#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PMF1	11243	broad.mit.edu	37	1	156203419	156203419	+	Splice_Site	SNP	G	G	T			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr1:156203419G>T	ENST00000368273.4	+	3	284	c.274G>T	c.(274-276)Gag>Tag	p.E92*	PMF1-BGLAP_ENST00000368276.4_Splice_Site_p.E90*|PMF1_ENST00000368279.3_Splice_Site_p.E90*|PMF1_ENST00000368277.3_Splice_Site_p.E90*|PMF1-BGLAP_ENST00000320139.5_Splice_Site_p.E90*|PMF1_ENST00000565805.1_Splice_Site_p.E90*|PMF1-BGLAP_ENST00000490491.1_Splice_Site_p.E90*|PMF1_ENST00000567140.1_Splice_Site_p.E90*	NM_001199654.1	NP_001186583.1			polyamine-modulated factor 1											kidney(1)|large_intestine(2)|lung(3)	6	Hepatocellular(266;0.158)					TTCTCTTCAGGAGGAAATCTC	0.443																																					Pancreas(32;764 914 7316 34504 37150)|Ovarian(64;846 1195 21996 34382 40415)	ENST00000368277.3																			0				kidney(1)|large_intestine(2)|lung(3)	6						c.(268-270)Gag>Tag		polyamine-modulated factor 1							133.0	142.0	139.0					1																	156203419		2203	4300	6503	SO:0001630	splice_region_variant	11243							g.chr1:156203419G>T	AF141310	CCDS30886.1, CCDS55648.1, CCDS55649.1	1q22	2013-07-03			ENSG00000160783	ENSG00000160783			9112	protein-coding gene	gene with protein product		609176				10419538	Standard	NM_007221		Approved			Q6P1K2	OTTHUMG00000177123	ENST00000368273.4:c.274-1G>T	1.37:g.156203419G>T						PMF1_ENST00000565805.1_Splice_Site_p.E90*|PMF1-BGLAP_ENST00000368276.4_Splice_Site_p.E90*|PMF1-BGLAP_ENST00000320139.5_Splice_Site_p.E90*|PMF1_ENST00000368273.4_Splice_Site_p.E92*|PMF1_ENST00000368279.3_Splice_Site_p.E90*|PMF1-BGLAP_ENST00000490491.1_Splice_Site_p.E90*|PMF1_ENST00000567140.1_Splice_Site_p.E90*	p.E90*	NM_007221.3	NP_009152.2					3	277	+	Hepatocellular(266;0.158)								Splice_Site	SNP	ENST00000368273.4	37	c.268G>T	CCDS55648.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.927608	0.52759	.	.	ENSG00000160783	ENST00000368279;ENST00000368273;ENST00000368277;ENST00000368276;ENST00000320139	.	.	.	5.11	5.11	0.69529	.	0.130010	0.49916	D	0.000129	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.0405	14.0219	0.64560	0.0:0.0:1.0:0.0	.	.	.	.	X	90;92;90;90;90	.	.	E	+	1	0	PMF1	154470043	1.000000	0.71417	0.999000	0.59377	0.843000	0.47879	5.794000	0.69067	2.400000	0.81607	0.484000	0.47621	GAG		0.443	PMF1-005	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040864.2	NM_007221	Nonsense_Mutation	4	110	4	110	---	---	---	---
CD96	10225	broad.mit.edu	37	3	111263902	111263902	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr3:111263902A>G	ENST00000283285.5	+	2	202	c.71A>G	c.(70-72)gAa>gGa	p.E24G	CD96_ENST00000438817.2_Missense_Mutation_p.E24G|CD96_ENST00000352690.4_Missense_Mutation_p.E24G	NM_198196.2	NP_937839.1	P40200	TACT_HUMAN	CD96 molecule	24					cell adhesion (GO:0007155)|immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						GGAGTTTGGGAAAAAACAGTC	0.403									Opitz Trigonocephaly syndrome																													ENST00000352690.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						c.(70-72)gAa>gGa		CD96 molecule							107.0	106.0	106.0					3																	111263902		2203	4300	6503	SO:0001583	missense	10225	Opitz Trigonocephaly syndrome	Familial Cancer Database	C syndrome, Trigonocephaly syndrome	cell adhesion|immune response|regulation of immune response	integral to plasma membrane		g.chr3:111263902A>G	M88282	CCDS2958.1, CCDS2959.1	3p13-q13.2	2013-01-11	2006-03-28		ENSG00000153283	ENSG00000153283		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16892	protein-coding gene	gene with protein product		606037	"""CD96 antigen"""			1313846	Standard	XR_241462		Approved	TACTILE	uc003dxx.3	P40200	OTTHUMG00000159275	ENST00000283285.5:c.71A>G	3.37:g.111263902A>G	ENSP00000283285:p.Glu24Gly					CD96_ENST00000283285.5_Missense_Mutation_p.E24G|CD96_ENST00000438817.2_Missense_Mutation_p.E24G	p.E24G	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN			2	311	+			24					Q5JPB3	Missense_Mutation	SNP	ENST00000283285.5	37	c.71A>G	CCDS2959.1	.	.	.	.	.	.	.	.	.	.	A	7.007	0.555991	0.13436	.	.	ENSG00000153283	ENST00000352690;ENST00000283285;ENST00000438817	T;T;T	0.65549	-0.15;-0.16;-0.16	5.21	-1.35	0.09114	.	0.521728	0.19082	N	0.123220	T	0.39572	0.1083	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.16630	-1.0396	10	0.39692	T	0.17	-2.5289	10.1409	0.42734	0.5706:0.0:0.4294:0.0	.	24;24;24;24	E9PEJ1;P40200-2;P40200;Q8WUE2	.;.;TACT_HUMAN;.	G	24	ENSP00000342040:E24G;ENSP00000283285:E24G;ENSP00000389801:E24G	ENSP00000283285:E24G	E	+	2	0	CD96	112746592	0.882000	0.30256	0.037000	0.18230	0.000000	0.00434	0.327000	0.19663	-0.554000	0.06150	-1.937000	0.00501	GAA		0.403	CD96-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354312.2			6	51	6	51	---	---	---	---
