#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
OR7E47P	26628	broad.mit.edu	37	12	52501366	52501366	+	RNA	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr12:52501366C>T	ENST00000546390.1	+	0	765									olfactory receptor, family 7, subfamily E, member 47 pseudogene																		TGACTGTGGACATCCAGTCTC	0.547																																						ENST00000546390.1																			0																																																			0							g.chr12:52501366C>T	X87825		12q13.13	2013-01-23			ENSG00000257542	ENSG00000257542		"""GPCR / Class A : Olfactory receptors"""	8421	pseudogene	pseudogene						8647456	Standard	NR_120439		Approved	OR7E141			OTTHUMG00000169615		12.37:g.52501366C>T														0	765	+									RNA	SNP	ENST00000546390.1	37																																																																																						0.547	OR7E47P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000405071.1	NG_004128		8	11	0	0	0	1	0	8	11				
RBBP7	5931	broad.mit.edu	37	X	16870879	16870879	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chrX:16870879G>A	ENST00000380087.2	-	7	1238	c.878C>T	c.(877-879)gCg>gTg	p.A293V	RBBP7_ENST00000380084.4_Missense_Mutation_p.A337V|RBBP7_ENST00000404022.1_Missense_Mutation_p.A284V			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	293					cell proliferation (GO:0008283)|cellular heat acclimation (GO:0070370)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	RNA binding (GO:0003723)			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					AACCTTATCCGCAGAGCCGGT	0.428																																						ENST00000380087.2																			0				biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25						c.(877-879)gCg>gTg		retinoblastoma binding protein 7							102.0	103.0	103.0					X																	16870879		2203	4300	6503	SO:0001583	missense	5931				cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding	g.chrX:16870879G>A	U35143	CCDS14179.1, CCDS56598.1	Xp22.22	2013-01-10	2001-11-28		ENSG00000102054	ENSG00000102054		"""WD repeat domain containing"""	9890	protein-coding gene	gene with protein product	"""G1/S transition control protein-binding protein RbAp46"", ""retinoblastoma-binding protein 7"", ""retinoblastoma-binding protein RbAp46"", ""histone acetyltransferase type B subunit 2"", ""retinoblastoma-binding protein p46"""	300825	"""retinoblastoma-binding protein 7"""			7503932	Standard	NM_002893		Approved	RbAp46	uc004cxs.2	Q16576	OTTHUMG00000021198	ENST00000380087.2:c.878C>T	X.37:g.16870879G>A	ENSP00000369427:p.Ala293Val					RBBP7_ENST00000404022.1_Missense_Mutation_p.A284V|RBBP7_ENST00000380084.4_Missense_Mutation_p.A337V	p.A293V			Q16576	RBBP7_HUMAN			7	1238	-	Hepatocellular(33;0.0997)		293					Q5JP00	Missense_Mutation	SNP	ENST00000380087.2	37	c.878C>T	CCDS14179.1	.	.	.	.	.	.	.	.	.	.	G	33	5.290736	0.95546	.	.	ENSG00000102054	ENST00000380087;ENST00000380084;ENST00000404022;ENST00000444437;ENST00000416035	T;T;T;T;T	0.61859	0.07;0.07;0.07;0.07;0.07	5.39	5.39	0.77823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.046204	0.85682	D	0.000000	T	0.54598	0.1868	L	0.41961	1.31	0.80722	D	1	P;D;P	0.54047	0.825;0.964;0.945	B;B;B	0.43123	0.109;0.409;0.344	T	0.62025	-0.6941	10	0.87932	D	0	-8.8073	17.3261	0.87248	0.0:0.0:1.0:0.0	.	284;293;337	E9PC52;Q16576;Q5JP00	.;RBBP7_HUMAN;.	V	293;337;284;97;213	ENSP00000369427:A293V;ENSP00000369424:A337V;ENSP00000386068:A284V;ENSP00000402796:A97V;ENSP00000392714:A213V	ENSP00000369424:A337V	A	-	2	0	RBBP7	16780800	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.809000	0.99208	2.392000	0.81423	0.600000	0.82982	GCG		0.428	RBBP7-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055920.2	NM_002893		145	93	0	0	0	1	0	145	93				
FAM71A	149647	broad.mit.edu	37	1	212798594	212798594	+	Silent	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr1:212798594G>A	ENST00000294829.3	+	1	806	c.375G>A	c.(373-375)agG>agA	p.R125R	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	125						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		TGCCCCTGAGGTTTGTACGGA	0.527																																						ENST00000294829.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(373-375)agG>agA		family with sequence similarity 71, member A							93.0	97.0	96.0					1																	212798594		2203	4300	6503	SO:0001819	synonymous_variant	149647							g.chr1:212798594G>A		CCDS1507.1	1q32.3	2008-02-05			ENSG00000162771	ENSG00000162771			26541	protein-coding gene	gene with protein product						12477932	Standard	NM_153606		Approved	FLJ32796	uc010pth.1	Q8IYT1	OTTHUMG00000041084	ENST00000294829.3:c.375G>A	1.37:g.212798594G>A						RP11-338C15.5_ENST00000427949.1_RNA	p.R125R	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)	1	806	+			125					Q5VTZ1	Silent	SNP	ENST00000294829.3	37	c.375G>A	CCDS1507.1																																																																																				0.527	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098529.1	NM_153606		19	105	0	0	0	1	0	19	105				
HLF	3131	broad.mit.edu	37	17	53392710	53392710	+	Missense_Mutation	SNP	A	A	C	rs371976247		TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr17:53392710A>C	ENST00000226067.5	+	3	1047	c.574A>C	c.(574-576)Atg>Ctg	p.M192L	HLF_ENST00000573945.1_Missense_Mutation_p.M107L|HLF_ENST00000575345.1_Missense_Mutation_p.M107L|HLF_ENST00000430986.2_Missense_Mutation_p.M107L	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN	hepatic leukemia factor	192	Pro-rich (proline/acidic region (PAR)).				multicellular organismal development (GO:0007275)|rhythmic process (GO:0048511)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|ovary(2)	3						TGGCCAGGAAATGTTTGACCC	0.517			T	TCF3	ALL																																	ENST00000226067.5				Dom	yes		17	17q22	3131	T	hepatic leukemia factor			L	TCF3		ALL		0				large_intestine(1)|ovary(2)	3						c.(574-576)Atg>Ctg		hepatic leukemia factor							106.0	97.0	100.0					17																	53392710		2203	4300	6503	SO:0001583	missense	3131				multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:53392710A>C		CCDS11585.1	17q22	2011-05-19			ENSG00000108924	ENSG00000108924			4977	protein-coding gene	gene with protein product		142385				1386162	Standard	XM_005257269		Approved	MGC33822	uc002iug.1	Q16534		ENST00000226067.5:c.574A>C	17.37:g.53392710A>C	ENSP00000226067:p.Met192Leu					HLF_ENST00000573945.1_Missense_Mutation_p.M107L|HLF_ENST00000575345.1_Missense_Mutation_p.M107L|HLF_ENST00000430986.2_Missense_Mutation_p.M107L	p.M192L	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN			3	1047	+			192			Pro-rich (proline/acidic region (PAR)).		A8K1X8|Q6FHS9	Missense_Mutation	SNP	ENST00000226067.5	37	c.574A>C	CCDS11585.1	.	.	.	.	.	.	.	.	.	.	A	10.57	1.386677	0.25031	.	.	ENSG00000108924	ENST00000226067;ENST00000430986	.	.	.	5.6	4.53	0.55603	.	0.106103	0.64402	D	0.000003	T	0.31136	0.0787	N	0.16066	0.365	0.54753	D	0.999988	B;B	0.22346	0.001;0.068	B;B	0.13407	0.002;0.009	T	0.12451	-1.0547	9	0.16420	T	0.52	.	10.252	0.43375	0.9233:0.0:0.0767:0.0	.	140;192	B4DIQ5;Q16534	.;HLF_HUMAN	L	192;107	.	ENSP00000226067:M192L	M	+	1	0	HLF	50747709	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.040000	0.64191	2.137000	0.66172	0.533000	0.62120	ATG		0.517	HLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439185.1	NM_002126		49	23	0	0	0	1	0	49	23				
DLG3	1741	broad.mit.edu	37	X	69699084	69699084	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chrX:69699084G>A	ENST00000374360.3	+	10	1723	c.1490G>A	c.(1489-1491)cGa>cAa	p.R497Q	DLG3_ENST00000374355.3_Missense_Mutation_p.R160Q|DLG3_ENST00000194900.4_Missense_Mutation_p.R515Q|DLG3_ENST00000542398.1_Missense_Mutation_p.R14Q	NM_021120.3	NP_066943.2	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	497					axon guidance (GO:0007411)|establishment of planar polarity (GO:0001736)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphatase activity (GO:0010923)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)|tight junction (GO:0005923)	phosphatase binding (GO:0019902)			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					GGGTCCCTCCGAACAAGTGAA	0.498																																						ENST00000194900.4																			0				endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22						c.(1543-1545)cGa>cAa		discs, large homolog 3 (Drosophila)							167.0	149.0	155.0					X																	69699084		2203	4300	6503	SO:0001583	missense	1741				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity	g.chrX:69699084G>A	U49089	CCDS14403.1, CCDS43967.1, CCDS55439.1	Xq13.1	2014-06-12	2008-12-15		ENSG00000082458	ENSG00000082458			2902	protein-coding gene	gene with protein product	"""neuroendocrine-dlg"", ""protein phosphatase 1, regulatory subunit 82"""	300189	"""discs, large homolog 3 (neuroendocrine-dlg, Drosophila)"""			9598320	Standard	NM_021120		Approved	NE-Dlg, SAP102, SAP-102, NEDLG, KIAA1232, MRX90, PPP1R82	uc004dyi.2	Q92796	OTTHUMG00000021778	ENST00000374360.3:c.1490G>A	X.37:g.69699084G>A	ENSP00000363480:p.Arg497Gln					DLG3_ENST00000374360.3_Missense_Mutation_p.R497Q|DLG3_ENST00000542398.1_Missense_Mutation_p.R14Q|DLG3_ENST00000374355.3_Missense_Mutation_p.R160Q	p.R515Q			Q92796	DLG3_HUMAN			11	1885	+	Renal(35;0.156)		497			SH3.		B4E0H1|D3DVU5|Q5JUW6|Q5JUW7|Q9ULI8	Missense_Mutation	SNP	ENST00000374360.3	37	c.1544G>A	CCDS14403.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.381357	0.61845	.	.	ENSG00000082458	ENST00000194900;ENST00000374360;ENST00000374355;ENST00000542398	T;T;T;T	0.16897	2.59;2.56;2.31;3.06	5.43	5.43	0.79202	Src homology-3 domain (1);	0.000000	0.64402	U	0.000002	T	0.34048	0.0884	L	0.60845	1.875	0.58432	D	0.999998	D;D;D	0.71674	0.998;0.977;0.998	P;P;P	0.58331	0.781;0.556;0.837	T	0.01225	-1.1413	9	.	.	.	.	16.6727	0.85271	0.0:0.0:1.0:0.0	.	14;160;497	B4E0H1;Q5JUW6;Q92796	.;.;DLG3_HUMAN	Q	515;497;160;14	ENSP00000194900:R515Q;ENSP00000363480:R497Q;ENSP00000363475:R160Q;ENSP00000441393:R14Q	.	R	+	2	0	DLG3	69615809	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	8.883000	0.92426	2.509000	0.84616	0.600000	0.82982	CGA		0.498	DLG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057074.2	NM_021120		61	96	0	0	0	1	0	61	96				
FLNA	2316	broad.mit.edu	37	X	153581770	153581770	+	Silent	SNP	G	G	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chrX:153581770G>T	ENST00000369850.3	-	37	6152	c.5916C>A	c.(5914-5916)ccC>ccA	p.P1972P	FLNA_ENST00000344736.4_Silent_p.P1932P|FLNA_ENST00000422373.1_Silent_p.P1964P|FLNA_ENST00000498491.1_5'Flank|FLNA_ENST00000369856.3_Silent_p.P105P|FLNA_ENST00000360319.4_Silent_p.P1964P	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1972					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGATGTTGATGGGGATGTCGG	0.637																																						ENST00000422373.1																			0				breast(6)	6						c.(5890-5892)ccC>ccA		filamin A, alpha							57.0	62.0	60.0					X																	153581770		2166	4240	6406	SO:0001819	synonymous_variant	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153581770G>T	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.5916C>A	X.37:g.153581770G>T						FLNA_ENST00000360319.4_Silent_p.P1964P|FLNA_ENST00000369856.3_Silent_p.P105P|FLNA_ENST00000369850.3_Silent_p.P1972P|FLNA_ENST00000344736.4_Silent_p.P1932P	p.P1964P	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			36	6140	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1972					E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	c.5892C>A	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	G	7.319	0.616571	0.14129	.	.	ENSG00000196924	ENST00000438732	D	0.82344	-1.6	5.69	4.82	0.62117	.	0.000000	0.85682	D	0.000000	D	0.86802	0.6020	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.86809	0.1997	7	0.66056	D	0.02	.	10.2697	0.43477	0.0782:0.1423:0.7796:0.0	.	.	.	.	Q	197	ENSP00000398215:P197Q	ENSP00000405458:P34Q	P	-	2	0	FLNA	153234964	0.112000	0.22096	1.000000	0.80357	0.929000	0.56500	-0.623000	0.05546	1.165000	0.42670	0.436000	0.28706	CCA		0.637	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			40	85	1	0	1.04594e-18	1	1.18191e-18	40	85				
EFHC1	114327	broad.mit.edu	37	6	52318996	52318996	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr6:52318996G>A	ENST00000371068.5	+	5	930	c.827G>A	c.(826-828)cGa>cAa	p.R276Q	EFHC1_ENST00000433625.2_Missense_Mutation_p.R185Q|EFHC1_ENST00000538167.1_Missense_Mutation_p.R257Q	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	276	DM10 2. {ECO:0000255|PROSITE- ProRule:PRU00665}.					axoneme (GO:0005930)|neuronal cell body (GO:0043025)	calcium ion binding (GO:0005509)|protein C-terminus binding (GO:0008022)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					GTGGAAATTCGAGAGGTCCAC	0.443																																						ENST00000371068.5																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27						c.(826-828)cGa>cAa		EF-hand domain (C-terminal) containing 1							182.0	165.0	170.0					6																	52318996		2203	4300	6503	SO:0001583	missense	114327					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding	g.chr6:52318996G>A	AK001328	CCDS4942.1, CCDS55021.1	6p12.3	2014-02-04			ENSG00000096093	ENSG00000096093		"""EF-hand domain containing"""	16406	protein-coding gene	gene with protein product	"""myoclonin-1"""	608815	"""epilepsy, juvenile myoclonic 1"""	EJM1, EJM		15258581	Standard	NM_018100		Approved	FLJ10466	uc003pap.4	Q5JVL4	OTTHUMG00000014848	ENST00000371068.5:c.827G>A	6.37:g.52318996G>A	ENSP00000360107:p.Arg276Gln					EFHC1_ENST00000433625.2_Missense_Mutation_p.R185Q|EFHC1_ENST00000538167.1_Missense_Mutation_p.R257Q	p.R276Q	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN			5	930	+	Lung NSC(77;0.109)		276			DM10 2.		B4DMU3|F5GZD8|Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6	Missense_Mutation	SNP	ENST00000371068.5	37	c.827G>A	CCDS4942.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.790737	0.70452	.	.	ENSG00000096093	ENST00000371068;ENST00000433625;ENST00000538167	T;T;T	0.44482	0.92;0.92;0.92	5.87	5.0	0.66597	Uncharacterised domain DM10 (2);	0.250637	0.40469	N	0.001087	T	0.34019	0.0883	M	0.88450	2.955	0.38432	D	0.946474	P;B;B	0.36683	0.565;0.438;0.234	B;B;B	0.31751	0.099;0.135;0.126	T	0.39121	-0.9629	10	0.29301	T	0.29	-0.2299	14.7804	0.69764	0.069:0.0:0.931:0.0	.	257;185;276	F5GZD8;B7Z2S4;Q5JVL4	.;.;EFHC1_HUMAN	Q	276;185;257	ENSP00000360107:R276Q;ENSP00000416492:R185Q;ENSP00000444521:R257Q	ENSP00000360107:R276Q	R	+	2	0	EFHC1	52426955	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.764000	0.55264	1.491000	0.48482	0.591000	0.81541	CGA		0.443	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040905.2	NM_018100		26	92	0	0	0	1	0	26	92				
ZNF676	163223	broad.mit.edu	37	19	22364200	22364200	+	Missense_Mutation	SNP	T	T	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr19:22364200T>A	ENST00000397121.2	-	3	636	c.319A>T	c.(319-321)Act>Tct	p.T107S		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	107					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CTCTGTGTAGTTGTTAAACTC	0.333																																						ENST00000397121.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67						c.(319-321)Act>Tct		zinc finger protein 676							140.0	131.0	134.0					19																	22364200		1993	4186	6179	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22364200T>A	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.319A>T	19.37:g.22364200T>A	ENSP00000380310:p.Thr107Ser						p.T107S	NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN			3	636	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	107					A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.319A>T	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	5.035	0.192163	0.09599	.	.	ENSG00000196109	ENST00000397121	T	0.07021	3.23	0.398	-0.797	0.10909	.	.	.	.	.	T	0.09642	0.0237	M	0.83953	2.67	0.09310	N	1	P	0.48764	0.915	B	0.41088	0.347	T	0.30937	-0.9961	9	0.13108	T	0.6	.	3.6591	0.08232	0.0:0.3216:0.0:0.6784	.	107	Q8N7Q3	ZN676_HUMAN	S	107	ENSP00000380310:T107S	ENSP00000380310:T107S	T	-	1	0	ZNF676	22156040	0.000000	0.05858	0.003000	0.11579	0.198000	0.23893	-0.844000	0.04345	-0.456000	0.07043	0.156000	0.16432	ACT		0.333	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		27	40	0	0	0	1	0	27	40				
C7orf49	78996	broad.mit.edu	37	7	134853626	134853626	+	Silent	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr7:134853626G>A	ENST00000393114.3	-	2	230	c.49C>T	c.(49-51)Ctg>Ttg	p.L17L	C7orf49_ENST00000430372.1_Missense_Mutation_p.A2V|C7orf49_ENST00000459937.1_5'UTR|C7orf49_ENST00000483029.2_Intron|RP11-134L10.1_ENST00000608819.1_RNA|C7orf49_ENST00000424142.1_5'UTR			Q9BWK5	MRI_HUMAN	chromosome 7 open reading frame 49	17						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						TGGGCTGTCAGCCATGAGGGA	0.527											OREG0018340	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000430372.1																			0				endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						c.(4-6)gCt>gTt		chromosome 7 open reading frame 49							126.0	123.0	124.0					7																	134853626		2203	4300	6503	SO:0001819	synonymous_variant	78996					cytoplasm		g.chr7:134853626G>A	BC000168	CCDS5838.2, CCDS59082.1, CCDS75663.1	7q33	2011-12-09			ENSG00000122783	ENSG00000122783			22432	protein-coding gene	gene with protein product	"""modulator of retrovirus infection"""					17043244	Standard	NM_001243755		Approved	MGC5242, FLJ27285, FLJ22450, MRI	uc003vsh.3	Q9BWK5	OTTHUMG00000155447	ENST00000393114.3:c.49C>T	7.37:g.134853626G>A			OREG0018340	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1613	C7orf49_ENST00000424142.1_5'UTR|C7orf49_ENST00000483029.2_Intron|C7orf49_ENST00000459937.1_5'UTR|C7orf49_ENST00000393114.3_Silent_p.L17L	p.A2V	NM_001243751.1|NM_024033.3	NP_001230680.1|NP_076938.2	Q9BWK5	MRI_HUMAN			2	330	-			0					Q6NWZ4|Q6ZNR5	Missense_Mutation	SNP	ENST00000393114.3	37	c.5C>T	CCDS5838.2	.	.	.	.	.	.	.	.	.	.	G	9.985	1.229263	0.22542	.	.	ENSG00000122783	ENST00000430372	.	.	.	4.34	3.18	0.36537	.	.	.	.	.	T	0.31670	0.0804	.	.	.	0.23487	N	0.997578	B	0.31290	0.318	B	0.29176	0.099	T	0.24225	-1.0166	7	0.87932	D	0	-12.3355	7.7402	0.28837	0.0:0.0:0.2206:0.7794	.	2	C9JKC7	.	V	2	.	ENSP00000389941:A2V	A	-	2	0	C7orf49	134504166	1.000000	0.71417	1.000000	0.80357	0.508000	0.34012	2.372000	0.44257	0.711000	0.32018	-0.723000	0.03601	GCT		0.527	C7orf49-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340145.1	NM_024033		42	57	0	0	0	1	0	42	57				
ROBO2	6092	broad.mit.edu	37	3	77542517	77542517	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr3:77542517G>C	ENST00000461745.1	+	5	1690	c.790G>C	c.(790-792)Gac>Cac	p.D264H	ROBO2_ENST00000487694.3_Missense_Mutation_p.D280H|ROBO2_ENST00000332191.8_Missense_Mutation_p.D264H	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	264	Ig-like C2-type 3.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GGATGATGCAGACTTGCCAAG	0.418																																						ENST00000461745.1																			0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(790-792)Gac>Cac		roundabout, axon guidance receptor, homolog 2 (Drosophila)							105.0	99.0	101.0					3																	77542517		1912	4146	6058	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77542517G>C	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.790G>C	3.37:g.77542517G>C	ENSP00000417164:p.Asp264His					ROBO2_ENST00000332191.8_Missense_Mutation_p.D264H|ROBO2_ENST00000487694.3_Missense_Mutation_p.D280H	p.D264H	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	5	1690	+			264			Ig-like C2-type 3.		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.790G>C	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.294980	0.81025	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191	T;T;T	0.68479	-0.33;-0.33;-0.33	5.95	5.95	0.96441	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.45867	U	0.000327	T	0.73953	0.3653	N	0.25094	0.71	0.37236	D	0.905916	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.987;0.992	T	0.74748	-0.3560	9	0.52906	T	0.07	.	20.3719	0.98893	0.0:0.0:1.0:0.0	.	280;264;264	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	H	280;280;280;264;264	ENSP00000417335:D280H;ENSP00000417164:D264H;ENSP00000327536:D264H	ENSP00000327536:D264H	D	+	1	0	ROBO2	77625207	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.796000	0.99103	2.826000	0.97356	0.491000	0.48974	GAC		0.418	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		43	6	0	0	0	1	0	43	6				
MUC4	4585	broad.mit.edu	37	3	195511382	195511382	+	Missense_Mutation	SNP	C	C	T	rs200054266	byFrequency	TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr3:195511382C>T	ENST00000463781.3	-	2	7528	c.7069G>A	c.(7069-7071)Gac>Aac	p.D2357N	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.D2357N	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGAAGCGTCGGTGACATGA	0.592													.|||	7	0.00139776	0.0	0.0	5008	,	,		22420	0.0		0.004	False		,,,				2504	0.0031					ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(7069-7071)Gac>Aac		mucin 4, cell surface associated							21.0	17.0	18.0					3																	195511382		682	1575	2257	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195511382C>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.7069G>A	3.37:g.195511382C>T	ENSP00000417498:p.Asp2357Asn					MUC4_ENST00000475231.1_Missense_Mutation_p.D2357N|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	p.D2357N	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	7528	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	116					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.7069G>A	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	C	5.213	0.224896	0.09916	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.33438	1.45;1.41	.	.	.	.	.	.	.	.	T	0.10637	0.0260	N	0.08118	0	0.09310	N	1	B	0.26975	0.165	B	0.04013	0.001	T	0.25328	-1.0135	7	.	.	.	.	2.1447	0.03784	0.0:0.3304:0.3444:0.3251	.	2357	E7ESK3	.	N	2357	ENSP00000417498:D2357N;ENSP00000420243:D2357N	.	D	-	1	0	MUC4	196995777	0.002000	0.14202	0.001000	0.08648	0.062000	0.15995	-0.258000	0.08733	-0.417000	0.07461	0.064000	0.15345	GAC		0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	13	0	0	0	1	0	3	13				
ZSWIM2	151112	broad.mit.edu	37	2	187702052	187702052	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr2:187702052T>C	ENST00000295131.2	-	5	763	c.724A>G	c.(724-726)Att>Gtt	p.I242V		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	242					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TTCCCCTCAATTGGAAACTGT	0.368																																						ENST00000295131.2																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52						c.(724-726)Att>Gtt		zinc finger, SWIM-type containing 2							118.0	113.0	115.0					2																	187702052		2203	4300	6503	SO:0001583	missense	151112				apoptosis		zinc ion binding	g.chr2:187702052T>C	AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"""Zinc fingers, SWIM-type"", ""Zinc fingers, ZZ-type"""	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.724A>G	2.37:g.187702052T>C	ENSP00000295131:p.Ile242Val						p.I242V	NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)		5	763	-			242					B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	ENST00000295131.2	37	c.724A>G	CCDS33348.1	.	.	.	.	.	.	.	.	.	.	T	12.52	1.962304	0.34659	.	.	ENSG00000163012	ENST00000295131	D	0.90324	-2.65	5.77	0.625	0.17665	Zinc finger, ZZ-type (4);	0.128144	0.35585	N	0.003116	D	0.88916	0.6567	M	0.62154	1.92	0.33024	D	0.529283	P	0.47604	0.898	P	0.49192	0.602	D	0.87255	0.2275	10	0.72032	D	0.01	-5.9367	5.3619	0.16093	0.0:0.2204:0.1373:0.6424	.	242	Q8NEG5	ZSWM2_HUMAN	V	242	ENSP00000295131:I242V	ENSP00000295131:I242V	I	-	1	0	ZSWIM2	187410297	0.996000	0.38824	0.987000	0.45799	0.476000	0.33039	1.002000	0.29796	-0.103000	0.12175	-1.178000	0.01721	ATT		0.368	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521		69	17	0	0	0	1	0	69	17				
PBX2	5089	broad.mit.edu	37	6	32155509	32155509	+	Missense_Mutation	SNP	T	T	A	rs202223627		TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr6:32155509T>A	ENST00000375050.4	-	5	1055	c.785A>T	c.(784-786)tAt>tTt	p.Y262F	XXbac-BPG300A18.13_ENST00000559458.1_RNA	NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	262					embryonic limb morphogenesis (GO:0030326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.Y262F(3)		endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						GGAGTAGAAATACTCATTTAG	0.517																																						ENST00000375050.4																			3	Substitution - Missense(3)	p.Y262F(3)	lung(3)	endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						c.(784-786)tAt>tTt		pre-B-cell leukemia homeobox 2																																				SO:0001583	missense	5089						transcription factor binding	g.chr6:32155509T>A		CCDS4748.1	6p21.32	2011-06-20	2007-01-30		ENSG00000204304	ENSG00000204304		"""Homeoboxes / TALE class"""	8633	protein-coding gene	gene with protein product		176311	"""pre-B-cell leukemia transcription factor 2"""			7835890	Standard	NM_002586		Approved	G17, HOX12, PBX2MHC	uc003oav.1	P40425	OTTHUMG00000031116	ENST00000375050.4:c.785A>T	6.37:g.32155509T>A	ENSP00000364190:p.Tyr262Phe						p.Y262F	NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN			5	1055	-			262					A2BFJ2	Missense_Mutation	SNP	ENST00000375050.4	37	c.785A>T	CCDS4748.1	.	.	.	.	.	.	.	.	.	.	T	19.51	3.841111	0.71488	.	.	ENSG00000204304	ENST00000375050	D	0.83673	-1.75	4.63	4.63	0.57726	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.201957	0.34435	N	0.003969	T	0.61837	0.2379	N	0.10629	0.01	0.80722	D	1	P;P	0.42337	0.776;0.502	P;P	0.45232	0.474;0.458	T	0.71314	-0.4630	10	0.49607	T	0.09	-0.8351	12.0363	0.53427	0.0:0.0:0.0:1.0	.	262;262	Q7KZE5;P40425	.;PBX2_HUMAN	F	262	ENSP00000364190:Y262F	ENSP00000364190:Y262F	Y	-	2	0	PBX2	32263487	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.505000	0.81655	1.943000	0.56356	0.459000	0.35465	TAT		0.517	PBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076194.4			3	35	0	0	0	1	0	3	35				
