#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	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	lincRNA	SNP	A	A	G	rs374719458		TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373																																						ENST00000548109.1																			0																																																			0							g.chr14:19857036A>G																													14.37:g.19857036A>G														0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			3	59	0	0	0	1	0	3	59				
FAM170A	340069	broad.mit.edu	37	5	118970330	118970330	+	Missense_Mutation	SNP	C	C	A			TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr5:118970330C>A	ENST00000515256.1	+	3	1059	c.887C>A	c.(886-888)gCa>gAa	p.A296E				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	296	Glu-rich.				positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						aaaccagaagcaaaggaggag	0.527																																						ENST00000515256.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						c.(886-888)gCa>gAa		family with sequence similarity 170, member A							101.0	127.0	119.0					5																	118970330		2014	4163	6177	SO:0001583	missense	340069					intracellular	zinc ion binding	g.chr5:118970330C>A	AF427126	CCDS43353.1, CCDS54889.1	5q23.1	2008-06-12			ENSG00000164334	ENSG00000164334			27963	protein-coding gene	gene with protein product						12477932	Standard	NM_182761		Approved		uc003ksn.3	A1A519	OTTHUMG00000162946	ENST00000515256.1:c.887C>A	5.37:g.118970330C>A	ENSP00000422684:p.Ala296Glu						p.A296E			A1A519	F170A_HUMAN			3	1059	+			296			Glu-rich.		Q66LM8|Q7Z4V2|Q8IW94	Missense_Mutation	SNP	ENST00000515256.1	37	c.887C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.510|1.510	-0.549765|-0.549765	0.03996|0.03996	.|.	.|.	ENSG00000164334|ENSG00000164334	ENST00000515256|ENST00000296787	T|.	0.28255|.	1.62|.	4.15|4.15	1.65|1.65	0.23941|0.23941	.|.	1.844240|.	0.02466|.	N|.	0.087027|.	T|T	0.07324|0.07324	0.0185|0.0185	N|N	0.00347|0.00347	-1.61|-1.61	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.0;0.001|.	T|T	0.37033|0.37033	-0.9723|-0.9723	9|5	.|.	.|.	.|.	-3.4698|-3.4698	8.4743|8.4743	0.33003|0.33003	0.5989:0.4011:0.0:0.0|0.5989:0.4011:0.0:0.0	.|.	249;296|.	D6RIE9;A1A519|.	.;F170A_HUMAN|.	E|K	296|231	ENSP00000422684:A296E|.	.|.	A|Q	+|+	2|1	0|0	FAM170A|FAM170A	118998229|118998229	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.006000|0.006000	0.05464|0.05464	0.512000|0.512000	0.22755|0.22755	0.354000|0.354000	0.24105|0.24105	-0.266000|-0.266000	0.10368|0.10368	GCA|CAA		0.527	FAM170A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371126.1	NM_182761		11	60	1	0	0.000978159	1	0.00102964	11	60				
AR	367	broad.mit.edu	37	X	66905872	66905872	+	Missense_Mutation	SNP	G	G	A	rs137852569		TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chrX:66905872G>A	ENST00000374690.3	+	3	2313	c.1789G>A	c.(1789-1791)Gcc>Acc	p.A597T	AR_ENST00000396043.2_Missense_Mutation_p.A65T|AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_Missense_Mutation_p.A597T|AR_ENST00000396044.3_Missense_Mutation_p.A597T	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	596	Interaction with HIPK3. {ECO:0000250}.|Interaction with LPXN.		S -> G (in PAIS; high dissociation rate; associated with P-617 in a PAIS patient; partially restores DNA-binding activity of P-617 mutant receptors). {ECO:0000269|PubMed:1316540}.|S -> T (in a patient with severe hypospadias). {ECO:0000269|PubMed:10092153}.		androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	GTACCTGTGCGCCAGCAGAAA	0.413									Androgen Insensitivity Syndrome																													ENST00000374690.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	GRCh37	CM920071	AR	M	rs137852569	c.(1789-1791)Gcc>Acc		androgen receptor	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)						106.0	93.0	97.0					X																	66905872		2203	4300	6503	SO:0001583	missense	367	Androgen Insensitivity Syndrome	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chrX:66905872G>A	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.1789G>A	X.37:g.66905872G>A	ENSP00000363822:p.Ala597Thr					AR_ENST00000396044.3_Missense_Mutation_p.A597T|AR_ENST00000504326.1_Missense_Mutation_p.A597T|AR_ENST00000513847.1_3'UTR|AR_ENST00000396043.2_Missense_Mutation_p.A65T	p.A597T	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN			3	2313	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	596		S -> G (in PAIS; high dissociation rate; associated with P-617 in a PAIS patient; partially restores DNA-binding activity of P-617 mutant receptors).|S -> T (in a patient with severe hypospadias).	Interaction with HIPK3 (By similarity).		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	c.1789G>A	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.214457	0.58452	.	.	ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000504326;ENST00000396044;ENST00000396043	D;D;D;D	0.97209	-4.29;-4.29;-4.29;-4.29	5.32	4.47	0.54385	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (3);	0.000000	0.85682	D	0.000000	D	0.97155	0.9070	L	0.45352	1.415	0.80722	D	1	P;P;D;B	0.89917	0.881;0.881;1.0;0.343	B;B;D;B	0.97110	0.175;0.175;1.0;0.076	D	0.97171	0.9844	10	0.87932	D	0	.	10.6719	0.45764	0.0936:0.0:0.9064:0.0	.	597;597;65;596	E7EVX6;D3YPQ2;F1D8N5;P10275	.;.;.;ANDR_HUMAN	T	407;597;597;597;65	ENSP00000363822:A597T;ENSP00000421155:A597T;ENSP00000379359:A597T;ENSP00000379358:A65T	ENSP00000363822:A597T	A	+	1	0	AR	66822597	1.000000	0.71417	0.987000	0.45799	0.102000	0.19082	9.050000	0.93843	1.228000	0.43614	-0.306000	0.09157	GCC		0.413	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		26	8	0	0	0	1	0	26	8				
