#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
HIST1H2BK	85236	broad.mit.edu	37	6	27114499	27114499	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr6:27114499C>T	ENST00000356950.1	-	1	78	c.79G>A	c.(79-81)Ggc>Agc	p.G27S	MIR3143_ENST00000584253.1_RNA|HIST1H2AH_ENST00000377459.1_5'Flank|HIST1H2BK_ENST00000396891.4_Missense_Mutation_p.G27S			O60814	H2B1K_HUMAN	histone cluster 1, H2bk	27					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CGCTTCTTGCCGTCCTTCTTC	0.597																																						ENST00000396891.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						c.(79-81)Ggc>Agc		histone cluster 1, H2bk							179.0	145.0	157.0					6																	27114499		2203	4300	6503	SO:0001583	missense	85236				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27114499C>T	AJ223352	CCDS4621.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000197903	ENSG00000197903		"""Histones / Replication-dependent"""	13954	protein-coding gene	gene with protein product		615045	"""H2B histone family, member T"", ""histone 1, H2bk"""	H2BFT		12408966	Standard	NM_080593		Approved	H2BFAiii	uc003nix.2	O60814	OTTHUMG00000014473	ENST00000356950.1:c.79G>A	6.37:g.27114499C>T	ENSP00000349430:p.Gly27Ser					HIST1H2BK_ENST00000356950.1_Missense_Mutation_p.G27S	p.G27S	NM_080593.2	NP_542160.1	O60814	H2B1K_HUMAN			1	120	-			27					A8K7P7|Q2VPI7	Missense_Mutation	SNP	ENST00000356950.1	37	c.79G>A	CCDS4621.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.487925	0.64074	.	.	ENSG00000197903	ENST00000396891;ENST00000356950	T;T	0.22539	1.95;1.95	3.82	3.82	0.43975	Histone-fold (2);	.	.	.	.	T	0.09379	0.0231	L	0.46947	1.48	0.44946	D	0.997962	B	0.30146	0.27	B	0.08055	0.003	T	0.06356	-1.0831	9	0.46703	T	0.11	.	14.0417	0.64678	0.0:1.0:0.0:0.0	.	27	O60814	H2B1K_HUMAN	S	27	ENSP00000380100:G27S;ENSP00000349430:G27S	ENSP00000349430:G27S	G	-	1	0	HIST1H2BK	27222478	1.000000	0.71417	1.000000	0.80357	0.313000	0.28021	5.099000	0.64554	2.080000	0.62538	0.650000	0.86243	GGC		0.597	HIST1H2BK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040141.1	NM_080593		4	137	0	0	0	1	0	4	137				
AP2A2	161	broad.mit.edu	37	11	994173	994173	+	Silent	SNP	G	G	A			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr11:994173G>A	ENST00000448903.2	+	14	2025	c.1884G>A	c.(1882-1884)gaG>gaA	p.E628E	AP2A2_ENST00000332231.5_Silent_p.E629E|AP2A2_ENST00000534328.1_Intron	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	628					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		CAGACCTGGAGGACACCAAGC	0.647																																						ENST00000448903.2																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21						c.(1882-1884)gaG>gaA		adaptor-related protein complex 2, alpha 2 subunit							61.0	77.0	72.0					11																	994173		2070	4172	6242	SO:0001819	synonymous_variant	161				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity	g.chr11:994173G>A	AB020706	CCDS44512.1, CCDS73234.1	11p15.5	2008-07-18			ENSG00000183020	ENSG00000183020			562	protein-coding gene	gene with protein product	"""alpha-adaptin C; Huntingtin interacting protein J"", ""adaptin, alpha B"", ""clathrin-associated/assembly/adaptor protein, large, alpha 2"""	607242		CLAPA2, ADTAB		9700202, 2564002	Standard	NM_012305		Approved	DKFZP564D1864, HYPJ, KIAA0899, HIP9	uc001lst.2	O94973	OTTHUMG00000165627	ENST00000448903.2:c.1884G>A	11.37:g.994173G>A						AP2A2_ENST00000534328.1_Intron|AP2A2_ENST00000332231.5_Silent_p.E629E	p.E628E	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)	14	2025	+		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	628					O75403|Q53ET1|Q96SI8	Silent	SNP	ENST00000448903.2	37	c.1884G>A	CCDS44512.1																																																																																				0.647	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385431.2	NM_012305		16	55	0	0	0	1	0	16	55				
KIF13A	63971	broad.mit.edu	37	6	17764397	17764397	+	Missense_Mutation	SNP	C	C	G			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr6:17764397C>G	ENST00000259711.6	-	39	5467	c.5362G>C	c.(5362-5364)Gag>Cag	p.E1788Q	KIF13A_ENST00000378816.5_Missense_Mutation_p.E1753Q|KIF13A_ENST00000378826.2_Missense_Mutation_p.E1753Q|KIF13A_ENST00000378843.2_Missense_Mutation_p.E1740Q|KIF13A_ENST00000378814.5_Missense_Mutation_p.E1740Q	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1788					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TGGTCATTCTCTAACTTGGAA	0.512																																						ENST00000378814.5																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(5218-5220)Gag>Cag		kinesin family member 13A							53.0	55.0	55.0					6																	17764397		1938	4134	6072	SO:0001583	missense	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17764397C>G	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.5362G>C	6.37:g.17764397C>G	ENSP00000259711:p.Glu1788Gln					KIF13A_ENST00000378816.5_Missense_Mutation_p.E1753Q|KIF13A_ENST00000378843.2_Missense_Mutation_p.E1740Q|KIF13A_ENST00000378826.2_Missense_Mutation_p.E1753Q|KIF13A_ENST00000259711.6_Missense_Mutation_p.E1788Q	p.E1740Q	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		37	5217	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	1788					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	c.5218G>C	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.961684	0.34659	.	.	ENSG00000137177	ENST00000378814;ENST00000502297;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	T;T;T;T;T;T	0.74947	-0.76;1.66;-0.89;-0.78;-0.77;-0.78	5.78	3.06	0.35304	.	0.468030	0.22635	N	0.057539	T	0.41096	0.1144	L	0.29908	0.895	0.09310	N	0.999999	B;B;B;B	0.18968	0.032;0.009;0.005;0.032	B;B;B;B	0.24701	0.055;0.041;0.018;0.055	T	0.35276	-0.9795	10	0.42905	T	0.14	.	7.0908	0.25283	0.1216:0.6824:0.0:0.196	.	1740;1753;1788;1740	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;KI13A_HUMAN;.	Q	1740;792;1788;1753;1740;1753	ENSP00000368091:E1740Q;ENSP00000425616:E792Q;ENSP00000259711:E1788Q;ENSP00000368103:E1753Q;ENSP00000368120:E1740Q;ENSP00000368093:E1753Q	ENSP00000259711:E1788Q	E	-	1	0	KIF13A	17872376	0.000000	0.05858	0.377000	0.26055	0.868000	0.49771	0.449000	0.21744	0.466000	0.27193	-0.229000	0.12294	GAG		0.512	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			11	21	0	0	0	1	0	11	21				
BAZ2B	29994	broad.mit.edu	37	2	160193564	160193564	+	Silent	SNP	C	C	A			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr2:160193564C>A	ENST00000392783.2	-	33	6180	c.5685G>T	c.(5683-5685)ggG>ggT	p.G1895G	BAZ2B_ENST00000392782.1_Silent_p.G1859G|BAZ2B_ENST00000343439.5_Silent_p.G1795G|BAZ2B_ENST00000355831.2_Silent_p.G1861G	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1895					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						ATACCCTGAGCCCTGGAGCAA	0.408																																						ENST00000392783.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						c.(5683-5685)ggG>ggT		bromodomain adjacent to zinc finger domain, 2B							123.0	116.0	118.0					2																	160193564		1862	4103	5965	SO:0001819	synonymous_variant	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160193564C>A	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.5685G>T	2.37:g.160193564C>A						BAZ2B_ENST00000392782.1_Silent_p.G1859G|BAZ2B_ENST00000355831.2_Silent_p.G1861G|BAZ2B_ENST00000343439.5_Silent_p.G1795G	p.G1895G	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN			33	6180	-			1895					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Silent	SNP	ENST00000392783.2	37	c.5685G>T	CCDS2209.2																																																																																				0.408	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			6	58	1	0	0.307466	1	0.307466	6	58				
TMEM39B	55116	broad.mit.edu	37	1	32557412	32557412	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr1:32557412C>T	ENST00000336294.5	+	6	873	c.727C>T	c.(727-729)Cgg>Tgg	p.R243W	TMEM39B_ENST00000427288.1_Missense_Mutation_p.R128W|TMEM39B_ENST00000456834.2_Missense_Mutation_p.A191V|TMEM39B_ENST00000373634.4_Missense_Mutation_p.R44W|TMEM39B_ENST00000487305.1_3'UTR	NM_018056.2	NP_060526.2	Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	243						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CCTGACACTGCGGGAGACGTG	0.647																																						ENST00000427288.1																			0				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11						c.(382-384)Cgg>Tgg		transmembrane protein 39B							73.0	65.0	68.0					1																	32557412		2203	4300	6503	SO:0001583	missense	55116					integral to membrane		g.chr1:32557412C>T	AL136695	CCDS351.2	1p35.1	2008-02-05			ENSG00000121775	ENSG00000121775			25510	protein-coding gene	gene with protein product						12477932	Standard	NM_018056		Approved	FLJ10315	uc010ogv.2	Q9GZU3	OTTHUMG00000004020	ENST00000336294.5:c.727C>T	1.37:g.32557412C>T	ENSP00000338165:p.Arg243Trp					TMEM39B_ENST00000336294.5_Missense_Mutation_p.R243W|TMEM39B_ENST00000456834.2_Missense_Mutation_p.A191V|TMEM39B_ENST00000487305.1_3'UTR|TMEM39B_ENST00000373634.4_Missense_Mutation_p.R44W	p.R128W			Q9GZU3	TM39B_HUMAN			7	862	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	243					B4DKN8|B4DQE6|B4DTN8|D3DPP4|Q6IA44	Missense_Mutation	SNP	ENST00000336294.5	37	c.382C>T	CCDS351.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.62|17.62	3.434403|3.434403	0.62955|0.62955	.|.	.|.	ENSG00000121775|ENSG00000121775	ENST00000456834|ENST00000336294;ENST00000373634;ENST00000427288	.|.	.|.	.|.	5.43|5.43	1.96|1.96	0.26148|0.26148	.|.	.|0.186863	.|0.46145	.|D	.|0.000320	T|T	0.59770|0.59770	0.2218|0.2218	L|L	0.50333|0.50333	1.59|1.59	0.29362|0.29362	N|N	0.864622|0.864622	.|D;D;D	.|0.89917	.|0.995;1.0;0.995	.|P;D;P	.|0.70935	.|0.877;0.971;0.877	T|T	0.60525|0.60525	-0.7246|-0.7246	6|9	0.87932|0.59425	D|D	0|0.04	-21.6887|-21.6887	13.9042|13.9042	0.63823|0.63823	0.5108:0.4892:0.0:0.0|0.5108:0.4892:0.0:0.0	.|.	.|243;128;116	.|Q9GZU3;B4DTN8;Q9NW51	.|TM39B_HUMAN;.;.	V|W	191|243;44;128	.|.	ENSP00000390889:A163V|ENSP00000338165:R243W	A|R	+|+	2|1	0|2	TMEM39B|TMEM39B	32329999|32329999	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.409000|0.409000	0.31022|0.31022	1.600000|1.600000	0.36762|0.36762	0.733000|0.733000	0.32492|0.32492	0.655000|0.655000	0.94253|0.94253	GCG|CGG		0.647	TMEM39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011489.2	NM_018056		3	31	0	0	0	1	0	3	31				
