#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	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_refseq_mrna_id	i_secondary_variant_classification
CEP152	22995	broad.mit.edu	37	15	49054838	49054838	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0165-01A-01D-1491-08	TCGA-06-0165-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1728988e-0877-4194-92c5-92c1ee6c5f5b	e27b2def-4e82-4c29-bbf1-51d4fffda600	g.chr15:49054838T>C	ENST00000380950.2	-	18	2499	c.2312A>G	c.(2311-2313)aAg>aGg	p.K771R	CEP152_ENST00000399334.3_Missense_Mutation_p.K771R|CEP152_ENST00000325747.5_Missense_Mutation_p.K678R	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	771					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CTGCCACTCCTTTTCAAGCTG	0.338																																						uc001zwy.2																			0				lung(2)	2						c.(2311-2313)AAG>AGG		centrosomal protein 152kDa							70.0	68.0	69.0					15																	49054838		1822	4081	5903	SO:0001583	missense	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49054838T>C	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.2312A>G	15.37:g.49054838T>C	ENSP00000370337:p.Lys771Arg					CEP152_uc001zwz.2_Missense_Mutation_p.K771R|CEP152_uc001zxa.1_Missense_Mutation_p.K678R	p.K771R	NM_014985	NP_055800	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	18	2346	-		all_lung(180;0.0428)	771			Potential.		E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	c.2312A>G	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	T	9.679	1.148909	0.21288	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334	T;T;T	0.54866	0.57;0.57;0.55	4.93	2.59	0.31030	.	0.278702	0.39615	N	0.001320	T	0.29190	0.0726	L	0.29908	0.895	0.26270	N	0.978441	B;B;B	0.18013	0.008;0.023;0.025	B;B;B	0.18561	0.009;0.011;0.022	T	0.23547	-1.0185	10	0.02654	T	1	-11.0555	4.0896	0.09963	0.1733:0.1357:0.0:0.6909	.	678;771;771	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	R	771;678;771	ENSP00000370337:K771R;ENSP00000321000:K678R;ENSP00000382271:K771R	ENSP00000321000:K678R	K	-	2	0	CEP152	46842130	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	0.346000	0.19997	0.961000	0.38030	0.533000	0.62120	AAG		0.338	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985	
ABCC1	4363	broad.mit.edu	37	16	16101808	16101808	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0165-01A-01D-1491-08	TCGA-06-0165-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1728988e-0877-4194-92c5-92c1ee6c5f5b	e27b2def-4e82-4c29-bbf1-51d4fffda600	g.chr16:16101808C>T	ENST00000399410.3	+	2	359	c.184C>T	c.(184-186)Cga>Tga	p.R62*	ABCC1_ENST00000351154.5_Nonsense_Mutation_p.R62*|ABCC1_ENST00000349029.5_Nonsense_Mutation_p.R62*|ABCC1_ENST00000345148.5_Nonsense_Mutation_p.R62*|ABCC1_ENST00000399408.2_Nonsense_Mutation_p.R62*|ABCC1_ENST00000346370.5_Nonsense_Mutation_p.R62*	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	62					arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	CCGACATGACCGAGGCTACAT	0.537																																						uc010bvi.2																			0				ovary(4)	4						c.(184-186)CGA>TGA		ATP-binding cassette, sub-family C, member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						193.0	175.0	181.0					16																	16101808		1916	4125	6041	SO:0001587	stop_gained	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16101808C>T	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.184C>T	16.37:g.16101808C>T	ENSP00000382342:p.Arg62*					ABCC1_uc010bvj.2_Nonsense_Mutation_p.R62*|ABCC1_uc010bvk.2_Nonsense_Mutation_p.R62*|ABCC1_uc010bvl.2_Nonsense_Mutation_p.R62*|ABCC1_uc010bvm.2_Nonsense_Mutation_p.R62*|ABCC1_uc002del.3_5'Flank	p.R62*	NM_004996	NP_004987	P33527	MRP1_HUMAN			2	359	+			62			Cytoplasmic.