#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
TOX	9760	broad.mit.edu	37	8	59728152	59728152	+	Silent	SNP	C	C	T			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr8:59728152C>T	ENST00000361421.1	-	7	1357	c.1137G>A	c.(1135-1137)ccG>ccA	p.P379P	RNU4-50P_ENST00000364361.1_RNA	NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	379						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				GATTCATTCCCGGTTGTTGGT	0.537																																					Pancreas(161;610 1969 17913 21374 22725)	ENST00000361421.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33						c.(1135-1137)ccG>ccA		thymocyte selection-associated high mobility group box							161.0	149.0	153.0					8																	59728152		2203	4300	6503	SO:0001819	synonymous_variant	9760					nucleus	DNA binding	g.chr8:59728152C>T		CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.1137G>A	8.37:g.59728152C>T							p.P379P	NM_014729.2	NP_055544.1	O94900	TOX_HUMAN			7	1357	-		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)	379					Q96AV5	Silent	SNP	ENST00000361421.1	37	c.1137G>A	CCDS34897.1																																																																																				0.537	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1	NM_014729		4	59	0	0	0	1	0	4	59				
BRD3	8019	broad.mit.edu	37	9	136915560	136915560	+	Missense_Mutation	SNP	G	G	A	rs146285241|rs200754629		TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr9:136915560G>A	ENST00000303407.7	-	5	835	c.650C>T	c.(649-651)gCc>gTc	p.A217V	BRD3_ENST00000357885.2_Missense_Mutation_p.A217V|BRD3_ENST00000371834.2_Missense_Mutation_p.A217V	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	217					chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		AGGTGGGGCGGCAGCTGGGGG	0.682			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000303407.7				Dom	yes		9	9q34	8019	T	bromodomain containing 3			E	C15orf55		lethal midline carcinoma of young people	BRD3/C15orf55(3)	0				kidney(1)|skin(1)|stomach(4)	6						c.(649-651)gCc>gTc		bromodomain containing 3							55.0	62.0	60.0					9																	136915560		2203	4300	6503	SO:0001583	missense	8019					nucleus	protein binding	g.chr9:136915560G>A		CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"""RING3-like"""	601541	"""bromodomain-containing 3"""			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.650C>T	9.37:g.136915560G>A	ENSP00000305918:p.Ala217Val					BRD3_ENST00000357885.2_Missense_Mutation_p.A217V|BRD3_ENST00000371834.2_Missense_Mutation_p.A217V	p.A217V	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)	5	835	-			217					B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Missense_Mutation	SNP	ENST00000303407.7	37	c.650C>T	CCDS6980.1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.866916	0.32977	.	.	ENSG00000169925	ENST00000303407;ENST00000371834;ENST00000357885	T;T;T	0.30714	1.52;1.52;1.52	4.88	3.96	0.45880	.	0.147080	0.45126	D	0.000389	T	0.18593	0.0446	N	0.17082	0.46	0.52099	D	0.999943	B;B	0.24426	0.103;0.0	B;B	0.28011	0.085;0.001	T	0.06127	-1.0844	10	0.28530	T	0.3	-9.6547	9.714	0.40263	0.1663:0.0:0.8337:0.0	.	217;217	Q15059-2;Q15059	.;BRD3_HUMAN	V	217	ENSP00000305918:A217V;ENSP00000360900:A217V;ENSP00000350557:A217V	ENSP00000305918:A217V	A	-	2	0	BRD3	135905381	0.997000	0.39634	0.175000	0.22980	0.784000	0.44337	3.159000	0.50731	2.404000	0.81709	0.491000	0.48974	GCC		0.682	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	NM_007371		4	111	0	0	0	1	0	4	111				
TRIM8	81603	broad.mit.edu	37	10	104414839	104414839	+	Silent	SNP	G	G	A			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr10:104414839G>A	ENST00000302424.7	+	3	791	c.669G>A	c.(667-669)gaG>gaA	p.E223E	TRIM8_ENST00000487927.1_3'UTR	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	223					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|PML body (GO:0016605)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		ACTCGCAGGAGAAAGTGAACC	0.562																																						ENST00000302424.6																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(667-669)gaG>gaA		tripartite motif containing 8							43.0	39.0	40.0					10																	104414839		2203	4300	6503	SO:0001819	synonymous_variant	81603					cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding	g.chr10:104414839G>A	AF281046	CCDS31274.1	10q24.3	2013-01-09	2011-01-25	2002-06-14	ENSG00000171206	ENSG00000171206		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15579	protein-coding gene	gene with protein product	"""glioblastoma expressed ring finger protein"""	606125	"""ring finger protein 27"", ""tripartite motif-containing 8"""	RNF27		11118312, 12163497	Standard	NM_030912		Approved	GERP	uc001kvz.2	Q9BZR9	OTTHUMG00000018964	ENST00000302424.7:c.669G>A	10.37:g.104414839G>A						TRIM8_ENST00000487927.1_3'UTR	p.E223E	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	3	791	+		Colorectal(252;0.122)	223					A6NI31|Q9C028	Silent	SNP	ENST00000302424.7	37	c.669G>A	CCDS31274.1																																																																																				0.562	TRIM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050084.3	NM_030912		5	38	0	0	0	1	0	5	38				
ZNF608	57507	broad.mit.edu	37	5	124036776	124036776	+	Missense_Mutation	SNP	A	A	T	rs558119594		TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr5:124036776A>T	ENST00000306315.5	-	2	1528	c.1093T>A	c.(1093-1095)Tgt>Agt	p.C365S	ZNF608_ENST00000504926.1_5'UTR	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	365							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GGCCCAAGACACTCTGGCTCT	0.443																																						ENST00000306315.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(1093-1095)Tgt>Agt		zinc finger protein 608							114.0	107.0	109.0					5																	124036776		2203	4300	6503	SO:0001583	missense	57507					intracellular	zinc ion binding	g.chr5:124036776A>T	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.1093T>A	5.37:g.124036776A>T	ENSP00000307746:p.Cys365Ser					ZNF608_ENST00000504926.1_5'UTR	p.C365S	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	2	1528	-		all_cancers(142;0.186)|Prostate(80;0.081)	365					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	c.1093T>A	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.857084	0.91433	.	.	ENSG00000168916	ENST00000306315;ENST00000509799;ENST00000513986	T	0.54071	0.59	5.93	5.93	0.95920	.	0.060137	0.64402	D	0.000002	T	0.68988	0.3061	L	0.53249	1.67	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.69760	-0.5058	10	0.54805	T	0.06	-12.3798	16.3943	0.83563	1.0:0.0:0.0:0.0	.	365	Q9ULD9	ZN608_HUMAN	S	365	ENSP00000307746:C365S	ENSP00000307746:C365S	C	-	1	0	ZNF608	124064675	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.932000	0.92897	2.281000	0.76405	0.533000	0.62120	TGT		0.443	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		9	73	0	0	0	1	0	9	73				
AGAP10	728127	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	T	C	rs202014361	byFrequency	TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr10:47207813T>C	ENST00000452145.2	-	4	506	c.395A>G	c.(394-396)cAt>cGt	p.H132R	AGAP10_ENST00000355232.3_Splice_Site_p.H157R|AGAP10_ENST00000413193.2_Splice_Site_p.H228R|RP11-144G6.12_ENST00000605970.1_RNA			Q5T2P9	AGA10_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 10	132					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.H228R(20)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TTTACTTACATGGTTTGTACA	0.294																																						ENST00000355232.3																			20	Substitution - Missense(20)	p.H228R(20)	endometrium(10)|prostate(4)|kidney(4)|urinary_tract(2)	endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						c.e5+1		ArfGAP with GTPase domain, ankyrin repeat and PH domain 10																																				SO:0001630	splice_region_variant	728127							g.chr10:47207813T>C	BC075841		10q11.22	2013-01-11	2008-09-22	2008-09-22	ENSG00000204172	ENSG00000204172		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23462	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 7"""	CTGLF7			Standard	XM_006709937		Approved	bA144G6.2		Q5T2P9	OTTHUMG00000018115	ENST00000452145.2:c.396+1A>G	10.37:g.47207813T>C						RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice	p.H157_splice							5	3482	-									Splice_Site	SNP	ENST00000452145.2	37	c.471_splice		.	.	.	.	.	.	.	.	.	.	t	0.012	-1.675265	0.00751	.	.	ENSG00000204172	ENST00000452145;ENST00000413193;ENST00000355232	D;T;D	0.87966	-2.32;2.68;-2.32	1.4	1.4	0.22301	.	0.264128	0.34555	N	0.003879	T	0.72486	0.3466	.	.	.	0.20764	N	0.999856	B	0.22003	0.063	B	0.19666	0.026	T	0.55471	-0.8136	9	0.16896	T	0.51	.	6.9024	0.24291	0.0:0.0:0.0:1.0	.	132	Q5T2P9	AGA10_HUMAN	R	132;228;157	ENSP00000392206:H132R;ENSP00000407436:H228R;ENSP00000347372:H157R	ENSP00000347372:H157R	H	-	2	0	AGAP10	46627819	1.000000	0.71417	1.000000	0.80357	0.105000	0.19272	3.704000	0.54815	0.898000	0.36418	0.163000	0.16589	CAT		0.294	AGAP10-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000047845.2	XM_001714786.2	Missense_Mutation	3	47	0	0	0	1	0	3	47				