SDHAP3	728609	broad.mit.edu	37	5	1593264	1593264	+	lincRNA	SNP	C	C	T	rs111700178		TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr5:1593264C>T	ENST00000605200.1	+	0	0				SDHAP3_ENST00000436493.2_RNA																							AGGGCACATGCCTGACCAAAG	0.557																																						ENST00000436493.2																			0																																																			0							g.chr5:1593264C>T																													5.37:g.1593264C>T														0	361	-									RNA	SNP	ENST00000605200.1	37																																																																																						0.557	CTD-2012J19.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469651.1			3	42	0	0	0	1	0	3	42				
PYHIN1	149628	broad.mit.edu	37	1	158911890	158911890	+	Missense_Mutation	SNP	C	C	G			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr1:158911890C>G	ENST00000368140.1	+	5	948	c.703C>G	c.(703-705)Caa>Gaa	p.Q235E	PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392252.3_Missense_Mutation_p.Q226E|PYHIN1_ENST00000392254.2_Missense_Mutation_p.Q235E|PYHIN1_ENST00000368138.3_Missense_Mutation_p.Q226E	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	235	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				cell cycle (GO:0007049)	nucleus (GO:0005634)				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AGAAAATGAGCAAAGAAGAAT	0.348																																						ENST00000368140.1																			0				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(703-705)Caa>Gaa		pyrin and HIN domain family, member 1							71.0	74.0	73.0					1																	158911890		2203	4300	6503	SO:0001583	missense	149628				cell cycle	nuclear speck		g.chr1:158911890C>G	AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.703C>G	1.37:g.158911890C>G	ENSP00000357122:p.Gln235Glu					PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000368138.3_Missense_Mutation_p.Q226E|PYHIN1_ENST00000392254.2_Missense_Mutation_p.Q235E|PYHIN1_ENST00000392252.3_Missense_Mutation_p.Q226E	p.Q235E	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN			5	948	+	all_hematologic(112;0.0378)		235			HIN-200.		Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	ENST00000368140.1	37	c.703C>G	CCDS1178.1	.	.	.	.	.	.	.	.	.	.	C	3.060	-0.193419	0.06259	.	.	ENSG00000163564	ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252	T;T;T;T	0.13538	2.58;2.58;2.58;2.58	2.07	-0.268	0.12934	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.02119	0.0066	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.17268	0.007;0.004;0.021;0.009	B;B;B;B	0.15484	0.008;0.01;0.008;0.013	T	0.45220	-0.9276	9	0.48119	T	0.1	.	2.497	0.04624	0.4539:0.335:0.2111:0.0	.	226;235;226;235	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9	.;.;.;IFIX_HUMAN	E	235;226;235;226	ENSP00000357122:Q235E;ENSP00000357120:Q226E;ENSP00000376083:Q235E;ENSP00000376082:Q226E	ENSP00000357120:Q226E	Q	+	1	0	PYHIN1	157178514	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.120000	0.15647	-0.084000	0.12595	-0.262000	0.10625	CAA		0.348	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501		8	19	0	0	0	1	0	8	19				
MED13	9969	broad.mit.edu	37	17	60038232	60038232	+	Missense_Mutation	SNP	T	T	A			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr17:60038232T>A	ENST00000397786.2	-	23	5552	c.5476A>T	c.(5476-5478)Aat>Tat	p.N1826Y		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1826					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AAATACCTATTTGGAACATCG	0.289																																						ENST00000397786.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(5476-5478)Aat>Tat		mediator complex subunit 13							64.0	59.0	60.0					17																	60038232		1812	4077	5889	SO:0001583	missense	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60038232T>A	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.5476A>T	17.37:g.60038232T>A	ENSP00000380888:p.Asn1826Tyr						p.N1826Y	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN			23	5552	-			1826					B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	c.5476A>T	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.287600	0.80803	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	D	0.84370	-1.84	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.92368	0.7578	M	0.81497	2.545	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.93352	0.6719	10	0.72032	D	0.01	.	15.3239	0.74144	0.0:0.0:0.0:1.0	.	1826	Q9UHV7	MED13_HUMAN	Y	1826;1825	ENSP00000380888:N1826Y	ENSP00000262436:N1825Y	N	-	1	0	MED13	57393014	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.771000	0.62318	2.016000	0.59253	0.519000	0.50382	AAT		0.289	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		10	7	0	0	0	1	0	10	7				
SVEP1	79987	broad.mit.edu	37	9	113221318	113221318	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr9:113221318G>T	ENST00000401783.2	-	19	3734	c.3398C>A	c.(3397-3399)cCt>cAt	p.P1133H	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.P1133H|SVEP1_ENST00000374469.1_Missense_Mutation_p.P1110H	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1133					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCCTGCATTAGGTTGGTAATA	0.463																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(3397-3399)cCt>cAt		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							129.0	127.0	128.0					9																	113221318		1919	4124	6043	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113221318G>T	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.3398C>A	9.37:g.113221318G>T	ENSP00000384917:p.Pro1133His					SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.P1133H|SVEP1_ENST00000374469.1_Missense_Mutation_p.P1110H	p.P1133H	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			19	3734	-			1133					Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.3398C>A	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587041	0.66105	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728	T;T;T	0.17213	2.29;2.29;2.29	5.6	5.6	0.85130	Tyrosine-protein kinase ephrin type A/B receptor-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.45915	0.1366	M	0.79926	2.475	0.51233	D	0.999916	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.24119	-1.0169	10	0.25751	T	0.34	.	19.6126	0.95616	0.0:0.0:1.0:0.0	.	1133;1133	E9PBN8;Q4LDE5	.;SVEP1_HUMAN	H	1133;1110;1133	ENSP00000384917:P1133H;ENSP00000363593:P1110H;ENSP00000304118:P1133H	ENSP00000304118:P1133H	P	-	2	0	SVEP1	112261139	1.000000	0.71417	0.904000	0.35570	0.116000	0.19942	9.410000	0.97335	2.630000	0.89119	0.591000	0.81541	CCT		0.463	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				6	66	1	0	8.12818e-05	1	8.53459e-05	6	66				
CNTNAP1	8506	broad.mit.edu	37	17	40837076	40837076	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr17:40837076G>A	ENST00000264638.4	+	4	648	c.431G>A	c.(430-432)cGc>cAc	p.R144H	CTD-3193K9.3_ENST00000592440.1_RNA|CCR10_ENST00000591765.1_5'Flank	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	144	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TTCACTGCGCGCTACATCCGC	0.622																																						ENST00000264638.4																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(430-432)cGc>cAc		contactin associated protein 1							98.0	83.0	88.0					17																	40837076		2203	4300	6503	SO:0001583	missense	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40837076G>A	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.431G>A	17.37:g.40837076G>A	ENSP00000264638:p.Arg144His					CTD-3193K9.3_ENST00000592440.1_RNA	p.R144H	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	4	648	+		Breast(137;0.000143)	144			F5/8 type C.			Missense_Mutation	SNP	ENST00000264638.4	37	c.431G>A	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.784848	0.90282	.	.	ENSG00000108797	ENST00000264638	D	0.99194	-5.54	5.52	5.52	0.82312	Concanavalin A-like lectin/glucanase (1);Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.64402	D	0.000005	D	0.99474	0.9813	M	0.92122	3.275	0.35440	D	0.794776	D	0.89917	1.0	D	0.74348	0.983	D	0.99940	1.1399	10	0.87932	D	0	.	19.4357	0.94794	0.0:0.0:1.0:0.0	.	144	P78357	CNTP1_HUMAN	H	144	ENSP00000264638:R144H	ENSP00000264638:R144H	R	+	2	0	CNTNAP1	38090602	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	5.165000	0.64959	2.586000	0.87340	0.561000	0.74099	CGC		0.622	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		4	46	0	0	0	1	0	4	46				
