#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_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_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count
LGI1	9211	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	95557288	95557288	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr10:95557288A>G	ENST00000371418.4	+	8	1662	c.1402A>G	c.(1402-1404)Att>Gtt	p.I468V	LGI1_ENST00000371413.3_Intron|LGI1_ENST00000542308.1_Missense_Mutation_p.I420V	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	468					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|positive regulation of cell growth (GO:0030307)|positive regulation of synaptic transmission (GO:0050806)|protein homooligomerization (GO:0051260)	cell junction (GO:0030054)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|synapse (GO:0045202)	receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				GTTCCAGGATATTCAGAGGAT	0.428																																																0													101.0	99.0	100.0					10																	95557288		2203	4300	6503	SO:0001583	missense	9211			AF055636	CCDS7431.1	10q24	2008-08-01	2002-06-05		ENSG00000108231	ENSG00000108231			6572	protein-coding gene	gene with protein product		604619	"""epilepsy, partial"""	EPT		9879993, 11978770, 15079011	Standard	NM_005097		Approved	IB1099, ETL1, EPITEMPIN	uc001kjc.4	O95970	OTTHUMG00000018777	ENST00000371418.4:c.1402A>G	10.37:g.95557288A>G	ENSP00000360472:p.Ile468Val		A8K0Z1|B4E1S0|Q5W001|Q5W002|Q8NI23|Q96LF5	Missense_Mutation	SNP	ENST00000371418.4	37	CCDS7431.1	.	.	.	.	.	.	.	.	.	.	A	0.012	-1.672520	0.00758	.	.	ENSG00000108231	ENST00000542308;ENST00000371418	T;T	0.80653	-1.4;-1.4	5.17	2.82	0.32997	.	0.317607	0.32901	N	0.005510	T	0.59500	0.2198	L	0.28274	0.84	0.39859	D	0.97334	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.50294	-0.8845	10	0.02654	T	1	-8.2114	4.307	0.10951	0.6327:0.0:0.1791:0.1882	.	420;468	O95970-3;O95970	.;LGI1_HUMAN	V	420;468	ENSP00000440763:I420V;ENSP00000360472:I468V	ENSP00000360472:I468V	I	+	1	0	LGI1	95547278	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.755000	0.38379	0.990000	0.38787	-0.256000	0.11100	ATT		0.428	LGI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049445.1	NM_005097		28	23	28	23
PDCD11	22984	hgsc.bcm.edu;broad.mit.edu	37	10	105185105	105185105	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr10:105185105T>C	ENST00000369797.3	+	20	3222	c.3128T>C	c.(3127-3129)gTc>gCc	p.V1043A		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1043	S1 motif 9. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		ACAGGGACTGTCAAGTCCATT	0.502																																																0													192.0	144.0	160.0					10																	105185105		2203	4300	6503	SO:0001583	missense	22984			D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.3128T>C	10.37:g.105185105T>C	ENSP00000358812:p.Val1043Ala		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	T	29.4	5.001260	0.93227	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.69926	-0.44	6.04	6.04	0.98038	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (2);	0.054048	0.64402	D	0.000001	D	0.87724	0.6249	H	0.97240	3.965	0.58432	D	0.999999	D	0.69078	0.997	D	0.63703	0.917	D	0.91978	0.5592	10	0.87932	D	0	-17.4991	16.5763	0.84648	0.0:0.0:0.0:1.0	.	1043	Q14690	RRP5_HUMAN	A	1043	ENSP00000358812:V1043A	ENSP00000358812:V1043A	V	+	2	0	PDCD11	105175095	1.000000	0.71417	0.993000	0.49108	0.871000	0.50021	7.291000	0.78721	2.317000	0.78254	0.459000	0.35465	GTC		0.502	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			6	77	6	77
CCNB2	9133	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	59409442	59409442	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr15:59409442C>T	ENST00000288207.2	+	7	1041	c.850C>T	c.(850-852)Cac>Tac	p.H284Y	CCNB2_ENST00000559622.1_Intron	NM_004701.3	NP_004692.1	O95067	CCNB2_HUMAN	cyclin B2	284					G2/M transition of mitotic cell cycle (GO:0000086)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						TGTTGAACAGCACACTTTAGC	0.423																																																0													126.0	110.0	115.0					15																	59409442		2191	4291	6482	SO:0001583	missense	9133			AF002822	CCDS10170.1	15q21.3	2004-01-19			ENSG00000157456	ENSG00000157456			1580	protein-coding gene	gene with protein product		602755					Standard	NM_004701		Approved	HsT17299	uc002afz.3	O95067	OTTHUMG00000132715	ENST00000288207.2:c.850C>T	15.37:g.59409442C>T	ENSP00000288207:p.His284Tyr		B3KM93|Q6FI99	Missense_Mutation	SNP	ENST00000288207.2	37	CCDS10170.