#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
AKT1S1	84335	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	50374936	50374936	+	Silent	SNP	G	G	A	rs368386866		TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr19:50374936G>A	ENST00000391833.1	-	3	2484	c.495C>T	c.(493-495)ccC>ccT	p.P165P	AKT1S1_ENST00000391832.3_Silent_p.P165P|AKT1S1_ENST00000391834.2_Silent_p.P165P|AKT1S1_ENST00000344175.5_Silent_p.P165P|AKT1S1_ENST00000391831.1_Silent_p.P165P|AKT1S1_ENST00000391835.1_Silent_p.P185P	NM_001278160.1	NP_001265089.1			AKT1 substrate 1 (proline-rich)									p.P165P(1)		kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		CTGAGCAGGTGGGGGGGCCGG	0.652																																																	1	Substitution - coding silent(1)	kidney(1)											33.0	41.0	38.0					19																	50374936		2199	4290	6489	SO:0001819	synonymous_variant	84335			BC022241	CCDS12784.1, CCDS59410.1	19q13.33	2008-02-05			ENSG00000204673	ENSG00000204673			28426	protein-coding gene	gene with protein product	"""proline-rich Akt substrate, 40 kDa"""	610221				12524439	Standard	NM_032375		Approved	PRAS40, MGC2865, Lobe	uc031rmg.1	Q96B36	OTTHUMG00000150246	ENST00000391833.1:c.495C>T	19.37:g.50374936G>A				Silent	SNP	ENST00000391833.1	37	CCDS12784.1																																																																																				0.652	AKT1S1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317073.1		NM_032375	
DDX39B	7919	hgsc.bcm.edu	37	6	31504445	31504446	+	Frame_Shift_Ins	INS	-	-	A	rs75750725		TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr6:31504445_31504446insA	ENST00000396172.1	-	5	1077_1078	c.447_448insT	c.(445-450)tttggtfs	p.G150fs	ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000417556.2_Frame_Shift_Ins_p.G165fs|DDX39B_ENST00000458640.1_Frame_Shift_Ins_p.G150fs|DDX39B_ENST00000449074.2_3'UTR|SNORD117_ENST00000364915.1_RNA|DDX39B_ENST00000376177.2_Frame_Shift_Ins_p.G150fs|DDX39B_ENST00000453105.2_Frame_Shift_Ins_p.G103fs|DDX39B_ENST00000415382.2_Frame_Shift_Ins_p.G72fs	NM_004640.6	NP_004631.1	Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	150	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|RNA secondary structure unwinding (GO:0010501)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|transcription export complex (GO:0000346)	ATP binding (GO:0005524)|ATP-dependent protein binding (GO:0043008)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)|RNA-dependent ATPase activity (GO:0008186)|U4 snRNA binding (GO:0030621)|U6 snRNA binding (GO:0017070)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GACAGACCACCAAAAAAAACAG	0.51																																																	0																																										SO:0001589	frameshift_variant	0			Z37166	CCDS4697.1	6p21.33	2011-02-09	2011-02-08	2011-02-08	ENSG00000198563	ENSG00000198563		"""DEAD-boxes"""	13917	protein-coding gene	gene with protein product	"""U2AF65-associated protein 56"""	142560	"""HLA-B associated transcript 1"""	BAT1		7601445, 2813433	Standard	NM_004640		Approved	D6S81E, UAP56	uc003ntu.3	Q13838	OTTHUMG00000031165	ENST00000396172.1:c.448dupT	6.37:g.31504453_31504453dupA	ENSP00000379475:p.Gly150fs		B0S8C0|O43496|Q0EFA1|Q2L6F9|Q53GL9|Q5RJ64|Q5RJ66|Q5ST94|Q5STB4|Q5STB5|Q5STB7|Q5STB8|Q5STU4|Q5STU5|Q5STU6|Q5STU8|Q71V76	Frame_Shift_Ins	INS	ENST00000396172.1	37	CCDS4697.1																																																																																				0.510	DDX39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259083.1		NM_004640	
BBOX1	8424	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	27147298	27147299	+	Missense_Mutation	DNP	GC	GC	TA			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr11:27147298_27147299GC>TA	ENST00000529202.1	+	7	1273_1274	c.934_935GC>TA	c.(934-936)GCt>TAt	p.A312Y	RP11-1L12.3_ENST00000525302.1_RNA|BBOX1_ENST00000525090.1_Missense_Mutation_p.A312Y|BBOX1_ENST00000263182.3_Missense_Mutation_p.A312Y|RP11-1L12.3_ENST00000530430.1_RNA|BBOX1_ENST00000528583.1_Missense_Mutation_p.A312Y|RP11-1L12.3_ENST00000526061.1_RNA			O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	312					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	gamma-butyrobetaine dioxygenase activity (GO:0008336)|iron ion binding (GO:0005506)|zinc ion binding (GO:0008270)	p.A312S(1)|p.A312D(1)|p.A312>?(1)		breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	gcctttttatgctgcTCTGAAG	0.391																																																	3	Substitution - Missense(2)|Complex(1)	kidney(3)																																								SO:0001583	missense	8424			AF082868	CCDS7862.1	11p	2008-02-01			ENSG00000129151	ENSG00000129151	1.14.11.1		964	protein-coding gene	gene with protein product		603312		BBOX		9753662	Standard	XM_005253159		Approved	gamma-BBH, G-BBH, BBH	uc001mre.1	O75936	OTTHUMG00000166121	Exception_encountered	11.37:g.27147298_27147299delinsTA	ENSP00000435781:p.Ala312Tyr		B2R8L7|D3DQZ1|Q6IBJ2	Missense_Mutation	SNP	ENST00000529202.1	37	CCDS7862.1																																																																																				0.391	BBOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387946.1		NM_003986	
FAM208B	54906	broad.mit.edu;ucsc.edu	37	10	5789077	5789077	+	Silent	SNP	A	A	C			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr10:5789077A>C	ENST00000328090.5	+	15	4318	c.3693A>C	c.(3691-3693)tcA>tcC	p.S1231S		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1231								p.S1231S(1)									GCCACACATCAGGTGACTCTT	0.413																																																	1	Substitution - coding silent(1)	kidney(1)											83.0	82.0	83.0					10																	5789077		1979	4168	6147	SO:0001819	synonymous_variant	0			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.3693A>C	10.37:g.5789077A>C			Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Silent	SNP	ENST00000328090.5	37	CCDS41485.1																																																																																				0.413	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2		NM_017782	
BPIFB4	149954	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	31690805	31690805	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr20:31690805C>A	ENST00000375483.3	+	13	1665	c.1665C>A	c.(1663-1665)aaC>aaA	p.N555K		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	555						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.N516K(1)									GAACCTCAAACGTGGGCAACT	0.498																																																	1	Substitution - Missense(1)	kidney(1)											178.0	154.0	162.0					20																	31690805		2203	4300	6503	SO:0001583	missense	0			AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.1665C>A	20.37:g.31690805C>A	ENSP00000364632:p.Asn555Lys		Q5TDX6	Missense_Mutation	SNP	ENST00000375483.3	37	CCDS13213.2	.	.	.	.	.	.	.	.	.	.	C	9.820	1.185437	0.21870	.	.	ENSG00000186191	ENST00000375483	T	0.06608	3.28	5.58	-6.93	0.01638	.	0.541750	0.18836	N	0.129830	T	0.15219	0.0367	M	0.65975	2.015	0.23624	N	0.997269	D	0.67145	0.996	D	0.64410	0.925	T	0.01692	-1.1294	10	0.21014	T	0.42	-20.7243	16.7112	0.85386	0.0:0.6779:0.0:0.3221	.	555	P59827	BPIB4_HUMAN	K	555	ENSP00000364632:N555K	ENSP00000364632:N555K	N	+	3	2	BPIFB4	31154466	0.047000	0.20315	0.249000	0.24280	0.000000	0.00434	-2.320000	0.01119	-2.169000	0.00777	-1.579000	0.00862	AAC		0.498	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5		NM_182519	
