#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_annotation_transcript	i_build	i_ccds_id	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_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_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
AADAC	13	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	151545364	151545364	+	Splice_Site	SNP	C	C	G			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr3:151545364C>G	ENST00000232892.7	+	5	730	c.604C>G	c.(604-606)Ctc>Gtc	p.L202V	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	202					positive regulation of triglyceride catabolic process (GO:0010898)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|deacetylase activity (GO:0019213)|lipase activity (GO:0016298)|serine hydrolase activity (GO:0017171)|triglyceride lipase activity (GO:0004806)	p.L202V(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TGCTTCTCAGCTCCTTGATGA	0.328																																					Ovarian(30;839 841 2699 32801 46334)												1	Substitution - Missense(1)	kidney(1)											73.0	72.0	72.0					3																	151545364		2203	4300	6503	SO:0001630	splice_region_variant	13			L32179	CCDS33877.1	3q25.1	2014-03-18	2012-07-13		ENSG00000114771	ENSG00000114771	3.1.1.3		17	protein-coding gene	gene with protein product		600338	"""arylacetamide deacetylase (esterase)"""			8063807	Standard	XM_005247103		Approved	DAC, CES5A1	uc003eze.3	P22760	OTTHUMG00000159876	ENST00000232892.7:c.604-1C>G	3.37:g.151545364C>G			A8K3L3|D3DNJ6|Q8N1A9	Missense_Mutation	SNP	ENST00000232892.7	37	CCDS33877.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.003901	0.35320	.	.	ENSG00000114771	ENST00000232892	T	0.60299	0.2	4.67	3.78	0.43462	Alpha/beta hydrolase fold-3 (1);	0.064498	0.64402	D	0.000006	T	0.57257	0.2041	M	0.67953	2.075	0.80722	D	1	B	0.29531	0.247	B	0.33960	0.173	T	0.54364	-0.8305	9	.	.	.	-0.0126	14.2341	0.65913	0.15:0.85:0.0:0.0	.	202	P22760	AAAD_HUMAN	V	202	ENSP00000232892:L202V	.	L	+	1	0	AADAC	153028054	0.897000	0.30589	0.780000	0.31762	0.667000	0.39255	-0.016000	0.12613	0.895000	0.36342	0.591000	0.81541	CTC		0.328	AADAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357883.2		NM_001086	Missense_Mutation
ABCB5	340273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	20682904	20682904	+	Silent	SNP	A	A	C			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr7:20682904A>C	ENST00000404938.2	+	6	1064	c.412A>C	c.(412-414)Agg>Cgg	p.R138R		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	138	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)	p.R138R(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						ACAGACCAAGAGGATTCGAAA	0.423																																																	1	Substitution - coding silent(1)	kidney(1)											98.0	82.0	87.0					7																	20682904		1568	3582	5150	SO:0001819	synonymous_variant	340273			U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.412A>C	7.37:g.20682904A>C			A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Silent	SNP	ENST00000404938.2	37	CCDS55090.1																																																																																				0.423	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2		NM_178559	
AHCYL2	23382	broad.mit.edu	37	7	128865042	128865042	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr7:128865042delC	ENST00000325006.3	+	1	179	c.125delC	c.(124-126)gccfs	p.A42fs	AHCYL2_ENST00000446544.2_Frame_Shift_Del_p.A42fs	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	42					one-carbon metabolic process (GO:0006730)		adenosylhomocysteinase activity (GO:0004013)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						GGCGCCATGGCCCCCCCGGCG	0.786																																					Pancreas(160;1736 1964 29875 40941 45605)												0									,	14,2870		2,10,1430	4.0	5.0	4.0		,	2.5	0.8	7		4	32,6120		4,24,3048	no	frameshift,frameshift	AHCYL2	NM_015328.3,NM_001130720.2	,	6,34,4478	A1A1,A1R,RR		0.5202,0.4854,0.5091	,	,	128865042	46,8990	1736	3581	5317	SO:0001589	frameshift_variant	23382			AB020635	CCDS5812.1, CCDS47706.1, CCDS47707.1, CCDS47708.1, CCDS47707.2	7q32.1	2009-06-12	2009-06-12		ENSG00000158467	ENSG00000158467			22204	protein-coding gene	gene with protein product			"""S-adenosylhomocysteine hydrolase-like 2"""				Standard	NM_001130720		Approved	KIAA0828	uc011kov.2	Q96HN2	OTTHUMG00000157677	ENST00000325006.3:c.125delC	7.37:g.128865042delC	ENSP00000315931:p.Ala42fs		B4DIZ5|D9N155|O94917	Frame_Shift_Del	DEL	ENST00000325006.3	37	CCDS5812.1																																																																																				0.786	AHCYL2-012	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354065.1			
AGAP3	116988	broad.mit.edu	37	7	150825758	150825758	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr7:150825758A>C	ENST00000463381.1	+	10	1125	c.629A>C	c.(628-630)cAc>cCc	p.H210P	AGAP3_ENST00000397238.2_Missense_Mutation_p.H438P	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	402	Small GTPase-like.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)	p.H438P(1)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						CTCACCTATCACCCCAGCCTG	0.587																																																	1	Substitution - Missense(1)	kidney(1)											55.0	60.0	58.0					7																	150825758		2001	4155	6156	SO:0001583	missense	116988			AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.629A>C	7.37:g.150825758A>C	ENSP00000418016:p.His210Pro		B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	ENST00000463381.1	37		.	.	.	.	.	.	.	.	.	.	A	21.7	4.183337	0.78677	.	.	ENSG00000133612	ENST00000463381;ENST00000397238;ENST00000335355	T;T	0.17054	2.3;2.3	5.26	5.26	0.73747	.	0.128547	0.51477	D	0.000082	T	0.44705	0.1306	M	0.79805	2.47	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.998;0.999	T	0.49031	-0.8981	10	0.87932	D	0	.	14.3791	0.66900	1.0:0.0:0.0:0.0	.	438;210	Q96P47-4;B3KNZ8	.;.	P	210;438;402	ENSP00000418016:H210P;ENSP00000380413:H438P	ENSP00000334157:H402P	H	+	2	0	AGAP3	150456691	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.262000	0.95591	1.996000	0.58369	0.533000	0.62120	CAC		0.587	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2		NM_031946	
AMOTL2	51421	hgsc.bcm.edu	37	3	134079242	134079243	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr3:134079242_134079243insC	ENST00000422605.2	-	7	1754_1755	c.1588_1589insG	c.(1588-1590)gccfs	p.A530fs	AMOTL2_ENST00000249883.5_Frame_Shift_Ins_p.A530fs|AMOTL2_ENST00000513145.1_Frame_Shift_Ins_p.A528fs|AMOTL2_ENST00000514516.1_Frame_Shift_Ins_p.A588fs			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	530					hippo signaling (GO:0035329)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|tight junction (GO:0005923)				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						ACCACCTGGGGCACCTGCCTGT	0.619																																																	0																																										SO:0001589	frameshift_variant	51421			AF175966	CCDS33860.1, CCDS63783.1, CCDS63784.1	3q21-q22	2008-07-18			ENSG00000114019	ENSG00000114019			17812	protein-coding gene	gene with protein product	"""Leman coiled-coil protein"", ""angiomotin-like protein 2"""	614658					Standard	NM_016201		Approved	LCCP	uc003eqg.1	Q9Y2J4	OTTHUMG00000159777	ENST00000422605.2:c.1589dupG	3.37:g.134079243_134079243dupC	ENSP00000409999:p.Ala530fs		A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Frame_Shift_Ins	INS	ENST00000422605.2	37																																																																																					0.619	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358149.1		NM_016201	