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925914	0.73327	.	.	ENSG00000157456	ENST00000288207	T	0.22743	1.94	5.48	5.48	0.80851	Cyclin, C-terminal (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.41465	0.1160	M	0.76574	2.34	0.80722	D	1	P	0.46277	0.875	P	0.52189	0.692	T	0.31447	-0.9943	10	0.72032	D	0.01	.	18.3301	0.90265	0.0:1.0:0.0:0.0	.	284	O95067	CCNB2_HUMAN	Y	284	ENSP00000288207:H284Y	ENSP00000288207:H284Y	H	+	1	0	CCNB2	57196734	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.818000	0.86416	2.574000	0.86865	0.655000	0.94253	CAC		0.423	CCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256016.1	NM_004701		12	46	12	46
BBS4	585	hgsc.bcm.edu;broad.mit.edu	37	15	73028230	73028230	+	Missense_Mutation	SNP	G	G	A	rs370963556		TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr15:73028230G>A	ENST00000268057.4	+	14	1212	c.1171G>A	c.(1171-1173)Gcc>Acc	p.A391T	BBS4_ENST00000539603.1_Missense_Mutation_p.A379T|BBS4_ENST00000542334.1_Missense_Mutation_p.A219T|BBS4_ENST00000395205.2_Missense_Mutation_p.A399T	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	391	Required for localization to centrosomes.				adult behavior (GO:0030534)|brain morphogenesis (GO:0048854)|centrosome organization (GO:0051297)|cerebral cortex development (GO:0021987)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|dendrite development (GO:0016358)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|maintenance of protein location in nucleus (GO:0051457)|melanosome transport (GO:0032402)|metabolic process (GO:0008152)|microtubule anchoring at centrosome (GO:0034454)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of systemic arterial blood pressure (GO:0003085)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of cilium assembly (GO:0045724)|positive regulation of multicellular organism growth (GO:0040018)|protein localization to centrosome (GO:0071539)|protein localization to organelle (GO:0033365)|protein transport (GO:0015031)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of cytokinesis (GO:0032465)|regulation of lipid metabolic process (GO:0019216)|retina homeostasis (GO:0001895)|retinal rod cell development (GO:0046548)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)|spermatid development (GO:0007286)|striatum development (GO:0021756)|visual perception (GO:0007601)	BBSome (GO:0034464)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary membrane (GO:0060170)|cilium (GO:0005929)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|dynactin binding (GO:0034452)|microtubule motor activity (GO:0003777)|RNA polymerase II repressing transcription factor binding (GO:0001103)			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						GAAGAAGAACGCCCTGGCCCA	0.483									Bardet-Biedl syndrome																																							0								G	THR/ALA	0,4396		0,0,2198	130.0	125.0	127.0		1171	5.7	1.0	15		127	1,8593	1.2+/-3.3	0,1,4296	no	missense	BBS4	NM_033028.3	58	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	391/520	73028230	1,12989	2198	4297	6495	SO:0001583	missense	585	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF090947	CCDS10246.1, CCDS58377.1	15q22.3-q23	2013-01-10			ENSG00000140463	ENSG00000140463		"""Tetratricopeptide (TTC) repeat domain containing"""	969	protein-coding gene	gene with protein product		600374				7711739, 11381270	Standard	NM_033028		Approved		uc002avb.3	Q96RK4	OTTHUMG00000133510	ENST00000268057.4:c.1171G>A	15.37:g.73028230G>A	ENSP00000268057:p.Ala391Thr		B4E178|Q53DZ5|Q8NHU9|Q96H45	Missense_Mutation	SNP	ENST00000268057.4	37	CCDS10246.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.102863	0.56183	0.0	1.16E-4	ENSG00000140463	ENST00000542334;ENST00000268057;ENST00000539603;ENST00000395205	T;D;D;D	0.91740	-0.67;-2.9;-2.9;-2.9	5.68	5.68	0.88126	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.164086	0.53938	D	0.000051	D	0.92564	0.7638	M	0.71581	2.175	0.80722	D	1	D;P;P	0.56035	0.974;0.945;0.956	P;B;B	0.45099	0.469;0.313;0.278	D	0.93404	0.6763	10	0.72032	D	0.01	-10.4598	17.98	0.89138	0.0:0.0:1.0:0.0	.	379;399;391	F5H7I8;Q96RK4-2;Q96RK4	.;.;BBS4_HUMAN	T	219;391;379;399	ENSP00000445964:A219T;ENSP00000268057:A391T;ENSP00000442492:A379T;ENSP00000378631:A399T	ENSP00000268057:A391T	A	+	1	0	BBS4	70815283	1.000000	0.71417	0.961000	0.40146	0.319000	0.28217	7.526000	0.81920	2.686000	0.91538	0.650000	0.86243	GCC		0.483	BBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257473.2	NM_033028		9	95	9	95