CD200R1L	344807	broad.mit.edu	37	3	112546090	112546090	+	Splice_Site	SNP	T	T	C			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr3:112546090T>C	ENST00000398214.1	-	4	656		c.e4-2		CD200R1L_ENST00000488794.1_Splice_Site|CD200R1L_ENST00000448932.1_Splice_Site	NM_001008784.2	NP_001008784.2	Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like							integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						CGGGTGTAACTGCAGAGAGGA	0.428																																						ENST00000488794.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						c.e6-2		CD200 receptor 1-like							47.0	47.0	47.0					3																	112546090		2196	4298	6494	SO:0001630	splice_region_variant	344807					integral to membrane	receptor activity	g.chr3:112546090T>C	AY284976	CCDS43131.1, CCDS56267.1	3q13.2	2014-05-15	2008-10-08		ENSG00000206531	ENSG00000206531		"""Immunoglobulin superfamily / C2-set domain containing"""	24665	protein-coding gene	gene with protein product	"""CD200 receptor 2"""						Standard	NM_001008784		Approved	CD200RLa, CD200R2	uc003dzi.1	Q6Q8B3	OTTHUMG00000159283	ENST00000398214.1:c.431-2A>G	3.37:g.112546090T>C						CD200R1L_ENST00000448932.1_Splice_Site|CD200R1L_ENST00000398214.1_Splice_Site				Q6Q8B3	MO2R2_HUMAN			6	957	-								Q6WHB7	Splice_Site	SNP	ENST00000398214.1	37		CCDS43131.1	.	.	.	.	.	.	.	.	.	.	T	11.27	1.589508	0.28357	.	.	ENSG00000206531	ENST00000398214;ENST00000488794;ENST00000448932	.	.	.	4.4	4.4	0.53042	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.1697	0.42902	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CD200R1L	114028780	1.000000	0.71417	1.000000	0.80357	0.329000	0.28539	4.093000	0.57714	1.955000	0.56771	0.533000	0.62120	.		0.428	CD200R1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354365.1	NM_001008784	Intron	10	53	10	53	---	---	---	---
KDM3B	51780	broad.mit.edu	37	5	137763721	137763721	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr5:137763721G>A	ENST00000314358.5	+	20	4899	c.4699G>A	c.(4699-4701)Gtt>Att	p.V1567I	KDM3B_ENST00000394866.1_Missense_Mutation_p.V1223I|KDM3B_ENST00000542866.1_Missense_Mutation_p.V599I	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1567	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GTCTGATGCTGTTAATGTGAT	0.433																																						ENST00000314358.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						c.(4699-4701)Gtt>Att		lysine (K)-specific demethylase 3B							350.0	326.0	334.0					5																	137763721		2203	4300	6503	SO:0001583	missense	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137763721G>A	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.4699G>A	5.37:g.137763721G>A	ENSP00000326563:p.Val1567Ile					KDM3B_ENST00000394866.1_Missense_Mutation_p.V1223I|KDM3B_ENST00000542866.1_Missense_Mutation_p.V599I	p.V1567I	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN			20	4899	+			1567			JmjC.		A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	37	c.4699G>A	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	G	33	5.256245	0.95336	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866;ENST00000542866	T;T;T	0.69561	-0.41;-0.41;-0.41	5.81	5.81	0.92471	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.000000	0.85682	D	0.000000	T	0.72930	0.3522	M	0.67953	2.075	0.80722	D	1	P;P	0.37997	0.518;0.614	B;B	0.43360	0.303;0.417	T	0.71882	-0.4458	10	0.45353	T	0.12	-15.5711	20.0838	0.97793	0.0:0.0:1.0:0.0	.	1223;1567	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	I	1567;1357;1223;599	ENSP00000326563:V1567I;ENSP00000378335:V1223I;ENSP00000439462:V599I	ENSP00000326563:V1567I	V	+	1	0	KDM3B	137791620	1.000000	0.71417	0.987000	0.45799	0.996000	0.88848	9.615000	0.98356	2.741000	0.93983	0.655000	0.94253	GTT		0.433	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		26	117	26	117	---	---	---	---