TIE1	7075	broad.mit.edu	37	1	43783580	43783580	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr1:43783580C>T	ENST00000372476.3	+	17	2838	c.2759C>T	c.(2758-2760)gCc>gTc	p.A920V	TIE1_ENST00000433781.2_Missense_Mutation_p.A565V|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	920	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)	p.A920V(2)		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)				ATTGAATATGCCCCCTACGGG	0.527																																						ENST00000372476.3																			2	Substitution - Missense(2)	p.A920V(2)	urinary_tract(2)	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.(2758-2760)gCc>gTc		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							280.0	295.0	290.0					1																	43783580		2203	4300	6503	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43783580C>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.2759C>T	1.37:g.43783580C>T	ENSP00000361554:p.Ala920Val					TIE1_ENST00000433781.2_Missense_Mutation_p.A565V|TIE1_ENST00000473014.1_3'UTR	p.A920V	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN			17	2838	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	920			Protein kinase.		B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.2759C>T	CCDS482.1	.	.	.	.	.	.	.	.	.	.	C	35	5.505865	0.96371	.	.	ENSG00000066056	ENST00000372476;ENST00000372475;ENST00000536913;ENST00000433781	T;T	0.68331	-0.32;-0.32	6.06	6.06	0.98353	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.39985	N	0.001215	T	0.72350	0.3449	N	0.13198	0.31	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.76130	-0.3072	10	0.72032	D	0.01	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	875;565;920	B4DTW8;B4DKW0;P35590	.;.;TIE1_HUMAN	V	920;323;203;565	ENSP00000361554:A920V;ENSP00000411728:A565V	ENSP00000361553:A323V	A	+	2	0	TIE1	43556167	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.757000	0.85209	2.882000	0.98803	0.655000	0.94253	GCC		0.527	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		6	288	0	0	0	1	0	6	288				
PAX6	5080	broad.mit.edu	37	11	31815294	31815294	+	Silent	SNP	C	C	T			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr11:31815294C>T	ENST00000379132.3	-	9	1102	c.822G>A	c.(820-822)caG>caA	p.Q274Q	PAX6_ENST00000379107.2_Silent_p.Q288Q|PAX6_ENST00000379129.2_Silent_p.Q288Q|PAX6_ENST00000241001.8_Silent_p.Q274Q|PAX6_ENST00000419022.1_Silent_p.Q288Q|PAX6_ENST00000379115.4_Silent_p.Q288Q|PAX6_ENST00000379111.2_Silent_p.Q274Q|PAX6_ENST00000379123.5_Silent_p.Q274Q			P26367	PAX6_HUMAN	paired box 6	274					astrocyte differentiation (GO:0048708)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|cerebral cortex regionalization (GO:0021796)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|cornea development in camera-type eye (GO:0061303)|dorsal/ventral axis specification (GO:0009950)|embryonic camera-type eye morphogenesis (GO:0048596)|eye development (GO:0001654)|eye photoreceptor cell development (GO:0042462)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain-midbrain boundary formation (GO:0021905)|glucose homeostasis (GO:0042593)|hindbrain development (GO:0030902)|iris morphogenesis (GO:0061072)|keratinocyte differentiation (GO:0030216)|lacrimal gland development (GO:0032808)|lens development in camera-type eye (GO:0002088)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|neuron migration (GO:0001764)|oligodendrocyte cell fate specification (GO:0021778)|organ morphogenesis (GO:0009887)|pancreatic A cell development (GO:0003322)|pituitary gland development (GO:0021983)|positive regulation of cell fate specification (GO:0042660)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of gene expression (GO:0010628)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to organelle (GO:0033365)|protein ubiquitination (GO:0016567)|regulation of cell migration (GO:0030334)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment (GO:0021918)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|salivary gland morphogenesis (GO:0007435)|signal transduction involved in regulation of gene expression (GO:0023019)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell differentiation (GO:0003309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					CCTGTCTTCTCTGATTCCTCA	0.473									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation																													ENST00000419022.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35						c.(862-864)caG>caA		paired box 6							275.0	280.0	278.0					11																	31815294		2202	4299	6501	SO:0001819	synonymous_variant	5080	Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation	Familial Cancer Database	WAGR syndrome	blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity	g.chr11:31815294C>T	AY707088	CCDS31451.1, CCDS31452.1	11p13	2014-09-17	2007-07-12		ENSG00000007372	ENSG00000007372		"""Paired boxes"", ""Homeoboxes / PRD class"""	8620	protein-coding gene	gene with protein product	"""aniridia, keratitis"""	607108	"""paired box gene 6 (aniridia, keratitis)"""	AN2		1302030	Standard	NM_001127612		Approved	D11S812E, AN, WAGR	uc021qfm.1	P26367	OTTHUMG00000041447	ENST00000379132.3:c.822G>A	11.37:g.31815294C>T						PAX6_ENST00000379107.2_Silent_p.Q288Q|PAX6_ENST00000379115.4_Silent_p.Q288Q|PAX6_ENST00000379111.2_Silent_p.Q274Q|PAX6_ENST00000379123.5_Silent_p.Q274Q|PAX6_ENST00000379129.2_Silent_p.Q288Q|PAX6_ENST00000379132.3_Silent_p.Q274Q|PAX6_ENST00000241001.8_Silent_p.Q274Q	p.Q288Q	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN			11	1332	-	Lung SC(675;0.225)		274			Pro/Ser/Thr-rich.		Q6N006|Q99413	Silent	SNP	ENST00000379132.3	37	c.864G>A	CCDS31451.1																																																																																				0.473	PAX6-008	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000099293.4	NM_001604		48	45	0	0	0	1	0	48	45				
ZNF662	389114	broad.mit.edu	37	3	42956594	42956594	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr3:42956594G>A	ENST00000541208.1	+	5	1398	c.1029G>A	c.(1027-1029)tgG>tgA	p.W343*	ZNF662_ENST00000328199.6_Nonsense_Mutation_p.W369*|ZNF662_ENST00000440367.2_Nonsense_Mutation_p.W343*|ZNF662_ENST00000422021.1_Intron|KRBOX1_ENST00000426937.1_Intron			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	343					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(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		GCTTCATGTGGAACTCAGATC	0.488																																						ENST00000541208.1																			0				breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15						c.(1027-1029)tgG>tgA		zinc finger protein 662							89.0	85.0	86.0					3																	42956594		2203	4300	6503	SO:0001587	stop_gained	389114				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:42956594G>A	AK127779	CCDS2708.1, CCDS46807.1	3p22.1	2013-01-08			ENSG00000182983	ENSG00000182983		"""Zinc fingers, C2H2-type"", ""-"""	31930	protein-coding gene	gene with protein product							Standard	NM_207404		Approved	FLJ45880	uc003cmk.2	Q6ZS27	OTTHUMG00000133041	ENST00000541208.1:c.1029G>A	3.37:g.42956594G>A	ENSP00000446208:p.Trp343*					ZNF662_ENST00000440367.2_Nonsense_Mutation_p.W343*|KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000328199.6_Nonsense_Mutation_p.W369*|ZNF662_ENST00000422021.1_Intron	p.W343*			Q6ZS27	ZN662_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.217)	5	1398	+			343					A1A4T9|F8W7S8|Q6ZNF8|Q6ZQW8	Nonsense_Mutation	SNP	ENST00000541208.1	37	c.1029G>A	CCDS2708.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.349235	0.82132	.	.	ENSG00000182983	ENST00000440367;ENST00000328199;ENST00000541208	.	.	.	3.13	2.14	0.27477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	3.3415	0.07120	0.1406:0.0:0.6031:0.2563	.	.	.	.	X	343;369;343	.	ENSP00000329264:W369X	W	+	3	0	ZNF662	42931598	0.009000	0.17119	1.000000	0.80357	0.982000	0.71751	1.393000	0.34497	1.780000	0.52325	0.555000	0.69702	TGG		0.488	ZNF662-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256646.4	NM_207404		3	45	0	0	0	1	0	3	45				
DOCK5	80005	broad.mit.edu	37	8	25246690	25246690	+	Silent	SNP	G	G	A	rs372464639	byFrequency	TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr8:25246690G>A	ENST00000276440.7	+	41	4259	c.4215G>A	c.(4213-4215)gcG>gcA	p.A1405A		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1405	DHR-2.				positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TCCCCAATGCGGAGAAGATGA	0.542													G|||	2	0.000399361	0.0008	0.0	5008	,	,		19724	0.001		0.0	False		,,,				2504	0.0				Pancreas(145;34 1887 3271 10937 30165)	ENST00000276440.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(4213-4215)gcG>gcA		dedicator of cytokinesis 5		G		1,4405	2.1+/-5.4	0,1,2202	136.0	121.0	126.0		4215	-7.0	0.9	8		126	0,8600		0,0,4300	no	coding-synonymous	DOCK5	NM_024940.6		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1405/1871	25246690	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25246690G>A		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.4215G>A	8.37:g.25246690G>A							p.A1405A	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	41	4259	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	1405			DHR-2.		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Silent	SNP	ENST00000276440.7	37	c.4215G>A	CCDS6047.1																																																																																				0.542	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		35	50	0	0	0	1	0	35	50				