SLC35G6	643664	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	7385920	7385920	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr17:7385920G>A	ENST00000412468.2	+	2	732	c.617G>A	c.(616-618)gGg>gAg	p.G206E	POLR2A_ENST00000572844.1_5'Flank|ZBTB4_ENST00000311403.4_Intron|POLR2A_ENST00000322644.6_5'Flank	NM_001102614.1	NP_001096084.1	P0C7Q6	S35G6_HUMAN	solute carrier family 35, member G6	206						integral component of membrane (GO:0016021)											CTGTCCCTGGGGCTTCTGGTC	0.622																																																0													85.0	89.0	88.0					17																	7385920		2203	4300	6503	SO:0001583	missense	643664				CCDS45603.1	17p13.1	2013-05-22	2011-08-03	2011-08-03		ENSG00000259224		"""Solute carriers"""	31351	protein-coding gene	gene with protein product			"""transmembrane protein 21B"", ""acyl-malonyl condensing enzyme 1-like 3"""	TMEM21B, AMAC1L3			Standard	NM_001102614		Approved		uc010cmj.1	P0C7Q6		ENST00000412468.2:c.617G>A	17.37:g.7385920G>A	ENSP00000396523:p.Gly206Glu			Missense_Mutation	SNP	ENST00000412468.2	37	CCDS45603.1	.	.	.	.	.	.	.	.	.	.	G	7.287	0.610340	0.14066	.	.	ENSG00000181222	ENST00000412468	T	0.27402	1.67	4.25	2.22	0.28083	.	.	.	.	.	T	0.27098	0.0664	L	0.51422	1.61	0.29601	N	0.847687	B	0.18013	0.025	B	0.12837	0.008	T	0.20306	-1.0279	9	0.59425	D	0.04	-1.1302	8.2727	0.31853	0.1942:0.0:0.8058:0.0	.	206	P0C7Q6	S35G6_HUMAN	E	206	ENSP00000396523:G206E	ENSP00000396523:G206E	G	+	2	0	SLC35G6	7326644	1.000000	0.71417	0.998000	0.56505	0.146000	0.21551	2.257000	0.43240	0.378000	0.24764	-0.251000	0.11542	GGG		0.622	SLC35G6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001102614		57	105	57	105
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	7578466	7578466	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr17:7578466G>T	ENST00000269305.4	-	5	653	c.464C>A	c.(463-465)aCc>aAc	p.T155N	TP53_ENST00000445888.2_Missense_Mutation_p.T155N|TP53_ENST00000420246.2_Missense_Mutation_p.T155N|TP53_ENST00000455263.2_Missense_Mutation_p.T155N|TP53_ENST00000359597.4_Missense_Mutation_p.T155N|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.T155N	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	155	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		T -> A (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1868473}.|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation).|T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation; does not induce SNAI1 degradation). {ECO:0000269|PubMed:14660794}.|T -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.T155N(22)|p.T155I(14)|p.0?(8)|p.?(5)|p.P152fs*14(4)|p.G154fs*14(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.P151_V173del23(1)|p.G154_R156delGTR(1)|p.T155fs*25(1)|p.R156_A161del(1)|p.D148_T155delDSTPPPGT(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.T23N(1)|p.T62N(1)|p.T62I(1)|p.T23I(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*25(1)|p.T155_R156delTR(1)|p.T155S(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCGGACGCGGGTGCCGGGCGG	0.612		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	75	Substitution - Missense(41)|Deletion - Frameshift(14)|Whole gene deletion(8)|Deletion - In frame(6)|Unknown(5)|Insertion - Frameshift(1)	lung(14)|upper_aerodigestive_tract(11)|breast(8)|skin(6)|stomach(5)|oesophagus(5)|ovary(5)|central_nervous_system(4)|bone(4)|large_intestine(3)|liver(3)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|pancreas(2)|soft_tissue(1)	GRCh37	CM942117	TP53	M							50.0	52.0	51.0					17																	7578466		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.464C>A	17.37:g.7578466G>T	ENSP00000269305:p.Thr155Asn		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.529735	0.27387	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99778	-6.73;-6.73;-6.73;-6.73;-6.73;-6.73;-6.73;-6.73;-6.73	5.47	-0.466	0.12153	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.718085	0.14119	N	0.340173	D	0.99654	0.9872	M	0.76328	2.33	0.09310	N	1	D;P;B;P;B;P;P	0.56746	0.977;0.579;0.032;0.85;0.326;0.786;0.949	P;P;B;P;P;P;P	0.61201	0.885;0.6;0.098;0.676;0.721;0.782;0.707	D	0.99285	1.0897	10	0.87932	D	0	-6.4954	20.1723	0.98160	0.0:0.5036:0.4964:0.0	.	116;155;155;62;155;155;155	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	N	155;155;155;155;155;155;144;62;23;62;23;155	ENSP00000410739:T155N;ENSP00000352610:T155N;ENSP00000269305:T155N;ENSP00000398846:T155N;ENSP00000391127:T155N;ENSP00000391478:T155N;ENSP00000425104:T23N;ENSP00000423862:T62N;ENSP00000424104:T155N	ENSP00000269305:T155N	T	-	2	0	TP53	7519191	0.057000	0.20700	0.000000	0.03702	0.011000	0.07611	0.842000	0.27627	-0.440000	0.07211	-2.650000	0.00149	ACC		0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		83	13	83	13