ATM	472	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	108196255	108196255	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr11:108196255C>T	ENST00000452508.2	+	47	6980	c.6791C>T	c.(6790-6792)aCt>aTt	p.T2264I	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.T2264I			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2264	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.T2264I(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CTGGCCAGAACTTTCAAGAAC	0.348			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	2	Substitution - Missense(2)	kidney(2)											77.0	75.0	76.0					11																	108196255		2201	4298	6499	SO:0001583	missense	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.6791C>T	11.37:g.108196255C>T	ENSP00000388058:p.Thr2264Ile		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.265351	0.59431	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.69806	-0.43;-0.43	5.41	5.41	0.78517	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-type fold (1);	0.335430	0.35407	N	0.003223	T	0.66934	0.2840	L	0.51422	1.61	0.80722	D	1	D	0.54601	0.967	P	0.51657	0.676	T	0.65549	-0.6141	10	0.38643	T	0.18	.	9.5278	0.39175	0.0:0.7811:0.1438:0.0751	.	2264	Q13315	ATM_HUMAN	I	2264	ENSP00000278616:T2264I;ENSP00000388058:T2264I	ENSP00000278616:T2264I	T	+	2	0	ATM	107701465	0.998000	0.40836	1.000000	0.80357	0.963000	0.63663	2.680000	0.46918	2.691000	0.91804	0.655000	0.94253	ACT		0.348	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1		NM_000051	
BRD4	23476	hgsc.bcm.edu	37	19	15383793	15383796	+	Frame_Shift_Del	DEL	CGTT	CGTT	-	rs56036027	byFrequency	TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	CGTT	CGTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr19:15383793_15383796delCGTT	ENST00000263377.2	-	2	336_339	c.115_118delAACG	c.(115-120)aacgcafs	p.NA39fs	BRD4_ENST00000360016.5_Frame_Shift_Del_p.NA39fs|BRD4_ENST00000371835.4_Frame_Shift_Del_p.NA39fs	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	39					cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GTGCTGGCTGCGTTGGCTGGCTGG	0.583			T	C15orf55	lethal midline carcinoma of young people																																			Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	0																																										SO:0001589	frameshift_variant	23476			Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.115_118delAACG	19.37:g.15383793_15383796delCGTT	ENSP00000263377:p.Asn39fs		O60433|Q4G0X8|Q86YS8|Q96PD3	Frame_Shift_Del	DEL	ENST00000263377.2	37	CCDS12328.1																																																																																				0.583	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3		NM_058243	
SLX4IP	128710	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	10604013	10604013	+	Nonsense_Mutation	SNP	G	G	T	rs373901401		TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr20:10604013G>T	ENST00000334534.5	+	8	1393	c.1213G>T	c.(1213-1215)Gaa>Taa	p.E405*		NM_001009608.1	NP_001009608.1	Q5VYV7	SLX4I_HUMAN	SLX4 interacting protein	405								p.E405*(1)									AAAGAAATACGAAAGAGGCCA	0.448																																																	1	Substitution - Nonsense(1)	kidney(1)											40.0	42.0	41.0					20																	10604013		2202	4297	6499	SO:0001587	stop_gained	0			AL035456	CCDS33439.1	20p12	2012-10-30	2012-10-30	2012-10-30	ENSG00000149346	ENSG00000149346			16225	protein-coding gene	gene with protein product		615958	"""chromosome 20 open reading frame 94"""	C20orf94		19596235	Standard	XM_005260664		Approved	dJ1099D15.3	uc010zre.2	Q5VYV7	OTTHUMG00000031873	ENST00000334534.5:c.1213G>T	20.37:g.10604013G>T	ENSP00000335557:p.Glu405*		Q05CG2|Q05CT9	Nonsense_Mutation	SNP	ENST00000334534.5	37	CCDS33439.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.464085	0.43736	.	.	ENSG00000149346	ENST00000334534	.	.	.	3.49	-0.832	0.10785	.	2.149940	0.02129	N	0.056225	.	.	.	.	.	.	0.20307	N	0.999918	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	0.4618	2.3964	0.04391	0.3357:0.0:0.207:0.4573	.	.	.	.	X	405	.	ENSP00000335557:E405X	E	+	1	0	C20orf94	10552013	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.249000	0.08842	-0.092000	0.12417	0.650000	0.86243	GAA		0.448	SLX4IP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078000.3		NM_001009608	
CCNF	899	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	2506955	2506955	+	Silent	SNP	G	G	A			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr16:2506955G>A	ENST00000397066.4	+	17	2383	c.2295G>A	c.(2293-2295)gtG>gtA	p.V765V	RP11-715J22.4_ENST00000566085.1_lincRNA	NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	765	PEST.				mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)		p.V765V(2)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				AGCAACAGGTGAAGCGGATAA	0.557																																																	2	Substitution - coding silent(2)	kidney(2)											81.0	69.0	73.0					16																	2506955		2198	4300	6498	SO:0001819	synonymous_variant	899			Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"""F-boxes /  ""other"""""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.2295G>A	16.37:g.2506955G>A			B2R8H3|Q96EG9	Silent	SNP	ENST00000397066.4	37	CCDS10467.1																																																																																				0.557	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250801.1		NM_001761	
CIC	23152	hgsc.bcm.edu	37	19	42795826	42795827	+	Frame_Shift_Del	DEL	GG	GG	-	rs374527943|rs200818391	byFrequency	TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	GG	GG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr19:42795826_42795827delGG	ENST00000575354.2	+	11	2855_2856	c.2815_2816delGG	c.(2815-2817)ggcfs	p.G939fs	CIC_ENST00000572681.2_Frame_Shift_Del_p.G1848fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.G939fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	939	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TGGAGGGGCCGGCCAGCCACTG	0.693			"""Mis, F, S"""		oligodendroglioma																																			Rec	yes		19	19q13.2	23152	capicua homolog		O	0																																										SO:0001589	frameshift_variant	23152			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.2815_2816delGG	19.37:g.42795826_42795827delGG	ENSP00000458663:p.Gly939fs		Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	CCDS12601.1																																																																																				0.693	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			
DNAH17	8632	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	76506511	76506511	+	Silent	SNP	G	G	T			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr17:76506511G>T	ENST00000585328.1	-	27	4306	c.4182C>A	c.(4180-4182)gtC>gtA	p.V1394V	DNAH17_ENST00000389840.5_Silent_p.V1393V	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1393	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.V1394V(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CGATGTTGCGGACCTCATCCT	0.532																																																	1	Substitution - coding silent(1)	kidney(1)											164.0	166.0	165.0					17																	76506511		2091	4210	6301	SO:0001819	synonymous_variant	8632			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.4182C>A	17.37:g.76506511G>T			O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37																																																																																					0.532	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2		NM_173628	
FAM155A	728215	broad.mit.edu;ucsc.edu	37	13	108518837	108518837	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr13:108518837C>G	ENST00000375915.2	-	1	246	c.108G>C	c.(106-108)caG>caC	p.Q36H		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	36						integral component of membrane (GO:0016021)		p.Q36H(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GTCGCCATTTCTGAGCCCTCT	0.562																																																	1	Substitution - Missense(1)	kidney(1)											162.0	171.0	168.0					13																	108518837		2203	4300	6503	SO:0001583	missense	728215			L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.108G>C	13.37:g.108518837C>G	ENSP00000365080:p.Gln36His		B2RUV1|B7Z334	Missense_Mutation	SNP	ENST00000375915.2	37	CCDS32006.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052153	0.75960	.	.	ENSG00000204442	ENST00000375915	.	.	.	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.75265	0.3826	L	0.50333	1.59	0.50313	D	0.999869	D	0.67145	0.996	D	0.79784	0.993	T	0.77874	-0.2425	9	0.87932	D	0	.	17.5823	0.87972	0.0:1.0:0.0:0.0	.	36	B1AL88	F155A_HUMAN	H	36	.	ENSP00000365080:Q36H	Q	-	3	2	FAM155A	107316838	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.436000	0.66538	2.390000	0.81377	0.650000	0.86243	CAG		0.562	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2		NM_001080396	