ARHGAP5	394	broad.mit.edu	37	14	32561297	32561297	+	Silent	SNP	A	A	G			TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr14:32561297A>G	ENST00000345122.3	+	2	1737	c.1422A>G	c.(1420-1422)gtA>gtG	p.V474V	ARHGAP5_ENST00000432921.1_Silent_p.V474V|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Silent_p.V474V|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Silent_p.V474V	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	474	FF 3.				cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		GCAAAGAGGTATATGGTAGGC	0.373																																					NSCLC(9;77 350 3443 29227 41353)	ENST00000345122.3																			0				NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55						c.(1420-1422)gtA>gtG		Rho GTPase activating protein 5							74.0	76.0	75.0					14																	32561297		2203	4297	6500	SO:0001819	synonymous_variant	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32561297A>G	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.1422A>G	14.37:g.32561297A>G						ARHGAP5_ENST00000556611.1_Silent_p.V474V|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Silent_p.V474V|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000539826.2_Silent_p.V474V	p.V474V	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	2	1737	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		474			FF 3.		A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Silent	SNP	ENST00000345122.3	37	c.1422A>G	CCDS32062.1																																																																																				0.373	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		3	70	0	0	0	1	0	3	70				
LRRC37A4P	55073	broad.mit.edu	37	17	43587730	43587730	+	RNA	SNP	A	A	C			TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr17:43587730A>C	ENST00000579913.1	-	0	1394				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GTATTGATTCATTTTATTCAT	0.343																																						ENST00000253803.2																			0																																																			0							g.chr17:43587730A>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587730A>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.343	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		5	50	0	0	0	1	0	5	50				
ITIH2	3698	broad.mit.edu	37	10	7780626	7780626	+	Missense_Mutation	SNP	C	C	T			TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr10:7780626C>T	ENST00000358415.4	+	16	2166	c.2000C>T	c.(1999-2001)cCg>cTg	p.P667L	ITIH2_ENST00000379587.4_Missense_Mutation_p.P656L	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	667	O-glycosylated at three sites.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GATTCCACCCCGTCTTGGGCC	0.527																																						ENST00000358415.4																			0				NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(1999-2001)cCg>cTg		inter-alpha-trypsin inhibitor heavy chain 2							128.0	111.0	116.0					10																	7780626		2203	4300	6503	SO:0001583	missense	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7780626C>T	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.2000C>T	10.37:g.7780626C>T	ENSP00000351190:p.Pro667Leu					ITIH2_ENST00000379587.4_Missense_Mutation_p.P656L	p.P667L	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN			16	2166	+			667					Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	c.2000C>T	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032778	0.75504	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	T;T	0.01516	4.82;4.81	5.23	5.23	0.72850	.	0.558033	0.18234	N	0.147470	T	0.08133	0.0203	M	0.78916	2.43	0.80722	D	1	D	0.69078	0.997	P	0.55713	0.782	T	0.10314	-1.0635	10	0.41790	T	0.15	-14.2203	16.5895	0.84761	0.0:1.0:0.0:0.0	.	667	P19823	ITIH2_HUMAN	L	667;656	ENSP00000351190:P667L;ENSP00000368906:P656L	ENSP00000351190:P667L	P	+	2	0	ITIH2	7820632	0.987000	0.35691	0.408000	0.26446	0.053000	0.15095	3.986000	0.56937	2.451000	0.82905	0.556000	0.70494	CCG		0.527	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		27	36	0	0	0	1	0	27	36				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			5	39	0	0	0	1	0	5	39				
ZFHX3	463	broad.mit.edu	37	16	72821615	72821615	+	Silent	SNP	G	G	A			TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr16:72821615G>A	ENST00000268489.5	-	10	11232	c.10560C>T	c.(10558-10560)ggC>ggT	p.G3520G	AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2606G|RP5-991G20.4_ENST00000569195.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3520	Poly-Gly.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgccgccgccaccgccgc	0.706																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(10558-10560)ggC>ggT		zinc finger homeobox 3							10.0	14.0	12.0					16																	72821615		1455	3158	4613	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72821615G>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10560C>T	16.37:g.72821615G>A						ZFHX3_ENST00000397992.5_Silent_p.G2606G|AC004943.1_ENST00000584072.1_RNA	p.G3520G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	11232	-		Ovarian(137;0.13)	3520			Poly-Gly.		D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.10560C>T	CCDS10908.1																																																																																				0.706	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		4	26	0	0	0	1	0	4	26				
ABHD16A	7920	broad.mit.edu	37	6	31668722	31668722	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr6:31668722G>A	ENST00000395952.3	-	4	502	c.340C>T	c.(340-342)Cga>Tga	p.R114*	ABHD16A_ENST00000440843.2_Nonsense_Mutation_p.R81*|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|MIR4646_ENST00000580775.1_RNA|ABHD16A_ENST00000375842.4_5'UTR|ABHD16A_ENST00000538874.1_Silent_p.S15S	NM_021160.2	NP_066983.1	O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	114						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						CACCTACCTCGGAGGCAGGCC	0.483																																						ENST00000395952.3																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						c.(340-342)Cga>Tga		abhydrolase domain containing 16A							82.0	74.0	77.0					6																	31668722		2203	4300	6503	SO:0001587	stop_gained	7920					integral to membrane	hydrolase activity|protein binding	g.chr6:31668722G>A	AF129756	CCDS4713.1, CCDS54988.1	6p21.3	2013-01-17	2010-12-09	2010-12-09	ENSG00000204427	ENSG00000204427		"""Abhydrolase domain containing"""	13921	protein-coding gene	gene with protein product		142620	"""HLA-B associated transcript 5"""	BAT5		2911734, 2813433	Standard	NM_021160		Approved	NG26, D6S82E	uc003nvy.2	O95870	OTTHUMG00000031177	ENST00000395952.3:c.340C>T	6.37:g.31668722G>A	ENSP00000379282:p.Arg114*					XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000375842.4_5'UTR|ABHD16A_ENST00000440843.2_Nonsense_Mutation_p.R81*|ABHD16A_ENST00000538874.1_Silent_p.S15S	p.R114*	NM_021160.2	NP_066983.1	O95870	ABHGA_HUMAN			4	502	-			114					A2BEY3|B7Z4R6|Q5SRR1|Q5SRR2|Q8WYH0|Q9NW33	Nonsense_Mutation	SNP	ENST00000395952.3	37	c.340C>T	CCDS4713.1	.	.	.	.	.	.	.	.	.	.	G	37	6.181496	0.97352	.	.	ENSG00000204427	ENST00000395952;ENST00000440843	.	.	.	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.5142	0.50511	0.0:0.0:0.8208:0.1792	.	.	.	.	X	114;81	.	ENSP00000379282:R114X	R	-	1	2	ABHD16A	31776701	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	3.249000	0.51437	2.547000	0.85894	0.491000	0.48974	CGA		0.483	ABHD16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076342.4			15	25	0	0	0	1	0	15	25				