EPG5	57724	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	18	43534467	43534467	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr18:43534467T>C	ENST00000282041.5	-	2	935	c.901A>G	c.(901-903)Agg>Ggg	p.R301G		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	301					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						AGTTGCTTCCTACATCGTGAG	0.423																																																0													109.0	105.0	106.0					18																	43534467		1926	4150	6076	SO:0001583	missense	57724			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.901A>G	18.37:g.43534467T>C	ENSP00000282041:p.Arg301Gly		A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	T	19.11	3.763338	0.69763	.	.	ENSG00000152223	ENST00000282041	T	0.17370	2.28	6.07	2.07	0.26955	.	0.657496	0.14976	N	0.287531	T	0.41050	0.1142	M	0.66939	2.045	0.47374	D	0.999403	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.42865	-0.9426	10	0.87932	D	0	-15.8834	16.2438	0.82431	0.0:0.0:0.5905:0.4095	.	301;301	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	G	301	ENSP00000282041:R301G	ENSP00000282041:R301G	R	-	1	2	EPG5	41788465	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	0.636000	0.24644	0.466000	0.27193	-0.313000	0.08912	AGG		0.423	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		43	45	43	45
MAP1S	55201	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	17845207	17845207	+	Silent	SNP	C	C	T			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr19:17845207C>T	ENST00000324096.4	+	7	3301	c.3150C>T	c.(3148-3150)gaC>gaT	p.D1050D	CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000544059.2_Silent_p.D1024D	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	1050	Necessary for association with actin. {ECO:0000250}.|Necessary for interaction with RASSF1 isoform A and isoform C.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						TGCAGGATGACGCCTTCCCGG	0.632																																																0													108.0	76.0	87.0					19																	17845207		2203	4300	6503	SO:0001819	synonymous_variant	55201			BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"""chromosome 19 open reading frame 5"", ""VCY2 interacting protein 1"", ""BPY2 interacting protein 1"""	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.3150C>T	19.37:g.17845207C>T			B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Silent	SNP	ENST00000324096.4	37	CCDS32954.1																																																																																				0.632	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174		23	56	23	56
MEIS3	56917	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	47910360	47910360	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr19:47910360T>C	ENST00000558555.1	-	10	1157	c.970A>G	c.(970-972)Atg>Gtg	p.M324V	MEIS3_ENST00000561096.1_Missense_Mutation_p.M412V|MEIS3_ENST00000560253.1_5'UTR|MEIS3_ENST00000331559.5_Missense_Mutation_p.M353V|MEIS3_ENST00000561293.1_Missense_Mutation_p.M370V|MEIS3_ENST00000559524.1_Missense_Mutation_p.M370V|MEIS3_ENST00000441740.2_Missense_Mutation_p.M307V			Q99687	MEIS3_HUMAN	Meis homeobox 3	324					negative regulation of apoptotic signaling pathway (GO:2001234)|positive regulation of protein kinase B signaling (GO:0051897)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		TGATCGATCATAGGTTGCACG	0.607																																																0													77.0	43.0	54.0					19																	47910360		2203	4300	6503	SO:0001583	missense	56917			BC025404	CCDS33064.1, CCDS46132.1, CCDS74406.1	19q13.32	2012-10-02	2007-02-15		ENSG00000105419	ENSG00000105419		"""Homeoboxes / TALE class"""	29537	protein-coding gene	gene with protein product			"""Meis1, myeloid ecotropic viral integration site 1 homolog 3 (mouse)"""			8950991	Standard	NM_020160		Approved	MRG2, DKFZp547H236	uc002pgt.4	Q99687	OTTHUMG00000172280	ENST00000558555.1:c.970A>G	19.37:g.47910360T>C	ENSP00000454073:p.Met324Val		A8K1N5|Q6NT73|Q8TC66|Q9NPW2	Missense_Mutation	SNP	ENST00000558555.1	37		.	.	.	.	.	.	.	.	.	.	T	21.0	4.087874	0.76642	.	.	