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Nonsense_Mutation	SNP	ENST00000399410.3	37	c.184C>T	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	C	37	6.368310	0.97511	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029	.	.	.	4.95	1.45	0.22620	.	0.205163	0.40908	D	0.000999	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.4043	12.5657	0.56308	0.5285:0.4715:0.0:0.0	.	.	.	.	X	62	.	ENSP00000263014:R62X	R	+	1	2	ABCC1	16009309	1.000000	0.71417	0.992000	0.48379	0.930000	0.56654	2.336000	0.43938	0.460000	0.27045	-0.202000	0.12741	CGA		0.537	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996	
B4GALT6	9331	broad.mit.edu	37	18	29225320	29225320	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0165-01A-01D-1491-08	TCGA-06-0165-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1728988e-0877-4194-92c5-92c1ee6c5f5b	e27b2def-4e82-4c29-bbf1-51d4fffda600	g.chr18:29225320T>C	ENST00000306851.5	-	4	765	c.469A>G	c.(469-471)Aag>Gag	p.K157E	B4GALT6_ENST00000383131.3_Missense_Mutation_p.K157E|B4GALT6_ENST00000237019.7_Missense_Mutation_p.K118E	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6	157					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)	p.K157E(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			TACCTCACCTTCCATCTGGGT	0.378																																						uc002kwz.3																			1	Substitution - Missense(1)		large_intestine(1)		0						c.(469-471)AAG>GAG		beta-1,4-galactosyltransferase 6							96.0	97.0	97.0					18																	29225320		2203	4300	6503	SO:0001583	missense	9331				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding	g.chr18:29225320T>C	AF038664	CCDS11900.1	18q11	2013-02-19			ENSG00000118276	ENSG00000118276		"""Beta 4-glycosyltransferases"""	929	protein-coding gene	gene with protein product	"""UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase"""	604017				9597550, 12180132	Standard	NM_004775		Approved	beta4GalT-VI	uc002kwz.4	Q9UBX8	OTTHUMG00000131980	ENST00000306851.5:c.469A>G	18.37:g.29225320T>C	ENSP00000306459:p.Lys157Glu					B4GALT6_uc010dma.2_Missense_Mutation_p.K118E|B4GALT6_uc010dmb.2_Missense_Mutation_p.K157E	p.K157E	NM_004775	NP_004766	Q9UBX8	B4GT6_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00791)		4	766	-			157			Lumenal (Potential).		O60514|Q6NT09	Missense_Mutation	SNP	ENST00000306851.5	37	c.469A>G	CCDS11900.1	.	.	.	.	.	.	.	.	.	.	T	18.78	3.697175	0.68386	.	.	ENSG00000118276	ENST00000306851;ENST00000237019;ENST00000383131	T;T;T	0.38560	1.91;1.91;1.13	5.81	4.65	0.58169	.	0.073085	0.56097	N	0.000030	T	0.67144	0.2862	M	0.88640	2.97	0.30358	N	0.784116	B;D;D	0.69078	0.019;0.997;0.997	B;D;D	0.72075	0.14;0.961;0.976	T	0.71781	-0.4489	10	0.72032	D	0.01	-21.0878	10.8356	0.46685	0.0:0.075:0.0:0.925	.	157;118;157	Q6NT09;G3XA83;Q9UBX8	.;.;B4GT6_HUMAN	E	157;118;157	ENSP00000306459:K157E;ENSP00000237019:K118E;ENSP00000372613:K157E	ENSP00000237019:K118E	K	-	1	0	B4GALT6	27479318	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.101000	0.76997	1.018000	0.39521	0.533000	0.62120	AAG		0.378	B4GALT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254942.2	NM_004775	