CTCF	10664	broad.mit.edu	37	16	67654616	67654616	+	Missense_Mutation	SNP	G	G	A			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr16:67654616G>A	ENST00000264010.4	+	6	1547	c.1103G>A	c.(1102-1104)cGt>cAt	p.R368H	CTCF_ENST00000401394.1_Missense_Mutation_p.R40H	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	368					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|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 negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R368H(1)		breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		AAATTAAAACGTCACATTCGC	0.438																																					Colon(175;1200 1966 6945 23069 27405)	ENST00000264010.4																			1	Substitution - Missense(1)	p.R368H(1)	ovary(1)	breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79						c.(1102-1104)cGt>cAt		CCCTC-binding factor (zinc finger protein)							163.0	132.0	143.0					16																	67654616		2198	4300	6498	SO:0001583	missense	10664				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:67654616G>A	U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.1103G>A	16.37:g.67654616G>A	ENSP00000264010:p.Arg368His					CTCF_ENST00000401394.1_Missense_Mutation_p.R40H	p.R368H	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)	6	1547	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	368					B5MC38|Q53XI7|Q59EL8	Missense_Mutation	SNP	ENST00000264010.4	37	c.1103G>A	CCDS10841.1	.	.	.	.	.	.	.	.	.	.	G	36	5.835727	0.97003	.	.	ENSG00000102974	ENST00000264010;ENST00000401394	T;T	0.26810	1.71;1.71	6.06	6.06	0.98353	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000002	T	0.54303	0.1850	M	0.69523	2.12	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.48937	-0.8990	10	0.56958	D	0.05	-2.8807	20.6208	0.99490	0.0:0.0:1.0:0.0	.	368	P49711	CTCF_HUMAN	H	368;40	ENSP00000264010:R368H;ENSP00000384707:R40H	ENSP00000264010:R368H	R	+	2	0	CTCF	66212117	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.882000	0.98803	0.655000	0.94253	CGT		0.438	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565		5	104	0	0	0	1	0	5	104				
CCNK	8812	broad.mit.edu	37	14	99961911	99961911	+	Missense_Mutation	SNP	C	C	T			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr14:99961911C>T	ENST00000389879.5	+	4	479	c.356C>T	c.(355-357)aCa>aTa	p.T119I	CCNK_ENST00000555049.1_Missense_Mutation_p.T119I|CCNK_ENST00000557165.1_3'UTR	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN	cyclin K	119					cellular response to DNA damage stimulus (GO:0006974)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of cell cycle arrest (GO:0071157)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cyclin K-CDK12 complex (GO:0002944)|cyclin K-CDK13 complex (GO:0002945)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				ATCATCAAAACAGCTCGTAGT	0.378																																						ENST00000389879.5																			0				NS(1)|endometrium(2)|lung(3)	6						c.(355-357)aCa>aTa		cyclin K							142.0	138.0	140.0					14																	99961911		1835	4092	5927	SO:0001583	missense	8812				cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein kinase binding	g.chr14:99961911C>T	AF060515	CCDS45160.1	14q32.2	2014-07-03			ENSG00000090061	ENSG00000090061			1596	protein-coding gene	gene with protein product		603544				9632813, 10574912	Standard	NM_001099402		Approved	CPR4	uc001ygi.4	O75909	OTTHUMG00000171495	ENST00000389879.5:c.356C>T	14.37:g.99961911C>T	ENSP00000374529:p.Thr119Ile					CCNK_ENST00000557165.1_3'UTR|CCNK_ENST00000555049.1_Missense_Mutation_p.T119I	p.T119I	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN			4	479	+		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)	119					Q59FT6|Q86U16|Q96B63|Q9NNY9	Missense_Mutation	SNP	ENST00000389879.5	37	c.356C>T	CCDS45160.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086914	0.76642	.	.	ENSG00000090061	ENST00000437596;ENST00000216279;ENST00000380246;ENST00000389879;ENST00000557441;ENST00000555049	T;T;T	0.08896	3.04;3.04;3.04	6.14	6.14	0.99180	Cyclin, N-terminal (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.21387	0.0515	L	0.35854	1.095	0.80722	D	1	P;B	0.41929	0.765;0.307	P;P	0.59056	0.851;0.511	T	0.00078	-1.2114	10	0.36615	T	0.2	-21.9794	20.8597	0.99761	0.0:1.0:0.0:0.0	.	119;119	O75909;O75909-2	CCNK_HUMAN;.	I	119	ENSP00000374529:T119I;ENSP00000450792:T119I;ENSP00000452307:T119I	ENSP00000216279:T119I	T	+	2	0	CCNK	99031664	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.666000	0.83877	2.937000	0.99478	0.650000	0.86243	ACA		0.378	CCNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413721.1			11	79	0	0	0	1	0	11	79				
DMRTC2	63946	broad.mit.edu	37	19	42351581	42351581	+	Missense_Mutation	SNP	G	G	C			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr19:42351581G>C	ENST00000269945.3	+	2	136	c.85G>C	c.(85-87)Gag>Cag	p.E29Q	LYPD4_ENST00000601246.1_5'Flank|DMRTC2_ENST00000596827.1_Missense_Mutation_p.E29Q|LYPD4_ENST00000330743.3_5'Flank|DMRTC2_ENST00000602098.1_3'UTR	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	29					male meiosis I (GO:0007141)|positive regulation of histone H3-K9 dimethylation (GO:1900111)|positive regulation of histone H3-K9 trimethylation (GO:1900114)|sex differentiation (GO:0007548)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|XY body (GO:0001741)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						CCAGAGCACAGAGCTGATCCC	0.637																																						ENST00000269945.3																			0				endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						c.(85-87)Gag>Cag		DMRT-like family C2							81.0	81.0	81.0					19																	42351581		2203	4300	6503	SO:0001583	missense	63946				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr19:42351581G>C	AJ291669	CCDS33034.1	19q13.2	2008-07-16				ENSG00000142025			13911	protein-coding gene	gene with protein product		614806				11863363	Standard	NM_001040283		Approved		uc002ors.3	Q8IXT2		ENST00000269945.3:c.85G>C	19.37:g.42351581G>C	ENSP00000269945:p.Glu29Gln					DMRTC2_ENST00000596827.1_Missense_Mutation_p.E29Q|DMRTC2_ENST00000602098.1_3'UTR	p.E29Q	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN			2	136	+			29					Q8N6Q2|Q96M39|Q96SD4	Missense_Mutation	SNP	ENST00000269945.3	37	c.85G>C	CCDS33034.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.743392	0.49151	.	.	ENSG00000142025	ENST00000269945	.	.	.	4.54	3.5	0.40072	.	0.563509	0.14478	N	0.317122	T	0.49133	0.1539	L	0.36672	1.1	0.20196	N	0.99993	D;D	0.63880	0.993;0.963	D;P	0.72982	0.979;0.527	T	0.21177	-1.0253	9	0.46703	T	0.11	-9.7816	7.5654	0.27876	0.1133:0.0:0.8867:0.0	.	29;29	B4DX56;Q8IXT2	.;DMRTD_HUMAN	Q	29	.	ENSP00000269945:E29Q	E	+	1	0	DMRTC2	47043421	0.998000	0.40836	0.795000	0.32087	0.335000	0.28730	4.055000	0.57441	2.472000	0.83506	0.561000	0.74099	GAG		0.637	DMRTC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463045.1	NM_001040283		15	138	0	0	0	1	0	15	138				
MAGEC1	9947	broad.mit.edu	37	X	140995225	140995225	+	Missense_Mutation	SNP	C	C	A			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chrX:140995225C>A	ENST00000285879.4	+	4	2321	c.2035C>A	c.(2035-2037)Cct>Act	p.P679T	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	679										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCCAGAGTCCTGAGAGTGC	0.562										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(2035-2037)Cct>Act		melanoma antigen family C, 1							71.0	74.0	73.0					X																	140995225		2202	4300	6502	SO:0001583	missense	9947						protein binding	g.chrX:140995225C>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2035C>A	X.37:g.140995225C>A	ENSP00000285879:p.Pro679Thr	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.P679T	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	2321	+	Acute lymphoblastic leukemia(192;6.56e-05)		679					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.2035C>A	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	c	8.243	0.807357	0.16467	.	.	ENSG00000155495	ENST00000285879	T	0.04917	3.53	0.901	-0.382	0.12481	.	.	.	.	.	T	0.03827	0.0108	N	0.14661	0.345	0.39271	D	0.964389	P	0.51933	0.949	P	0.44394	0.448	T	0.54207	-0.8328	9	0.52906	T	0.07	.	4.3326	0.11071	0.0:0.676:0.0:0.324	.	679	O60732	MAGC1_HUMAN	T	679	ENSP00000285879:P679T	ENSP00000285879:P679T	P	+	1	0	MAGEC1	140822891	0.000000	0.05858	0.006000	0.13384	0.006000	0.05464	-0.835000	0.04386	0.158000	0.19367	0.160000	0.16472	CCT		0.562	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		34	69	1	0	1.26612e-14	1	1.42844e-14	34	69				