ENSG00000105419	ENST00000331559;ENST00000441740;ENST00000437609	D	0.83506	-1.73	4.24	4.24	0.50183	Homeobox (1);	0.000000	0.85682	D	0.000000	D	0.88709	0.6510	M	0.74467	2.265	0.51767	D	0.99993	P;P;B;P;P	0.49447	0.924;0.886;0.174;0.599;0.924	P;P;B;B;P	0.60682	0.878;0.489;0.244;0.207;0.878	D	0.89800	0.3974	10	0.87932	D	0	-28.1673	11.6047	0.51024	0.0:0.0:0.0:1.0	.	216;324;307;370;199	Q8TCW1;Q99687;Q99687-3;Q99687-2;Q59FK5	.;MEIS3_HUMAN;.;.;.	V	370;307;1	ENSP00000388667:M307V	ENSP00000333552:M370V	M	-	1	0	MEIS3	52602172	1.000000	0.71417	0.984000	0.44739	0.980000	0.70556	7.064000	0.76721	1.915000	0.55452	0.358000	0.22013	ATG		0.607	MEIS3-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000417642.1	XM_085929		7	9	7	9
EIF3L	51386	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	22	38258980	38258980	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr22:38258980G>A	ENST00000412331.2	+	6	1022	c.440G>A	c.(439-441)gGa>gAa	p.G147E	EIF3L_ENST00000381683.6_Intron|EIF3L_ENST00000476955.1_Intron|EIF3L_ENST00000406934.1_Missense_Mutation_p.G49E	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L											kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TTACAGGGGGGACCTTCCTTG	0.388																																																0													91.0	91.0	91.0					22																	38258980		2203	4300	6503	SO:0001583	missense	51386			AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"""eukaryotic translation initiation factor 3, subunit 6 interacting protein"", ""eukaryotic translation initiation factor 3, subunit E interacting protein"""	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.440G>A	22.37:g.38258980G>A	ENSP00000416892:p.Gly147Glu			Missense_Mutation	SNP	ENST00000412331.2	37	CCDS13960.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.676162	0.88445	.	.	ENSG00000100129	ENST00000412331;ENST00000425539;ENST00000414316;ENST00000406934;ENST00000451427	T;T	0.40756	1.02;1.06	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.61388	0.2343	M	0.66297	2.02	0.80722	D	1	P;D;D	0.71674	0.831;0.992;0.998	B;P;P	0.61722	0.23;0.817;0.893	T	0.66598	-0.5883	10	0.87932	D	0	-9.2343	18.2336	0.89942	0.0:0.0:1.0:0.0	.	49;147;190	B0QY90;Q9Y262;B0QY89	.;EIF3L_HUMAN;.	E	147;190;164;49;123	ENSP00000416892:G147E;ENSP00000384634:G49E	ENSP00000384634:G49E	G	+	2	0	EIF3L	36588926	1.000000	0.71417	0.976000	0.42696	0.981000	0.71138	9.015000	0.93640	2.376000	0.81061	0.585000	0.79938	GGA		0.388	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319551.2	NM_016091		37	40	37	40
RAD51AP2	729475	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	17699300	17699300	+	Missense_Mutation	SNP	C	C	A	rs374447700		TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr2:17699300C>A	ENST00000399080.2	-	1	406	c.383G>T	c.(382-384)aGg>aTg	p.R128M		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	128										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCCTGAAGCCCTCAAATCAGA	0.488																																																0													75.0	74.0	75.0					2																	17699300		1896	4127	6023	SO:0001583	missense	729475			AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.383G>T	2.37:g.17699300C>A	ENSP00000382030:p.Arg128Met			Missense_Mutation	SNP	ENST00000399080.2	37	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.688247	0.48097	.	.	ENSG00000214842	ENST00000399080	T	0.34667	1.35	3.6	2.64	0.31445	.	.	.	.	.	T	0.39172	0.1068	L	0.27053	0.805	0.09310	N	1	D	0.71674	0.998	P	0.61477	0.889	T	0.11397	-1.0589	9	0.72032	D	0.01	-0.0403	6.6954	0.23195	0.0:0.8586:0.0:0.1414	.	128	Q09MP3	R51A2_HUMAN	M	128	ENSP00000382030:R128M	ENSP00000382030:R128M	R	-	2	0	RAD51AP2	17562781	0.001000	0.12720	0.002000	0.10522	0.013000	0.08279	0.339000	0.19875	0.983000	0.38602	0.655000	0.94253	AGG		0.488	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218		15	54	15	54
FAM179A	165186	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	29222093	29222093	+	Silent	SNP	G	G	A	rs575618435	byFrequency	TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr2:29222093G>A	ENST00000379558.4	+	4	537	c.186G>A	c.(184-186)ccG>ccA	p.P62P	FAM179A_ENST00000403861.2_Silent_p.P62P	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	62										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACGAGGAACCGTCACAGCTCC	0.627													G|||	2	0.000399361	0.0	0.0	5008	,	,		19376	0.0		0.0	False		,,,				2504	0.002															0													40.0	44.0	43.0					2																	29222093		2125	4233	6358	SO:0001819	synonymous_variant	165186			AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.186G>A	2.37:g.29222093G>A			Q6ZUF5	Silent	SNP	ENST00000379558.4	37	CCDS1769.2																																																																																				0.627	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		16	18	16	18