FRG1B	284802	broad.mit.edu	37	20	29625955	29625955	+	Nonsense_Mutation	SNP	A	A	T			TCGA-06-0165-01A-01D-1491-08	TCGA-06-0165-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1728988e-0877-4194-92c5-92c1ee6c5f5b	e27b2def-4e82-4c29-bbf1-51d4fffda600	g.chr20:29625955A>T	ENST00000278882.3	+	5	579	c.199A>T	c.(199-201)Aga>Tga	p.R67*	FRG1B_ENST00000439954.2_Nonsense_Mutation_p.R72*|FRG1B_ENST00000358464.4_Nonsense_Mutation_p.R67*			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	67										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AATTGGACCAAGAGAACAATG	0.338																																						uc010ztl.1																			0					0						c.(109-111)AGA>TGA		Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA.																																				SO:0001587	stop_gained	284802							g.chr20:29625955A>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.199A>T	20.37:g.29625955A>T	ENSP00000278882:p.Arg67*					FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Intron	p.R37*							2	141	+								C4AME5	Nonsense_Mutation	SNP	ENST00000278882.3	37	c.109A>T		.	.	.	.	.	.	.	.	.	.	a	29.6	5.022161	0.93462	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	.	.	.	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	7.3757	0.26827	1.0:0.0:0.0:0.0	.	.	.	.	X	67;72;67	.	ENSP00000278882:R67X	R	+	1	2	FRG1B	28239616	1.000000	0.71417	1.000000	0.80357	0.120000	0.20174	3.670000	0.54569	1.028000	0.39785	0.155000	0.16302	AGA		0.338	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	
DVL3	1857	broad.mit.edu	37	3	183884692	183884692	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0165-01A-01D-1491-08	TCGA-06-0165-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1728988e-0877-4194-92c5-92c1ee6c5f5b	e27b2def-4e82-4c29-bbf1-51d4fffda600	g.chr3:183884692G>A	ENST00000313143.3	+	11	1375	c.1127G>A	c.(1126-1128)gGc>gAc	p.G376D	DVL3_ENST00000431765.1_Missense_Mutation_p.G359D|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	376					canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|intracellular signal transduction (GO:0035556)|non-canonical Wnt signaling pathway (GO:0035567)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|outflow tract septum morphogenesis (GO:0003148)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cell cortex (GO:0005938)	beta-catenin binding (GO:0008013)|frizzled binding (GO:0005109)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CCTGCATACGGCATGAGCCCC	0.647																																						uc003fms.2																			0				ovary(1)|lung(1)|breast(1)	3						c.(1126-1128)GGC>GAC		dishevelled 3							127.0	119.0	122.0					3																	183884692		2203	4300	6503	SO:0001583	missense	1857				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity	g.chr3:183884692G>A	D86963	CCDS3253.1	3q27	2013-05-22	2013-05-22		ENSG00000161202	ENSG00000161202		"""Dishevelled homologs"""	3087	protein-coding gene	gene with protein product		601368	"""dishevelled 3 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 3 (Drosophila)"""			8817329	Standard	NM_004423		Approved	KIAA0208	uc003fms.3	Q92997	OTTHUMG00000156841	ENST00000313143.3:c.1127G>A	3.37:g.183884692G>A	ENSP00000316054:p.Gly376Asp					DVL3_uc011bqw.1_Missense_Mutation_p.G359D|DVL3_uc003fmt.2_Missense_Mutation_p.G47D|DVL3_uc003fmu.2_Missense_Mutation_p.G208D	p.G376D	NM_004423	NP_004414	Q92997	DVL3_HUMAN	Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)		11	1267	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		376					B4E3E5|D3DNT0|O14642|Q13531|Q8N5E9|Q92607	Missense_Mutation	SNP	ENST00000313143.3	37	c.1127G>A	CCDS3253.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.398229	0.83120	.	.	ENSG00000161202	ENST00000313143;ENST00000415612;ENST00000431765	T;T	0.04156	3.71;3.69	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.16557	0.0398	M	0.68593	2.085	0.80722	D	1	P;P;B;D	0.57257	0.94;0.94;0.232;0.979	P;P;B;P	0.55222	0.694;0.76;0.113;0.771	T	0.00172	-1.1958	10	0.33141	T	0.24	-34.8595	20.4387	0.99107	0.0:0.0:1.0:0.0	.	359;208;376;376	B4E3E5;Q9UG07;F5GWR8;Q92997	.;.;.;DVL3_HUMAN	D	376;376;359	ENSP00000316054:G376D;ENSP00000405885:G359D	ENSP00000316054:G376D	G	+	2	0	DVL3	185367386	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.008000	0.88588	2.836000	0.97738	0.655000	0.94253	GGC		0.647	DVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346184.1	NM_004423	