DNAH7	56171	broad.mit.edu	37	2	196851841	196851841	+	Missense_Mutation	SNP	C	C	G	rs188684073		TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr2:196851841C>G	ENST00000312428.6	-	14	1803	c.1703G>C	c.(1702-1704)tGt>tCt	p.C568S		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	568	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAGTTTCCCACAAATAATATC	0.328																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(1702-1704)tGt>tCt		dynein, axonemal, heavy chain 7							104.0	97.0	99.0					2																	196851841		1814	4076	5890	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196851841C>G	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.1703G>C	2.37:g.196851841C>G	ENSP00000311273:p.Cys568Ser						p.C568S	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			14	1803	-			568			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.1703G>C	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	6.250	0.414304	0.11870	.	.	ENSG00000118997	ENST00000312428	T	0.20332	2.08	5.88	4.97	0.65823	.	0.380215	0.26769	N	0.022599	T	0.13415	0.0325	N	0.16743	0.435	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.10474	-1.0628	10	0.15499	T	0.54	.	15.1678	0.72842	0.0:0.7375:0.2625:0.0	.	568	Q8WXX0	DYH7_HUMAN	S	568	ENSP00000311273:C568S	ENSP00000311273:C568S	C	-	2	0	DNAH7	196560086	0.974000	0.33945	1.000000	0.80357	0.941000	0.58515	1.521000	0.35910	2.780000	0.95670	0.655000	0.94253	TGT		0.328	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		6	44	0	0	0	1	0	6	44				
TENM1	10178	broad.mit.edu	37	X	123538968	123538968	+	Silent	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chrX:123538968G>A	ENST00000371130.3	-	26	5346	c.5283C>T	c.(5281-5283)ccC>ccT	p.P1761P	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Silent_p.P1768P	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1761					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TGTGCTCTCCGGGCAATGAGA	0.552																																						ENST00000422452.2																			0											c.(5302-5304)ccC>ccT		teneurin transmembrane protein 1							143.0	119.0	127.0					X																	123538968		2203	4300	6503	SO:0001819	synonymous_variant	10178							g.chrX:123538968G>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.5283C>T	X.37:g.123538968G>A						STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Silent_p.P1761P	p.P1768P	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					27	5367	-								B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	c.5304C>T	CCDS14609.1																																																																																				0.552	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		42	75	0	0	0	1	0	42	75				
KMT2B	9757	broad.mit.edu	37	19	36222829	36222829	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr19:36222829C>T	ENST00000222270.7	+	27	5458	c.5458C>T	c.(5458-5460)Ccc>Tcc	p.P1820S	KMT2B_ENST00000420124.1_Missense_Mutation_p.P1820S|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1820					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										TGGTGAGGACCCCCCACTGGA	0.617																																						ENST00000222270.7																			0											c.(5458-5460)Ccc>Tcc									35.0	40.0	39.0					19																	36222829		2002	4145	6147	SO:0001583	missense	0							g.chr19:36222829C>T	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.5458C>T	19.37:g.36222829C>T	ENSP00000222270:p.Pro1820Ser					KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Missense_Mutation_p.P1820S	p.P1820S	NM_014727.1	NP_055542.1					27	5458	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.5458C>T	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	C	5.209	0.224117	0.09863	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.82344	-1.6;-1.6	4.85	-4.04	0.04010	.	0.540328	0.15484	N	0.259937	T	0.57755	0.2075	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.50684	-0.8799	10	0.07644	T	0.81	.	1.8219	0.03112	0.1291:0.3829:0.1265:0.3614	.	1820	Q9UMN6	MLL4_HUMAN	S	1820	ENSP00000222270:P1820S;ENSP00000398837:P1820S	ENSP00000222270:P1820S	P	+	1	0	AD000671.1	40914669	0.004000	0.15560	0.002000	0.10522	0.220000	0.24768	0.150000	0.16263	-0.577000	0.05967	-0.136000	0.14681	CCC		0.617	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		9	27	0	0	0	1	0	9	27				
MCF2	4168	broad.mit.edu	37	X	138724667	138724667	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chrX:138724667G>C	ENST00000370576.4	-	1	220	c.11C>G	c.(10-12)gCa>gGa	p.A4G	MCF2_ENST00000370573.4_Missense_Mutation_p.A4G|MCF2_ENST00000370578.4_Intron|MCF2_ENST00000338585.6_Missense_Mutation_p.A4G|MCF2_ENST00000520602.1_Intron|MCF2_ENST00000536274.1_Missense_Mutation_p.A4G|MCF2_ENST00000414978.1_Intron|MCF2_ENST00000519895.1_Intron	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	4	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					CCGGGGATTTGCTTCTGCCAT	0.473																																						ENST00000370576.4																			0				NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62						c.(10-12)gCa>gGa		MCF.2 cell line derived transforming sequence							277.0	208.0	231.0					X																	138724667		2203	4300	6503	SO:0001583	missense	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138724667G>C		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.11C>G	X.37:g.138724667G>C	ENSP00000359608:p.Ala4Gly					MCF2_ENST00000370578.4_Intron|MCF2_ENST00000338585.6_Missense_Mutation_p.A4G|MCF2_ENST00000414978.1_Intron|MCF2_ENST00000370573.4_Missense_Mutation_p.A4G|MCF2_ENST00000536274.1_Missense_Mutation_p.A4G|MCF2_ENST00000519895.1_Intron|MCF2_ENST00000520602.1_Intron	p.A4G	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN			1	220	-	Acute lymphoblastic leukemia(192;0.000127)		4			CRAL-TRIO.		B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	ENST00000370576.4	37	c.11C>G	CCDS14667.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.817039	0.50633	.	.	ENSG00000101977	ENST00000370576;ENST00000536274;ENST00000370573;ENST00000338585	T;T;T;T	0.49139	1.1;0.79;1.11;1.15	5.36	5.36	0.76844	.	.	.	.	.	T	0.51176	0.1659	L	0.36672	1.1	0.80722	D	1	B;B;P;D;B	0.54207	0.193;0.122;0.728;0.965;0.122	B;B;B;P;B	0.55615	0.08;0.037;0.223;0.78;0.037	T	0.54397	-0.8300	9	0.87932	D	0	.	11.3243	0.49440	0.0:0.1791:0.8209:0.0	.	4;4;4;4;4	F5H091;B2R9S6;P10911-2;P10911-4;P10911	.;.;.;.;MCF2_HUMAN	G	4	ENSP00000359608:A4G;ENSP00000438155:A4G;ENSP00000359605:A4G;ENSP00000342204:A4G	ENSP00000342204:A4G	A	-	2	0	MCF2	138552333	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.948000	0.49066	2.241000	0.73720	0.600000	0.82982	GCA		0.473	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		93	117	0	0	0	1	0	93	117				
RELN	5649	broad.mit.edu	37	7	103281026	103281026	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr7:103281026C>A	ENST00000428762.1	-	17	2192	c.2033G>T	c.(2032-2034)tGt>tTt	p.C678F	RELN_ENST00000343529.5_Missense_Mutation_p.C678F|RELN_ENST00000424685.2_Missense_Mutation_p.C678F	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	678	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCTGCCAGAACAGAATTTGAG	0.368																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(2032-2034)tGt>tTt		reelin							113.0	102.0	106.0					7																	103281026		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103281026C>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.2033G>T	7.37:g.103281026C>A	ENSP00000392423:p.Cys678Phe					RELN_ENST00000343529.5_Missense_Mutation_p.C678F|RELN_ENST00000424685.2_Missense_Mutation_p.C678F	p.C678F	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	17	2192	-			678			EGF-like 1.		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.2033G>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.815696	0.70912	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.24538	1.85;1.85;1.85	6.07	6.07	0.98685	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.093556	0.85682	D	0.000000	T	0.58708	0.2141	M	0.83953	2.67	0.80722	D	1	D;D	0.76494	0.999;0.992	D;D	0.85130	0.997;0.982	T	0.60403	-0.7270	10	0.87932	D	0	.	20.6525	0.99598	0.0:1.0:0.0:0.0	.	678;678	P78509-2;P78509	.;RELN_HUMAN	F	678	ENSP00000392423:C678F;ENSP00000345694:C678F;ENSP00000388446:C678F	ENSP00000345694:C678F	C	-	2	0	RELN	103068262	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.863000	0.75489	2.890000	0.99128	0.585000	0.79938	TGT		0.368	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		15	8	1	0	1.3612e-06	1	1.42422e-06	15	8				
PDK3	5165	broad.mit.edu	37	X	24549846	24549846	+	Missense_Mutation	SNP	T	T	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chrX:24549846T>A	ENST00000379162.4	+	10	1271	c.1036T>A	c.(1036-1038)Tcc>Acc	p.S346T	PDK3_ENST00000441463.2_Missense_Mutation_p.S346T	NM_005391.4	NP_005382.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	346	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cell death (GO:0008219)|cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to glucose stimulus (GO:0071333)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|peptidyl-serine phosphorylation (GO:0018105)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|regulation of reactive oxygen species metabolic process (GO:2000377)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GAAACTGTATTCCATGGAAGG	0.358																																						ENST00000441463.2																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1036-1038)Tcc>Acc		pyruvate dehydrogenase kinase, isozyme 3							304.0	250.0	269.0					X																	24549846		2203	4300	6503	SO:0001583	missense	5165				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chrX:24549846T>A	L42452	CCDS14212.1, CCDS48088.1	Xp22.12	2008-02-05	2005-11-16		ENSG00000067992	ENSG00000067992			8811	protein-coding gene	gene with protein product		300906	"""pyruvate dehydrogenase kinase, isoenzyme 3"""			7499431	Standard	NM_001142386		Approved		uc004dbh.3	Q15120	OTTHUMG00000021269	ENST00000379162.4:c.1036T>A	X.37:g.24549846T>A	ENSP00000368460:p.Ser346Thr					PDK3_ENST00000379162.4_Missense_Mutation_p.S346T	p.S346T	NM_001142386.2	NP_001135858.1	Q15120	PDK3_HUMAN			10	1036	+			346			Histidine kinase.		B4DXG6	Missense_Mutation	SNP	ENST00000379162.4	37	c.1036T>A	CCDS14212.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.595502	0.86953	.	.	ENSG00000067992	ENST00000379162;ENST00000441463	D;D	0.83075	-1.68;-1.68	5.26	5.26	0.73747	Signal transduction histidine kinase, core (1);ATPase-like, ATP-binding domain (4);	0.000000	0.85682	D	0.000000	D	0.91808	0.7408	M	0.88310	2.945	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.69824	0.966;0.966	D	0.93150	0.6549	10	0.66056	D	0.02	.	14.2518	0.66026	0.0:0.0:0.0:1.0	.	346;346	B4DXG6;Q15120	.;PDK3_HUMAN	T	346	ENSP00000368460:S346T;ENSP00000387536:S346T	ENSP00000368460:S346T	S	+	1	0	PDK3	24459767	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.525000	0.81892	1.941000	0.56285	0.441000	0.28932	TCC		0.358	PDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056097.1	NM_005391		78	118	0	0	0	1	0	78	118				
ZNF444	55311	broad.mit.edu	37	19	56658404	56658404	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr19:56658404C>T	ENST00000337080.3	+	3	491	c.124C>T	c.(124-126)Cgc>Tgc	p.R42C	ZNF444_ENST00000592949.1_Missense_Mutation_p.R42C	NM_001253792.1|NM_018337.3	NP_001240721.1|NP_060807.2	Q8N0Y2	ZN444_HUMAN	zinc finger protein 444	42	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|endometrium(1)|lung(5)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0531)		GGGGCTGCTCCGCGCCCTGTG	0.746																																						ENST00000337080.3																			0				NS(1)|endometrium(1)|lung(5)	7						c.(124-126)Cgc>Tgc		zinc finger protein 444							6.0	7.0	7.0					19																	56658404		1986	3949	5935	SO:0001583	missense	55311				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56658404C>T	AB052954	CCDS12939.1, CCDS59426.1	19q13.43	2013-01-09			ENSG00000167685	ENSG00000167685		"""-"", ""Zinc fingers, C2H2-type"""	16052	protein-coding gene	gene with protein product		607874				11978792, 19760602	Standard	NM_001253792		Approved	ZSCAN17, FLJ11137, EZF2	uc002qmm.3	Q8N0Y2		ENST00000337080.3:c.124C>T	19.37:g.56658404C>T	ENSP00000338860:p.Arg42Cys					ZNF444_ENST00000592949.1_Missense_Mutation_p.R42C	p.R42C	NM_001253792.1|NM_018337.3	NP_001240721.1|NP_060807.2	Q8N0Y2	ZN444_HUMAN		GBM - Glioblastoma multiforme(193;0.0531)	3	491	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	42			SCAN box.		Q8TEQ9|Q8WU35|Q9NUU1	Missense_Mutation	SNP	ENST00000337080.3	37	c.124C>T	CCDS12939.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.982753	0.74474	.	.	ENSG00000167685	ENST00000337080	T	0.05855	3.38	3.7	3.7	0.42460	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.24967	0.0606	M	0.83692	2.655	0.45621	D	0.99855	D;D	0.89917	1.0;1.0	D;D	0.79784	0.988;0.993	T	0.01884	-1.1254	9	0.72032	D	0.01	.	11.6447	0.51255	0.0:1.0:0.0:0.0	.	42;42	Q8N0Y2-2;Q8N0Y2	.;ZN444_HUMAN	C	42	ENSP00000338860:R42C	ENSP00000338860:R42C	R	+	1	0	ZNF444	61350216	0.008000	0.16893	0.824000	0.32777	0.860000	0.49131	1.109000	0.31135	2.002000	0.58637	0.484000	0.47621	CGC		0.746	ZNF444-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457503.1	NM_018337		12	10	0	0	0	1	0	12	10				
SSPO	23145	broad.mit.edu	37	7	149518605	149518605	+	RNA	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr7:149518605G>A	ENST00000378016.2	+	0	12674							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGCACCCTGGGGGACAGCTGG	0.721																																						ENST00000378016.2																			0													SCO-spondin							4.0	6.0	5.0					7																	149518605		1861	3989	5850			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149518605G>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149518605G>A										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	12674	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.721	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				4	6	0	0	0	1	0	4	6				
KMT2B	9757	broad.mit.edu	37	19	36221463	36221463	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr19:36221463G>A	ENST00000222270.7	+	25	5222	c.5222G>A	c.(5221-5223)gGt>gAt	p.G1741D	KMT2B_ENST00000420124.1_Missense_Mutation_p.G1741D|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1741	FYR N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00875}.				chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GACTCCCTGGGTACTCTGTCT	0.627																																						ENST00000222270.7																			0											c.(5221-5223)gGt>gAt									243.0	255.0	251.0					19																	36221463		2179	4271	6450	SO:0001583	missense	0							g.chr19:36221463G>A	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.5222G>A	19.37:g.36221463G>A	ENSP00000222270:p.Gly1741Asp					KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Missense_Mutation_p.G1741D	p.G1741D	NM_014727.1	NP_055542.1					25	5222	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.5222G>A	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.112075	0.77210	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.99591	-6.24;-6.24	5.79	5.79	0.91817	FY-rich, N-terminal (1);FY-rich, N-terminal subgroup (1);	0.000000	0.45867	D	0.000338	D	0.99701	0.9886	M	0.89968	3.075	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97859	1.0279	10	0.87932	D	0	.	18.7978	0.92003	0.0:0.0:1.0:0.0	.	1741	Q9UMN6	MLL4_HUMAN	D	1741	ENSP00000222270:G1741D;ENSP00000398837:G1741D	ENSP00000222270:G1741D	G	+	2	0	AD000671.1	40913303	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	9.810000	0.99221	2.735000	0.93741	0.655000	0.94253	GGT		0.627	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		128	161	0	0	0	1	0	128	161				
PTEN	5728	broad.mit.edu	37	10	89720877	89720877	+	Splice_Site	SNP	T	T	G			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr10:89720877T>G	ENST00000371953.3	+	8	2383		c.e8+2		PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog						activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.?(1)|p.G165_*404del(1)|p.D326_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AATTTTAAGGTCAGTTAAATT	0.323		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		49	Whole gene deletion(37)|Deletion - Frameshift(9)|Deletion - In frame(2)|Unknown(1)	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.?(1)|p.G165_*404del(1)|p.D326_K342del(1)	prostate(16)|central_nervous_system(11)|skin(5)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)|endometrium(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.e8+2		phosphatase and tensin homolog							44.0	47.0	46.0					10																	89720877		2203	4299	6502	SO:0001630	splice_region_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720877T>G	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.1026+2T>G	10.37:g.89720877T>G		HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_ENST00000472832.1_3'UTR		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	8	2383	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)						B2R904|F2YHV0|O00633|O02679|Q6ICT7	Splice_Site	SNP	ENST00000371953.3	37		CCDS31238.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.198315	0.79015	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3536	0.74409	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTEN	89710857	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.614000	0.82996	2.034000	0.60081	0.482000	0.46254	.		0.323	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	Intron	7	30	0	0	0	1	0	7	30				
TRMT61B	55006	broad.mit.edu	37	2	29084138	29084138	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr2:29084138C>T	ENST00000306108.5	-	3	862	c.839G>A	c.(838-840)cGa>cAa	p.R280Q	TRMT61B_ENST00000484060.1_5'UTR	NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	280					mitochondrial tRNA methylation (GO:0070901)|protein homooligomerization (GO:0051260)	mitochondrion (GO:0005739)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						GTGGTCTTTTCGTACCTCAAA	0.318																																						ENST00000306108.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						c.(838-840)cGa>cAa		tRNA methyltransferase 61 homolog B (S. cerevisiae)							145.0	126.0	132.0					2																	29084138		2203	4300	6503	SO:0001583	missense	55006						tRNA (adenine-N1-)-methyltransferase activity	g.chr2:29084138C>T	BC010365	CCDS1768.1	2p23.2	2009-01-09			ENSG00000171103	ENSG00000171103			26070	protein-coding gene	gene with protein product						11230166	Standard	NM_017910		Approved	FLJ20628	uc002rmm.3	Q9BVS5	OTTHUMG00000128433	ENST00000306108.5:c.839G>A	2.37:g.29084138C>T	ENSP00000302801:p.Arg280Gln					TRMT61B_ENST00000484060.1_5'UTR	p.R280Q	NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN			3	862	-			280					Q9H0Q9|Q9NWS7	Missense_Mutation	SNP	ENST00000306108.5	37	c.839G>A	CCDS1768.1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.840290	0.71488	.	.	ENSG00000171103	ENST00000306108	T	0.41758	0.99	4.76	3.89	0.44902	.	0.000000	0.64402	D	0.000004	T	0.61899	0.2384	M	0.76433	2.335	0.34406	D	0.695879	D;D	0.89917	1.0;1.0	D;D	0.68483	0.931;0.958	T	0.75340	-0.3352	10	0.87932	D	0	.	12.815	0.57660	0.0:0.92:0.0:0.08	.	280;280	F8WDR2;Q9BVS5	.;TR61B_HUMAN	Q	280	ENSP00000302801:R280Q	ENSP00000302801:R280Q	R	-	2	0	TRMT61B	28937642	1.000000	0.71417	0.986000	0.45419	0.606000	0.37113	3.867000	0.56047	1.026000	0.39733	0.479000	0.44913	CGA		0.318	TRMT61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250224.1	NM_017910		9	33	0	0	0	1	0	9	33				
SLC1A6	6511	broad.mit.edu	37	19	15067364	15067364	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr19:15067364C>T	ENST00000221742.3	-	6	1100	c.1093G>A	c.(1093-1095)Gtc>Atc	p.V365I	SLC1A6_ENST00000430939.2_Missense_Mutation_p.V301I|SLC1A6_ENST00000600144.1_Intron	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	365					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						CGGTGAGTGACGAGGAAGTAG	0.617																																						ENST00000430939.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(901-903)Gtc>Atc		solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	L-Glutamic Acid(DB00142)						172.0	134.0	147.0					19																	15067364		2203	4300	6503	SO:0001583	missense	6511				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15067364C>T		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.1093G>A	19.37:g.15067364C>T	ENSP00000221742:p.Val365Ile					SLC1A6_ENST00000221742.3_Missense_Mutation_p.V365I|SLC1A6_ENST00000600144.1_Intron	p.V301I			P48664	EAA4_HUMAN			6	1030	-			365					Q8N753	Missense_Mutation	SNP	ENST00000221742.3	37	c.901G>A	CCDS12321.1	.	.	.	.	.	.	.	.	.	.	c	2.021	-0.424764	0.04734	.	.	ENSG00000105143	ENST00000430939;ENST00000221742	T;T	0.58652	0.32;0.32	3.96	-1.06	0.10002	.	0.403999	0.26658	N	0.023178	T	0.29817	0.0745	N	0.05330	-0.07	0.80722	D	1	B;B	0.27853	0.191;0.007	B;B	0.31614	0.133;0.004	T	0.20140	-1.0284	10	0.06236	T	0.91	-11.0254	11.0045	0.47626	0.0:0.7689:0.0:0.2311	.	301;365	E7EV13;P48664	.;EAA4_HUMAN	I	301;365	ENSP00000409386:V301I;ENSP00000221742:V365I	ENSP00000221742:V365I	V	-	1	0	SLC1A6	14928364	0.003000	0.15002	0.925000	0.36789	0.931000	0.56810	0.028000	0.13644	-0.385000	0.07833	-1.397000	0.01146	GTC		0.617	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		19	27	0	0	0	1	0	19	27				
CT45A5	441521	broad.mit.edu	37	X	134948067	134948067	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chrX:134948067C>A	ENST00000463085.2	-	3	347	c.258G>T	c.(256-258)caG>caT	p.Q86H	CT45A4_ENST00000420087.2_Intron|CT45A5_ENST00000491480.1_Missense_Mutation_p.Q86H|CT45A5_ENST00000370724.3_Missense_Mutation_p.Q86H			Q6NSH3	CT455_HUMAN	cancer/testis antigen family 45, member A5	86										endometrium(1)|large_intestine(2)|lung(6)	9						TACCAGGTTTCTGCATCATCC	0.468																																						ENST00000370724.3																			0				endometrium(1)|large_intestine(2)|lung(6)	9						c.(256-258)caG>caT		cancer/testis antigen family 45, member A5							183.0	169.0	174.0					X																	134948067		2189	4265	6454	SO:0001583	missense	441521							g.chrX:134948067C>A	AY743713	CCDS35406.1	Xq26.3	2009-03-12				ENSG00000269586			33270	protein-coding gene	gene with protein product	"""cancer/testis antigen CT45-5"""	300796				15905330	Standard	XM_006724759		Approved	CT45-5, CT45.5	uc022ces.1	Q6NSH3		ENST00000463085.2:c.258G>T	X.37:g.134948067C>A	ENSP00000424778:p.Gln86His					CT45A4_ENST00000420087.2_Intron|CT45A5_ENST00000491480.1_Missense_Mutation_p.Q86H	p.Q86H	NM_001007551.3|NM_001172288.1	NP_001007552.1|NP_001165759.1	Q6NSH3	CT455_HUMAN			3	502	-			86					A8K842|B7ZMC5	Missense_Mutation	SNP	ENST00000463085.2	37	c.258G>T	CCDS35406.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.525647	0.00147	.	.	ENSG00000242284	ENST00000370724;ENST00000491480	T;T	0.41065	1.01;1.01	2.18	0.0219	0.14131	.	0.911356	0.09446	N	0.801101	T	0.21186	0.0510	N	0.16790	0.44	0.09310	N	1	P	0.41848	0.763	B	0.40285	0.325	T	0.09862	-1.0655	10	0.09084	T	0.74	-4.1505	3.9381	0.09314	0.0:0.2701:0.4657:0.2642	.	86	Q6NSH3	CT455_HUMAN	H	86	ENSP00000359759:Q86H;ENSP00000425997:Q86H	ENSP00000359759:Q86H	Q	-	3	2	CT45A5	134775733	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.257000	0.08745	-0.263000	0.09378	-0.781000	0.03364	CAG		0.468	CT45A5-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472589.1	NM_001007551		171	198	1	0	4.61621e-74	1	5.43366e-74	171	198				
TSR1	55720	broad.mit.edu	37	17	2228662	2228662	+	Silent	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr17:2228662C>T	ENST00000301364.5	-	12	3035	c.1956G>A	c.(1954-1956)gcG>gcA	p.A652A		NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	652					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						CATAGACTGTCGCCACCAGGG	0.453																																						ENST00000301364.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						c.(1954-1956)gcG>gcA		TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)							97.0	84.0	89.0					17																	2228662		2203	4300	6503	SO:0001819	synonymous_variant	55720				ribosome assembly	nucleolus	protein binding	g.chr17:2228662C>T	AK026565	CCDS32525.1	17p13.3	2006-04-20	2006-04-20			ENSG00000167721			25542	protein-coding gene	gene with protein product		611214	"""TSR1, 20S rRNA accumulation, homolog (yeast)"""			10718198	Standard	NM_018128		Approved	FLJ10534	uc002fuj.3	Q2NL82		ENST00000301364.5:c.1956G>A	17.37:g.2228662C>T							p.A652A	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN			12	3035	-			652					Q8WUY5|Q9NVT0|Q9P2E6	Silent	SNP	ENST00000301364.5	37	c.1956G>A	CCDS32525.1																																																																																				0.453	TSR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438180.2	NM_018128		7	33	0	0	0	1	0	7	33				
GAS8	2622	broad.mit.edu	37	16	90094129	90094129	+	Splice_Site	SNP	A	A	G			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr16:90094129A>G	ENST00000268699.4	+	2	211	c.89A>G	c.(88-90)cAg>cGg	p.Q30R	GAS8_ENST00000540721.1_Intron|GAS8_ENST00000536122.1_Splice_Site_p.Q5R	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	30	Regulates microtubule-binding. {ECO:0000250}.				cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		AGCAAGGAGCAGGTGAGCAGA	0.612																																						ENST00000268699.4																			0				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.e2+1		growth arrest-specific 8							85.0	82.0	83.0					16																	90094129		2198	4300	6498	SO:0001630	splice_region_variant	2622				negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding	g.chr16:90094129A>G	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"""growth arrest-specific 11"""	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.90+1A>G	16.37:g.90094129A>G						GAS8_ENST00000536122.1_Splice_Site_p.Q5_splice|GAS8_ENST00000540721.1_Intron	p.Q30_splice	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.029)	2	211	+		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)	30			Regulates microtubule-binding (By similarity).		B2RCT1|B7Z4U1|G3V1L5|Q2M234	Splice_Site	SNP	ENST00000268699.4	37	c.90_splice	CCDS10992.1	.	.	.	.	.	.	.	.	.	.	A	14.03	2.414735	0.42817	.	.	ENSG00000141013	ENST00000536122;ENST00000268699;ENST00000537797	T;T	0.35973	1.28;1.32	5.11	5.11	0.69529	.	0.051871	0.85682	D	0.000000	T	0.54224	0.1845	M	0.86651	2.83	0.80722	D	1	P;P	0.52316	0.897;0.952	P;P	0.49887	0.625;0.521	T	0.63808	-0.6553	9	.	.	.	-48.7826	14.8952	0.70639	1.0:0.0:0.0:0.0	.	30;30	B7Z9B0;O95995	.;GAS8_HUMAN	R	5;30;30	ENSP00000440977:Q5R;ENSP00000268699:Q30R	.	Q	+	2	0	GAS8	88621630	1.000000	0.71417	1.000000	0.80357	0.637000	0.38172	7.587000	0.82613	1.946000	0.56461	0.459000	0.35465	CAG		0.612	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2		Missense_Mutation	29	28	0	0	0	1	0	29	28				