DDX41	51428	broad.mit.edu	37	5	176942200	176942200	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr5:176942200C>T	ENST00000507955.1	-	7	1154	c.631G>A	c.(631-633)Ggc>Agc	p.G211S	DDX41_ENST00000506965.1_5'UTR	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	211					apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			GTGGGGATGCCCTGGATCTGA	0.527																																						ENST00000507955.1																			0											c.(631-633)Ggc>Agc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 41							265.0	224.0	238.0					5																	176942200		2203	4300	6503	SO:0001583	missense	51428				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding	g.chr5:176942200C>T	AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"""DEAD-boxes"""	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.631G>A	5.37:g.176942200C>T	ENSP00000422753:p.Gly211Ser					DDX41_ENST00000506965.1_5'UTR	p.G211S	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		7	1154	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	211					B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Missense_Mutation	SNP	ENST00000507955.1	37	c.631G>A	CCDS4427.1	.	.	.	.	.	.	.	.	.	.	C	31	5.090732	0.94149	.	.	ENSG00000183258	ENST00000330503;ENST00000507955	T;T	0.39787	1.06;1.06	5.53	4.67	0.58626	DEAD-like helicase (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.056843	0.64402	N	0.000001	T	0.45478	0.1344	N	0.10945	0.07	0.80722	D	1	D	0.71674	0.998	D	0.76575	0.988	T	0.56038	-0.8045	10	0.87932	D	0	-36.9553	14.3169	0.66457	0.0:0.9287:0.0:0.0713	.	211	Q9UJV9	DDX41_HUMAN	S	229;211	ENSP00000330349:G229S;ENSP00000422753:G211S	ENSP00000330349:G229S	G	-	1	0	DDX41	176874806	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.528000	0.81941	1.340000	0.45581	0.563000	0.77884	GGC		0.527	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253432.2	NM_016222		7	72	7	72	---	---	---	---
SMPD2	6610	broad.mit.edu	37	6	109763184	109763184	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr6:109763184A>T	ENST00000258052.3	+	4	591	c.232A>T	c.(232-234)Att>Ttt	p.I78F	PPIL6_ENST00000424445.2_5'Flank|PPIL6_ENST00000440797.2_5'Flank|PPIL6_ENST00000521072.2_5'Flank	NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)	78					apoptotic signaling pathway (GO:0097190)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|neurotrophin TRK receptor signaling pathway (GO:0048011)|response to mechanical stimulus (GO:0009612)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin metabolic process (GO:0006684)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		CAGCGGAATCATTGGCAGTGG	0.502																																						ENST00000258052.3																			0				endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8						c.(232-234)Att>Ttt		sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)							241.0	244.0	243.0					6																	109763184		2203	4300	6503	SO:0001583	missense	6610				induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process	integral to plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity	g.chr6:109763184A>T	AJ222801	CCDS5075.1	6q21	2009-10-23			ENSG00000135587	ENSG00000135587	3.1.4.12		11121	protein-coding gene	gene with protein product		603498				9520418	Standard	XM_005267109		Approved	nSMase, ISC1	uc003pti.3	O60906	OTTHUMG00000015348	ENST00000258052.3:c.232A>T	6.37:g.109763184A>T	ENSP00000258052:p.Ile78Phe						p.I78F	NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)	4	591	+		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)	78					Q5TED1|Q9BWR3	Missense_Mutation	SNP	ENST00000258052.3	37	c.232A>T	CCDS5075.1	.	.	.	.	.	.	.	.	.	.	A	14.01	2.407380	0.42715	.	.	ENSG00000135587	ENST00000258052	T	0.29917	1.55	5.22	4.01	0.46588	Endonuclease/exonuclease/phosphatase (2);	0.097154	0.64402	N	0.000002	T	0.06280	0.0162	N	0.20685	0.6	0.50171	D	0.999853	B	0.17667	0.023	B	0.23419	0.046	T	0.17107	-1.0380	10	0.07644	T	0.81	-0.5466	8.2718	0.31849	0.8088:0.0:0.0:0.1912	.	78	O60906	NSMA_HUMAN	F	78	ENSP00000258052:I78F	ENSP00000258052:I78F	I	+	1	0	SMPD2	109869877	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	2.827000	0.48112	0.933000	0.37291	0.533000	0.62120	ATT		0.502	SMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041755.1			28	156	28	156	---	---	---	---