TRPS1	7227	broad.mit.edu	37	8	116632180	116632180	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr8:116632180C>A	ENST00000220888.5	-	2	265	c.106G>T	c.(106-108)Gaa>Taa	p.E36*	TRPS1_ENST00000395715.3_Nonsense_Mutation_p.E49*|TRPS1_ENST00000519674.1_Nonsense_Mutation_p.E36*|TRPS1_ENST00000520276.1_Nonsense_Mutation_p.E40*|TRPS1_ENST00000519076.1_Nonsense_Mutation_p.E36*			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	36					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GCAGAAAATTCTTTGTTCTTT	0.448									Langer-Giedion syndrome																													ENST00000395715.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111						c.(145-147)Gaa>Taa		trichorhinophalangeal syndrome I							113.0	101.0	105.0					8																	116632180		1862	4124	5986	SO:0001587	stop_gained	7227	Langer-Giedion syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116632180C>A	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.106G>T	8.37:g.116632180C>A	ENSP00000220888:p.Glu36*					TRPS1_ENST00000220888.5_Nonsense_Mutation_p.E36*|TRPS1_ENST00000519674.1_Nonsense_Mutation_p.E36*|TRPS1_ENST00000519076.1_Nonsense_Mutation_p.E36*|TRPS1_ENST00000520276.1_Nonsense_Mutation_p.E40*	p.E49*	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		3	722	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		36					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Nonsense_Mutation	SNP	ENST00000220888.5	37	c.145G>T		.	.	.	.	.	.	.	.	.	.	C	31	5.089198	0.94100	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674;ENST00000395713;ENST00000519815;ENST00000422939	.	.	.	5.82	5.82	0.92795	.	0.233067	0.36893	N	0.002347	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.592	20.0966	0.97849	0.0:1.0:0.0:0.0	.	.	.	.	X	49;36;36;40;36;49;49;49	.	ENSP00000220888:E36X	E	-	1	0	TRPS1	116701355	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.123000	0.57917	2.751000	0.94390	0.650000	0.86243	GAA		0.448	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		15	49	1	0	0.00244969	1	0.00251251	15	49				
IGHV2-26	28455	broad.mit.edu	37	14	106757786	106757786	+	RNA	SNP	G	G	A			TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr14:106757786G>A	ENST00000390611.2	-	0	244									immunoglobulin heavy variable 2-26																		TTCGTCATTCGAAAAAATGTG	0.532																																						ENST00000390611.2																			0																				80.0	77.0	78.0					14																	106757786		1949	4146	6095			0							g.chr14:106757786G>A	M99648		14q32.33	2012-02-08			ENSG00000211951	ENSG00000211951		"""Immunoglobulins / IGH locus"""	5575	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152100		14.37:g.106757786G>A														0	244	-									RNA	SNP	ENST00000390611.2	37																																																																																						0.532	IGHV2-26-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325197.1	NG_001019		6	70	0	0	0	1	0	6	70				
KRT35	3886	broad.mit.edu	37	17	39635635	39635635	+	Silent	SNP	C	C	T			TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr17:39635635C>T	ENST00000393989.1	-	3	717	c.675G>A	c.(673-675)aaG>aaA	p.K225K	KRT35_ENST00000246639.2_Silent_p.K195K	NM_002280.4	NP_002271.3	Q92764	KRT35_HUMAN	keratin 35	225	Coil 1B.|Rod.				anatomical structure morphogenesis (GO:0009653)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				GCAGCTCCTCCTTCAGGGACT	0.602																																						ENST00000246639.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(583-585)aaG>aaA		keratin 35							102.0	98.0	99.0					17																	39635635		2203	4300	6503	SO:0001819	synonymous_variant	3886				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity	g.chr17:39635635C>T	X90762	CCDS11394.2	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000197079	ENSG00000197079		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6453	protein-coding gene	gene with protein product	"""hard keratin type I 5"""	602764	"""keratin, hair, acidic, 5"""	KRTHA5		8823373, 16831889	Standard	NM_002280		Approved	Ha-5	uc002hws.3	Q92764	OTTHUMG00000133425	ENST00000393989.1:c.675G>A	17.37:g.39635635C>T						KRT35_ENST00000393989.1_Silent_p.K225K	p.K195K			Q92764	KRT35_HUMAN			3	717	-		Breast(137;0.000286)	225			Coil 1B.|Rod.		O76012|Q92651	Silent	SNP	ENST00000393989.1	37	c.585G>A	CCDS11394.2																																																																																				0.602	KRT35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_002280		3	74	0	0	0	1	0	3	74				
ADAM29	11086	broad.mit.edu	37	4	175898876	175898876	+	Missense_Mutation	SNP	C	C	A	rs138923714		TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr4:175898876C>A	ENST00000359240.3	+	5	2870	c.2200C>A	c.(2200-2202)Cct>Act	p.P734T	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Missense_Mutation_p.P734T|ADAM29_ENST00000514159.1_Missense_Mutation_p.P734T|ADAM29_ENST00000445694.1_Missense_Mutation_p.P734T	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	734					spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CCAGAGTCAACCTTGGGTGAT	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		20453	0.0		0.0	False		,,,				2504	0.001				Ovarian(140;1727 1835 21805 25838 41440)	ENST00000359240.