CDH2	1000	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	25583110	25583110	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr18:25583110C>T	ENST00000269141.3	-	7	1294	c.871G>A	c.(871-873)Gca>Aca	p.A291T	CDH2_ENST00000399380.3_Missense_Mutation_p.A260T	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	291	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.A291T(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GCATCAATTGCTGTTACGGTC	0.433																																																	1	Substitution - Missense(1)	kidney(1)											174.0	125.0	141.0					18																	25583110		2203	4300	6503	SO:0001583	missense	1000			S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.871G>A	18.37:g.25583110C>T	ENSP00000269141:p.Ala291Thr		A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.601735	0.66445	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.61392	0.11;0.11	5.48	5.48	0.80851	Cadherin (5);Cadherin-like (1);	0.108661	0.64402	D	0.000004	T	0.81800	0.4899	M	0.91818	3.245	0.48341	D	0.999638	D;D	0.71674	0.998;0.987	D;P	0.70487	0.969;0.824	D	0.85476	0.1176	10	0.87932	D	0	.	19.6936	0.96012	0.0:1.0:0.0:0.0	.	260;291	A8MWK3;P19022	.;CADH2_HUMAN	T	291;260	ENSP00000269141:A291T;ENSP00000382312:A260T	ENSP00000269141:A291T	A	-	1	0	CDH2	23837108	0.998000	0.40836	0.656000	0.29637	0.400000	0.30750	3.973000	0.56845	2.724000	0.93272	0.563000	0.77884	GCA		0.433	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3		NM_001792	
COX10-AS1	100874058	broad.mit.edu	37	17	13927900	13927900	+	RNA	SNP	T	T	C			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr17:13927900T>C	ENST00000602743.1	-	0	224									COX10 antisense RNA 1																		GAGCCTTTTCTGACGATGCCG	0.572																																																	0																																												0					17p12	2013-05-22	2012-08-15	2010-11-25	ENSG00000236088	ENSG00000236088		"""Long non-coding RNAs"""	38873	non-coding RNA	RNA, long non-coding			"""COX10 antisense RNA (non-protein coding)"", ""COX10 antisense RNA 1 (non-protein coding)"""	COX10AS, COX10-AS			Standard	NR_049718		Approved		uc002goe.1		OTTHUMG00000058771		17.37:g.13927900T>C				RNA	SNP	ENST00000602743.1	37																																																																																					0.572	COX10-AS1-005	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000467585.1			
CEP135	9662	broad.mit.edu;hgsc.bcm.edu	37	4	56825852	56825852	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr4:56825852C>T	ENST00000257287.4	+	6	743	c.619C>T	c.(619-621)Caa>Taa	p.Q207*	CEP135_ENST00000422247.2_Nonsense_Mutation_p.Q207*	NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	207					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)	p.Q207*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					TTTCAGGATTCAAGAACTTCA	0.328																																																	1	Substitution - Nonsense(1)	kidney(1)											87.0	83.0	84.0					4																	56825852		2203	4300	6503	SO:0001587	stop_gained	9662			AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.619C>T	4.37:g.56825852C>T	ENSP00000257287:p.Gln207*		B2RMY0|O75130|Q58F25|Q9H8H7	Nonsense_Mutation	SNP	ENST00000257287.4	37	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	C	36	5.770696	0.96914	.	.	ENSG00000174799	ENST00000422247;ENST00000257287	.	.	.	4.63	4.63	0.57726	.	0.249530	0.41605	D	0.000857	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	17.8589	0.88775	0.0:1.0:0.0:0.0	.	.	.	.	X	207	.	ENSP00000257287:Q207X	Q	+	1	0	CEP135	56520609	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.528000	0.53524	2.266000	0.75297	0.561000	0.74099	CAA		0.328	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2		NM_025009	
CHD6	84181	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	40033900	40033900	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr20:40033900C>T	ENST00000373233.3	-	37	7658	c.7481G>A	c.(7480-7482)gGg>gAg	p.G2494E	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2494					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)	p.G2494E(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CCCCACCAGCCCGGTGAGGGG	0.562																																																	1	Substitution - Missense(1)	kidney(1)											61.0	58.0	59.0					20																	40033900		2203	4300	6503	SO:0001583	missense	84181			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.7481G>A	20.37:g.40033900C>T	ENSP00000362330:p.Gly2494Glu		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.561380	0.86335	.	.	ENSG00000124177	ENST00000373233	D	0.98474	-4.95	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000009	D	0.98883	0.9622	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99824	1.1049	10	0.87932	D	0	-25.2651	19.7069	0.96076	0.0:1.0:0.0:0.0	.	2494	Q8TD26	CHD6_HUMAN	E	2494	ENSP00000362330:G2494E	ENSP00000362330:G2494E	G	-	2	0	CHD6	39467314	1.000000	0.71417	0.989000	0.46669	0.971000	0.66376	7.505000	0.81655	2.894000	0.99253	0.591000	0.81541	GGG		0.562	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			
COL3A1	1281	hgsc.bcm.edu;ucsc.edu	37	2	189875056	189875056	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr2:189875056delG	ENST00000304636.3	+	49	4146	c.3976delG	c.(3976-3978)gttfs	p.V1326fs	COL3A1_ENST00000317840.5_Frame_Shift_Del_p.V1023fs	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1326	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	GAAGAAACACGTTTGGTTTGG	0.388																																																	0													145.0	145.0	145.0					2																	189875056		2203	4300	6503	SO:0001589	frameshift_variant	1281			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.3976delG	2.37:g.189875056delG	ENSP00000304408:p.Val1326fs		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Frame_Shift_Del	DEL	ENST00000304636.3	37	CCDS2297.1																																																																																				0.388	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3		NM_000090	
COL7A1	1294	broad.mit.edu	37	3	48609479	48609479	+	Splice_Site	SNP	C	C	T			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr3:48609479C>T	ENST00000328333.8	-	91	7131		c.e91-1		COL7A1_ENST00000454817.1_Splice_Site	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1						cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.?(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CAGCTTCACCCTGCACAGAAT	0.672																																																	1	Unknown(1)	kidney(1)											31.0	29.0	30.0					3																	48609479		2203	4300	6503	SO:0001630	splice_region_variant	1294			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.7024-1G>A	3.37:g.48609479C>T			Q14054|Q16507	Splice_Site	SNP	ENST00000328333.8	37	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.790235	0.31685	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	.	.	.	5.7	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9751	0.58532	0.0:0.9255:0.0:0.0745	.	.	.	.	.	-1	.	.	.	-	.	.	COL7A1	48584483	1.000000	0.71417	0.996000	0.52242	0.258000	0.26162	3.169000	0.50809	1.419000	0.47118	-0.136000	0.14681	.		0.672	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1		NM_000094	Intron
CROCCP3	114819	broad.mit.edu	37	1	16812113	16812113	+	RNA	SNP	G	G	A	rs200988154	byFrequency	TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr1:16812113G>A	ENST00000263511.4	-	0	1438					NR_023386.1		Q8IVE0	CROL2_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 3						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											ATCCTTCTCCGGATTCTGCTT	0.607																																																	0																																												0			AB067509		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000080947	ENSG00000080947			29405	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 2"""	CROCCL2		11572484	Standard	NR_023386		Approved	KIAA1922	uc001ayt.2	Q8IVE0	OTTHUMG00000037885		1.37:g.16812113G>A			Q96PW6	RNA	SNP	ENST00000263511.4	37																																																																																					0.607	CROCCP3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000458172.1		XM_057040	