PTPRH	5794	broad.mit.edu	37	19	55699455	55699455	+	Silent	SNP	G	G	A	rs149252651		TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr19:55699455G>A	ENST00000376350.3	-	13	2488	c.2466C>T	c.(2464-2466)gaC>gaT	p.D822D	PTPRH_ENST00000263434.5_Silent_p.D644D	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	822	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.D822D(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CCTGGTACTTGTCTGCAAAAC	0.632																																						ENST00000376350.3																			1	Substitution - coding silent(1)	p.D822D(1)	large_intestine(1)	breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67						c.(2464-2466)gaC>gaT		protein tyrosine phosphatase, receptor type, H		G	,	1,4405		0,1,2202	148.0	113.0	125.0		1932,2466	-3.0	0.2	19	dbSNP_134	125	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PTPRH	NM_001161440.1,NM_002842.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	644/938,822/1116	55699455	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55699455G>A		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.2466C>T	19.37:g.55699455G>A						PTPRH_ENST00000263434.5_Silent_p.D644D	p.D822D	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	13	2488	-		Renal(1328;0.245)	822			Tyrosine-protein phosphatase.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Silent	SNP	ENST00000376350.3	37	c.2466C>T	CCDS33110.1																																																																																				0.632	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			24	39	0	0	0	1	0	24	39				
KCNH5	27133	broad.mit.edu	37	14	63447803	63447803	+	Silent	SNP	G	G	A			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr14:63447803G>A	ENST00000322893.7	-	6	997	c.729C>T	c.(727-729)aaC>aaT	p.N243N	KCNH5_ENST00000394968.1_Silent_p.N185N|KCNH5_ENST00000394964.2_Silent_p.N185N|KCNH5_ENST00000420622.2_Silent_p.N243N	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	243					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AGGCTATGTTGTTCTGCTTTG	0.413																																						ENST00000322893.7																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(727-729)aaC>aaT		potassium voltage-gated channel, subfamily H (eag-related), member 5							78.0	80.0	79.0					14																	63447803		2203	4300	6503	SO:0001819	synonymous_variant	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63447803G>A	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.729C>T	14.37:g.63447803G>A						KCNH5_ENST00000394968.1_Silent_p.N185N|KCNH5_ENST00000394964.2_Silent_p.N185N|KCNH5_ENST00000420622.2_Silent_p.N243N	p.N243N	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	6	997	-			243					C9JP98	Silent	SNP	ENST00000322893.7	37	c.729C>T	CCDS9756.1																																																																																				0.413	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		11	33	0	0	0	1	0	11	33				
TP53	7157	broad.mit.edu	37	17	7578443	7578443	+	Missense_Mutation	SNP	A	A	G			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr17:7578443A>G	ENST00000269305.4	-	5	676	c.487T>C	c.(487-489)Tac>Cac	p.Y163H	TP53_ENST00000359597.4_Missense_Mutation_p.Y163H|TP53_ENST00000445888.2_Missense_Mutation_p.Y163H|TP53_ENST00000413465.2_Missense_Mutation_p.Y163H|TP53_ENST00000455263.2_Missense_Mutation_p.Y163H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.Y163H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	163	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y163N(20)|p.Y163H(17)|p.0?(8)|p.Y163D(5)|p.I162_Y163>N(3)|p.Y163fs*7(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.I30_Y31>N(1)|p.I162_Y163delIY(1)|p.I69_Y70>N(1)|p.Y70N(1)|p.A161fs*7(1)|p.Y31N(1)|p.Y163fs*14(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Y163fs*18(1)|p.Y70D(1)|p.Y31D(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GACTGCTTGTAGATGGCCATG	0.622		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		71	Substitution - Missense(46)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Complex - deletion inframe(5)|Insertion - Frameshift(1)	p.Y163N(20)|p.Y163H(17)|p.0?(8)|p.Y163D(5)|p.I162_Y163>N(3)|p.Y163fs*7(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.I30_Y31>N(1)|p.I162_Y163delIY(1)|p.I69_Y70>N(1)|p.Y70N(1)|p.A161fs*7(1)|p.Y31N(1)|p.Y163fs*14(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Y163fs*18(1)|p.Y70D(1)|p.Y31D(1)	breast(14)|lung(12)|liver(8)|skin(6)|large_intestine(4)|haematopoietic_and_lymphoid_tissue(4)|oesophagus(4)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|ovary(3)|stomach(2)|adrenal_gland(1)|biliary_tract(1)|prostate(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(487-489)Tac>Cac	Other conserved DNA damage response genes	tumor protein p53							53.0	54.0	53.0					17																	7578443		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578443A>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.487T>C	17.37:g.7578443A>G	ENSP00000269305:p.Tyr163His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.Y163H|TP53_ENST00000413465.2_Missense_Mutation_p.Y163H|TP53_ENST00000359597.4_Missense_Mutation_p.Y163H|TP53_ENST00000455263.2_Missense_Mutation_p.Y163H|TP53_ENST00000269305.4_Missense_Mutation_p.Y163H	p.Y163H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	619	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	163		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.487T>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	15.72	2.916592	0.52546	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99869	-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33	5.59	4.52	0.55395	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.062225	0.64402	D	0.000003	D	0.99843	0.9928	M	0.89478	3.035	0.53005	D	0.999963	D;D;D;D;D;D;D	0.89917	0.997;1.0;0.998;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D	0.91635	0.996;0.999;0.983;0.999;0.999;0.999;0.994	D	0.97202	0.9865	10	0.87932	D	0	-16.6607	9.9777	0.41795	0.9196:0.0:0.0804:0.0	.	124;163;163;70;163;163;163	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	163;163;163;163;163;163;152;70;31;70;31;163	ENSP00000410739:Y163H;ENSP00000352610:Y163H;ENSP00000269305:Y163H;ENSP00000398846:Y163H;ENSP00000391127:Y163H;ENSP00000391478:Y163H;ENSP00000425104:Y31H;ENSP00000423862:Y70H;ENSP00000424104:Y163H	ENSP00000269305:Y163H	Y	-	1	0	TP53	7519168	1.000000	0.71417	0.998000	0.56505	0.047000	0.14425	9.287000	0.95975	1.067000	0.40740	-0.256000	0.11100	TAC		0.622	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		18	12	0	0	0	1	0	18	12				
SIGLEC15	284266	broad.mit.edu	37	18	43405696	43405696	+	Start_Codon_SNP	SNP	G	G	A			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr18:43405696G>A	ENST00000389474.3	+	1	220	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_213602.2	NP_998767.1	Q6ZMC9	SIG15_HUMAN	sialic acid binding Ig-like lectin 15	1					cellular response to lipoprotein particle stimulus (GO:0071402)|innate immune response (GO:0045087)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of bone resorption (GO:0045124)|regulation of osteoclast development (GO:2001204)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)				endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						CTCACAGCATGGAAAAGTCCA	0.647																																						ENST00000389474.3																			0				endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						c.(1-3)atG>atA		sialic acid binding Ig-like lectin 15							129.0	97.0	108.0					18																	43405696		2203	4300	6503	SO:0001582	initiator_codon_variant	284266					integral to membrane		g.chr18:43405696G>A	AK095432	CCDS32819.1	18q21.1	2014-01-28	2007-05-31	2007-05-31	ENSG00000197046	ENSG00000197046		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27596	protein-coding gene	gene with protein product			"""CD33 antigen-like 3"", ""CD33 molecule-like 3"""	CD33L3		17483134	Standard	NM_213602		Approved	HsT1361	uc002lbl.1	Q6ZMC9		ENST00000389474.3:c.3G>A	18.37:g.43405696G>A	ENSP00000374125:p.Met1Ile						p.M1I	NM_213602.2	NP_998767.1	Q6ZMC9	SIG15_HUMAN			1	220	+			1					A8K2Y5|B4DVQ9	Translation_Start_Site	SNP	ENST00000389474.3	37	c.3G>A	CCDS32819.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.714067	0.48622	.	.	ENSG00000197046	ENST00000389474	T	0.29142	1.58	3.8	3.8	0.43715	.	0.207799	0.24363	N	0.039169	T	0.47893	0.1470	.	.	.	0.80722	D	1	P	0.49447	0.924	P	0.57776	0.827	T	0.51616	-0.8683	9	0.87932	D	0	-17.0531	11.3584	0.49630	0.0:0.0:1.0:0.0	.	1	Q6ZMC9	SIG15_HUMAN	I	1	ENSP00000374125:M1I	ENSP00000374125:M1I	M	+	3	0	SIGLEC15	41659694	1.000000	0.71417	0.995000	0.50966	0.083000	0.17756	2.536000	0.45693	2.127000	0.65507	0.462000	0.41574	ATG		0.647	SIGLEC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410768.2	NM_213602	Missense_Mutation	9	35	0	0	0	1	0	9	35				
MYO1E	4643	broad.mit.edu	37	15	59480400	59480400	+	Silent	SNP	G	G	A	rs375000696		TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr15:59480400G>A	ENST00000288235.4	-	18	2220	c.1821C>T	c.(1819-1821)gtC>gtT	p.V607V		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	607	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		CCAAATATTCGACTTGATGCT	0.468																																						ENST00000288235.4																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33						c.(1819-1821)gtC>gtT		myosin IE		G		1,4381	2.1+/-5.4	0,1,2190	138.0	131.0	133.0		1821	-9.6	0.3	15		133	2,8580	2.2+/-6.3	0,2,4289	no	coding-synonymous	MYO1E	NM_004998.2		0,3,6479	AA,AG,GG		0.0233,0.0228,0.0231		607/1109	59480400	3,12961	2191	4291	6482	SO:0001819	synonymous_variant	4643				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity	g.chr15:59480400G>A	U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"""Myosins / Myosin superfamily : Class I"""	7599	protein-coding gene	gene with protein product	"""myosin-IC"""	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.1821C>T	15.37:g.59480400G>A							p.V607V	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN		all cancers(107;0.207)	18	2220	-			607			Myosin head-like.		Q14778	Silent	SNP	ENST00000288235.4	37	c.1821C>T	CCDS32254.1																																																																																				0.468	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416024.1	NM_004998		8	72	0	0	0	1	0	8	72				