F11	2160	broad.mit.edu	37	4	187201675	187201675	+	Missense_Mutation	SNP	T	T	C			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr4:187201675T>C	ENST00000403665.2	+	10	1428	c.1076T>C	c.(1075-1077)aTa>aCa	p.I359T	F11_ENST00000264692.4_Missense_Mutation_p.I307T	NM_000128.3	NP_000119.1	P03951	FA11_HUMAN	coagulation factor XI	359	Apple 4. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	CCAACTAAAATACTTCACGGG	0.398																																						ENST00000264692.4																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32						c.(919-921)aTa>aCa		coagulation factor XI	Coagulation Factor IX(DB00100)						106.0	99.0	102.0					4																	187201675		2203	4300	6503	SO:0001583	missense	2160				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity	g.chr4:187201675T>C	M13142	CCDS3847.1	4q35	2008-08-01	2008-08-01		ENSG00000088926	ENSG00000088926	3.4.21.27		3529	protein-coding gene	gene with protein product	"""plasma thromboplastin antecedent"""	264900					Standard	NM_000128		Approved	FXI	uc003iza.1	P03951	OTTHUMG00000150311	ENST00000403665.2:c.1076T>C	4.37:g.187201675T>C	ENSP00000384957:p.Ile359Thr					F11_ENST00000403665.2_Missense_Mutation_p.I359T	p.I307T			P03951	FA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	10	1253	+		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)	359			Apple 4.		D3DP64|Q4W5C2|Q9Y495	Missense_Mutation	SNP	ENST00000403665.2	37	c.920T>C	CCDS3847.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.03|16.03	3.005796|3.005796	0.54254|0.54254	.|.	.|.	ENSG00000088926|ENSG00000088926	ENST00000403665;ENST00000264692|ENST00000452239	D;D|.	0.89415|.	-2.5;-2.51|.	5.59|5.59	5.59|5.59	0.84812|0.84812	Apple domain (2);PAN-1 domain (1);Apple-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83133|0.83133	0.5188|0.5188	M|M	0.88241|0.88241	2.94|2.94	0.50313|0.50313	D|D	0.999862|0.999862	D|.	0.63046|.	0.992|.	D|.	0.66497|.	0.944|.	D|D	0.85992|0.85992	0.1489|0.1489	10|5	0.54805|.	T|.	0.06|.	.|.	16.0668|16.0668	0.80887|0.80887	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	359|.	P03951|.	FA11_HUMAN|.	T|H	359;307|175	ENSP00000384957:I359T;ENSP00000264692:I307T|.	ENSP00000264692:I307T|.	I|Y	+|+	2|1	0|0	F11|F11	187438669|187438669	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.263000|0.263000	0.26337|0.26337	3.613000|3.613000	0.54152|0.54152	2.246000|2.246000	0.74042|0.74042	0.533000|0.533000	0.62120|0.62120	ATA|TAC		0.398	F11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317519.4			11	50	0	0	0	1	0	11	50				
EPN2	22905	broad.mit.edu	37	17	19215386	19215386	+	Missense_Mutation	SNP	G	G	A			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr17:19215386G>A	ENST00000314728.5	+	6	1385	c.901G>A	c.(901-903)Gat>Aat	p.D301N	EPN2_ENST00000347697.2_Missense_Mutation_p.D244N|EPN2_ENST00000571254.1_Missense_Mutation_p.D244N|EPN2_ENST00000395620.2_Missense_Mutation_p.D244N|EPN2_ENST00000395626.1_Missense_Mutation_p.D301N|EPN2_ENST00000575595.1_Missense_Mutation_p.D16N|EPN2_ENST00000395618.3_Missense_Mutation_p.D16N	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	301					embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|in utero embryonic development (GO:0001701)|Notch signaling pathway (GO:0007219)	clathrin coat of endocytic vesicle (GO:0030128)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	lipid binding (GO:0008289)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CAGGCGGGGTGATGACCTCAG	0.458																																						ENST00000314728.5																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19						c.(901-903)Gat>Aat		epsin 2							146.0	152.0	150.0					17																	19215386		2203	4300	6503	SO:0001583	missense	22905				endocytosis		lipid binding	g.chr17:19215386G>A	AB028988	CCDS11203.1, CCDS11204.1, CCDS42277.1	17p11.2	2012-11-19			ENSG00000072134	ENSG00000072134			18639	protein-coding gene	gene with protein product	"""Eps15 binding protein"""	607263				10567358	Standard	NM_014964		Approved	KIAA1065, EHB21	uc002gvd.4	O95208	OTTHUMG00000178447	ENST00000314728.5:c.901G>A	17.37:g.19215386G>A	ENSP00000320543:p.Asp301Asn					EPN2_ENST00000347697.2_Missense_Mutation_p.D244N|EPN2_ENST00000395626.1_Missense_Mutation_p.D301N|EPN2_ENST00000575595.1_Missense_Mutation_p.D16N|EPN2_ENST00000395618.3_Missense_Mutation_p.D16N|EPN2_ENST00000395620.2_Missense_Mutation_p.D244N|EPN2_ENST00000571254.1_Missense_Mutation_p.D244N	p.D301N	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN			6	1385	+	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)		301					A8MTV8|B3KRX8|E9PBC2|O95207|Q52LD0|Q9H7Z2|Q9UPT7	Missense_Mutation	SNP	ENST00000314728.5	37	c.901G>A	CCDS11203.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.969994	0.92855	.	.	ENSG00000072134	ENST00000347697;ENST00000395618;ENST00000314728;ENST00000395628;ENST00000395620;ENST00000395626	T;T;T;T;T;T	0.60548	2.14;0.68;1.38;1.1;2.14;0.18	5.39	4.42	0.53409	Ubiquitin interacting motif (2);	0.083744	0.85682	D	0.000000	T	0.76435	0.3987	M	0.81682	2.555	0.58432	D	0.999999	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.992;0.998;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.998;0.998;1.0;1.0;0.914;0.995;0.998;0.989	T	0.80195	-0.1483	10	0.72032	D	0.01	-21.2605	14.278	0.66194	0.0718:0.0:0.9282:0.0	.	244;244;16;16;301;244;244;301	Q52LD0;B7ZKM5;B7Z3A5;A8MTV8;E9PBC1;E7EMC3;E9PBC2;O95208	.;.;.;.;.;.;.;EPN2_HUMAN	N	244;16;301;244;244;301	ENSP00000261495:D244N;ENSP00000378980:D16N;ENSP00000320543:D301N;ENSP00000378990:D244N;ENSP00000378982:D244N;ENSP00000378988:D301N	ENSP00000320543:D301N	D	+	1	0	EPN2	19155979	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	9.191000	0.94940	1.283000	0.44513	0.655000	0.94253	GAT		0.458	EPN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132283.3	NM_014964		8	105	0	0	0	1	0	8	105				
DISP1	84976	broad.mit.edu	37	1	223116655	223116655	+	Missense_Mutation	SNP	C	C	A			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr1:223116655C>A	ENST00000284476.6	+	2	654	c.490C>A	c.(490-492)Cag>Aag	p.Q164K	DISP1_ENST00000360254.2_Missense_Mutation_p.Q164K|DISP1_ENST00000495684.1_Intron	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	164					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GCCTGTGCAACAGCACATAGC	0.458																																						ENST00000284476.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.(490-492)Cag>Aag		dispatched homolog 1 (Drosophila)							118.0	93.0	101.0					1																	223116655		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223116655C>A	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.490C>A	1.37:g.223116655C>A	ENSP00000284476:p.Gln164Lys					DISP1_ENST00000360254.2_Missense_Mutation_p.Q164K|DISP1_ENST00000495684.1_Intron	p.Q164K	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	2	654	+			164					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.490C>A	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.250013	0.39797	.	.	ENSG00000154309	ENST00000360254;ENST00000284476	T;D	0.91894	0.74;-2.93	5.5	5.5	0.81552	.	0.307430	0.32231	N	0.006384	D	0.88771	0.6527	L	0.38838	1.175	0.39456	D	0.967485	B	0.09022	0.002	B	0.06405	0.002	D	0.84060	0.0374	10	0.30854	T	0.27	-18.2636	19.3812	0.94536	0.0:1.0:0.0:0.0	.	164	Q96F81	DISP1_HUMAN	K	164	ENSP00000355848:Q164K;ENSP00000284476:Q164K	ENSP00000284476:Q164K	Q	+	1	0	DISP1	221183278	1.000000	0.71417	0.953000	0.39169	0.983000	0.72400	5.629000	0.67798	2.579000	0.87056	0.603000	0.83216	CAG		0.458	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		10	87	1	0	7.48243e-07	1	8.02992e-07	10	87				
OBSCN	84033	broad.mit.edu	37	1	228491377	228491377	+	Intron	SNP	C	C	G			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr1:228491377C>G	ENST00000422127.1	+	44	11703				OBSCN_ENST00000570156.2_Splice_Site_p.A4580A|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000366707.4_Splice_Site_p.A1270A|OBSCN_ENST00000366709.4_Intron|RP5-1139B12.4_ENST00000602778.1_RNA	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCTTTCCAGCCCTGCCGGCCA	0.557																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.e52-1		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							122.0	110.0	114.0					1																	228491377		876	1991	2867	SO:0001627	intron_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228491377C>G	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.11660-2696C>G	1.37:g.228491377C>G						OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000366707.4_Splice_Site_p.A1270_splice|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366709.4_Intron	p.A4580_splice	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			52	13814	+		Prostate(94;0.0405)	3623			Fibronectin type-III 3.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Splice_Site	SNP	ENST00000422127.1	37	c.13738_splice	CCDS58065.1																																																																																				0.557	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		8	74	0	0	0	1	0	8	74				