CSMD1	64478	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	2818703	2818703	+	Missense_Mutation	SNP	G	G	T	rs201200691		TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr8:2818703G>T	ENST00000520002.1	-	63	10220	c.9665C>A	c.(9664-9666)aCg>aAg	p.T3222K	CSMD1_ENST00000602557.1_Missense_Mutation_p.T3222K|CSMD1_ENST00000537824.1_Missense_Mutation_p.T3221K|CSMD1_ENST00000602723.1_Missense_Mutation_p.T3045K|CSMD1_ENST00000400186.3_Missense_Mutation_p.T3045K|CSMD1_ENST00000542608.1_Missense_Mutation_p.T3044K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3222	Sushi 27. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.T2950K(1)|p.T3221K(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAAGTGTGGCGTACCAGGGTC	0.348																																																	2	Substitution - Missense(2)	kidney(2)											77.0	74.0	75.0					8																	2818703		1842	4103	5945	SO:0001583	missense	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.9665C>A	8.37:g.2818703G>T	ENSP00000430733:p.Thr3222Lys		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.31|15.31	2.796672|2.796672	0.50208|0.50208	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	T;T;T;T|.	0.64260|.	-0.09;-0.09;-0.09;-0.09|.	5.81|5.81	5.81|5.81	0.92471|0.92471	Complement control module (2);Sushi/SCR/CCP (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.75766|.	0.3894|.	M|M	0.67700|0.67700	2.07|2.07	0.80722|0.80722	D|D	1|1	P;B;P|.	0.42010|.	0.768;0.068;0.693|.	P;B;P|.	0.52031|.	0.49;0.143;0.688|.	T|.	0.72792|.	-0.4186|.	10|.	0.10111|.	T|.	0.7|.	.|.	20.0805|20.0805	0.97772|0.97772	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3222;3222;3044|.	E5RIG2;Q96PZ7;F5H2I8|.	.;CSMD1_HUMAN;.|.	K|X	3045;3222;3083;3221;3044|2638	ENSP00000383047:T3045K;ENSP00000430733:T3222K;ENSP00000441462:T3221K;ENSP00000446243:T3044K|.	ENSP00000320445:T3083K|.	T|Y	-|-	2|3	0|2	CSMD1|CSMD1	2806110|2806110	1.000000|1.000000	0.71417|0.71417	0.104000|0.104000	0.21259|0.21259	0.343000|0.343000	0.28985|0.28985	5.299000|5.299000	0.65716|0.65716	2.755000|2.755000	0.94549|0.94549	0.650000|0.650000	0.86243|0.86243	ACG|TAC		0.348	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2		NM_033225	
DNAH5	1767	broad.mit.edu	37	5	13708443	13708443	+	Splice_Site	SNP	A	A	C			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr5:13708443A>C	ENST00000265104.4	-	76	13231	c.13127T>G	c.(13126-13128)gTa>gGa	p.V4376G		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4376					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.V4376G(1)|p.V4376A(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCTCTCTTTTACCTGCCATGG	0.473									Kartagener syndrome																																								2	Substitution - Missense(2)	kidney(1)|endometrium(1)											71.0	70.0	70.0					5																	13708443		2203	4300	6503	SO:0001630	splice_region_variant	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.13126-1T>G	5.37:g.13708443A>C			Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.434529	0.83776	.	.	ENSG00000039139	ENST00000265104	T	0.09445	2.98	5.2	5.2	0.72013	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.37652	0.1011	M	0.87900	2.915	0.80722	D	1	D	0.56521	0.976	D	0.69654	0.965	T	0.33650	-0.9860	10	0.51188	T	0.08	.	15.3636	0.74503	1.0:0.0:0.0:0.0	.	4376	Q8TE73	DYH5_HUMAN	G	4376	ENSP00000265104:V4376G	ENSP00000265104:V4376G	V	-	2	0	DNAH5	13761443	1.000000	0.71417	0.995000	0.50966	0.975000	0.68041	9.232000	0.95325	2.087000	0.62958	0.533000	0.62120	GTA		0.473	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2		NM_001369	Missense_Mutation
DTWD2	285605	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	118280326	118280326	+	Silent	SNP	A	A	G			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr5:118280326A>G	ENST00000510708.1	-	2	270	c.237T>C	c.(235-237)tgT>tgC	p.C79C	DTWD2_ENST00000304058.4_Silent_p.C13C|DTWD2_ENST00000515439.3_Silent_p.C79C	NM_173666.2	NP_775937.1	Q8NBA8	DTWD2_HUMAN	DTW domain containing 2	79								p.C79C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)	13		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)		ATGGACACAAACACACTTTCT	0.353																																																	1	Substitution - coding silent(1)	kidney(1)											102.0	106.0	105.0					5																	118280326		2202	4300	6502	SO:0001819	synonymous_variant	285605				CCDS34216.1	5q23.1	2008-02-05			ENSG00000169570	ENSG00000169570			19334	protein-coding gene	gene with protein product							Standard	NM_173666		Approved	FLJ33977	uc003ksa.3	Q8NBA8	OTTHUMG00000162956	ENST00000510708.1:c.237T>C	5.37:g.118280326A>G				Silent	SNP	ENST00000510708.1	37	CCDS34216.1																																																																																				0.353	DTWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371167.2		NM_173666	
ESCO1	114799	hgsc.bcm.edu;ucsc.edu	37	18	19154328	19154329	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr18:19154328_19154329insT	ENST00000269214.5	-	4	1413_1414	c.476_477insA	c.(475-477)cagfs	p.Q159fs		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	159					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TACTGCTACACTGCTCTTTTTT	0.361																																																	0																																										SO:0001589	frameshift_variant	114799			AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"""establishment of cohesion 1 homolog 1 (S. cerevisiae)"""			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.477dupA	18.37:g.19154329_19154329dupT	ENSP00000269214:p.Gln159fs		B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Frame_Shift_Ins	INS	ENST00000269214.5	37	CCDS32800.1																																																																																				0.361	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1		NM_052911	
FBLN7	129804	broad.mit.edu	37	2	112896287	112896287	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr2:112896287C>A	ENST00000331203.2	+	1	326	c.55C>A	c.(55-57)Ccc>Acc	p.P19T	FBLN7_ENST00000409903.1_Missense_Mutation_p.P19T|FBLN7_ENST00000409667.3_Missense_Mutation_p.P19T|FBLN7_ENST00000409450.3_Missense_Mutation_p.P19T	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	19					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.P19T(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CCTCGCCTGCCCCGAGCCGCG	0.672																																																	1	Substitution - Missense(1)	kidney(1)											27.0	32.0	30.0					2																	112896287		2203	4297	6500	SO:0001583	missense	129804				CCDS2095.1, CCDS46391.1	2q13	2010-06-15			ENSG00000144152	ENSG00000144152		"""Fibulins"""	26740	protein-coding gene	gene with protein product		611551				17699513	Standard	NM_153214		Approved	FLJ37440, TM14	uc002tho.1	Q53RD9	OTTHUMG00000153267	ENST00000331203.2:c.55C>A	2.37:g.112896287C>A	ENSP00000331411:p.Pro19Thr		A0JNV1|A0JNV2|Q5H9P5|Q8N9G0	Missense_Mutation	SNP	ENST00000331203.2	37	CCDS2095.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.251058	0.22880	.	.	ENSG00000144152	ENST00000331203;ENST00000409903;ENST00000409667;ENST00000409450	T;T;T;T	0.80566	-1.39;-1.31;1.48;-1.35	3.55	0.75	0.18387	.	0.666605	0.14569	N	0.311566	T	0.69052	0.3068	L	0.47716	1.5	0.32587	N	0.527726	B;B;B;B	0.32829	0.386;0.275;0.099;0.267	B;B;B;B	0.28139	0.086;0.052;0.027;0.039	T	0.65565	-0.6137	10	0.34782	T	0.22	-11.1562	7.3246	0.26547	0.0:0.681:0.0:0.319	.	19;19;19;19	Q53RD9-4;Q53RD9-2;Q53RD9;B8ZZC1	.;.;FBLN7_HUMAN;.	T	19	ENSP00000331411:P19T;ENSP00000386295:P19T;ENSP00000386822:P19T;ENSP00000387000:P19T	ENSP00000331411:P19T	P	+	1	0	FBLN7	112612758	0.001000	0.12720	0.854000	0.33618	0.972000	0.66771	-0.708000	0.05035	0.147000	0.19030	-0.254000	0.11334	CCC		0.672	FBLN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330505.1		NM_153214	