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(2200-2202)Cct>Act		ADAM metallopeptidase domain 29		C	THR/PRO,THR/PRO,THR/PRO,THR/PRO	4,4402	8.1+/-20.4	0,4,2199	118.0	108.0	112.0		2200,2200,2200,2200	1.2	0.0	4	dbSNP_134	112	0,8600		0,0,4300	no	missense,missense,missense,missense	ADAM29	NM_001130703.1,NM_001130704.1,NM_001130705.1,NM_014269.4	38,38,38,38	0,4,6499	AA,AC,CC		0.0,0.0908,0.0308	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	734/821,734/821,734/821,734/821	175898876	4,13002	2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175898876C>A	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.2200C>A	4.37:g.175898876C>A	ENSP00000352177:p.Pro734Thr					ADAM29_ENST00000514159.1_Missense_Mutation_p.P734T|ADAM29_ENST00000404450.4_Missense_Mutation_p.P734T|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000445694.1_Missense_Mutation_p.P734T	p.P734T	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	2870	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	734					Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.2200C>A	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	C	6.903	0.536185	0.13188	9.08E-4	0.0	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.01981	4.52;4.52;4.52;4.52	2.13	1.24	0.21308	.	.	.	.	.	T	0.00998	0.0033	N	0.08118	0	0.09310	N	1	P	0.51933	0.949	B	0.34346	0.18	T	0.51553	-0.8691	8	.	.	.	.	4.851	0.13537	0.0:0.6435:0.0:0.3565	.	734	Q9UKF5	ADA29_HUMAN	T	734	ENSP00000352177:P734T;ENSP00000414544:P734T;ENSP00000384229:P734T;ENSP00000423517:P734T	.	P	+	1	0	ADAM29	176135451	0.005000	0.15991	0.014000	0.15608	0.019000	0.09904	-0.347000	0.07750	0.179000	0.19938	0.297000	0.19635	CCT		0.493	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				44	50	1	0	1.48734e-19	1	1.60793e-19	44	50				
ENPP5	59084	broad.mit.edu	37	6	46129452	46129452	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr6:46129452G>A	ENST00000371383.2	-	5	1305	c.1045C>T	c.(1045-1047)Cat>Tat	p.H349Y	ENPP5_ENST00000230565.3_Missense_Mutation_p.H349Y					ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)											endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						AATATTGGATGCATATCTGCT	0.388																																						ENST00000371383.2																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						c.(1045-1047)Cat>Tat		ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)							230.0	244.0	239.0					6																	46129452		2203	4300	6503	SO:0001583	missense	59084					extracellular region|integral to membrane	hydrolase activity	g.chr6:46129452G>A	AL035701	CCDS4915.1	6p21.1-p11.2	2010-06-24	2010-06-24		ENSG00000112796	ENSG00000112796			13717	protein-coding gene	gene with protein product						11027689	Standard	XM_005249259		Approved		uc003oxz.1	Q9UJA9	OTTHUMG00000014781	ENST00000371383.2:c.1045C>T	6.37:g.46129452G>A	ENSP00000360436:p.His349Tyr					ENPP5_ENST00000230565.3_Missense_Mutation_p.H349Y	p.H349Y			Q9UJA9	ENPP5_HUMAN			5	1305	-			349						Missense_Mutation	SNP	ENST00000371383.2	37	c.1045C>T	CCDS4915.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.966086	0.92855	.	.	ENSG00000112796	ENST00000371383;ENST00000230565	T;T	0.75260	-0.92;-0.92	5.63	5.63	0.86233	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.185047	0.48286	D	0.000192	T	0.69646	0.3134	M	0.66939	2.045	0.49915	D	0.999836	P	0.42483	0.781	B	0.41466	0.358	T	0.75918	-0.3148	10	0.72032	D	0.01	-15.6285	17.8577	0.88771	0.0:0.0:1.0:0.0	.	349	Q9UJA9	ENPP5_HUMAN	Y	349	ENSP00000360436:H349Y;ENSP00000230565:H349Y	ENSP00000230565:H349Y	H	-	1	0	ENPP5	46237411	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.855000	0.92236	2.656000	0.90262	0.655000	0.94253	CAT		0.388	ENPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040779.2			84	172	0	0	0	1	0	84	172				
PARP11	57097	broad.mit.edu	37	12	3923277	3923277	+	Missense_Mutation	SNP	T	T	A			TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr12:3923277T>A	ENST00000228820.4	-	7	770	c.626A>T	c.(625-627)gAa>gTa	p.E209V	PARP11_ENST00000427057.2_Missense_Mutation_p.E128V|PARP11_ENST00000447133.3_Missense_Mutation_p.E128V|PARP11_ENST00000476985.1_5'UTR|PARP11_ENST00000397096.2_Missense_Mutation_p.E202V	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	202	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.						NAD+ ADP-ribosyltransferase activity (GO:0003950)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			TTCCACAAATTCACTGCTGGT	0.368																																						ENST00000228820.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17						c.(625-627)gAa>gTa		poly (ADP-ribose) polymerase family, member 11							149.0	141.0	144.0					12																	3923277		2203	4300	6503	SO:0001583	missense	57097						NAD+ ADP-ribosyltransferase activity	g.chr12:3923277T>A	AF263540	CCDS8523.2, CCDS66281.1	12p13.3	2014-01-28	2004-08-25	2004-08-26	ENSG00000111224	ENSG00000111224		"""Poly (ADP-ribose) polymerases"""	1186	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 6"""	C12orf6		15273990	Standard	NM_001286522		Approved		uc001qml.2	Q9NR21	OTTHUMG00000156442	ENST00000228820.4:c.626A>T	12.37:g.3923277T>A	ENSP00000228820:p.Glu209Val					PARP11_ENST00000476985.1_5'UTR|PARP11_ENST00000397096.2_Missense_Mutation_p.E202V|PARP11_ENST00000447133.3_Missense_Mutation_p.E128V|PARP11_ENST00000427057.2_Missense_Mutation_p.E128V	p.E209V	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)		7	770	-			202			PARP catalytic.		B4DRQ0|Q68DS1|Q8N5Y9	Missense_Mutation	SNP	ENST00000228820.4	37	c.626A>T	CCDS8523.2	.	.	.	.	.	.	.	.	.	.	T	13.68	2.308258	0.40895	.	.	ENSG00000111224	ENST00000397096;ENST00000427057;ENST00000228820;ENST00000447133	T;T;T;T	0.15718	2.4;2.4;2.4;2.4	5.41	5.41	0.78517	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.174859	0.56097	D	0.000040	T	0.12774	0.0310	L	0.31926	0.97	0.38990	D	0.959124	B;P;P	0.43826	0.243;0.782;0.818	B;B;B	0.39465	0.138;0.199;0.3	T	0.08868	-1.0701	10	0.32370	T	0.25	.	9.5081	0.39060	0.0:0.0:0.1775:0.8224	.	128;209;202	Q9NR21-2;Q9NR21-4;Q9NR21	.;.;PAR11_HUMAN	V	202;128;209;128	ENSP00000380284:E202V;ENSP00000397058:E128V;ENSP00000228820:E209V;ENSP00000405385:E128V	ENSP00000228820:E209V	E	-	2	0	PARP11	3793538	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.285000	0.58989	2.270000	0.75569	0.482000	0.46254	GAA		0.368	PARP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344213.1			8	55	0	0	0	1	0	8	55				