FMN2	56776	hgsc.bcm.edu	37	1	240371034	240371034	+	Silent	SNP	A	A	C	rs150102515		TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr1:240371034A>C	ENST00000319653.9	+	5	3152	c.2922A>C	c.(2920-2922)ggA>ggC	p.G974G		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	974	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCGGAGCAGGAATACCTCCTC	0.706																																																	0													22.0	23.0	23.0					1																	240371034		2200	4296	6496	SO:0001819	synonymous_variant	56776			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2922A>C	1.37:g.240371034A>C			B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	CCDS31069.2																																																																																				0.706	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2		XM_371352	
GLT8D2	83468	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	104387219	104387219	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr12:104387219A>C	ENST00000360814.4	-	10	1236	c.831T>G	c.(829-831)ttT>ttG	p.F277L	GLT8D2_ENST00000548660.1_Missense_Mutation_p.F277L|GLT8D2_ENST00000546436.1_Missense_Mutation_p.F277L	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	277						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.F277L(1)		kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						ATTTCCCATGAAACACAATCA	0.423																																																	1	Substitution - Missense(1)	kidney(1)											64.0	65.0	64.0					12																	104387219		2203	4300	6503	SO:0001583	missense	83468			BC022343	CCDS9096.1	12q23.3	2013-02-22			ENSG00000120820	ENSG00000120820		"""Glycosyltransferase family 8 domain containing"""	24890	protein-coding gene	gene with protein product							Standard	NM_031302		Approved	FLJ31494	uc001tkh.1	Q9H1C3	OTTHUMG00000170120	ENST00000360814.4:c.831T>G	12.37:g.104387219A>C	ENSP00000354053:p.Phe277Leu		Q96KA2	Missense_Mutation	SNP	ENST00000360814.4	37	CCDS9096.1	.	.	.	.	.	.	.	.	.	.	A	15.95	2.983283	0.53827	.	.	ENSG00000120820	ENST00000360814;ENST00000546436;ENST00000548660	T;T;T	0.57907	0.37;0.37;0.37	5.44	-5.83	0.02325	.	0.000000	0.85682	D	0.000000	T	0.59459	0.2195	L	0.43152	1.355	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.64918	-0.6294	10	0.51188	T	0.08	.	16.6385	0.85065	0.4819:0.0:0.5181:0.0	.	277	Q9H1C3	GL8D2_HUMAN	L	277	ENSP00000354053:F277L;ENSP00000449750:F277L;ENSP00000447450:F277L	ENSP00000354053:F277L	F	-	3	2	GLT8D2	102911349	1.000000	0.71417	0.145000	0.22337	0.407000	0.30961	1.299000	0.33424	-2.103000	0.00844	-1.937000	0.00501	TTT		0.423	GLT8D2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407371.1		NM_031302	
IGDCC3	9543	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	65621770	65621770	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr15:65621770G>T	ENST00000327987.4	-	13	2414	c.2163C>A	c.(2161-2163)ttC>ttA	p.F721L	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	721					neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)		p.F721L(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGGCCGGGGGGAACAGCTGCT	0.637																																																	1	Substitution - Missense(1)	kidney(1)											70.0	84.0	79.0					15																	65621770		2198	4292	6490	SO:0001583	missense	9543			AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	protein-coding gene	gene with protein product		604184	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.2163C>A	15.37:g.65621770G>T	ENSP00000332773:p.Phe721Leu		O95215	Missense_Mutation	SNP	ENST00000327987.4	37	CCDS10205.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.249881	0.59212	.	.	ENSG00000174498	ENST00000327987;ENST00000443278	T	0.67345	-0.26	5.95	3.06	0.35304	.	0.063222	0.64402	D	0.000004	T	0.52419	0.1733	L	0.29908	0.895	0.42328	D	0.992287	P	0.41393	0.748	B	0.38842	0.283	T	0.53129	-0.8482	10	0.72032	D	0.01	-20.8609	10.1511	0.42794	0.2065:0.0:0.7935:0.0	.	721	Q8IVU1	IGDC3_HUMAN	L	721;545	ENSP00000332773:F721L	ENSP00000332773:F721L	F	-	3	2	IGDCC3	63408823	1.000000	0.71417	0.972000	0.41901	0.471000	0.32888	0.884000	0.28214	0.412000	0.25729	0.655000	0.94253	TTC		0.637	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1		NM_004884	
IL1RL2	8808	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	102851636	102851636	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr2:102851636delC	ENST00000264257.2	+	11	1703	c.1577delC	c.(1576-1578)accfs	p.T526fs	IL1RL2_ENST00000441515.2_Frame_Shift_Del_p.T408fs|IL1RL2_ENST00000539491.1_Frame_Shift_Del_p.T526fs|IL1RL2_ENST00000481806.1_3'UTR	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	526	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TGTATGAAGACCAAGTTTTGG	0.547											OREG0014848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													113.0	102.0	106.0					2																	102851636		2203	4300	6503	SO:0001589	frameshift_variant	8808			U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.1577delC	2.37:g.102851636delC	ENSP00000264257:p.Thr526fs	1369	A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Frame_Shift_Del	DEL	ENST00000264257.2	37	CCDS2056.1																																																																																				0.547	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1		NM_003854	
KCNJ12	3768	hgsc.bcm.edu	37	17	21318741	21318741	+	Silent	SNP	C	C	T	rs75113504	byFrequency	TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr17:21318741C>T	ENST00000583088.1	+	3	982	c.87C>T	c.(85-87)aaC>aaT	p.N29N	KCNJ12_ENST00000331718.5_Silent_p.N29N	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	29					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	CGGGCGCCAACGGCTTCGGCA	0.652										Prostate(3;0.18)																																							0								C		846,3560		0,846,1357	81.0	69.0	73.0		87	-6.0	0.9	17	dbSNP_131	73	1238,7362		0,1238,3062	no	coding-synonymous	KCNJ12	NM_021012.4		0,2084,4419	TT,TC,CC		14.3953,19.2011,16.0234		29/434	21318741	2084,10922	2203	4300	6503	SO:0001819	synonymous_variant	3768			L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.87C>T	17.37:g.21318741C>T			O43401|Q15756|Q8NG63	Silent	SNP	ENST00000583088.1	37	CCDS11219.1																																																																																				0.652	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2		NM_021012	