IDS	3423	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	148577954	148577954	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chrX:148577954delT	ENST00000340855.6	-	6	1011	c.802delA	c.(802-804)atgfs	p.M268fs	IDS_ENST00000370441.4_Frame_Shift_Del_p.M268fs|IDS_ENST00000541269.1_Frame_Shift_Del_p.M57fs|IDS_ENST00000422081.2_Frame_Shift_Del_p.M57fs|IDS_ENST00000490775.1_5'UTR|IDS_ENST00000370443.4_Frame_Shift_Del_p.M268fs	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	268					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	lysosomal lumen (GO:0043202)	iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CTGATGTCCATCCAGGGGTTG	0.542																																																	0													175.0	144.0	155.0					X																	148577954		2203	4300	6503	SO:0001589	frameshift_variant	3423			M58342	CCDS14685.1, CCDS14686.1	Xq27.3-q28	2012-10-02	2008-08-01		ENSG00000010404	ENSG00000010404	3.1.6.13		5389	protein-coding gene	gene with protein product	"""Hunter syndrome"""	300823		SIDS			Standard	NM_006123		Approved		uc011mxe.2	P22304	OTTHUMG00000022615	ENST00000340855.6:c.802delA	X.37:g.148577954delT	ENSP00000339801:p.Met268fs		D3DWT4|Q14604|Q9BRM3	Frame_Shift_Del	DEL	ENST00000340855.6	37	CCDS14685.1																																																																																				0.542	IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058677.3			
IGF2R	3482	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	160465623	160465623	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr6:160465623T>G	ENST00000356956.1	+	13	1847	c.1699T>G	c.(1699-1701)Tca>Gca	p.S567A		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	567					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)	p.S567A(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	ACTCTCTTATTCAGATGGTGA	0.328																																																	1	Substitution - Missense(1)	kidney(1)											54.0	55.0	54.0					6																	160465623		2203	4300	6503	SO:0001583	missense	3482			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.1699T>G	6.37:g.160465623T>G	ENSP00000349437:p.Ser567Ala		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	T	13.49	2.253838	0.39896	.	.	ENSG00000197081	ENST00000356956	T	0.04083	3.71	5.91	1.83	0.25207	Mannose-6-phosphate receptor, binding (1);	0.420553	0.26349	N	0.024887	T	0.01976	0.0062	L	0.49126	1.545	0.37616	D	0.921107	B	0.26577	0.153	B	0.25140	0.058	T	0.39840	-0.9594	10	0.44086	T	0.13	-8.8585	8.6336	0.33935	0.1199:0.0:0.2504:0.6297	.	567	P11717	MPRI_HUMAN	A	567	ENSP00000349437:S567A	ENSP00000349437:S567A	S	+	1	0	IGF2R	160385613	0.161000	0.22892	0.859000	0.33776	0.804000	0.45430	0.619000	0.24388	0.429000	0.26202	0.533000	0.62120	TCA		0.328	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1		NM_000876	
JMJD6	23210	broad.mit.edu;hgsc.bcm.edu	37	17	74721938	74721938	+	Splice_Site	SNP	C	C	T			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr17:74721938C>T	ENST00000397625.4	-	2	244		c.e2-1		METTL23_ENST00000586738.1_5'Flank|METTL23_ENST00000589977.1_5'Flank|METTL23_ENST00000588783.1_5'Flank|JMJD6_ENST00000585429.1_Splice_Site|METTL23_ENST00000588822.1_5'Flank|METTL23_ENST00000341249.6_5'Flank|METTL23_ENST00000588302.1_5'Flank|JMJD6_ENST00000445478.2_Splice_Site|METTL23_ENST00000590964.1_5'Flank|METTL23_ENST00000586752.1_5'Flank|METTL23_ENST00000586200.1_5'Flank|METTL23_ENST00000591571.1_5'Flank	NM_015167.2	NP_055982.2	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6						cell surface receptor signaling pathway (GO:0007166)|erythrocyte development (GO:0048821)|heart development (GO:0007507)|histone H3-R2 demethylation (GO:0070078)|histone H4-R3 demethylation (GO:0070079)|kidney development (GO:0001822)|lung development (GO:0030324)|macrophage activation (GO:0042116)|mRNA processing (GO:0006397)|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine (GO:0018395)|recognition of apoptotic cell (GO:0043654)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|RNA splicing (GO:0008380)|sprouting angiogenesis (GO:0002040)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone demethylase activity (H3-R2 specific) (GO:0033746)|histone demethylase activity (H4-R3 specific) (GO:0033749)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)|peptidyl-lysine 5-dioxygenase activity (GO:0070815)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.?(2)		endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						CCACGTTATCCTGAGGGAATT	0.443																																																	2	Unknown(2)	kidney(2)											51.0	46.0	48.0					17																	74721938		1830	4088	5918	SO:0001630	splice_region_variant	23210			AB011157	CCDS42383.1, CCDS42384.1	17q25	2007-11-20	2007-02-16	2007-02-16	ENSG00000070495	ENSG00000070495			19355	protein-coding gene	gene with protein product		604914	"""phosphatidylserine receptor"""	PTDSR		11877474	Standard	NM_015167		Approved	PTDSR1, KIAA0585	uc002jsn.1	Q6NYC1	OTTHUMG00000169267	ENST00000397625.4:c.130-1G>A	17.37:g.74721938C>T			B3KMN8|B4DGX1|Q86VY0|Q8IUM5|Q9Y4E2	Splice_Site	SNP	ENST00000397625.4	37	CCDS42384.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.616806	0.46736	.	.	ENSG00000070495	ENST00000445478;ENST00000344991;ENST00000397625	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6798	0.91543	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	JMJD6	72233533	1.000000	0.71417	0.995000	0.50966	0.261000	0.26267	7.806000	0.86020	2.392000	0.81423	0.455000	0.32223	.		0.443	JMJD6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403211.1		NM_015167	Intron
LOC441666	441666	broad.mit.edu	37	10	42832147	42832147	+	RNA	SNP	G	G	T	rs199821318		TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr10:42832147G>T	ENST00000609841.1	-	0	1756					NR_024380.1																						CACAATTGTAGGGTTTCTCTC	0.353																																																	0																																												441666																															10.37:g.42832147G>T				RNA	SNP	ENST00000609841.1	37																																																																																					0.353	RP11-313J2.1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000472483.1			
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																																	0																																												650368					11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T				RNA	SNP	ENST00000529482.1	37																																																																																					0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			
LTBP2	4053	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	74972836	74972836	+	Silent	SNP	C	C	T			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr14:74972836C>T	ENST00000261978.4	-	28	4478	c.4092G>A	c.(4090-4092)gtG>gtA	p.V1364V	LTBP2_ENST00000556690.1_Silent_p.V1320V	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1364	Cys-rich.|EGF-like 16; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.V1364V(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AGGAGCCCTCCACGTTCTCAC	0.637																																																	1	Substitution - coding silent(1)	kidney(1)											98.0	96.0	97.0					14																	74972836		2203	4300	6503	SO:0001819	synonymous_variant	4053				CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.4092G>A	14.37:g.74972836C>T			Q99907|Q9NS51	Silent	SNP	ENST00000261978.4	37	CCDS9831.1																																																																																				0.637	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1		NM_000428	
MAT2A	4144	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	85768975	85768975	+	Silent	SNP	T	T	C			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr2:85768975T>C	ENST00000306434.3	+	5	552	c.429T>C	c.(427-429)acT>acC	p.T143T	MAT2A_ENST00000409017.1_Silent_p.T80T|MAT2A_ENST00000490878.1_3'UTR	NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	143					cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|methionine adenosyltransferase complex (GO:0048269)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)	p.T143T(1)		breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GCTATGCCACTGATGAAACTG	0.418																																																	1	Substitution - coding silent(1)	kidney(1)											123.0	110.0	114.0					2																	85768975		2203	4300	6503	SO:0001819	synonymous_variant	4144				CCDS1977.1	2p11.2	2008-06-03			ENSG00000168906	ENSG00000168906			6904	protein-coding gene	gene with protein product		601468				1426236, 9703951	Standard	NM_005911		Approved	SAMS2, MATA2, MATII	uc002spr.3	P31153	OTTHUMG00000130174	ENST00000306434.3:c.429T>C	2.37:g.85768975T>C			A8K511|B4DN45|D6W5L1|Q53SP5	Silent	SNP	ENST00000306434.3	37	CCDS1977.1																																																																																				0.418	MAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252491.2		NM_005911	