SERPINB4	6318	broad.mit.edu	37	18	61310414	61310414	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr18:61310414T>C	ENST00000341074.5	-	3	318	c.203A>G	c.(202-204)gAa>gGa	p.E68G	SERPINB4_ENST00000356424.6_Missense_Mutation_p.E68G	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	68					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						TGCAGCTTTTTCTGTGGTGTT	0.403																																						ENST00000341074.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						c.(202-204)gAa>gGa		serpin peptidase inhibitor, clade B (ovalbumin), member 4																																				SO:0001583	missense	6318							g.chr18:61310414T>C	X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"""Serine (or cysteine) peptidase inhibitors"""	10570	protein-coding gene	gene with protein product	"""squamous cell carcinoma antigen 2"""	600518	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"""	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.203A>G	18.37:g.61310414T>C	ENSP00000343445:p.Glu68Gly					SERPINB4_ENST00000356424.6_Missense_Mutation_p.E68G	p.E68G	NM_002974.2	NP_002965.1					3	318	-								A8K847	Missense_Mutation	SNP	ENST00000341074.5	37	c.203A>G	CCDS11986.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.852|4.852	0.158331|0.158331	0.09236|0.09236	.|.	.|.	ENSG00000206073|ENSG00000206073	ENST00000341074;ENST00000356424;ENST00000436264|ENST00000413673	D;D;D|.	0.85013|.	-1.93;-1.92;-1.71|.	3.94|3.94	-0.495|-0.495	0.12030|0.12030	Serpin domain (3);|.	.|.	.|.	.|.	.|.	T|T	0.10809|0.10809	0.0264|0.0264	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|.	0.06786|.	0.001;0.0|.	B;B|.	0.04013|.	0.001;0.0|.	T|T	0.25537|0.25537	-1.0129|-1.0129	9|5	0.22706|.	T|.	0.39|.	.|.	0.8302|0.8302	0.01129|0.01129	0.1646:0.1456:0.3048:0.385|0.1646:0.1456:0.3048:0.385	.|.	68;68|.	P48594;Q9BYF7|.	SPB4_HUMAN;.|.	G|E	68|70	ENSP00000343445:E68G;ENSP00000348795:E68G;ENSP00000399796:E68G|.	ENSP00000343445:E68G|.	E|K	-|-	2|1	0|0	SERPINB4|SERPINB4	59461394|59461394	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.021000|0.021000	0.10359|0.10359	-0.430000|-0.430000	0.06973|0.06973	-0.175000|-0.175000	0.10725|0.10725	0.416000|0.416000	0.27883|0.27883	GAA|AAA		0.403	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041		21	31	0	0	0	1	0	21	31				
MT-CO1	4512	broad.mit.edu	37	M	7332	7332	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chrM:7332G>A	ENST00000361624.2	+	1	1429	c.1429G>A	c.(1429-1431)Gct>Act	p.A477T	MT-TK_ENST00000387421.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-TA_ENST00000387392.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-CO2_ENST00000361739.1_5'Flank|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-CO3_ENST00000362079.2_5'Flank|MT-TM_ENST00000387377.1_RNA|MT-TD_ENST00000387419.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	477					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						GAGAAGCCTTCGCTTCGAAGC	0.423																																						ENST00000361624.2																			0				breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						c.(1429-1431)Gct>Act		mitochondrially encoded cytochrome c oxidase I																																				SO:0001583	missense	4512							g.chrM:7332G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.1429G>A	M.37:g.7332G>A	ENSP00000354499:p.Ala477Thr						p.477_477insT							1	1429	+								Q34770	Missense_Mutation	SNP	ENST00000361624.2	37	c.1429G>A																																																																																					0.423	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024028		84	10	0	0	0	1	0	84	10				
NAT16	375607	broad.mit.edu	37	7	100815486	100815486	+	Silent	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr7:100815486G>A	ENST00000300303.2	-	4	1222	c.984C>T	c.(982-984)aaC>aaT	p.N328N	NAT16_ENST00000455377.1_Silent_p.N328N	NM_198571.2	NP_940973.2	Q8N8M0	NAT16_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)	328							N-acetyltransferase activity (GO:0008080)										GGCACATGACGTTGAGGCCAA	0.642																																						ENST00000300303.2																			0											c.(982-984)aaC>aaT		N-acetyltransferase 16 (GCN5-related, putative)							23.0	23.0	23.0					7																	100815486		2197	4294	6491	SO:0001819	synonymous_variant	375607						N-acetyltransferase activity	g.chr7:100815486G>A	AK096556	CCDS5713.1	7q22.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000167011	ENSG00000167011			22030	protein-coding gene	gene with protein product		615783	"""chromosome 7 open reading frame 52"""	C7orf52			Standard	NM_198571		Approved	FLJ39237	uc003uxy.2	Q8N8M0	OTTHUMG00000157110	ENST00000300303.2:c.984C>T	7.37:g.100815486G>A						NAT16_ENST00000455377.1_Silent_p.N328N	p.N328N	NM_198571.2	NP_940973.2	Q8N8M0	CG052_HUMAN			4	1222	-			328					B3KRS2|Q8NDR1	Silent	SNP	ENST00000300303.2	37	c.984C>T	CCDS5713.1																																																																																				0.642	NAT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347465.1	NM_198571		16	37	0	0	0	1	0	16	37				
KCND3	3752	broad.mit.edu	37	1	112319736	112319736	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr1:112319736A>G	ENST00000315987.2	-	7	2157	c.1678T>C	c.(1678-1680)Tct>Cct	p.S560P	KCND3_ENST00000369697.1_Missense_Mutation_p.S541P|KCND3_ENST00000302127.4_Missense_Mutation_p.S541P	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	560					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	GGCAGGTTAGAATTGGGCAGG	0.592																																						ENST00000369697.1																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49						c.(1621-1623)Tct>Cct		potassium voltage-gated channel, Shal-related subfamily, member 3							201.0	179.0	186.0					1																	112319736		2203	4300	6503	SO:0001583	missense	3752					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	g.chr1:112319736A>G	AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6239	protein-coding gene	gene with protein product		605411	"""spinocerebellar ataxia 22"", ""spinocerebellar ataxia 19"""	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.1678T>C	1.37:g.112319736A>G	ENSP00000319591:p.Ser560Pro					KCND3_ENST00000315987.2_Missense_Mutation_p.S560P|KCND3_ENST00000302127.4_Missense_Mutation_p.S541P	p.S541P			Q9UK17	KCND3_HUMAN		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	5	1690	-		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)	560					O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Missense_Mutation	SNP	ENST00000315987.2	37	c.1621T>C	CCDS843.1	.	.	.	.	.	.	.	.	.	.	A	16.57	3.160793	0.57368	.	.	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	D;D;D	0.84442	-1.85;-1.85;-1.85	5.32	5.32	0.75619	Potassium channel, voltage dependent, Kv4, C-terminal (1);	0.104732	0.64402	D	0.000003	T	0.72162	0.3426	L	0.35341	1.055	0.52099	D	0.999947	B;B	0.14012	0.005;0.009	B;B	0.23852	0.013;0.049	T	0.73369	-0.4004	10	0.72032	D	0.01	.	14.9359	0.70954	1.0:0.0:0.0:0.0	.	541;560	Q14D71;Q9UK17	.;KCND3_HUMAN	P	541;560;541	ENSP00000358711:S541P;ENSP00000319591:S560P;ENSP00000306923:S541P	ENSP00000306923:S541P	S	-	1	0	KCND3	112121259	1.000000	0.71417	0.942000	0.38095	0.944000	0.59088	5.618000	0.67722	2.008000	0.58898	0.528000	0.53228	TCT		0.592	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198		15	71	0	0	0	1	0	15	71				
PDK2	5164	broad.mit.edu	37	17	48184459	48184459	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr17:48184459G>C	ENST00000503176.1	+	6	788	c.627G>C	c.(625-627)aaG>aaC	p.K209N	PDK2_ENST00000007708.3_Missense_Mutation_p.K145N	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN	pyruvate dehydrogenase kinase, isozyme 2	209	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cellular metabolic process (GO:0044237)|cellular response to nutrient (GO:0031670)|cellular response to reactive oxygen species (GO:0034614)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of gluconeogenesis (GO:0006111)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						ACATGGCTAAGCTCCTGTGTG	0.562									Autosomal Dominant Polycystic Kidney Disease																													ENST00000503176.1																			0				central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						c.(625-627)aaG>aaC		pyruvate dehydrogenase kinase, isozyme 2							169.0	119.0	136.0					17																	48184459		2203	4300	6503	SO:0001583	missense	5164	Autosomal Dominant Polycystic Kidney Disease	Familial Cancer Database	ADPKD	glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|nucleus	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chr17:48184459G>C	L42451	CCDS11559.1, CCDS56039.1	17q21.33	2012-07-18	2005-11-16		ENSG00000005882	ENSG00000005882			8810	protein-coding gene	gene with protein product		602525	"""pyruvate dehydrogenase kinase, isoenzyme 2"""			7499431	Standard	NM_001199898		Approved	PDHK2	uc002iqc.3	Q15119	OTTHUMG00000161948	ENST00000503176.1:c.627G>C	17.37:g.48184459G>C	ENSP00000420927:p.Lys209Asn					PDK2_ENST00000007708.3_Missense_Mutation_p.K145N	p.K209N	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN			6	788	+			209			Histidine kinase.		A8K3A7|B3KNW0|Q6P515|Q9BS05	Missense_Mutation	SNP	ENST00000503176.1	37	c.627G>C	CCDS11559.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.784818	0.70222	.	.	ENSG00000005882	ENST00000007708;ENST00000503176;ENST00000503614;ENST00000510219	T;T;T;T	0.56941	0.85;0.84;0.43;0.43	4.99	2.96	0.34315	ATPase-like, ATP-binding domain (2);	0.064015	0.64402	D	0.000009	T	0.64461	0.2600	M	0.84585	2.705	0.53005	D	0.999968	D	0.53745	0.962	P	0.51582	0.674	T	0.71646	-0.4530	10	0.87932	D	0	-25.4782	11.0665	0.47979	0.1663:0.0:0.8337:0.0	.	209	Q15119	PDK2_HUMAN	N	145;209;145;114	ENSP00000007708:K145N;ENSP00000420927:K209N;ENSP00000425265:K145N;ENSP00000423310:K114N	ENSP00000007708:K145N	K	+	3	2	PDK2	45539458	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.294000	0.43567	1.235000	0.43724	0.455000	0.32223	AAG		0.562	PDK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366492.2	NM_002611		13	81	0	0	0	1	0	13	81				
NPLOC4	55666	broad.mit.edu	37	17	79563195	79563195	+	Missense_Mutation	SNP	C	C	T	rs373063460		TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr17:79563195C>T	ENST00000331134.6	-	11	1282	c.1067G>A	c.(1066-1068)cGg>cAg	p.R356Q	NPLOC4_ENST00000374747.5_Missense_Mutation_p.R356Q|NPLOC4_ENST00000539314.1_Missense_Mutation_p.R195Q	NM_017921.2	NP_060391.2	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	356					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)	endoplasmic reticulum (GO:0005783)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TGGAGAGAGCCGGCACATGTT	0.443																																						ENST00000374747.5																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11						c.(1066-1068)cGg>cAg		nuclear protein localization 4 homolog (S. cerevisiae)		C	GLN/ARG	2,3800		0,2,1899	100.0	100.0	100.0		1067	5.6	1.0	17		100	0,8230		0,0,4115	no	missense	NPLOC4	NM_017921.2	43	0,2,6014	TT,TC,CC		0.0,0.0526,0.0166	probably-damaging	356/609	79563195	2,12030	1901	4115	6016	SO:0001583	missense	55666				cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding	g.chr17:79563195C>T	AB040932	CCDS45812.1	17q25.3	2012-09-20			ENSG00000182446	ENSG00000182446			18261	protein-coding gene	gene with protein product		606590				11574150, 10811609	Standard	NM_017921		Approved	NPL4, FLJ20657, KIAA1499	uc002kas.3	Q8TAT6	OTTHUMG00000177990	ENST00000331134.6:c.1067G>A	17.37:g.79563195C>T	ENSP00000331487:p.Arg356Gln					NPLOC4_ENST00000539314.1_Missense_Mutation_p.R195Q|NPLOC4_ENST00000331134.6_Missense_Mutation_p.R356Q	p.R356Q			Q8TAT6	NPL4_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		11	1196	-	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		356					Q8N3J1|Q9H8V2|Q9H964|Q9NWR5|Q9P229	Missense_Mutation	SNP	ENST00000331134.6	37	c.1067G>A	CCDS45812.1	.	.	.	.	.	.	.	.	.	.	C	36	5.833804	0.97003	5.26E-4	0.0	ENSG00000182446	ENST00000331134;ENST00000374747;ENST00000539314	.	.	.	5.63	5.63	0.86233	Nuclear pore localisation protein NPL4 (1);	0.000000	0.85682	D	0.000000	D	0.84037	0.5384	M	0.85630	2.765	0.80722	D	1	D;D;D	0.89917	0.995;1.0;0.999	D;D;D	0.69654	0.948;0.965;0.949	D	0.85580	0.1239	9	0.62326	D	0.03	-24.8637	19.7363	0.96205	0.0:1.0:0.0:0.0	.	195;356;356	B4DG89;Q8TAT6-2;Q8TAT6	.;.;NPL4_HUMAN	Q	356;355;195	.	ENSP00000331487:R356Q	R	-	2	0	NPLOC4	77173633	1.000000	0.71417	0.992000	0.48379	0.930000	0.56654	6.035000	0.70940	2.661000	0.90470	0.650000	0.86243	CGG		0.443	NPLOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440140.1			57	20	0	0	0	1	0	57	20				
CHD4	1108	broad.mit.edu	37	12	6700637	6700637	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr12:6700637A>G	ENST00000357008.2	-	22	3498	c.3335T>C	c.(3334-3336)tTc>tCc	p.F1112S	CHD4_ENST00000309577.6_Missense_Mutation_p.F1112S|CHD4_ENST00000544040.1_Missense_Mutation_p.F1105S|CHD4_ENST00000544484.1_Missense_Mutation_p.F1109S	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1112	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						CTCACCATTGAAGCGGTCAAT	0.428																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(3334-3336)tTc>tCc		chromodomain helicase DNA binding protein 4							147.0	125.0	133.0					12																	6700637		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6700637A>G	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.3335T>C	12.37:g.6700637A>G	ENSP00000349508:p.Phe1112Ser					CHD4_ENST00000544040.1_Missense_Mutation_p.F1105S|CHD4_ENST00000357008.2_Missense_Mutation_p.F1112S|CHD4_ENST00000544484.1_Missense_Mutation_p.F1109S	p.F1112S			Q14839	CHD4_HUMAN			22	3498	-			1112			Helicase C-terminal.		Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.3335T>C	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	A	18.55	3.649305	0.67358	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62	5.15	5.15	0.70609	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.97579	0.9207	H	0.99590	4.645	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.981	D;D;D	0.91635	0.996;0.999;0.972	D	0.99246	1.0886	10	0.87932	D	0	.	14.9841	0.71332	1.0:0.0:0.0:0.0	.	1112;1112;1105	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	S	1109;1105;1112;1112;1086	ENSP00000440392:F1109S;ENSP00000440542:F1105S;ENSP00000312419:F1112S;ENSP00000349508:F1112S	ENSP00000312419:F1112S	F	-	2	0	CHD4	6570898	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.117000	0.94347	1.951000	0.56629	0.533000	0.62120	TTC		0.428	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		47	17	0	0	0	1	0	47	17				
CMYA5	202333	broad.mit.edu	37	5	79025483	79025483	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr5:79025483G>T	ENST00000446378.2	+	2	926	c.895G>T	c.(895-897)Gtt>Ttt	p.V299F		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	299					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGTAAAAGAGGTTTTTCCACC	0.408																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(895-897)Gtt>Ttt		cardiomyopathy associated 5							79.0	72.0	74.0					5																	79025483		1874	4105	5979	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79025483G>T	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.895G>T	5.37:g.79025483G>T	ENSP00000394770:p.Val299Phe						p.V299F	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	926	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	299					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.895G>T	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	5.548	0.286042	0.10513	.	.	ENSG00000164309	ENST00000446378	T	0.38887	1.11	5.79	0.586	0.17434	.	1.046890	0.07554	N	0.915946	T	0.20088	0.0483	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.23547	-1.0185	10	0.56958	D	0.05	.	1.2709	0.02021	0.2443:0.4108:0.1277:0.2172	.	299	Q8N3K9	CMYA5_HUMAN	F	299	ENSP00000394770:V299F	ENSP00000394770:V299F	V	+	1	0	CMYA5	79061239	0.000000	0.05858	0.018000	0.16275	0.168000	0.22595	-0.526000	0.06207	0.063000	0.16370	-0.165000	0.13383	GTT		0.408	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		16	44	1	0	0.0438628	1	0.0442544	16	44				
PIK3CA	5290	broad.mit.edu	37	3	178916930	178916930	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr3:178916930G>T	ENST00000263967.3	+	2	474	c.317G>T	c.(316-318)gGc>gTc	p.G106V		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	106			G -> V (in CRC; likely involved in disease pathogenesis; shows an increase in lipid kinase activity).		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.G106V(6)|p.G106_R108delGNR(2)|p.G106_R108del(2)|p.G106A(1)|p.E103_G106>D(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GAACCAGTAGGCAACCGTGAA	0.348		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		12	Substitution - Missense(7)|Deletion - In frame(4)|Complex - deletion inframe(1)	p.G106V(6)|p.G106_R108delGNR(2)|p.G106_R108del(2)|p.G106A(1)|p.E103_G106>D(1)	lung(4)|large_intestine(3)|breast(3)|endometrium(2)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(316-318)gGc>gTc		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							90.0	86.0	87.0					3																	178916930		1825	4072	5897	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916930G>T		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.317G>T	3.37:g.178916930G>T	ENSP00000263967:p.Gly106Val	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.G106V	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		2	474	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		106		G -> V (in cancer; shows an increase in lipid kinase activity).	PI3K-ABD.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.317G>T	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216426	0.79352	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.74421	0.67;-0.84	5.52	5.52	0.82312	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.86928	0.6051	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86624	0.1881	9	.	.	.	-7.432	19.4271	0.94746	0.0:0.0:1.0:0.0	.	106	P42336	PK3CA_HUMAN	V	106	ENSP00000263967:G106V;ENSP00000417479:G106V	.	G	+	2	0	PIK3CA	180399624	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.563000	0.82314	2.584000	0.87258	0.555000	0.69702	GGC		0.348	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			33	11	1	0	1.26612e-14	1	1.40266e-14	33	11				
CD247	919	broad.mit.edu	37	1	167400923	167400923	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr1:167400923G>A	ENST00000362089.5	-	8	562	c.490C>T	c.(490-492)Cgc>Tgc	p.R164C	CD247_ENST00000483825.1_5'UTR|CD247_ENST00000392122.3_Missense_Mutation_p.R163C			P20963	CD3Z_HUMAN	CD247 molecule	164					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	alpha-beta T cell receptor complex (GO:0042105)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(543;0.236)		Muromonab(DB00075)	GGCTGTTAGCGAGGGGGCAGG	0.537																																					Ovarian(192;1815 2869 36877 43334)	ENST00000392122.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6						c.(487-489)Cgc>Tgc		CD247 molecule							159.0	150.0	153.0					1																	167400923		2203	4300	6503	SO:0001583	missense	919				interspecies interaction between organisms|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytoplasm|integral to membrane	protein homodimerization activity|transmembrane receptor activity	g.chr1:167400923G>A	BC025703	CCDS1260.1, CCDS1261.1	1q24.2	2014-09-17	2006-03-28	2006-03-09	ENSG00000198821	ENSG00000198821		"""CD molecules"""	1677	protein-coding gene	gene with protein product		186780	"""CD3z antigen, zeta polypeptide (TiT3 complex)"", ""CD247 antigen"""	CD3Z		2974162	Standard	NM_198053		Approved	CD3H, CD3Q	uc001gei.4	P20963	OTTHUMG00000034593	ENST00000362089.5:c.490C>T	1.37:g.167400923G>A	ENSP00000354782:p.Arg164Cys					CD247_ENST00000362089.5_Missense_Mutation_p.R164C|CD247_ENST00000483825.1_5'UTR	p.R163C	NM_000734.3|NM_198053.2	NP_000725.1|NP_932170.1	P20963	CD3Z_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.236)		8	631	-			164					B1AK49|Q5VX13|Q8TAX4	Missense_Mutation	SNP	ENST00000362089.5	37	c.487C>T	CCDS1261.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678846	0.88542	.	.	ENSG00000198821	ENST00000392122;ENST00000362089	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	T	0.69753	0.3146	L	0.48642	1.525	0.30974	N	0.7227589999999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.72880	-0.4158	7	0.87932	D	0	.	17.5362	0.87832	0.0:0.0:1.0:0.0	.	163;164	P20963-3;P20963	.;CD3Z_HUMAN	C	163;164	.	ENSP00000354782:R164C	R	-	1	0	CD247	165667547	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.851000	0.75425	2.608000	0.88229	0.655000	0.94253	CGC		0.537	CD247-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083707.1	NM_198053		16	93	0	0	0	1	0	16	93				
DSCR3	10311	broad.mit.edu	37	21	38600596	38600596	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr21:38600596C>T	ENST00000309117.6	-	6	823	c.586G>A	c.(586-588)Gag>Aag	p.E196K	AP001432.14_ENST00000440629.1_lincRNA|DSCR3_ENST00000476950.1_Missense_Mutation_p.E169K|DSCR3_ENST00000398998.1_Missense_Mutation_p.E148K|DSCR3_ENST00000539844.1_Missense_Mutation_p.E119K|DSCR3_ENST00000399000.3_5'UTR|DSCR3_ENST00000288304.5_Missense_Mutation_p.R153K|DSCR3_ENST00000399001.1_Missense_Mutation_p.E71K	NM_006052.1	NP_006043.1	O14972	DSCR3_HUMAN	Down syndrome critical region gene 3	196						nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						ACCACCAGCTCTCCCGTTAGT	0.557																																						ENST00000288304.5																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						c.(457-459)aGa>aAa		Down syndrome critical region gene 3							72.0	68.0	70.0					21																	38600596		2203	4300	6503	SO:0001583	missense	10311				vacuolar transport	nucleus|retromer complex		g.chr21:38600596C>T	D87343	CCDS33553.1	21q22.2	2008-05-22			ENSG00000157538	ENSG00000157538			3044	protein-coding gene	gene with protein product		605298				9399594	Standard	NM_006052		Approved	DCRA	uc002ywf.1	O14972	OTTHUMG00000086659	ENST00000309117.6:c.586G>A	21.37:g.38600596C>T	ENSP00000311399:p.Glu196Lys					DSCR3_ENST00000476950.1_Missense_Mutation_p.E169K|AP001432.14_ENST00000440629.1_lincRNA|DSCR3_ENST00000398998.1_Missense_Mutation_p.E148K|DSCR3_ENST00000399000.3_5'UTR|DSCR3_ENST00000399001.1_Missense_Mutation_p.E71K|DSCR3_ENST00000309117.6_Missense_Mutation_p.E196K|DSCR3_ENST00000539844.1_Missense_Mutation_p.E119K	p.R153K			O14972	DSCR3_HUMAN			7	1250	-			188					B2R6T8|B7Z6B1|D3DSH4|Q2TAY6	Missense_Mutation	SNP	ENST00000309117.6	37	c.458G>A	CCDS33553.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.29|13.29	2.194288|2.194288	0.38806|0.38806	.|.	.|.	ENSG00000157538|ENSG00000157538	ENST00000309117;ENST00000539844;ENST00000399001;ENST00000476950;ENST00000398998|ENST00000471543;ENST00000288304	.|.	.|.	.|.	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71074|0.71074	0.3297|0.3297	M|M	0.83692|0.83692	2.655|2.655	0.33116|0.33116	D|D	0.541162|0.541162	P;D;B;B|.	0.56746|.	0.951;0.977;0.394;0.364|.	P;P;B;B|.	0.61003|.	0.801;0.882;0.329;0.188|.	T|T	0.72491|0.72491	-0.4277|-0.4277	8|6	.|0.09338	.|T	.|0.73	-40.6351|-40.6351	19.3643|19.3643	0.94456|0.94456	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	71;119;169;196|.	A8MY26;B7Z606;B7Z6B1;O14972|.	.;.;.;DSCR3_HUMAN|.	K|K	196;119;71;169;148|1;153	.|.	.|ENSP00000288304:R153K	E|R	-|-	1|2	0|0	DSCR3|DSCR3	37522466|37522466	0.999000|0.999000	0.42202|0.42202	0.960000|0.960000	0.40013|0.40013	0.711000|0.711000	0.40976|0.40976	4.034000|4.034000	0.57289|0.57289	2.659000|2.659000	0.90383|0.90383	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.557	DSCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194807.1			25	47	0	0	0	1	0	25	47				
NUP205	23165	broad.mit.edu	37	7	135323338	135323338	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr7:135323338C>T	ENST00000285968.6	+	38	5325	c.5299C>T	c.(5299-5301)Ctc>Ttc	p.L1767F		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1767					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TTGCCAGTCACTCATGTTACA	0.408																																						ENST00000285968.6																			0				breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(5299-5301)Ctc>Ttc		nucleoporin 205kDa							210.0	196.0	201.0					7																	135323338		2203	4300	6503	SO:0001583	missense	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135323338C>T	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.5299C>T	7.37:g.135323338C>T	ENSP00000285968:p.Leu1767Phe						p.L1767F	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN			38	5325	+			1767					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.5299C>T	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.459148	0.43634	.	.	ENSG00000155561	ENST00000285968	T	0.35605	1.3	5.26	4.37	0.52481	.	0.057522	0.64402	N	0.000001	T	0.24198	0.0586	N	0.17082	0.46	0.80722	D	1	B	0.11235	0.004	B	0.14578	0.011	T	0.03193	-1.1062	10	0.39692	T	0.17	-6.8431	12.9686	0.58499	0.0:0.9203:0.0:0.0797	.	1767	Q92621	NU205_HUMAN	F	1767	ENSP00000285968:L1767F	ENSP00000285968:L1767F	L	+	1	0	NUP205	134973878	0.998000	0.40836	0.446000	0.26920	0.943000	0.58893	4.026000	0.57232	1.186000	0.42985	0.460000	0.39030	CTC		0.408	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			37	94	0	0	0	1	0	37	94				
PCDHA2	56146	broad.mit.edu	37	5	140176607	140176607	+	Silent	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr5:140176607C>T	ENST00000526136.1	+	1	2058	c.2058C>T	c.(2056-2058)gcC>gcT	p.A686A	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Silent_p.A686A|PCDHA2_ENST00000520672.2_Silent_p.A686A	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	686					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGTGGGCGCCGCGGGCTCAG	0.642																																						ENST00000526136.1																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(2056-2058)gcC>gcT									73.0	76.0	75.0					5																	140176607		2203	4298	6501	SO:0001819	synonymous_variant	0							g.chr5:140176607C>T	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.2058C>T	5.37:g.140176607C>T						PCDHA2_ENST00000378132.1_Silent_p.A686A|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Silent_p.A686A	p.A686A	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2058	+								O75287|Q9BTV3	Silent	SNP	ENST00000526136.1	37	c.2058C>T	CCDS54914.1																																																																																				0.642	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		66	113	0	0	0	1	0	66	113				
