#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_CCF_CI95_high	i_CCF_CI95_low	i_CCF_CI_high	i_CCF_CI_low	i_CCF_hat	i_CCF_mean	i_CCF_median	i_CCF_mode	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_CancerGermlineMut	i_CGC_CancerMolecularGenetics	i_CGC_CancerSomaticMut	i_CGC_CancerSyndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_ChrBand	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_OtherGermlineMut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_TissueType	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_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_ExAC_AC	i_ExAC_AN	i_ExAC_LQ	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_IS_SCNA	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_SCNA_NA	i_SCNA_NB	i_SCNA_q_hat	i_SCNA_tau	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_bcgsc	i_broad	i_build	i_cDNA_Change	i_ccds_id	i_clonal	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_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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	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_dna_fraction_in_tumor	i_entrez_gene_id	i_external_id_capture	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_hgsc	i_igv_bad	i_localAssembly_detected	i_min_val_count_KRAS	i_min_val_count_localAssembly	i_min_val_count_rna	i_min_val_count_targeted	i_n_alt_count	i_n_alt_count_KRAS	i_n_alt_count_full	i_n_alt_count_localAssembly	i_n_ref_count	i_n_ref_count_KRAS	i_n_ref_count_full	i_n_ref_count_localAssembly	i_passExAC	i_ploidy	i_pon_loglike	i_pon_pass_loglike	i_purity	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_KRAS	i_t_alt_count_full	i_t_alt_count_localAssembly	i_t_ref_count_KRAS	i_t_ref_count_full	i_t_ref_count_localAssembly	i_ucsc	i_validation_judgement_KRAS	i_validation_judgement_localAssembly	i_validation_judgement_rna	i_validation_judgement_targeted	i_validation_normal_alt_count_rna	i_validation_normal_alt_count_targeted	i_validation_normal_ref_count_rna	i_validation_normal_ref_count_targeted	i_validation_power_KRAS	i_validation_power_localAssembly	i_validation_power_rna	i_validation_power_targeted	i_validation_tumor_alt_count_rna	i_validation_tumor_alt_count_targeted	i_validation_tumor_ref_count_rna	i_validation_tumor_ref_count_targeted	t_alt_count	t_ref_count
UNC5B	219699	broad.mit.edu	37	10	73046540	73046540	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr10:73046540G>A	ENST00000335350.6	+	5	1063	c.647G>A	c.(646-648)cGc>cAc	p.R216H	UNC5B_ENST00000373192.4_Missense_Mutation_p.R216H	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	216	Ig-like C2-type.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)		p.R216H(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CGCCAGGCCCGCCTGTCGGAC	0.597																																						ENST00000335350.6	1.000000	0.640000	1.000000	0.740000	0.850000	0.862540	0.850000	1.000000																										1	Substitution - Missense(1)	p.R216H(1)	large_intestine(1)	49						c.(646-648)cGc>cAc		unc-5 homolog B (C. elegans)							207.0	195.0	199.0					10																	73046540		2203	4300	6503	SO:0001583	missense	219699	3	121412	41				g.chr10:73046540G>A	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.647G>A	chr10.hg19:g.73046540G>A	ENSP00000334329:p.Arg216His	0					UNC5B_ENST00000373192.4_Missense_Mutation_p.R216H	p.R216H	NM_170744.4	NP_734465.2	1	2	3	2.004491	Q8IZJ1	UNC5B_HUMAN		5	1063	+			Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	1	0	hg19	c.647G>A	CCDS7309.1	1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227582	0.79576	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.67698	-0.28;-0.28	5.43	4.53	0.55603	5.430000	4.530000	0.556030	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.82407	0.5030	M	0.82630	2.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.85330	0.1089	10	0.87932	D	0	-34.0893	14.2307	0.65890	0.0717:0.0:0.9283:0.0	.	216;216	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	H	216	ENSP00000334329:R216H;ENSP00000362288:R216H	ENSP00000334329:R216H	R	+	2	0	0	UNC5B	72716546	72716546	1.000000	0.71417	0.984000	0.44739	0.372000	0.29890	9.869000	0.99810	1.312000	0.45043	0.561000	0.74099	CGC	0.097715		TCGA-HZ-8519-01A-11D-2396-08	0.597	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	0	0	0	2	23	3	2	1	1	1	2	310	310	310	303	1	2.020000	-3.734918	1	0.090000	NM_170744		0	60	60	0	1550	1360	1		1	1		1	0	310	0	0	0.999905	6.364578e-01	0	8	0	79	0	60	1550
GLB1L3	112937	broad.mit.edu	37	11	134182352	134182352	+	Missense_Mutation	SNP	G	G	A	rs376238782		TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr11:134182352G>A	ENST00000431683.2	+	14	1397	c.1397G>A	c.(1396-1398)cGc>cAc	p.R466H		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	466					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		TCCGGAGGCCGCCTCCGTGCC	0.607																																						ENST00000431683.2	1.000000	0.990000	1.000000	0.990000	0.990000	0.999673	0.990000	1.000000																										0				13						c.(1396-1398)cGc>cAc		galactosidase, beta 1-like 3		G	HIS/ARG	0,4206		0,0,2103	38.0	41.0	40.0		1397	-9.4	0.0	11		40	1,8443		0,1,4221	no	missense	GLB1L3	NM_001080407.2	29	0,1,6324	AA,AG,GG		0.0118,0.0,0.0079	benign	466/654	134182352	1,12649	2103	4222	6325	SO:0001583	missense	112937	1	121074	30				g.chr11:134182352G>A		CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.1397G>A	chr11.hg19:g.134182352G>A	ENSP00000396615:p.Arg466His	0						p.R466H	NM_001080407.2	NP_001073876.2	1	2	3	2.002372	Q8NCI6	GLBL3_HUMAN		14	1397	+	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)	A6NEM0|A6NN15|Q6P3S3|Q96FF8	Missense_Mutation	SNP	ENST00000431683.2	1	1	hg19	c.1397G>A	CCDS44780.1	1	.	.	.	.	.	.	.	.	.	.	G	6.749	0.507092	0.12883	0.0	1.18E-4	ENSG00000166105	ENST00000431683	D	0.92752	-3.1	4.69	-9.38	0.00623	4.690000	-9.380000	0.006230	.	5.286760	0.00166	N	0.000000	D	0.83760	0.5324	L	0.28400	0.85	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.71444	-0.4591	10	0.44086	T	0.13	.	4.4312	0.11529	0.0864:0.1553:0.3909:0.3674	.	466	Q8NCI6	GLBL3_HUMAN	H	466	ENSP00000396615:R466H	ENSP00000396615:R466H	R	+	2	0	0	GLB1L3	133687562	133687562	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.437000	0.02419	-3.768000	0.00109	-1.608000	0.00805	CGC	0.118559		TCGA-HZ-8519-01A-11D-2396-08	0.607	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1	1	0	1	2	2	2	2	0	0	0	0	61	61	61	61	1	2.020000	-19.999980	1	0.090000	NM_138416		0	19	19	0	215	211	0		1	0		0	0	61	0	0	0.999991	3.970214e-02	0	0	0	4	0	19	215
