328	0.0520	10	0.87932	D	0	-11.7775	8.4179	0.32683	0.124:0.0:0.876:0.0	.	384	Q9BXU7	UBP26_HUMAN	Y	384	ENSP00000359869:H384Y;ENSP00000423390:H384Y;ENSP00000384360:H384Y	ENSP00000359869:H384Y	H	-	1	0	USP26	131988765	1.000000	0.71417	0.997000	0.53966	0.394000	0.30568	6.024000	0.70857	0.849000	0.35215	0.519000	0.50382	CAT	USP26	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.358	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP26	HGNC	protein_coding	OTTHUMT00000359441.1	G	NM_031907		132161099	-1	no_errors	ENST00000370832	ensembl	human	known	70_37	missense	SNP	1.000	A
ZFHX3	463	genome.wustl.edu	37	16	72828798	72828798	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr16:72828798G>A	ENST00000268489.5	-	9	8455	c.7783C>T	c.(7783-7785)Cag>Tag	p.Q2595*	ZFHX3_ENST00000397992.5_Nonsense_Mutation_p.Q1681*	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2595					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q2595*(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCTGGAATCTGAGGTATGGCC	0.552																																																	1	Substitution - Nonsense(1)	cervix(1)											100.0	102.0	101.0					16																	72828798		2198	4300	6498	SO:0001587	stop_gained	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.7783C>T	16.37:g.72828798G>A	ENSP00000268489:p.Gln2595*		D3DWS8|O15101|Q13719	Nonsense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.Q2595*	ENST00000268489.5	37	c.7783	CCDS10908.1	16	.	.	.	.	.	.	.	.	.	.	G	51	17.338961	0.99884	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	.	.	.	5.64	5.64	0.86602	.	0.000000	0.47455	D	0.000221	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	19.683	0.95971	0.0:0.0:1.0:0.0	.	.	.	.	X	2595;1681	.	ENSP00000268489:Q2595X	Q	-	1	0	ZFHX3	71386299	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.876000	0.87215	2.653000	0.90120	0.561000	0.74099	CAG	ZFHX3	-	NULL		0.552	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	G	NM_006885		72828798	-1	no_errors	ENST00000268489	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ZNF827	152485	genome.wustl.edu	37	4	146791581	146791581	+	Silent	SNP	C	C	T			TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr4:146791581C>T	ENST00000508784.1	-	5	2024	c.1797G>A	c.(1795-1797)gaG>gaA	p.E599E	ZNF827_ENST00000379448.4_Silent_p.E599E|ZNF827_ENST00000513320.1_Silent_p.E249E|ZNF827_ENST00000511534.1_5'UTR			Q17R98	ZN827_HUMAN	zinc finger protein 827	599					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E599E(2)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					CTTCCTTAGGCTCCTCTTTCA	0.483																																																	2	Substitution - coding silent(2)	cervix(2)											70.0	78.0	75.0					4																	146791581		2203	4300	6503	SO:0001819	synonymous_variant	152485			AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.1797G>A	4.37:g.146791581C>T			B7ZL52|Q7Z4S7|Q8N279	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E599	ENST00000508784.1	37	c.1797		4																																																																																			ZNF827	-	NULL		0.483	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZNF827	HGNC	protein_coding	OTTHUMT00000364654.2	C	NM_178835		146791581	-1	no_errors	ENST00000508784	ensembl	human	known	70_37	silent	SNP	1.000	T
ZSCAN22	342945	genome.wustl.edu	37	19	58846567	58846567	+	Missense_Mutation	SNP	G	G	C	rs377682416		TCGA-FU-A23K-01A-11D-A16O-08	TCGA-FU-A23K-10A-01D-A16O-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b6c8c42-616c-4135-82db-91575d2dda1d	be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5	g.chr19:58846567G>C	ENST00000329665.4	+	2	546	c.399G>C	c.(397-399)aaG>aaC	p.K133N		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	133					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K133N(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		TGCTGGACAAGAGAGGTAAAG	0.622																																																	1	Substitution - Missense(1)	cervix(1)											26.0	24.0	25.0					19																	58846567		2195	4293	6488	SO:0001583	missense	342945			M20675	CCDS12975.1	19q13.43	2013-01-08	2006-09-20	2006-09-20				"""-"", ""Zinc fingers, C2H2-type"""	4929	protein-coding gene	gene with protein product	"""oncogene HKR2"""	165260	"""zinc finger protein 50"", ""GLI-Kruppel family member HKR2"""	ZNF50, HKR2		2850480, 1505991	Standard	NM_181846		Approved		uc002qsc.2	P10073		ENST00000329665.4:c.399G>C	19.37:g.58846567G>C	ENSP00000332433:p.Lys133Asn		Q15922|Q7Z3L8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.K133N	ENST00000329665.4	37	c.399	CCDS12975.1	19	.	.	.	.	.	.	.	.	.	.	G	7.023	0.559165	0.13436	.	.	ENSG00000182318	ENST00000329665	T	0.05855	3.38	4.34	3.29	0.37713	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (2);	.	.	.	.	T	0.07908	0.0198	L	0.45137	1.4	0.26116	N	0.980614	P	0.37914	0.611	B	0.40444	0.329	T	0.23655	-1.0182	9	0.32370	T	0.25	.	10.2913	0.43596	0.0:0.2007:0.7993:0.0	.	133	P10073	ZSC22_HUMAN	N	133	ENSP00000332433:K133N	ENSP00000332433:K133N	K	+	3	2	ZSCAN22	63538379	0.941000	0.31946	0.546000	0.28166	0.112000	0.19704	2.041000	0.41213	1.163000	0.42636	0.655000	0.94253	AAG	ZSCAN22	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN		0.622	ZSCAN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN22	HGNC	protein_coding	OTTHUMT00000466765.1	G	NM_181846		58846567	+1	no_errors	ENST00000329665	ensembl	human	known	70_37	missense	SNP	0.708	C