IST1	9798	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	71961539	71961539	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr16:71961539C>G	ENST00000329908.8	+	10	982	c.920C>G	c.(919-921)cCt>cGt	p.P307R	PKD1L3_ENST00000534738.1_RNA|IST1_ENST00000378799.6_Silent_p.A308A|IST1_ENST00000606369.1_Silent_p.A160A|IST1_ENST00000378798.5_Silent_p.A277A|IST1_ENST00000535424.1_Silent_p.A321A|IST1_ENST00000544564.1_Silent_p.A308A|IST1_ENST00000538565.1_3'UTR|IST1_ENST00000541571.2_Silent_p.A308A|IST1_ENST00000538850.1_Silent_p.A160A|RP11-498D10.5_ENST00000567146.1_RNA|RP11-498D10.6_ENST00000573861.1_RNA	NM_001270975.1|NM_014761.3	NP_001257904.1|NP_055576.2	P53990	IST1_HUMAN	increased sodium tolerance 1 homolog (yeast)	0	Interaction with VTA1.				abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of proteolysis (GO:0045862)|protein localization (GO:0008104)|viral capsid secondary envelopment (GO:0046745)|viral release from host cell (GO:0019076)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Flemming body (GO:0090543)|midbody (GO:0030496)	MIT domain binding (GO:0090541)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)	p.P307R(1)									AGCCAGAAGCCTCTGCAAAGC	0.468																																																	1	Substitution - Missense(1)	kidney(1)											142.0	144.0	144.0					16																	71961539		2198	4300	6498	SO:0001583	missense	0			BC004359	CCDS10905.1, CCDS59271.1, CCDS59272.1, CCDS59273.1, CCDS59274.1	16q22.2	2011-08-18	2011-08-18	2011-08-18	ENSG00000182149	ENSG00000182149			28977	protein-coding gene	gene with protein product			"""KIAA0174"""	KIAA0174		8724849, 19129480	Standard	NM_001270975		Approved		uc002fbm.2	P53990	OTTHUMG00000137597	ENST00000329908.8:c.920C>G	16.37:g.71961539C>G	ENSP00000330408:p.Pro307Arg		A8KAH5|J3QLU7|Q3SYM4|Q9BQ81|Q9BWN2	Missense_Mutation	SNP	ENST00000329908.8	37	CCDS10905.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.96|11.96	1.793322|1.793322	0.31685|0.31685	.|.	.|.	ENSG00000182149|ENSG00000182149	ENST00000541848|ENST00000329908	.|.	.|.	.|.	5.33|5.33	-0.365|-0.365	0.12549|0.12549	.|.	.|.	.|.	.|.	.|.	T|T	0.44201|0.44201	0.1282|0.1282	.|.	.|.	.|.	0.45883|0.45883	D|D	0.998733|0.998733	.|B	.|0.18863	.|0.031	.|B	.|0.28465	.|0.09	T|T	0.24154|0.24154	-1.0168|-1.0168	4|7	.|0.48119	.|T	.|0.1	-2.0504|-2.0504	5.0764|5.0764	0.14634|0.14634	0.1341:0.4304:0.0:0.4354|0.1341:0.4304:0.0:0.4354	.|.	.|307	.|P53990-3	.|.	V|R	163|307	.|.	.|ENSP00000330408:P307R	L|P	+|+	1|2	0|0	KIAA0174|KIAA0174	70519040|70519040	0.006000|0.006000	0.16342|0.16342	0.820000|0.820000	0.32676|0.32676	0.916000|0.916000	0.54674|0.54674	-0.012000|-0.012000	0.12699|0.12699	-0.050000|-0.050000	0.13356|0.13356	0.650000|0.650000	0.86243|0.86243	CTC|CCT		0.468	IST1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269006.1		NM_014761	
KLF8	11279	broad.mit.edu	37	X	56310756	56310756	+	Silent	SNP	T	T	G			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chrX:56310756T>G	ENST00000468660.1	+	6	1197	c.909T>G	c.(907-909)ccT>ccG	p.P303P	KLF8_ENST00000374928.3_Missense_Mutation_p.L257V	NM_007250.4	NP_009181.2	O95600	KLF8_HUMAN	Kruppel-like factor 8	303					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.P303P(1)		kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						GAGAGAAGCCTTATAAATGCA	0.443																																																	1	Substitution - coding silent(1)	kidney(1)											31.0	29.0	29.0					X																	56310756		2203	4296	6499	SO:0001819	synonymous_variant	11279			U28282	CCDS14373.1, CCDS55428.1	Xp11.21	2013-01-08			ENSG00000102349	ENSG00000102349		"""Zinc fingers, C2H2-type"", ""Kruppel-like transcription factors"""	6351	protein-coding gene	gene with protein product		300286					Standard	NM_007250		Approved	BKLF3, ZNF741, DXS741	uc004dur.3	O95600	OTTHUMG00000021666	ENST00000468660.1:c.909T>G	X.37:g.56310756T>G			B4DJN3|E7EQQ8|L0R3U8|L0R4U2|Q2M246|Q59GV5|Q5HYQ5|Q5JXP7|Q6MZJ7|Q9UGC4	Silent	SNP	ENST00000468660.1	37	CCDS14373.1	.	.	.	.	.	.	.	.	.	.	T	13.46	2.243818	0.39697	.	.	ENSG00000102349	ENST00000374928	.	.	.	3.87	2.56	0.30785	.	.	.	.	.	T	0.25044	0.0608	.	.	.	0.09310	N	0.999995	P	0.35745	0.518	B	0.32533	0.147	T	0.18681	-1.0329	7	0.72032	D	0.01	.	5.6083	0.17391	0.3934:0.0:0.0:0.6066	.	257	E7EQQ8	.	V	257	.	ENSP00000364063:L257V	L	+	1	2	KLF8	56327481	0.087000	0.21565	1.000000	0.80357	0.988000	0.76386	-0.924000	0.03996	1.554000	0.49487	0.479000	0.44913	TTA		0.443	KLF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056887.2		NM_007250	
GUSBP11	91316	broad.mit.edu	37	22	23980988	23980988	+	RNA	SNP	G	G	A			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr22:23980988G>A	ENST00000455485.1	-	0	3501				KB-1572G7.3_ENST00000390329.3_RNA|AP000347.4_ENST00000430707.2_RNA			Q6P575	BGP11_HUMAN	glucuronidase, beta pseudogene 11						carbohydrate metabolic process (GO:0005975)		hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)										TCTGGGTGATGAGGGTACCAT	0.567																																																	0																																												0					22q11.23	2011-06-09			ENSG00000228315	ENSG00000228315			42325	pseudogene	pseudogene							Standard	NR_024448		Approved		uc011aiz.2	Q6P575	OTTHUMG00000150709		22.37:g.23980988G>A				RNA	SNP	ENST00000455485.1	37																																																																																					0.567	GUSBP11-005	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000319697.1			
LTA4H	4048	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	96414872	96414872	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr12:96414872delA	ENST00000228740.2	-	6	770	c.629delT	c.(628-630)ttafs	p.L210fs	LTA4H_ENST00000413268.2_Frame_Shift_Del_p.L186fs|LTA4H_ENST00000552789.1_Frame_Shift_Del_p.L186fs	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	210					arachidonic acid metabolic process (GO:0019369)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|peptide catabolic process (GO:0043171)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|leukotriene-A4 hydrolase activity (GO:0004463)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12					Captopril(DB01197)	CCTGCTTTCTAAAGCTCCAAC	0.398																																																	0													92.0	85.0	87.0					12																	96414872		2203	4300	6503	SO:0001589	frameshift_variant	4048			BC032528	CCDS9059.1, CCDS58266.1, CCDS58267.1	12q22	2005-10-06				ENSG00000111144	3.3.2.6		6710	protein-coding gene	gene with protein product		151570				7628486	Standard	NM_000895		Approved		uc001ten.2	P09960	OTTHUMG00000170355	ENST00000228740.2:c.629delT	12.37:g.96414872delA	ENSP00000228740:p.Leu210fs		B4DNQ9|F8VV40|Q6IAT6|Q9UCT7	Frame_Shift_Del	DEL	ENST00000228740.2	37	CCDS9059.1																																																																																				0.398	LTA4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408655.1		NM_000895	
MECOM	2122	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	168833806	168833806	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr3:168833806C>A	ENST00000464456.1	-	7	2490	c.1290G>T	c.(1288-1290)atG>atT	p.M430I	MECOM_ENST00000468789.1_Missense_Mutation_p.M430I|MECOM_ENST00000472280.1_Missense_Mutation_p.M431I|MECOM_ENST00000460814.1_Missense_Mutation_p.M430I|MECOM_ENST00000494292.1_Missense_Mutation_p.M618I|MECOM_ENST00000433243.2_Missense_Mutation_p.M431I|MECOM_ENST00000264674.3_Missense_Mutation_p.M495I|MECOM_ENST00000392736.3_Missense_Mutation_p.M430I	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.M430I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TGTCTTTGAACATTTTACCAT	0.373																																																	1	Substitution - Missense(1)	kidney(1)											243.0	229.0	234.0					3																	168833806		2203	4300	6503	SO:0001583	missense	2122			S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.1290G>T	3.37:g.168833806C>A	ENSP00000419770:p.Met430Ile		Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	C	9.455	1.091573	0.20471	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.05139	3.55;3.54;3.5;3.64;3.49;3.54;3.5;3.64	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.04048	0.0113	N	0.08118	0	0.38763	D	0.954363	B;B;B;B;B	0.31611	0.331;0.228;0.223;0.228;0.091	B;B;B;B;B	0.28465	0.09;0.053;0.026;0.053;0.024	T	0.52939	-0.8508	10	0.41790	T	0.15	-14.4535	13.3293	0.60477	0.0:0.9282:0.0:0.0718	.	618;431;618;495;430	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	I	495;430;430;431;618;430;430;431	ENSP00000264674:M495I;ENSP00000376493:M430I;ENSP00000419770:M430I;ENSP00000420048:M431I;ENSP00000417899:M618I;ENSP00000419995:M430I;ENSP00000420466:M430I;ENSP00000394302:M431I	ENSP00000264674:M495I	M	-	3	0	MECOM	170316500	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.917000	0.63369	2.756000	0.94617	0.655000	0.94253	ATG		0.373	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1		NM_005241, NM_004991	