PHB2	11331	broad.mit.edu	37	12	7076924	7076924	+	Missense_Mutation	SNP	C	C	T	rs374555717		TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr12:7076924C>T	ENST00000535923.1	-	6	907	c.626G>A	c.(625-627)cGg>cAg	p.R209Q	PHB2_ENST00000544134.1_5'Flank|PHB2_ENST00000399433.2_Missense_Mutation_p.R209Q|PHB2_ENST00000546111.1_Intron|U47924.29_ENST00000606539.1_RNA|SCARNA12_ENST00000459155.1_RNA|PHB2_ENST00000440277.1_Intron|PHB2_ENST00000542912.1_Missense_Mutation_p.R209Q	NM_001144831.1	NP_001138303.1			prohibitin 2											ovary(2)|pancreas(1)	3						GAATTGGGCCCGCTGGGCCTC	0.592																																						ENST00000535923.1	0.990000	0.540000	0.880000	0.640000	0.750000	0.761452	0.750000	0.750000																										0				3						c.(625-627)cGg>cAg		prohibitin 2		C	GLN/ARG,GLN/ARG	0,3820		0,0,1910	108.0	117.0	114.0		626,626	4.6	1.0	12		114	1,8245		0,1,4122	no	missense,missense	PHB2	NM_001144831.1,NM_007273.3	43,43	0,1,6032	TT,TC,CC		0.0121,0.0,0.0083	possibly-damaging,possibly-damaging	209/300,209/300	7076924	1,12065	1910	4123	6033	SO:0001583	missense	11331	3	120872	41				g.chr12:7076924C>T	AF126021	CCDS53741.1, CCDS58207.1	12p13	2013-03-11			ENSG00000215021	ENSG00000215021			30306	protein-coding gene	gene with protein product		610704				11302691, 9259555	Standard	NM_001144831		Approved	REA, BCAP37, Bap37, p22	uc021quf.1	Q99623	OTTHUMG00000168519	ENST00000535923.1:c.626G>A	chr12.hg19:g.7076924C>T	ENSP00000441875:p.Arg209Gln	0					PHB2_ENST00000399433.2_Missense_Mutation_p.R209Q|PHB2_ENST00000544134.1_5'Flank|PHB2_ENST00000546111.1_Intron|SCARNA12_ENST00000459155.1_RNA|PHB2_ENST00000440277.1_Intron|PHB2_ENST00000542912.1_Missense_Mutation_p.R209Q|U47924.29_ENST00000606539.1_RNA	p.R209Q	NM_001144831.1	NP_001138303.1	0	0	0	1.942840				6	907	-				Missense_Mutation	SNP	ENST00000535923.1	1	0	hg19	c.626G>A	CCDS53741.1	0	.	.	.	.	.	.	.	.	.	.	C	35	5.472233	0.96274	0.0	1.21E-4	ENSG00000215021	ENST00000535923;ENST00000542912;ENST00000399433;ENST00000545167	.	.	.	4.6	4.6	0.57074	4.600000	4.600000	0.570740	.	0.000000	0.64402	U	0.000002	D	0.82440	0.5037	M	0.90814	3.15	0.80722	D	1	P	0.50443	0.935	P	0.55965	0.788	D	0.87103	0.2180	9	0.87932	D	0	-15.6752	17.6167	0.88069	0.0:1.0:0.0:0.0	.	209	Q99623	PHB2_HUMAN	Q	209;209;209;245	.	ENSP00000382362:R209Q	R	-	2	0	0	PHB2	6947185	6947185	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.617000	0.83032	2.389000	0.81357	0.655000	0.94253	CGG	0.056897		TCGA-HZ-8519-01A-11D-2396-08	0.592	PHB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400040.3	0	0	0	2	2	2	2	0	0	0	0	238	238	238	236	1	2.020000	-2.424337	0	0.090000	NM_007273		0	39	39	0	1066	1047	1		1	1		0	0	238	0	0	1.000000	1	0	114	0	823	0	39	1066
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000256078.4	1.000000	0.480000	1.000000	0.790000	0.990000	0.927638	0.990000	1.000000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes			Dom	yes		12	12p12.1	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog				"""L, E, M, O"""	L, E, M, O			pancreatic, colorectal, lung, thyroid, AML, others	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	2	121404	44	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	chr12.hg19:g.25398284C>T	ENSP00000256078:p.Gly12Asp	0	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	p.G12D	NM_033360.2	NP_203524.1	1	2	3	2.008547	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)	2	98	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4			hg19	c.35G>A	CCDS8703.1	1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	5.680000	5.680000	0.881260	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	0	KRAS	25289551	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	0.098519		TCGA-HZ-8519-01A-11D-2396-08	0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1		0	1	2	2	2	2	0	0	0	0	18	18	18	18	1	2.020000	-4.444013	1	0.090000	NM_033360		208	5	5	7817	92	91		1	1	1	1	0	0	18	358	1	0.937536	5.926294e-01	9.999648e-01	6	7	29	613	5	92
DENND5B	160518	broad.mit.edu	37	12	31613289	31613289	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr12:31613289C>T	ENST00000389082.5	-	4	1195	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K	DENND5B_ENST00000354285.4_Missense_Mutation_p.E333K|DENND5B_ENST00000306833.6_Missense_Mutation_p.E346K|DENND5B_ENST00000545147.1_5'UTR|DENND5B_ENST00000536562.1_Missense_Mutation_p.E346K	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	311	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GTGATGCCTTCTGCCACAGTC	0.418																																						ENST00000389082.5	1.000000	0.480000	1.000000	0.690000	0.970000	0.878919	0.970000	1.000000																										0				38						c.(931-933)Gaa>Aaa		DENN/MADD domain containing 5B							87.0	85.0	85.0					12																	31613289		1976	4153	6129	SO:0001583	missense	160518	0	0					g.chr12:31613289C>T	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.931G>A	chr12.hg19:g.31613289C>T	ENSP00000373734:p.Glu311Lys	0					DENND5B_ENST00000536562.1_Missense_Mutation_p.E346K|DENND5B_ENST00000354285.4_Missense_Mutation_p.E333K|DENND5B_ENST00000306833.6_Missense_Mutation_p.E346K|DENND5B_ENST00000545147.1_5'UTR	p.E311K	NM_144973.3	NP_659410.3	1	2	3	2.008547	Q6ZUT9	DEN5B_HUMAN		4	1195	-			B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	ENST00000389082.5	1	0	hg19	c.931G>A	CCDS44857.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.360292	0.95877	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562;ENST00000354285;ENST00000546299	T;T;T;T;T	0.12774	2.65;2.65;2.65;2.65;2.65	4.65	4.65	0.58169	4.650000	4.650000	0.581690	DENN (3);	0.000000	0.64402	D	0.000001	T	0.40743	0.1129	M	0.79011	2.435	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	T	0.37314	-0.9711	10	0.72032	D	0.01	-25.197	18.0731	0.89417	0.0:1.0:0.0:0.0	.	346;233;333;311;346	Q6ZUT9-2;Q6ZUT9-3;Q6ZUT9-4;Q6ZUT9;G3V1S3	.;.;.;DEN5B_HUMAN;.	K	311;346;346;333;263	ENSP00000373734:E311K;ENSP00000306482:E346K;ENSP00000444889:E346K;ENSP00000346238:E333K;ENSP00000442938:E263K	ENSP00000306482:E346K	E	-	1	0	0	DENND5B	31504556	31504556	1.000000	0.71417	0.960000	0.40013	0.968000	0.65278	7.410000	0.80065	2.569000	0.86673	0.655000	0.94253	GAA	0.098519		TCGA-HZ-8519-01A-11D-2396-08	0.418	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	1	0	0	2	2	2	2	0	0	0	0	32	32	32	32	1	2.020000	-3.208049	1	0.090000	NM_144973		0	10	9	0	241	239	0		1	1		0	0	32	0	0	0.996860	2.943335e-01	0	2	0	23	0	10	241
RNF10	9921	broad.mit.edu	37	12	120984337	120984337	+	Missense_Mutation	SNP	C	C	T	rs201217014		TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr12:120984337C>T	ENST00000325954.4	+	2	748	c.287C>T	c.(286-288)cCt>cTt	p.P96L	RNF10_ENST00000413266.2_Missense_Mutation_p.P96L	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	96	Ser-rich.				negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AACAAGATGCCTCCTCAAAGG	0.433																																						ENST00000325954.4	1.000000	0.460000	1.000000	0.600000	0.780000	0.788991	0.780000	1.000000																										0				27						c.(286-288)cCt>cTt		ring finger protein 10							80.0	82.0	81.0					12																	120984337		2203	4300	6503	SO:0001583	missense	9921	5	121412	41				g.chr12:120984337C>T	AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"""RING-type (C3HC4) zinc fingers"""	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.287C>T	chr12.hg19:g.120984337C>T	ENSP00000322242:p.Pro96Leu	0					RNF10_ENST00000413266.2_Missense_Mutation_p.P96L	p.P96L	NM_014868.4	NP_055683.3	1	2	3	2.008547	Q8N5U6	RNF10_HUMAN		2	748	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		Q92550|Q9NPP8|Q9ULW4	Missense_Mutation	SNP	ENST00000325954.4	1	0	hg19	c.287C>T	CCDS9201.1	0	.	.	.	.	.	.	.	.	.	.	C	29.8	5.037389	0.93630	.	.	ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000413266;ENST00000537997	D;D	0.90261	-2.63;-2.64	5.03	5.03	0.67393	5.030000	5.030000	0.673930	.	0.052596	0.85682	D	0.000000	D	0.95348	0.8490	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.95468	0.8549	10	0.59425	D	0.04	.	18.7237	0.91705	0.0:1.0:0.0:0.0	.	96;96	Q8N5U6-2;Q8N5U6	.;RNF10_HUMAN	L	96;96;96;46	ENSP00000322242:P96L;ENSP00000415682:P96L	ENSP00000322242:P96L	P	+	2	0	0	RNF10	119468720	119468720	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.158000	0.77470	2.479000	0.83701	0.655000	0.94253	CCT	0.098519		TCGA-HZ-8519-01A-11D-2396-08	0.433	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4	0	0	0	2	2	2	2	0	0	0	0	98	98	98	96	1	2.020000	-3.229682	1	0.090000			0	18	18	0	533	529	1		1	1		0	0	98	0	0	0.999981	9.993171e-01	0	42	0	307	0	18	533