OR2AT4	341152	broad.mit.edu	37	11	74800536	74800536	+	Missense_Mutation	SNP	C	C	T			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr11:74800536C>T	ENST00000305159.3	-	1	263	c.223G>A	c.(223-225)Gac>Aac	p.D75N		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	75						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						AAAAGGATGTCCAAGGTGGAG	0.522																																						ENST00000305159.3																			0				endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						c.(223-225)Gac>Aac		olfactory receptor, family 2, subfamily AT, member 4							166.0	135.0	145.0					11																	74800536		2200	4293	6493	SO:0001583	missense	341152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:74800536C>T	BK004820	CCDS31639.1	11q13.4	2012-08-09			ENSG00000171561	ENSG00000171561		"""GPCR / Class A : Olfactory receptors"""	19620	protein-coding gene	gene with protein product							Standard	NM_001005285		Approved		uc010rro.2	A6NND4	OTTHUMG00000165370	ENST00000305159.3:c.223G>A	11.37:g.74800536C>T	ENSP00000304846:p.Asp75Asn						p.D75N	NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN			1	263	-			75					B9EGZ8	Missense_Mutation	SNP	ENST00000305159.3	37	c.223G>A	CCDS31639.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937986	0.73557	.	.	ENSG00000171561	ENST00000305159	T	0.01165	5.24	4.98	4.98	0.66077	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35151	U	0.003417	T	0.09555	0.0235	M	0.90814	3.15	0.41287	D	0.986953	D	0.89917	1.0	D	0.97110	1.0	T	0.00473	-1.1718	10	0.87932	D	0	.	16.1425	0.81536	0.0:1.0:0.0:0.0	.	75	A6NND4	O2AT4_HUMAN	N	75	ENSP00000304846:D75N	ENSP00000304846:D75N	D	-	1	0	OR2AT4	74478184	1.000000	0.71417	0.978000	0.43139	0.908000	0.53690	6.011000	0.70760	2.488000	0.83962	0.555000	0.69702	GAC		0.522	OR2AT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383734.1	NM_001005285		6	43	0	0	0	1	0	6	43				
PTPN7	5778	broad.mit.edu	37	1	202127349	202127349	+	Missense_Mutation	SNP	C	C	T			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr1:202127349C>T	ENST00000308986.5	-	3	333	c.203G>A	c.(202-204)cGg>cAg	p.R68Q	PTPN7_ENST00000492977.1_5'UTR|PTPN7_ENST00000367279.4_Missense_Mutation_p.R107Q|PTPN7_ENST00000544762.1_5'UTR|PTPN7_ENST00000309017.3_Missense_Mutation_p.R173Q|PTPN7_ENST00000543735.1_Intron			P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7	68					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						GGTGACCTCCCGGGGTGTGTT	0.632																																						ENST00000309017.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						c.(517-519)cGg>cAg		protein tyrosine phosphatase, non-receptor type 7							59.0	60.0	60.0					1																	202127349		2203	4300	6503	SO:0001583	missense	5778					cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr1:202127349C>T	BC001746	CCDS1422.1, CCDS1423.1, CCDS1423.2	1q32.1	2011-06-09			ENSG00000143851	ENSG00000143851		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9659	protein-coding gene	gene with protein product		176889				1510684	Standard	NM_002832		Approved	HEPTP, LC-PTP	uc010ppx.2	P35236	OTTHUMG00000035931	ENST00000308986.5:c.203G>A	1.37:g.202127349C>T	ENSP00000311133:p.Arg68Gln					PTPN7_ENST00000543735.1_Intron|PTPN7_ENST00000367279.4_Missense_Mutation_p.R107Q|PTPN7_ENST00000308986.5_Missense_Mutation_p.R68Q|PTPN7_ENST00000492977.1_5'UTR|PTPN7_ENST00000544762.1_5'UTR	p.R173Q	NM_001199797.1|NM_002832.3	NP_001186726.1|NP_002823.3	P35236	PTN7_HUMAN			3	1291	-			68			Tyrosine-protein phosphatase.		B3KXE1|Q53XK4|Q5SXQ0|Q5SXQ1|Q9BV05	Missense_Mutation	SNP	ENST00000308986.5	37	c.518G>A		.	.	.	.	.	.	.	.	.	.	C	15.45	2.836628	0.50951	.	.	ENSG00000143851	ENST00000367279;ENST00000309017;ENST00000308986;ENST00000477554;ENST00000476061;ENST00000467283;ENST00000464870;ENST00000486116;ENST00000492451	T;T;T;T;T;T;T;T;T	0.58652	3.62;3.54;3.66;3.55;2.58;0.99;1.01;0.32;0.33	5.03	4.1	0.47936	.	0.109437	0.41194	N	0.000932	T	0.45337	0.1337	L	0.52823	1.66	0.80722	D	1	P;B;B;P;P	0.47106	0.63;0.081;0.183;0.587;0.89	B;B;B;B;B	0.30401	0.061;0.009;0.014;0.037;0.115	T	0.46843	-0.9162	10	0.39692	T	0.17	.	12.6329	0.56667	0.0:0.917:0.0:0.083	.	142;16;20;68;107	B4DZD9;B4DVF0;Q8NFX3;P35236;P35236-2	.;.;.;PTN7_HUMAN;.	Q	107;173;68;149;67;68;68;68;68	ENSP00000356248:R107Q;ENSP00000309116:R173Q;ENSP00000311133:R68Q;ENSP00000418416:R149Q;ENSP00000419993:R67Q;ENSP00000418837:R68Q;ENSP00000420434:R68Q;ENSP00000417350:R68Q;ENSP00000417410:R68Q	ENSP00000311133:R68Q	R	-	2	0	PTPN7	200393972	0.993000	0.37304	0.994000	0.49952	0.550000	0.35303	2.450000	0.44943	1.071000	0.40834	0.462000	0.41574	CGG		0.632	PTPN7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_002832		3	47	0	0	0	1	0	3	47				
SPECC1	92521	broad.mit.edu	37	17	20109180	20109180	+	Silent	SNP	A	A	G			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr17:20109180A>G	ENST00000261503.5	+	4	1869	c.1818A>G	c.(1816-1818)ctA>ctG	p.L606L	SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000584527.1_Silent_p.L24L|SPECC1_ENST00000395525.3_Silent_p.L525L|SPECC1_ENST00000395522.2_Silent_p.L525L|SPECC1_ENST00000395530.2_Silent_p.L525L|SPECC1_ENST00000395529.3_Silent_p.L606L|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000395527.4_Silent_p.L606L	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	606					cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		AAGAATTACTAAAGGCAAACG	0.443																																						ENST00000395530.2																			0				breast(1)|large_intestine(3)|ovary(4)	8						c.(1573-1575)ctA>ctG		sperm antigen with calponin homology and coiled-coil domains 1							85.0	86.0	86.0					17																	20109180		2196	4294	6490	SO:0001819	synonymous_variant	92521					nucleus		g.chr17:20109180A>G	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.1818A>G	17.37:g.20109180A>G						SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000261503.5_Silent_p.L606L|SPECC1_ENST00000395529.3_Silent_p.L606L|SPECC1_ENST00000395527.4_Silent_p.L606L|SPECC1_ENST00000395522.2_Silent_p.L525L|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000584527.1_Silent_p.L24L|SPECC1_ENST00000395525.3_Silent_p.L525L|AC004702.2_ENST00000580225.1_lincRNA	p.L525L	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN		KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)	2	1783	+			606					B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Silent	SNP	ENST00000261503.5	37	c.1575A>G	CCDS32590.1																																																																																				0.443	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1	NM_152904		12	93	0	0	0	1	0	12	93				
PHF13	148479	broad.mit.edu	37	1	6680134	6680134	+	Missense_Mutation	SNP	G	G	C			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr1:6680134G>C	ENST00000377648.4	+	3	795	c.413G>C	c.(412-414)gGc>gCc	p.G138A	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	138					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		TACAGGGGGGGCTTGCTGAAG	0.607																																						ENST00000377648.4																			0				endometrium(3)|large_intestine(1)|lung(3)	7						c.(412-414)gGc>gCc		PHD finger protein 13							37.0	40.0	39.0					1																	6680134		2203	4300	6503	SO:0001583	missense	148479				cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding	g.chr1:6680134G>C	AK027492	CCDS85.1	1p36.23	2013-01-28			ENSG00000116273	ENSG00000116273		"""Zinc fingers, PHD-type"""	22983	protein-coding gene	gene with protein product							Standard	NM_153812		Approved	MGC43399	uc001aob.4	Q86YI8	OTTHUMG00000001439	ENST00000377648.4:c.413G>C	1.37:g.6680134G>C	ENSP00000366876:p.Gly138Ala					PHF13_ENST00000495385.1_Intron	p.G138A	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)	3	795	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	138					B3KUQ7|Q59FB6|Q5TH65|Q8N551|Q9UJP2	Missense_Mutation	SNP	ENST00000377648.4	37	c.413G>C	CCDS85.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.680777	0.00745	.	.	ENSG00000116273	ENST00000377648	T	0.39997	1.05	5.47	4.56	0.56223	.	0.902641	0.09796	N	0.754701	T	0.28366	0.0701	N	0.22421	0.69	0.09310	N	0.999999	B	0.12013	0.005	B	0.08055	0.003	T	0.18745	-1.0327	10	0.27785	T	0.31	-5.8892	7.2207	0.25985	0.2623:0.0:0.7376:0.0	.	138	Q86YI8	PHF13_HUMAN	A	138	ENSP00000366876:G138A	ENSP00000366876:G138A	G	+	2	0	PHF13	6602721	0.993000	0.37304	0.208000	0.23602	0.058000	0.15608	3.206000	0.51098	1.307000	0.44944	-0.258000	0.10820	GGC		0.607	PHF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004201.1	NM_153812		6	62	0	0	0	1	0	6	62				