NHP2L1	4809	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	42071041	42071041	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr22:42071041C>T	ENST00000401959.1	-	4	599	c.283G>A	c.(283-285)Gtc>Atc	p.V95I	NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000355257.3_Missense_Mutation_p.V95I|NHP2L1_ENST00000402458.1_Missense_Mutation_p.V99I|NHP2L1_ENST00000215956.5_Missense_Mutation_p.V95I	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN	NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)	95					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ribosome biogenesis (GO:0042254)|RNA splicing (GO:0008380)	box C/D snoRNP complex (GO:0031428)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.V95I(1)		endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						GGCCTGGAGACCCCACAGGCT	0.552																																																	1	Substitution - Missense(1)	kidney(1)											80.0	75.0	77.0					22																	42071041		2203	4300	6503	SO:0001583	missense	4809				CCDS14022.1, CCDS33653.1	22q13	2009-01-06	2001-11-28		ENSG00000100138	ENSG00000100138			7819	protein-coding gene	gene with protein product	"""small nuclear ribonucleoprotein 15.5kDa (U4/U6.U5)"""	601304	"""non-histone chromosome protein 2 (S. cerevisiae)-like 1"", ""sperm specific antigen 1"""	SSFA1		8978773	Standard	NM_005008		Approved	SNU13, FA-1, SPAG12, SNRNP15-5, 15.5K	uc003bav.3	P55769	OTTHUMG00000151189	ENST00000401959.1:c.283G>A	22.37:g.42071041C>T	ENSP00000383949:p.Val95Ile			Missense_Mutation	SNP	ENST00000401959.1	37	CCDS14022.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.075861	0.36662	.	.	ENSG00000100138	ENST00000355257;ENST00000215956;ENST00000401959;ENST00000402458	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	5.34	4.33	0.51752	Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.054035	0.64402	N	0.000001	T	0.59972	0.2233	L	0.41710	1.295	0.80722	D	1	D	0.64830	0.994	P	0.61132	0.884	T	0.60419	-0.7267	10	0.44086	T	0.13	.	14.2921	0.66286	0.0:0.928:0.0:0.072	.	95	P55769	NH2L1_HUMAN	I	95;95;95;99	ENSP00000347401:V95I;ENSP00000215956:V95I;ENSP00000383949:V95I;ENSP00000383989:V99I	ENSP00000215956:V95I	V	-	1	0	NHP2L1	40400987	1.000000	0.71417	0.974000	0.42286	0.273000	0.26683	7.445000	0.80570	1.400000	0.46741	-0.229000	0.12294	GTC		0.552	NHP2L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321682.1		NM_001003796	
OR4D1	26689	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	56232813	56232813	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr17:56232813A>G	ENST00000268912.5	+	1	320	c.299A>G	c.(298-300)cAg>cGg	p.Q100R		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	100					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q100R(1)		kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						TGCATGGCCCAGATCTTCTTC	0.532																																																	1	Substitution - Missense(1)	kidney(1)											109.0	114.0	112.0					17																	56232813		2176	4284	6460	SO:0001583	missense	26689			X89670	CCDS42365.1	17q22	2012-08-09			ENSG00000141194	ENSG00000141194		"""GPCR / Class A : Olfactory receptors"""	8293	protein-coding gene	gene with protein product				OR4D3		9119360	Standard	NM_012374		Approved	TPCR16	uc010wno.2	Q15615		ENST00000268912.5:c.299A>G	17.37:g.56232813A>G	ENSP00000365451:p.Gln100Arg		B2RN14|Q8NGB1|Q96R76	Missense_Mutation	SNP	ENST00000268912.5	37	CCDS42365.1	.	.	.	.	.	.	.	.	.	.	a	23.4	4.410484	0.83340	.	.	ENSG00000141194	ENST00000268912	T	0.00466	7.23	5.63	5.63	0.86233	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000030	T	0.03348	0.0097	H	0.98883	4.36	0.45239	D	0.998241	D	0.71674	0.998	D	0.81914	0.995	T	0.00611	-1.1645	10	0.87932	D	0	-14.4454	13.7938	0.63157	1.0:0.0:0.0:0.0	.	100	Q15615	OR4D1_HUMAN	R	100	ENSP00000365451:Q100R	ENSP00000365451:Q100R	Q	+	2	0	OR4D1	53587812	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.113000	0.64640	2.142000	0.66516	0.443000	0.29094	CAG		0.532	OR4D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443364.1			
OR5P2	120065	hgsc.bcm.edu	37	11	7818383	7818384	+	In_Frame_Ins	INS	-	-	ATATGGTTACCAGGTAGATGC	rs138967151	byFrequency	TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr11:7818383_7818384insATATGGTTACCAGGTAGATGC	ENST00000329434.2	-	1	136_137	c.106_107insGCATCTACCTGGTAACCATAT	c.(106-108)tct>tGCATCTACCTGGTAACCATATct	p.35_36insCIYLVTI	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GAGATTACCAGATAGGATGATC	0.436														1170	0.233626	0.3404	0.2896	5008	,	,		17899	0.128		0.2763	False		,,,				2504	0.1145																0																																										SO:0001652	inframe_insertion	120065			AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"""GPCR / Class A : Olfactory receptors"""	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.106_107insGCATCTACCTGGTAACCATAT	11.37:g.7818383_7818384insATATGGTTACCAGGTAGATGC	ENSP00000331823:p.Leu35_Ser36insCysIleTyrLeuValThrIle		Q3MIS8	In_Frame_Ins	INS	ENST00000329434.2	37	CCDS7782.1																																																																																				0.436	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385696.1		NM_153444	
MED29	55588	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	39880362	39880362	+	5'Flank	SNP	G	G	C			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr19:39880362G>C	ENST00000599213.2	+	0	0				PAF1_ENST00000595564.1_Missense_Mutation_p.H60Q|PAF1_ENST00000221266.7_Missense_Mutation_p.H60Q|PAF1_ENST00000221265.3_Missense_Mutation_p.H70Q|MED29_ENST00000315588.5_5'Flank|MED29_ENST00000594368.1_5'Flank			Q9NX70	MED29_HUMAN	mediator complex subunit 29						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)		p.H70Q(1)		lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			GGTCATGTTTGTGCTGTTTCT	0.552																																																	1	Substitution - Missense(1)	kidney(1)											200.0	173.0	182.0					19																	39880362		2203	4300	6503	SO:0001631	upstream_gene_variant	54623			AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"""intersex-like (Drosophila)"""	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70			19.37:g.39880362G>C	Exception_encountered		B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Missense_Mutation	SNP	ENST00000599213.2	37		.	.	.	.	.	.	.	.	.	.	g	16.82	3.229035	0.58777	.	.	ENSG00000006712	ENST00000221265;ENST00000221266	.	.	.	5.29	1.98	0.26296	.	0.000000	0.85682	D	0.000000	T	0.46073	0.1374	L	0.42245	1.32	0.80722	D	1	D;P	0.52996	0.957;0.719	P;P	0.49192	0.466;0.602	T	0.24440	-1.0160	9	0.26408	T	0.33	-31.4491	7.4857	0.27432	0.2667:0.0:0.7333:0.0	.	60;70	F8W9Q2;Q8N7H5	.;PAF1_HUMAN	Q	70;60	.	ENSP00000221265:H70Q	H	-	3	2	PAF1	44572202	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.695000	0.47043	0.369000	0.24510	0.558000	0.71614	CAC		0.552	MED29-011	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470870.1		XM_290829	
PRAMEF1	65121	broad.mit.edu;hgsc.bcm.edu	37	1	12854406	12854406	+	Silent	SNP	G	G	A			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr1:12854406G>A	ENST00000332296.7	+	3	733	c.630G>A	c.(628-630)ctG>ctA	p.L210L	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	210					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.L210L(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTCAAGAGCTGGAAATTCGCA	0.403																																																	2	Substitution - coding silent(2)	kidney(2)											353.0	322.0	332.0					1																	12854406		2203	4300	6503	SO:0001819	synonymous_variant	65121			AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.630G>A	1.37:g.12854406G>A			Q9UQP2	Silent	SNP	ENST00000332296.7	37	CCDS148.1																																																																																				0.403	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1		NM_023013	