TBC1D4	9882	broad.mit.edu	37	13	75884223	75884223	+	Silent	SNP	C	C	T			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr13:75884223C>T	ENST00000377636.3	-	14	2794	c.2448G>A	c.(2446-2448)ccG>ccA	p.P816P	TBC1D4_ENST00000425511.1_Silent_p.P33P|TBC1D4_ENST00000431480.2_Silent_p.P808P|TBC1D4_ENST00000377625.2_Silent_p.P753P	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	816					cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		ATACAACCAGCGGTTCCTCCT	0.493																																						ENST00000377636.3	1.000000	0.990000	1.000000	0.990000	0.990000	0.999831	0.990000	1.000000																										0				50						c.(2446-2448)ccG>ccA		TBC1 domain family, member 4							77.0	70.0	72.0					13																	75884223		1869	4097	5966	SO:0001819	synonymous_variant	9882	2	120818	29				g.chr13:75884223C>T	AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.2448G>A	chr13.hg19:g.75884223C>T		0					TBC1D4_ENST00000377625.2_Silent_p.P753P|TBC1D4_ENST00000425511.1_Silent_p.P33P|TBC1D4_ENST00000431480.2_Silent_p.P808P	p.P816P	NM_014832.2	NP_055647.2	1	2	3	2.073066	O60343	TBCD4_HUMAN		14	2794	-		Prostate(6;0.014)|Breast(118;0.0982)	A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Silent	SNP	ENST00000377636.3	1	1	hg19	c.2448G>A	CCDS41901.1	1																																																																																								0.112758		TCGA-HZ-8519-01A-11D-2396-08	0.493	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	1	0	1	2	2	2	2	0	0	0	0	47	47	47	46	1	2.020000	-8.283467	1	0.090000	NM_014832		0	21	20	0	232	228	0		1	1		0	0	47	0	0	0.999998	9.695791e-01	0	3	0	63	0	21	232
TOX4	9878	broad.mit.edu	37	14	21963449	21963449	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr14:21963449C>T	ENST00000405508.1	+	9	1979	c.1703C>T	c.(1702-1704)cCc>cTc	p.P568L	TOX4_ENST00000448790.2_Missense_Mutation_p.P545L|TOX4_ENST00000262709.3_Missense_Mutation_p.P568L			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	568						chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		GCACTCTCACCCCAGCCTCGA	0.502																																						ENST00000405508.1	1.000000	0.470000	0.910000	0.590000	0.740000	0.754492	0.740000	1.000000																										0				18						c.(1702-1704)cCc>cTc		TOX high mobility group box family member 4							205.0	165.0	179.0					14																	21963449		2203	4300	6503	SO:0001583	missense	9878	1	121412	36				g.chr14:21963449C>T	AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"""chromosome 14 open reading frame 92"", ""KIAA0737"""	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.1703C>T	chr14.hg19:g.21963449C>T	ENSP00000385102:p.Pro568Leu	0					TOX4_ENST00000448790.2_Missense_Mutation_p.P545L|TOX4_ENST00000262709.3_Missense_Mutation_p.P568L	p.P568L			0	0	0	1.948329	O94842	TOX4_HUMAN	Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	9	1979	+	all_cancers(95;0.000465)		B4DPY8|B4DSM0|E7EV69	Missense_Mutation	SNP	ENST00000405508.1	1	0	hg19	c.1703C>T	CCDS32043.1	0	.	.	.	.	.	.	.	.	.	.	C	22.8	4.340897	0.81911	.	.	ENSG00000092203	ENST00000405508;ENST00000262709;ENST00000448790;ENST00000545559	T;T;T	0.14391	2.54;2.54;2.51	5.57	5.57	0.84162	5.570000	5.570000	0.841620	.	0.166361	0.40302	N	0.001131	T	0.21347	0.0514	L	0.49126	1.545	0.80722	D	1	P;P	0.51791	0.948;0.948	P;P	0.46362	0.514;0.514	T	0.00282	-1.1850	10	0.72032	D	0.01	.	18.6982	0.91610	0.0:1.0:0.0:0.0	.	545;568	B4DPY8;O94842	.;TOX4_HUMAN	L	568;568;545;496	ENSP00000385102:P568L;ENSP00000262709:P568L;ENSP00000393080:P545L	ENSP00000262709:P568L	P	+	2	0	0	TOX4	21033289	21033289	0.991000	0.36638	1.000000	0.80357	0.996000	0.88848	3.079000	0.50104	2.770000	0.95276	0.650000	0.86243	CCC	0.060403		TCGA-HZ-8519-01A-11D-2396-08	0.502	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	0	0	0	2	2	2	2	0	0	0	0	113	113	113	111	1	2.020000	-2.791186	1	0.090000	NM_014828		0	20	20	0	555	546	1		1	1		0	0	113	0	0	0.999995	9.520537e-01	0	16	0	126	0	20	555
HMOX2	3163	broad.mit.edu	37	16	4557846	4557846	+	Missense_Mutation	SNP	A	A	T	rs150288371		TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08			A	T	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr16:4557846A>T	ENST00000570646.1	+	4	942	c.337A>T	c.(337-339)Atg>Ttg	p.M113L	HMOX2_ENST00000219700.6_Missense_Mutation_p.M113L|HMOX2_ENST00000406590.2_Missense_Mutation_p.M113L|HMOX2_ENST00000458134.3_Missense_Mutation_p.M113L|HMOX2_ENST00000414777.1_Missense_Mutation_p.M113L|HMOX2_ENST00000575120.1_Missense_Mutation_p.M84L|HMOX2_ENST00000398595.3_Missense_Mutation_p.M113L	NM_002134.3	NP_002125.3	P30519	HMOX2_HUMAN	heme oxygenase (decycling) 2	113					cellular iron ion homeostasis (GO:0006879)|heme catabolic process (GO:0042167)|heme oxidation (GO:0006788)|porphyrin-containing compound metabolic process (GO:0006778)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heme oxygenase (decyclizing) activity (GO:0004392)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8						GACCAAGGACATGGAGTATTT	0.577													A|||	1	0.000199681	0.0	0.0	5008	,	,		20550	0.0		0.001	False		,,,				2504	0.0					ENST00000570646.1	1.000000	0.520000	1.000000	0.720000	0.990000	0.894511	0.990000	1.000000																										0				8						c.(337-339)Atg>Ttg		heme oxygenase (decycling) 2		A	LEU/MET,LEU/MET,LEU/MET,LEU/MET	2,4392	4.2+/-10.8	0,2,2195	75.0	65.0	68.0		337,337,337,337	4.5	1.0	16	dbSNP_134	68	19,8581	14.0+/-48.4	0,19,4281	yes	missense,missense,missense,missense	HMOX2	NM_001127204.1,NM_001127205.1,NM_001127206.1,NM_002134.3	15,15,15,15	0,21,6476	TT,TA,AA		0.2209,0.0455,0.1616	benign,benign,benign,benign	113/317,113/317,113/317,113/317	4557846	21,12973	2197	4300	6497	SO:0001583	missense	3163	130	121412	52				g.chr16:4557846A>T		CCDS10517.1, CCDS66931.1, CCDS73818.1	16p13.3	2008-02-05			ENSG00000103415	ENSG00000103415	1.14.99.3		5014	protein-coding gene	gene with protein product		141251				1575508	Standard	NM_002134		Approved	HO-2	uc002cwq.4	P30519	OTTHUMG00000129473	ENST00000570646.1:c.337A>T	chr16.hg19:g.4557846A>T	ENSP00000459214:p.Met113Leu	0					HMOX2_ENST00000458134.3_Missense_Mutation_p.M113L|HMOX2_ENST00000406590.2_Missense_Mutation_p.M113L|HMOX2_ENST00000414777.1_Missense_Mutation_p.M113L|HMOX2_ENST00000575120.1_Missense_Mutation_p.M84L|HMOX2_ENST00000219700.6_Missense_Mutation_p.M113L|HMOX2_ENST00000398595.3_Missense_Mutation_p.M113L	p.M113L	NM_002134.3	NP_002125.3	1	2	3	2.025791	P30519	HMOX2_HUMAN		4	942	+			A8MT35|D3DUD5|I3L430|O60605	Missense_Mutation	SNP	ENST00000570646.1	1	0	hg19	c.337A>T	CCDS10517.