UTRN	7402	broad.mit.edu	37	6	145157448	145157448	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr6:145157448T>C	ENST00000367545.3	+	70	9836	c.9836T>C	c.(9835-9837)gTg>gCg	p.V3279A	UTRN_ENST00000367526.4_Missense_Mutation_p.V834A	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3279					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AATCTACAGGTGGAGTATGAG	0.488																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(9835-9837)gTg>gCg		utrophin							125.0	135.0	132.0					6																	145157448		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:145157448T>C	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.9836T>C	6.37:g.145157448T>C	ENSP00000356515:p.Val3279Ala					UTRN_ENST00000367526.4_Missense_Mutation_p.V834A	p.V3279A	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	70	9836	+		Ovarian(120;0.218)	3279					Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.9836T>C	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	T	3.303	-0.142412	0.06669	.	.	ENSG00000152818	ENST00000367545;ENST00000367526	T;T	0.81078	-1.45;-1.45	5.91	2.03	0.26663	.	0.300780	0.24530	N	0.037726	T	0.15349	0.0370	N	0.00260	-1.75	0.25646	N	0.986146	B	0.02656	0.0	B	0.08055	0.003	T	0.48570	-0.9024	10	0.02654	T	1	.	6.4913	0.22117	0.1161:0.1289:0.0:0.755	.	3279	P46939	UTRO_HUMAN	A	3279;834	ENSP00000356515:V3279A;ENSP00000356496:V834A	ENSP00000356496:V834A	V	+	2	0	UTRN	145199141	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	2.233000	0.43027	0.490000	0.27771	0.533000	0.62120	GTG		0.488	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			26	117	26	117	---	---	---	---
AC005013.5	0	broad.mit.edu	37	7	28997483	28997483	+	lincRNA	SNP	G	G	A			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr7:28997483G>A	ENST00000436594.1	+	0	192				TRIL_ENST00000322982.3_RNA																							AGGTGAGCACGTCGTGGGGGC	0.652																																						ENST00000322982.3																			0													TLR4 interactor with leucine-rich repeats							77.0	82.0	81.0					7																	28997483		2070	4187	6257			9865				inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding	g.chr7:28997483G>A																													7.37:g.28997483G>A						AC005013.5_ENST00000436594.1_lincRNA				Q7L0X0	TRIL_HUMAN			0	451	-									RNA	SNP	ENST00000436594.1	37																																																																																						0.652	AC005013.5-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000327953.3			7	56	7	56	---	---	---	---
NR4A3	8013	broad.mit.edu	37	9	102590779	102590779	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr9:102590779C>T	ENST00000395097.2	+	3	1184	c.455C>T	c.(454-456)gCg>gTg	p.A152V	NR4A3_ENST00000330847.1_Missense_Mutation_p.A163V|NR4A3_ENST00000338488.4_Missense_Mutation_p.A152V	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	152					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				CCCCCGCAGGCGGGGGCGTTA	0.741			T	EWSR1	extraskeletal myxoid chondrosarcoma																																	ENST00000330847.1				Dom	yes		9	9q22	8013	T	"""nuclear receptor subfamily 4, group A, member 3 (NOR1)"""			M	EWSR1		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)	0											c.(487-489)gCg>gTg		nuclear receptor subfamily 4, group A, member 3							18.0	23.0	21.0					9																	102590779		2146	4211	6357	SO:0001583	missense	8013				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding	g.chr9:102590779C>T	U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"""Nuclear hormone receptors"""	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.455C>T	9.37:g.102590779C>T	ENSP00000378531:p.Ala152Val					NR4A3_ENST00000338488.4_Missense_Mutation_p.A152V|NR4A3_ENST00000395097.2_Missense_Mutation_p.A152V	p.A163V			Q92570	NR4A3_HUMAN			2	532	+		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)	152					A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	Missense_Mutation	SNP	ENST00000395097.2	37	c.488C>T	CCDS6743.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.491934	0.44352	.	.	ENSG00000119508	ENST00000395097;ENST00000338488;ENST00000330847	D;D;D	0.91068	-2.77;-2.34;-2.78	5.21	2.99	0.34606	.	1.667310	0.02875	N	0.132179	T	0.82199	0.4985	N	0.08118	0	0.22001	N	0.999428	B;B;B	0.26975	0.021;0.102;0.165	B;B;B	0.18871	0.016;0.017;0.023	T	0.66956	-0.5792	10	0.16896	T	0.51	.	13.7261	0.62759	0.4096:0.5904:0.0:0.0	.	163;152;152	Q92570-3;Q92570;Q92570-2	.;NR4A3_HUMAN;.	V	152;152;163	ENSP00000378531:A152V;ENSP00000340301:A152V;ENSP00000333122:A163V	ENSP00000333122:A163V	A	+	2	0	NR4A3	101630600	0.954000	0.32549	0.955000	0.39395	0.959000	0.62525	1.909000	0.39917	1.267000	0.44247	0.557000	0.71058	GCG		0.741	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1			4	28	4	28	---	---	---	---