DSCR10	259234	broad.mit.edu	37	21	39580563	39580563	+	lincRNA	SNP	C	C	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr21:39580563C>A	ENST00000432141.1	+	0	685					NR_027695.1		P59022	DSC10_HUMAN	Down syndrome critical region gene 10 (non-protein coding)																		GAAGGAAAACCTTTATTTTGG	0.398																																						ENST00000432141.1																			0																				192.0	194.0	193.0					21																	39580563		2203	4300	6503			0							g.chr21:39580563C>A	AB066291		21q22.13	2012-10-16	2011-02-24		ENSG00000233316	ENSG00000233316		"""Long non-coding RNAs"""	16302	non-coding RNA	RNA, long non-coding			"""Down syndrome critical region gene 10"""			12168953	Standard	NR_027695		Approved		uc010gnt.2	P59022	OTTHUMG00000090611		21.37:g.39580563C>A								NR_027695.1						0	685	+								Q52LN2	RNA	SNP	ENST00000432141.1	37																																																																																						0.398	DSCR10-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000207199.1	NR_027695.1		80	109	1	0	9.59377e-39	1	1.10622e-38	80	109				
INTS1	26173	broad.mit.edu	37	7	1527374	1527374	+	Intron	SNP	C	C	T	rs531989272	byFrequency	TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr7:1527374C>T	ENST00000404767.3	-	19	2602				INTS1_ENST00000389470.4_Silent_p.P974P	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1						inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		AGGCGCAGGGCGGGGCTGTGT	0.687													C|||	2	0.000399361	0.0015	0.0	5008	,	,		15579	0.0		0.0	False		,,,				2504	0.0					ENST00000389470.4																			0				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62						c.(2920-2922)ccG>ccA		integrator complex subunit 1							28.0	40.0	36.0					7																	1527374		2100	4223	6323	SO:0001627	intron_variant	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1527374C>T	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.2516+21G>A	7.37:g.1527374C>T						INTS1_ENST00000404767.3_Intron	p.P974P			Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	20	2921	-		Ovarian(82;0.0253)	839					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Silent	SNP	ENST00000404767.3	37	c.2922G>A	CCDS47526.1																																																																																				0.687	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			15	9	0	0	0	1	0	15	9				
RAB39B	116442	broad.mit.edu	37	X	154490295	154490295	+	Silent	SNP	G	G	A	rs376181426		TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chrX:154490295G>A	ENST00000369454.3	-	2	735	c.435C>T	c.(433-435)taC>taT	p.Y145Y		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	145					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|synapse organization (GO:0050808)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTP binding (GO:0005525)|myosin V binding (GO:0031489)			breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACTTCATGCCGTATGCAGCAG	0.498																																						ENST00000369454.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19						c.(433-435)taC>taT		RAB39B, member RAS oncogene family		G		1,3834		0,1,1631,571	113.0	94.0	100.0		435	0.3	1.0	X		100	0,6728		0,0,2428,1872	no	coding-synonymous	RAB39B	NM_171998.2		0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095		145/214	154490295	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	116442				protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding	g.chrX:154490295G>A	AY052478	CCDS14766.1	Xq28	2014-01-31			ENSG00000155961	ENSG00000155961		"""RAB, member RAS oncogene"""	16499	protein-coding gene	gene with protein product		300774	"""mental retardation, X-linked 72"""	MRX72		12438742, 20159109	Standard	NM_171998		Approved		uc004fne.3	Q96DA2	OTTHUMG00000022659	ENST00000369454.3:c.435C>T	X.37:g.154490295G>A							p.Y145Y	NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN			2	735	-	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		145					Q5JT79|Q8NEX3	Silent	SNP	ENST00000369454.3	37	c.435C>T	CCDS14766.1																																																																																				0.498	RAB39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058792.1	NM_171998		52	64	0	0	0	1	0	52	64				
ADCY9	115	broad.mit.edu	37	16	4165230	4165230	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr16:4165230G>A	ENST00000294016.3	-	2	752	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	72					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTGCGCAGCCGGCCTCCGCCG	0.677																																						ENST00000294016.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(214-216)Cgg>Tgg		adenylate cyclase 9							33.0	32.0	33.0					16																	4165230		2195	4299	6494	SO:0001583	missense	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4165230G>A	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.214C>T	16.37:g.4165230G>A	ENSP00000294016:p.Arg72Trp						p.R72W	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN			2	752	-			72					A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.214C>T	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.940811	0.52972	.	.	ENSG00000162104	ENST00000294016	T	0.28454	1.61	5.04	5.04	0.67666	.	0.300136	0.36002	N	0.002849	T	0.20700	0.0498	N	0.22421	0.69	0.33452	D	0.583793	D	0.59357	0.985	B	0.40534	0.332	T	0.33599	-0.9862	10	0.62326	D	0.03	.	11.557	0.50755	0.0845:0.0:0.9155:0.0	.	72	O60503	ADCY9_HUMAN	W	72	ENSP00000294016:R72W	ENSP00000294016:R72W	R	-	1	2	ADCY9	4105231	1.000000	0.71417	0.977000	0.42913	0.811000	0.45836	3.946000	0.56644	2.355000	0.79922	0.456000	0.33151	CGG		0.677	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			7	19	0	0	0	1	0	7	19				
ELAVL2	1993	broad.mit.edu	37	9	23762158	23762158	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr9:23762158A>C	ENST00000397312.2	-	2	349	c.75T>G	c.(73-75)tgT>tgG	p.C25W	ELAVL2_ENST00000380117.1_Missense_Mutation_p.C25W|ELAVL2_ENST00000462649.1_5'Flank|ELAVL2_ENST00000380110.4_Missense_Mutation_p.C54W|ELAVL2_ENST00000544538.1_Missense_Mutation_p.C25W|ELAVL2_ENST00000223951.6_Missense_Mutation_p.C25W	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	25					regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		CTGGTGACGAACAGTTGTTGT	0.438																																						ENST00000397312.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39						c.(73-75)tgT>tgG		ELAV like neuron-specific RNA binding protein 2							334.0	306.0	315.0					9																	23762158		2203	4300	6503	SO:0001583	missense	1993				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	g.chr9:23762158A>C	BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"""RNA binding motif (RRM) containing"""	3313	protein-coding gene	gene with protein product	"""Hu antigen B"""	601673	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"""			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.75T>G	9.37:g.23762158A>C	ENSP00000380479:p.Cys25Trp					ELAVL2_ENST00000223951.6_Missense_Mutation_p.C25W|ELAVL2_ENST00000380117.1_Missense_Mutation_p.C25W|ELAVL2_ENST00000380110.4_Missense_Mutation_p.C54W|ELAVL2_ENST00000544538.1_Missense_Mutation_p.C25W	p.C25W	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN		GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)	2	349	-			25					D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Missense_Mutation	SNP	ENST00000397312.2	37	c.75T>G	CCDS6515.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360073	0.61403	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598;ENST00000440102	T;T;T;T;T	0.14022	2.54;2.96;2.96;2.96;2.87	5.92	4.09	0.47781	.	0.000000	0.85682	D	0.000000	T	0.19005	0.0456	N	0.19112	0.55	0.80722	D	1	P;D	0.76494	0.779;0.999	P;D	0.68765	0.447;0.96	T	0.01993	-1.1233	10	0.39692	T	0.17	.	9.2528	0.37564	0.2716:0.0:0.7284:0.0	.	25;25	Q12926;Q12926-2	ELAV2_HUMAN;.	W	25;25;25;25;25;53;25	ENSP00000223951:C25W;ENSP00000380479:C25W;ENSP00000440998:C25W;ENSP00000369460:C25W;ENSP00000412602:C25W	ENSP00000223951:C25W	C	-	3	2	ELAVL2	23752158	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	3.425000	0.52771	0.423000	0.26033	-0.197000	0.12766	TGT		0.438	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432		8	180	0	0	0	1	0	8	180				
GPAM	57678	broad.mit.edu	37	10	113928673	113928673	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr10:113928673G>A	ENST00000348367.4	-	10	1029	c.832C>T	c.(832-834)Cga>Tga	p.R278*	GPAM_ENST00000369425.1_Nonsense_Mutation_p.R278*|GPAM_ENST00000423155.1_Nonsense_Mutation_p.R278*			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	278					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		TCGAGCCTTCGTCGTATGAAG	0.378																																					Ovarian(161;1017 2606 18293 52943)	ENST00000348367.4																			0				breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(832-834)Cga>Tga		glycerol-3-phosphate acyltransferase, mitochondrial							119.0	114.0	116.0					10																	113928673		2203	4300	6503	SO:0001587	stop_gained	57678				phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr10:113928673G>A	AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"""glycerol-3-phosphate acyltransferase 1, mitochondrial"""	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.832C>T	10.37:g.113928673G>A	ENSP00000265276:p.Arg278*					GPAM_ENST00000369425.1_Nonsense_Mutation_p.R278*|GPAM_ENST00000423155.1_Nonsense_Mutation_p.R278*	p.R278*			Q9HCL2	GPAT1_HUMAN		Epithelial(162;0.0306)|all cancers(201;0.123)	10	1029	-			278					Q5VW51|Q86TA3	Nonsense_Mutation	SNP	ENST00000348367.4	37	c.832C>T	CCDS7570.1	.	.	.	.	.	.	.	.	.	.	G	39	7.441009	0.98286	.	.	ENSG00000119927	ENST00000348367;ENST00000423155;ENST00000369425	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.0312	10.9864	0.47525	0.0:0.1376:0.7202:0.1423	.	.	.	.	X	278	.	ENSP00000265276:R278X	R	-	1	2	GPAM	113918663	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	2.890000	0.48609	2.620000	0.88729	0.643000	0.83706	CGA		0.378	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1	NM_020918		32	16	0	0	0	1	0	32	16				
DARS2	55157	broad.mit.edu	37	1	173810047	173810047	+	Missense_Mutation	SNP	T	T	G			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr1:173810047T>G	ENST00000361951.4	+	11	1791	c.1064T>G	c.(1063-1065)tTt>tGt	p.F355C	DARS2_ENST00000239457.5_5'UTR	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	355					gene expression (GO:0010467)|mitochondrial asparaginyl-tRNA aminoacylation (GO:0070145)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aspartate-tRNA ligase activity (GO:0004815)|aspartate-tRNA(Asn) ligase activity (GO:0050560)|ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	GAGATTGGATTTCTTCAAGAT	0.338																																						ENST00000361951.4																			0				breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30						c.(1063-1065)tTt>tGt		aspartyl-tRNA synthetase 2, mitochondrial	L-Aspartic Acid(DB00128)						123.0	118.0	120.0					1																	173810047		2203	4300	6503	SO:0001583	missense	55157				tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding	g.chr1:173810047T>G	AK022754	CCDS1311.1	1q25.1	2011-07-01	2007-02-23		ENSG00000117593	ENSG00000117593	6.1.1.12	"""Aminoacyl tRNA synthetases / Class II"""	25538	protein-coding gene	gene with protein product	"""aspartate tRNA ligase 2, mitochondrial"""	610956				15779907	Standard	NM_018122		Approved	FLJ10514	uc001gjh.2	Q6PI48	OTTHUMG00000034803	ENST00000361951.4:c.1064T>G	1.37:g.173810047T>G	ENSP00000355086:p.Phe355Cys					DARS2_ENST00000239457.5_5'UTR	p.F355C	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN			11	1791	+			355						Missense_Mutation	SNP	ENST00000361951.4	37	c.1064T>G	CCDS1311.1	.	.	.	.	.	.	.	.	.	.	T	18.92	3.724909	0.68959	.	.	ENSG00000117593	ENST00000361951	D	0.85411	-1.98	5.47	5.47	0.80525	Aminoacyl-tRNA synthetase, class II (1);GAD domain (2);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.146879	0.64402	D	0.000006	D	0.85847	0.5792	M	0.71581	2.175	0.80722	D	1	D	0.63046	0.992	P	0.56127	0.792	D	0.88231	0.2903	10	0.87932	D	0	-10.0738	9.8918	0.41294	0.1524:0.0:0.0:0.8476	.	355	Q6PI48	SYDM_HUMAN	C	355	ENSP00000355086:F355C	ENSP00000355086:F355C	F	+	2	0	DARS2	172076670	1.000000	0.71417	0.941000	0.38009	0.980000	0.70556	4.391000	0.59652	2.090000	0.63153	0.477000	0.44152	TTT		0.338	DARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084220.1	NM_018122		11	47	0	0	0	1	0	11	47				
NOB1	28987	broad.mit.edu	37	16	69778900	69778900	+	Missense_Mutation	SNP	C	C	T	rs373158111		TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr16:69778900C>T	ENST00000268802.5	-	8	874	c.845G>A	c.(844-846)cGa>cAa	p.R282Q	CTD-2033A16.3_ENST00000575838.1_RNA	NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	282					visual perception (GO:0007601)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCAGAACACTCGGCTCATGTC	0.577																																						ENST00000268802.5																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(844-846)cGa>cAa		NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)		C	GLN/ARG	1,4395	2.1+/-5.4	0,1,2197	85.0	65.0	72.0		845	4.5	1.0	16		72	0,8600		0,0,4300	no	missense	NOB1	NM_014062.1	43	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	282/413	69778900	1,12995	2198	4300	6498	SO:0001583	missense	28987					nucleus	metal ion binding|protein binding	g.chr16:69778900C>T	AB026125	CCDS10884.1	16q22.1	2008-02-05	2006-04-20	2006-04-20	ENSG00000141101	ENSG00000141101			29540	protein-coding gene	gene with protein product	"""nin one binding protein"""	613586	"""PSMD8 binding protein 1"""	PSMD8BP1		16172919	Standard	NM_014062		Approved	NOB1P, ART-4, MST158	uc002exs.4	Q9ULX3	OTTHUMG00000137576	ENST00000268802.5:c.845G>A	16.37:g.69778900C>T	ENSP00000268802:p.Arg282Gln						p.R282Q	NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN			8	874	-			282					Q7L6B7|Q7M4M4|Q7Z4B5|Q9NWB0	Missense_Mutation	SNP	ENST00000268802.5	37	c.845G>A	CCDS10884.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.927292	0.73327	2.27E-4	0.0	ENSG00000141101	ENST00000268802	T	0.32988	1.43	5.5	4.54	0.55810	Nin one binding (NOB1) Zn-ribbon-like (1);	0.052907	0.64402	D	0.000001	T	0.41834	0.1176	M	0.77406	2.37	0.38305	D	0.943083	D	0.59357	0.985	P	0.51229	0.663	T	0.45731	-0.9241	9	.	.	.	.	8.3321	0.32193	0.0:0.7866:0.0:0.2134	.	282	Q9ULX3	NOB1_HUMAN	Q	282	ENSP00000268802:R282Q	.	R	-	2	0	NOB1	68336401	0.969000	0.33509	1.000000	0.80357	0.241000	0.25554	1.832000	0.39151	2.735000	0.93741	0.655000	0.94253	CGA		0.577	NOB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268958.2	NM_014062		8	27	0	0	0	1	0	8	27				
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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"""		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(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	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)cGg>cAg	Other conserved DNA damage response genes	tumor protein p53		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152.0	112.0	126.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1.0	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	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.chr17:7577538C>T	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.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	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_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q	p.R248Q	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)	7	875	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		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.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		42	8	0	0	0	1	0	42	8				
ZNF493	284443	broad.mit.edu	37	19	21606597	21606597	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr19:21606597G>A	ENST00000355504.4	+	2	1018	c.752G>A	c.(751-753)tGt>tAt	p.C251Y	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.C379Y	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	251					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						CCCTACAAATGTGAAGAATGT	0.368																																						ENST00000392288.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(1135-1137)tGt>tAt		zinc finger protein 493							42.0	46.0	45.0					19																	21606597		2194	4297	6491	SO:0001583	missense	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21606597G>A	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.752G>A	19.37:g.21606597G>A	ENSP00000347691:p.Cys251Tyr					ZNF493_ENST00000355504.4_Missense_Mutation_p.C251Y|CTD-2561J22.3_ENST00000600810.1_Intron	p.C379Y	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN			4	1245	+			251					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	c.1136G>A	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	11.48	1.650427	0.29336	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	D;D	0.85088	-1.94;-1.94	0.966	0.966	0.19667	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.92760	0.7698	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.993	D	0.91470	0.5196	9	0.87932	D	0	.	8.7434	0.34571	0.0:0.0:1.0:0.0	.	251;379	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	Y	379;251	ENSP00000376110:C379Y;ENSP00000347691:C251Y	ENSP00000347691:C251Y	C	+	2	0	ZNF493	21398437	0.922000	0.31269	0.472000	0.27241	0.464000	0.32679	2.943000	0.49026	0.393000	0.25203	0.399000	0.26434	TGT		0.368	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		6	44	0	0	0	1	0	6	44				
RSPH6A	81492	broad.mit.edu	37	19	46314094	46314094	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr19:46314094C>T	ENST00000221538.3	-	2	797	c.655G>A	c.(655-657)Gag>Aag	p.E219K	RSPH6A_ENST00000597055.1_Missense_Mutation_p.E219K|RSPH6A_ENST00000600188.1_5'UTR	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	219						intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						ACCAGGTGCTCGTACCTGCCT	0.627																																						ENST00000221538.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						c.(655-657)Gag>Aag		radial spoke head 6 homolog A (Chlamydomonas)							30.0	30.0	30.0					19																	46314094		2203	4300	6503	SO:0001583	missense	81492					intracellular		g.chr19:46314094C>T	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.655G>A	19.37:g.46314094C>T	ENSP00000221538:p.Glu219Lys					RSPH6A_ENST00000597055.1_Missense_Mutation_p.E219K|RSPH6A_ENST00000600188.1_5'UTR	p.E219K	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN			2	797	-			219					Q53FE2|Q6PEZ9	Missense_Mutation	SNP	ENST00000221538.3	37	c.655G>A	CCDS12675.1	.	.	.	.	.	.	.	.	.	.	C	31	5.062405	0.93898	.	.	ENSG00000104941	ENST00000221538	T	0.17528	2.27	4.82	4.82	0.62117	.	0.104079	0.64402	D	0.000005	T	0.36413	0.0966	L	0.58583	1.82	0.46609	D	0.999122	D	0.76494	0.999	D	0.64877	0.93	T	0.03728	-1.1009	10	0.59425	D	0.04	-9.7378	15.8574	0.78989	0.0:1.0:0.0:0.0	.	219	Q9H0K4	RSH6A_HUMAN	K	219	ENSP00000221538:E219K	ENSP00000221538:E219K	E	-	1	0	RSPH6A	51005934	0.999000	0.42202	0.855000	0.33649	0.935000	0.57460	4.664000	0.61540	2.689000	0.91719	0.650000	0.86243	GAG		0.627	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			7	14	0	0	0	1	0	7	14				
DHCR7	1717	broad.mit.edu	37	11	71146794	71146794	+	Missense_Mutation	SNP	C	C	A	rs121909768		TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr11:71146794C>A	ENST00000355527.3	-	9	1331	c.1055G>T	c.(1054-1056)cGg>cTg	p.R352L	DHCR7_ENST00000407721.2_Missense_Mutation_p.R352L	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	352			R -> Q (in SLOS). {ECO:0000269|PubMed:10677299}.|R -> W (in SLOS). {ECO:0000269|PubMed:10677299, ECO:0000269|PubMed:11175299, ECO:0000269|PubMed:9653161}.		blood vessel development (GO:0001568)|cell differentiation (GO:0030154)|cholesterol biosynthetic process (GO:0006695)|lung development (GO:0030324)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|regulation of cholesterol biosynthetic process (GO:0045540)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear outer membrane (GO:0005640)	7-dehydrocholesterol reductase activity (GO:0047598)			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						GTTGGCCACCCGGAAGATGTA	0.667									Smith-Lemli-Opitz syndrome																													ENST00000355527.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19	GRCh37	CM000688	DHCR7	M	rs121909768	c.(1054-1056)cGg>cTg		7-dehydrocholesterol reductase	NADH(DB00157)						37.0	36.0	37.0					11																	71146794		2200	4294	6494	SO:0001583	missense	1717	Smith-Lemli-Opitz syndrome	Familial Cancer Database	SLOS type I & II	cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding	g.chr11:71146794C>A	AF034544	CCDS8200.1	11q13.4	2014-09-17	2004-02-13				1.3.1.21		2860	protein-coding gene	gene with protein product		602858	"""Smith-Lemli-Opitz syndrome"""	SLOS		9465114, 9634533	Standard	NM_001360		Approved		uc001oql.3	Q9UBM7		ENST00000355527.3:c.1055G>T	11.37:g.71146794C>A	ENSP00000347717:p.Arg352Leu					DHCR7_ENST00000407721.2_Missense_Mutation_p.R352L	p.R352L	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN			9	1331	-			352		R -> Q (in SLOS).|R -> W (in SLOS).			B2R6Z2|O60492|O60717	Missense_Mutation	SNP	ENST00000355527.3	37	c.1055G>T	CCDS8200.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.42|14.42	2.530595|2.530595	0.45073|0.45073	.|.	.|.	ENSG00000172893|ENSG00000172893	ENST00000525137|ENST00000407721;ENST00000355527;ENST00000533800	D|D;D;D	0.99541|0.98164	-6.12|-4.76;-4.76;-4.76	5.08|5.08	5.08|5.08	0.68730|0.68730	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99230|0.99230	0.9732|0.9732	H|H	0.94658|0.94658	3.565|3.565	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.85130	.|0.997	D|D	0.99047|0.99047	1.0826|1.0826	7|10	0.87932|0.72032	D|D	0|0.01	-44.2018|-44.2018	15.9428|15.9428	0.79771|0.79771	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|352	.|Q9UBM7	.|DHCR7_HUMAN	W|L	186|352;352;102	ENSP00000435956:G186W|ENSP00000384739:R352L;ENSP00000347717:R352L;ENSP00000435011:R102L	ENSP00000435956:G186W|ENSP00000347717:R352L	G|R	-|-	1|2	0|0	DHCR7|DHCR7	70824442|70824442	1.000000|1.000000	0.71417|0.71417	0.950000|0.950000	0.38849|0.38849	0.974000|0.974000	0.67602|0.67602	6.807000|6.807000	0.75201|0.75201	2.363000|2.363000	0.80096|0.80096	0.561000|0.561000	0.74099|0.74099	GGG|CGG		0.667	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394243.1	NM_001360		3	38	1	0	0.115264	1	0.115264	3	38				
ESF1	51575	broad.mit.edu	37	20	13763375	13763375	+	Nonsense_Mutation	SNP	T	T	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr20:13763375T>A	ENST00000202816.1	-	2	519	c.412A>T	c.(412-414)Aaa>Taa	p.K138*	NDUFAF5_ENST00000378106.5_5'Flank|NDUFAF5_ENST00000463598.1_5'Flank	NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	138	Lys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TTCATTTTTTTAATTCCTATA	0.259																																						ENST00000202816.1																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						c.(412-414)Aaa>Taa		ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)							32.0	34.0	33.0					20																	13763375		2182	4271	6453	SO:0001587	stop_gained	51575				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm		g.chr20:13763375T>A		CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 6"""	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.412A>T	20.37:g.13763375T>A	ENSP00000202816:p.Lys138*						p.K138*	NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN			2	519	-			138			Lys-rich.		Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Nonsense_Mutation	SNP	ENST00000202816.1	37	c.412A>T	CCDS13117.1	.	.	.	.	.	.	.	.	.	.	T	18.25	3.583304	0.65992	.	.	ENSG00000089048	ENST00000202816	.	.	.	4.96	-1.6	0.08426	.	1.605880	0.03301	N	0.189052	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	7.4703	0.27344	0.1137:0.0:0.1568:0.7295	.	.	.	.	X	138	.	ENSP00000202816:K138X	K	-	1	0	ESF1	13711375	0.004000	0.15560	0.706000	0.30403	0.274000	0.26718	-0.021000	0.12504	0.077000	0.16863	-0.452000	0.05504	AAA		0.259	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	NM_016649		7	21	0	0	0	1	0	7	21				
SEMA5A	9037	broad.mit.edu	37	5	9202131	9202131	+	Missense_Mutation	SNP	C	C	T	rs368799668		TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr5:9202131C>T	ENST00000382496.5	-	9	1533	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	290	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)	p.E290K(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CTCTGCAATTCGTTGTAGTAA	0.478																																						ENST00000382496.5																			1	Substitution - Missense(1)	p.E290K(1)	skin(1)	biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						c.(868-870)Gaa>Aaa		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A		C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	74.0	71.0	72.0		868	5.8	0.9	5		72	0,8600		0,0,4300	no	missense	SEMA5A	NM_003966.2	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	290/1075	9202131	1,13005	2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9202131C>T	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.868G>A	5.37:g.9202131C>T	ENSP00000371936:p.Glu290Lys						p.E290K	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN			9	1533	-			290			Sema.		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.868G>A	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	C	34	5.365314	0.95877	2.27E-4	0.0	ENSG00000112902	ENST00000382496	T	0.13196	2.61	5.84	5.84	0.93424	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.29028	0.0721	M	0.84156	2.68	0.80722	D	1	P	0.34522	0.455	B	0.40565	0.333	T	0.02567	-1.1140	10	0.59425	D	0.04	.	17.6206	0.88080	0.0:1.0:0.0:0.0	.	290	Q13591	SEM5A_HUMAN	K	290	ENSP00000371936:E290K	ENSP00000371936:E290K	E	-	1	0	SEMA5A	9255131	1.000000	0.71417	0.925000	0.36789	0.879000	0.50718	7.290000	0.78711	2.760000	0.94817	0.655000	0.94253	GAA		0.478	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			20	40	0	0	0	1	0	20	40				