IGKV1-8	28942	broad.mit.edu	37	2	89292206	89292206	+	RNA	SNP	G	G	A			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr2:89292206G>A	ENST00000495489.1	-	0	119									immunoglobulin kappa variable 1-8																		TGGGTCATCCGGATGGCACAT	0.463																																						ENST00000495489.1																			0																				162.0	155.0	157.0					2																	89292206		1943	4145	6088			0							g.chr2:89292206G>A	Z00014		2p11.2	2012-02-10			ENSG00000240671	ENSG00000240671		"""Immunoglobulins / IGK locus"""	5743	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV18, L9			OTTHUMG00000151634		2.37:g.89292206G>A														0	119	-									RNA	SNP	ENST00000495489.1	37																																																																																						0.463	IGKV1-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323358.1	NG_000834		53	114	0	0	0	1	0	53	114				
DOK6	220164	broad.mit.edu	37	18	67365790	67365790	+	Missense_Mutation	SNP	A	A	G			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr18:67365790A>G	ENST00000382713.5	+	5	750	c.560A>G	c.(559-561)tAc>tGc	p.Y187C	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	187	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.									central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				CTGAGGAGATACGGTCGGGAC	0.468																																						ENST00000382713.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20						c.(559-561)tAc>tGc		docking protein 6							93.0	78.0	83.0					18																	67365790		2203	4300	6503	SO:0001583	missense	220164						insulin receptor binding	g.chr18:67365790A>G	AK057795	CCDS32841.1	18q22.2	2013-01-10	2005-01-18	2005-01-18		ENSG00000206052		"""Pleckstrin homology (PH) domain containing"""	28301	protein-coding gene	gene with protein product		611402	"""docking protein 5-like"""	DOK5L		15286081	Standard	NM_152721		Approved	MGC20785, HsT3226	uc002lkl.3	Q6PKX4		ENST00000382713.5:c.560A>G	18.37:g.67365790A>G	ENSP00000372160:p.Tyr187Cys					DOK6_ENST00000584435.1_3'UTR	p.Y187C	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN			5	750	+		Colorectal(73;0.083)|Esophageal squamous(42;0.131)	187			IRS-type PTB.		A6NNG3|Q4V9S3|Q8WUZ8|Q96HI2|Q96LU2	Missense_Mutation	SNP	ENST00000382713.5	37	c.560A>G	CCDS32841.1	.	.	.	.	.	.	.	.	.	.	A	13.29	2.194543	0.38806	.	.	ENSG00000206052	ENST00000382713	D	0.89681	-2.55	5.72	5.72	0.89469	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (3);	0.000000	0.85682	D	0.000000	D	0.94899	0.8351	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94213	0.7460	10	0.30078	T	0.28	.	15.1721	0.72881	1.0:0.0:0.0:0.0	.	187	Q6PKX4	DOK6_HUMAN	C	187	ENSP00000372160:Y187C	ENSP00000372160:Y187C	Y	+	2	0	DOK6	65516770	1.000000	0.71417	0.943000	0.38184	0.737000	0.42083	9.201000	0.95017	2.187000	0.69744	0.482000	0.46254	TAC		0.468	DOK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442969.1	NM_152721		7	33	0	0	0	1	0	7	33				
SPDYE3	441272	broad.mit.edu	37	7	99913460	99913460	+	Silent	SNP	A	A	G	rs201349757		TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr7:99913460A>G	ENST00000332397.6	+	7	1438	c.1254A>G	c.(1252-1254)tcA>tcG	p.S418S	SPDYE3_ENST00000437326.2_Silent_p.S41S	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	418								p.S418S(11)		endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						TGAGGGTGTCAGACAAGGTAA	0.522																																						ENST00000332397.6																			11	Substitution - coding silent(11)	p.S418S(11)	endometrium(10)|prostate(1)	endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						c.(1252-1254)tcA>tcG		speedy/RINGO cell cycle regulator family member E3							253.0	273.0	266.0					7																	99913460		2091	3956	6047	SO:0001819	synonymous_variant	441272							g.chr7:99913460A>G	BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300		"""Speedy homologs"""	35462	protein-coding gene	gene with protein product			"""speedy homolog E3 (Xenopus laevis)"""				Standard	NM_001004351		Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.1254A>G	7.37:g.99913460A>G						SPDYE3_ENST00000437326.2_Silent_p.S41S	p.S418S	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN			7	1438	+			418					Q495Y9|Q6PHC4	Silent	SNP	ENST00000332397.6	37	c.1254A>G	CCDS47658.2																																																																																				0.522	SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340224.2	NM_001004351		5	293	0	0	0	1	0	5	293				
PERP	64065	broad.mit.edu	37	6	138428291	138428291	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr6:138428291C>T	ENST00000421351.3	-	1	357	c.187G>A	c.(187-189)Gag>Aag	p.E63K		NM_022121.4	NP_071404.2	Q96FX8	PERP_HUMAN	PERP, TP53 apoptosis effector	63					activation of cysteine-type endopeptidase activity (GO:0097202)|amelogenesis (GO:0097186)|desmosome organization (GO:0002934)|heterotypic cell-cell adhesion (GO:0034113)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of proteolysis (GO:0045862)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(1)|lung(1)|prostate(1)	5	Breast(32;0.0799)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997)		TGACAGCCCTCCTCGTAGGAC	0.726																																						ENST00000421351.3																			0				breast(1)|cervix(1)|endometrium(1)|lung(1)|prostate(1)	5						c.(187-189)Gag>Aag		PERP, TP53 apoptosis effector							28.0	35.0	33.0					6																	138428291		2195	4287	6482	SO:0001583	missense	64065				apoptosis|cell adhesion	desmosome|Golgi apparatus|integral to membrane|nucleus		g.chr6:138428291C>T	AF317550	CCDS5188.1	6q24	2014-04-29			ENSG00000112378	ENSG00000112378			17637	protein-coding gene	gene with protein product	"""keratinocyte associated protein 1"""	609301				11062687	Standard	NM_022121		Approved	PIGPC1, dJ496H19.1, KCP1, THW, KRTCAP1	uc003qht.2	Q96FX8	OTTHUMG00000015668	ENST00000421351.3:c.187G>A	6.37:g.138428291C>T	ENSP00000397157:p.Glu63Lys						p.E63K	NM_022121.4	NP_071404.2	Q96FX8	PERP_HUMAN		GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997)	1	357	-	Breast(32;0.0799)|Colorectal(23;0.24)		63					B2RB73|E1P590|Q8IWS3|Q8N1J6|Q8NC16|Q9H1C5|Q9H230	Missense_Mutation	SNP	ENST00000421351.3	37	c.187G>A	CCDS5188.1	.	.	.	.	.	.	.	.	.	.	c	0.162	-1.080620	0.01888	.	.	ENSG00000112378	ENST00000421351;ENST00000265603	D	0.88509	-2.39	4.34	1.21	0.21127	.	0.774581	0.12968	N	0.424414	T	0.62085	0.2399	N	0.22421	0.69	0.09310	N	1	B	0.12013	0.005	B	0.19391	0.025	T	0.51741	-0.8667	10	0.12103	T	0.63	-0.0974	9.5433	0.39266	0.1361:0.3445:0.5194:0.0	.	63	Q96FX8	PERP_HUMAN	K	63;45	ENSP00000397157:E63K	ENSP00000265603:E45K	E	-	1	0	PERP	138469984	0.012000	0.17670	0.001000	0.08648	0.056000	0.15407	0.667000	0.25112	-0.069000	0.12931	0.486000	0.48141	GAG		0.726	PERP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042423.2	NM_022121		14	46	0	0	0	1	0	14	46				
SQRDL	58472	broad.mit.edu	37	15	45974776	45974776	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr15:45974776C>A	ENST00000260324.7	+	7	1351	c.965C>A	c.(964-966)aCt>aAt	p.T322N	SQRDL_ENST00000568606.1_Missense_Mutation_p.T322N	NM_021199.3	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	322					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial inner membrane (GO:0005743)	sulfide:quinone oxidoreductase activity (GO:0070224)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		GATAAAGAAACTCTGCAACAC	0.512																																						ENST00000260324.7																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11						c.(964-966)aCt>aAt		sulfide quinone reductase-like (yeast)							156.0	134.0	141.0					15																	45974776		2198	4297	6495	SO:0001583	missense	58472						oxidoreductase activity	g.chr15:45974776C>A	AF042284	CCDS10127.1	15q21.1	2010-08-05			ENSG00000137767	ENSG00000137767			20390	protein-coding gene	gene with protein product						10810093, 10224084	Standard	NM_021199		Approved	CGI-44	uc001zvu.4	Q9Y6N5	OTTHUMG00000131476	ENST00000260324.7:c.965C>A	15.37:g.45974776C>A	ENSP00000260324:p.Thr322Asn					SQRDL_ENST00000568606.1_Missense_Mutation_p.T322N	p.T322N	NM_021199.2	NP_067022.1	Q9Y6N5	SQRD_HUMAN		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)	7	1351	+		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)	322					Q9UQM8	Missense_Mutation	SNP	ENST00000260324.7	37	c.965C>A	CCDS10127.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.425961	0.83667	.	.	ENSG00000137767	ENST00000260324	T	0.57107	0.42	5.9	5.9	0.94986	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.043380	0.85682	D	0.000000	T	0.72890	0.3517	M	0.89715	3.055	0.80722	D	1	P	0.36712	0.566	P	0.47470	0.548	T	0.76219	-0.3039	10	0.72032	D	0.01	.	18.8407	0.92183	0.0:1.0:0.0:0.0	.	322	Q9Y6N5	SQRD_HUMAN	N	322	ENSP00000260324:T322N	ENSP00000260324:T322N	T	+	2	0	SQRDL	43762068	0.996000	0.38824	0.999000	0.59377	0.924000	0.55760	3.278000	0.51662	2.802000	0.96397	0.650000	0.86243	ACT		0.512	SQRDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254319.2			13	32	1	0	0.00010058	1	0.000103033	13	32				