ANKRD30BL	554226	broad.mit.edu	37	2	133014651	133014652	+	Intron	INS	-	-	C	rs150907057|rs147164632|rs565373825|rs111708138		TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr2:133014651_133014652insC	ENST00000470729.1	-	1	441				MIR663B_ENST00000408361.1_RNA	NR_027020.2		A7E2S9	A30BL_HUMAN	ankyrin repeat domain 30B-like											endometrium(1)|kidney(3)	4						GGCCCTCGGCACCACCGAGACC	0.678																																																	0																																										SO:0001627	intron_variant	100313824					2q21.2	2013-01-22	2010-06-14	2010-06-14	ENSG00000163046	ENSG00000163046		"""Ankyrin repeat domain containing"""	35167	protein-coding gene	gene with protein product			"""non-protein coding RNA 164"", ""ankyrin repeat domain 30B pseudogene 3"""	NCRNA00164, ANKRD30BP3		17114284	Standard	NR_027019		Approved		uc002tti.3	A7E2S9	OTTHUMG00000153491	ENST00000470729.1:c.984+449->G	2.37:g.133014653_133014653dupC			B8ZZL7	RNA	INS	ENST00000470729.1	37																																																																																					0.678	ANKRD30BL-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000331354.1		NR_027019	
NEFH	4744	broad.mit.edu;hgsc.bcm.edu	37	22	29879399	29879399	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr22:29879399A>G	ENST00000310624.6	+	2	952	c.919A>G	c.(919-921)Aac>Gac	p.N307D		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	307	Coil 2B.|Rod.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.N307D(1)		cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AGCCAAGGTGAACACAGACGC	0.587																																																	1	Substitution - Missense(1)	kidney(1)											146.0	146.0	146.0					22																	29879399		2203	4300	6503	SO:0001583	missense	4744				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.919A>G	22.37:g.29879399A>G	ENSP00000311997:p.Asn307Asp		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Missense_Mutation	SNP	ENST00000310624.6	37	CCDS13858.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.196501	0.79015	.	.	ENSG00000100285	ENST00000328842;ENST00000310624	D	0.89681	-2.55	5.62	5.62	0.85841	Filament (1);	0.000000	0.53938	D	0.000043	D	0.94098	0.8108	M	0.73430	2.235	0.51767	D	0.999932	D	0.89917	1.0	D	0.83275	0.996	D	0.94732	0.7910	10	0.87932	D	0	.	15.8326	0.78769	1.0:0.0:0.0:0.0	.	307	P12036	NFH_HUMAN	D	307	ENSP00000311997:N307D	ENSP00000311997:N307D	N	+	1	0	NEFH	28209399	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	9.007000	0.93597	2.142000	0.66516	0.528000	0.53228	AAC		0.587	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2		NM_021076	
PDE1C	5137	broad.mit.edu	37	7	32338297	32338304	+	Frame_Shift_Del	DEL	GGCGCTCC	GGCGCTCC	-	rs569362262		TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	GGCGCTCC	GGCGCTCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr7:32338297_32338304delGGCGCTCC	ENST00000396193.1	-	1	637_644	c.44_51delGGAGCGCC	c.(43-51)cggagcgccfs	p.RSA15fs		NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	0					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)			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)	TGCTGAAAGTGGCGCTCCGGCATTTTTT	0.659																																																	0																																										SO:0001589	frameshift_variant	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	ENST00000396193.1:c.44_51delGGAGCGCC	7.37:g.32338297_32338304delGGCGCTCC	ENSP00000379496:p.Arg15fs		B3KPC6|E9PE92|Q14124|Q8NB10	Frame_Shift_Del	DEL	ENST00000396193.1	37	CCDS55100.1																																																																																				0.659	PDE1C-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215075.1			
PCLO	27445	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	82595325	82595325	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr7:82595325T>C	ENST00000333891.9	-	4	4116	c.3779A>G	c.(3778-3780)cAg>cGg	p.Q1260R	PCLO_ENST00000423517.2_Missense_Mutation_p.Q1260R	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.Q1260R(2)|p.Q1199R(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTCATGTTTCTGTTCTTCTGG	0.423																																																	3	Substitution - Missense(3)	kidney(3)											242.0	239.0	240.0					7																	82595325		1869	4103	5972	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.3779A>G	7.37:g.82595325T>C	ENSP00000334319:p.Gln1260Arg			Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	10.99	1.508639	0.27036	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16073	2.37;2.38	5.47	-0.0544	0.13813	.	.	.	.	.	T	0.10551	0.0258	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.30995	-0.9959	9	0.87932	D	0	.	4.2191	0.10549	0.2296:0.2025:0.0:0.5679	.	1260;1260	Q9Y6V0-5;Q9Y6V0-6	.;.	R	1199;1260;1260	ENSP00000334319:Q1260R;ENSP00000388393:Q1260R	ENSP00000334319:Q1260R	Q	-	2	0	PCLO	82433261	0.747000	0.28283	0.004000	0.12327	0.251000	0.25915	2.884000	0.48562	0.105000	0.17753	0.533000	0.62120	CAG		0.423	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5		NM_014510	
PKHD1	5314	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	51799018	51799018	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr6:51799018G>A	ENST00000371117.3	-	37	6286	c.6011C>T	c.(6010-6012)cCc>cTc	p.P2004L	PKHD1_ENST00000340994.4_Missense_Mutation_p.P2004L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2004	G8 1. {ECO:0000255|PROSITE- ProRule:PRU00817}.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.P2004L(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GCCTTGGAAGGGCTTGTCTTC	0.537											OREG0017491	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					2	Substitution - Missense(2)	kidney(2)											134.0	123.0	126.0					6																	51799018		2203	4300	6503	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.6011C>T	6.37:g.51799018G>A	ENSP00000360158:p.Pro2004Leu	980	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.410995	0.62399	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.92397	-3.03;-3.03	5.5	5.5	0.81552	G8 domain (2);	0.074933	0.56097	D	0.000030	D	0.95862	0.8653	M	0.85859	2.78	0.53688	D	0.999976	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.992;0.993;0.994	D	0.96197	0.9142	10	0.72032	D	0.01	.	15.5692	0.76320	0.0:0.1379:0.8621:0.0	.	2004;2004;2004	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	L	2004	ENSP00000360158:P2004L;ENSP00000341097:P2004L	ENSP00000341097:P2004L	P	-	2	0	PKHD1	51906977	1.000000	0.71417	0.902000	0.35471	0.417000	0.31264	5.587000	0.67510	2.565000	0.86533	0.655000	0.94253	CCC		0.537	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1		NM_138694	
TMEM199	147007	broad.mit.edu	37	17	26684390	26684391	+	5'Flank	INS	-	-	C	rs11448856|rs67934205		TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr17:26684390_26684391insC	ENST00000292114.3	+	0	0				POLDIP2_ENST00000003607.4_5'UTR|CTB-96E2.3_ENST00000591482.1_RNA|POLDIP2_ENST00000540200.1_Frame_Shift_Ins_p.P28fs|TMEM199_ENST00000509083.1_5'Flank|TMEM199_ENST00000395404.3_5'Flank	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199							integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GCACAGAGCGGCTTTGCCACCG	0.762													?|C|CC|unsure	5008	1.0	1.0	1.0	5008	,	,		11683	1.0		1.0	False		,,,				2504	1.0																0										2752,40		1369,14,13						3.8	0.1		dbSNP_130	4	6434,100		3190,54,23	no	frameshift	POLDIP2	NM_015584.3		4559,68,36	A1A1,A1R,RR		1.5305,1.4327,1.5012				9186,140				SO:0001631	upstream_gene_variant	26073			AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 32"""	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498		17.37:g.26684391_26684391dupC	Exception_encountered			Splice_Site	INS	ENST00000292114.3	37	CCDS11228.1																																																																																				0.762	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255676.2		NM_152464	