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	2.895	-0.228848	0.06022	4.55E-4	0.002209	ENSG00000103415	ENST00000406590;ENST00000458134;ENST00000219700;ENST00000414777;ENST00000398595	T;T;T;T;T	0.06218	3.33;3.33;3.33;3.33;3.33	5.62	4.51	0.55191	5.620000	4.510000	0.551910	Haem oxygenase-like, multi-helical (2);	0.087753	0.85682	N	0.000000	T	0.02012	0.0063	N	0.01009	-1.055	0.47862	D	0.999538	B;B	0.15473	0.013;0.013	B;B	0.17722	0.019;0.019	T	0.38564	-0.9655	10	0.02654	T	1	-17.4982	11.3034	0.49320	0.5809:0.4191:0.0:0.0	.	113;113	B3KSE0;P30519	.;HMOX2_HUMAN	L	113	ENSP00000385100:M113L;ENSP00000394103:M113L;ENSP00000219700:M113L;ENSP00000391637:M113L;ENSP00000381595:M113L	ENSP00000219700:M113L	M	+	1	0	0	HMOX2	4497847	4497847	1.000000	0.71417	1.000000	0.80357	0.676000	0.39594	2.361000	0.44160	0.942000	0.37525	-0.466000	0.05196	ATG	0.102520		TCGA-HZ-8519-01A-11D-2396-08	0.577	HMOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251636.2	1	0	0	2	2	2	2	0	0	0	0	73	73	73	72	1	2.020000	-13.449220	1	0.090000			0	12	12	0	287	280	0		1	0		0	0	73	0	0	0.999037	9.999204e-01	0	0	0	424	0	12	287
GRIN2A	2903	broad.mit.edu	37	16	10274206	10274206	+	Silent	SNP	C	C	T			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr16:10274206C>T	ENST00000396573.2	-	3	372	c.63G>A	c.(61-63)ccG>ccA	p.P21P	GRIN2A_ENST00000396575.2_Silent_p.P21P|GRIN2A_ENST00000562109.1_Silent_p.P21P|GRIN2A_ENST00000330684.3_Silent_p.P21P|GRIN2A_ENST00000404927.2_Silent_p.P21P	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	21					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CGCTCGGCGCCGGACCGCGCC	0.647																																						ENST00000396573.2	1.000000	0.930000	1.000000	0.990000	0.990000	0.995782	0.990000	1.000000																										0				198						c.(61-63)ccG>ccA		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)						16.0	20.0	19.0					16																	10274206		2189	4283	6472	SO:0001819	synonymous_variant	2903	0	0					g.chr16:10274206C>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.63G>A	chr16.hg19:g.10274206C>T		0					GRIN2A_ENST00000396575.2_Silent_p.P21P|GRIN2A_ENST00000330684.3_Silent_p.P21P|GRIN2A_ENST00000404927.2_Silent_p.P21P|GRIN2A_ENST00000562109.1_Silent_p.P21P	p.P21P	NM_000833.3	NP_000824.1	1	2	3	2.025791	Q12879	NMDE1_HUMAN		3	372	-			O00669|Q17RZ6	Silent	SNP	ENST00000396573.2	1	1	hg19	c.63G>A	CCDS10539.1	1																																																																																								0.102520		TCGA-HZ-8519-01A-11D-2396-08	0.647	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3	1	0	1	2	2	2	2	0	0	0	0	50	50	50	49	1	2.020000	-19.781370	1	0.090000			0	16	16	0	221	218	0		1			0	0	50	0	0	0.999938	0	0	0	0	0	0	16	221
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr17:7578394T>C	ENST00000269305.4	-	5	725	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000420246.2_Missense_Mutation_p.H179R	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	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; 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.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(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)	GCAGCGCTCATGGTGGGGGCA	0.642		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)	ENST00000269305.4	1.000000	0.550000	1.000000	0.730000	0.930000	0.886456	0.930000	1.000000		111	yes	Rec	yes	Li-Fraumeni syndrome	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	17p13	7157	Mis, N, F	tumor protein p53				"""L, E, M, O"""	L, E, M, O		breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types	breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types		217	Substitution - Missense(166)|Deletion - In frame(24)|Deletion - Frameshift(18)|Whole gene deletion(8)|Complex - deletion inframe(1)	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)	lung(35)|breast(32)|large_intestine(29)|upper_aerodigestive_tract(26)|oesophagus(21)|ovary(21)|central_nervous_system(16)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(6)|pancreas(6)|liver(5)|bone(4)|biliary_tract(3)|cervix(1)|stomach(1)|endometrium(1)|salivary_gland(1)|skin(1)	24185						c.(535-537)cAt>cGt	Other conserved DNA damage response genes	tumor protein p53	Acetylsalicylic acid(DB00945)						47.0	47.0	47.0					17																	7578394		2203	4300	6503	SO:0001583	missense	7157	0	0		Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	g.chr17:7578394T>C	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.536A>G	chr17.hg19:g.7578394T>C	ENSP00000269305:p.His179Arg	0	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)				TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000420246.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R	p.H179R	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	0	0	0	1.944179	P04637	P53_HUMAN		5	725	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	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	1	0	hg19	c.536A>G	CCDS11118.1	1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.694391	0.88830	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.47	5.47	0.80525	5.470000	5.470000	0.805250	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99917	0.9961	M	0.92507	3.315	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.989;1.0;0.985;1.0;0.995;1.0;0.996	D;D;D;D;D;D;D	0.97110	0.929;0.996;0.912;1.0;0.985;0.995;0.937	D	0.95874	0.8893	10	0.87932	D	0	-15.4889	13.8032	0.63214	0.0:0.0:0.0:1.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179R;ENSP00000352610:H179R;ENSP00000269305:H179R;ENSP00000398846:H179R;ENSP00000391127:H179R;ENSP00000391478:H179R;ENSP00000425104:H47R;ENSP00000423862:H86R	ENSP00000269305:H179R	H	-	2	0	0	TP53	7519119	7519119	1.000000	0.71417	0.945000	0.38365	0.856000	0.48823	6.263000	0.72521	2.208000	0.71279	0.460000	0.39030	CAT	0.057776		TCGA-HZ-8519-01A-11D-2396-08	0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1	2	2	2	2	0	0	0	0	68	68	68	66	1	2.020000	-16.029150	1	0.090000	NM_000546		0	14	14	0	286	285	1		1	1	1	0	0	68	784	0	0.999767	9.289675e-01	1	47	41	48	1173	14	286