POGK	57645	broad.mit.edu;hgsc.bcm.edu	37	1	166816822	166816822	+	Silent	SNP	C	C	G			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr1:166816822C>G	ENST00000367875.1	+	4	711	c.351C>G	c.(349-351)acC>acG	p.T117T	POGK_ENST00000367876.4_Silent_p.T117T|POGK_ENST00000537173.1_Intron|POGK_ENST00000536514.1_Silent_p.T32T			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	117	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.T117T(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						AAGGAGGCACCTCTGCAGGTA	0.493																																					GBM(76;192 1530 30153 48742)												1	Substitution - coding silent(1)	kidney(1)											59.0	52.0	54.0					1																	166816822		2203	4300	6503	SO:0001819	synonymous_variant	57645			AB040946	CCDS1254.1	1q23.2	2013-01-08			ENSG00000143157	ENSG00000143157		"""-"""	18800	protein-coding gene	gene with protein product	"""KRAB box domain containing 2"""						Standard	NM_017542		Approved	KIAA15131, LST003, BASS2, KRBOX2	uc001gdt.1	Q9P215	OTTHUMG00000034325	ENST00000367875.1:c.351C>G	1.37:g.166816822C>G			Q5TIJ1|Q8TE07	Silent	SNP	ENST00000367875.1	37	CCDS1254.1																																																																																				0.493	POGK-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082888.1		NM_017542	
PSME4	23198	broad.mit.edu	37	2	54176396	54176396	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr2:54176396T>A	ENST00000404125.1	-	2	322	c.267A>T	c.(265-267)aaA>aaT	p.K89N	PSME4_ENST00000421748.2_Missense_Mutation_p.N4I	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	89					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)	p.K89N(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CTTTGCTAAATTTTCTCCCAT	0.338																																																	1	Substitution - Missense(1)	kidney(1)											90.0	74.0	79.0					2																	54176396		692	1591	2283	SO:0001583	missense	23198			D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.267A>T	2.37:g.54176396T>A	ENSP00000384211:p.Lys89Asn		Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	CCDS33197.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.03|14.03	2.412773|2.412773	0.42817|0.42817	.|.	.|.	ENSG00000068878|ENSG00000068878	ENST00000404125|ENST00000421748	T|T	0.04809|0.28069	3.55|1.63	5.1|5.1	3.95|3.95	0.45737|0.45737	.|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.40196|0.40196	0.1107|0.1107	M|M	0.81341|0.81341	2.54|2.54	0.25453|0.25453	N|N	0.987982|0.987982	D|P	0.55172|0.40794	0.97|0.729	B|B	0.40375|0.42692	0.327|0.395	T|T	0.35773|0.35773	-0.9775|-0.9775	10|9	0.30854|0.87932	T|D	0.27|0	.|.	9.0078|9.0078	0.36122|0.36122	0.0:0.1509:0.0:0.8491|0.0:0.1509:0.0:0.8491	.|.	89|4	Q14997|Q14997-3	PSME4_HUMAN|.	N|I	89|4	ENSP00000384211:K89N|ENSP00000410830:N4I	ENSP00000374643:K89N|ENSP00000410830:N4I	K|N	-|-	3|2	2|0	PSME4|PSME4	54029900|54029900	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	1.513000|1.513000	0.35823|0.35823	0.882000|0.882000	0.36016|0.36016	-0.250000|-0.250000	0.11733|0.11733	AAA|AAT		0.338	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1		XM_040158	
RNF40	9810	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	30777596	30777596	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr16:30777596G>T	ENST00000324685.6	+	9	1541	c.1106G>T	c.(1105-1107)cGc>cTc	p.R369L	RNF40_ENST00000563683.1_Intron|RNF40_ENST00000402121.3_Intron|RNF40_ENST00000357890.5_Intron	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	369					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R369L(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			ACCAATGAGCGCCTCAAGGTG	0.592																																																	1	Substitution - Missense(1)	kidney(1)											66.0	75.0	72.0					16																	30777596		2197	4300	6497	SO:0001583	missense	9810			AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"""RING-type (C3HC4) zinc fingers"""	16867	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"""	607700	"""ring finger protein 40"""			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.1106G>T	16.37:g.30777596G>T	ENSP00000325677:p.Arg369Leu		Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	ENST00000324685.6	37	CCDS10691.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.774709	0.70107	.	.	ENSG00000103549	ENST00000324685	T	0.29917	1.55	5.94	5.94	0.96194	.	0.058883	0.64402	D	0.000001	T	0.26919	0.0659	L	0.43152	1.355	0.80722	D	1	B;B	0.27932	0.19;0.194	B;B	0.28139	0.086;0.086	T	0.07366	-1.0776	10	0.72032	D	0.01	-15.8871	9.2118	0.37322	0.1536:0.0:0.8464:0.0	.	369;369	A8K6K1;O75150	.;BRE1B_HUMAN	L	369	ENSP00000325677:R369L	ENSP00000325677:R369L	R	+	2	0	RNF40	30685097	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.603000	0.67619	2.816000	0.96949	0.563000	0.77884	CGC		0.592	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255524.2		NM_014771	
SLC47A1	55244	broad.mit.edu;ucsc.edu	37	17	19470436	19470436	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr17:19470436A>G	ENST00000270570.4	+	14	1290	c.1204A>G	c.(1204-1206)Agt>Ggt	p.S402G	SLC47A1_ENST00000457293.1_Missense_Mutation_p.S402G|RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000571335.1_Missense_Mutation_p.S207G|SLC47A1_ENST00000395585.1_Missense_Mutation_p.S402G|SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000436810.2_Missense_Mutation_p.S379G	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	402					organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)	p.S402G(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	TCTGAGGGGGAGTGGAAATCA	0.537																																																	1	Substitution - Missense(1)	kidney(1)											326.0	262.0	284.0					17																	19470436		2203	4300	6503	SO:0001583	missense	55244				CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"""Solute carriers"""	25588	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 1"""	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.1204A>G	17.37:g.19470436A>G	ENSP00000270570:p.Ser402Gly		Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Missense_Mutation	SNP	ENST00000270570.4	37	CCDS11209.1	.	.	.	.	.	.	.	.	.	.	A	13.63	2.294614	0.40594	.	.	ENSG00000142494	ENST00000436810;ENST00000270570;ENST00000457293;ENST00000395585;ENST00000455670;ENST00000424755	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	5.25	2.76	0.32466	.	0.513245	0.22007	N	0.065939	T	0.32164	0.0820	L	0.58669	1.825	0.32893	D	0.512164	B;B;P;B;P	0.38110	0.268;0.271;0.618;0.425;0.523	B;B;B;B;B	0.42692	0.21;0.158;0.281;0.395;0.185	T	0.46162	-0.9211	10	0.59425	D	0.04	-5.7468	7.3612	0.26748	0.7804:0.0:0.081:0.1385	.	136;379;136;402;402	E7ENC3;E7EX57;B4DDH5;Q96FL8;Q96FL8-3	.;.;.;S47A1_HUMAN;.	G	379;402;402;402;136;114	ENSP00000407155:S379G;ENSP00000270570:S402G;ENSP00000415586:S402G;ENSP00000378951:S402G	ENSP00000270570:S402G	S	+	1	0	SLC47A1	19411028	0.002000	0.14202	0.168000	0.22838	0.899000	0.52679	1.579000	0.36536	0.831000	0.34780	0.533000	0.62120	AGT		0.537	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132250.1		NM_018242	
SPAG5	10615	hgsc.bcm.edu;ucsc.edu	37	17	26919284	26919284	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr17:26919284delT	ENST00000321765.5	-	3	1310	c.978delA	c.(976-978)gaafs	p.E326fs		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	326					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TACCAACATCTTCTACTGCTG	0.473																																																	0													107.0	101.0	103.0					17																	26919284		2203	4300	6503	SO:0001589	frameshift_variant	10615			AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"""mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126"""	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.978delA	17.37:g.26919284delT	ENSP00000323300:p.Glu326fs		O95213|Q9BWE8|Q9NT17|Q9UFE6	Frame_Shift_Del	DEL	ENST00000321765.5	37	CCDS32594.1																																																																																				0.473	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2		NM_006461	