POM121L9P	29774	broad.mit.edu	37	22	24659591	24659591	+	RNA	SNP	A	A	G			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr22:24659591A>G	ENST00000414583.2	+	0	3116					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		ACTCACTGACATCGAAGGCTG	0.632																																																	0																																												29774			AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659591A>G				RNA	SNP	ENST00000414583.2	37																																																																																					0.632	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1		NM_014549	
POM121L9P	29774	broad.mit.edu	37	22	24659593	24659593	+	RNA	SNP	C	C	T			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr22:24659593C>T	ENST00000414583.2	+	0	3118					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		TCACTGACATCGAAGGCTGCC	0.632																																																	0																																												29774			AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659593C>T				RNA	SNP	ENST00000414583.2	37																																																																																					0.632	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1		NM_014549	
PTPRF	5792	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	44070946	44070946	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr1:44070946C>G	ENST00000359947.4	+	18	3561	c.3221C>G	c.(3220-3222)tCg>tGg	p.S1074W	PTPRF_ENST00000372414.3_Missense_Mutation_p.S1074W|PTPRF_ENST00000438120.1_Missense_Mutation_p.S1065W|PTPRF_ENST00000372413.3_Missense_Mutation_p.S1065W|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Missense_Mutation_p.S422W	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1074	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.S1064W(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACAGAGTACTCGTTTGTGCTG	0.637																																																	1	Substitution - Missense(1)	kidney(1)											58.0	62.0	60.0					1																	44070946		2203	4300	6503	SO:0001583	missense	5792			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.3221C>G	1.37:g.44070946C>G	ENSP00000353030:p.Ser1074Trp		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.6|26.6	4.756170|4.756170	0.89843|0.89843	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000429895|ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407	.|T;T;T;T;T;T	.|0.55930	.|0.51;0.51;0.51;0.51;0.51;0.49	5.31|5.31	5.31|5.31	0.75309|0.75309	.|Fibronectin, type III (3);Immunoglobulin-like fold (1);	.|0.000000	.|0.29646	.|N	.|0.011579	T|T	0.70037|0.70037	0.3178|0.3178	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|0.997;0.999;0.999;1.0;1.0	.|D;D;D;D;D	.|0.79784	.|0.931;0.934;0.985;0.989;0.993	T|T	0.71553|0.71553	-0.4558|-0.4558	5|10	.|0.72032	.|D	.|0.01	.|.	19.3629|19.3629	0.94448|0.94448	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|719;422;640;1065;1074	.|Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586	.|.;.;.;.;PTPRF_HUMAN	G|W	720|1074;1065;1074;1065;422;135	.|ENSP00000353030:S1074W;ENSP00000398822:S1065W;ENSP00000361491:S1074W;ENSP00000361490:S1065W;ENSP00000387885:S422W;ENSP00000361484:S135W	.|ENSP00000353030:S1074W	R|S	+|+	1|2	0|0	PTPRF|PTPRF	43843533|43843533	1.000000|1.000000	0.71417|0.71417	0.965000|0.965000	0.40720|0.40720	0.841000|0.841000	0.47740|0.47740	6.072000|6.072000	0.71238|0.71238	2.675000|2.675000	0.91044|0.91044	0.591000|0.591000	0.81541|0.81541	CGT|TCG		0.637	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			
SCG2	7857	hgsc.bcm.edu;ucsc.edu	37	2	224463149	224463149	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr2:224463149delG	ENST00000305409.2	-	2	1084	c.852delC	c.(850-852)cgcfs	p.R284fs		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0	Interaction with FANCD2.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		GCTGCCCTGAGCGTTTCATCT	0.413																																																	0													161.0	165.0	164.0					2																	224463149		2203	4300	6503	SO:0001589	frameshift_variant	7857			M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"""secretoneurin"", ""chromogranin C"""	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.852delC	2.37:g.224463149delG	ENSP00000304133:p.Arg284fs		A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Frame_Shift_Del	DEL	ENST00000305409.2	37	CCDS2457.1																																																																																				0.413	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2		NM_003469	
SETD2	29072	hgsc.bcm.edu;ucsc.edu	37	3	47163990	47164005	+	Frame_Shift_Del	DEL	TTTGACCAAAGGGGAT	TTTGACCAAAGGGGAT	-	rs200185785		TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	TTTGACCAAAGGGGAT	TTTGACCAAAGGGGAT	TTTGACCAAAGGGGAT	-	TTTGACCAAAGGGGAT	TTTGACCAAAGGGGAT	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr3:47163990_47164005delTTTGACCAAAGGGGAT	ENST00000409792.3	-	3	2163_2178	c.2121_2136delATCCCCTTTGGTCAAA	c.(2119-2136)ttatcccctttggtcaaafs	p.LSPLVK707fs		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	707					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GCATGCATGCTTTGACCAAAGGGGATAATTCCGATC	0.398			"""N, F, S, Mis"""		clear cell renal carcinoma																																			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0																																										SO:0001589	frameshift_variant	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.2121_2136delATCCCCTTTGGTCAAA	3.37:g.47163990_47164005delTTTGACCAAAGGGGAT	ENSP00000386759:p.Leu707fs		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Frame_Shift_Del	DEL	ENST00000409792.3	37	CCDS2749.2																																																																																				0.398	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2		NM_014159	
SLC22A11	55867	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	64337144	64337144	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr11:64337144T>G	ENST00000301891.4	+	9	1777	c.1403T>G	c.(1402-1404)cTg>cGg	p.L468R	SLC22A11_ENST00000377581.3_Intron|SLC22A11_ENST00000377585.3_Missense_Mutation_p.L360R	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	468					organic anion transport (GO:0015711)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.L468R(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Aminohippurate(DB00345)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Estradiol(DB00783)|Furosemide(DB00695)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Novobiocin(DB01051)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Salicylic acid(DB00936)|Tetracycline(DB00759)|Zidovudine(DB00495)	GATGGCATTCTGCATACAGTG	0.617																																																	1	Substitution - Missense(1)	kidney(1)											80.0	86.0	84.0					11																	64337144		2201	4297	6498	SO:0001583	missense	55867			AB026116	CCDS8074.1	11q13.3	2013-05-22	2008-01-11		ENSG00000168065	ENSG00000168065		"""Solute carriers"""	18120	protein-coding gene	gene with protein product		607097				10660625, 15576633, 17229912	Standard	NM_018484		Approved	OAT4	uc001oai.3	Q9NSA0	OTTHUMG00000045142	ENST00000301891.4:c.1403T>G	11.37:g.64337144T>G	ENSP00000301891:p.Leu468Arg		A8K426|Q53GR2|Q6ZP72|Q8NBU4	Missense_Mutation	SNP	ENST00000301891.4	37	CCDS8074.1	.	.	.	.	.	.	.	.	.	.	T	11.32	1.603489	0.28534	.	.	ENSG00000168065	ENST00000301891;ENST00000377585	T;T	0.74526	-0.85;0.19	3.55	-0.795	0.10915	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.780187	0.10969	U	0.614119	T	0.72195	0.3430	L	0.58101	1.795	0.09310	N	1	P;D	0.55800	0.904;0.973	P;P	0.54815	0.571;0.761	T	0.60831	-0.7185	10	0.15499	T	0.54	.	4.4157	0.11455	0.3252:0.0:0.1658:0.509	.	360;468	Q9NSA0-2;Q9NSA0	.;S22AB_HUMAN	R	468;360	ENSP00000301891:L468R;ENSP00000366809:L360R	ENSP00000301891:L468R	L	+	2	0	SLC22A11	64093720	0.000000	0.05858	0.013000	0.15412	0.011000	0.07611	-0.385000	0.07379	0.077000	0.16863	0.397000	0.26171	CTG		0.617	SLC22A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104886.4		NM_018484	