PCYT2	5833	broad.mit.edu	37	17	79866486	79866486	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr17:79866486C>T	ENST00000538936.2	-	4	473	c.365G>A	c.(364-366)gGc>gAc	p.G122D	PCYT2_ENST00000570388.1_Missense_Mutation_p.G44D|PCYT2_ENST00000571105.1_Missense_Mutation_p.G122D|PCYT2_ENST00000570391.1_Missense_Mutation_p.G90D|PCYT2_ENST00000331285.3_Missense_Mutation_p.G44D|PCYT2_ENST00000538721.2_Missense_Mutation_p.G122D	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	122					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)	ethanolamine-phosphate cytidylyltransferase activity (GO:0004306)			breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		Lamivudine(DB00709)	GGTGTCCCGGCCATCTACAGT	0.597																																						ENST00000538936.2	1.000000	0.900000	1.000000	0.990000	0.990000	0.994424	0.990000	1.000000																										0				8						c.(364-366)gGc>gAc		phosphate cytidylyltransferase 2, ethanolamine	Lamivudine(DB00709)						117.0	98.0	105.0					17																	79866486		2202	4300	6502	SO:0001583	missense	5833	0	0					g.chr17:79866486C>T	D84307	CCDS11791.1, CCDS54178.1, CCDS58610.1, CCDS62364.1	17q25.3	2008-07-18				ENSG00000185813			8756	protein-coding gene	gene with protein product		602679				9083101	Standard	XM_005256386		Approved	ET	uc002kch.2	Q99447		ENST00000538936.2:c.365G>A	chr17.hg19:g.79866486C>T	ENSP00000439245:p.Gly122Asp	0					PCYT2_ENST00000570391.1_Missense_Mutation_p.G90D|PCYT2_ENST00000538721.2_Missense_Mutation_p.G122D|PCYT2_ENST00000570388.1_Missense_Mutation_p.G44D|PCYT2_ENST00000571105.1_Missense_Mutation_p.G122D|PCYT2_ENST00000331285.3_Missense_Mutation_p.G44D	p.G122D	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	1	2	3	2.007292	Q99447	PCY2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)	4	473	-	all_neural(118;0.0878)|Ovarian(332;0.12)		B7Z7A5|B7ZAS0|F5H8B1|Q6IBM3|Q96G08	Missense_Mutation	SNP	ENST00000538936.2	1	1	hg19	c.365G>A	CCDS11791.1	1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.925191	0.92319	.	.	ENSG00000185813	ENST00000538721;ENST00000538936;ENST00000331285	D;D	0.96396	-4.0;-4.0	4.61	4.61	0.57282	4.610000	4.610000	0.572820	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.98604	0.9533	M	0.93594	3.435	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0	D	0.99780	1.1027	10	0.87932	D	0	-34.8642	17.6458	0.88148	0.0:1.0:0.0:0.0	.	90;90;122;44;122	B7Z4W6;B7ZAS0;F5H8B1;B7Z7A5;Q99447	.;.;.;.;PCY2_HUMAN	D	122;122;44	ENSP00000442050:G122D;ENSP00000439245:G122D	ENSP00000331719:G44D	G	-	2	0	0	PCYT2	77459778	77459778	1.000000	0.71417	0.997000	0.53966	0.841000	0.47740	5.058000	0.64300	2.380000	0.81148	0.650000	0.86243	GGC	0.098519		TCGA-HZ-8519-01A-11D-2396-08	0.597	PCYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439939.1	1	0	1	2	2	2	2	0	0	0	0	45	45	45	45	1	2.020000	-3.319452	1	0.090000	NM_002861		0	13	13	0	171	170	1		1	1		0	0	45	0	0	0.999579	9.959139e-01	0	26	0	99	0	13	171
CNN2	1265	broad.mit.edu	37	19	1032666	1032666	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr19:1032666C>A	ENST00000263097.4	+	4	724	c.361C>A	c.(361-363)Cag>Aag	p.Q121K	CNN2_ENST00000565096.2_Intron|CNN2_ENST00000348419.3_Missense_Mutation_p.Q121K|CNN2_ENST00000562958.2_Missense_Mutation_p.Q121K|CNN2_ENST00000606983.1_3'UTR	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	121	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actomyosin structure organization (GO:0031032)|cellular response to mechanical stimulus (GO:0071260)|cytoskeleton organization (GO:0007010)|hemopoiesis (GO:0030097)|negative regulation of cell migration (GO:0030336)|negative regulation of phagocytosis (GO:0050765)|positive regulation of gene expression (GO:0010628)|regulation of actin filament-based process (GO:0032970)|regulation of cell proliferation (GO:0042127)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|stress fiber (GO:0001725)	actin binding (GO:0003779)			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACgcaggtgcaggtgtctct	0.597																																						ENST00000263097.4	1.000000	0.380000	1.000000	0.580000	0.840000	0.807870	0.840000	1.000000																										0				10						c.(361-363)Cag>Aag		calponin 2							41.0	34.0	37.0					19																	1032666		2203	4299	6502	SO:0001583	missense	1265	0	0					g.chr19:1032666C>A	D83735	CCDS12053.1, CCDS12054.1	19p13.3	2011-02-18			ENSG00000064666	ENSG00000064666			2156	protein-coding gene	gene with protein product		602373				8889829	Standard	NM_004368		Approved		uc002lqu.3	Q99439		ENST00000263097.4:c.361C>A	chr19.hg19:g.1032666C>A	ENSP00000263097:p.Gln121Lys	0					CNN2_ENST00000348419.3_Missense_Mutation_p.Q121K|CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000562958.2_Missense_Mutation_p.Q121K|CNN2_ENST00000565096.2_Intron	p.Q121K	NM_004368.2	NP_004359.1	0	1	1	1.982031	Q99439	CNN2_HUMAN		4	724	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	A5D8U8|A6NFI4|D6W5X9|Q92578	Missense_Mutation	SNP	ENST00000263097.4	1	0	hg19	c.361C>A	CCDS12053.1	0	.	.	.	.	.	.	.	.	.	.	C	19.17	3.775353	0.70107	.	.	ENSG00000064666	ENST00000263097;ENST00000348419;ENST00000442531	D;T	0.94966	-3.57;0.28	4.05	4.05	0.47172	4.050000	4.050000	0.471720	Calponin homology domain (5);	0.000000	0.64402	U	0.000001	D	0.97077	0.9045	M	0.86178	2.8	0.47441	D	0.999423	B;D;P;D	0.76494	0.132;0.971;0.933;0.999	P;D;P;D	0.77557	0.475;0.913;0.852;0.99	D	0.97314	0.9939	10	0.54805	T	0.06	.	13.759	0.62954	0.0:1.0:0.0:0.0	.	121;121;121;121	B4DUT8;A6NFI4;Q99439;Q6FHE4	.;.;CNN2_HUMAN;.	K	121;121;100	ENSP00000263097:Q121K;ENSP00000340129:Q121K	ENSP00000263097:Q121K	Q	+	1	0	0	CNN2	983666	983666	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	7.177000	0.77650	1.827000	0.53221	0.306000	0.20318	CAG	0.080065		TCGA-HZ-8519-01A-11D-2396-08	0.597	CNN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420293.3	1	0	0	2	2	2	2	0	0	0	0	41	41	41	40	1	2.020000	-9.545517	1	0.090000	NM_004368		0	7	7	0	178	176	0		1	1		0	0	41	0	0	0.980477	9.994875e-01	0	33	0	379	0	7	178
ARHGEF10L	55160	broad.mit.edu	37	1	18023723	18023723	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr1:18023723G>A	ENST00000361221.3	+	29	3847	c.3688G>A	c.(3688-3690)Gcc>Acc	p.A1230T	ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.A1191T|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.A933T|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.A1191T|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.A1003T	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1230						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CGCCCGCGACGCCCACCGCAA	0.677																																						ENST00000361221.3	1.000000	0.710000	1.000000	0.890000	0.990000	0.961954	0.990000	1.000000																										0				43						c.(3688-3690)Gcc>Acc		Rho guanine nucleotide exchange factor (GEF) 10-like							24.0	25.0	25.0					1																	18023723		2189	4258	6447	SO:0001583	missense	55160	18	120560	43				g.chr1:18023723G>A	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.3688G>A	chr1.hg19:g.18023723G>A	ENSP00000355060:p.Ala1230Thr	0					ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.A933T|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.A1191T|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.A1003T|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.A1191T	p.A1230T	NM_018125.3	NP_060595	0	0	0	1.947673	Q9HCE6	ARGAL_HUMAN		29	3847	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	ENST00000361221.3	1	1	hg19	c.3688G>A	CCDS182.1	1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293646	0.80914	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000375415;ENST00000375408;ENST00000167825	T;T;T;T;T	0.61510	0.35;0.39;0.39;0.1;2.37	5.0	3.13	0.36017	5.000000	3.130000	0.360170	.	