XPOT	11260	broad.mit.edu	37	12	64825398	64825398	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr12:64825398C>A	ENST00000332707.5	+	18	2586	c.2057C>A	c.(2056-2058)aCa>aAa	p.T686K		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	686	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		TGTTTACAGACATTCTTGCCA	0.413																																						ENST00000332707.5																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2056-2058)aCa>aAa		exportin, tRNA							101.0	91.0	95.0					12																	64825398		2203	4300	6503	SO:0001583	missense	11260				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	g.chr12:64825398C>A	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.2057C>A	12.37:g.64825398C>A	ENSP00000327821:p.Thr686Lys						p.T686K	NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN		GBM - Glioblastoma multiforme(28;0.0404)	18	2586	+			686			Necessary for tRNA-binding, cytoplasmic localization and nuclear export.		A6NLH1|O43784|Q8WUG2|Q9BVS7	Missense_Mutation	SNP	ENST00000332707.5	37	c.2057C>A	CCDS31852.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.891179	0.52014	.	.	ENSG00000184575	ENST00000332707;ENST00000538086	T;T	0.67698	1.02;-0.28	5.01	5.01	0.66863	Armadillo-like helical (1);Armadillo-type fold (1);	0.207799	0.49305	D	0.000147	T	0.53142	0.1778	L	0.29908	0.895	0.58432	D	0.999995	B	0.31519	0.327	B	0.18871	0.023	T	0.50980	-0.8763	9	.	.	.	.	18.7765	0.91913	0.0:1.0:0.0:0.0	.	686	O43592	XPOT_HUMAN	K	686;208	ENSP00000327821:T686K;ENSP00000444345:T208K	.	T	+	2	0	XPOT	63111665	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.644000	0.61397	2.539000	0.85634	0.549000	0.68633	ACA		0.413	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		4	51	4	51	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105419126	105419126	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr14:105419126C>T	ENST00000333244.5	-	7	2781	c.2662G>A	c.(2662-2664)Gct>Act	p.A888T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	888						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCAGGTCAGCGGAAGGGGGC	0.647																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(2662-2664)Gct>Act		AHNAK nucleoprotein 2							116.0	134.0	128.0					14																	105419126		1886	4105	5991	SO:0001583	missense	113146					nucleus		g.chr14:105419126C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.2662G>A	14.37:g.105419126C>T	ENSP00000353114:p.Ala888Thr					AHNAK2_ENST00000557457.1_Intron	p.A888T	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	2781	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	888					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.2662G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	9.311	1.055575	0.19907	.	.	ENSG00000185567	ENST00000333244	T	0.00892	5.57	4.16	0.138	0.14793	.	.	.	.	.	T	0.01124	0.0037	M	0.69248	2.105	0.09310	N	1	P	0.50272	0.933	B	0.39152	0.292	T	0.46020	-0.9221	9	0.10111	T	0.7	-5.9297	8.0052	0.30321	0.0:0.6507:0.0:0.3493	.	888	Q8IVF2	AHNK2_HUMAN	T	888	ENSP00000353114:A888T	ENSP00000353114:A888T	A	-	1	0	AHNAK2	104490171	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.106000	0.15354	-0.332000	0.08489	-1.386000	0.01163	GCT		0.647	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		11	165	11	165	---	---	---	---
HYDIN	54768	broad.mit.edu	37	16	70843713	70843713	+	Silent	SNP	T	T	A			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr16:70843713T>A	ENST00000393567.2	-	85	15006	c.14856A>T	c.(14854-14856)acA>acT	p.T4952T		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4952					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TCCTCTGCCGTGTGTAATTGA	0.507																																						ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(14854-14856)acA>acT		HYDIN, axonemal central pair apparatus protein							187.0	188.0	188.0					16																	70843713		1956	4147	6103	SO:0001819	synonymous_variant	54768							g.chr16:70843713T>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.14856A>T	16.37:g.70843713T>A							p.T4952T	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			85	15006	-		Ovarian(137;0.0654)	4952					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	c.14856A>T	CCDS59269.1																																																																																				0.507	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			9	89	9	89	---	---	---	---