DDX51	317781	broad.mit.edu	37	12	132625180	132625180	+	Missense_Mutation	SNP	C	C	T	rs370006300		TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr12:132625180C>T	ENST00000397333.3	-	10	1579	c.1541G>A	c.(1540-1542)cGa>cAa	p.R514Q		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	514	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		GGAGTTCTCTCGGGAGTTAGT	0.642																																						ENST00000397333.3																			0				endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(1540-1542)cGa>cAa		DEAD (Asp-Glu-Ala-Asp) box polypeptide 51		C	GLN/ARG	1,3965		0,1,1982	47.0	54.0	52.0		1541	5.0	0.9	12		52	0,8298		0,0,4149	no	missense	DDX51	NM_175066.3	43	0,1,6131	TT,TC,CC		0.0,0.0252,0.0082	probably-damaging	514/667	132625180	1,12263	1983	4149	6132	SO:0001583	missense	317781				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr12:132625180C>T	BC040185	CCDS41865.1	12q24.33	2005-10-12				ENSG00000185163		"""DEAD-boxes"""	20082	protein-coding gene	gene with protein product							Standard	NM_175066		Approved		uc001ujy.4	Q8N8A6		ENST00000397333.3:c.1541G>A	12.37:g.132625180C>T	ENSP00000380495:p.Arg514Gln						p.R514Q	NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)	10	1579	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)	514			Helicase C-terminal.		A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	Missense_Mutation	SNP	ENST00000397333.3	37	c.1541G>A	CCDS41865.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.119112	0.77323	2.52E-4	0.0	ENSG00000185163	ENST00000397333	T	0.06142	3.34	5.02	5.02	0.67125	Helicase, C-terminal (1);	0.051758	0.85682	D	0.000000	T	0.06234	0.0161	N	0.22421	0.69	0.53688	D	0.999973	P	0.51653	0.947	B	0.41440	0.357	T	0.39482	-0.9612	10	0.49607	T	0.09	-17.5505	15.8652	0.79060	0.0:1.0:0.0:0.0	.	514	Q8N8A6	DDX51_HUMAN	Q	514	ENSP00000380495:R514Q	ENSP00000380495:R514Q	R	-	2	0	DDX51	131191133	0.999000	0.42202	0.946000	0.38457	0.857000	0.48899	4.169000	0.58223	2.333000	0.79357	0.467000	0.42956	CGA		0.642	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398978.1	NM_175066		14	60	0	0	0	1	0	14	60				
FRG1B	284802	broad.mit.edu	37	20	29633900	29633900	+	Missense_Mutation	SNP	A	A	G	rs60081496		TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr20:29633900A>G	ENST00000278882.3	+	9	919	c.539A>G	c.(538-540)gAa>gGa	p.E180G	FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	180								p.E180G(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAAACAAGAGAACCAAATTGA	0.264																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.E180G(2)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(538-540)gAa>gGa																																						SO:0001583	missense	0							g.chr20:29633900A>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.539A>G	20.37:g.29633900A>G	ENSP00000278882:p.Glu180Gly					FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G	p.E180G							9	919	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.539A>G		.	.	.	.	.	.	.	.	.	.	a	9.128	1.010735	0.19277	.	.	ENSG00000149531	ENST00000278882;ENST00000358464	.	.	.	1.62	1.62	0.23740	.	.	.	.	.	T	0.41351	0.1155	.	.	.	0.21697	N	0.999586	.	.	.	.	.	.	T	0.36625	-0.9740	5	0.87932	D	0	.	7.2988	0.26408	1.0:0.0:0.0:0.0	rs60081496	.	.	.	G	180	.	ENSP00000278882:E180G	E	+	2	0	FRG1B	28247561	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	4.560000	0.60802	0.995000	0.38917	0.411000	0.27672	GAA		0.264	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	69	0	0	0	1	0	5	69				
TNIK	23043	broad.mit.edu	37	3	170802094	170802094	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr3:170802094G>T	ENST00000436636.2	-	26	3363	c.3019C>A	c.(3019-3021)Ctt>Att	p.L1007I	TNIK_ENST00000488470.1_Missense_Mutation_p.L952I|TNIK_ENST00000341852.6_Missense_Mutation_p.L923I|TNIK_ENST00000475336.1_Missense_Mutation_p.L915I|TNIK_ENST00000538048.1_Missense_Mutation_p.L959I|TNIK_ENST00000284483.8_Missense_Mutation_p.L999I|TNIK_ENST00000369326.5_Missense_Mutation_p.L985I|TNIK_ENST00000470834.1_Missense_Mutation_p.L970I|TNIK_ENST00000460047.1_Missense_Mutation_p.L944I|TNIK_ENST00000357327.5_Missense_Mutation_p.L978I	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1007	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TCTTGCCTAAGAAGTTCGCTA	0.398																																						ENST00000436636.2																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62						c.(3019-3021)Ctt>Att		TRAF2 and NCK interacting kinase							140.0	135.0	137.0					3																	170802094		1847	4097	5944	SO:0001583	missense	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170802094G>T	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.3019C>A	3.37:g.170802094G>T	ENSP00000399511:p.Leu1007Ile					TNIK_ENST00000369326.5_Missense_Mutation_p.L985I|TNIK_ENST00000470834.1_Missense_Mutation_p.L970I|TNIK_ENST00000460047.1_Missense_Mutation_p.L944I|TNIK_ENST00000357327.5_Missense_Mutation_p.L978I|TNIK_ENST00000341852.6_Missense_Mutation_p.L923I|TNIK_ENST00000538048.1_Missense_Mutation_p.L959I|TNIK_ENST00000488470.1_Missense_Mutation_p.L952I|TNIK_ENST00000284483.8_Missense_Mutation_p.L999I|TNIK_ENST00000475336.1_Missense_Mutation_p.L915I	p.L1007I	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		26	3363	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		1007			Mediates interaction with NEDD4.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	c.3019C>A	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696725	0.48202	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.73047	-0.71;-0.69;-0.7;-0.71;-0.71;-0.71;-0.71;-0.71;-0.7;-0.71	5.95	5.08	0.68730	.	0.129559	0.53938	D	0.000047	T	0.69628	0.3132	M	0.61703	1.905	0.54753	D	0.999987	B;B;B;B;B;B;B;B	0.29301	0.241;0.001;0.241;0.241;0.148;0.002;0.241;0.189	B;B;B;B;B;B;B;B	0.33799	0.135;0.005;0.135;0.135;0.17;0.008;0.135;0.082	T	0.66308	-0.5956	10	0.28530	T	0.3	.	15.0248	0.71659	0.0679:0.0:0.9321:0.0	.	915;970;944;923;999;978;952;1007	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	I	1007;985;959;923;999;915;978;944;952;970	ENSP00000399511:L1007I;ENSP00000358332:L985I;ENSP00000443278:L959I;ENSP00000345352:L923I;ENSP00000284483:L999I;ENSP00000418156:L915I;ENSP00000349880:L978I;ENSP00000418916:L944I;ENSP00000418378:L952I;ENSP00000419990:L970I	ENSP00000284483:L999I	L	-	1	0	TNIK	172284788	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.224000	0.78042	1.518000	0.48934	0.650000	0.86243	CTT		0.398	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		67	16	1	0	9.2564e-22	1	1.05654e-21	67	16				
HKDC1	80201	broad.mit.edu	37	10	71007270	71007270	+	Missense_Mutation	SNP	C	C	T	rs139689016	byFrequency	TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr10:71007270C>T	ENST00000354624.5	+	9	1319	c.1186C>T	c.(1186-1188)Cgc>Tgc	p.R396C	HKDC1_ENST00000395086.2_Missense_Mutation_p.R396C|HKDC1_ENST00000488706.1_3'UTR	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	396	Hexokinase type-2 1.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CATCCTGACACGCCTCCGGGA	0.607																																						ENST00000354624.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1186-1188)Cgc>Tgc		hexokinase domain containing 1		C	CYS/ARG	0,4406		0,0,2203	77.0	71.0	73.0		1186	3.9	0.8	10	dbSNP_134	73	1,8599	1.2+/-3.3	0,1,4299	no	missense	HKDC1	NM_025130.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	396/918	71007270	1,13005	2203	4300	6503	SO:0001583	missense	80201				glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	g.chr10:71007270C>T		CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.1186C>T	10.37:g.71007270C>T	ENSP00000346643:p.Arg396Cys					HKDC1_ENST00000395086.2_Missense_Mutation_p.R396C|HKDC1_ENST00000488706.1_3'UTR	p.R396C	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN			9	1319	+			396					B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	ENST00000354624.5	37	c.1186C>T	CCDS7288.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.208347	0.39003	0.0	1.16E-4	ENSG00000156510	ENST00000354624;ENST00000395087;ENST00000395086	D;D	0.96830	-4.14;-4.14	4.84	3.94	0.45596	Hexokinase, C-terminal (1);	0.060452	0.64402	N	0.000002	D	0.96272	0.8784	M	0.84948	2.725	0.80722	D	1	D	0.56035	0.974	P	0.45167	0.472	D	0.95780	0.8816	10	0.59425	D	0.04	-16.7749	13.45	0.61165	0.0:0.924:0.0:0.076	.	396	Q2TB90	HKDC1_HUMAN	C	396	ENSP00000346643:R396C;ENSP00000378521:R396C	ENSP00000346643:R396C	R	+	1	0	HKDC1	70677276	1.000000	0.71417	0.801000	0.32222	0.042000	0.13812	4.795000	0.62489	1.262000	0.44165	-0.224000	0.12420	CGC		0.607	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130		12	67	0	0	0	1	0	12	67				
ARID1A	8289	broad.mit.edu	37	1	27057894	27057894	+	Nonsense_Mutation	SNP	C	C	G			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr1:27057894C>G	ENST00000324856.7	+	3	1973	c.1602C>G	c.(1600-1602)taC>taG	p.Y534*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Y151*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Y534*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	534					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CGGCTCCATACCCCTCCCAGC	0.632			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(1600-1602)taC>taG		AT rich interactive domain 1A (SWI-like)							240.0	236.0	238.0					1																	27057894		2203	4300	6503	SO:0001587	stop_gained	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27057894C>G	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1602C>G	1.37:g.27057894C>G	ENSP00000320485:p.Tyr534*					ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Y151*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Y534*	p.Y534*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	3	1973	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	534					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	c.1602C>G	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.608750	0.87258	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	.	.	.	5.44	1.18	0.20946	.	0.167556	0.41938	D	0.000795	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.8853	4.9842	0.14182	0.1395:0.4398:0.0:0.4207	.	.	.	.	X	534;534;151	.	ENSP00000320485:Y534X	Y	+	3	2	ARID1A	26930481	0.957000	0.32711	1.000000	0.80357	0.973000	0.67179	0.130000	0.15850	0.395000	0.25257	0.655000	0.94253	TAC		0.632	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		230	311	0	0	0	1	0	230	311				
HOXB9	3219	broad.mit.edu	37	17	46700472	46700472	+	Silent	SNP	G	G	A	rs371256693	byFrequency	TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr17:46700472G>A	ENST00000311177.5	-	2	750	c.543C>T	c.(541-543)caC>caT	p.H181H	HOXB7_ENST00000567101.2_Intron|HOXB9_ENST00000550387.1_Missense_Mutation_p.R102C	NM_024017.4	NP_076922.1	P17482	HXB9_HUMAN	homeobox B9	181					anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|embryonic skeletal system development (GO:0048706)|mammary gland development (GO:0030879)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						AAGAGCGAGCGTGCAGCCAGT	0.547													G|||	2	0.000399361	0.0	0.0	5008	,	,		19642	0.0		0.0	False		,,,				2504	0.002					ENST00000550387.1																			0				breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						c.(304-306)Cgc>Tgc		homeobox B9		G		0,4406		0,0,2203	117.0	110.0	112.0		543	4.5	1.0	17		112	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	HOXB9	NM_024017.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		181/251	46700472	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3219				canonical Wnt receptor signaling pathway|cell chemotaxis	mitochondrion|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46700472G>A		CCDS11534.1	17q21.32	2011-06-20	2005-12-22		ENSG00000170689	ENSG00000170689		"""Homeoboxes / ANTP class : HOXL subclass"""	5120	protein-coding gene	gene with protein product		142964	"""homeo box B9"""	HOX2E, HOX2		1973146, 1358459	Standard	NM_024017		Approved		uc002inx.3	P17482	OTTHUMG00000159907	ENST00000311177.5:c.543C>T	17.37:g.46700472G>A						HOXB9_ENST00000311177.5_Silent_p.H181H|HOXB7_ENST00000567101.1_Intron	p.R102C			P17482	HXB9_HUMAN			2	507	-			0					B2RDB7|Q9H1I1	Missense_Mutation	SNP	ENST00000311177.5	37	c.304C>T	CCDS11534.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.934607	0.52866	0.0	1.16E-4	ENSG00000170689	ENST00000550387	.	.	.	5.71	4.54	0.55810	.	.	.	.	.	T	0.59662	0.2210	.	.	.	0.37945	D	0.932458	.	.	.	.	.	.	T	0.62826	-0.6772	5	0.46703	T	0.11	.	7.4654	0.27318	0.1806:0.1522:0.6671:0.0	.	.	.	.	C	102	.	ENSP00000447530:R102C	R	-	1	0	HOXB9	44055471	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.667000	0.25112	2.699000	0.92147	0.655000	0.94253	CGC		0.547	HOXB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358101.2			24	105	0	0	0	1	0	24	105				
WWP1	11059	broad.mit.edu	37	8	87454894	87454894	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr8:87454894T>C	ENST00000517970.1	+	18	2192	c.1885T>C	c.(1885-1887)Tgc>Cgc	p.C629R	WWP1_ENST00000265428.4_Missense_Mutation_p.C629R|WWP1_ENST00000341922.2_Missense_Mutation_p.C499R|WWP1_ENST00000349423.2_Missense_Mutation_p.C411R	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	629	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						CCCAATGTATTGCTTATTTGA	0.323																																						ENST00000517970.1																			0				endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						c.(1885-1887)Tgc>Cgc		WW domain containing E3 ubiquitin protein ligase 1							113.0	102.0	106.0					8																	87454894		2203	4300	6503	SO:0001583	missense	11059				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr8:87454894T>C	AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.1885T>C	8.37:g.87454894T>C	ENSP00000427793:p.Cys629Arg					WWP1_ENST00000265428.4_Missense_Mutation_p.C629R|WWP1_ENST00000341922.2_Missense_Mutation_p.C499R|WWP1_ENST00000349423.2_Missense_Mutation_p.C411R	p.C629R	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN			18	2192	+			629			HECT.		O00307|Q5YLC1|Q96BP4	Missense_Mutation	SNP	ENST00000517970.1	37	c.1885T>C	CCDS6242.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.8|21.8	4.197103|4.197103	0.79015|0.79015	.|.	.|.	ENSG00000123124|ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000349423|ENST00000520453	T;T;T;T|.	0.55760|.	0.5;0.5;0.5;0.5|.	5.4|5.4	5.4|5.4	0.78164|0.78164	HECT (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74596|0.74596	0.3737|0.3737	M|M	0.74647|0.74647	2.275|2.275	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.97110|.	0.961;1.0|.	T|T	0.75425|0.75425	-0.3322|-0.3322	10|5	0.72032|.	D|.	0.01|.	.|.	15.4113|15.4113	0.74923|0.74923	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	411;629|.	Q9H0M0-6;Q9H0M0|.	.;WWP1_HUMAN|.	R|S	629;629;499;411|129	ENSP00000427793:C629R;ENSP00000265428:C629R;ENSP00000340564:C499R;ENSP00000342665:C411R|.	ENSP00000265428:C629R|.	C|L	+|+	1|2	0|0	WWP1|WWP1	87524010|87524010	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.997000|7.997000	0.88414|0.88414	2.027000|2.027000	0.59764|0.59764	0.477000|0.477000	0.44152|0.44152	TGC|TTG		0.323	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013		3	36	0	0	0	1	0	3	36				
IRS4	8471	broad.mit.edu	37	X	107976125	107976125	+	Silent	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chrX:107976125G>A	ENST00000372129.2	-	1	3526	c.3450C>T	c.(3448-3450)gcC>gcT	p.A1150A	RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	1150	Ala-rich.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CAGCAGCTGCGGCTGCTGCGC	0.657																																						ENST00000372129.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(3448-3450)gcC>gcT		insulin receptor substrate 4							28.0	35.0	32.0					X																	107976125		2084	4040	6124	SO:0001819	synonymous_variant	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107976125G>A	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.3450C>T	X.37:g.107976125G>A							p.A1150A	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN			1	3526	-			1150			Ala-rich.			Silent	SNP	ENST00000372129.2	37	c.3450C>T	CCDS14544.1																																																																																				0.657	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		25	164	0	0	0	1	0	25	164				
TTC21A	199223	broad.mit.edu	37	3	39150702	39150702	+	Nonsense_Mutation	SNP	G	G	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr3:39150702G>T	ENST00000431162.2	+	2	288	c.154G>T	c.(154-156)Gaa>Taa	p.E52*	GORASP1_ENST00000479927.1_5'Flank|GORASP1_ENST00000422110.2_5'Flank|GORASP1_ENST00000319283.3_5'Flank|TTC21A_ENST00000440121.1_Nonsense_Mutation_p.E52*|TTC21A_ENST00000301819.6_Nonsense_Mutation_p.E52*			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	52										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		AGTCCTCAAAGAAGGTAAGGA	0.502																																						ENST00000301819.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50						c.(154-156)Gaa>Taa		tetratricopeptide repeat domain 21A							67.0	67.0	67.0					3																	39150702		1951	4128	6079	SO:0001587	stop_gained	199223						binding	g.chr3:39150702G>T	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.154G>T	3.37:g.39150702G>T	ENSP00000398211:p.Glu52*					TTC21A_ENST00000440121.1_Nonsense_Mutation_p.E52*|TTC21A_ENST00000431162.2_Nonsense_Mutation_p.E52*	p.E52*	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	2	331	+			52					A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Nonsense_Mutation	SNP	ENST00000431162.2	37	c.154G>T	CCDS46800.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225842	0.79576	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	.	.	.	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-15.3358	16.982	0.86331	0.0:0.0:1.0:0.0	.	.	.	.	X	52	.	ENSP00000301819:E52X	E	+	1	0	TTC21A	39125706	0.998000	0.40836	0.969000	0.41365	0.585000	0.36419	2.702000	0.47102	2.618000	0.88619	0.563000	0.77884	GAA		0.502	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755		31	4	1	0	3.73148e-12	1	4.09376e-12	31	4				
ZNF700	90592	broad.mit.edu	37	19	12060050	12060050	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr19:12060050C>A	ENST00000254321.5	+	4	1354	c.1211C>A	c.(1210-1212)tCc>tAc	p.S404Y	ZNF763_ENST00000591944.1_Intron|ZNF700_ENST00000482090.1_Missense_Mutation_p.S386Y|ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000538752.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	404					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						CTTTCCAGTTCCTTTCGATAT	0.423																																						ENST00000482090.1																		ZNF700/MAST1_ENST00000251472(2)	0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						c.(1156-1158)tCc>tAc		zinc finger protein 700							59.0	59.0	59.0					19																	12060050		2203	4300	6503	SO:0001583	missense	90592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12060050C>A	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1211C>A	19.37:g.12060050C>A	ENSP00000254321:p.Ser404Tyr					CTD-2006C1.12_ENST00000586394.1_RNA|ZNF700_ENST00000254321.5_Missense_Mutation_p.S404Y|ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000538752.1_Intron	p.S386Y			Q9H0M5	ZN700_HUMAN			3	1575	+			404					B9EGU4	Missense_Mutation	SNP	ENST00000254321.5	37	c.1157C>A	CCDS32915.1	.	.	.	.	.	.	.	.	.	.	c	8.298	0.819320	0.16607	.	.	ENSG00000196757	ENST00000254321	T	0.16073	2.37	0.672	0.672	0.17935	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27241	0.0668	L	0.42245	1.32	0.09310	N	1	D	0.76494	0.999	D	0.77004	0.989	T	0.13176	-1.0519	9	0.32370	T	0.25	.	7.1436	0.25570	0.0:0.9999:0.0:1.0E-4	.	404	Q9H0M5	ZN700_HUMAN	Y	404	ENSP00000254321:S404Y	ENSP00000254321:S404Y	S	+	2	0	ZNF700	11921050	0.000000	0.05858	0.006000	0.13384	0.139000	0.21198	-1.214000	0.02988	0.623000	0.30267	0.305000	0.20034	TCC		0.423	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566		11	52	1	0	3.86212e-05	1	3.96745e-05	11	52				
TRMT10A	93587	broad.mit.edu	37	4	100470301	100470301	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr4:100470301C>G	ENST00000273962.3	-	8	1276	c.964G>C	c.(964-966)Gaa>Caa	p.E322Q	TRMT10A_ENST00000394877.3_Missense_Mutation_p.E322Q|TRMT10A_ENST00000394876.2_Missense_Mutation_p.E322Q	NM_152292.4	NP_689505.1	Q8TBZ6	TM10A_HUMAN	tRNA methyltransferase 10 homolog A (S. cerevisiae)	322					magnesium ion homeostasis (GO:0010960)	extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)										TCCTGCTTTTCTTCATGTGGT	0.403																																						ENST00000273962.3																			0											c.(964-966)Gaa>Caa		tRNA methyltransferase 10 homolog A (S. cerevisiae)							226.0	201.0	210.0					4																	100470301		2203	4300	6503	SO:0001583	missense	93587							g.chr4:100470301C>G	BC028373	CCDS3650.1	4q23	2012-06-28	2012-06-28	2012-06-28	ENSG00000145331	ENSG00000145331			28403	protein-coding gene	gene with protein product			"""RNA (guanine-9-) methyltransferase domain containing 2"""	RG9MTD2		12477932	Standard	NM_152292		Approved	MGC27034, TRM10	uc003hva.4	Q8TBZ6	OTTHUMG00000131025	ENST00000273962.3:c.964G>C	4.37:g.100470301C>G	ENSP00000273962:p.Glu322Gln					TRMT10A_ENST00000394876.2_Missense_Mutation_p.E322Q|TRMT10A_ENST00000394877.3_Missense_Mutation_p.E322Q	p.E322Q	NM_152292.4	NP_689505.1					8	1276	-								B2R8X7|Q9Y2T9	Missense_Mutation	SNP	ENST00000273962.3	37	c.964G>C	CCDS3650.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.671730	0.47781	.	.	ENSG00000145331	ENST00000394877;ENST00000273962;ENST00000394876	T;T;T	0.18338	2.22;2.22;2.22	6.07	6.07	0.98685	.	1.915940	0.02080	N	0.052249	T	0.18215	0.0437	L	0.29908	0.895	0.09310	N	1	P	0.39391	0.671	B	0.32289	0.143	T	0.52132	-0.8616	10	0.26408	T	0.33	-9.7153	18.1532	0.89682	0.0:1.0:0.0:0.0	.	322	Q8TBZ6	RG9D2_HUMAN	Q	322	ENSP00000378343:E322Q;ENSP00000273962:E322Q;ENSP00000378342:E322Q	ENSP00000273962:E322Q	E	-	1	0	RG9MTD2	100689324	0.032000	0.19561	0.024000	0.17045	0.116000	0.19942	1.077000	0.30741	2.885000	0.99019	0.655000	0.94253	GAA		0.403	TRMT10A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253668.1	NM_152292		10	61	0	0	0	1	0	10	61				
ADCY2	108	broad.mit.edu	37	5	7727300	7727300	+	Silent	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr5:7727300G>A	ENST00000338316.4	+	14	1886	c.1797G>A	c.(1795-1797)gcG>gcA	p.A599A	ADCY2_ENST00000537121.1_Silent_p.A419A|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	599					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CACTGCCAGCGTTCAAGTATT	0.502																																						ENST00000338316.4																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(1795-1797)gcG>gcA		adenylate cyclase 2 (brain)							191.0	168.0	176.0					5																	7727300		2203	4300	6503	SO:0001819	synonymous_variant	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7727300G>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1797G>A	5.37:g.7727300G>A						RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Silent_p.A419A	p.A599A	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN			14	1886	+			599					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	37	c.1797G>A	CCDS3872.2																																																																																				0.502	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		25	44	0	0	0	1	0	25	44				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		11	1	1	0	4.36969e-10	1	4.74784e-10	11	1				
PLEC	5339	broad.mit.edu	37	8	144999757	144999757	+	Missense_Mutation	SNP	C	C	T	rs375600751		TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr8:144999757C>T	ENST00000322810.4	-	31	4920	c.4751G>A	c.(4750-4752)cGg>cAg	p.R1584Q	PLEC_ENST00000354958.2_Missense_Mutation_p.R1425Q|PLEC_ENST00000436759.2_Missense_Mutation_p.R1474Q|PLEC_ENST00000527096.1_Missense_Mutation_p.R1470Q|PLEC_ENST00000356346.3_Missense_Mutation_p.R1433Q|PLEC_ENST00000398774.2_Missense_Mutation_p.R1415Q|PLEC_ENST00000345136.3_Missense_Mutation_p.R1447Q|PLEC_ENST00000354589.3_Missense_Mutation_p.R1447Q|PLEC_ENST00000357649.2_Missense_Mutation_p.R1451Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1584	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GATGCGCAGCCGGCTGCGCTC	0.711																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(4750-4752)cGg>cAg		plectin		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,3714		0,0,1857	4.0	5.0	5.0		4340,4352,4340,4244,4751,4274,4298,4421	3.6	1.0	8		5	1,7695		0,1,3847	no	missense,missense,missense,missense,missense,missense,missense,missense	PLEC	NM_201384.1,NM_201383.1,NM_201382.2,NM_201381.1,NM_201380.2,NM_201379.1,NM_201378.2,NM_000445.3	43,43,43,43,43,43,43,43	0,1,5704	TT,TC,CC		0.013,0.0,0.0088	benign,benign,benign,benign,benign,benign,benign,benign	1447/4548,1451/4552,1447/4548,1415/4516,1584/4685,1425/4526,1433/4534,1474/4575	144999757	1,11409	1857	3848	5705	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144999757C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.4751G>A	8.37:g.144999757C>T	ENSP00000323856:p.Arg1584Gln					PLEC_ENST00000354589.3_Missense_Mutation_p.R1447Q|PLEC_ENST00000436759.2_Missense_Mutation_p.R1474Q|PLEC_ENST00000354958.2_Missense_Mutation_p.R1425Q|PLEC_ENST00000398774.2_Missense_Mutation_p.R1415Q|PLEC_ENST00000527096.1_Missense_Mutation_p.R1470Q|PLEC_ENST00000356346.3_Missense_Mutation_p.R1433Q|PLEC_ENST00000345136.3_Missense_Mutation_p.R1447Q|PLEC_ENST00000357649.2_Missense_Mutation_p.R1451Q	p.R1584Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			31	4920	-			1584			Central fibrous rod domain.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.4751G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.267234	0.23136	0.0	1.3E-4	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98;1.98;1.98;1.98;1.98	4.44	3.56	0.40772	.	0.190202	0.30911	N	0.008623	T	0.22322	0.0538	M	0.68593	2.085	0.42564	D	0.993154	B;B;B;B;B;B;B;B	0.31125	0.309;0.309;0.309;0.206;0.309;0.309;0.309;0.309	B;B;B;B;B;B;B;B	0.23852	0.049;0.049;0.049;0.022;0.049;0.049;0.049;0.049	T	0.05699	-1.0869	10	0.52906	T	0.07	.	12.301	0.54874	0.0:0.9144:0.0:0.0855	.	1474;1433;1425;1584;1415;1447;1451;1447	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	Q	1447;1451;1447;1415;1584;1425;1433;1474;1470	ENSP00000344848:R1447Q;ENSP00000350277:R1451Q;ENSP00000346602:R1447Q;ENSP00000381756:R1415Q;ENSP00000323856:R1584Q;ENSP00000347044:R1425Q;ENSP00000348702:R1433Q;ENSP00000388180:R1474Q;ENSP00000434583:R1470Q	ENSP00000323856:R1584Q	R	-	2	0	PLEC	145071745	0.998000	0.40836	0.979000	0.43373	0.313000	0.28021	3.867000	0.56047	0.982000	0.38575	-0.404000	0.06349	CGG		0.711	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		24	2	0	0	0	1	0	24	2				