C10orf54	64115	broad.mit.edu	37	10	73521610	73521610	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr10:73521610G>A	ENST00000394957.3	-	2	314	c.256C>T	c.(256-258)Cgc>Tgc	p.R86C	CDH23_ENST00000224721.6_Intron|C10orf54_ENST00000481568.2_5'UTR	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	86	Ig-like.				BMP signaling pathway (GO:0030509)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of T cell cytokine production (GO:0002725)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of stem cell differentiation (GO:2000738)|stem cell differentiation (GO:0048863)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						ATGGGCCGGCGCTCTGAGCAG	0.652																																						ENST00000394957.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(256-258)Cgc>Tgc		chromosome 10 open reading frame 54							106.0	99.0	101.0					10																	73521610		2203	4300	6503	SO:0001583	missense	64115					integral to membrane	receptor activity	g.chr10:73521610G>A	AF193048	CCDS31218.1	10q22.1	2013-11-28			ENSG00000107738	ENSG00000107738		"""Immunoglobulin superfamily / V-set domain containing"""	30085	protein-coding gene	gene with protein product	"""stress induced secreted protein 1"""	615608				12975309	Standard	NM_022153		Approved	SISP1, GI24, B7-H5, B7H5	uc001jsd.3	Q9H7M9	OTTHUMG00000018426	ENST00000394957.3:c.256C>T	10.37:g.73521610G>A	ENSP00000378409:p.Arg86Cys					CDH23_ENST00000224721.6_Intron|C10orf54_ENST00000481568.1_5'UTR	p.R86C	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN			2	314	-			86			Ig-like.		A1L0X9|A4ZYV1|A8MVH5|Q6UXF3|Q8WUG3|Q8WYZ8	Missense_Mutation	SNP	ENST00000394957.3	37	c.256C>T	CCDS31218.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.663294	0.88251	.	.	ENSG00000107738	ENST00000394957;ENST00000263569	T	0.48522	0.81	5.75	4.78	0.61160	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.586500	0.19137	N	0.121783	T	0.60327	0.2260	L	0.50333	1.59	0.45066	D	0.998086	D;D	0.89917	1.0;1.0	D;D	0.69824	0.966;0.91	T	0.60535	-0.7244	10	0.72032	D	0.01	-12.9833	11.3932	0.49825	0.0:0.0:0.607:0.393	.	82;86	Q2TA85;Q9H7M9	.;GI24_HUMAN	C	86;82	ENSP00000378409:R86C	ENSP00000263569:R82C	R	-	1	0	C10orf54	73191616	0.967000	0.33354	0.998000	0.56505	0.982000	0.71751	2.635000	0.46537	2.720000	0.93068	0.655000	0.94253	CGC		0.652	C10orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048548.1	NM_022153		4	46	0	0	0	1	0	4	46				
SYNE1	23345	broad.mit.edu	37	6	152749370	152749370	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr6:152749370G>A	ENST00000367255.5	-	37	5547	c.4946C>T	c.(4945-4947)gCg>gTg	p.A1649V	SYNE1_ENST00000341594.5_Missense_Mutation_p.A1719V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A1649V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A1656V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A1656V|SYNE1_ENST00000367253.4_Missense_Mutation_p.A1649V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1649					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATTCTCCAGCGCCGTCTGTCT	0.517										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(4945-4947)gCg>gTg		spectrin repeat containing, nuclear envelope 1							197.0	205.0	202.0					6																	152749370		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152749370G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.4946C>T	6.37:g.152749370G>A	ENSP00000356224:p.Ala1649Val	HNSCC(10;0.0054)				SYNE1_ENST00000423061.1_Missense_Mutation_p.A1656V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A1656V|SYNE1_ENST00000367253.4_Missense_Mutation_p.A1649V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A1649V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A1719V	p.A1649V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	37	5547	-		Ovarian(120;0.0955)	1649					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.4946C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	12.47	1.948723	0.34377	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253	T;T;T;T;T;T	0.52057	1.33;1.33;1.33;1.33;0.68;0.68	5.87	-11.7	0.00046	.	1.800440	0.02732	N	0.115218	T	0.08626	0.0214	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.12013	0.001;0.005;0.004;0.005;0.004	B;B;B;B;B	0.08055	0.001;0.001;0.002;0.001;0.003	T	0.11690	-1.0577	10	0.26408	T	0.33	.	14.3702	0.66833	0.7246:0.0:0.142:0.1334	.	1632;1649;1649;1649;1656	B3W695;Q8NF91;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	V	1649;1656;1649;1656;1719;1649	ENSP00000356224:A1649V;ENSP00000396024:A1656V;ENSP00000265368:A1649V;ENSP00000390975:A1656V;ENSP00000341887:A1719V;ENSP00000356222:A1649V	ENSP00000265368:A1649V	A	-	2	0	SYNE1	152791063	0.000000	0.05858	0.000000	0.03702	0.204000	0.24138	-2.136000	0.01305	-2.770000	0.00365	-0.732000	0.03574	GCG		0.517	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		61	152	0	0	0	1	0	61	152				
BAGE2	85319	broad.mit.edu	37	21	11098732	11098732	+	RNA	SNP	C	C	T	rs73891536	byFrequency	TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr21:11098732C>T	ENST00000470054.1	-	0	193							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ctgctccggccgccatcttac	0.632																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11098732C>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11098732C>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	193	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.632	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		22	66	0	0	0	1	0	22	66				
MARCH7	64844	broad.mit.edu	37	2	160602322	160602322	+	Missense_Mutation	SNP	A	A	G	rs375119177		TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr2:160602322A>G	ENST00000259050.4	+	4	510	c.388A>G	c.(388-390)Atg>Gtg	p.M130V	MARCH7_ENST00000409591.1_Missense_Mutation_p.M92V|MARCH7_ENST00000473749.1_Intron|MARCH7_ENST00000539065.1_Intron|MARCH7_ENST00000409175.1_Missense_Mutation_p.M130V	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	130	Ser-rich.				protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						ATCTTCATCAATGGTACTTGG	0.358																																						ENST00000259050.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						c.(388-390)Atg>Gtg		membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase		A	VAL/MET	0,4406		0,0,2203	84.0	84.0	84.0		388	-10.1	0.8	2		84	1,8597	1.2+/-3.3	0,1,4298	no	missense	MARCH7	NM_022826.2	21	0,1,6501	GG,GA,AA		0.0116,0.0,0.0077	benign	130/705	160602322	1,13003	2203	4299	6502	SO:0001583	missense	64844						ligase activity|zinc ion binding	g.chr2:160602322A>G	AK022973	CCDS2210.1, CCDS63038.1, CCDS63039.1	2q24.2	2013-01-09	2012-02-23	2005-01-27	ENSG00000136536	ENSG00000136536		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	17393	protein-coding gene	gene with protein product		613334	"""axotrophin"", ""membrane-associated ring finger (C3HC4) 7"""	AXOT		14722266	Standard	XM_005246773		Approved	MARCH-VII, RNF177	uc002uax.3	Q9H992	OTTHUMG00000132029	ENST00000259050.4:c.388A>G	2.37:g.160602322A>G	ENSP00000259050:p.Met130Val					MARCH7_ENST00000539065.1_Intron|MARCH7_ENST00000473749.1_Intron|MARCH7_ENST00000409591.1_Missense_Mutation_p.M92V|MARCH7_ENST00000409175.1_Missense_Mutation_p.M130V	p.M130V	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN			4	510	+			130			Ser-rich.		A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9	Missense_Mutation	SNP	ENST00000259050.4	37	c.388A>G	CCDS2210.1	.	.	.	.	.	.	.	.	.	.	A	0.011	-1.705670	0.00719	0.0	1.16E-4	ENSG00000136536	ENST00000409175;ENST00000259050;ENST00000409591	T;T;T	0.10477	2.88;2.88;2.87	5.47	-10.1	0.00402	.	0.828206	0.11739	N	0.534173	T	0.02610	0.0079	N	0.05510	-0.035	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39623	-0.9605	10	0.02654	T	1	-16.8347	5.5992	0.17345	0.3365:0.0964:0.4718:0.0953	.	92;130	B7Z7P5;Q9H992	.;MARH7_HUMAN	V	130;130;92	ENSP00000386830:M130V;ENSP00000259050:M130V;ENSP00000387238:M92V	ENSP00000259050:M130V	M	+	1	0	MARCH7	160310568	0.002000	0.14202	0.795000	0.32087	0.063000	0.16089	-1.429000	0.02437	-1.848000	0.01172	-1.154000	0.01816	ATG		0.358	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255040.3	NM_022826		35	66	0	0	0	1	0	35	66				
CCHCR1	54535	broad.mit.edu	37	6	31117847	31117847	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr6:31117847C>A	ENST00000376266.5	-	8	1213	c.1091G>T	c.(1090-1092)gGa>gTa	p.G364V	CCHCR1_ENST00000396263.2_Missense_Mutation_p.G364V|CCHCR1_ENST00000451521.2_Missense_Mutation_p.G417V|CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000396268.3_Missense_Mutation_p.G453V	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	364					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						AGTGACCTGTCCCTTCAGCTG	0.547																																						ENST00000396268.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						c.(1357-1359)gGa>gTa		coiled-coil alpha-helical rod protein 1							136.0	118.0	124.0					6																	31117847		2203	4300	6503	SO:0001583	missense	54535				cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding	g.chr6:31117847C>A	AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"""chromosome 6 open reading frame 18"""	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.1091G>T	6.37:g.31117847C>A	ENSP00000365442:p.Gly364Val					CCHCR1_ENST00000376266.5_Missense_Mutation_p.G364V|CCHCR1_ENST00000396263.2_Missense_Mutation_p.G364V|CCHCR1_ENST00000451521.2_Missense_Mutation_p.G417V|CCHCR1_ENST00000480060.1_Intron	p.G453V	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN			8	1546	-			364					A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Missense_Mutation	SNP	ENST00000376266.5	37	c.1358G>T	CCDS4695.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.481831	0.26598	.	.	ENSG00000204536	ENST00000396268;ENST00000376266;ENST00000396263;ENST00000440185;ENST00000451521	T;T;T;T	0.03330	3.97;3.97;3.97;3.97	5.17	-0.147	0.13428	.	1.133580	0.06401	N	0.718828	T	0.01353	0.0044	L	0.54323	1.7	0.28008	N	0.935014	P;B;B;P;P	0.40000	0.698;0.202;0.297;0.473;0.465	B;B;B;B;B	0.39419	0.299;0.08;0.13;0.176;0.113	T	0.43956	-0.9359	10	0.34782	T	0.22	-0.0521	1.6787	0.02827	0.1577:0.3554:0.3074:0.1794	.	364;364;364;417;453	B4DIA2;A8K081;Q8TD31;E9PE84;Q8TD31-2	.;.;CCHCR_HUMAN;.;.	V	453;364;364;364;417	ENSP00000379566:G453V;ENSP00000365442:G364V;ENSP00000379561:G364V;ENSP00000401039:G417V	ENSP00000365442:G364V	G	-	2	0	CCHCR1	31225826	0.219000	0.23619	0.879000	0.34478	0.870000	0.49936	0.525000	0.22956	-0.093000	0.12396	-0.244000	0.11960	GGA		0.547	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5	NM_019052		19	48	1	0	2.37509e-13	1	2.6251e-13	19	48				