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	2835	Substitution - Missense(2834)|Complex - compound substitution(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)											79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His		Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			25	31	25	31
SLC6A20	54716	hgsc.bcm.edu;broad.mit.edu	37	3	45811778	45811778	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr3:45811778C>T	ENST00000358525.4	-	7	1136	c.1021G>A	c.(1021-1023)Gca>Aca	p.A341T	SLC6A20_ENST00000353278.4_Missense_Mutation_p.A304T|SLC6A20_ENST00000456124.2_Missense_Mutation_p.A341T	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	341					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|glycine transport (GO:0015816)|ion transport (GO:0006811)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		TAGGCAGATGCGAGGTAGCCC	0.522																																																0													133.0	110.0	118.0					3																	45811778		2203	4300	6503	SO:0001583	missense	54716			AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817		"""Solute carriers"""	30927	protein-coding gene	gene with protein product		605616				9932288, 11352561	Standard	NM_022405		Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.1021G>A	3.37:g.45811778C>T	ENSP00000346298:p.Ala341Thr		A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Missense_Mutation	SNP	ENST00000358525.4	37	CCDS43077.1	.	.	.	.	.	.	.	.	.	.	C	8.330	0.826242	0.16749	.	.	ENSG00000163817	ENST00000353278;ENST00000358525;ENST00000456124	T;T;T	0.76060	-0.99;-0.9;-0.91	4.0	4.0	0.46444	.	0.270197	0.36034	N	0.002839	T	0.47600	0.1454	N	0.10916	0.065	0.09310	N	1	D;P	0.54047	0.964;0.915	B;B	0.38264	0.176;0.269	T	0.40478	-0.9561	10	0.20519	T	0.43	.	7.6294	0.28230	0.0:0.7992:0.0:0.2008	.	304;341	Q9NP91-2;Q9NP91	.;S6A20_HUMAN	T	304;341;341	ENSP00000296133:A304T;ENSP00000346298:A341T;ENSP00000404310:A341T	ENSP00000296133:A304T	A	-	1	0	SLC6A20	45786782	0.356000	0.24930	0.052000	0.19188	0.118000	0.20060	2.502000	0.45398	2.210000	0.71456	0.563000	0.77884	GCA		0.522	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257318.3	NM_020208		4	67	4	67
CFTR	1080	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	117232112	117232112	+	Missense_Mutation	SNP	T	T	C	rs121908777		TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr7:117232112T>C	ENST00000003084.6	+	14	2023	c.1891T>C	c.(1891-1893)Tca>Cca	p.S631P	CFTR_ENST00000454343.1_Missense_Mutation_p.S570P	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	631	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	TGGGACATTTTCAGAACTCCA	0.338									Cystic Fibrosis																																							0													65.0	70.0	68.0					7																	117232112		2203	4300	6503	SO:0001583	missense	1080	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.1891T>C	7.37:g.117232112T>C	ENSP00000003084:p.Ser631Pro		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	T	14.83	2.652776	0.47362	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.90732	-2.72;-2.72;-2.72	5.63	5.63	0.86233	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.099514	0.64402	D	0.000001	D	0.86289	0.5897	L	0.28504	0.86	0.53005	D	0.999968	B	0.20052	0.041	B	0.21708	0.036	T	0.82635	-0.0360	10	0.51188	T	0.08	-17.5619	16.1358	0.81487	0.0:0.0:0.0:1.0	.	631	P13569	CFTR_HUMAN	P	631;570;601	ENSP00000003084:S631P;ENSP00000403677:S570P;ENSP00000389119:S601P	ENSP00000003084:S631P	S	+	1	0	CFTR	117019348	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.736000	0.55052	2.261000	0.74972	0.460000	0.39030	TCA		0.338	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		34	36	34	36