SUPT6H	6830	broad.mit.edu	37	17	27011735	27011735	+	Silent	SNP	C	C	A			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr17:27011735C>A	ENST00000314616.6	+	18	2644	c.2361C>A	c.(2359-2361)tcC>tcA	p.S787S	SUPT6H_ENST00000347486.4_Silent_p.S787S	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	787	Interaction with KDM6A. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TTGCTTTCTCCTCTGCCAGGT	0.468																																						ENST00000314616.6																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2359-2361)tcC>tcA		suppressor of Ty 6 homolog (S. cerevisiae)							147.0	134.0	138.0					17																	27011735		2203	4300	6503	SO:0001819	synonymous_variant	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27011735C>A	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.2361C>A	17.37:g.27011735C>A						SUPT6H_ENST00000347486.4_Silent_p.S787S	p.S787S	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			18	2644	+	Lung NSC(42;0.00431)		787					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Silent	SNP	ENST00000314616.6	37	c.2361C>A	CCDS32596.1																																																																																				0.468	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		3	36	3	36	---	---	---	---
GMIP	51291	broad.mit.edu	37	19	19745500	19745500	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr19:19745500C>T	ENST00000203556.4	-	18	2037	c.1900G>A	c.(1900-1902)Gtg>Atg	p.V634M	GMIP_ENST00000587238.1_Missense_Mutation_p.V608M|GMIP_ENST00000445806.2_Missense_Mutation_p.V605M|GMIP_ENST00000586269.1_Intron	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	634	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						AAGGGGATCACGGGCTCGGTG	0.667																																						ENST00000203556.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(1900-1902)Gtg>Atg		GEM interacting protein							121.0	123.0	123.0					19																	19745500		2203	4300	6503	SO:0001583	missense	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19745500C>T	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.1900G>A	19.37:g.19745500C>T	ENSP00000203556:p.Val634Met					GMIP_ENST00000445806.2_Missense_Mutation_p.V605M|GMIP_ENST00000586269.1_Intron|GMIP_ENST00000587238.1_Missense_Mutation_p.V608M	p.V634M	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN			18	2037	-			634			Rho-GAP.		A0AVN9|B7ZLZ0	Missense_Mutation	SNP	ENST00000203556.4	37	c.1900G>A	CCDS12408.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.735493	0.49045	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.48201	0.82;0.82	4.85	2.24	0.28232	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.236110	0.22606	N	0.057883	T	0.65933	0.2739	M	0.87180	2.865	0.37434	D	0.914141	D;D;D	0.62365	0.991;0.986;0.991	P;D;P	0.63283	0.837;0.913;0.837	T	0.72903	-0.4151	10	0.87932	D	0	-13.0058	8.6041	0.33762	0.0:0.7357:0.1618:0.1025	.	605;608;634	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	M	634;605	ENSP00000203556:V634M;ENSP00000397075:V605M	ENSP00000203556:V634M	V	-	1	0	GMIP	19606500	0.000000	0.05858	1.000000	0.80357	0.971000	0.66376	-0.408000	0.07169	1.003000	0.39130	0.561000	0.74099	GTG		0.667	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		21	119	21	119	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31767790	31767790	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr19:31767790T>C	ENST00000240587.4	-	2	3236	c.2909A>G	c.(2908-2910)gAc>gGc	p.D970G		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	970					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GTGGCCAGTGTCCAAGTTTTT	0.522																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(2908-2910)gAc>gGc		teashirt zinc finger homeobox 3							66.0	62.0	64.0					19																	31767790		2203	4300	6503	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31767790T>C	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.2909A>G	19.37:g.31767790T>C	ENSP00000240587:p.Asp970Gly						p.D970G	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	3236	-	Esophageal squamous(110;0.226)		970					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.2909A>G	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	T	21.5	4.163653	0.78226	.	.	ENSG00000121297	ENST00000240587	T	0.19250	2.16	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.44117	0.1278	L	0.60455	1.87	0.80722	D	1	D	0.63880	0.993	D	0.74674	0.984	T	0.32561	-0.9902	10	0.72032	D	0.01	-38.0373	16.216	0.82217	0.0:0.0:0.0:1.0	.	970	Q63HK5	TSH3_HUMAN	G	970	ENSP00000240587:D970G	ENSP00000240587:D970G	D	-	2	0	TSHZ3	36459630	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.671000	0.83941	2.228000	0.72767	0.482000	0.46254	GAC		0.522	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		5	43	5	43	---	---	---	---