SPATA6L	55064	broad.mit.edu	37	9	4604231	4604231	+	Missense_Mutation	SNP	T	T	G			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr9:4604231T>G	ENST00000454239.2	-	12	1373	c.1128A>C	c.(1126-1128)agA>agC	p.R376S	SPATA6L_ENST00000475086.1_Missense_Mutation_p.R318S|SPATA6L_ENST00000381895.5_Missense_Mutation_p.R253S|SPATA6L_ENST00000381890.5_Intron			Q8N4H0	SPA6L_HUMAN	spermatogenesis associated 6-like	376																	GGTAGCTTGGTCTTTCAATGA	0.348																																						ENST00000454239.2																			0											c.(1126-1128)agA>agC		spermatogenesis associated 6-like							136.0	128.0	131.0					9																	4604231		1813	4084	5897	SO:0001583	missense	55064							g.chr9:4604231T>G	AK000920	CCDS43785.1, CCDS43785.2	9p24.2	2012-03-15	2012-03-15	2012-03-15	ENSG00000106686	ENSG00000106686			25472	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 68"""	C9orf68			Standard	NM_001039395		Approved	FLJ10058	uc011llz.2	Q8N4H0	OTTHUMG00000019469	ENST00000454239.2:c.1128A>C	9.37:g.4604231T>G	ENSP00000404277:p.Arg376Ser					SPATA6L_ENST00000381895.5_Missense_Mutation_p.R253S|SPATA6L_ENST00000381890.5_Intron|SPATA6L_ENST00000475086.1_Missense_Mutation_p.R318S	p.R376S			B4DIY4	B4DIY4_HUMAN			12	1373	-			318					B4DIY4|Q5JVJ5|Q8IY90	Missense_Mutation	SNP	ENST00000454239.2	37	c.1128A>C		.	.	.	.	.	.	.	.	.	.	T	5.619	0.298892	0.10622	.	.	ENSG00000106686	ENST00000454239;ENST00000475086;ENST00000381895	T;T;T	0.52983	1.07;0.85;0.64	4.99	-0.198	0.13224	.	.	.	.	.	T	0.36276	0.0961	L	0.55481	1.735	0.09310	N	1	B;B;B	0.22746	0.043;0.074;0.028	B;B;B	0.23574	0.029;0.047;0.042	T	0.40739	-0.9547	9	0.54805	T	0.06	-16.2752	0.841	0.01150	0.1574:0.1859:0.1637:0.4929	.	318;253;376	B4DIY4;E7ENB5;Q8N4H0	.;.;CI068_HUMAN	S	376;318;253	ENSP00000404277:R376S;ENSP00000417063:R318S;ENSP00000371319:R253S	ENSP00000371319:R253S	R	-	3	2	C9orf68	4594231	0.773000	0.28580	0.001000	0.08648	0.003000	0.03518	0.782000	0.26788	-0.104000	0.12154	-1.024000	0.02432	AGA		0.348	SPATA6L-202	KNOWN	basic	protein_coding	protein_coding		NM_017985		5	44	0	0	0	1	0	5	44				
TIE1	7075	broad.mit.edu	37	1	43783268	43783268	+	Missense_Mutation	SNP	C	C	T			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr1:43783268C>T	ENST00000372476.3	+	16	2733	c.2654C>T	c.(2653-2655)gCg>gTg	p.A885V	TIE1_ENST00000433781.2_Missense_Mutation_p.A530V|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	885	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGTGACTTTGCGGGAGAACTG	0.502																																						ENST00000372476.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(2653-2655)gCg>gTg		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							165.0	180.0	175.0					1																	43783268		2203	4300	6503	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43783268C>T	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2654C>T	1.37:g.43783268C>T	ENSP00000361554:p.Ala885Val					TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.A530V	p.A885V	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN			16	2733	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	885			Protein kinase.		B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.2654C>T	CCDS482.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120241	0.77323	.	.	ENSG00000066056	ENST00000372476;ENST00000372475;ENST00000536913;ENST00000433781	D;D	0.82167	-1.58;-1.58	5.66	5.66	0.87406	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.39985	N	0.001216	T	0.67562	0.2906	L	0.28115	0.83	0.80722	D	1	D;P;D	0.58268	0.982;0.908;0.982	B;B;B	0.32928	0.155;0.055;0.155	T	0.72357	-0.4318	10	0.02654	T	1	.	19.7383	0.96217	0.0:1.0:0.0:0.0	.	840;530;885	B4DTW8;B4DKW0;P35590	.;.;TIE1_HUMAN	V	885;288;168;530	ENSP00000361554:A885V;ENSP00000411728:A530V	ENSP00000361553:A288V	A	+	2	0	TIE1	43555855	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	7.818000	0.86416	2.675000	0.91044	0.655000	0.94253	GCG		0.502	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		6	209	0	0	0	1	0	6	209				
BMS1P20	96610	broad.mit.edu	37	22	22661478	22661478	+	RNA	SNP	T	T	G			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr22:22661478T>G	ENST00000426066.1	+	0	368					NR_027293.1				BMS1 pseudogene 20																		CAGATGCGTCTGAAGAAACAT	0.488																																						ENST00000426066.1																			0																																																			0							g.chr22:22661478T>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661478T>G								NR_027293.1						0	368	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.488	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			5	44	0	0	0	1	0	5	44				
KIAA0141	9812	broad.mit.edu	37	5	141309245	141309245	+	Missense_Mutation	SNP	C	C	T			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr5:141309245C>T	ENST00000432126.2	+	5	645	c.511C>T	c.(511-513)Ccc>Tcc	p.P171S	KIAA0141_ENST00000194118.4_Missense_Mutation_p.P171S	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	171					extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	mitochondrion (GO:0005739)				endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAGCTCAGCCCCGGAACTT	0.617																																						ENST00000432126.2																			0				endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16						c.(511-513)Ccc>Tcc		KIAA0141							64.0	62.0	63.0					5																	141309245		2203	4300	6503	SO:0001583	missense	9812				apoptosis|regulation of caspase activity	mitochondrion	protein binding	g.chr5:141309245C>T	BC011269	CCDS4268.1	5q31	2011-05-05			ENSG00000081791	ENSG00000081791			28969	protein-coding gene	gene with protein product	"""death ligand signal enhancer"""	615741				20563667	Standard	XM_005268549		Approved	DELE	uc003llt.3	Q14154	OTTHUMG00000129662	ENST00000432126.2:c.511C>T	5.37:g.141309245C>T	ENSP00000396225:p.Pro171Ser					KIAA0141_ENST00000194118.4_Missense_Mutation_p.P171S	p.P171S	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	645	+		all_hematologic(541;0.118)	171					Q969R4|Q96EU9	Missense_Mutation	SNP	ENST00000432126.2	37	c.511C>T	CCDS4268.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.390684	0.42410	.	.	ENSG00000081791	ENST00000432126;ENST00000194118;ENST00000508751	T;T;T	0.18810	2.73;2.73;2.19	4.84	-0.122	0.13531	.	0.862397	0.10228	N	0.700017	T	0.13841	0.0335	L	0.39633	1.23	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.35871	-0.9771	10	0.22109	T	0.4	-2.5812	4.3425	0.11117	0.0:0.4669:0.1644:0.3687	.	171	Q14154	DELE_HUMAN	S	171	ENSP00000396225:P171S;ENSP00000194118:P171S;ENSP00000422686:P171S	ENSP00000194118:P171S	P	+	1	0	KIAA0141	141289429	0.000000	0.05858	0.000000	0.03702	0.930000	0.56654	-0.342000	0.07801	-0.227000	0.09884	0.305000	0.20034	CCC		0.617	KIAA0141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251863.2	NM_014773		4	57	0	0	0	1	0	4	57				
POLR2A	5430	broad.mit.edu	37	17	7405016	7405016	+	Missense_Mutation	SNP	G	G	A			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr17:7405016G>A	ENST00000322644.6	+	14	2716	c.2317G>A	c.(2317-2319)Gga>Aga	p.G773R		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	773					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GGTCGTGTCCGGAGCTAAAGG	0.483																																						ENST00000322644.6																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(2317-2319)Gga>Aga		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							63.0	59.0	61.0					17																	7405016		2203	4300	6503	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7405016G>A			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.2317G>A	17.37:g.7405016G>A	ENSP00000314949:p.Gly773Arg						p.G773R	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN			14	2716	+		Prostate(122;0.173)	773					A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.2317G>A	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.947770	0.92593	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	D	0.97378	-4.36	5.82	5.82	0.92795	RNA polymerase Rpb1, domain 4 (1);	0.000000	0.85682	D	0.000000	D	0.99275	0.9747	H	0.99249	4.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98602	1.0659	10	0.87932	D	0	-6.8597	18.8608	0.92271	0.0:0.0:1.0:0.0	.	773	P24928	RPB1_HUMAN	R	729;773	ENSP00000314949:G773R	ENSP00000314949:G773R	G	+	1	0	SLC35G6	7345740	1.000000	0.71417	0.904000	0.35570	0.986000	0.74619	9.627000	0.98412	2.761000	0.94854	0.655000	0.94253	GGA		0.483	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		3	50	0	0	0	1	0	3	50				
TRPM5	29850	broad.mit.edu	37	11	2436267	2436267	+	Missense_Mutation	SNP	G	G	A			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr11:2436267G>A	ENST00000155858.6	-	10	1498	c.1490C>T	c.(1489-1491)cCg>cTg	p.P497L	TRPM5_ENST00000452833.1_Missense_Mutation_p.P499L|TRPM5_ENST00000528453.1_Missense_Mutation_p.P497L|TRPM5_ENST00000533060.1_Missense_Mutation_p.P497L	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCGCTTGGCCGGGCCCTTCTC	0.726																																					NSCLC(1;49 61 17205 18850 43201)	ENST00000452833.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23						c.(1495-1497)cCg>cTg		transient receptor potential cation channel, subfamily M, member 5							16.0	22.0	20.0					11																	2436267		2167	4261	6428	SO:0001583	missense	29850					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	g.chr11:2436267G>A	AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.1490C>T	11.37:g.2436267G>A	ENSP00000155858:p.Pro497Leu					TRPM5_ENST00000528453.1_Missense_Mutation_p.P497L|TRPM5_ENST00000155858.6_Missense_Mutation_p.P497L|TRPM5_ENST00000533060.1_Missense_Mutation_p.P497L	p.P499L			Q9NZQ8	TRPM5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)	10	1504	-		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)	497						Missense_Mutation	SNP	ENST00000155858.6	37	c.1496C>T	CCDS31340.1	.	.	.	.	.	.	.	.	.	.	G	1.252	-0.618234	0.03663	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453;ENST00000437542	T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09	3.68	3.68	0.42216	.	0.000000	0.43747	D	0.000524	T	0.48205	0.1487	N	0.26042	0.785	0.26551	N	0.973911	B;B;B	0.14438	0.01;0.01;0.008	B;B;B	0.09377	0.004;0.004;0.004	T	0.47302	-0.9128	10	0.46703	T	0.11	-18.1904	13.2803	0.60210	0.0:0.0:1.0:0.0	.	497;499;497	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	L	491;497;499;497;497;497	ENSP00000434383:P491L;ENSP00000155858:P497L;ENSP00000387965:P499L;ENSP00000434121:P497L;ENSP00000436809:P497L	ENSP00000155858:P497L	P	-	2	0	TRPM5	2392843	0.004000	0.15560	0.004000	0.12327	0.025000	0.11179	1.345000	0.33953	2.069000	0.61940	0.491000	0.48974	CCG		0.726	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1	NM_014555		4	33	0	0	0	1	0	4	33				