GOLGA6L7P	728310	broad.mit.edu	37	15	29092219	29092219	+	RNA	SNP	C	C	T	rs373223686		TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr15:29092219C>T	ENST00000569815.1	-	0	296					NR_047567.1				golgin A6 family-like 7, pseudogene																		CATCCTCAGGCGAGTGGCAGC	0.552																																						ENST00000569815.1																			0																																																			0							g.chr15:29092219C>T	AK302238		15q13.1	2012-10-05	2011-04-15	2010-04-20	ENSG00000261649	ENSG00000261649			37442	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 6-like 7 (pseudogene)"""	GOLGA6L7			Standard	NR_047567		Approved		uc010uar.2		OTTHUMG00000176345		15.37:g.29092219C>T								NR_047567.1						0	296	-									RNA	SNP	ENST00000569815.1	37																																																																																						0.552	GOLGA6L7P-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000431796.1	XR_078490		19	15	0	0	0	1	0	19	15				
DAAM2	23500	broad.mit.edu	37	6	39869131	39869131	+	Silent	SNP	C	C	T	rs368026649		TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr6:39869131C>T	ENST00000398904.2	+	24	3047	c.2865C>T	c.(2863-2865)gaC>gaT	p.D955D	DAAM2_ENST00000274867.4_Silent_p.D955D|RP11-61I13.3_ENST00000437947.1_RNA|DAAM2_ENST00000538976.1_Silent_p.D954D			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	955	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					TGCAGCCAGACGAATTCTTTG	0.577																																						ENST00000538976.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49						c.(2860-2862)gaC>gaT		dishevelled associated activator of morphogenesis 2							155.0	158.0	157.0					6																	39869131		2069	4207	6276	SO:0001819	synonymous_variant	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39869131C>T	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.2865C>T	6.37:g.39869131C>T						DAAM2_ENST00000398904.2_Silent_p.D955D|DAAM2_ENST00000274867.4_Silent_p.D955D	p.D954D	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN			24	3044	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		955			FH2.		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Silent	SNP	ENST00000398904.2	37	c.2862C>T	CCDS56426.1																																																																																				0.577	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			6	161	0	0	0	1	0	6	161				
ANGPT2	285	broad.mit.edu	37	8	6360776	6360776	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr8:6360776C>T	ENST00000325203.5	-	9	1811	c.1337G>A	c.(1336-1338)tGg>tAg	p.W446*	ANGPT2_ENST00000338312.6_Nonsense_Mutation_p.W394*|ANGPT2_ENST00000415216.1_Nonsense_Mutation_p.W445*|MCPH1_ENST00000344683.5_Intron			O15123	ANGP2_HUMAN	angiopoietin 2	446	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to growth factor stimulus (GO:0071363)|germ cell development (GO:0007281)|glomerulus vasculature development (GO:0072012)|leukocyte migration (GO:0050900)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of positive chemotaxis (GO:0050928)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to radiation (GO:0009314)|signal transduction (GO:0007165)|Tie signaling pathway (GO:0048014)	cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		TGCATCAAACCACCAGCCTGT	0.468																																						ENST00000325203.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1336-1338)tGg>tAg		angiopoietin 2							147.0	122.0	131.0					8																	6360776		2203	4300	6503	SO:0001587	stop_gained	285				angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding	g.chr8:6360776C>T	AF004327	CCDS5958.1, CCDS47761.1	8p23	2013-02-06			ENSG00000091879	ENSG00000091879		"""Fibrinogen C domain containing"""	485	protein-coding gene	gene with protein product		601922				9545648	Standard	NM_001147		Approved	Ang2	uc003wqj.4	O15123	OTTHUMG00000090365	ENST00000325203.5:c.1337G>A	8.37:g.6360776C>T	ENSP00000314897:p.Trp446*					ANGPT2_ENST00000415216.1_Nonsense_Mutation_p.W445*|MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000338312.6_Nonsense_Mutation_p.W394*	p.W446*			O15123	ANGP2_HUMAN		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)	9	1811	-		Hepatocellular(245;0.0663)	446			Fibrinogen C-terminal.		A0AV38|A8K205|B7ZLM7|Q9NRR7|Q9P2Y7	Nonsense_Mutation	SNP	ENST00000325203.5	37	c.1337G>A	CCDS5958.1	.	.	.	.	.	.	.	.	.	.	C	41	8.583948	0.98872	.	.	ENSG00000091879	ENST00000325203;ENST00000415216;ENST00000338312	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.0718	0.89410	0.0:1.0:0.0:0.0	.	.	.	.	X	446;445;394	.	ENSP00000314897:W446X	W	-	2	0	ANGPT2	6348184	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.600000	0.82769	2.941000	0.99782	0.655000	0.94253	TGG		0.468	ANGPT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206737.1	NM_001147		9	92	0	0	0	1	0	9	92				
CEP120	153241	broad.mit.edu	37	5	122682431	122682431	+	Missense_Mutation	SNP	G	G	C			TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr5:122682431G>C	ENST00000306467.5	-	20	3047	c.2743C>G	c.(2743-2745)Caa>Gaa	p.Q915E	CEP120_ENST00000328236.5_Missense_Mutation_p.Q915E|CEP120_ENST00000306481.6_Missense_Mutation_p.Q889E			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	915					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						TATTGTTTTTGCTCTTGTTGC	0.393																																						ENST00000306467.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(2743-2745)Caa>Gaa		centrosomal protein 120kDa							107.0	115.0	112.0					5																	122682431		2203	4300	6503	SO:0001583	missense	153241					centrosome		g.chr5:122682431G>C	AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"""coiled-coil domain containing 100"""	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.2743C>G	5.37:g.122682431G>C	ENSP00000303058:p.Gln915Glu					CEP120_ENST00000306481.6_Missense_Mutation_p.Q889E|CEP120_ENST00000328236.5_Missense_Mutation_p.Q915E	p.Q915E			Q8N960	CE120_HUMAN			20	3047	-			915					Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	ENST00000306467.5	37	c.2743C>G	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	G	0.690	-0.794784	0.02862	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481	T;T;T	0.20881	2.04;2.04;2.04	5.76	3.65	0.41850	.	0.412335	0.18886	U	0.128423	T	0.06462	0.0166	N	0.02011	-0.69	0.45528	D	0.99848	B	0.02656	0.0	B	0.04013	0.001	T	0.21008	-1.0258	10	0.02654	T	1	-5.716	9.6184	0.39706	0.0839:0.3866:0.5295:0.0	.	915	Q8N960	CE120_HUMAN	E	915;915;889	ENSP00000303058:Q915E;ENSP00000327504:Q915E;ENSP00000307419:Q889E	ENSP00000303058:Q915E	Q	-	1	0	CEP120	122710330	0.992000	0.36948	0.990000	0.47175	0.966000	0.64601	2.489000	0.45285	1.431000	0.47355	0.655000	0.94253	CAA		0.393	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	NM_153223		30	44	0	0	0	1	0	30	44				