FAT4	79633	broad.mit.edu	37	4	126372195	126372195	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0165-01A-01D-1491-08	TCGA-06-0165-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1728988e-0877-4194-92c5-92c1ee6c5f5b	e27b2def-4e82-4c29-bbf1-51d4fffda600	g.chr4:126372195C>T	ENST00000394329.3	+	9	10037	c.10024C>T	c.(10024-10026)Cga>Tga	p.R3342*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.R1640*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3342	Cadherin 32. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGGTAATAGTCGAAAGAAGGG	0.408																																						uc003ifj.3																			0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(10024-10026)CGA>TGA		FAT tumor suppressor homolog 4 precursor							102.0	105.0	104.0					4																	126372195		2203	4300	6503	SO:0001587	stop_gained	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126372195C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.10024C>T	4.37:g.126372195C>T	ENSP00000377862:p.Arg3342*					FAT4_uc011cgp.1_Nonsense_Mutation_p.R1640*|FAT4_uc003ifi.1_Nonsense_Mutation_p.R820*	p.R3342*	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			9	10024	+			3342			Cadherin 32.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Nonsense_Mutation	SNP	ENST00000394329.3	37	c.10024C>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	49	15.784781	0.99845	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	.	.	.	5.42	1.88	0.25563	.	0.000000	0.36932	U	0.002340	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	13.0484	0.58939	0.6608:0.3392:0.0:0.0	.	.	.	.	X	3342;1640	.	ENSP00000335169:R1640X	R	+	1	2	FAT4	126591645	0.998000	0.40836	0.264000	0.24511	0.314000	0.28054	1.621000	0.36986	0.469000	0.27268	0.655000	0.94253	CGA		0.408	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
CCDC110	256309	broad.mit.edu	37	4	186380647	186380647	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0165-01A-01D-1491-08	TCGA-06-0165-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1728988e-0877-4194-92c5-92c1ee6c5f5b	e27b2def-4e82-4c29-bbf1-51d4fffda600	g.chr4:186380647C>T	ENST00000307588.3	-	6	1169	c.1094G>A	c.(1093-1095)gGc>gAc	p.G365D	CCDC110_ENST00000507501.1_5'Flank|CCDC110_ENST00000393540.3_Missense_Mutation_p.G328D|CCDC110_ENST00000510617.1_Missense_Mutation_p.G365D	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	365						nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		AATATTTTTGCCAGTGATGGG	0.323																																						uc003ixu.3																			0				central_nervous_system(1)	1						c.(1093-1095)GGC>GAC		coiled-coil domain containing 110 isoform a							138.0	145.0	142.0					4																	186380647		2203	4299	6502	SO:0001583	missense	256309					nucleus		g.chr4:186380647C>T	AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"""cancer/testis antigen 52"""	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.1094G>A	4.37:g.186380647C>T	ENSP00000306776:p.Gly365Asp					CCDC110_uc003ixv.3_Missense_Mutation_p.G328D|CCDC110_uc011ckt.1_Missense_Mutation_p.G365D	p.G365D	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)	6	1170	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)	365					Q86YI9|Q8N7W0	Missense_Mutation	SNP	ENST00000307588.3	37	c.1094G>A	CCDS3843.1	.	