PHKG2	5261	broad.mit.edu	37	16	30768222	30768222	+	Missense_Mutation	SNP	C	C	T			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr16:30768222C>T	ENST00000563588.1	+	10	1264	c.1025C>T	c.(1024-1026)gCg>gTg	p.A342V	PHKG2_ENST00000424889.3_Missense_Mutation_p.A342V|PHKG2_ENST00000328273.7_Missense_Mutation_p.A346V	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	342					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|positive regulation of glycogen catabolic process (GO:0045819)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			ovary(1)|skin(1)	2			Colorectal(24;0.198)			GACCCTTATGCGCTGCGGTCA	0.607																																						ENST00000563588.1																			0				ovary(1)|skin(1)	2						c.(1024-1026)gCg>gTg		phosphorylase kinase, gamma 2 (testis)							125.0	109.0	114.0					16																	30768222		2197	4300	6497	SO:0001583	missense	5261				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity	g.chr16:30768222C>T	S73483, M31606	CCDS10690.1, CCDS54002.1	16p11.2	2008-02-05			ENSG00000156873	ENSG00000156873			8931	protein-coding gene	gene with protein product		172471				2915644, 8020963	Standard	NM_000294		Approved		uc021tgo.1	P15735	OTTHUMG00000132400	ENST00000563588.1:c.1025C>T	16.37:g.30768222C>T	ENSP00000455607:p.Ala342Val					PHKG2_ENST00000424889.3_Missense_Mutation_p.A342V|PHKG2_ENST00000328273.7_Missense_Mutation_p.A346V	p.A342V	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	Colorectal(24;0.198)		10	1264	+			342					A8K0C7|B4DEB7|E9PEU3|P11800	Missense_Mutation	SNP	ENST00000563588.1	37	c.1025C>T	CCDS10690.1	.	.	.	.	.	.	.	.	.	.	C	19.99	3.929126	0.73327	.	.	ENSG00000156873	ENST00000328273;ENST00000424889	T	0.31769	1.48	6.07	5.06	0.68205	Protein kinase-like domain (1);	0.145164	0.32357	N	0.006216	T	0.41282	0.1152	M	0.62723	1.935	0.34416	D	0.696906	P;P	0.42993	0.695;0.797	B;P	0.46419	0.317;0.516	T	0.54556	-0.8276	10	0.51188	T	0.08	-15.2995	16.7629	0.85517	0.0:0.7965:0.2035:0.0	.	342;342	P15735;P15735-2	PHKG2_HUMAN;.	V	342	ENSP00000388571:A342V	ENSP00000329968:A342V	A	+	2	0	PHKG2	30675723	0.998000	0.40836	0.321000	0.25320	0.897000	0.52465	4.017000	0.57167	2.884000	0.98904	0.655000	0.94253	GCG		0.607	PHKG2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255531.2	NM_000294		4	169	0	0	0	1	0	4	169				
CNTROB	116840	broad.mit.edu	37	17	7852810	7852810	+	Silent	SNP	G	G	T	rs185320189	byFrequency	TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr17:7852810G>T	ENST00000563694.1	+	19	3619	c.2694G>T	c.(2692-2694)cgG>cgT	p.R898R	CNTROB_ENST00000380262.3_Silent_p.R920R|CNTROB_ENST00000380255.3_3'UTR|CNTROB_ENST00000565740.1_Silent_p.R899R	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	898	Required for centrosome localization.				centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				TGAGGAGCCGGGGGGGAGTCT	0.552													G|||	6	0.00119808	0.0	0.0	5008	,	,		15670	0.006		0.0	False		,,,				2504	0.0					ENST00000380262.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25						c.(2758-2760)cgG>cgT		centrobin, centrosomal BRCA2 interacting protein							30.0	36.0	34.0					17																	7852810		2201	4299	6500	SO:0001819	synonymous_variant	116840				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	g.chr17:7852810G>T	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"""centrobin"""	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.2694G>T	17.37:g.7852810G>T						CNTROB_ENST00000380255.3_3'UTR|CNTROB_ENST00000563694.1_Silent_p.R898R|CNTROB_ENST00000565740.1_Silent_p.R899R	p.R920R	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN			19	3685	+		Prostate(122;0.173)	898					A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Silent	SNP	ENST00000563694.1	37	c.2760G>T	CCDS11126.1																																																																																				0.552	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051		7	43	1	0	0.000157383	1	0.000161043	7	43				
UBB	7314	broad.mit.edu	37	17	16285560	16285560	+	Silent	SNP	T	T	C			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr17:16285560T>C	ENST00000395837.1	+	2	520	c.339T>C	c.(337-339)ccT>ccC	p.P113P	UBB_ENST00000395839.1_Silent_p.P113P|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000302182.3_Silent_p.P113P|UBB_ENST00000535788.1_Intron|UBB_ENST00000578649.1_Intron	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	113	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AAGGCATCCCTCCCGACCAGC	0.557																																					Melanoma(163;1126 3406 34901)	ENST00000302182.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(337-339)ccT>ccC		ubiquitin B							115.0	112.0	113.0					17																	16285560		2203	4300	6503	SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285560T>C		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"""polyubiquitin B"""	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.339T>C	17.37:g.16285560T>C						UBB_ENST00000395839.1_Silent_p.P113P|UBB_ENST00000578649.1_Intron|UBB_ENST00000535788.1_Intron|UBB_ENST00000395837.1_Silent_p.P113P|RP11-138I1.4_ENST00000583934.1_RNA	p.P113P	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	731	+			113			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.339T>C	CCDS11177.1																																																																																				0.557	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		4	105	0	0	0	1	0	4	105				
FAM47B	170062	broad.mit.edu	37	X	34960974	34960974	+	Missense_Mutation	SNP	G	G	A			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chrX:34960974G>A	ENST00000329357.5	+	1	62	c.26G>A	c.(25-27)cGg>cAg	p.R9Q		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	9										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CCACAGGACCGGCCAAGGTCC	0.627																																						ENST00000329357.5																			0				breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						c.(25-27)cGg>cAg		family with sequence similarity 47, member B							25.0	21.0	22.0					X																	34960974		2202	4299	6501	SO:0001583	missense	170062							g.chrX:34960974G>A	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.26G>A	X.37:g.34960974G>A	ENSP00000328307:p.Arg9Gln						p.R9Q	NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN			1	62	+			9					Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.26G>A	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	G	4.064	0.009606	0.07912	.	.	ENSG00000189132	ENST00000329357	T	0.20598	2.06	0.843	-0.217	0.13149	.	.	.	.	.	T	0.11537	0.0281	L	0.38838	1.175	0.09310	N	1	B	0.33494	0.414	B	0.18263	0.021	T	0.20874	-1.0262	8	0.32370	T	0.25	.	.	.	.	.	9	Q8NA70	FA47B_HUMAN	Q	9	ENSP00000328307:R9Q	ENSP00000328307:R9Q	R	+	2	0	FAM47B	34870895	0.002000	0.14202	0.013000	0.15412	0.020000	0.10135	0.364000	0.20325	-0.147000	0.11254	0.292000	0.19580	CGG		0.627	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		5	13	0	0	0	1	0	5	13				
TTN	7273	broad.mit.edu	37	2	179480436	179480436	+	Missense_Mutation	SNP	G	G	T			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr2:179480436G>T	ENST00000591111.1	-	208	43693	c.43469C>A	c.(43468-43470)gCt>gAt	p.A14490D	TTN_ENST00000342992.6_Missense_Mutation_p.A13563D|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A7191D|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN_ENST00000342175.6_Missense_Mutation_p.A7258D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A7066D|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A16131D			Q8WZ42	TITIN_HUMAN	titin	14490	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGTTACGAGCACAAACTTT	0.373																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(48391-48393)gCt>gAt		titin							178.0	167.0	171.0					2																	179480436		1892	4109	6001	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179480436G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.43469C>A	2.37:g.179480436G>T	ENSP00000465570:p.Ala14490Asp					TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A7191D|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A13563D|TTN_ENST00000591111.1_Missense_Mutation_p.A14490D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A7258D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A7066D	p.A16131D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		258	48616	-			14490			Fibronectin type-III 17.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.48392C>A		.	.	.	.	.	.	.	.	.	.	G	15.58	2.876685	0.51801	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43	5.76	5.76	0.90799	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.90769	0.7102	H	0.99454	4.575	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.94378	0.7602	9	0.87932	D	0	.	19.9601	0.97247	0.0:0.0:1.0:0.0	.	7066;7191;7258;14490	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	13563;7066;7258;7191;7066	ENSP00000343764:A13563D;ENSP00000434586:A7066D;ENSP00000340554:A7258D;ENSP00000352154:A7191D	ENSP00000340554:A7258D	A	-	2	0	TTN	179188681	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.696000	0.98695	2.720000	0.93068	0.655000	0.94253	GCT		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		13	83	1	0	4.3838e-07	1	4.82218e-07	13	83				