FSCN3	29999	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	127240376	127240376	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr7:127240376T>C	ENST00000265825.5	+	6	1639	c.1420T>C	c.(1420-1422)Tac>Cac	p.Y474H	FSCN3_ENST00000420086.2_Missense_Mutation_p.L338P	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	474						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						CAATGGCTTCTACATGCGAGC	0.517																																																0													83.0	73.0	76.0					7																	127240376		2203	4300	6503	SO:0001583	missense	29999				CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"""Fascins"""	3961	protein-coding gene	gene with protein product		615800	"""fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)"", ""fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"""			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.1420T>C	7.37:g.127240376T>C	ENSP00000265825:p.Tyr474His		A4D0Z2|A6NLL7|B2RA62|B4DU68	Missense_Mutation	SNP	ENST00000265825.5	37	CCDS34746.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.09|12.09	1.832752|1.832752	0.32421|0.32421	.|.	.|.	ENSG00000106328|ENSG00000106328	ENST00000420086|ENST00000265825	T|T	0.53423|0.65549	0.62|-0.16	5.74|5.74	5.74|5.74	0.90152|0.90152	.|Actin cross-linking (1);	.|0.000000	.|0.53938	.|D	.|0.000043	T|T	0.70133|0.70133	0.3189|0.3189	L|L	0.36672|0.36672	1.1|1.1	0.47778|0.47778	D|D	0.999513|0.999513	D|D	0.76494|0.76494	0.999|0.999	D|D	0.85130|0.75484	0.997|0.986	T|T	0.73167|0.73167	-0.4068|-0.4068	9|10	0.87932|0.87932	D|D	0|0	-31.9683|-31.9683	12.436|12.436	0.55600|0.55600	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	338|474	B4DU68|Q9NQT6	.|FSCN3_HUMAN	P|H	338|474	ENSP00000412243:L338P|ENSP00000265825:Y474H	ENSP00000412243:L338P|ENSP00000265825:Y474H	L|Y	+|+	2|1	0|0	FSCN3|FSCN3	127027612|127027612	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.855000|0.855000	0.48748|0.48748	4.304000|4.304000	0.59104|0.59104	2.177000|2.177000	0.69029|0.69029	0.533000|0.533000	0.62120|0.62120	CTA|TAC		0.517	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059256.2	NM_020369		14	36	14	36
EXT1	2131	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	118842536	118842536	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr8:118842536T>C	ENST00000378204.2	-	4	2023	c.1217A>G	c.(1216-1218)cAg>cGg	p.Q406R		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	406					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			TTGTGTCTGCTGTCTAAGTGC	0.378			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses																													yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	multiple exostoses type 1 gene		M	0													93.0	93.0	93.0					8																	118842536		2203	4300	6503	SO:0001583	missense	2131	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3512	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608177	"""Langer-Giedion syndrome chromosome region"", ""exostoses (multiple) 1"", ""exostosin 1"""	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.1217A>G	8.37:g.118842536T>C	ENSP00000367446:p.Gln406Arg		B2R7V2|Q9BVI9	Missense_Mutation	SNP	ENST00000378204.2	37	CCDS6324.1	.	.	.	.	.	.	.	.	.	.	t	31	5.065969	0.93898	.	.	ENSG00000182197	ENST00000378204	D	0.95482	-3.72	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.95912	0.8669	L	0.52011	1.625	0.80722	D	1	D	0.58620	0.983	P	0.58620	0.842	D	0.94377	0.7601	10	0.19590	T	0.45	-25.2808	16.8061	0.85666	0.0:0.0:0.0:1.0	.	406	Q16394	EXT1_HUMAN	R	406	ENSP00000367446:Q406R	ENSP00000367446:Q406R	Q	-	2	0	EXT1	118911717	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.036000	0.88901	2.367000	0.80283	0.528000	0.53228	CAG		0.378	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3	NM_000127		20	10	20	10
FREM1	158326	hgsc.bcm.edu;broad.mit.edu	37	9	14805068	14805068	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr9:14805068G>T	ENST00000380880.3	-	19	4140	c.3357C>A	c.(3355-3357)gaC>gaA	p.D1119E	FREM1_ENST00000422223.2_Missense_Mutation_p.D1119E|FREM1_ENST00000380881.4_Missense_Mutation_p.D1120E			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1119					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CCGTGAACTGGTCGGCAGTTG	0.438																																																0													163.0	157.0	159.0					9																	14805068		1944	4147	6091	SO:0001583	missense	158326			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.3357C>A	9.37:g.14805068G>T	ENSP00000370262:p.Asp1119Glu		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768481	0.49680	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.46451	0.87;0.87;0.87	5.42	-1.56	0.08532	.	0.000000	0.85682	D	0.000000	T	0.69540	0.3122	H	0.95504	3.68	0.42030	D	0.991028	D	0.89917	1.0	D	0.91635	0.999	T	0.75637	-0.3249	10	0.72032	D	0.01	-20.0316	11.8123	0.52189	0.4764:0.0:0.5236:0.0	.	1119	Q5H8C1	FREM1_HUMAN	E	1120;1119;1119	ENSP00000370263:D1120E;ENSP00000412940:D1119E;ENSP00000370262:D1119E	ENSP00000370257:D1122E	D	-	3	2	FREM1	14795068	1.000000	0.71417	0.842000	0.33263	0.163000	0.22366	1.050000	0.30404	-0.193000	0.10415	-0.142000	0.14014	GAC		0.438	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		6	56	6	56