ZNF587	84914	broad.mit.edu	37	19	58371137	58371137	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr19:58371137G>T	ENST00000339656.5	+	3	1539	c.1357G>T	c.(1357-1359)Gtt>Ttt	p.V453F	ZNF814_ENST00000595295.1_Intron|ZNF587_ENST00000419854.1_Missense_Mutation_p.V410F|ZNF814_ENST00000596604.1_Intron|ZNF587_ENST00000423137.1_Missense_Mutation_p.V452F|ZNF814_ENST00000597652.1_5'Flank|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	453					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		TCATCTTCTGGTTCATGAGAG	0.433																																					Pancreas(59;641 1233 1885 20055 50741)	ENST00000339656.5																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15						c.(1357-1359)Gtt>Ttt		zinc finger protein 587							126.0	154.0	145.0					19																	58371137		2203	4300	6503	SO:0001583	missense	84914				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58371137G>T	AF294842	CCDS12964.1, CCDS56110.1	19q13.43	2013-01-08				ENSG00000198466		"""Zinc fingers, C2H2-type"", ""-"""	30955	protein-coding gene	gene with protein product						10520746	Standard	NM_032828		Approved	ZF6, FLJ14710, UBF-fl, FLJ20813	uc002qql.3	Q96SQ5	OTTHUMG00000154901	ENST00000339656.5:c.1357G>T	19.37:g.58371137G>T	ENSP00000345479:p.Val453Phe					ZNF814_ENST00000597342.1_Intron|ZNF587_ENST00000423137.1_Missense_Mutation_p.V452F|ZNF587_ENST00000419854.1_Missense_Mutation_p.V410F|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron	p.V453F	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)	3	1539	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	453					A0AV72|G3V0H5|Q6ZMK8	Missense_Mutation	SNP	ENST00000339656.5	37	c.1357G>T	CCDS12964.1	.	.	.	.	.	.	.	.	.	.	.	10.71	1.428076	0.25726	.	.	ENSG00000198466	ENST00000376209;ENST00000423137;ENST00000339656;ENST00000540851;ENST00000419854	T;T;T	0.07567	3.18;3.18;3.18	1.76	-3.53	0.04667	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05686	0.0149	L	0.33093	0.98	0.25920	N	0.983122	P;B	0.34562	0.457;0.356	B;B	0.34991	0.193;0.111	T	0.20273	-1.0280	8	0.54805	T	0.06	.	3.9824	0.09501	0.3567:0.3637:0.2796:0.0	.	452;453	G3V0H5;Q96SQ5	.;ZN587_HUMAN	F	410;452;453;453;410	ENSP00000393865:V452F;ENSP00000345479:V453F;ENSP00000406999:V410F	ENSP00000345479:V453F	V	+	1	0	ZNF587	63062949	0.000000	0.05858	0.000000	0.03702	0.246000	0.25737	-4.861000	0.00177	-1.731000	0.01360	0.195000	0.17529	GTT		0.433	ZNF587-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337594.2	NM_032828		11	72	11	72	---	---	---	---
CHDC2	286464	broad.mit.edu	37	X	36103579	36103579	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chrX:36103579T>C	ENST00000313548.4	+	5	751	c.565T>C	c.(565-567)Tct>Cct	p.S189P		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	189						integral component of membrane (GO:0016021)											TTCAAGTCAATCTTTACCTGT	0.368																																						ENST00000313548.4																			0											c.(565-567)Tct>Cct		calponin homology domain containing 2							84.0	78.0	80.0					X																	36103579		2202	4300	6502	SO:0001583	missense	286464							g.chrX:36103579T>C	AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"""chromosome X open reading frame 59"""	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.565T>C	X.37:g.36103579T>C	ENSP00000324767:p.Ser189Pro						p.S189P	NM_173695.2	NP_775966.1					5	751	+									Missense_Mutation	SNP	ENST00000313548.4	37	c.565T>C	CCDS14238.1	.	.	.	.	.	.	.	.	.	.	T	6.445	0.450220	0.12223	.	.	ENSG00000176034	ENST00000378660;ENST00000313548	.	.	.	5.9	4.62	0.57501	.	0.103386	0.39146	N	0.001444	T	0.23370	0.0565	N	0.12182	0.205	0.22171	N	0.999319	B	0.22276	0.067	B	0.16289	0.015	T	0.11397	-1.0589	9	0.29301	T	0.29	-21.3174	10.3313	0.43825	0.1602:0.0:0.0:0.8398	.	189	Q8N9S7	CX059_HUMAN	P	189	.	ENSP00000324767:S189P	S	+	1	0	CXorf59	36013500	1.000000	0.71417	0.866000	0.34008	0.046000	0.14306	2.635000	0.46537	1.974000	0.57490	0.486000	0.48141	TCT		0.368	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173695		9	19	9	19	---	---	---	---