FAT2	2196	broad.mit.edu	37	5	150908750	150908750	+	Missense_Mutation	SNP	C	C	T	rs114070271	byFrequency	TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr5:150908750C>T	ENST00000261800.5	-	14	10027	c.10015G>A	c.(10015-10017)Gtc>Atc	p.V3339I		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3339	Cadherin 30. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGAGGATGACGTCACCCACA	0.517													C|||	5	0.000998403	0.0038	0.0	5008	,	,		21650	0.0		0.0	False		,,,				2504	0.0					ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(10015-10017)Gtc>Atc		FAT atypical cadherin 2		C	ILE/VAL	27,4379	34.3+/-65.2	0,27,2176	101.0	95.0	97.0		10015	-1.1	0.0	5	dbSNP_132	97	0,8600		0,0,4300	yes	missense	FAT2	NM_001447.2	29	0,27,6476	TT,TC,CC		0.0,0.6128,0.2076	benign	3339/4350	150908750	27,12979	2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150908750C>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.10015G>A	5.37:g.150908750C>T	ENSP00000261800:p.Val3339Ile						p.V3339I	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		14	10027	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	3339			Cadherin 30.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.10015G>A	CCDS4317.1	2|2	9.157509157509158E-4|9.157509157509158E-4	2|2	0.0040650406504065045|0.0040650406504065045	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	2.164|2.164	-0.391589|-0.391589	0.04932|0.04932	0.006128|0.006128	0.0|0.0	ENSG00000086570|ENSG00000086570	ENST00000520200|ENST00000261800	.|T	.|0.51817	.|0.69	5.78|5.78	-1.14|-1.14	0.09741|0.09741	.|Cadherin (3);Cadherin-like (1);	.|1.322540	.|0.04863	.|N	.|0.444558	T|T	0.20373|0.20373	0.0490|0.0490	N|N	0.13235|0.13235	0.315|0.315	0.09310|0.09310	N|N	1|1	.|B;B	.|0.12630	.|0.006;0.002	.|B;B	.|0.08055	.|0.003;0.002	T|T	0.10382|0.10382	-1.0632|-1.0632	5|10	.|0.32370	.|T	.|0.25	.|.	3.8757|3.8757	0.09056|0.09056	0.127:0.1291:0.1269:0.617|0.127:0.1291:0.1269:0.617	.|.	.|3339;530	.|Q9NYQ8;E9PDJ8	.|FAT2_HUMAN;.	H|I	197|3339	.|ENSP00000261800:V3339I	.|ENSP00000261800:V3339I	R|V	-|-	2|1	0|0	FAT2|FAT2	150888943|150888943	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.100000|0.100000	0.18952|0.18952	-0.166000|-0.166000	0.09954|0.09954	-0.445000|-0.445000	0.07159|0.07159	-0.158000|-0.158000	0.13435|0.13435	CGT|GTC		0.517	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		18	66	0	0	0	1	0	18	66				
CROCCP2	84809	broad.mit.edu	37	1	16946438	16946438	+	lincRNA	SNP	G	G	A	rs28392876	byFrequency	TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr1:16946438G>A	ENST00000412962.1	-	0	1081				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											GCCTTCCGCCGGGCCAGCAGC	0.672																																						ENST00000412962.1																			0																																																			0							g.chr1:16946438G>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946438G>A														0	1081	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		3	10	0	0	0	1	0	3	10				
ST6GALNAC1	55808	broad.mit.edu	37	17	74625601	74625601	+	Silent	SNP	C	C	T			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr17:74625601C>T	ENST00000156626.7	-	2	523	c.324G>A	c.(322-324)ccG>ccA	p.P108P	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	108					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						GCTCCTCCGGCGGTGCCTGGT	0.587																																						ENST00000156626.7																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(322-324)ccG>ccA		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1							128.0	117.0	121.0					17																	74625601		2203	4300	6503	SO:0001819	synonymous_variant	55808				protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity	g.chr17:74625601C>T	Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"""Sialyltransferases"""	23614	protein-coding gene	gene with protein product		610138	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"""	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.324G>A	17.37:g.74625601C>T						ST6GALNAC1_ENST00000590878.1_5'UTR	p.P108P	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN			2	523	-			108					Q6UW90|Q9NSC6	Silent	SNP	ENST00000156626.7	37	c.324G>A	CCDS11748.1																																																																																				0.587	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450974.1	NM_018414		8	75	0	0	0	1	0	8	75				
CA8	767	broad.mit.edu	37	8	61137094	61137094	+	Splice_Site	SNP	A	A	C			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr8:61137094A>C	ENST00000317995.4	-	6	890		c.e6+1		CA8_ENST00000528666.1_Splice_Site	NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII						one-carbon metabolic process (GO:0006730)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasm (GO:0005737)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)			Zonisamide(DB00909)	GTAAATACTCACCTGGTAATA	0.269																																						ENST00000317995.4																			0				endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16						c.e6+1		carbonic anhydrase VIII							81.0	91.0	88.0					8																	61137094		2203	4297	6500	SO:0001630	splice_region_variant	767				one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding	g.chr8:61137094A>C	L04656	CCDS6174.1	8q12.1	2012-08-21			ENSG00000178538	ENSG00000178538		"""Carbonic anhydrases"""	1382	protein-coding gene	gene with protein product		114815		CALS		17219437	Standard	NM_004056		Approved	CARP	uc003xtz.1	P35219	OTTHUMG00000165325	ENST00000317995.4:c.625+1T>G	8.37:g.61137094A>C						CA8_ENST00000528666.1_Splice_Site		NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN			6	890	-		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)						A8K0A5|B3KQZ7|Q32MY2	Splice_Site	SNP	ENST00000317995.4	37		CCDS6174.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.073005	0.76415	.	.	ENSG00000178538	ENST00000317995	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5582	0.84512	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CA8	61299648	1.000000	0.71417	0.986000	0.45419	0.803000	0.45373	8.491000	0.90468	2.308000	0.77769	0.533000	0.62120	.		0.269	CA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383445.1		Intron	11	101	0	0	0	1	0	11	101				
C5orf22	55322	broad.mit.edu	37	5	31534435	31534435	+	Silent	SNP	A	A	T			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr5:31534435A>T	ENST00000325366.9	+	2	265	c.138A>T	c.(136-138)gtA>gtT	p.V46V	DROSHA_ENST00000511367.2_5'Flank|DROSHA_ENST00000504361.1_5'Flank|DROSHA_ENST00000513349.1_5'Flank|C5orf22_ENST00000355907.3_De_novo_Start_OutOfFrame	NM_018356.2	NP_060826.2	Q49AR2	CE022_HUMAN	chromosome 5 open reading frame 22	46										kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						CCAGTAATGTAAGTTTTTTAC	0.408																																						ENST00000355907.3																			0				kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18								chromosome 5 open reading frame 22							168.0	155.0	159.0					5																	31534435		2203	4300	6503	SO:0001819	synonymous_variant	55322							g.chr5:31534435A>T	AK002055	CCDS3895.1	5p13.3	2012-02-22			ENSG00000082213	ENSG00000082213			25639	protein-coding gene	gene with protein product							Standard	NM_018356		Approved	FLJ11193	uc003jhj.4	Q49AR2	OTTHUMG00000131067	ENST00000325366.9:c.138A>T	5.37:g.31534435A>T						C5orf22_ENST00000325366.9_Silent_p.V46V				Q49AR2	CE022_HUMAN			0	265	+								Q8ND28|Q8WU61|Q9NUR1	Translation_Start_Site	SNP	ENST00000325366.9	37		CCDS3895.1																																																																																				0.408	C5orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253726.2	NM_018356		27	127	0	0	0	1	0	27	127				