.	.	.	.	.	.	.	.	.	C	0.267	-0.995739	0.02145	.	.	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617	T;T;T	0.05855	3.38;3.39;3.39	4.83	1.06	0.20224	.	1.031690	0.07655	N	0.932585	T	0.03695	0.0105	N	0.13043	0.29	0.20926	N	0.999826	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.47947	-0.9077	10	0.12430	T	0.62	0.6331	6.5267	0.22305	0.0:0.5718:0.0:0.4282	.	365;328;365	B4DZA2;Q8TBZ0-2;Q8TBZ0	.;.;CC110_HUMAN	D	328;365;365	ENSP00000377172:G328D;ENSP00000306776:G365D;ENSP00000427246:G365D	ENSP00000306776:G365D	G	-	2	0	CCDC110	186617641	0.132000	0.22450	0.656000	0.29637	0.835000	0.47333	0.220000	0.17660	0.317000	0.23160	0.650000	0.86243	GGC		0.323	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775	
POM121C	100101267	broad.mit.edu	37	7	75051383	75051383	+	Missense_Mutation	SNP	C	C	T	rs369177631		TCGA-06-0165-01A-01D-1491-08	TCGA-06-0165-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1728988e-0877-4194-92c5-92c1ee6c5f5b	e27b2def-4e82-4c29-bbf1-51d4fffda600	g.chr7:75051383C>T	ENST00000257665.5	-	11	2877	c.2878G>A	c.(2878-2880)Gcc>Acc	p.A960T	POM121C_ENST00000453279.2_Missense_Mutation_p.A718T|POM121C_ENST00000473168.1_5'Flank			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	960	Pore side. {ECO:0000255}.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						GCTGGCTTGGCGGCCCCCGGT	0.662																																						uc003udk.3																			0					0						c.(2152-2154)GCC>ACC		POM121 membrane glycoprotein (rat)-like		C	THR/ALA	2,4108		0,2,2053	8.0	10.0	9.0		2152	-4.0	0.0	7		9	1,8229		0,1,4114	no	missense	POM121C	NM_001099415.1	58	0,3,6167	TT,TC,CC		0.0122,0.0487,0.0243	benign	718/988	75051383	3,12337	2055	4115	6170	SO:0001583	missense	100101267				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding	g.chr7:75051383C>T		CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"""POM121 membrane glycoprotein C"""			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238	ENST00000257665.5:c.2878G>A	7.37:g.75051383C>T	ENSP00000257665:p.Ala960Thr						p.A718T	NM_001099415	NP_001092885	A8CG34	P121C_HUMAN			13	3037	-			960			Pore side (Potential).		O75115|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000257665.5	37	c.2152G>A		.	.	.	.	.	.	.	.	.	.	C	0.032	-1.325575	0.01309	4.87E-4	1.22E-4	ENSG00000135213	ENST00000257665;ENST00000453279	T;T	0.17691	3.75;2.26	2.99	-3.97	0.04094	.	0.581381	0.14180	N	0.336064	T	0.05777	0.0151	N	0.11560	0.145	0.09310	N	1	B	0.27450	0.179	B	0.19148	0.024	T	0.41466	-0.9507	10	0.07990	T	0.79	.	9.0457	0.36345	0.0:0.2224:0.0:0.7776	.	960	A8CG34	P121C_HUMAN	T	960;718	ENSP00000257665:A960T;ENSP00000414208:A718T	ENSP00000257665:A960T	A	-	1	0	POM121C	74889319	0.028000	0.19301	0.001000	0.08648	0.108000	0.19459	-0.297000	0.08276	-0.960000	0.03613	-0.490000	0.04691	GCC		0.662	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	NM_001099415	
PAX5	5079	broad.mit.edu	37	9	37020696	37020696	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0165-01A-01D-1491-08	TCGA-06-0165-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1728988e-0877-4194-92c5-92c1ee6c5f5b	e27b2def-4e82-4c29-bbf1-51d4fffda600	g.chr9:37020696C>A	ENST00000358127.4	-	2	223	c.149G>T	c.(148-150)aGg>aTg	p.R50M	PAX5_ENST00000522003.1_Intron|PAX5_ENST00000520154.1_Missense_Mutation_p.R50M|PAX5_ENST00000377847.2_Missense_Mutation_p.R50M|PAX5_ENST00000520281.1_Missense_Mutation_p.R50M|PAX5_ENST00000523145.1_Intron|PAX5_ENST00000523241.1_Missense_Mutation_p.R50M|PAX5_ENST00000377852.2_Missense_Mutation_p.R50M|PAX5_ENST00000414447.1_Missense_Mutation_p.R50M|PAX5_ENST00000446742.1_Missense_Mutation_p.R50M|PAX5_ENST00000377853.2_Missense_Mutation_p.R50M	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	50	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.?