0.166885	0.39544	N	0.001340	T	0.64929	0.2643	L	0.52364	1.645	0.39278	D	0.964508	P;D;P;D;D;D	0.89917	0.669;0.979;0.669;0.999;1.0;1.0	B;B;B;P;D;D	0.71870	0.115;0.389;0.115;0.847;0.975;0.961	T	0.61898	-0.6968	10	0.33141	T	0.24	-14.259	8.6006	0.33742	0.1809:0.0:0.8191:0.0	.	1003;933;991;1186;1191;1230	Q5VXI4;Q9HCE6-4;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;ARGAL_HUMAN	T	1230;1191;1191;1003;933	ENSP00000355060:A1230T;ENSP00000399401:A1191T;ENSP00000364564:A1191T;ENSP00000364557:A1003T;ENSP00000167825:A933T	ENSP00000167825:A933T	A	+	1	0	0	ARHGEF10L	17896310	17896310	0.538000	0.26394	0.984000	0.44739	0.967000	0.64934	1.279000	0.33191	0.507000	0.28148	-0.136000	0.14681	GCC	0.059529		TCGA-HZ-8519-01A-11D-2396-08	0.677	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	1	0	1	2	2	2	2	0	0	0	0	64	64	64	62	1	2.020000	-3.320048	1	0.090000	NM_018125		0	16	16	0	247	244	1		1	1		0	0	64	0	0	0.999935	9.962447e-01	0	37	0	107	0	16	247
TMEM57	55219	broad.mit.edu	37	1	25785272	25785272	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr1:25785272G>T	ENST00000374343.4	+	6	1222	c.1043G>T	c.(1042-1044)aGt>aTt	p.S348I	TMEM57_ENST00000399766.3_Intron|TMEM57_ENST00000399763.3_Intron|TMEM57_ENST00000470035.1_3'UTR	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	348					brain development (GO:0007420)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|synapse (GO:0045202)				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		TCCTCATCTAGTAAAAATGAG	0.418																																						ENST00000374343.4	1.000000	0.590000	1.000000	0.710000	0.860000	0.858412	0.860000	1.000000																										0				27						c.(1042-1044)aGt>aTt		transmembrane protein 57							128.0	128.0	128.0					1																	25785272		2203	4300	6503	SO:0001583	missense	55219	0	0					g.chr1:25785272G>T	AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178			25572	protein-coding gene	gene with protein product		610301				12459264, 15255972	Standard	XM_005245931		Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.1043G>T	chr1.hg19:g.25785272G>T	ENSP00000363463:p.Ser348Ile	0					TMEM57_ENST00000470035.1_3'UTR|TMEM57_ENST00000399763.3_Intron|TMEM57_ENST00000399766.3_Intron	p.S348I	NM_018202.4	NP_060672.2	0	0	0	1.949978	Q8N5G2	MACOI_HUMAN		6	1222	+		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)	B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Missense_Mutation	SNP	ENST00000374343.4	1	0	hg19	c.1043G>T	CCDS30638.1	1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.978567	0.34942	.	.	ENSG00000204178	ENST00000374343	T	0.14144	2.53	5.78	5.78	0.91487	5.780000	5.780000	0.914870	.	0.355028	0.36665	N	0.002474	T	0.16557	0.0398	L	0.57536	1.79	0.80722	D	1	B	0.24043	0.096	B	0.21546	0.035	T	0.01508	-1.1337	10	0.37606	T	0.19	-4.0307	13.8878	0.63719	0.0:0.253:0.747:0.0	.	348	Q8N5G2	MACOI_HUMAN	I	348	ENSP00000363463:S348I	ENSP00000363463:S348I	S	+	2	0	0	TMEM57	25657859	25657859	0.998000	0.40836	0.996000	0.52242	0.988000	0.76386	3.390000	0.52523	2.724000	0.93272	0.563000	0.77884	AGT	0.060403		TCGA-HZ-8519-01A-11D-2396-08	0.418	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009659.2	1	0	0	2	2	2	2	0	0	0	0	113	113	113	110	1	2.020000	-4.176020	1	0.090000	NM_018202		0	28	27	0	661	651	1		1	1		0	0	113	0	0	1.000000	8.613253e-01	0	14	0	70	0	28	661
ADAMTS4	9507	broad.mit.edu	37	1	161166457	161166457	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr1:161166457G>A	ENST00000367996.5	-	2	1275	c.847C>T	c.(847-849)Ccc>Tcc	p.P283S	ADAMTS4_ENST00000478394.1_5'Flank|NDUFS2_ENST00000367993.3_5'Flank|ADAMTS4_ENST00000367995.3_Missense_Mutation_p.P283S	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	283	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	GCAGCACTGGGCCCCACTTGG	0.632																																						ENST00000367996.5	1.000000	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				43						c.(847-849)Ccc>Tcc		ADAM metallopeptidase with thrombospondin type 1 motif, 4	Tinzaparin(DB06822)						65.0	72.0	70.0					1																	161166457		2203	4300	6503	SO:0001583	missense	9507	0	0					g.chr1:161166457G>A	AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	220	protein-coding gene	gene with protein product		603876	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"""			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.847C>T	chr1.hg19:g.161166457G>A	ENSP00000356975:p.Pro283Ser	1					NDUFS2_ENST00000367993.3_5'Flank|ADAMTS4_ENST00000478394.1_5'Flank|ADAMTS4_ENST00000367995.3_Missense_Mutation_p.P283S	p.P283S	NM_005099.4	NP_005090.3	2	2	4	2.122515	O75173	ATS4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)	2	1275	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Missense_Mutation	SNP	ENST00000367996.5	1	1	hg19	c.847C>T	CCDS1223.1	1	.	.	.	.	.	.	.	.	.	.	G	1.536	-0.543024	0.04053	.	.	ENSG00000158859	ENST00000367996;ENST00000367995	D;D	0.85556	-2.0;-2.0	5.02	4.1	0.47936	5.020000	4.100000	0.479360	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.197780	0.34932	N	0.003569	T	0.53674	0.1811	N	0.11789	0.175	0.39026	D	0.959836	B;B	0.17667	0.014;0.023	B;B	0.16722	0.005;0.016	T	0.50988	-0.8762	10	0.17369	T	0.5	.	9.3761	0.38283	0.1728:0.0:0.8272:0.0	.	283;283	Q5VTW1;O75173	.;ATS4_HUMAN	S	283	ENSP00000356975:P283S;ENSP00000356974:P283S	ENSP00000356974:P283S	P	-	1	0	0	ADAMTS4	159433081	159433081	0.000000	0.05858	0.959000	0.39883	0.998000	0.95712	-0.310000	0.08135	1.350000	0.45770	0.555000	0.69702	CCC	0.148976		TCGA-HZ-8519-01A-11D-2396-08	0.632	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	1	0	1	2	2	2	2	0	0	0	0	116	116	116	114	1	2.020000	-20.000000	1	0.090000	NM_005099		0	47	46	0	519	510	0		1	0		0	0	116	0	0	1.000000	9.975126e-01	0	1	0	100	0	47	519