TCOF1	6949	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	149743741	149743741	+	Missense_Mutation	SNP	G	G	T	rs145365677	byFrequency	TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr5:149743741G>T	ENST00000504761.2	+	3	230	c.230G>T	c.(229-231)cGt>cTt	p.R77L	TCOF1_ENST00000439160.2_Missense_Mutation_p.R77L|TCOF1_ENST00000394269.3_Missense_Mutation_p.R77L|TCOF1_ENST00000451292.1_Missense_Mutation_p.R77L|TCOF1_ENST00000513346.1_Missense_Mutation_p.R77L|TCOF1_ENST00000377797.3_Missense_Mutation_p.R77L|TCOF1_ENST00000323668.7_Missense_Mutation_p.R77L|TCOF1_ENST00000445265.2_Missense_Mutation_p.R77L			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	77					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)	p.R77L(2)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGAAAACCCGTGTGTCAGAC	0.557																																																	2	Substitution - Missense(2)	kidney(2)											100.0	95.0	97.0					5																	149743741		2203	4300	6503	SO:0001583	missense	6949				CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.230G>T	5.37:g.149743741G>T	ENSP00000421655:p.Arg77Leu		A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	ENST00000504761.2	37	CCDS54936.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.622203	0.46840	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000394269;ENST00000427724;ENST00000504761;ENST00000513346;ENST00000515516	D;D;D;D;D;T;D;D;D;D	0.88896	-1.8;-2.01;-1.83;-1.84;-1.96;1.56;-1.83;-1.97;-1.96;-2.44	4.95	4.09	0.47781	.	0.000000	0.42172	D	0.000755	D	0.93044	0.7786	M	0.76328	2.33	0.09310	N	1	D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;1.0;1.0	D;D;D;D;D;D	0.91635	0.997;0.999;0.997;0.994;0.999;0.999	D	0.86028	0.1511	10	0.87932	D	0	-8.6931	9.8892	0.41279	0.0966:0.0:0.9034:0.0	.	77;77;77;77;77;77	Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8;Q13428-5	.;.;.;TCOF_HUMAN;.;.	L	77;77;77;77;77;77;77;77;77;65	ENSP00000400939:R77L;ENSP00000367028:R77L;ENSP00000409944:R77L;ENSP00000325223:R77L;ENSP00000406888:R77L;ENSP00000377811:R77L;ENSP00000390717:R77L;ENSP00000421655:R77L;ENSP00000427484:R77L;ENSP00000426471:R65L	ENSP00000325223:R77L	R	+	2	0	TCOF1	149723934	0.775000	0.28604	0.062000	0.19696	0.220000	0.24768	4.670000	0.61583	1.409000	0.46915	0.563000	0.77884	CGT		0.557	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1		NM_001008656	
TONSL	4796	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	145666223	145666223	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr8:145666223C>G	ENST00000409379.3	-	9	1071	c.1042G>C	c.(1042-1044)Ggt>Cgt	p.G348R	AC084125.4_ENST00000442850.1_RNA|AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	348					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)	p.G189R(1)|p.G348R(1)		biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						CGCTCAGCACCCGGTCTGTCC	0.657																																																	2	Substitution - Missense(2)	kidney(2)											60.0	55.0	57.0					8																	145666223		2203	4299	6502	SO:0001583	missense	4796				CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.1042G>C	8.37:g.145666223C>G	ENSP00000386239:p.Gly348Arg		B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP	ENST00000409379.3	37	CCDS34968.2	.	.	.	.	.	.	.	.	.	.	C	16.84	3.234416	0.58886	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.74842	-0.88	4.88	3.79	0.43588	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.564938	0.18535	N	0.138391	T	0.65770	0.2723	L	0.47716	1.5	0.09310	N	1	P	0.45902	0.868	B	0.42319	0.383	T	0.56414	-0.7983	10	0.17832	T	0.49	-19.7915	11.3617	0.49646	0.0:0.8936:0.0:0.1064	.	348	Q96HA7	TONSL_HUMAN	R	348	ENSP00000386239:G348R	ENSP00000386239:G348R	G	-	1	0	TONSL	145637031	0.314000	0.24563	0.086000	0.20670	0.012000	0.07955	2.584000	0.46102	2.278000	0.76064	0.561000	0.74099	GGT		0.657	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2		NM_013432	
TRPM7	54822	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	50891464	50891464	+	Missense_Mutation	SNP	A	A	C	rs370499022		TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr15:50891464A>C	ENST00000313478.7	-	22	3299	c.3018T>G	c.(3016-3018)atT>atG	p.I1006M	TRPM7_ENST00000560955.1_Missense_Mutation_p.I1006M	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1006					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.I1006M(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		CAAGAGCCATAATCACTACAA	0.338																																																	1	Substitution - Missense(1)	kidney(1)											95.0	94.0	94.0					15																	50891464		1840	4084	5924	SO:0001583	missense	54822			AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.3018T>G	15.37:g.50891464A>C	ENSP00000320239:p.Ile1006Met		Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	A	14.12	2.440377	0.43326	.	.	ENSG00000092439	ENST00000313478	T	0.77098	-1.07	5.54	4.39	0.52855	Ion transport (1);	0.000000	0.85682	D	0.000000	T	0.80844	0.4701	L	0.33093	0.98	0.48632	D	0.999683	D	0.76494	0.999	D	0.87578	0.998	T	0.79438	-0.1803	10	0.45353	T	0.12	-21.8101	11.2413	0.48970	0.8585:0.0:0.0:0.1415	.	1006	Q96QT4	TRPM7_HUMAN	M	1006	ENSP00000320239:I1006M	ENSP00000320239:I1006M	I	-	3	3	TRPM7	48678756	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.399000	0.34566	0.884000	0.36064	0.491000	0.48974	ATT		0.338	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1		NM_017672	
TSGA10IP	254187	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	65714961	65714961	+	RNA	SNP	C	C	T			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr11:65714961C>T	ENST00000532620.1	+	0	896				TSGA10IP_ENST00000608857.1_RNA			Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein									p.A192V(1)		endometrium(2)|kidney(3)|lung(9)	14						AGCCTGGGTGCTGAGGAGGCC	0.647																																																	1	Substitution - Missense(1)	kidney(1)											35.0	42.0	40.0					11																	65714961		1939	4128	6067			254187			AK057442	CCDS66138.1	11q13.1	2014-03-25			ENSG00000175513	ENSG00000175513			26555	protein-coding gene	gene with protein product						14702039	Standard	NM_152762		Approved	FLJ32880, FAM161C	uc001ogk.1	Q3SY00	OTTHUMG00000166753		11.37:g.65714961C>T			Q3SXZ9|Q3SY01|Q96M26	Missense_Mutation	SNP	ENST00000532620.1	37																																																																																					0.647	TSGA10IP-001	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000391373.2		NM_152762	
UBE4A	9354	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	118263549	118263549	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr11:118263549G>C	ENST00000431736.2	+	19	3106	c.3034G>C	c.(3034-3036)Gtg>Ctg	p.V1012L	UBE4A_ENST00000545354.1_Missense_Mutation_p.V477L|UBE4A_ENST00000252108.3_Missense_Mutation_p.V1005L					ubiquitination factor E4A									p.V1012L(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GTGTGACCCTGTGGTGCTGCC	0.478																																																	1	Substitution - Missense(1)	kidney(1)											190.0	172.0	178.0					11																	118263549		2200	4296	6496	SO:0001583	missense	9354			D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"""U-box domain containing"""	12499	protein-coding gene	gene with protein product		603753	"""ubiquitination factor E4A (homologous to yeast UFD2)"", ""ubiquitination factor E4A (UFD2 homolog, yeast)"""			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000431736.2:c.3034G>C	11.37:g.118263549G>C	ENSP00000387362:p.Val1012Leu			Missense_Mutation	SNP	ENST00000431736.2	37	CCDS8396.1	.	.	.	.	.	.	.	.	.	.	G	36	5.634973	0.96682	.	.	ENSG00000110344	ENST00000252108;ENST00000431736;ENST00000545354	T;T	0.79845	-1.28;-1.31	5.92	5.92	0.95590	Zinc finger, RING/FYVE/PHD-type (1);U box domain (2);	0.128849	0.52532	D	0.000065	D	0.95262	0.8463	H	0.99626	4.665	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.96970	0.9708	10	0.87932	D	0	-4.6646	20.3734	0.98896	0.0:0.0:1.0:0.0	.	1005;1012	Q14139;Q14139-2	UBE4A_HUMAN;.	L	1005;1012;477	ENSP00000252108:V1005L;ENSP00000387362:V1012L	ENSP00000252108:V1005L	V	+	1	0	UBE4A	117768759	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.820000	0.97059	0.650000	0.86243	GTG		0.478	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1		NM_004788	