(41)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		GTCGCAGGGCCTGACACCTTG	0.542			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""																																	uc003zzo.1				Dom	yes		9	9p13	5079	T|Mis|D|F|S	paired box gene 5 (B-cell lineage specific activator protein)			L	IGH@|ETV6|PML|FOXP1|ZNF521|ELN		NHL|ALL|B-ALL	PAX5/JAK2(18)	41	Unknown(41)	p.?(31)	haematopoietic_and_lymphoid_tissue(41)	haematopoietic_and_lymphoid_tissue(142)|lung(3)|central_nervous_system(2)	147						c.(148-150)AGG>ATG		paired box 5							129.0	120.0	123.0					9																	37020696		2203	4300	6503	SO:0001583	missense	5079				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr9:37020696C>A		CCDS6607.1, CCDS65039.1, CCDS65040.1, CCDS65041.1, CCDS65042.1, CCDS65043.1, CCDS65044.1, CCDS65045.1, CCDS65046.1, CCDS65047.1, CCDS65048.1	9p13.2	2011-06-20	2007-07-12		ENSG00000196092	ENSG00000196092		"""Paired boxes"", ""Homeoboxes / PRD class"""	8619	protein-coding gene	gene with protein product	"""B-cell lineage specific activator"""	167414	"""paired box gene 5 (B-cell lineage specific activator protein)"", ""paired box gene 5 (B-cell lineage specific activator)"""			1516825, 8431641	Standard	NM_016734		Approved	BSAP	uc003zzo.1	Q02548	OTTHUMG00000019907	ENST00000358127.4:c.149G>T	9.37:g.37020696C>A	ENSP00000350844:p.Arg50Met					PAX5_uc011lpw.1_Missense_Mutation_p.R50M|PAX5_uc011lpx.1_Missense_Mutation_p.R50M|PAX5_uc011lpy.1_Intron|PAX5_uc010mls.1_Missense_Mutation_p.R50M|PAX5_uc011lpz.1_Missense_Mutation_p.R50M|PAX5_uc011lqa.1_Intron|PAX5_uc010mlq.1_RNA|PAX5_uc011lqb.1_RNA|PAX5_uc010mlo.1_Missense_Mutation_p.R50M|PAX5_uc010mlp.1_Missense_Mutation_p.R50M|PAX5_uc011lqc.1_Missense_Mutation_p.R50M|PAX5_uc010mlr.1_Missense_Mutation_p.R50M|PAX5_uc011lqd.1_Missense_Mutation_p.R49M|PAX5_uc011lqe.1_Intron|PAX5_uc011lqf.1_Intron|PAX5_uc011lqg.1_Intron	p.R50M	NM_016734	NP_057953	Q02548	PAX5_HUMAN		GBM - Glioblastoma multiforme(29;0.0108)	2	597	-		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)	50			Paired.		A3QVP6|A3QVP7|A3QVP8|C0KTF6|C0KTF7|C0KTF8|C0KTF9|C0KTG0|O75933|Q5SFM2|Q6S728|Q6S729|Q6S730|Q6S731|Q6S732	Missense_Mutation	SNP	ENST00000358127.4	37	c.149G>T	CCDS6607.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.024086	0.93462	.	.	ENSG00000196092	ENST00000358127;ENST00000377853;ENST00000377852;ENST00000523241;ENST00000520154;ENST00000520281;ENST00000446742;ENST00000414447;ENST00000377847	D;D;D;D;D;D;D;D;D	0.99677	-6.37;-6.37;-6.37;-6.37;-6.37;-6.37;-6.37;-6.37;-6.37	5.59	5.59	0.84812	Paired box protein, N-terminal (5);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99857	0.9933	H	0.97214	3.96	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.993;1.0;1.0;0.993;1.0;1.0;0.999;0.993;0.993	D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.981;0.998;0.999;0.981;1.0;1.0;0.995;0.981;0.981	D	0.96686	0.9507	10	0.87932	D	0	.	19.5898	0.95506	0.0:1.0:0.0:0.0	.	49;50;50;50;50;50;50;50;50;50	C0KTF2;C0KTF8;C0KTF7;C0KTF9;C0KTF6;E7ERW5;E7EQT0;Q6S730;Q6S731;Q02548	.;.;.;.;.;.;.;.;.;PAX5_HUMAN	M	50	ENSP00000350844:R50M;ENSP00000367084:R50M;ENSP00000367083:R50M;ENSP00000429637:R50M;ENSP00000429291:R50M;ENSP00000430773:R50M;ENSP00000404687:R50M;ENSP00000412188:R50M;ENSP00000367078:R50M	ENSP00000350844:R50M	R	-	2	0	PAX5	37010696	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.624000	0.88883	0.655000	0.94253	AGG		0.542	PAX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052433.1		