SPAG4	6676	broad.mit.edu	37	20	34204182	34204182	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr20:34204182A>G	ENST00000374273.3	+	1	369	c.257A>G	c.(256-258)aAc>aGc	p.N86S		NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	86					spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|motile cilium (GO:0031514)	structural molecule activity (GO:0005198)			NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			CGGAGCCACAACTGGCAGACA	0.736																																						ENST00000374273.3	1.000000	0.860000	1.000000	0.990000	0.990000	0.992001	0.990000	1.000000																										0				21						c.(256-258)aAc>aGc		sperm associated antigen 4							4.0	7.0	6.0					20																	34204182		1811	3791	5602	SO:0001583	missense	6676	0	0					g.chr20:34204182A>G	AF043344	CCDS13259.1	20q11.2	2010-04-23			ENSG00000061656	ENSG00000061656			11214	protein-coding gene	gene with protein product	"""acrosomal protein ACR55"", ""Sad1 and UNC84 domain containing 4"", ""cancer/testis antigen 127"""	603038				9691178, 10373309	Standard	NM_003116		Approved	SUN4, CT127	uc002xdb.1	Q9NPE6	OTTHUMG00000032352	ENST00000374273.3:c.257A>G	chr20.hg19:g.34204182A>G	ENSP00000363391:p.Asn86Ser	0						p.N86S	NM_003116.1	NP_003107.1	1	2	3	2.001811	Q9NPE6	SPAG4_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0127)	1	369	+	Lung NSC(9;0.0053)|all_lung(11;0.00785)		O43648	Missense_Mutation	SNP	ENST00000374273.3	0	1	hg19	c.257A>G	CCDS13259.1	1	.	.	.	.	.	.	.	.	.	.	A	12.20	1.867046	0.32977	.	.	ENSG00000061656	ENST00000374273	T	0.13778	2.56	4.62	-0.622	0.11560	4.620000	-0.622000	0.115600	.	0.444886	0.20171	N	0.097736	T	0.07548	0.0190	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.23048	-1.0199	10	0.49607	T	0.09	-15.5229	4.3605	0.11199	0.4206:0.3763:0.2031:0.0	.	86	Q9NPE6	SPAG4_HUMAN	S	86	ENSP00000363391:N86S	ENSP00000363391:N86S	N	+	2	0	0	SPAG4	33667596	33667596	0.094000	0.21725	0.452000	0.26994	0.806000	0.45545	0.219000	0.17641	0.001000	0.14605	0.459000	0.35465	AAC	0.096909		TCGA-HZ-8519-01A-11D-2396-08	0.736	SPAG4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078896.1	1	0	0	2	2	2	2	0	0	0	0	10	10	10	10	1	2.020000	-14.784420	1	0.090000	NM_003116		0	6	5	0	52	52	0		1	0		0	0	10	0	0	0.965901	1.530055e-02	0	0	0	2	0	6	52
CHD6	84181	broad.mit.edu	37	20	40127944	40127944	+	Silent	SNP	A	A	G			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr20:40127944A>G	ENST00000373233.3	-	6	1083	c.906T>C	c.(904-906)acT>acC	p.T302T	CHD6_ENST00000373222.3_Silent_p.T337T|CHD6_ENST00000309279.7_Silent_p.T302T	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	302	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.|Required for DNA-dependent ATPase activity.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CCTCCTGGACAGTCTTAGATG	0.398																																						ENST00000373233.3	1.000000	0.880000	1.000000	0.990000	0.990000	0.992983	0.990000	1.000000																										0				129						c.(904-906)acT>acC		chromodomain helicase DNA binding protein 6							79.0	66.0	71.0					20																	40127944		2203	4300	6503	SO:0001819	synonymous_variant	84181	0	0					g.chr20:40127944A>G	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.906T>C	chr20.hg19:g.40127944A>G		0					CHD6_ENST00000373222.3_Silent_p.T337T|CHD6_ENST00000309279.7_Silent_p.T302T	p.T302T	NM_032221.3	NP_115597.3	1	2	3	2.001811	Q8TD26	CHD6_HUMAN		6	1083	-		Myeloproliferative disorder(115;0.00425)	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	ENST00000373233.3	0	1	hg19	c.906T>C	CCDS13317.1	1	.	.	.	.	.	.	.	.	.	.	A	10.17	1.275613	0.23307	.	.	ENSG00000124177	ENST00000440697	.	.	.	4.44	-6.54	0.01860	4.440000	-6.540000	0.018600	.	.	.	.	.	T	0.46386	0.1390	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47711	-0.9096	4	.	.	.	-6.3713	6.0898	0.19989	0.1718:0.214:0.5181:0.0962	.	.	.	.	P	5	.	.	L	-	2	0	0	CHD6	39561358	39561358	0.465000	0.25815	0.861000	0.33841	0.991000	0.79684	-0.339000	0.07832	-1.366000	0.02155	0.459000	0.35465	CTG	0.096909		TCGA-HZ-8519-01A-11D-2396-08	0.398	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1	0	0	0	2	2	2	2	0	0	0	0	17	17	17	17	1	2.020000	-12.999840	1	0.090000			0	7	7	0	67	67	0		1	0		0	0	17	0	0	0.982377	8.715764e-01	0	1	0	37	0	7	67
TRIOBP	11078	broad.mit.edu	37	22	38120431	38120431	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr22:38120431A>T	ENST00000406386.3	+	7	2123	c.1868A>T	c.(1867-1869)aAc>aTc	p.N623I		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	623					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					ACACGAGATAACCCCAGAACA	0.587																																						ENST00000406386.3	1.000000	0.990000	1.000000	0.990000	0.990000	0.999761	0.990000	1.000000																										0				12						c.(1867-1869)aAc>aTc		TRIO and F-actin binding protein							124.0	139.0	134.0					22																	38120431		1943	4152	6095	SO:0001583	missense	11078	0	0					g.chr22:38120431A>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1868A>T	chr22.hg19:g.38120431A>T	ENSP00000384312:p.Asn623Ile	0						p.N623I	NM_001039141.2	NP_001034230.1	1	2	3	1.998530	Q9H2D6	TARA_HUMAN		7	2123	+	Melanoma(58;0.0574)		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	1	1	hg19	c.1868A>T	CCDS43015.1	1	.	.	.	.	.	.	.	.	.	.	A	9.134	1.012121	0.19277	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.20738	2.05	2.17	-0.564	0.11774	2.170000	-0.564000	0.117740	.	.	.	.	.	T	0.11922	0.0290	L	0.46157	1.445	0.09310	N	1	P	0.38565	0.637	B	0.23574	0.047	T	0.21211	-1.0252	9	0.56958	D	0.05	.	2.4349	0.04480	0.5132:0.2956:0.1911:0.0	.	623	Q9H2D6	TARA_HUMAN	I	623	ENSP00000384312:N623I	ENSP00000384312:N623I	N	+	2	0	0	TRIOBP	36450377	36450377	0.001000	0.12720	0.001000	0.08648	0.010000	0.07245	-2.334000	0.01107	0.103000	0.17682	0.254000	0.18369	AAC	0.096505		TCGA-HZ-8519-01A-11D-2396-08	0.587	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2	0	0	1	2	2	2	2	0	0	0	0	148	148	148	153	1	2.020000	-9.451049	1	0.090000			0	55	51	0	815	755	0		1	0		0	0	148	0	0	1.000000	0	0	0	0	1	0	55	815
ANKRD44	91526	broad.mit.edu	37	2	197954726	197954726	+	Silent	SNP	A	A	G			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr2:197954726A>G	ENST00000328737.2	-	11	1132	c.1056T>C	c.(1054-1056)caT>caC	p.H352H	ANKRD44_ENST00000450567.1_Silent_p.H352H|ANKRD44_ENST00000282272.8_Silent_p.H369H|ANKRD44_ENST00000539527.1_Silent_p.H305H|ANKRD44_ENST00000477852.1_5'Flank|ANKRD44_ENST00000337207.5_Silent_p.H352H|ANKRD44_ENST00000409153.1_Silent_p.H377H			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	377										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GGGCAGCTAAATGTAAAGGGA	0.433																																						ENST00000328737.2	1.000000	0.520000	1.000000	0.700000	0.940000	0.877652	0.940000	1.000000																										0				45						c.(1054-1056)caT>caC		ankyrin repeat domain 44							123.0	110.0	115.0					2																	197954726		2203	4300	6503	SO:0001819	synonymous_variant	91526	0	0					g.chr2:197954726A>G	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.1056T>C	chr2.hg19:g.197954726A>G		0					ANKRD44_ENST00000450567.1_Silent_p.H352H|ANKRD44_ENST00000337207.5_Silent_p.H352H|ANKRD44_ENST00000409153.1_Silent_p.H377H|ANKRD44_ENST00000477852.1_5'Flank|ANKRD44_ENST00000282272.8_Silent_p.H369H|ANKRD44_ENST00000539527.1_Silent_p.H305H	p.H352H			1	2	3	2.012613	Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)	11	1132	-			Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Silent	SNP	ENST00000328737.2	1	0	hg19	c.1056T>C		1																																																																																								0.099322		TCGA-HZ-8519-01A-11D-2396-08	0.433	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	1	0	0	2	2	2	2	0	0	0	0	81	81	81	81	1	2.020000	-4.203121	1	0.090000	NM_153697		0	14	14	0	346	346	0		1	0		0	0	81	0	0	0.999768	3.516644e-01	0	0	0	30	0	14	346