VWA3B	200403	broad.mit.edu	37	2	98844684	98844684	+	Missense_Mutation	SNP	T	T	C			TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr2:98844684T>C	ENST00000477737.1	+	15	2243	c.2039T>C	c.(2038-2040)tTa>tCa	p.L680S		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	680	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.									NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CTGACTCTTTTAGTTAAGGAA	0.368																																						ENST00000477737.1																			0				NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(2038-2040)tTa>tCa		von Willebrand factor A domain containing 3B							101.0	100.0	100.0					2																	98844684		1930	4134	6064	SO:0001583	missense	200403							g.chr2:98844684T>C	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.2039T>C	2.37:g.98844684T>C	ENSP00000417955:p.Leu680Ser						p.L680S	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN			15	2243	+			680			VWFA.		B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.2039T>C	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	T	14.68	2.608108	0.46527	.	.	ENSG00000168658	ENST00000477737	T	0.12361	2.69	5.8	5.8	0.92144	von Willebrand factor, type A (1);	0.118324	0.34156	N	0.004206	T	0.36771	0.0979	M	0.82056	2.57	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.995	D;D;D;D	0.91635	0.999;0.993;0.997;0.909	T	0.23976	-1.0173	10	0.87932	D	0	.	8.6151	0.33826	0.0:0.0847:0.0:0.9153	.	72;680;680;680	Q502W6-5;Q502W6;Q502W6-8;Q502W6-6	.;VWA3B_HUMAN;.;.	S	680	ENSP00000417955:L680S	ENSP00000417955:L680S	L	+	2	0	VWA3B	98211116	0.998000	0.40836	0.404000	0.26397	0.490000	0.33462	4.388000	0.59633	2.211000	0.71520	0.383000	0.25322	TTA		0.368	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		29	45	0	0	0	1	0	29	45				
BMS1P20	96610	broad.mit.edu	37	22	22661272	22661272	+	RNA	SNP	C	C	T			TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr22:22661272C>T	ENST00000426066.1	+	0	360					NR_027293.1				BMS1 pseudogene 20																		CTGGGATGTACGTCTGCGTTG	0.488																																						ENST00000426066.1																			0																																																			0							g.chr22:22661272C>T			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661272C>T								NR_027293.1						0	360	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.488	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	50	0	0	0	1	0	3	50				
ADAM21P1	145241	broad.mit.edu	37	14	70713782	70713782	+	RNA	SNP	A	A	G	rs200469187		TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr14:70713782A>G	ENST00000530196.1	-	0	736					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		GTCACCAGCAAATTTTGGTTC	0.443																																						ENST00000530196.1																			0																																																			0							g.chr14:70713782A>G			14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70713782A>G								NR_003951.1						0	736	-									RNA	SNP	ENST00000530196.1	37																																																																																						0.443	ADAM21P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390451.1	NG_002467		6	73	0	0	0	1	0	6	73				
DYM	54808	broad.mit.edu	37	18	46783426	46783426	+	Missense_Mutation	SNP	C	C	T			TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr18:46783426C>T	ENST00000269445.6	-	13	1871	c.1414G>A	c.(1414-1416)Gca>Aca	p.A472T	DYM_ENST00000442713.2_Missense_Mutation_p.A282T	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	472					bone development (GO:0060348)|Golgi organization (GO:0007030)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	enzyme binding (GO:0019899)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						CGAAACTGTGCCGACATATTT	0.393																																						ENST00000269445.6																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						c.(1414-1416)Gca>Aca		dymeclin							144.0	114.0	124.0					18																	46783426		2203	4300	6503	SO:0001583	missense	54808					Golgi apparatus		g.chr18:46783426C>T	AK000078	CCDS11937.1	18q21.1	2008-03-12			ENSG00000141627	ENSG00000141627			21317	protein-coding gene	gene with protein product		607461					Standard	NM_017653		Approved	FLJ20071, DMC, SMC	uc002ldi.1	Q7RTS9	OTTHUMG00000132659	ENST00000269445.6:c.1414G>A	18.37:g.46783426C>T	ENSP00000269445:p.Ala472Thr					DYM_ENST00000442713.2_Missense_Mutation_p.A282T	p.A472T	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN			13	1871	-			472					A8K5I8|B2RCF9|B4DKI7|Q3ZTS8|Q6P2P5|Q8N2M0|Q9BVE9|Q9NPU7	Missense_Mutation	SNP	ENST00000269445.6	37	c.1414G>A	CCDS11937.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.867280	0.91511	.	.	ENSG00000141627	ENST00000418472;ENST00000442713;ENST00000269445	D;D	0.82984	-1.67;-1.67	5.54	4.66	0.58398	.	0.000000	0.85682	D	0.000000	D	0.90191	0.6934	M	0.77103	2.36	0.80722	D	1	P;D;P;P	0.67145	0.872;0.996;0.892;0.885	P;D;P;P	0.67382	0.495;0.951;0.61;0.589	D	0.91285	0.5054	10	0.72032	D	0.01	-11.3633	14.5907	0.68362	0.1476:0.8524:0.0:0.0	.	282;26;294;472	Q7RTS9-2;A5XEI3;Q9NXS9;Q7RTS9	.;.;.;DYM_HUMAN	T	77;282;472	ENSP00000395942:A282T;ENSP00000269445:A472T	ENSP00000269445:A472T	A	-	1	0	DYM	45037424	1.000000	0.71417	0.726000	0.30738	0.956000	0.61745	5.647000	0.67923	1.312000	0.45043	0.655000	0.94253	GCA		0.393	DYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255912.3	NM_017653		27	34	0	0	0	1	0	27	34				