ATRX	546	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	76855965	76855965	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chrX:76855965A>C	ENST00000373344.5	-	23	5849	c.5635T>G	c.(5635-5637)Tta>Gta	p.L1879V	ATRX_ENST00000395603.3_Missense_Mutation_p.L1841V|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1879					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ATTCTACTTAACATCTGAAAA	0.363			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											216.0	187.0	197.0					X																	76855965		2203	4296	6499	SO:0001583	missense	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5635T>G	X.37:g.76855965A>C	ENSP00000362441:p.Leu1879Val		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	A	15.53	2.860596	0.51482	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.95137	-3.62;-3.62	5.2	5.2	0.72013	SNF2-related (1);	0.000000	0.53938	U	0.000044	D	0.98015	0.9346	H	0.95470	3.675	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.91635	0.99;0.999	D	0.99016	1.0816	10	0.72032	D	0.01	-4.5329	14.125	0.65215	1.0:0.0:0.0:0.0	.	1841;1879	P46100-4;P46100	.;ATRX_HUMAN	V	1879;1841	ENSP00000362441:L1879V;ENSP00000378967:L1841V	ENSP00000362441:L1879V	L	-	1	2	ATRX	76742621	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.746000	0.74866	1.713000	0.51359	0.437000	0.28790	TTA		0.363	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		53	12	53	12
DROSHA	29102	broad.mit.edu;ucsc.edu	37	5	31526303	31526303	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr5:31526303G>A	ENST00000511367.2	-	4	981	c.737C>T	c.(736-738)tCc>tTc	p.S246F	DROSHA_ENST00000504361.1_5'Flank|DROSHA_ENST00000513349.1_Missense_Mutation_p.S246F|DROSHA_ENST00000442743.1_Missense_Mutation_p.S246F|DROSHA_ENST00000344624.3_Missense_Mutation_p.S246F	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	246	Arg-rich.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						CCGATCCAGGGACCGATGCCT	0.592																																																0													114.0	117.0	116.0					5																	31526303		2005	4157	6162	SO:0001583	missense	29102			AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.737C>T	5.37:g.31526303G>A	ENSP00000425979:p.Ser246Phe		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	CCDS47195.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.831597	0.50845	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188;ENST00000512302	T;T;T;T;T	0.52526	1.28;1.28;0.74;0.74;0.66	5.01	5.01	0.66863	.	0.240977	0.36665	N	0.002478	T	0.45054	0.1323	N	0.14661	0.345	0.34181	D	0.670932	D;P;P	0.57899	0.981;0.94;0.94	P;B;B	0.57101	0.813;0.272;0.272	T	0.45673	-0.9245	10	0.10902	T	0.67	-14.7433	18.3484	0.90329	0.0:0.0:1.0:0.0	.	246;246;246	Q9NRR4-2;E7EMP9;Q9NRR4	.;.;RNC_HUMAN	F	246;246;246;246;239;239;44	ENSP00000425979:S246F;ENSP00000339845:S246F;ENSP00000409335:S246F;ENSP00000424161:S246F;ENSP00000428782:S44F	ENSP00000265075:S239F	S	-	2	0	DROSHA	31562060	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.937000	0.63513	2.327000	0.79052	0.655000	0.94253	TCC		0.592	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		33	42	33	42
REV3L	5980	broad.mit.edu;hgsc.bcm.edu	37	6	111694047	111694050	+	Frame_Shift_Del	DEL	TAAA	TAAA	-	rs373958967		TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr6:111694047_111694050delTAAA	ENST00000358835.3	-	14	5962_5965	c.5508_5511delTTTA	c.(5506-5511)gatttafs	p.DL1836fs	REV3L_ENST00000435970.1_Frame_Shift_Del_p.DL1758fs|REV3L_ENST00000368802.3_Frame_Shift_Del_p.DL1836fs|REV3L_ENST00000368805.1_Frame_Shift_Del_p.DL1836fs			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1836					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CATACAGTTCTAAATCTTCACAGG	0.417								DNA polymerases (catalytic subunits)																																								0																																										SO:0001589	frameshift_variant	5980			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.5508_5511delTTTA	6.37:g.111694047_111694050delTAAA	ENSP00000351697:p.Asp1836fs		O43214|Q5TC33	Frame_Shift_Del	DEL	ENST00000358835.3	37	CCDS5091.2																																																																																				0.417	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		40	88	40	88