GORASP1	64689	broad.mit.edu	37	3	39141919	39141919	+	Silent	SNP	A	A	G			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr3:39141919A>G	ENST00000319283.3	-	6	1463	c.642T>C	c.(640-642)ccT>ccC	p.P214P	GORASP1_ENST00000479927.1_Silent_p.P119P|GORASP1_ENST00000422110.2_Silent_p.P59P|GORASP1_ENST00000476334.1_5'Flank	NM_031899.2	NP_114105.1	Q9BQQ3	GORS1_HUMAN	golgi reassembly stacking protein 1, 65kDa	214	Pro-rich.				Golgi organization (GO:0007030)|mitotic cell cycle (GO:0000278)|negative regulation of dendrite morphogenesis (GO:0050774)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(1)|ovary(3)|urinary_tract(1)	14				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		GTGGGGTGCCAGGTGGCTTCT	0.587																																						ENST00000319283.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(1)|ovary(3)|urinary_tract(1)	14						c.(640-642)ccT>ccC		golgi reassembly stacking protein 1, 65kDa							78.0	86.0	83.0					3																	39141919		2203	4300	6503	SO:0001819	synonymous_variant	64689				mitotic prophase|protein transport	cytosol|Golgi apparatus|membrane		g.chr3:39141919A>G	AJ409349	CCDS2681.1, CCDS63596.1, CCDS63597.1	3p22-p21.33	2008-04-23	2002-08-29	2002-05-24	ENSG00000114745	ENSG00000114745			16769	protein-coding gene	gene with protein product		606867	"""golgi phosphoprotein 5"""	GOLPH5			Standard	NM_001278789		Approved	GRASP65, P65, FLJ23443	uc003ciw.1	Q9BQQ3	OTTHUMG00000131292	ENST00000319283.3:c.642T>C	3.37:g.39141919A>G						GORASP1_ENST00000422110.2_Silent_p.P59P|GORASP1_ENST00000479927.1_Silent_p.P119P	p.P214P	NM_031899.2	NP_114105.1	Q9BQQ3	GORS1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)	6	1463	-			214			Pro-rich.		B3KWC8|Q3SYG7|Q8N272|Q96H42	Silent	SNP	ENST00000319283.3	37	c.642T>C	CCDS2681.1																																																																																				0.587	GORASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254060.1			6	18	0	0	0	1	0	6	18				
BTBD3	22903	broad.mit.edu	37	20	11904136	11904136	+	Missense_Mutation	SNP	A	A	G			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr20:11904136A>G	ENST00000405977.1	+	5	2016	c.1391A>G	c.(1390-1392)gAc>gGc	p.D464G	BTBD3_ENST00000254977.3_Missense_Mutation_p.D403G|BTBD3_ENST00000399006.2_Missense_Mutation_p.D403G|BTBD3_ENST00000378226.2_Missense_Mutation_p.D464G	NM_001282550.1|NM_001282552.1|NM_001282554.1	NP_001269479.1|NP_001269481.1|NP_001269483.1	Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	464					cerebral cortex development (GO:0021987)|dendrite morphogenesis (GO:0048813)	cytosol (GO:0005829)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						ATCGAGCCAGACACCTTCTAC	0.502																																						ENST00000405977.1																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						c.(1390-1392)gAc>gGc		BTB (POZ) domain containing 3							130.0	116.0	121.0					20																	11904136		2203	4300	6503	SO:0001583	missense	22903							g.chr20:11904136A>G	AB023169	CCDS13113.1, CCDS13114.1	20p12.2	2013-01-08			ENSG00000132640	ENSG00000132640		"""BTB/POZ domain containing"""	15854	protein-coding gene	gene with protein product		615566					Standard	NM_001282551		Approved	KIAA0952, dJ742J24.1	uc002wnz.3	Q9Y2F9	OTTHUMG00000031889	ENST00000405977.1:c.1391A>G	20.37:g.11904136A>G	ENSP00000384545:p.Asp464Gly					BTBD3_ENST00000254977.3_Missense_Mutation_p.D403G|BTBD3_ENST00000399006.2_Missense_Mutation_p.D403G|BTBD3_ENST00000378226.2_Missense_Mutation_p.D464G	p.D464G			Q9Y2F9	BTBD3_HUMAN			5	2016	+			464					D3DW19|Q5JY73	Missense_Mutation	SNP	ENST00000405977.1	37	c.1391A>G	CCDS13113.1	.	.	.	.	.	.	.	.	.	.	A	15.24	2.775876	0.49786	.	.	ENSG00000132640	ENST00000254977;ENST00000399006;ENST00000405977;ENST00000378226	T;T;T;T	0.77877	-1.06;-1.06;-1.13;-1.13	6.02	6.02	0.97574	PHR (1);	0.000000	0.85682	D	0.000000	T	0.69860	0.3158	L	0.27944	0.81	0.80722	D	1	B	0.31730	0.337	B	0.37943	0.261	T	0.65998	-0.6032	10	0.18276	T	0.48	.	15.7258	0.77756	1.0:0.0:0.0:0.0	.	464	Q9Y2F9	BTBD3_HUMAN	G	403;403;464;464	ENSP00000254977:D403G;ENSP00000381971:D403G;ENSP00000384545:D464G;ENSP00000367471:D464G	ENSP00000254977:D403G	D	+	2	0	BTBD3	11852136	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	2.311000	0.77944	0.533000	0.62120	GAC		0.502	BTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078021.3			14	26	0	0	0	1	0	14	26				
UBN1	29855	broad.mit.edu	37	16	4910855	4910855	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr16:4910855C>T	ENST00000396658.4	+	6	1565	c.862C>T	c.(862-864)Ccc>Tcc	p.P288S	UBN1_ENST00000590769.1_Missense_Mutation_p.P288S|UBN1_ENST00000545171.1_Missense_Mutation_p.P288S|UBN1_ENST00000585857.1_3'UTR|UBN1_ENST00000262376.6_Missense_Mutation_p.P288S	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	288					chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						TGCCTCTGACCCCTTGCTCTC	0.572																																						ENST00000396658.4																			0				NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(862-864)Ccc>Tcc		ubinuclein 1							161.0	131.0	141.0					16																	4910855		2197	4300	6497	SO:0001583	missense	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4910855C>T	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.862C>T	16.37:g.4910855C>T	ENSP00000379894:p.Pro288Ser					UBN1_ENST00000262376.6_Missense_Mutation_p.P288S|UBN1_ENST00000545171.1_Missense_Mutation_p.P288S|UBN1_ENST00000585857.1_3'UTR|UBN1_ENST00000590769.1_Missense_Mutation_p.P288S	p.P288S	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN			6	1565	+			288					B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	ENST00000396658.4	37	c.862C>T	CCDS10525.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.386895	0.82902	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.54279	1.2;0.58;1.2	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.72811	0.3507	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.70121	-0.4959	10	0.46703	T	0.11	-24.3936	20.3473	0.98799	0.0:1.0:0.0:0.0	.	288;288	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	S	288	ENSP00000262376:P288S;ENSP00000442379:P288S;ENSP00000379894:P288S	ENSP00000262376:P288S	P	+	1	0	UBN1	4850856	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	5.693000	0.68264	2.884000	0.98904	0.655000	0.94253	CCC		0.572	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		22	62	0	0	0	1	0	22	62				
OR4C12	283093	broad.mit.edu	37	11	50003458	50003458	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr11:50003458C>A	ENST00000335238.4	-	1	613	c.580G>T	c.(580-582)Ggt>Tgt	p.G194C		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G194C(1)		NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						ACAAAGAGACCAAGGGTATGA	0.408																																						ENST00000335238.4																			1	Substitution - Missense(1)	p.G194C(1)	lung(1)	NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(580-582)Ggt>Tgt		olfactory receptor, family 4, subfamily C, member 12							101.0	100.0	100.0					11																	50003458		2201	4296	6497	SO:0001583	missense	283093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:50003458C>A	BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"""GPCR / Class A : Olfactory receptors"""	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.580G>T	11.37:g.50003458C>A	ENSP00000334418:p.Gly194Cys						p.G194C	NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN			1	613	-			194					B2RNF0|Q6IF49	Missense_Mutation	SNP	ENST00000335238.4	37	c.580G>T	CCDS31496.1	.	.	.	.	.	.	.	.	.	.	.	16.26	3.072980	0.55646	.	.	ENSG00000221954	ENST00000335238	T	0.00130	8.69	2.98	2.98	0.34508	GPCR, rhodopsin-like superfamily (1);	0.160723	0.28577	U	0.014860	T	0.00496	0.0016	M	0.87456	2.885	0.43467	D	0.995677	D	0.89917	1.0	D	0.91635	0.999	T	0.73949	-0.3821	10	0.87932	D	0	.	11.934	0.52864	0.0:1.0:0.0:0.0	.	194	Q96R67	OR4CC_HUMAN	C	194	ENSP00000334418:G194C	ENSP00000334418:G194C	G	-	1	0	OR4C12	49960034	0.000000	0.05858	0.998000	0.56505	0.633000	0.38033	0.993000	0.29680	1.698000	0.51180	0.398000	0.26397	GGT		0.408	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391104.1	NM_001005270		14	43	1	0	5.01169e-05	1	5.39721e-05	14	43				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	p.S168S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	32	0	0	0	1	0	4	32				
LOC730100	730100	broad.mit.edu	37	2	51738342	51738342	+	lincRNA	DEL	T	T	-			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr2:51738342delT	ENST00000440698.1	+	0	694																											ATACTGCTGGTTTTGAGAACA	0.483																																						ENST00000440698.1																			0																																																			0							g.chr2:51738342delT																													2.37:g.51738342delT														0	694	+									RNA	DEL	ENST00000440698.1	37																																																																																						0.483	AC007682.1-001	KNOWN	mRNA_start_NF|basic	lincRNA	lincRNA	OTTHUMT00000291399.3			2	4						2	4	---	---	---	---