DBX2	440097	broad.mit.edu	37	12	45417627	45417627	+	Missense_Mutation	SNP	G	G	A	rs368330243	byFrequency	TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr12:45417627G>A	ENST00000332700.6	-	3	721	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	184					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		ATGCCCCTCCGAGCTTTGGAA	0.433													G|||	4	0.000798722	0.0023	0.0	5008	,	,		19077	0.001		0.0	False		,,,				2504	0.0					ENST00000332700.6																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(550-552)Cgg>Tgg		developing brain homeobox 2		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	64.0	68.0	66.0		550	4.6	1.0	12		66	0,8600		0,0,4300	no	missense	DBX2	NM_001004329.2	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	184/340	45417627	1,13005	2203	4300	6503	SO:0001583	missense	440097					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:45417627G>A		CCDS31781.1	12q12	2011-06-20				ENSG00000185610		"""Homeoboxes / ANTP class : NKL subclass"""	33186	protein-coding gene	gene with protein product						11239429	Standard	NM_001004329		Approved	FLJ16139	uc001rok.1	Q6ZNG2	OTTHUMG00000169559	ENST00000332700.6:c.550C>T	12.37:g.45417627G>A	ENSP00000331470:p.Arg184Trp						p.R184W	NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN		GBM - Glioblastoma multiforme(48;0.0515)	3	721	-	Lung SC(27;0.192)	Lung NSC(34;0.142)	184						Missense_Mutation	SNP	ENST00000332700.6	37	c.550C>T	CCDS31781.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.919983	0.73098	2.27E-4	0.0	ENSG00000185610	ENST00000332700	D	0.95853	-3.83	5.49	4.59	0.56863	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.114269	0.39985	N	0.001202	D	0.95784	0.8628	L	0.32530	0.975	0.54753	D	0.999982	D	0.89917	1.0	D	0.78314	0.991	D	0.96199	0.9144	10	0.87932	D	0	-18.5997	13.5055	0.61481	0.0:0.0:0.7159:0.2841	.	184	Q6ZNG2	DBX2_HUMAN	W	184	ENSP00000331470:R184W	ENSP00000331470:R184W	R	-	1	2	DBX2	43703894	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	3.167000	0.50793	1.318000	0.45170	-0.152000	0.13540	CGG		0.433	DBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404810.1	NM_001004329		7	70	0	0	0	1	0	7	70				
TTLL6	284076	broad.mit.edu	37	17	46862423	46862423	+	Silent	SNP	C	C	T	rs200226705		TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr17:46862423C>T	ENST00000393382.3	-	13	2043	c.1902G>A	c.(1900-1902)acG>acA	p.T634T	TTLL6_ENST00000433608.2_Silent_p.T327T	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GCTTCGCAGACGTCAGCTTGG	0.527																																						ENST00000393382.3																			0				endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						c.(1900-1902)acG>acA		tubulin tyrosine ligase-like family, member 6							152.0	153.0	153.0					17																	46862423		2203	4300	6503	SO:0001819	synonymous_variant	284076					cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr17:46862423C>T	AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"""Tubulin tyrosine ligase-like family"""	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.1902G>A	17.37:g.46862423C>T						TTLL6_ENST00000433608.2_Silent_p.T327T	p.T634T	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN			13	2043	-			586						Silent	SNP	ENST00000393382.3	37	c.1902G>A	CCDS45724.1																																																																																				0.527	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	NM_173623		4	108	0	0	0	1	0	4	108				
FRG1B	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	101								p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.S101N(2)	prostate(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(301-303)aGt>aAt																																						SO:0001583	missense	0							g.chr20:29628300G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.302G>A	20.37:g.29628300G>A	ENSP00000278882:p.Ser101Asn					FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N	p.S101N							6	682	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.302G>A		.	.	.	.	.	.	.	.	.	.	g	10.56	1.384968	0.25031	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.125588	0.64402	N	0.000001	T	0.33265	0.0857	.	.	.	0.40357	D	0.979199	B;B	0.16802	0.003;0.019	B;B	0.16289	0.007;0.015	T	0.20605	-1.0270	9	0.33940	T	0.23	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	106;101	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	N	101;106;101	ENSP00000408863:S106N	ENSP00000278882:S101N	S	+	2	0	FRG1B	28241961	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.004000	0.40854	1.475000	0.48197	0.423000	0.28283	AGT		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	58	0	0	0	1	0	5	58				
SLC22A9	114571	broad.mit.edu	37	11	63176239	63176239	+	Silent	SNP	C	C	T			TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr11:63176239C>T	ENST00000279178.3	+	9	1738	c.1489C>T	c.(1489-1491)Ctg>Ttg	p.L497L	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	497					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						TTCTCCACCCCTGCCCTGGAT	0.507																																						ENST00000279178.3																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						c.(1489-1491)Ctg>Ttg		solute carrier family 22 (organic anion transporter), member 9							149.0	133.0	138.0					11																	63176239		2201	4298	6499	SO:0001819	synonymous_variant	114571				transmembrane transport	integral to membrane		g.chr11:63176239C>T	AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"""Solute carriers"""	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.1489C>T	11.37:g.63176239C>T						SLC22A9_ENST00000310969.4_3'UTR	p.L497L	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN			9	1738	+			497					A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Silent	SNP	ENST00000279178.3	37	c.1489C>T	CCDS8043.1																																																																																				0.507	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396371.1	NM_080866		23	41	0	0	0	1	0	23	41				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	49	0	0	0	1	0	4	49				