TET2	54790	broad.mit.edu	37	4	106155620	106155620	+	Missense_Mutation	SNP	C	C	A	rs146031219	byFrequency	TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr4:106155620C>A	ENST00000540549.1	+	3	1381	c.521C>A	c.(520-522)cCt>cAt	p.P174H	TET2_ENST00000513237.1_Missense_Mutation_p.P195H|TET2_ENST00000545826.1_Missense_Mutation_p.P174H|TET2_ENST00000380013.4_Missense_Mutation_p.P174H|TET2_ENST00000305737.2_Missense_Mutation_p.P174H|TET2_ENST00000394764.1_Missense_Mutation_p.P174H|TET2_ENST00000413648.2_Missense_Mutation_p.P174H			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	174			P -> H (in dbSNP:rs146031219). {ECO:0000269|PubMed:19420352}.		5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.P174fs*9(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TGCAGTGGGCCTGAAAATCCA	0.393			"""Mis N, F"""		MDS								C|||	5	0.000998403	0.0015	0.0	5008	,	,		21826	0.0		0.003	False		,,,				2504	0.0					ENST00000540549.1	1.000000	0.400000	1.000000	0.600000	0.860000	0.823615	0.860000	1.000000				Rec	yes			Rec	yes		4	4q24	4q24	54790	Mis N, F	tet oncogene family member 2				L	L			MDS		1	Deletion - Frameshift(1)	p.P174fs*9(1)	haematopoietic_and_lymphoid_tissue(1)	1314						c.(520-522)cCt>cAt		tet methylcytosine dioxygenase 2		C	HIS/PRO,HIS/PRO	1,4405	2.1+/-5.4	0,1,2202	45.0	41.0	42.0		521,521	3.5	0.2	4	dbSNP_134	42	13,8587	9.8+/-36.6	0,13,4287	yes	missense,missense	TET2	NM_001127208.2,NM_017628.4	77,77	0,14,6489	AA,AC,CC		0.1512,0.0227,0.1076	benign,benign	174/2003,174/1166	106155620	14,12992	2203	4300	6503	SO:0001583	missense	54790	224	121402	54				g.chr4:106155620C>A	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.521C>A	chr4.hg19:g.106155620C>A	ENSP00000442788:p.Pro174His	0					TET2_ENST00000380013.4_Missense_Mutation_p.P174H|TET2_ENST00000413648.2_Missense_Mutation_p.P174H|TET2_ENST00000305737.2_Missense_Mutation_p.P174H|TET2_ENST00000513237.1_Missense_Mutation_p.P195H|TET2_ENST00000394764.1_Missense_Mutation_p.P174H|TET2_ENST00000545826.1_Missense_Mutation_p.P174H	p.P174H			0	0	0	1.966895	Q6N021	TET2_HUMAN		3	1381	+		Myeloproliferative disorder(5;0.0393)	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	1	0	hg19	c.521C>A	CCDS47120.1	1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	6.293	0.422103	0.11928	2.27E-4	0.001512	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648;ENST00000535110	T;T;T;T;T;T;T	0.03580	3.88;4.51;3.88;4.51;4.51;3.88;3.89	5.28	3.52	0.40303	5.280000	3.520000	0.403030	.	2.809240	0.02021	U	0.047775	T	0.03220	0.0094	N	0.08118	0	0.09310	N	1	B;B;B	0.29571	0.05;0.05;0.249	B;B;B	0.30401	0.054;0.054;0.115	T	0.38067	-0.9678	10	0.62326	D	0.03	.	6.1984	0.20563	0.0:0.6803:0.154:0.1657	.	195;174;174	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	H	174;174;174;195;174;174;174;174	ENSP00000306705:P174H;ENSP00000442788:P174H;ENSP00000442867:P174H;ENSP00000425443:P195H;ENSP00000369351:P174H;ENSP00000378245:P174H;ENSP00000391448:P174H	ENSP00000265149:P174H	P	+	2	0	0	TET2	106375069	106375069	0.891000	0.30450	0.239000	0.24122	0.363000	0.29612	0.776000	0.26704	0.573000	0.29400	0.655000	0.94253	CCT	0.069054		TCGA-HZ-8519-01A-11D-2396-08	0.393	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	1	0	0	2	2	2	2	0	0	0	0	51	51	51	51	1	2.020000	-9.539270	1	0.090000	NM_017628		0	7	7	0	165	164	0		1	0		0	0	51	0	0	0.980888	1.077360e-01	0	0	0	12	0	7	165
ATXN3L	92552	broad.mit.edu	37	X	13337260	13337260	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chrX:13337260T>C	ENST00000380622.2	-	1	1258	c.794A>G	c.(793-795)gAt>gGt	p.D265G	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	265					protein deubiquitination (GO:0016579)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						CTTTGGAAGATCTTGCGATGT	0.428																																						ENST00000380622.2	0.920000	0.590000	0.840000	0.660000	0.750000	0.758681	0.750000	0.750000																										0				28						c.(793-795)gAt>gGt		ataxin 3-like							345.0	294.0	310.0					X																	13337260		1568	3582	5150	SO:0001583	missense	92552	0	0					g.chrX:13337260T>C		CCDS48080.1	Xp22	2010-09-30			ENSG00000123594	ENSG00000123594			24173	protein-coding gene	gene with protein product		300920					Standard	NM_001135995		Approved	MJDL	uc010ned.3	Q9H3M9	OTTHUMG00000021146	ENST00000380622.2:c.794A>G	chrX.hg19:g.13337260T>C	ENSP00000369996:p.Asp265Gly						GS1-600G8.3_ENST00000431486.1_RNA	p.D265G	NM_001135995.1	NP_001129467.1	0	1	1		Q9H3M9	ATX3L_HUMAN		1	1258	-			B2RNY8	Missense_Mutation	SNP	ENST00000380622.2	1	1	hg19	c.794A>G	CCDS48080.1	0	.	.	.	.	.	.	.	.	.	.	t	7.958	0.746349	0.15710	.	.	ENSG00000123594	ENST00000380622	T	0.70869	-0.52	0.793	0.793	0.18632	0.793000	0.793000	0.186320	.	0.520162	0.22506	N	0.059168	T	0.52484	0.1737	L	0.29908	0.895	0.22017	N	0.99941	P	0.41313	0.745	B	0.38880	0.284	T	0.49390	-0.8945	10	0.72032	D	0.01	.	5.5756	0.17220	0.0:0.0:0.0:1.0	.	265	Q9H3M9	ATX3L_HUMAN	G	265	ENSP00000369996:D265G	ENSP00000369996:D265G	D	-	2	0	0	ATXN3L	13247181	13247181	0.112000	0.22096	0.277000	0.24703	0.064000	0.16182	0.777000	0.26718	0.549000	0.28973	0.341000	0.21757	GAT	0.090000		TCGA-HZ-8519-01A-11D-2396-08	0.428	ATXN3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055785.2	1	0	1	2	2	2	2	0	0	0	0	201	201	201	199	1	2.020000	-20.000000	1	0.090000	NM_001135995		0	69	67	0	942	934	0		1			0	0	201	0	0	1.000000	0	0	0	0	0	0	69	942
HDAC6	10013	broad.mit.edu	37	X	48664850	48664850	+	Silent	SNP	C	C	T	rs73209760	byFrequency	TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chrX:48664850C>T	ENST00000334136.5	+	7	691	c.513C>T	c.(511-513)taC>taT	p.Y171Y	HDAC6_ENST00000469223.1_3'UTR|HDAC6_ENST00000376619.2_Silent_p.Y171Y|HDAC6_ENST00000413163.2_Silent_p.Y116Y|HDAC6_ENST00000444343.2_Silent_p.Y185Y			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	171	Histone deacetylase 1.				aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	CAGACACCTACGACTCAGTTT	0.517													C|||	6	0.0015894	0.0	0.0014	3775	,	,		14931	0.0		0.005	False		,,,				2504	0.0				Pancreas(112;205 1675 2305 8976 15959)	ENST00000334136.5	0.870000	0.260000	0.710000	0.380000	0.530000	0.550513	0.530000	0.510000																										0				40						c.(511-513)taC>taT		histone deacetylase 6	Vorinostat(DB02546)	C		5,3830		0,5,0,1627,571	119.0	84.0	96.0		513	0.6	1.0	X	dbSNP_130	96	30,6698		0,23,7,2405,1865	no	coding-synonymous	HDAC6	NM_006044.2		0,28,7,4032,2436	TT,TC,T,CC,C		0.4459,0.1304,0.3313		171/1216	48664850	35,10528	2203	4300	6503	SO:0001819	synonymous_variant	10013	211	121410	54				g.chrX:48664850C>T	AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.513C>T	chrX.hg19:g.48664850C>T							HDAC6_ENST00000413163.2_Silent_p.Y116Y|HDAC6_ENST00000376619.2_Silent_p.Y171Y|HDAC6_ENST00000444343.2_Silent_p.Y185Y|HDAC6_ENST00000469223.1_3'UTR	p.Y171Y			0	1	1		Q9UBN7	HDAC6_HUMAN		7	691	+			O94975|Q6NT75|Q7L3E5|Q96CY0	Silent	SNP	ENST00000334136.5	1	0	hg19	c.513C>T	CCDS14306.1	0																																																																																								0.090000		TCGA-HZ-8519-01A-11D-2396-08	0.517	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	1	0	0	2	2	2	2	0	0	0	0	39	39	39	39	1	2.020000	-10.985310	1	0.090000	NM_006044		0	9	9	0	178	178	0		1	0		0	0	39	0	0	0.994567	9.059901e-01	0	0	0	85	0	9	178