SCGB1D2	10647	broad.mit.edu	37	11	62009833	62009833	+	Splice_Site	SNP	G	G	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr11:62009833G>T	ENST00000244926.3	+	1	152	c.54G>T	c.(52-54)caG>caT	p.Q18H	RP11-703H8.9_ENST00000529875.1_RNA	NM_006551.3	NP_006542.1	O95969	SG1D2_HUMAN	secretoglobin, family 1D, member 2	18						extracellular space (GO:0005615)				breast(1)|endometrium(1)|lung(1)	3						GCTGCTACCAGGGTGAGTACA	0.537																																						ENST00000244926.3																			0				breast(1)|endometrium(1)|lung(1)	3						c.e1+1		secretoglobin, family 1D, member 2							158.0	119.0	132.0					11																	62009833		2202	4299	6501	SO:0001630	splice_region_variant	10647					extracellular space	binding	g.chr11:62009833G>T	AJ224172	CCDS8017.1	11q13	2011-12-14			ENSG00000124935	ENSG00000124935		"""Secretoglobins"""	18396	protein-coding gene	gene with protein product	"""prostatein-like lipophilin B"", ""lipophilin B (uteroglobin family member), prostatein-like"""	615061				10066439, 9720917, 22155607	Standard	XM_006718422		Approved	LPHB, LIPB	uc001ntb.3	O95969	OTTHUMG00000167508	ENST00000244926.3:c.55+1G>T	11.37:g.62009833G>T						RP11-703H8.9_ENST00000529875.1_RNA	p.Q18_splice	NM_006551.3	NP_006542.1	O95969	SG1D2_HUMAN			1	152	+			18					Q2M3N9	Splice_Site	SNP	ENST00000244926.3	37	c.55_splice	CCDS8017.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.804637	0.50315	.	.	ENSG00000124935	ENST00000244926	T	0.18338	2.22	2.03	-0.0235	0.13943	.	2.723280	0.02611	U	0.102147	T	0.28532	0.0706	.	.	.	0.09310	N	1	D	0.67145	0.996	P	0.56700	0.804	T	0.10177	-1.0641	9	0.72032	D	0.01	.	3.1802	0.06582	0.1801:0.2833:0.5366:0.0	.	18	O95969	SG1D2_HUMAN	H	18	ENSP00000244926:Q18H	ENSP00000244926:Q18H	Q	+	3	2	SCGB1D2	61766409	0.003000	0.15002	0.327000	0.25402	0.629000	0.37895	-0.827000	0.04424	0.003000	0.14656	0.313000	0.20887	CAG		0.537	SCGB1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394859.1	NM_006551	Missense_Mutation	24	38	1	0	9.95505e-16	1	1.11378e-15	24	38				
FXYD5	53827	broad.mit.edu	37	19	35657174	35657174	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr19:35657174C>T	ENST00000342879.3	+	7	1211	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	FXYD5_ENST00000591716.2_3'UTR|FXYD5_ENST00000423817.3_Missense_Mutation_p.R145W|FXYD5_ENST00000588699.1_Missense_Mutation_p.R145W|FXYD5_ENST00000590686.1_Missense_Mutation_p.R145W|FXYD5_ENST00000543307.1_Missense_Mutation_p.R145W|FXYD5_ENST00000541435.2_Missense_Mutation_p.R145W|FXYD5_ENST00000392219.2_Missense_Mutation_p.R145W|FXYD5_ENST00000392217.3_Missense_Mutation_p.R74W			Q96DB9	FXYD5_HUMAN	FXYD domain containing ion transport regulator 5	145					microvillus assembly (GO:0030033)|negative regulation of calcium-dependent cell-cell adhesion (GO:0046588)	integral component of membrane (GO:0016021)	actin binding (GO:0003779)|cadherin binding (GO:0045296)|ion channel activity (GO:0005216)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CCTCCGGAAACGGGGGCTGTT	0.552																																						ENST00000342879.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						c.(433-435)Cgg>Tgg		FXYD domain containing ion transport regulator 5							195.0	199.0	197.0					19																	35657174		2203	4300	6503	SO:0001583	missense	53827				microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion	integral to membrane	actin binding|cadherin binding|ion channel activity	g.chr19:35657174C>T	AF161462	CCDS12447.1	19q13.12	2008-02-05	2002-01-14		ENSG00000089327	ENSG00000089327			4029	protein-coding gene	gene with protein product	"""dysadherin"""	606669	"""FXYD domain-containing ion transport regulator 5"""				Standard	NM_144779		Approved	OIT2	uc002nyg.2	Q96DB9	OTTHUMG00000048092	ENST00000342879.3:c.433C>T	19.37:g.35657174C>T	ENSP00000344254:p.Arg145Trp					FXYD5_ENST00000541435.2_Missense_Mutation_p.R145W|FXYD5_ENST00000590686.1_Missense_Mutation_p.R145W|FXYD5_ENST00000591716.2_3'UTR|FXYD5_ENST00000392217.3_Missense_Mutation_p.R74W|FXYD5_ENST00000588699.1_Missense_Mutation_p.R145W|FXYD5_ENST00000543307.1_Missense_Mutation_p.R145W|FXYD5_ENST00000392219.2_Missense_Mutation_p.R145W|FXYD5_ENST00000423817.3_Missense_Mutation_p.R145W	p.R145W			Q96DB9	FXYD5_HUMAN	Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)		7	1211	+	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		145					B7WNZ8|Q6UW44|Q9HC34|Q9P039	Missense_Mutation	SNP	ENST00000342879.3	37	c.433C>T	CCDS12447.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885248	0.72410	.	.	ENSG00000089327	ENST00000543307;ENST00000392219;ENST00000541435;ENST00000342879;ENST00000423817;ENST00000392217	T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	5.17	2.85	0.33270	.	0.564744	0.17017	N	0.190267	T	0.72969	0.3527	L	0.57536	1.79	0.34773	D	0.733918	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.984;0.998	T	0.79162	-0.1917	10	0.66056	D	0.02	-12.5055	10.1426	0.42744	0.4077:0.5923:0.0:0.0	.	145;74;145	F5H4X8;Q96DB9-2;Q96DB9	.;.;FXYD5_HUMAN	W	145;145;145;145;145;74	ENSP00000444839:R145W;ENSP00000376053:R145W;ENSP00000443390:R145W;ENSP00000344254:R145W;ENSP00000393848:R145W;ENSP00000376051:R74W	ENSP00000344254:R145W	R	+	1	2	FXYD5	40349014	0.546000	0.26457	0.981000	0.43875	0.945000	0.59286	0.671000	0.25172	1.328000	0.45358	0.563000	0.77884	CGG		0.552	FXYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109443.1	NM_014164		55	105	0	0	0	1	0	55	105				
SV2B	9899	broad.mit.edu	37	15	91795210	91795210	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr15:91795210C>T	ENST00000394232.1	+	3	1083	c.613C>T	c.(613-615)Cga>Tga	p.R205*	SV2B_ENST00000545111.2_Nonsense_Mutation_p.R54*|SV2B_ENST00000330276.4_Nonsense_Mutation_p.R205*	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	205					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			CCTCTTCTGCCGACTCATCTC	0.557																																						ENST00000394232.1																			0				NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(613-615)Cga>Tga		synaptic vesicle glycoprotein 2B							129.0	105.0	113.0					15																	91795210		2198	4298	6496	SO:0001587	stop_gained	9899				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr15:91795210C>T	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.613C>T	15.37:g.91795210C>T	ENSP00000377779:p.Arg205*					SV2B_ENST00000330276.4_Nonsense_Mutation_p.R205*|SV2B_ENST00000545111.2_Nonsense_Mutation_p.R54*	p.R205*	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0895)		3	1083	+	Lung NSC(78;0.0987)|all_lung(78;0.172)		205					B4DH30|C6G489|O94840|Q6IAR8	Nonsense_Mutation	SNP	ENST00000394232.1	37	c.613C>T	CCDS10370.1	.	.	.	.	.	.	.	.	.	.	C	39	7.700385	0.98441	.	.	ENSG00000185518	ENST00000545111;ENST00000394232;ENST00000330276	.	.	.	5.38	3.35	0.38373	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.2874	13.0068	0.58710	0.3915:0.6085:0.0:0.0	.	.	.	.	X	54;205;205	.	ENSP00000332818:R205X	R	+	1	2	SV2B	89596214	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.963000	0.40452	0.588000	0.29660	0.563000	0.77884	CGA		0.557	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848		19	13	0	0	0	1	0	19	13				
TTC12	54970	broad.mit.edu	37	11	113222820	113222820	+	Missense_Mutation	SNP	C	C	T	rs147647661		TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr11:113222820C>T	ENST00000529221.1	+	16	1442	c.1337C>T	c.(1336-1338)tCg>tTg	p.S446L	TTC12_ENST00000314756.3_Missense_Mutation_p.S446L|TTC12_ENST00000478125.1_3'UTR|TTC12_ENST00000483239.2_Missense_Mutation_p.S452L|TTC12_ENST00000393020.1_Missense_Mutation_p.S446L	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	446										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		AGCAGCTCCTCGGCTCTGTGC	0.542																																						ENST00000393020.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1336-1338)tCg>tTg		tetratricopeptide repeat domain 12		C	LEU/SER	1,4401	2.1+/-5.4	0,1,2200	105.0	93.0	97.0		1337	3.4	0.0	11	dbSNP_134	97	0,8592		0,0,4296	no	missense	TTC12	NM_017868.3	145	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	benign	446/706	113222820	1,12993	2201	4296	6497	SO:0001583	missense	54970						binding	g.chr11:113222820C>T	AK000542	CCDS8360.2	11q23.2	2013-01-10			ENSG00000149292	ENSG00000149292		"""Tetratricopeptide (TTC) repeat domain containing"""	23700	protein-coding gene	gene with protein product		610732				12964006	Standard	XM_005271607		Approved	FLJ13859, FLJ20535, TPARM	uc001pnu.3	Q9H892	OTTHUMG00000142832	ENST00000529221.1:c.1337C>T	11.37:g.113222820C>T	ENSP00000433757:p.Ser446Leu					TTC12_ENST00000314756.3_Missense_Mutation_p.S446L|TTC12_ENST00000478125.1_3'UTR|TTC12_ENST00000529221.1_Missense_Mutation_p.S446L|TTC12_ENST00000483239.2_Missense_Mutation_p.S452L	p.S446L			Q9H892	TTC12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)	16	1742	+		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)	446					Q8N5H9|Q9NWY3	Missense_Mutation	SNP	ENST00000529221.1	37	c.1337C>T	CCDS8360.2	.	.	.	.	.	.	.	.	.	.	C	13.32	2.200960	0.38905	2.27E-4	0.0	ENSG00000149292	ENST00000529221;ENST00000314756;ENST00000393020;ENST00000483239	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.29	3.42	0.39159	Armadillo-like helical (1);Armadillo-type fold (1);	0.413435	0.18926	N	0.127338	T	0.38506	0.1043	M	0.70595	2.14	0.09310	N	1	P;P	0.41420	0.749;0.749	B;B	0.22152	0.038;0.038	T	0.39396	-0.9616	10	0.72032	D	0.01	-2.2133	9.5786	0.39472	0.0:0.8343:0.0:0.1657	.	446;446	A8K8G6;Q9H892	.;TTC12_HUMAN	L	446;446;446;452	ENSP00000433757:S446L;ENSP00000315160:S446L;ENSP00000376743:S446L;ENSP00000419652:S452L	ENSP00000315160:S446L	S	+	2	0	TTC12	112728030	0.098000	0.21812	0.001000	0.08648	0.033000	0.12548	2.398000	0.44486	0.730000	0.32425	0.655000	0.94253	TCG		0.542	TTC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286455.2	NM_017868		12	19	0	0	0	1	0	12	19				
EP400	57634	broad.mit.edu	37	12	132547138	132547138	+	Silent	SNP	A	A	G	rs111782215|rs561398509	byFrequency	TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr12:132547138A>G	ENST00000333577.4	+	48	8443	c.8334A>G	c.(8332-8334)caA>caG	p.Q2778Q	EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000389561.2_Silent_p.Q2742Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2778	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2741Q(3)|p.Q2742Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcaacagcagcagc	0.602													G|||	74	0.0147764	0.028	0.0086	5008	,	,		14914	0.0079		0.0119	False		,,,				2504	0.0112					ENST00000333577.4																			4	Substitution - coding silent(4)	p.Q2741Q(3)|p.Q2742Q(1)	prostate(2)|endometrium(1)|kidney(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8332-8334)caA>caG		E1A binding protein p400							48.0	40.0	43.0					12																	132547138		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547138A>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8334A>G	12.37:g.132547138A>G						EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000332482.4_Silent_p.Q2705Q	p.Q2778Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8443	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2778			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8334A>G																																																																																					0.602	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		4	86	0	0	0	1	0	4	86				
ICA1	3382	broad.mit.edu	37	7	8258022	8258022	+	Silent	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr7:8258022C>T	ENST00000402384.3	-	6	758	c.492G>A	c.(490-492)acG>acA	p.T164T	ICA1_ENST00000407906.1_Silent_p.T164T|ICA1_ENST00000265577.7_Silent_p.T163T|ICA1_ENST00000476942.1_5'Flank|ICA1_ENST00000422063.2_Silent_p.T164T|ICA1_ENST00000406470.2_Silent_p.T164T|ICA1_ENST00000401396.1_Silent_p.T152T|ICA1_ENST00000396675.3_Silent_p.T164T			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	164	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|secretory granule membrane (GO:0030667)|synaptic vesicle membrane (GO:0030672)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		CTCTATATTCCGTCCTGCACT	0.478																																						ENST00000402384.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23						c.(490-492)acG>acA		islet cell autoantigen 1, 69kDa							194.0	169.0	178.0					7																	8258022		2203	4300	6503	SO:0001819	synonymous_variant	3382				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane		g.chr7:8258022C>T		CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147			5343	protein-coding gene	gene with protein product		147625	"""islet cell autoantigen 1 (69kD)"""			7918678, 8777998	Standard	NM_001276478		Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000402384.3:c.492G>A	7.37:g.8258022C>T						ICA1_ENST00000406470.2_Silent_p.T164T|ICA1_ENST00000401396.1_Silent_p.T152T|ICA1_ENST00000396675.3_Silent_p.T164T|ICA1_ENST00000407906.1_Silent_p.T164T|ICA1_ENST00000422063.2_Silent_p.T164T|ICA1_ENST00000265577.7_Silent_p.T163T	p.T164T			Q05084	ICA69_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)	6	758	-		Ovarian(82;0.0612)	164			AH.		A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	Silent	SNP	ENST00000402384.3	37	c.492G>A	CCDS34602.1																																																																																				0.478	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324793.1	NM_004968		40	72	0	0	0	1	0	40	72				
DMD	1756	broad.mit.edu	37	X	32305742	32305742	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chrX:32305742C>A	ENST00000357033.4	-	43	6400	c.6194G>T	c.(6193-6195)aGt>aTt	p.S2065I	DMD_ENST00000378677.2_Missense_Mutation_p.S2061I	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2065					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGGCGTTGCACTTTGCAATGC	0.388																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(6193-6195)aGt>aTt		dystrophin							142.0	115.0	124.0					X																	32305742		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32305742C>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.6194G>T	X.37:g.32305742C>A	ENSP00000354923:p.Ser2065Ile					DMD_ENST00000378677.2_Missense_Mutation_p.S2061I	p.S2065I	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			43	6400	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2065					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.6194G>T	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	6.854	0.526901	0.13066	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.53640	0.61;0.61	4.36	2.56	0.30785	.	0.000000	0.43579	U	0.000558	T	0.40767	0.1130	L	0.40543	1.245	0.80722	D	1	P;P;P;P;P	0.40266	0.571;0.473;0.624;0.71;0.71	B;B;B;B;B	0.43413	0.221;0.129;0.329;0.419;0.324	T	0.19910	-1.0291	10	0.38643	T	0.18	.	10.0648	0.42297	0.0:0.748:0.0:0.252	.	2057;2065;2061;724;721	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	I	2057;724;721;2061;2065;2065;1942	ENSP00000367948:S2061I;ENSP00000354923:S2065I	ENSP00000354923:S2065I	S	-	2	0	DMD	32215663	0.998000	0.40836	0.115000	0.21578	0.121000	0.20230	0.756000	0.26419	0.950000	0.37743	0.600000	0.82982	AGT		0.388	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		23	54	1	0	1.10923e-09	1	1.19374e-09	23	54				
GRIA1	2890	broad.mit.edu	37	5	153149914	153149914	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr5:153149914G>A	ENST00000285900.5	+	13	2552	c.2209G>A	c.(2209-2211)Gtg>Atg	p.V737M	GRIA1_ENST00000518783.1_Missense_Mutation_p.V747M|GRIA1_ENST00000448073.4_Missense_Mutation_p.V747M|GRIA1_ENST00000518142.1_Missense_Mutation_p.V657M|GRIA1_ENST00000340592.5_Missense_Mutation_p.V737M|GRIA1_ENST00000521843.2_Missense_Mutation_p.V668M	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	737					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	CACCATGAAGGTGGGAGGTAA	0.502																																						ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(2209-2211)Gtg>Atg		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						104.0	89.0	94.0					5																	153149914		2203	4300	6503	SO:0001583	missense	0				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153149914G>A		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2209G>A	5.37:g.153149914G>A	ENSP00000285900:p.Val737Met					GRIA1_ENST00000340592.5_Missense_Mutation_p.V737M|GRIA1_ENST00000518783.1_Missense_Mutation_p.V747M|GRIA1_ENST00000521843.2_Missense_Mutation_p.V668M|GRIA1_ENST00000518142.1_Missense_Mutation_p.V657M|GRIA1_ENST00000448073.4_Missense_Mutation_p.V747M	p.V737M	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		13	2552	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	737					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.2209G>A	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375003	0.82573	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.37	5.37	0.77165	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.75953	0.3920	H	0.95224	3.64	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;1.0	D;D;D;D;D	0.87578	0.97;0.97;0.998;0.974;0.997	D	0.83842	0.0258	10	0.87932	D	0	.	18.1529	0.89679	0.0:0.0:1.0:0.0	.	747;747;657;737;737	E7ESV8;B7Z9G9;B7Z3F6;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	M	737;737;657;691;737;670;668;747;747	ENSP00000285900:V737M;ENSP00000427920:V657M;ENSP00000339343:V737M;ENSP00000427864:V670M;ENSP00000442108:V668M;ENSP00000428994:V747M;ENSP00000415569:V747M	ENSP00000285900:V737M	V	+	1	0	GRIA1	153130107	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.637000	0.98443	2.521000	0.84997	0.650000	0.86243	GTG		0.502	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			22	41	0	0	0	1	0	22	41				
HSPA2	3306	broad.mit.edu	37	14	65008092	65008092	+	Silent	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr14:65008092C>T	ENST00000394709.1	+	2	601	c.525C>T	c.(523-525)aaC>aaT	p.N175N	HSPA2_ENST00000247207.6_Silent_p.N175N|RP11-973N13.4_ENST00000554918.1_RNA|HSPA2_ENST00000554883.1_3'UTR			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	175					male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		GCATCATCAACGAGCCCACGG	0.652																																					Pancreas(136;1211 1835 24894 31984 38227)	ENST00000247207.6																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22						c.(523-525)aaC>aaT		heat shock 70kDa protein 2							55.0	58.0	57.0					14																	65008092		2203	4300	6503	SO:0001819	synonymous_variant	3306				response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding	g.chr14:65008092C>T	L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"""Heat shock proteins / HSP70"""	5235	protein-coding gene	gene with protein product		140560	"""heat shock 70kD protein 2"""				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.525C>T	14.37:g.65008092C>T						HSPA2_ENST00000554883.1_3'UTR|HSPA2_ENST00000394709.1_Silent_p.N175N	p.N175N	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN		all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)	1	907	+			175					Q15508|Q53XM3|Q9UE78	Silent	SNP	ENST00000394709.1	37	c.525C>T	CCDS9766.1																																																																																				0.652	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280651.1			49	83	0	0	0	1	0	49	83				
ALCAM	214	broad.mit.edu	37	3	105258906	105258906	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr3:105258906A>G	ENST00000306107.5	+	7	1318	c.818A>G	c.(817-819)aAt>aGt	p.N273S	ALCAM_ENST00000389927.4_Intron|ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000472644.2_Missense_Mutation_p.N273S|ALCAM_ENST00000486979.2_Missense_Mutation_p.N222S	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	273	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TGCTTAGGGAATGGCAACCCT	0.398																																						ENST00000306107.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(817-819)aAt>aGt		activated leukocyte cell adhesion molecule							149.0	140.0	143.0					3																	105258906		2203	4300	6503	SO:0001583	missense	214				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr3:105258906A>G	AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	400	protein-coding gene	gene with protein product		601662	"""activated leucocyte cell adhesion molecule"""			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.818A>G	3.37:g.105258906A>G	ENSP00000305988:p.Asn273Ser					ALCAM_ENST00000389927.4_Intron|ALCAM_ENST00000486979.2_Missense_Mutation_p.N222S|ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000472644.2_Missense_Mutation_p.N273S	p.N273S	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN			7	1318	+			273			Ig-like C2-type 1.		B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Missense_Mutation	SNP	ENST00000306107.5	37	c.818A>G	CCDS33810.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.012452	0.75046	.	.	ENSG00000170017	ENST00000306107;ENST00000472644;ENST00000486979	T;T;T	0.11169	2.8;2.8;2.8	6.16	6.16	0.99307	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.084904	0.85682	D	0.000000	T	0.14313	0.0346	N	0.17082	0.46	0.80722	D	1	D;D	0.63046	0.992;0.992	P;P	0.53809	0.735;0.735	T	0.07121	-1.0789	10	0.38643	T	0.18	-29.0577	16.8061	0.85666	1.0:0.0:0.0:0.0	.	273;273	B4DTU0;Q13740	.;CD166_HUMAN	S	273;273;222	ENSP00000305988:N273S;ENSP00000419236:N273S;ENSP00000418213:N222S	ENSP00000305988:N273S	N	+	2	0	ALCAM	106741596	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	6.414000	0.73318	2.367000	0.80283	0.528000	0.53228	AAT		0.398	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1	NM_001627		40	8	0	0	0	1	0	40	8				
MOCS1	4337	broad.mit.edu	37	6	39883911	39883911	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr6:39883911G>A	ENST00000340692.5	-	4	487	c.484C>T	c.(484-486)Cgg>Tgg	p.R162W	MOCS1_ENST00000425303.2_Missense_Mutation_p.R162W|MOCS1_ENST00000308559.7_Missense_Mutation_p.R162W|MOCS1_ENST00000373188.2_Missense_Mutation_p.R162W|MOCS1_ENST00000373175.4_Missense_Mutation_p.R133W|MOCS1_ENST00000373195.3_Missense_Mutation_p.R75W|MOCS1_ENST00000373186.4_Missense_Mutation_p.R162W|MOCS1_ENST00000432280.2_Missense_Mutation_p.R133W			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	162	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					GGCAGTAGCCGGGCCAGGTTG	0.572																																					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)	ENST00000373186.4																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21						c.(484-486)Cgg>Tgg		molybdenum cofactor synthesis 1							69.0	51.0	57.0					6																	39883911		2203	4300	6503	SO:0001583	missense	4337				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding	g.chr6:39883911G>A	AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615			7190	protein-coding gene	gene with protein product		603707				9731530, 10053004	Standard	NM_001075098		Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000340692.5:c.484C>T	6.37:g.39883911G>A	ENSP00000344794:p.Arg162Trp					MOCS1_ENST00000432280.2_Missense_Mutation_p.R133W|MOCS1_ENST00000340692.5_Missense_Mutation_p.R162W|MOCS1_ENST00000373175.4_Missense_Mutation_p.R133W|MOCS1_ENST00000425303.2_Missense_Mutation_p.R162W|MOCS1_ENST00000373188.2_Missense_Mutation_p.R162W|MOCS1_ENST00000373195.3_Missense_Mutation_p.R75W|MOCS1_ENST00000308559.7_Missense_Mutation_p.R162W	p.R162W	NM_005943.5	NP_005934.2	Q9NZB8	MOCS1_HUMAN			3	621	-	Ovarian(28;0.0355)|Colorectal(47;0.196)		162			Molybdenum cofactor biosynthesis protein A.		B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Missense_Mutation	SNP	ENST00000340692.5	37	c.484C>T		.	.	.	.	.	.	.	.	.	.	G	21.6	4.169220	0.78339	.	.	ENSG00000124615	ENST00000373186;ENST00000308559;ENST00000373175;ENST00000373188;ENST00000373195;ENST00000340692;ENST00000425303;ENST00000432280	T;T;T;T;T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47	5.67	5.67	0.87782	Elongator protein 3/MiaB/NifB (1);Aldolase-type TIM barrel (1);Radical SAM (1);	0.053642	0.64402	D	0.000001	D	0.92564	0.7638	H	0.97682	4.055	0.52501	D	0.999959	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.996;1.0;0.999;0.996	D	0.94426	0.7645	9	.	.	.	-27.5143	14.2318	0.65898	0.0:0.0:0.8132:0.1868	.	162;162;162;162;162	Q9NZB8-2;Q9NZB8-5;Q9NZB8;Q9NZB8-8;Q9NZB8-6	.;.;MOCS1_HUMAN;.;.	W	162;162;133;162;75;162;162;133	ENSP00000362282:R162W;ENSP00000309843:R162W;ENSP00000362270:R133W;ENSP00000362284:R162W;ENSP00000362291:R75W;ENSP00000344794:R162W;ENSP00000416478:R162W;ENSP00000410809:R133W	.	R	-	1	2	MOCS1	39991889	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	2.305000	0.43664	2.675000	0.91044	0.650000	0.86243	CGG		0.572	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000040476.2	NM_005943		15	30	0	0	0	1	0	15	30				
KRTAP24-1	643803	broad.mit.edu	37	21	31654815	31654815	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr21:31654815G>A	ENST00000340345.4	-	1	461	c.436C>T	c.(436-438)Cgc>Tgc	p.R146C		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	146						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						GAACCGTTGCGGAGGGTTTGG	0.498																																						ENST00000340345.4																			0				breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						c.(436-438)Cgc>Tgc		keratin associated protein 24-1							118.0	121.0	120.0					21																	31654815		1982	4168	6150	SO:0001583	missense	643803					keratin filament	structural molecule activity	g.chr21:31654815G>A	AB096935	CCDS42915.1	21q22.11	2007-11-23			ENSG00000188694	ENSG00000188694		"""Keratin associated proteins"""	33902	protein-coding gene	gene with protein product							Standard	NM_001085455		Approved	KAP24.1	uc002ynv.3	Q3LI83	OTTHUMG00000125483	ENST00000340345.4:c.436C>T	21.37:g.31654815G>A	ENSP00000339238:p.Arg146Cys						p.R146C	NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN			1	461	-			146					Q1XDX0	Missense_Mutation	SNP	ENST00000340345.4	37	c.436C>T	CCDS42915.1	.	.	.	.	.	.	.	.	.	.	A	7.162	0.585873	0.13749	.	.	ENSG00000188694	ENST00000340345	T	0.03413	3.94	4.96	-8.14	0.01069	.	2.042920	0.02141	N	0.057195	T	0.02230	0.0069	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.40478	-0.9561	10	0.35671	T	0.21	1.7357	0.6659	0.00850	0.3273:0.1621:0.2982:0.2124	.	146	Q3LI83	KR241_HUMAN	C	146	ENSP00000339238:R146C	ENSP00000339238:R146C	R	-	1	0	KRTAP24-1	30576686	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.920000	0.04013	-1.739000	0.01347	-3.876000	0.00017	CGC		0.498	KRTAP24-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246806.2	NM_001085455		27	65	0	0	0	1	0	27	65				