ZNF823	55552	broad.mit.edu	37	19	11832577	11832577	+	Missense_Mutation	SNP	G	G	T			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr19:11832577G>T	ENST00000341191.6	-	4	1925	c.1772C>A	c.(1771-1773)gCa>gAa	p.A591E	ZNF823_ENST00000545749.1_Missense_Mutation_p.A409E	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	591					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						AGAACTCAATGCTTTCCCACA	0.403										HNSCC(68;0.2)																												ENST00000341191.6																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						c.(1771-1773)gCa>gAa		zinc finger protein 823							85.0	86.0	86.0					19																	11832577		2203	4300	6503	SO:0001583	missense	55552				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11832577G>T	X51760	CCDS45981.1	19p13.2	2013-01-08			ENSG00000197933	ENSG00000197933		"""Zinc fingers, C2H2-type"", ""-"""	30936	protein-coding gene	gene with protein product	"""ZFP 36 for a zinc finger protein"""						Standard	XM_006722789		Approved	HSZFP36	uc002msm.2	P16415	OTTHUMG00000156528	ENST00000341191.6:c.1772C>A	19.37:g.11832577G>T	ENSP00000340683:p.Ala591Glu	HNSCC(68;0.2)				ZNF823_ENST00000545749.1_Missense_Mutation_p.A409E	p.A591E	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN			4	1925	-			591					A0PJL4|B7Z8D4|Q6P4A9	Missense_Mutation	SNP	ENST00000341191.6	37	c.1772C>A	CCDS45981.1	.	.	.	.	.	.	.	.	.	.	-	12.17	1.857163	0.32791	.	.	ENSG00000197933	ENST00000545749;ENST00000341191	T;T	0.19669	2.13;2.13	0.672	0.672	0.17935	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29288	0.0729	L	0.52266	1.64	0.09310	N	1	P	0.52170	0.951	P	0.56434	0.798	T	0.10177	-1.0641	9	0.87932	D	0	.	6.098	0.20031	0.0:0.3251:0.6748:0.0	.	591	P16415	ZN823_HUMAN	E	409;591	ENSP00000440162:A409E;ENSP00000340683:A591E	ENSP00000340683:A591E	A	-	2	0	ZNF823	11693577	0.000000	0.05858	0.002000	0.10522	0.335000	0.28730	-0.048000	0.11944	0.623000	0.30267	0.305000	0.20034	GCA		0.403	ZNF823-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344516.2	NM_001080493		4	75	1	0	0.00024832	1	0.00024832	4	75				
H3F3AP4	440926	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000442996.1																			0																																																			0							g.chr2:175585079delA																													2.37:g.175585079delA			OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1924									0	217	+									RNA	DEL	ENST00000442996.1	37																																																																																						0.368	AC018890.6-002	KNOWN	basic	antisense	antisense	OTTHUMT00000334128.1			2	4						2	4	---	---	---	---
HSP90AB1	3326	broad.mit.edu	37	6	44216408	44216409	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr6:44216408_44216409delTT	ENST00000371554.1	+	2	256_257	c.42_43delTT	c.(40-45)acttttfs	p.F15fs	HSP90AB1_ENST00000353801.3_Frame_Shift_Del_p.F15fs|HSP90AB1_ENST00000371646.5_Frame_Shift_Del_p.F15fs			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	15					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGGTGGAGACTTTTGCCTTTCA	0.411																																						ENST00000371554.1																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33						c.(40-45)acttfs		heat shock protein 90kDa alpha (cytosolic), class B member 1																																				SO:0001589	frameshift_variant	3326				axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding	g.chr6:44216408_44216409delTT	AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"""Heat shock proteins / HSPC"""	5258	protein-coding gene	gene with protein product		140572	"""heat shock 90kD protein 1, beta"", ""heat shock 90kDa protein 1, beta"""	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.42_43delTT	6.37:g.44216410_44216411delTT	ENSP00000360609:p.Phe15fs					HSP90AB1_ENST00000371646.5_Frame_Shift_Del_p.TF14fs|HSP90AB1_ENST00000353801.3_Frame_Shift_Del_p.TF14fs	p.TF14fs			P08238	HS90B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		2	256_257	+	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		14					B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Frame_Shift_Del	DEL	ENST00000371554.1	37	c.42_43delTT	CCDS4909.1																																																																																				0.411	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355		11	115						11	115	---	---	---	---
RP11-596D21.1	0	broad.mit.edu	37	14	31756985	31756986	+	RNA	DEL	CA	CA	-			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr14:31756985_31756986delCA	ENST00000551799.1	+	0	400																											TTTTGTATTGCACAGTCATACA	0.475																																						ENST00000551799.1																			0																																																			0							g.chr14:31756985_31756986delCA																													14.37:g.31756987_31756988delCA														0	400	+									RNA	DEL	ENST00000551799.1	37																																																																																						0.475	RP11-596D21.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000409461.1			3	6						3	6	---	---	---	---
SAMD4A	23034	broad.mit.edu	37	14	55227159	55227159	+	Frame_Shift_Del	DEL	C	C	-			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr14:55227159delC	ENST00000554335.1	+	7	2120	c.1457delC	c.(1456-1458)gccfs	p.A486fs	SAMD4A_ENST00000555192.1_Frame_Shift_Del_p.A77fs|SAMD4A_ENST00000392067.3_Frame_Shift_Del_p.A486fs|SAMD4A_ENST00000357634.3_Frame_Shift_Del_p.A485fs|SAMD4A_ENST00000251091.5_Frame_Shift_Del_p.A398fs			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	486					negative regulation of translation (GO:0017148)|positive regulation of translation (GO:0045727)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|translation repressor activity (GO:0030371)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						CTGGCCGTCGCCCCCCTGCCA	0.687																																						ENST00000251091.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						c.(1192-1194)gcfs		sterile alpha motif domain containing 4A							4.0	6.0	5.0					14																	55227159		1978	3900	5878	SO:0001589	frameshift_variant	23034				positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity	g.chr14:55227159delC	AB028976	CCDS32084.1, CCDS55917.1, CCDS55918.1, CCDS32084.2, CCDS55917.2	14q22.2	2013-01-10	2006-01-27	2006-01-27	ENSG00000020577	ENSG00000020577		"""Sterile alpha motif (SAM) domain containing"""	23023	protein-coding gene	gene with protein product	"""smaug homolog (Drosophila)"""	610747	"""sterile alpha motif domain containing 4"""	SAMD4		16221671	Standard	NM_001161577		Approved	KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1	uc001xbb.4	Q9UPU9	OTTHUMG00000170999	ENST00000554335.1:c.1457delC	14.37:g.55227159delC	ENSP00000452535:p.Ala486fs					SAMD4A_ENST00000357634.3_Frame_Shift_Del_p.A485fs|SAMD4A_ENST00000554335.1_Frame_Shift_Del_p.A486fs|SAMD4A_ENST00000392067.3_Frame_Shift_Del_p.A486fs|SAMD4A_ENST00000555192.1_Frame_Shift_Del_p.A77fs	p.A398fs	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN			5	1498	+			486					A8MPZ5|Q0VA96|Q6PEW4	Frame_Shift_Del	DEL	ENST00000554335.1	37	c.1193delC	CCDS32084.2																																																																																				0.687	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411186.1	NM_015589		2	4						2	4	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102293062	102293064	+	RNA	DEL	CTC	CTC	-	rs4965539|rs62026972	byFrequency	TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr15:102293062_102293064delCTC	ENST00000561463.1	+	0	1108_1110									DNM1 pseudogene 47																		AGTTCATCTTCTCAGAGCTGCTG	0.576																																						ENST00000561463.1																			0																																																			0							g.chr15:102293062_102293064delCTC	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102293062_102293064delCTC														0	1108_1110	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.576	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		2	4						2	4	---	---	---	---
HELZ2	85441	broad.mit.edu	37	20	62203693	62203693	+	Frame_Shift_Del	DEL	C	C	-			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr20:62203693delC	ENST00000467148.1	-	1	115	c.46delG	c.(46-48)gacfs	p.D16fs	HELZ2_ENST00000479540.1_5'UTR	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	16					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GTGAGCAGGTCCCCCCGCTGG	0.731																																						ENST00000467148.1																			0											c.(46-48)acfs		helicase with zinc finger 2, transcriptional coactivator							7.0	8.0	8.0					20																	62203693		2147	4230	6377	SO:0001589	frameshift_variant	85441							g.chr20:62203693delC	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.46delG	20.37:g.62203693delC	ENSP00000417401:p.Asp16fs					HELZ2_ENST00000479540.1_5'UTR	p.D16fs	NM_001037335.2	NP_001032412.2					1	115	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Frame_Shift_Del	DEL	ENST00000467148.1	37	c.46delG	CCDS33508.1																																																																																				0.731	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		2	4						2	4	---	---	---	---