BRWD3	254065	broad.mit.edu	37	X	79984395	79984395	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chrX:79984395C>A	ENST00000373275.4	-	14	1458	c.1242G>T	c.(1240-1242)ttG>ttT	p.L414F		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	414					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CTCCAGATGGCAAATTATTGC	0.338																																						ENST00000373275.4																			0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(1240-1242)ttG>ttT		bromodomain and WD repeat domain containing 3							92.0	78.0	83.0					X																	79984395		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79984395C>A		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.1242G>T	X.37:g.79984395C>A	ENSP00000362372:p.Leu414Phe						p.L414F	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN			14	1458	-			414					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.1242G>T	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	C	9.511	1.105837	0.20632	.	.	ENSG00000165288	ENST00000373275	T	0.55760	0.5	4.4	2.61	0.31194	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);WD40-repeat-containing domain (1);	1.055530	0.07388	N	0.888554	T	0.43144	0.1234	L	0.46157	1.445	0.20074	N	0.999932	B	0.19935	0.04	B	0.15870	0.014	T	0.29671	-1.0004	9	.	.	.	-2.3199	5.3834	0.16204	0.1513:0.5981:0.0:0.2506	.	414	Q6RI45	BRWD3_HUMAN	F	414	ENSP00000362372:L414F	.	L	-	3	2	BRWD3	79871051	0.908000	0.30866	1.000000	0.80357	0.788000	0.44548	0.178000	0.16820	0.984000	0.38629	0.422000	0.28245	TTG		0.338	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		11	42	11	42	---	---	---	---
ACTRT1	139741	broad.mit.edu	37	X	127185975	127185975	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chrX:127185975G>T	ENST00000371124.3	-	1	407	c.211C>A	c.(211-213)Cac>Aac	p.H71N		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	71						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						ATGGGGTAGTGCAAATGTAGG	0.473																																						ENST00000371124.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						c.(211-213)Cac>Aac		actin-related protein T1							151.0	139.0	143.0					X																	127185975		2203	4300	6503	SO:0001583	missense	139741					cytoplasm|cytoskeleton		g.chrX:127185975G>T	AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.211C>A	X.37:g.127185975G>T	ENSP00000360165:p.His71Asn						p.H71N	NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN			1	407	-			71					Q6X7C1|Q96L10	Missense_Mutation	SNP	ENST00000371124.3	37	c.211C>A	CCDS14611.1	.	.	.	.	.	.	.	.	.	.	G	4.504	0.093547	0.08632	.	.	ENSG00000123165	ENST00000371124	D	0.94092	-3.35	3.76	3.76	0.43208	.	0.761606	0.12113	N	0.498360	D	0.84960	0.5588	N	0.11064	0.09	0.25398	N	0.98847	B	0.16166	0.016	B	0.14578	0.011	T	0.76699	-0.2863	10	0.87932	D	0	.	7.8247	0.29307	0.0:0.0:0.753:0.247	.	71	Q8TDG2	ACTT1_HUMAN	N	71	ENSP00000360165:H71N	ENSP00000360165:H71N	H	-	1	0	ACTRT1	127013656	0.997000	0.39634	0.034000	0.17996	0.083000	0.17756	2.507000	0.45442	2.133000	0.65898	0.544000	0.68410	CAC		0.473	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289		6	60	6	60	---	---	---	---
MAGEA6	4105	broad.mit.edu	37	X	151870216	151870216	+	Silent	SNP	A	A	T			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chrX:151870216A>T	ENST00000329342.5	+	3	1131	c.906A>T	c.(904-906)ccA>ccT	p.P302P		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	302	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCCTACCCACTCCTGCATG	0.567																																						ENST00000329342.5																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28						c.(904-906)ccA>ccT		melanoma antigen family A, 6							123.0	120.0	121.0					X																	151870216		2202	4298	6500	SO:0001819	synonymous_variant	4105						protein binding	g.chrX:151870216A>T		CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"""MAGE-6 antigen"", ""melanoma-associated antigen 6"", ""melanoma antigen family A 6"", ""cancer/testis antigen family 1, member 6"""	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.906A>T	X.37:g.151870216A>T							p.P302P	NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN			3	1131	+	Acute lymphoblastic leukemia(192;6.56e-05)		302			MAGE.		A8IF93|Q6NW44	Silent	SNP	ENST00000329342.5	37	c.906A>T	CCDS14708.1																																																																																				0.567	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363		22	50	22	50	---	---	---	---