WNK1	65125	broad.mit.edu	37	12	971300	971300	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr12:971300G>A	ENST00000315939.6	+	8	2646	c.2003G>A	c.(2002-2004)cGa>cAa	p.R668Q	WNK1_ENST00000535572.1_Missense_Mutation_p.R668Q|WNK1_ENST00000340908.4_Missense_Mutation_p.R261Q|WNK1_ENST00000537687.1_Missense_Mutation_p.R668Q|WNK1_ENST00000530271.2_Missense_Mutation_p.R668Q	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	668					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			ACAGAATCTCGAGTGAGCAGC	0.468																																					Colon(19;451 567 6672 12618 28860)	ENST00000537687.1																			0				breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104						c.(2002-2004)cGa>cAa		WNK lysine deficient protein kinase 1							172.0	146.0	155.0					12																	971300		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:971300G>A	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.2003G>A	12.37:g.971300G>A	ENSP00000313059:p.Arg668Gln					WNK1_ENST00000530271.2_Missense_Mutation_p.R668Q|WNK1_ENST00000315939.6_Missense_Mutation_p.R668Q|WNK1_ENST00000535572.1_Missense_Mutation_p.R668Q|WNK1_ENST00000340908.4_Missense_Mutation_p.R261Q	p.R668Q	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		8	2646	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		668					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.2003G>A	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.434499	0.25813	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	T;T;T;T;T	0.15487	2.42;2.42;2.42;2.42;2.42	5.91	5.91	0.95273	.	0.119687	0.37761	N	0.001952	T	0.09642	0.0237	N	0.15975	0.35	0.26425	N	0.976033	P;P;B	0.37122	0.583;0.583;0.447	B;B;B	0.34180	0.177;0.177;0.114	T	0.29305	-1.0016	10	0.13470	T	0.59	-11.7667	13.1445	0.59452	0.0731:0.0:0.9269:0.0	.	668;668;668	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	Q	668;668;668;115;668;261	ENSP00000441972:R668Q;ENSP00000313059:R668Q;ENSP00000444465:R668Q;ENSP00000433548:R668Q;ENSP00000341292:R261Q	ENSP00000252477:R115Q	R	+	2	0	WNK1	841561	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.621000	0.61233	2.793000	0.96121	0.655000	0.94253	CGA		0.468	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		38	22	0	0	0	1	0	38	22				
TBX1	6899	broad.mit.edu	37	22	19750852	19750852	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr22:19750852G>A	ENST00000329705.7	+	4	628	c.499G>A	c.(499-501)Gat>Aat	p.D167N	TBX1_ENST00000359500.3_Missense_Mutation_p.D167N|TBX1_ENST00000332710.4_Missense_Mutation_p.D167N	NM_080646.1	NP_542377.1	O43435	TBX1_HUMAN	T-box 1	167					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|aorta morphogenesis (GO:0035909)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|blood vessel morphogenesis (GO:0048514)|blood vessel remodeling (GO:0001974)|cell fate specification (GO:0001708)|cell proliferation (GO:0008283)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|coronary artery morphogenesis (GO:0060982)|determination of left/right symmetry (GO:0007368)|ear morphogenesis (GO:0042471)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic viscerocranium morphogenesis (GO:0048703)|enamel mineralization (GO:0070166)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|lymph vessel development (GO:0001945)|mesenchymal cell apoptotic process (GO:0097152)|mesoderm development (GO:0007498)|middle ear morphogenesis (GO:0042474)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle organ morphogenesis (GO:0048644)|muscle tissue morphogenesis (GO:0060415)|negative regulation of cell differentiation (GO:0045596)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|parathyroid gland development (GO:0060017)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of tongue muscle cell differentiation (GO:2001037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of organ morphogenesis (GO:2000027)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retinoic acid receptor signaling pathway (GO:0048384)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|social behavior (GO:0035176)|soft palate development (GO:0060023)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tongue morphogenesis (GO:0043587)|transcription, DNA-templated (GO:0006351)|vagus nerve morphogenesis (GO:0021644)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				GCCGGTGGACGATAAGCGCTA	0.612																																						ENST00000332710.4																			0				breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8						c.(499-501)Gat>Aat		T-box 1							155.0	118.0	130.0					22																	19750852		2203	4300	6503	SO:0001583	missense	6899				embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:19750852G>A	AF012131	CCDS13765.1, CCDS13766.1, CCDS13767.1	22q11.21	2014-09-17			ENSG00000184058	ENSG00000184058		"""T-boxes"""	11592	protein-coding gene	gene with protein product		602054	"""velocardiofacial syndrome"""	VCF		9268629, 23000736	Standard	NM_080646		Approved	CATCH22	uc002zqa.1	O43435	OTTHUMG00000150421	ENST00000329705.7:c.499G>A	22.37:g.19750852G>A	ENSP00000331176:p.Asp167Asn					TBX1_ENST00000359500.3_Missense_Mutation_p.D167N|TBX1_ENST00000329705.7_Missense_Mutation_p.D167N	p.D167N	NM_080647.1	NP_542378.1	O43435	TBX1_HUMAN			4	628	+	Colorectal(54;0.0993)	all_lung(157;3.05e-06)	167					C6G493|C6G494|O43436|Q96RJ2	Missense_Mutation	SNP	ENST00000329705.7	37	c.499G>A	CCDS13766.1	.	.	.	.	.	.	.	.	.	.	g	29.0	4.965570	0.92855	.	.	ENSG00000184058	ENST00000332710;ENST00000329705;ENST00000359500	D;D;D	0.89270	-2.49;-2.49;-2.49	5.08	5.08	0.68730	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.89767	0.6810	L	0.41710	1.295	0.80722	D	1	D;P;P	0.56746	0.977;0.871;0.791	P;P;B	0.54590	0.756;0.462;0.437	D	0.88353	0.2982	10	0.30854	T	0.27	.	18.4713	0.90776	0.0:0.0:1.0:0.0	.	167;167;167	Q152R5;O43435;D9ZGG0	.;TBX1_HUMAN;.	N	167	ENSP00000331791:D167N;ENSP00000331176:D167N;ENSP00000352483:D167N	ENSP00000331176:D167N	D	+	1	0	TBX1	18130852	1.000000	0.71417	0.998000	0.56505	0.555000	0.35460	8.020000	0.88740	2.349000	0.79799	0.543000	0.68304	GAT		0.612	TBX1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318033.1	NM_080647		31	35	0	0	0	1	0	31	35				
SCP2	6342	broad.mit.edu	37	1	53416540	53416540	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr1:53416540C>G	ENST00000528311.1	+	3	366	c.70C>G	c.(70-72)Cgc>Ggc	p.R24G	SCP2_ENST00000371509.4_Intron|SCP2_ENST00000371514.3_Missense_Mutation_p.R105G|SCP2_ENST00000407246.2_Missense_Mutation_p.R81G|SCP2_ENST00000371513.5_Intron	NM_001193617.1	NP_001180546.1	Q9BX26	SYCP2_HUMAN	sterol carrier protein 2	0					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						GTTTATGGCCCGCCAGCTGAT	0.403																																						ENST00000371514.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						c.(313-315)Cgc>Ggc		sterol carrier protein 2							183.0	170.0	174.0					1																	53416540		2203	4300	6503	SO:0001583	missense	6342				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding	g.chr1:53416540C>G	M75884	CCDS572.1, CCDS30719.1, CCDS41338.1, CCDS44149.1, CCDS44150.1, CCDS53317.1, CCDS53318.1, CCDS53319.1	1p32	2010-08-20			ENSG00000116171	ENSG00000116171			10606	protein-coding gene	gene with protein product		184755				1703300, 1718316	Standard	NM_001007098		Approved		uc001cur.2	P22307	OTTHUMG00000008936	ENST00000528311.1:c.70C>G	1.37:g.53416540C>G	ENSP00000434132:p.Arg24Gly					SCP2_ENST00000371513.5_Intron|SCP2_ENST00000371509.4_Intron|SCP2_ENST00000407246.2_Missense_Mutation_p.R81G|SCP2_ENST00000528311.1_Missense_Mutation_p.R24G	p.R105G	NM_002979.4	NP_002970.2	P22307	NLTP_HUMAN			4	481	+			105					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000528311.1	37	c.313C>G	CCDS53319.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.492241	0.64074	.	.	ENSG00000116171	ENST00000371514;ENST00000528311;ENST00000407246	D;D;D	0.94457	-3.43;-2.64;-3.43	5.61	4.62	0.57501	Thiolase-like, subgroup (1);Thiolase, N-terminal (1);Thiolase-like (1);	0.122006	0.53938	D	0.000041	D	0.95513	0.8542	M	0.83312	2.635	0.80722	D	1	B;P	0.39044	0.263;0.656	B;P	0.46685	0.175;0.524	D	0.95823	0.8851	10	0.87932	D	0	-2.59	12.8882	0.58055	0.2553:0.7447:0.0:0.0	.	81;105	C9JC79;P22307	.;NLTP_HUMAN	G	105;24;81	ENSP00000360569:R105G;ENSP00000434132:R24G;ENSP00000384569:R81G	ENSP00000360569:R105G	R	+	1	0	SCP2	53189128	0.994000	0.37717	1.000000	0.80357	0.986000	0.74619	1.938000	0.40203	2.629000	0.89072	0.563000	0.77884	CGC		0.403	SCP2-010	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387558.1	NM_002979		57	32	0	0	0	1	0	57	32				
PCDHA7	56141	broad.mit.edu	37	5	140216127	140216127	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr5:140216127C>T	ENST00000525929.1	+	1	2159	c.2159C>T	c.(2158-2160)gCg>gTg	p.A720V	PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A720V|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	720					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTACACGGCGTTGCGGTGC	0.617																																					NSCLC(160;258 2013 5070 22440 28951)	ENST00000525929.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(2158-2160)gCg>gTg									101.0	85.0	90.0					5																	140216127		2203	4300	6503	SO:0001583	missense	0							g.chr5:140216127C>T	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.2159C>T	5.37:g.140216127C>T	ENSP00000436426:p.Ala720Val					PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A720V	p.A720V	NM_018910.2	NP_061733.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2159	+								O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.2159C>T	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.183837	0.38609	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.16597	2.33;2.33	3.57	2.69	0.31865	.	0.289408	0.17547	U	0.170301	T	0.18635	0.0447	M	0.70842	2.15	0.25125	N	0.990613	B;B	0.24258	0.1;0.061	B;B	0.20577	0.03;0.021	T	0.14924	-1.0455	10	0.52906	T	0.07	.	7.5321	0.27689	0.0:0.7964:0.0:0.2036	.	720;720	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	V	720	ENSP00000436426:A720V;ENSP00000367365:A720V	ENSP00000367365:A720V	A	+	2	0	PCDHA7	140196311	0.000000	0.05858	0.948000	0.38648	0.598000	0.36846	-0.222000	0.09190	0.819000	0.34492	0.462000	0.41574	GCG		0.617	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		70	45	0	0	0	1	0	70	45				
PPP2R1A	5518	broad.mit.edu	37	19	52716323	52716323	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr19:52716323C>A	ENST00000322088.6	+	6	825	c.767C>A	c.(766-768)tCc>tAc	p.S256Y	PPP2R1A_ENST00000462990.1_Missense_Mutation_p.S77Y|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.S201Y	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	256	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.S256F(11)|p.S256Y(5)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GAAGACAAGTCCTGGCGCGTC	0.617			Mis		clear cell ovarian carcinoma																																	ENST00000322088.6				Dom?	yes		19	19q13.41	5518	Mis	"""protein phosphatase 2, regulatory subunit A, alpha"""			E			clear cell ovarian carcinoma		16	Substitution - Missense(16)	p.S256F(11)|p.S256Y(5)	endometrium(15)|ovary(1)	NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135						c.(766-768)tCc>tAc		protein phosphatase 2, regulatory subunit A, alpha							43.0	39.0	41.0					19																	52716323		2203	4300	6503	SO:0001583	missense	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52716323C>A		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.767C>A	19.37:g.52716323C>A	ENSP00000324804:p.Ser256Tyr					PPP2R1A_ENST00000444322.2_Missense_Mutation_p.S201Y|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.S77Y	p.S256Y	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	6	825	+			256			PP2A subunit B binding.|Polyoma small and medium T antigens Binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.767C>A	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.581561	0.86748	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.36878	1.23;1.23	4.48	4.48	0.54585	Armadillo-like helical (1);Armadillo-type fold (1);	0.105490	0.41001	D	0.000967	T	0.69753	0.3146	H	0.94542	3.55	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.992;0.992	T	0.79401	-0.1819	10	0.87932	D	0	-23.4629	15.0763	0.72080	0.0:1.0:0.0:0.0	.	201;256;256	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	Y	246;176;256;201	ENSP00000324804:S256Y;ENSP00000415067:S201Y	ENSP00000324804:S256Y	S	+	2	0	PPP2R1A	57408135	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	5.017000	0.64047	2.490000	0.84030	0.655000	0.94253	TCC		0.617	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		14	36	1	0	1.5842e-08	1	1.68882e-08	14	36				
RGS7	6000	broad.mit.edu	37	1	241094033	241094033	+	Silent	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr1:241094033C>T	ENST00000407727.1	-	5	368	c.369G>A	c.(367-369)ccG>ccA	p.P123P	RGS7_ENST00000366564.1_Silent_p.P123P|RGS7_ENST00000446183.2_Silent_p.P39P|RGS7_ENST00000366565.1_Silent_p.P123P|RGS7_ENST00000366563.1_Silent_p.P123P|RGS7_ENST00000331110.7_Silent_p.P97P|RGS7_ENST00000366562.4_Silent_p.P123P|RGS7_ENST00000401882.1_Intron|RGS7_ENST00000348120.2_Intron			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	123					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			CTGTGTTTTCCGGCTCCCAAC	0.388																																						ENST00000366565.1																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(367-369)ccG>ccA		regulator of G-protein signaling 7							127.0	141.0	136.0					1																	241094033		2203	4300	6503	SO:0001819	synonymous_variant	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:241094033C>T	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.369G>A	1.37:g.241094033C>T						RGS7_ENST00000366563.1_Silent_p.P123P|RGS7_ENST00000407727.1_Silent_p.P123P|RGS7_ENST00000401882.1_Intron|RGS7_ENST00000348120.2_Intron|RGS7_ENST00000366562.4_Silent_p.P123P|RGS7_ENST00000366564.1_Silent_p.P123P|RGS7_ENST00000446183.2_Silent_p.P39P|RGS7_ENST00000331110.7_Silent_p.P97P	p.P123P	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		6	750	-		all_cancers(173;0.0131)	123					Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Silent	SNP	ENST00000407727.1	37	c.369G>A																																																																																					0.388	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		115	41	0	0	0	1	0	115	41				
SEMA5A	9037	broad.mit.edu	37	5	9052093	9052093	+	Missense_Mutation	SNP	C	C	T	rs545915512		TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr5:9052093C>T	ENST00000382496.5	-	20	3402	c.2737G>A	c.(2737-2739)Gtc>Atc	p.V913I	MIR4636_ENST00000582271.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	913	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CGGACTTGGACGCCAGAGGCT	0.602													C|||	1	0.000199681	0.0	0.0014	5008	,	,		12245	0.0		0.0	False		,,,				2504	0.0					ENST00000382496.5																			0				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						c.(2737-2739)Gtc>Atc		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A							32.0	35.0	34.0					5																	9052093		2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9052093C>T	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.2737G>A	5.37:g.9052093C>T	ENSP00000371936:p.Val913Ile						p.V913I	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN			20	3402	-			913			TSP type-1 7.		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.2737G>A	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	C	0.441	-0.898327	0.02472	.	.	ENSG00000112902	ENST00000382496	T	0.50548	0.74	5.12	0.544	0.17185	.	0.852047	0.10742	N	0.639269	T	0.26376	0.0644	N	0.17723	0.515	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.21724	-1.0237	10	0.18710	T	0.47	.	4.5587	0.12149	0.1498:0.425:0.0:0.4252	.	913	Q13591	SEM5A_HUMAN	I	913	ENSP00000371936:V913I	ENSP00000371936:V913I	V	-	1	0	SEMA5A	9105093	0.000000	0.05858	0.049000	0.19019	0.002000	0.02628	-0.780000	0.04654	0.097000	0.17492	-0.140000	0.14226	GTC		0.602	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			6	16	0	0	0	1	0	6	16				
ESPNP	284729	broad.mit.edu	37	1	17018929	17018941	+	RNA	DEL	CGGGGAGGCGCGG	CGGGGAGGCGCGG	-	rs577845383|rs540299613|rs2610627|rs61773361	byFrequency	TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr1:17018929_17018941delCGGGGAGGCGCGG	ENST00000492551.1	-	0	1938					NR_026567.1				espin pseudogene																		GTCTGAGATCCGGGGAGGCGCggcggggaggcg	0.723																																						ENST00000492551.1																			0																																																			0							g.chr1:17018929_17018941delCGGGGAGGCGCGG	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17018929_17018941delCGGGGAGGCGCGG								NR_026567.1						0	1938	-									RNA	DEL	ENST00000492551.1	37																																																																																						0.723	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			3	3						3	3	---	---	---	---
CROCC	9696	broad.mit.edu	37	1	17215847	17215847	+	lincRNA	DEL	G	G	-			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr1:17215847delG	ENST00000422124.1	-	0	21																											CGCAAAGAACGGGAAGAACCA	0.667																																						ENST00000422124.1																			0																																																			0							g.chr1:17215847delG																													1.37:g.17215847delG														0	21	-									RNA	DEL	ENST00000422124.1	37																																																																																						0.667	RP11-108M9.4-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000006260.1			2	4						2	4	---	---	---	---
WDR63	126820	broad.mit.edu	37	1	85555917	85555918	+	Splice_Site	INS	-	-	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr1:85555917_85555918insA	ENST00000294664.6	+	8	1037		c.e8+2		WDR63_ENST00000370596.1_Intron|WDR63_ENST00000326813.8_Intron	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63											NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		ATCCATAAGGTAAAAAATTGCa	0.267																																						ENST00000294664.6																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36						c.e8+2		WD repeat domain 63																																				SO:0001630	splice_region_variant	126820							g.chr1:85555917_85555918insA		CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"""WD repeat domain containing"""	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.857+2->A	1.37:g.85555923_85555923dupA						WDR63_ENST00000326813.8_Intron|WDR63_ENST00000370596.1_Intron		NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)	8	1037	+								A8K988|Q96L72|Q96NU4	Splice_Site	INS	ENST00000294664.6	37		CCDS702.1																																																																																				0.267	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172	Intron	17	16						17	16	---	---	---	---
RP11-417J8.2	0	broad.mit.edu	37	1	142587613	142587613	+	lincRNA	DEL	A	A	-			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr1:142587613delA	ENST00000415979.2	-	0	167																											gtcatcttttaaaaaaaatag	0.378																																						ENST00000415979.2																			0																																																			0							g.chr1:142587613delA																													1.37:g.142587613delA														0	167	-									RNA	DEL	ENST00000415979.2	37																																																																																						0.378	RP11-417J8.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037256.2			2	4						2	4	---	---	---	---
LOC101927209	101927209	broad.mit.edu	37	1	142672518	142672519	+	lincRNA	DEL	AT	AT	-	rs377741124		TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr1:142672518_142672519delAT	ENST00000610091.1	-	0	3560																											ggcctcactgatcaggTTCCAC	0.584																																						ENST00000369381.2																			0																																																			0							g.chr1:142672518_142672519delAT																													1.37:g.142672518_142672519delAT														0	2507	-									RNA	DEL	ENST00000610091.1	37																																																																																						0.584	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			7	4						7	4	---	---	---	---
SRGAP2B	647135	broad.mit.edu	37	1	144011657	144011658	+	RNA	INS	-	-	G	rs66670828|rs11459943	byFrequency	TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr1:144011657_144011658insG	ENST00000467933.1	+	0	915							P0DMP2	SRG2B_HUMAN	SLIT-ROBO Rho GTPase activating protein 2B						nervous system development (GO:0007399)												GGttcttttttttgttgtttgt	0.52													|||unknown(STR3?)	2483	0.495807	0.4962	0.4986	5008	,	,		53201	0.497		0.494	False		,,,				2504	0.4939					ENST00000467933.1																			0																																																			0							g.chr1:144011657_144011658insG		CCDS72854.1	1q21.1	2014-07-10	2013-02-13	2012-05-08	ENSG00000196369	ENSG00000196369			35237	protein-coding gene	gene with protein product		614703	"""SLIT-ROBO Rho GTPase activating protein 2 pseudogene 2"", ""SLIT-ROBO Rho GTPase activating protein 2B (pseudogene)"""	SRGAP2P2		22559943, 22559944	Standard	NM_001271870		Approved		uc010oxm.1	P0DMP2	OTTHUMG00000041442		1.37:g.144011657_144011658insG														0	915	+									RNA	INS	ENST00000467933.1	37																																																																																						0.520	SRGAP2B-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352915.1	NM_001271870		6	8						6	8	---	---	---	---
SEC22B	9554	broad.mit.edu	37	1	145109259	145109260	+	RNA	INS	-	-	A	rs61810755|rs11386827		TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr1:145109259_145109260insA	ENST00000453618.1	+	0	512							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											cactccagcccgggggcagagc	0.48																																						ENST00000453618.1																			0													SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)																																						9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145109259_145109260insA	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145109259_145109260insA										O75396	SC22B_HUMAN			0	512	+								A8K1G0	RNA	INS	ENST00000453618.1	37																																																																																						0.480	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		2	4						2	4	---	---	---	---
FER1L5	90342	broad.mit.edu	37	2	97355483	97355483	+	RNA	DEL	A	A	-			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr2:97355483delA	ENST00000457909.1	+	0	1087							A0AVI2	FR1L5_HUMAN	fer-1-like family member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						CCGCCATCCCAAACACAGACG	0.642																																						ENST00000457909.1																			0				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38								fer-1-like 5 (C. elegans)							17.0	25.0	23.0					2																	97355483		692	1591	2283			90342					integral to membrane		g.chr2:97355483delA	BC126368		2q11.2	2014-06-27	2014-06-27		ENSG00000249715	ENSG00000249715			19044	protein-coding gene	gene with protein product			"""fer-1-like 5 (C. elegans)"""				Standard	XM_006712826		Approved	DKFZp434I0121	uc010fia.3	A0AVI2	OTTHUMG00000154929		2.37:g.97355483delA										A0AVI2	FR1L5_HUMAN			0	1087	+								Q17RH2|Q6ZU24	RNA	DEL	ENST00000457909.1	37																																																																																						0.642	FER1L5-001	KNOWN	basic|exp_conf	retained_intron	pseudogene	OTTHUMT00000339030.1	NM_001077400		2	4						2	4	---	---	---	---
LINC01237	101927289	broad.mit.edu	37	2	242931905	242931906	+	RNA	INS	-	-	T	rs140412672|rs369993555		TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr2:242931905_242931906insT	ENST00000415434.1	+	0	310																											ccatccatccaccatccattat	0.505																																						ENST00000415434.1																			0																																																			0							g.chr2:242931905_242931906insT																													2.37:g.242931905_242931906insT														0	310	+									RNA	INS	ENST00000415434.1	37																																																																																						0.505	AC131097.3-003	KNOWN	basic	antisense	antisense	OTTHUMT00000322318.1			3	4						3	4	---	---	---	---
CDH6	1004	broad.mit.edu	37	5	31193743	31193743	+	5'Flank	DEL	G	G	-			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr5:31193743delG	ENST00000265071.2	+	0	0				RP11-152K4.2_ENST00000523584.1_RNA|CDH6_ENST00000514738.1_5'Flank	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)						adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GGGGGCGGGCGGGGGCAGGCA	0.567																																						ENST00000523584.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr5:31193743delG	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673		5.37:g.31193743delG	Exception_encountered													0	125	-								A8K5H5|Q9BWS0	RNA	DEL	ENST00000265071.2	37		CCDS3894.1																																																																																				0.567	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		2	4						2	4	---	---	---	---
LOC100653061	100653061	broad.mit.edu	37	5	34189309	34189310	+	RNA	INS	-	-	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr5:34189309_34189310insT	ENST00000514048.1	-	0	43																											cacccggccTCttttttttctt	0.515																																						ENST00000514048.1																			0																																																			0							g.chr5:34189309_34189310insT																													5.37:g.34189317_34189317dupT														0	43	-									RNA	INS	ENST00000514048.1	37																																																																																						0.515	RP11-1023L17.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000367775.1			2	4						2	4	---	---	---	---