SLC27A2	11001	hgsc.bcm.edu	37	15	50474899	50474900	+	Frame_Shift_Ins	INS	-	-	T	rs143557372|rs34490804	byFrequency	TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr15:50474899_50474900insT	ENST00000267842.5	+	1	507_508	c.275_276insT	c.(274-279)gcccggfs	p.R93fs	SLC27A2_ENST00000380902.4_Frame_Shift_Ins_p.R93fs	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	93					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)|very long-chain fatty acid catabolic process (GO:0042760)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of peroxisomal membrane (GO:0005779)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|phytanate-CoA ligase activity (GO:0050197)|pristanate-CoA ligase activity (GO:0070251)|receptor binding (GO:0005102)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		AATCAAGTGGCCCGGGCGCTGC	0.658																																																	0																																										SO:0001589	frameshift_variant	11001			D88308	CCDS10133.1, CCDS53943.1	15q21.2	2013-05-22			ENSG00000140284	ENSG00000140284		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10996	protein-coding gene	gene with protein product		603247		FACVL1		9730624	Standard	NM_003645		Approved	FATP2, hFACVL1, VLACS, VLCS, HsT17226, ACSVL1	uc001zxw.3	O14975	OTTHUMG00000131643	Exception_encountered	15.37:g.50474899_50474900insT	ENSP00000267842:p.Arg93fs		A8K2J7|Q53FY6|Q6PF09	Frame_Shift_Ins	INS	ENST00000267842.5	37	CCDS10133.1																																																																																				0.658	SLC27A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254539.2		NM_003645	
SLC28A1	9154	hgsc.bcm.edu	37	15	85438311	85438312	+	In_Frame_Ins	INS	-	-	TTG	rs17215836|rs151038463	byFrequency	TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr15:85438311_85438312insTTG	ENST00000286749.3	+	5	508_509	c.418_419insTTG	c.(418-420)ctc>cTTGtc	p.140_141insV	SLC28A1_ENST00000537624.1_In_Frame_Ins_p.140_141insV|SLC28A1_ENST00000338602.2_In_Frame_Ins_p.140_141insV|SLC28A1_ENST00000394573.1_In_Frame_Ins_p.140_141insV|SLC28A1_ENST00000537216.1_In_Frame_Ins_p.140_141insV|SLC28A1_ENST00000537703.1_In_Frame_Ins_p.62_63insV|SLC28A1_ENST00000538177.1_In_Frame_Ins_p.140_141insV			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	140			L -> LV (in A). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9124315}.		nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)	p.L140_K141insV(2)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	GAGGAGGTTTCTCAAGCCTCAG	0.639														1294	0.258387	0.3132	0.2651	5008	,	,		16712	0.1925		0.3111	False		,,,				2504	0.1933																2	Insertion - In frame(2)	lung(2)							,	1267,2997		209,849,1074					,	-2.5	0.0		dbSNP_126	46	2510,5742		383,1744,1999	no	coding,coding	SLC28A1	NM_201651.1,NM_004213.3	,	592,2593,3073	A1A1,A1R,RR		30.4169,29.7139,30.1774	,	,		3777,8739				SO:0001652	inframe_insertion	9154			U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"""Solute carriers"""	11001	protein-coding gene	gene with protein product		606207	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"""			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	Exception_encountered	15.37:g.85438311_85438312insTTG	ENSP00000286749:p.Leu140_Lys141insVal		A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	In_Frame_Ins	INS	ENST00000286749.3	37	CCDS10334.1																																																																																				0.639	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			
TDRD3	81550	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	61103273	61103273	+	Silent	SNP	A	A	G			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr13:61103273A>G	ENST00000196169.3	+	11	2423	c.1635A>G	c.(1633-1635)gaA>gaG	p.E545E	TDRD3_ENST00000377894.2_Silent_p.E545E|TDRD3_ENST00000377881.2_Silent_p.E545E|TDRD3_ENST00000535286.1_Silent_p.E638E	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	545					chromatin modification (GO:0016568)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)	p.E545E(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		AAATACTAGAATCATCTATTC	0.383																																					Colon(36;164 906 35820 50723)												1	Substitution - coding silent(1)	kidney(1)											56.0	60.0	58.0					13																	61103273		2203	4300	6503	SO:0001819	synonymous_variant	81550			AK023578	CCDS9441.1, CCDS53872.1	13q14.3	2013-01-23			ENSG00000083544	ENSG00000083544		"""Tudor domain containing"""	20612	protein-coding gene	gene with protein product		614392					Standard	NM_030794		Approved	FLJ21007	uc010aeg.3	Q9H7E2	OTTHUMG00000017007	ENST00000196169.3:c.1635A>G	13.37:g.61103273A>G			B2MWP9|Q53XA6|Q6P992	Silent	SNP	ENST00000196169.3	37	CCDS9441.1																																																																																				0.383	TDRD3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045175.2		NM_030794	
THSD7B	80731	hgsc.bcm.edu;ucsc.edu	37	2	137928375	137928375	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr2:137928375delT	ENST00000409968.1	+	7	1768	c.1590delT	c.(1588-1590)catfs	p.H530fs	THSD7B_ENST00000413152.2_Frame_Shift_Del_p.H499fs|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000485379.1_3'UTR|THSD7B_ENST00000272643.3_Frame_Shift_Del_p.H530fs			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	530	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ATTGCCCTCATTTGGTGGAGT	0.488																																																	0													122.0	119.0	120.0					2																	137928375		2017	4184	6201	SO:0001589	frameshift_variant	80731					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.1590delT	2.37:g.137928375delT	ENSP00000387145:p.His530fs			Frame_Shift_Del	DEL	ENST00000409968.1	37																																																																																					0.488	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2		XM_046570.9	
TLE3	7090	hgsc.bcm.edu;ucsc.edu	37	15	70368448	70368448	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr15:70368448delA	ENST00000558939.1	-	5	1661	c.284delT	c.(283-285)ttcfs	p.F95fs	TLE3_ENST00000539550.1_Frame_Shift_Del_p.F29fs|TLE3_ENST00000560939.1_Frame_Shift_Del_p.F101fs|TLE3_ENST00000317509.8_Frame_Shift_Del_p.F95fs|TLE3_ENST00000557997.1_Frame_Shift_Del_p.F95fs|TLE3_ENST00000451782.2_Frame_Shift_Del_p.F95fs|TLE3_ENST00000560589.1_Frame_Shift_Del_p.F39fs|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000558201.1_Frame_Shift_Del_p.F101fs|TLE3_ENST00000442299.2_Frame_Shift_Del_p.F95fs|TLE3_ENST00000557907.1_Frame_Shift_Del_p.F95fs|TLE3_ENST00000559929.1_Frame_Shift_Del_p.F95fs|TLE3_ENST00000440567.3_Frame_Shift_Del_p.F88fs|TLE3_ENST00000559048.1_Frame_Shift_Del_p.F101fs|TLE3_ENST00000558379.1_Frame_Shift_Del_p.F95fs	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3	95	Gln-rich.				Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TTGTGACAGGAAAGGCATGAT	0.468																																																	0													171.0	164.0	166.0					15																	70368448		1936	4123	6059	SO:0001589	frameshift_variant	7090			M99438	CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1	15q22	2014-03-07	2014-03-07			ENSG00000140332		"""WD repeat domain containing"""	11839	protein-coding gene	gene with protein product		600190	"""transducin-like enhancer of split 3, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005254623		Approved	ESG, ESG3, KIAA1547, HsT18976, GRG3	uc002asm.2	Q04726		ENST00000558939.1:c.284delT	15.37:g.70368448delA	ENSP00000452871:p.Phe95fs		B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	Frame_Shift_Del	DEL	ENST00000558939.1	37	CCDS45293.1																																																																																				0.468	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416913.1		NM_005078	