UBN2	254048	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	138958746	138958746	+	Silent	SNP	T	T	A			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr7:138958746T>A	ENST00000473989.3	+	11	1899	c.1899T>A	c.(1897-1899)tcT>tcA	p.S633S	UBN2_ENST00000288561.8_Silent_p.S550S	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	633						extracellular space (GO:0005615)|nucleus (GO:0005634)		p.S550S(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						AAAGCCAGTCTGCTGAAGATT	0.368																																																	1	Substitution - coding silent(1)	kidney(1)											99.0	97.0	98.0					7																	138958746		1832	4087	5919	SO:0001819	synonymous_variant	254048			AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.1899T>A	7.37:g.138958746T>A			A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Silent	SNP	ENST00000473989.3	37	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	T	11.28	1.592018	0.28357	.	.	ENSG00000157741	ENST00000483726	.	.	.	5.09	1.03	0.20045	.	.	.	.	.	T	0.54287	0.1849	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42327	-0.9458	4	.	.	.	-11.7357	7.3841	0.26872	0.0:0.078:0.4217:0.5003	.	.	.	.	Q	402	.	.	L	+	2	0	UBN2	138609286	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	0.690000	0.25451	-0.007000	0.14345	0.528000	0.53228	CTG		0.368	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3		NM_173569	
BCRP7	100133163	broad.mit.edu	37	22	18846113	18846113	+	3'UTR	SNP	C	C	T			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr22:18846113C>T	ENST00000412938.1	+	0	3471																											ATCTCCTCCACGCACTGGCGC	0.612																																																	0																																										SO:0001624	3_prime_UTR_variant	0																														ENST00000412938.1:c.*3468C>T	22.37:g.18846113C>T				RNA	SNP	ENST00000412938.1	37																																																																																					0.612	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			
USP50	373509	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	50835798	50835798	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr15:50835798T>A	ENST00000532404.1	-	3	614	c.441A>T	c.(439-441)aaA>aaT	p.K147N	USP50_ENST00000530218.1_Intron	NM_203494.4	NP_987090.2	Q70EL3	UBP50_HUMAN	ubiquitin specific peptidase 50	152	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)	p.K152N(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5)	13				all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)		TACTTACCTTTTTTAGAGCTT	0.358																																																	1	Substitution - Missense(1)	kidney(1)											44.0	41.0	42.0					15																	50835798		1847	4087	5934	SO:0001583	missense	373509			AI990110	CCDS53944.1	15q21.1	2008-02-05	2005-08-08			ENSG00000170236		"""Ubiquitin-specific peptidases"""	20079	protein-coding gene	gene with protein product			"""ubiquitin specific protease 50"""			12838346	Standard	NM_203494		Approved		uc021sky.1	Q70EL3		ENST00000532404.1:c.441A>T	15.37:g.50835798T>A	ENSP00000434676:p.Lys147Asn		E9PP86	Missense_Mutation	SNP	ENST00000532404.1	37	CCDS53944.1	.	.	.	.	.	.	.	.	.	.	T	9.370	1.070220	0.20147	.	.	ENSG00000170236	ENST00000532404	T	0.29397	1.57	5.95	3.65	0.41850	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.106073	0.64402	D	0.000007	T	0.20700	0.0498	N	0.03930	-0.32	0.37707	D	0.924431	D	0.65815	0.995	D	0.74023	0.982	T	0.45527	-0.9255	10	0.02654	T	1	-15.6124	4.7775	0.13187	0.0:0.3109:0.0:0.6891	.	152	Q70EL3	UBP50_HUMAN	N	147	ENSP00000434676:K147N	ENSP00000434676:K147N	K	-	3	2	USP50	48623090	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	1.225000	0.32551	1.089000	0.41292	0.528000	0.53228	AAA		0.358	USP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395249.1			
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A	rs201972834		TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652																																																	10	Substitution - Missense(10)	kidney(7)|prostate(2)|endometrium(1)																																										374666					15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515299G>A				Missense_Mutation	SNP	ENST00000557932.1	37		.	.	.	.	.	.	.	.	.	.	g	2.376	-0.343229	0.05243	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-23.1056	7.9382	0.29941	0.0:0.0:1.0:0.0	.	.	.	.	S	383;374	.	.	G	+	1	0	WASH3P	100332822	1.000000	0.71417	0.997000	0.53966	0.230000	0.25150	8.205000	0.89743	0.863000	0.35553	0.184000	0.17185	GGC		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1		NM_199163	
WNT3A	89780	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	228246774	228246774	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr1:228246774G>T	ENST00000284523.1	+	4	745	c.667G>T	c.(667-669)Gac>Tac	p.D223Y	WNT3A_ENST00000366753.2_Missense_Mutation_p.D223Y	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	223					axis elongation involved in somitogenesis (GO:0090245)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cellular response to retinoic acid (GO:0071300)|COP9 signalosome assembly (GO:0010387)|dorsal/ventral neural tube patterning (GO:0021904)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|mammary gland development (GO:0030879)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesodermal cell fate commitment (GO:0048343)|platelet aggregation (GO:0070527)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000081)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dermatome development (GO:0061184)|positive regulation of mesodermal cell fate specification (GO:0048337)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of receptor internalization (GO:0002092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|regulation of microtubule cytoskeleton organization (GO:0070507)|skeletal muscle cell differentiation (GO:0035914)|spinal cord association neuron differentiation (GO:0021527)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription coactivator activity (GO:0003713)	p.D223Y(1)		kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				GTCGCAACCCGACTTCCGCGC	0.657																																																	1	Substitution - Missense(1)	kidney(1)											57.0	58.0	58.0					1																	228246774		2203	4300	6503	SO:0001583	missense	89780			AB060284	CCDS1564.1	1q42	2013-02-28			ENSG00000154342	ENSG00000154342		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	15983	protein-coding gene	gene with protein product		606359				11414706	Standard	NM_033131		Approved		uc001hrq.2	P56704	OTTHUMG00000037593	ENST00000284523.1:c.667G>T	1.37:g.228246774G>T	ENSP00000284523:p.Asp223Tyr		Q3SY79|Q3SY80|Q969P2	Missense_Mutation	SNP	ENST00000284523.1	37	CCDS1564.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132328	0.77662	.	.	ENSG00000154342	ENST00000284523;ENST00000366753	T;T	0.77098	-1.07;-1.07	4.58	4.58	0.56647	.	0.105824	0.64402	D	0.000006	D	0.89248	0.6661	M	0.91818	3.245	0.49915	D	0.999838	P;P	0.50943	0.618;0.94	P;P	0.58577	0.841;0.703	D	0.92141	0.5720	10	0.87932	D	0	.	17.726	0.88365	0.0:0.0:1.0:0.0	.	223;223	P56704;Q3SY79	WNT3A_HUMAN;.	Y	223	ENSP00000284523:D223Y;ENSP00000355715:D223Y	ENSP00000284523:D223Y	D	+	1	0	WNT3A	226313397	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	6.614000	0.74197	2.243000	0.73865	0.491000	0.48974	GAC		0.657	WNT3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091648.1		NM_033131	