LOC730100	730100	broad.mit.edu	37	2	51832659	51832659	+	lincRNA	DEL	C	C	-			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr2:51832659delC	ENST00000440698.1	+	0	753																											ctgctcttctccccagtggct	0.607																																						ENST00000440698.1																			0																																																			0							g.chr2:51832659delC																													2.37:g.51832659delC														0	753	+									RNA	DEL	ENST00000440698.1	37																																																																																						0.607	AC007682.1-001	KNOWN	mRNA_start_NF|basic	lincRNA	lincRNA	OTTHUMT00000291399.3			2	4						2	4	---	---	---	---
ZNF142	7701	broad.mit.edu	37	2	219508077	219508077	+	Silent	SNP	G	G	A	rs188997501	byFrequency	TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr2:219508077G>A	ENST00000449707.1	-	8	3583	c.3162C>T	c.(3160-3162)ggC>ggT	p.G1054G	ZNF142_ENST00000411696.2_Silent_p.G1054G	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1054					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(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TTCCTCCCCCGCCACGTCCCC	0.602													G|||	2	0.000399361	0.0	0.0	5008	,	,		16301	0.002		0.0	False		,,,				2504	0.0				Colon(170;867 1942 8995 15834 18053)	ENST00000411696.2																			0				breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(3160-3162)ggC>ggT		zinc finger protein 142							40.0	46.0	44.0					2																	219508077		1928	4113	6041	SO:0001819	synonymous_variant	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219508077G>A	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.3162C>T	2.37:g.219508077G>A						ZNF142_ENST00000449707.1_Silent_p.G1054G	p.G1054G			P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	7	3941	-		Renal(207;0.0474)	1054					Q92510	Silent	SNP	ENST00000449707.1	37	c.3162C>T	CCDS42817.1																																																																																				0.602	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		17	24	0	0	0	1	0	17	24				
DRD3	1814	broad.mit.edu	37	3	113866343	113866344	+	Frame_Shift_Ins	INS	-	-	C	rs200010990		TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr3:113866343_113866344insC	ENST00000460779.1	-	5	733_734	c.444_445insG	c.(442-447)cggcgcfs	p.R149fs	DRD3_ENST00000295881.7_Frame_Shift_Ins_p.R149fs|DRD3_ENST00000383673.2_Frame_Shift_Ins_p.R149fs|DRD3_ENST00000467632.1_Frame_Shift_Ins_p.R149fs	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	149					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)	p.R149S(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	AGGGCCACGCGCCGACAGGAGC	0.559																																						ENST00000383673.2																			1	Substitution - Missense(1)	p.R149S(1)	lung(1)	central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36						c.(442-447)cggcgtfs		dopamine receptor D3	Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)																																			SO:0001589	frameshift_variant	1814				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	g.chr3:113866343_113866344insC		CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"""GPCR / Class A : Dopamine receptors"""	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.445dupG	3.37:g.113866345_113866345dupC	ENSP00000419402:p.Arg149fs					DRD3_ENST00000295881.7_Frame_Shift_Ins_p.R149fs|DRD3_ENST00000467632.1_Frame_Shift_Ins_p.R149fs|DRD3_ENST00000460779.1_Frame_Shift_Ins_p.R149fs	p.R149fs	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN			4	874_875	-			149					A1A4V5|Q4VBM8	Frame_Shift_Ins	INS	ENST00000460779.1	37	c.444_445insG	CCDS2978.1																																																																																				0.559	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1	NM_000796.3		23	41						23	41	---	---	---	---
KBTBD12	166348	broad.mit.edu	37	3	127648992	127648992	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr3:127648992delA	ENST00000405109.1	+	4	1825	c.1358delA	c.(1357-1359)gaafs	p.E454fs	KBTBD12_ENST00000405256.1_Frame_Shift_Del_p.E454fs|KBTBD12_ENST00000343941.4_Frame_Shift_Del_p.E29fs|KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000407609.3_Frame_Shift_Del_p.E61fs			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	454										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						CTTCCTGATGAAGAACCTGAT	0.393																																						ENST00000405109.1																			0				endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						c.(1357-1359)gafs		kelch repeat and BTB (POZ) domain containing 12							75.0	63.0	67.0					3																	127648992		2203	4298	6501	SO:0001589	frameshift_variant	166348							g.chr3:127648992delA		CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"""BTB/POZ domain containing"""	25731	protein-coding gene	gene with protein product			"""kelch domain containing 6"""	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.1358delA	3.37:g.127648992delA	ENSP00000385957:p.Glu454fs					KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000343941.4_Frame_Shift_Del_p.E29fs|KBTBD12_ENST00000405256.1_Frame_Shift_Del_p.E454fs|KBTBD12_ENST00000407609.3_Frame_Shift_Del_p.E61fs	p.E454fs			Q3ZCT8	KBTBC_HUMAN			4	1825	+			454					B5MCC6|Q6ZRK1	Frame_Shift_Del	DEL	ENST00000405109.1	37	c.1358delA	CCDS33848.2																																																																																				0.393	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318682.1	NM_207335		2	4						2	4	---	---	---	---
LMTK2	22853	broad.mit.edu	37	7	97821361	97821362	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr7:97821361_97821362delTG	ENST00000297293.5	+	11	1877_1878	c.1584_1585delTG	c.(1582-1587)gatgtcfs	p.V529fs		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	529					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GCGGCCAGGATGTCCCCCTGAG	0.485																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(1582-1587)gatcfs		lemur tyrosine kinase 2																																				SO:0001589	frameshift_variant	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97821361_97821362delTG	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.1584_1585delTG	7.37:g.97821361_97821362delTG	ENSP00000297293:p.Val529fs						p.DV528fs	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			11	1877_1878	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		528					A4D272|Q75MG7|Q9UPS3	Frame_Shift_Del	DEL	ENST00000297293.5	37	c.1584_1585delTG	CCDS5654.1																																																																																				0.485	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		26	34						26	34	---	---	---	---
MMP20	9313	broad.mit.edu	37	11	102487662	102487663	+	Frame_Shift_Del	DEL	CC	CC	-	rs200482846		TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr11:102487662_102487663delCC	ENST00000260228.2	-	2	266_267	c.254_255delGG	c.(253-255)gggfs	p.G85fs	RP11-817J15.2_ENST00000542119.1_RNA	NM_004771.3	NP_004762.2	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 20	75					hard palate development (GO:0060022)|inflammatory response (GO:0006954)|proteolysis (GO:0006508)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	Marimastat(DB00786)	GGTCTAACTTCCCGGTGACTTG	0.475																																						ENST00000260228.2																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(253-255)gfs		matrix metallopeptidase 20																																				SO:0001589	frameshift_variant	9313				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding	g.chr11:102487662_102487663delCC	Y12779	CCDS8318.1	11q22.3	2008-05-22	2008-05-22			ENSG00000137674			7167	protein-coding gene	gene with protein product	"""enamelysin"""	604629	"""matrix metalloproteinase 20 (enamelysin)"""			9398237	Standard	NM_004771		Approved		uc001phc.3	O60882		ENST00000260228.2:c.254_255delGG	11.37:g.102487662_102487663delCC	ENSP00000260228:p.Gly85fs					RP11-817J15.2_ENST00000542119.1_RNA	p.G85fs	NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	2	266_267	-	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	85					D3DUA8|Q9H3Q0	Frame_Shift_Del	DEL	ENST00000260228.2	37	c.254_255delGG	CCDS8318.1																																																																																				0.475	MMP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398012.1			20	52						20	52	---	---	---	---
RRN3P1	730092	broad.mit.edu	37	16	21817398	21817399	+	RNA	INS	-	-	A	rs371932459|rs144931984|rs149686515		TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr16:21817398_21817399insA	ENST00000546471.1	-	0	1607							Q2M238	RN3P1_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1																		TAAATGaaaataaaaaaataaa	0.302																																						ENST00000546471.1																			0																																																			0							g.chr16:21817398_21817399insA			16p12.2	2012-10-16			ENSG00000248124	ENSG00000248124			30548	pseudogene	pseudogene						12477932	Standard	NR_003370		Approved		uc010vbl.1	Q2M238	OTTHUMG00000170417		16.37:g.21817405_21817405dupA														0	1607	-								A8K6T4|B3KWX9|O75704	RNA	INS	ENST00000546471.1	37																																																																																						0.302	RRN3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409035.1	NR_003370		5	9						5	9	---	---	---	---