UGT2A3	79799	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	69816847	69816847	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr4:69816847T>G	ENST00000251566.4	-	1	662	c.632A>C	c.(631-633)aAt>aCt	p.N211T	UGT2A3_ENST00000420231.2_5'UTR	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	211					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.N211T(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AAGCATTGAATTTTTTACTCT	0.393																																																	1	Substitution - Missense(1)	kidney(1)											52.0	54.0	53.0					4																	69816847		2203	4299	6502	SO:0001583	missense	79799				CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.632A>C	4.37:g.69816847T>G	ENSP00000251566:p.Asn211Thr		Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	T	14.49	2.549644	0.45383	.	.	ENSG00000135220	ENST00000251566	T	0.73681	-0.77	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	D	0.90652	0.7068	H	0.98238	4.18	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93270	0.6651	10	0.87932	D	0	.	12.2413	0.54544	0.0:0.0:0.0:1.0	.	211	Q6UWM9	UD2A3_HUMAN	T	211	ENSP00000251566:N211T	ENSP00000251566:N211T	N	-	2	0	UGT2A3	69851436	1.000000	0.71417	0.768000	0.31515	0.028000	0.11728	6.329000	0.72920	1.996000	0.58369	0.482000	0.46254	AAT		0.393	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1		NM_024743	
VAX2	25806	broad.mit.edu	37	2	71160067	71160067	+	Silent	SNP	G	G	A			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr2:71160067G>A	ENST00000234392.2	+	3	638	c.606G>A	c.(604-606)gcG>gcA	p.A202A	ATP6V1B1_ENST00000234396.4_5'Flank|ATP6V1B1_ENST00000412314.1_5'Flank|snoU13_ENST00000459218.1_RNA	NM_012476.2	NP_036608.1	Q9UIW0	VAX2_HUMAN	ventral anterior homeobox 2	202					axonogenesis (GO:0007409)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic eye morphogenesis (GO:0048048)|forebrain development (GO:0030900)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A202A(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	7						GCCTCCTGGCGCTGACCCCTA	0.687																																																	1	Substitution - coding silent(1)	kidney(1)											29.0	34.0	32.0					2																	71160067		2203	4300	6503	SO:0001819	synonymous_variant	25806			Y17791	CCDS1911.1	2p13.3	2011-06-20			ENSG00000116035	ENSG00000116035		"""Homeoboxes / ANTP class : NKL subclass"""	12661	protein-coding gene	gene with protein product		604295				10485894	Standard	NM_012476		Approved	DRES93	uc002shh.3	Q9UIW0	OTTHUMG00000129714	ENST00000234392.2:c.606G>A	2.37:g.71160067G>A			Q53Y33	Silent	SNP	ENST00000234392.2	37	CCDS1911.1																																																																																				0.687	VAX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251923.1			
WDFY3	23001	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	85742692	85742692	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr4:85742692C>G	ENST00000295888.4	-	11	1543	c.1136G>C	c.(1135-1137)aGa>aCa	p.R379T	WDFY3_ENST00000322366.6_Missense_Mutation_p.R379T	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	379					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.R379T(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CTGGACGTTTCTCACACTGTG	0.343																																																	1	Substitution - Missense(1)	kidney(1)											80.0	81.0	81.0					4																	85742692		2201	4297	6498	SO:0001583	missense	23001			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.1136G>C	4.37:g.85742692C>G	ENSP00000295888:p.Arg379Thr		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667250	0.88348	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.18016	2.24;2.24	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.48466	0.1501	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.47249	-0.9132	10	0.87932	D	0	.	20.279	0.98512	0.0:1.0:0.0:0.0	.	379;379	E2QRK8;Q8IZQ1	.;WDFY3_HUMAN	T	379	ENSP00000318466:R379T;ENSP00000295888:R379T	ENSP00000295888:R379T	R	-	2	0	WDFY3	85961716	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.430000	0.80321	2.789000	0.95967	0.650000	0.86243	AGA		0.343	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2		NM_014991	
ZAN	7455	hgsc.bcm.edu	37	7	100371476	100371477	+	RNA	INS	-	-	G	rs148800656|rs200325383|rs372381708	byFrequency	TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr7:100371476_100371477insG	ENST00000348028.3	+	0	5932_5933				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.?(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCTGCTCCGTTTCGGGCCTCAG	0.624													G|-|G|deletion	2230	0.445288	0.2133	0.5418	5008	,	,		17915	0.7867		0.3419	False		,,,				2504	0.4448																1	Unknown(1)	upper_aerodigestive_tract(1)							,	906,2950		139,628,1161					,	4.6	0.9		dbSNP_134	33	2934,5018		557,1820,1599	no	frameshift,frameshift	ZAN	NM_173059.1,NM_003386.1	,	696,2448,2760	A1A1,A1R,RR		36.8964,23.4959,32.5203	,	,		3840,7968						7455			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100371476_100371477insG			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Frame_Shift_Ins	INS	ENST00000348028.3	37																																																																																					0.624	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1		NM_003386	
ZFYVE26	23503	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	68234548	68234548	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr14:68234548C>G	ENST00000347230.4	-	31	5801	c.5663G>C	c.(5662-5664)aGc>aCc	p.S1888T	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.S1888T	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1888					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.S1888T(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		ATTCTTGGAGCTGTCTAGAGC	0.483																																																	1	Substitution - Missense(1)	kidney(1)											114.0	102.0	106.0					14																	68234548		2203	4300	6503	SO:0001583	missense	23503			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.5663G>C	14.37:g.68234548C>G	ENSP00000251119:p.Ser1888Thr		B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	C	5.296	0.239931	0.10023	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.30714	1.67;1.52	5.77	4.89	0.63831	Zinc finger, FYVE/PHD-type (1);	0.260218	0.46442	D	0.000296	T	0.28267	0.0698	M	0.62723	1.935	0.09310	N	1	B;B	0.29988	0.264;0.067	B;B	0.24701	0.055;0.012	T	0.19516	-1.0303	10	0.35671	T	0.21	-5.2451	8.823	0.35039	0.0:0.7229:0.1949:0.0823	.	1888;1888	G3V2D8;Q68DK2	.;ZFY26_HUMAN	T	1888;1867;1888	ENSP00000251119:S1888T;ENSP00000450603:S1888T	ENSP00000251119:S1888T	S	-	2	0	ZFYVE26	67304301	0.849000	0.29639	0.139000	0.22197	0.088000	0.18126	1.894000	0.39768	1.460000	0.47911	0.561000	0.74099	AGC		0.483	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2		NM_015346	
ZNF800	168850	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	127013660	127013660	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr7:127013660delG	ENST00000393313.1	-	5	2321	c.1730delC	c.(1729-1731)cctfs	p.P577fs	ZNF800_ENST00000485577.1_5'Flank|ZNF800_ENST00000265827.3_Frame_Shift_Del_p.P577fs|ZNF800_ENST00000393312.1_Frame_Shift_Del_p.P577fs			Q2TB10	ZN800_HUMAN	zinc finger protein 800	577					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						ATCCCTCGAAGGGCCTCTTTT	0.363																																																	0													110.0	111.0	111.0					7																	127013660		2203	4299	6502	SO:0001589	frameshift_variant	168850			AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"""Zinc fingers, C2H2-type"""	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.1730delC	7.37:g.127013660delG	ENSP00000376989:p.Pro577fs		Q9HBN0	Frame_Shift_Del	DEL	ENST00000393313.1	37	CCDS5795.1																																																																																				0.363	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1		NM_176814	