PIK3R3	8503	broad.mit.edu	37	1	46546396	46546396	+	Missense_Mutation	SNP	T	T	C			TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr1:46546396T>C	ENST00000262741.5	-	2	822	c.133A>G	c.(133-135)Atg>Gtg	p.M45V	PIK3R3_ENST00000354242.4_Missense_Mutation_p.M45V|PIK3R3_ENST00000423209.1_Missense_Mutation_p.M45V|PIK3R3_ENST00000372006.1_Missense_Mutation_p.M45V|PIK3R3_ENST00000340332.6_Intron|PIK3R3_ENST00000420542.1_Missense_Mutation_p.M45V|PIK3R3_ENST00000540385.1_Missense_Mutation_p.M91V	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	45					insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)				Isoprenaline(DB01064)	GCTGAAGTCATTGGCTTAGGT	0.403																																						ENST00000262741.5																			0				endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14						c.(133-135)Atg>Gtg		phosphoinositide-3-kinase, regulatory subunit 3 (gamma)							237.0	249.0	245.0					1																	46546396		2203	4300	6503	SO:0001583	missense	8503				insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding	g.chr1:46546396T>C	BC021622	CCDS529.1	1p34.1	2013-02-14	2008-02-04		ENSG00000117461	ENSG00000117461		"""SH2 domain containing"""	8981	protein-coding gene	gene with protein product		606076				9524259	Standard	NM_003629		Approved	p55	uc001cpb.4	Q92569	OTTHUMG00000008096	ENST00000262741.5:c.133A>G	1.37:g.46546396T>C	ENSP00000262741:p.Met45Val					PIK3R3_ENST00000423209.1_Missense_Mutation_p.M45V|PIK3R3_ENST00000372006.1_Missense_Mutation_p.M45V|PIK3R3_ENST00000420542.1_Missense_Mutation_p.M45V|PIK3R3_ENST00000354242.4_Missense_Mutation_p.M45V|PIK3R3_ENST00000340332.6_Intron|PIK3R3_ENST00000540385.1_Missense_Mutation_p.M91V	p.M45V	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN			2	822	-	Acute lymphoblastic leukemia(166;0.155)		45					B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2	Missense_Mutation	SNP	ENST00000262741.5	37	c.133A>G	CCDS529.1	.	.	.	.	.	.	.	.	.	.	T	7.033	0.561044	0.13498	.	.	ENSG00000117461	ENST00000372006;ENST00000262741;ENST00000420542;ENST00000354242;ENST00000540385;ENST00000423209;ENST00000425892	T;T;T;T;T;T;T	0.79845	-1.15;-1.15;-1.15;-1.31;-1.15;-1.31;1.13	5.07	-0.627	0.11541	.	0.219989	0.51477	N	0.000090	T	0.65606	0.2707	L	0.47716	1.5	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.0;0.0	T	0.48559	-0.9025	10	0.09084	T	0.74	.	6.3609	0.21427	0.0:0.2216:0.122:0.6564	.	91;78;45;45	F6TDL0;Q7Z3W2;Q92569-2;Q92569	.;.;.;P55G_HUMAN	V	45;45;45;45;91;45;45	ENSP00000361075:M45V;ENSP00000262741:M45V;ENSP00000412546:M45V;ENSP00000346188:M45V;ENSP00000439913:M91V;ENSP00000391431:M45V;ENSP00000416647:M45V	ENSP00000262741:M45V	M	-	1	0	PIK3R3	46318983	0.978000	0.34361	0.999000	0.59377	0.995000	0.86356	0.099000	0.15210	0.014000	0.14944	0.383000	0.25322	ATG		0.403	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022171.1	NM_003629		7	252	0	0	0	1	0	7	252				
HNRNPH1	3187	broad.mit.edu	37	5	179043911	179043911	+	Missense_Mutation	SNP	C	C	T			TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr5:179043911C>T	ENST00000356731.5	-	10	2701	c.1166G>A	c.(1165-1167)gGt>gAt	p.G389D	HNRNPH1_ENST00000393432.4_Missense_Mutation_p.G389D|HNRNPH1_ENST00000511300.2_Intron|HNRNPH1_ENST00000442819.2_Missense_Mutation_p.G389D|HNRNPH1_ENST00000510411.1_Intron|HNRNPH1_ENST00000329433.6_Missense_Mutation_p.G389D|HNRNPH1_ENST00000524180.1_5'Flank			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	389	2 X 16 AA Gly-rich approximate repeats.|2 X 19 AA perfect repeats.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						ATAAGCACCACCGCTTGCTCC	0.353																																						ENST00000356731.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						c.(1165-1167)gGt>gAt		heterogeneous nuclear ribonucleoprotein H1 (H)							107.0	105.0	106.0					5																	179043911		2203	4300	6503	SO:0001583	missense	3187				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding	g.chr5:179043911C>T	BC001348	CCDS4446.1	5q35.3	2013-02-12		2008-04-18	ENSG00000169045	ENSG00000169045		"""RNA binding motif (RRM) containing"""	5041	protein-coding gene	gene with protein product		601035		HNRPH1		7499401	Standard	NM_005520		Approved	hnRNPH	uc003mkf.5	P31943	OTTHUMG00000130908	ENST00000356731.5:c.1166G>A	5.37:g.179043911C>T	ENSP00000349168:p.Gly389Asp					HNRNPH1_ENST00000511300.2_Intron|HNRNPH1_ENST00000510411.1_Intron|HNRNPH1_ENST00000442819.2_Missense_Mutation_p.G389D|HNRNPH1_ENST00000393432.4_Missense_Mutation_p.G389D|HNRNPH1_ENST00000329433.6_Missense_Mutation_p.G389D	p.G389D			P31943	HNRH1_HUMAN			10	2701	-			389			2 X 16 AA Gly-rich approximate repeats.|2 X 19 AA perfect repeats.		B3KW86|D3DWQ2|Q6IBM4	Missense_Mutation	SNP	ENST00000356731.5	37	c.1166G>A	CCDS4446.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	16.14|16.14	3.038742|3.038742	0.55003|0.55003	.|.	.|.	ENSG00000169045|ENSG00000169045	ENST00000393432;ENST00000442819;ENST00000356731;ENST00000329433;ENST00000523921|ENST00000521173	T;T;T;T;T|.	0.11385|.	2.78;2.78;2.78;2.78;2.78|.	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	0.000000|.	0.64402|.	D|.	0.000016|.	T|T	0.58438|0.58438	0.2122|0.2122	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	P|.	0.37423|.	0.594|.	B|.	0.30316|.	0.114|.	T|T	0.50709|0.50709	-0.8796|-0.8796	10|5	0.36615|.	T|.	0.2|.	-4.0964|-4.0964	20.13|20.13	0.97997|0.97997	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	389|.	P31943|.	HNRH1_HUMAN|.	D|M	389;389;389;389;183|264	ENSP00000377082:G389D;ENSP00000397797:G389D;ENSP00000349168:G389D;ENSP00000327539:G389D;ENSP00000429270:G183D|.	ENSP00000327539:G389D|.	G|V	-|-	2|1	0|0	HNRNPH1|HNRNPH1	178976517|178976517	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.499000|4.499000	0.60380|0.60380	2.751000|2.751000	0.94390|0.94390	0.650000|0.650000	0.86243|0.86243	GGT|GTG		0.353	HNRNPH1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253497.3	NM_005520		25	101	0	0	0	1	0	25	101				
RP11-252A24.2	0	broad.mit.edu	37	16	74394379	74394380	+	RNA	INS	-	-	A	rs142790741	byFrequency	TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr16:74394379_74394380insA	ENST00000429810.2	-	0	435																											TAGTCATCCTTAAACAAAATTC	0.347													|||unknown(NO_COVERAGE)	1085	0.216653	0.2474	0.1888	5008	,	,		27432	0.1379		0.2604	False		,,,				2504	0.2311					ENST00000429810.2																			0																																																			0							g.chr16:74394379_74394380insA																													16.37:g.74394382_74394382dupA														0	435	-									RNA	INS	ENST00000429810.2	37																																																																																						0.347	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			4	4						4	4	---	---	---	---