NNT-AS1	100652772	broad.mit.edu	37	5	43588182	43588183	+	RNA	DEL	AA	AA	-			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr5:43588182_43588183delAA	ENST00000506247.1	-	0	1158				NNT-AS1_ENST00000515466.1_RNA|NNT-AS1_ENST00000503484.1_RNA|NNT-AS1_ENST00000606697.1_RNA|NNT-AS1_ENST00000513560.2_RNA|NNT-AS1_ENST00000500258.2_RNA					NNT antisense RNA 1																		actccgtctcaaaaaaaaaaaa	0.53																																						ENST00000513560.2																			0																																																			0							g.chr5:43588182_43588183delAA			5p12	2013-07-30			ENSG00000248092	ENSG00000248092		"""Long non-coding RNAs"""	49005	non-coding RNA	RNA, long non-coding							Standard	NR_073113		Approved				OTTHUMG00000162220		5.37:g.43588192_43588193delAA						RP11-159F24.1_ENST00000503484.1_RNA|RP11-159F24.1_ENST00000500258.2_RNA|RP11-159F24.1_ENST00000515466.1_RNA|RP11-159F24.1_ENST00000606697.1_RNA		NR_073113.1						0	327	-									RNA	DEL	ENST00000506247.1	37																																																																																						0.530	NNT-AS1-002	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000367957.1			2	4						2	4	---	---	---	---
RP11-1252I4.2	0	broad.mit.edu	37	5	177406586	177406587	+	RNA	DEL	GA	GA	-	rs200642024|rs62635537		TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr5:177406586_177406587delGA	ENST00000511650.1	+	0	145																											gtgtgtgtgtgAGAAAGACAGA	0.525																																						ENST00000511650.1																			0																																																			0							g.chr5:177406586_177406587delGA																													5.37:g.177406588_177406589delGA														0	145	+									RNA	DEL	ENST00000511650.1	37																																																																																						0.525	RP11-1252I4.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000373553.1			2	4						2	4	---	---	---	---
LOC101928516	101928516	broad.mit.edu	37	6	75339741	75339742	+	lincRNA	INS	-	-	CTTTTTCTTTC	rs111286708|rs372581061	byFrequency	TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr6:75339741_75339742insCTTTTTCTTTC	ENST00000435946.1	+	0	193				RP11-554D15.3_ENST00000432484.2_lincRNA																							ctttctcttttctttctttctt	0.48														3388	0.676518	0.9569	0.5893	5008	,	,		12988	0.5784		0.6352	False		,,,				2504	0.5031					ENST00000435946.1																			0																																																			0							g.chr6:75339741_75339742insCTTTTTCTTTC																													6.37:g.75339741_75339742insCTTTTTCTTTC						RP11-554D15.3_ENST00000432484.2_lincRNA								0	193	+									RNA	INS	ENST00000435946.1	37																																																																																						0.480	RP11-554D15.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000041234.1			5	3						5	3	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152706811	152706812	+	Frame_Shift_Ins	INS	-	-	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr6:152706811_152706812insA	ENST00000367255.5	-	55	9250_9251	c.8649_8650insT	c.(8647-8652)attaagfs	p.K2884fs	SYNE1_ENST00000341594.5_Frame_Shift_Ins_p.K2923fs|SYNE1_ENST00000423061.1_Frame_Shift_Ins_p.K2891fs|SYNE1_ENST00000448038.1_Frame_Shift_Ins_p.K2891fs|SYNE1_ENST00000265368.4_Frame_Shift_Ins_p.K2884fs	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2884					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)		TTCCTGACCTTAATTTTTGATA	0.356										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.(8647-8652)ataggafs		spectrin repeat containing, nuclear envelope 1																																				SO:0001589	frameshift_variant	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.chr6:152706811_152706812insA	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.8650dupT	6.37:g.152706813_152706813dupA	ENSP00000356224:p.Lys2884fs	HNSCC(10;0.0054)				SYNE1_ENST00000423061.1_Frame_Shift_Ins_p.G2891fs|SYNE1_ENST00000265368.4_Frame_Shift_Ins_p.G2884fs|SYNE1_ENST00000341594.5_Frame_Shift_Ins_p.G2923fs|SYNE1_ENST00000448038.1_Frame_Shift_Ins_p.G2891fs	p.G2884fs	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	55	9250_9251	-		Ovarian(120;0.0955)	2884					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Frame_Shift_Ins	INS	ENST00000367255.5	37	c.8649_8650insT	CCDS5236.2																																																																																				0.356	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		24	44						24	44	---	---	---	---
LOC440896	440896	broad.mit.edu	37	9	70938993	70938994	+	lincRNA	INS	-	-	C			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr9:70938993_70938994insC	ENST00000429953.2	+	0	1335																											GGGGGGTGCCTCCCCACCTGCT	0.718																																						ENST00000429953.2																			0																																																			0							g.chr9:70938993_70938994insC																													9.37:g.70938997_70938997dupC														0	1335	+									RNA	INS	ENST00000429953.2	37																																																																																						0.718	RP11-561O23.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000052541.2			3	4						3	4	---	---	---	---
RPLP0P2	113157	broad.mit.edu	37	11	61396132	61396132	+	RNA	DEL	T	T	-			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr11:61396132delT	ENST00000496593.1	+	0	236					NR_002775.2				ribosomal protein, large, P0 pseudogene 2																		tccactgctctttccactgcT	0.532											OREG0021007	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000496593.1																			0																																																			0							g.chr11:61396132delT	BC010523		11q12.2	2014-08-07			ENSG00000243742	ENSG00000243742		"""L ribosomal proteins"""	17960	pseudogene	pseudogene						19123937, 25089627	Standard	NR_002775		Approved		uc001nrz.1		OTTHUMG00000158396		11.37:g.61396132delT			OREG0021007	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1053			NR_002775.2						0	236	+									RNA	DEL	ENST00000496593.1	37																																																																																						0.532	RPLP0P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000350911.1	NR_002775		2	4						2	4	---	---	---	---
C11orf95	65998	broad.mit.edu	37	11	63533335	63533337	+	lincRNA	DEL	TCC	TCC	-	rs373116664		TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr11:63533335_63533337delTCC	ENST00000546282.2	-	0	738				C11orf95_ENST00000433688.1_lincRNA																							ctcctcttcttcctcctcctcct	0.67																																						ENST00000433688.1																			0													chromosome 11 open reading frame 95				177,2927		13,151,1388						-8.9	0.0			19	448,6300		26,396,2952	no	coding	C11orf95	NM_001144936.1		39,547,4340	A1A1,A1R,RR		6.639,5.7023,6.3439				625,9227						65998					intracellular	zinc ion binding	g.chr11:63533335_63533337delTCC																													11.37:g.63533344_63533346delTCC										C9JLR9	CK095_HUMAN			0	597_599	-									RNA	DEL	ENST00000546282.2	37																																																																																						0.670	RP11-466C23.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000396567.2			2	4						2	4	---	---	---	---
EMG1	10436	broad.mit.edu	37	12	7080212	7080213	+	Splice_Site	INS	-	-	C	rs11428482|rs374779752|rs17857448		TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr12:7080212_7080213insC	ENST00000261406.6	+	2	267_268	c.124_125insC	c.(124-126)ttt>tCtt	p.F42fs	PHB2_ENST00000542912.1_5'Flank|PHB2_ENST00000544134.1_5'Flank|PHB2_ENST00000399433.2_5'Flank|PHB2_ENST00000546111.1_5'Flank|EMG1_ENST00000546220.1_3'UTR|PHB2_ENST00000440277.1_5'Flank|PHB2_ENST00000535923.1_5'Flank	NM_006331.7	NP_006322.4			EMG1 N1-specific pseudouridine methyltransferase																		GAGGCCGTAGTTTATTGTGGTG	0.569																																						ENST00000546220.1																			0													EMG1 N1-specific pseudouridine methyltransferase				3746,4		1873,0,2						5.4	1.0		dbSNP_120	28	7902,2		3951,0,1	no	frameshift	EMG1	NM_006331.7		5824,0,3	A1A1,A1R,RR		0.0253,0.1067,0.0515				11648,6				SO:0001630	splice_region_variant	10436				ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding	g.chr12:7080212_7080213insC	U72514	CCDS73430.1	12p13	2013-05-22	2013-05-22			ENSG00000126749			16912	protein-coding gene	gene with protein product		611531	"""EMG1 nucleolar protein homolog (S. cerevisiae)"""			9074930, 11935223, 19463982	Standard	NM_006331		Approved	C2F, NEP1, Grcc2f	uc001qsh.4	Q92979		ENST00000261406.6:c.124-1->C	12.37:g.7080212_7080213insC						U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA				Q92979	NEP1_HUMAN			0	157_158	+									RNA	INS	ENST00000261406.6	37																																																																																						0.569	EMG1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006331	Frame_Shift_Ins	7	28						7	28	---	---	---	---
FAIM2	23017	broad.mit.edu	37	12	50258497	50258498	+	IGR	DEL	GT	GT	-	rs150014884		TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr12:50258497_50258498delGT	ENST00000320634.3	-	0	4654				RP11-70F11.7_ENST00000547902.1_lincRNA	NM_012306.3	NP_036438.2	Q9BWQ8	LFG2_HUMAN	Fas apoptotic inhibitory molecule 2						apoptotic process (GO:0006915)|cerebellar granular layer development (GO:0021681)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum development (GO:0021549)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of neuron apoptotic process (GO:0043524)|regulation of neuron apoptotic process (GO:0043523)|response to ischemia (GO:0002931)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|postsynaptic membrane (GO:0045211)				endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2)	14						GCCATCCGTGgtgtgtgtgtgt	0.53																																						ENST00000547902.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr12:50258497_50258498delGT	AB023167	CCDS8791.1	12q13	2010-03-18				ENSG00000135472			17067	protein-coding gene	gene with protein product	"""transmembrane BAX inhibitor motif containing 2"""	604306				10231032, 10535980	Standard	NM_012306		Approved	KIAA0950, LFG, NMP35, LIFEGUARD, TMBIM2, LFG2	uc001rvj.2	Q9BWQ8	OTTHUMG00000169808		12.37:g.50258507_50258508delGT														0	170	+								A8K1W6|B3KR08|Q9UJY9|Q9Y2F7	RNA	DEL	ENST00000320634.3	37		CCDS8791.1																																																																																				0.530	FAIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405984.1	NM_012306		2	4						2	4	---	---	---	---
LINC01481	101928062	broad.mit.edu	37	12	70508088	70508089	+	RNA	INS	-	-	A	rs560309958	byFrequency	TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr12:70508088_70508089insA	ENST00000549419.1	-	0	144																											ctaaaaatgttaaaaaaaagac	0.248																																						ENST00000549419.1																			0																																																			0							g.chr12:70508088_70508089insA																													12.37:g.70508096_70508096dupA														0	144	-									RNA	INS	ENST00000549419.1	37																																																																																						0.248	RP11-611E13.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000404075.1			3	3						3	3	---	---	---	---
SMIM2-AS1	101929212	broad.mit.edu	37	13	44752609	44752609	+	RNA	DEL	T	T	-			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr13:44752609delT	ENST00000437867.1	+	0	219									SMIM2 antisense RNA 1																		AGGCATACTCtttttttttga	0.522																																						ENST00000437867.1																			0																																																			0							g.chr13:44752609delT			13q14.11	2014-01-06	2012-08-15	2012-07-11	ENSG00000227258	ENSG00000227258		"""Long non-coding RNAs"""	42674	non-coding RNA	RNA, long non-coding			"""C13orf44 antisense RNA 1 (non-protein coding)"", ""SMIM2 antisense RNA 1 (non-protein coding)"""	C13orf44-AS1			Standard	NR_104064		Approved				OTTHUMG00000016829		13.37:g.44752609delT														0	219	+									RNA	DEL	ENST00000437867.1	37																																																																																						0.522	SMIM2-AS1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000044732.1			2	4						2	4	---	---	---	---
RB1	5925	broad.mit.edu	37	13	49037935	49037943	+	In_Frame_Del	DEL	AACAGCATA	AACAGCATA	-			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr13:49037935_49037943delAACAGCATA	ENST00000267163.4	+	21	2313_2321	c.2175_2183delAACAGCATA	c.(2173-2184)gtaacagcatac>gtc	p.TAY726del		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	726	Domain B.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(10)|p.I703_E737del(2)|p.Y728C(1)|p.C712_A727del(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AAATCATTGTAACAGCATACAAGGATCTT	0.301		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												ENST00000267163.4		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"""D, Mis, N, F, S"""	retinoblastoma gene			"""L, E, M, O"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""		29	Whole gene deletion(15)|Unknown(10)|Deletion - In frame(3)|Substitution - Missense(1)	p.0?(15)|p.?(10)|p.I703_E737del(2)|p.Y728C(1)|p.C712_A727del(1)	bone(10)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|lung(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)|ovary(1)|prostate(1)|liver(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496	GRCh37	CD941780	RB1	D		c.(2173-2184)gtc>gt		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)																																			SO:0001651	inframe_deletion	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:49037935_49037943delAACAGCATA	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2175_2183delAACAGCATA	13.37:g.49037935_49037943delAACAGCATA	ENSP00000267163:p.Thr726_Tyr728del	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.VTAY725del	NM_000321.2	NP_000312.2	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	21	2313_2321	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	725			Domain B.|Pocket; binds T and E1A.		A8K5E3|P78499|Q5VW46|Q8IZL4	In_Frame_Del	DEL	ENST00000267163.4	37	c.2175_2183delAACAGCATA	CCDS31973.1																																																																																				0.301	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			28	3						28	3	---	---	---	---
RP11-146E13.4	0	broad.mit.edu	37	14	19818287	19818287	+	lincRNA	DEL	C	C	-	rs111887361|rs144661052		TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr14:19818287delC	ENST00000548109.1	+	0	72																											gcatgagacacgcaccaccac	0.453																																						ENST00000548109.1																			0																																																			0							g.chr14:19818287delC																													14.37:g.19818287delC														0	72	+									RNA	DEL	ENST00000548109.1	37																																																																																						0.453	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			4	4						4	4	---	---	---	---
TMEM63C	57156	broad.mit.edu	37	14	77648238	77648240	+	Splice_Site	DEL	GTG	GTG	-	rs35484514|rs397807935|rs397786063	byFrequency	TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr14:77648238_77648240delGTG	ENST00000298351.4	+	1	68		c.e1+1		RP11-463C8.4_ENST00000557752.1_Intron	NM_020431.2	NP_065164.2	Q9P1W3	CSC1_HUMAN	transmembrane protein 63C						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)	integral component of membrane (GO:0016021)	calcium activated cation channel activity (GO:0005227)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		GGACGCAAATGTGGTGAGCACGC	0.734														2002	0.39976	0.1679	0.2968	5008	,	,		13418	0.6587		0.3777	False		,,,				2504	0.5419					ENST00000298351.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23						c.e1+1		transmembrane protein 63C																																				SO:0001630	splice_region_variant	57156					integral to membrane		g.chr14:77648238_77648240delGTG		CCDS45141.1	14q24.3	2014-05-30	2005-07-25	2005-07-25	ENSG00000165548	ENSG00000165548			23787	protein-coding gene	gene with protein product	"""calcium permeable stress-gated cation channel 1 homolog (Arabidopsis)"""		"""chromosome 14 open reading frame 171"""	C14orf171		24503647	Standard	NM_020431		Approved	DKFZp434P0111, CSC1, hsCSC1	uc001xtf.2	Q9P1W3	OTTHUMG00000171557	ENST00000298351.4:c.-77+1GTG>-	14.37:g.77648241_77648243delGTG						RP11-463C8.4_ENST00000557752.1_Intron		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)	1	68	+								B2RN22|B3KWJ5|Q86TS3|Q86TS4|Q9NSQ4|Q9P1W1	Splice_Site	DEL	ENST00000298351.4	37		CCDS45141.1																																																																																				0.734	TMEM63C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414193.1		Intron	5	2						5	2	---	---	---	---
ZNF839	55778	broad.mit.edu	37	14	102807718	102807718	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr14:102807718delG	ENST00000558850.1	+	8	1988	c.1638delG	c.(1636-1638)acgfs	p.T547fs	ZNF839_ENST00000559185.1_Frame_Shift_Del_p.T547fs|ZNF839_ENST00000420933.2_3'UTR|AL137229.1_ENST00000577622.1_RNA|ZNF839_ENST00000262236.5_Frame_Shift_Del_p.T549fs|ZNF839_ENST00000442396.2_Frame_Shift_Del_p.T663fs	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839	547							metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GCCATACAACGACGGTTTCTG	0.527																																						ENST00000262236.5																			0				breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1642-1644)acfs		zinc finger protein 839							103.0	100.0	101.0					14																	102807718		1981	4169	6150	SO:0001589	frameshift_variant	55778					intracellular	zinc ion binding	g.chr14:102807718delG	AK093342	CCDS45164.1, CCDS58336.1	14q32.32	2010-05-06	2008-06-23	2008-06-23	ENSG00000022976	ENSG00000022976			20345	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 131"""	C14orf131			Standard	NM_018335		Approved		uc010awk.2	A8K0R7		ENST00000558850.1:c.1638delG	14.37:g.102807718delG	ENSP00000453363:p.Thr547fs					ZNF839_ENST00000420933.2_3'UTR|ZNF839_ENST00000558850.1_Frame_Shift_Del_p.T547fs|ZNF839_ENST00000442396.2_Frame_Shift_Del_p.T663fs|ZNF839_ENST00000559185.1_Frame_Shift_Del_p.T547fs	p.T549fs	NM_018335.4	NP_060805.3	A8K0R7	ZN839_HUMAN			8	1999	+			547					B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Frame_Shift_Del	DEL	ENST00000558850.1	37	c.1644delG	CCDS58336.1																																																																																				0.527	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415492.2	NM_018335		22	51						22	51	---	---	---	---
CTD-2134A5.4	0	broad.mit.edu	37	14	104338382	104338382	+	lincRNA	DEL	G	G	-			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr14:104338382delG	ENST00000555967.1	-	0	261																											GGCGTGGTATGGGGGCGTGGC	0.711																																						ENST00000555967.1																			0																																																			0							g.chr14:104338382delG																													14.37:g.104338382delG														0	261	-									RNA	DEL	ENST00000555967.1	37																																																																																						0.711	CTD-2134A5.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000414608.1			2	4						2	4	---	---	---	---
RP11-420N3.2	0	broad.mit.edu	37	16	5572992	5572993	+	RNA	INS	-	-	A	rs397739298|rs57131295	byFrequency	TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr16:5572992_5572993insA	ENST00000569895.1	+	0	343																											taaagtgctgcaaaatcatggt	0.441													AAAAA|AAAA|AAAAA|deletion	4346	0.867812	0.9463	0.8156	5008	,	,		21100	0.9891		0.6928	False		,,,				2504	0.8538					ENST00000569895.1																			0																																																			0							g.chr16:5572992_5572993insA																													16.37:g.5572996_5572996dupA														0	343	+									RNA	INS	ENST00000569895.1	37																																																																																						0.441	RP11-420N3.2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000435404.2			2	4						2	4	---	---	---	---
CTCF	10664	broad.mit.edu	37	16	67645112	67645115	+	Frame_Shift_Del	DEL	TTGC	TTGC	-			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr16:67645112_67645115delTTGC	ENST00000264010.4	+	3	821_824	c.377_380delTTGC	c.(376-381)gttgctfs	p.VA126fs	CTCF_ENST00000401394.1_Intron	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	126					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		ACTGTACCTGTTGCTACCACTTCA	0.436																																					Colon(175;1200 1966 6945 23069 27405)	ENST00000264010.4																			0				breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79						c.(376-381)gtfs		CCCTC-binding factor (zinc finger protein)																																				SO:0001589	frameshift_variant	10664				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:67645112_67645115delTTGC	U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.377_380delTTGC	16.37:g.67645112_67645115delTTGC	ENSP00000264010:p.Val126fs					CTCF_ENST00000401394.1_Intron	p.VA126fs	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)	3	821_824	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	126					B5MC38|Q53XI7|Q59EL8	Frame_Shift_Del	DEL	ENST00000264010.4	37	c.377_380delTTGC	CCDS10841.1																																																																																				0.436	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565		38	48						38	48	---	---	---	---
RP11-252A24.2	0	broad.mit.edu	37	16	74394379	74394380	+	RNA	INS	-	-	A	rs142790741	byFrequency	TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr16:74394379_74394380insA	ENST00000429810.2	-	0	435																											TAGTCATCCTTAAACAAAATTC	0.347													|||unknown(NO_COVERAGE)	1085	0.216653	0.2474	0.1888	5008	,	,		27432	0.1379		0.2604	False		,,,				2504	0.2311					ENST00000429810.2																			0																																																			0							g.chr16:74394379_74394380insA																													16.37:g.74394382_74394382dupA														0	435	-									RNA	INS	ENST00000429810.2	37																																																																																						0.347	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			2	4						2	4	---	---	---	---
RP11-252A24.3	0	broad.mit.edu	37	16	74398797	74398797	+	lincRNA	DEL	G	G	-	rs555681075		TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr16:74398797delG	ENST00000563701.1	+	0	0				RP11-252A24.2_ENST00000429810.2_RNA																							CAAAGAAGATGGGGGGAAAAA	0.358																																						ENST00000429810.2																			0																																																			0							g.chr16:74398797delG																													16.37:g.74398797delG														0	176	-									RNA	DEL	ENST00000563701.1	37																																																																																						0.358	RP11-252A24.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000434685.1			2	4						2	4	---	---	---	---
LOC101927571	101927571	broad.mit.edu	37	18	20406456	20406457	+	RNA	DEL	GT	GT	-	rs538472546|rs368738939		TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr18:20406456_20406457delGT	ENST00000583086.1	-	0	84				RP11-739L10.1_ENST00000578831.1_RNA																							CAATGTAGGGgtgtgtgtgtgt	0.386																																						ENST00000583086.1																			0																																																			0							g.chr18:20406456_20406457delGT																													18.37:g.20406466_20406467delGT						RP11-739L10.1_ENST00000578831.1_RNA								0	84	-									RNA	DEL	ENST00000583086.1	37																																																																																						0.386	RP11-370A5.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000446416.1			3	3						3	3	---	---	---	---
LOC105372038	105372038	broad.mit.edu	37	18	25008614	25008614	+	lincRNA	DEL	C	C	-	rs398032276|rs36110195	byFrequency	TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr18:25008614delC	ENST00000584546.1	-	0	447																											agtgcatcatccccagaccaa	0.542													CCCC|CCCC|CCC|deletion	2538	0.506789	0.5295	0.5605	5008	,	,		21078	0.4286		0.4473	False		,,,				2504	0.5798					ENST00000584546.1																			0																																																			0							g.chr18:25008614delC																													18.37:g.25008614delC														0	447	-									RNA	DEL	ENST00000584546.1	37																																																																																						0.542	RP11-739N10.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000447183.1			3	3						3	3	---	---	---	---
MIR646HG	284757	broad.mit.edu	37	20	58889426	58889429	+	lincRNA	DEL	ATCC	ATCC	-			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr20:58889426_58889429delATCC	ENST00000432910.1	+	0	332					NR_046099.1																						ccatcctgctatccatccatccat	0.49																																						ENST00000432910.1																			0																																																			0							g.chr20:58889426_58889429delATCC																													20.37:g.58889434_58889437delATCC								NR_046099.1						0	332	+									RNA	DEL	ENST00000432910.1	37																																																																																						0.490	RP5-1043L13.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000079947.1			2	4						2	4	---	---	---	---
EP300	2033	broad.mit.edu	37	22	41489056	41489057	+	Frame_Shift_Ins	INS	-	-	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr22:41489056_41489057insA	ENST00000263253.7	+	1	1267_1268	c.48_49insA	c.(49-51)aaafs	p.K17fs	MIR1281_ENST00000408233.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	17	Interaction with ALX1.|Interaction with RORA.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.K17E(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CCAAGCGGCCTAAACTCTCATC	0.55			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		1	Substitution - Missense(1)	p.K17E(1)	urinary_tract(1)	NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(46-51)ccaactfs		E1A binding protein p300																																				SO:0001589	frameshift_variant	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41489056_41489057insA	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.51dupA	22.37:g.41489059_41489059dupA	ENSP00000263253:p.Lys17fs						p.T17fs	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			1	1267_1268	+			17			Interaction with ALX1.		B1AKC2	Frame_Shift_Ins	INS	ENST00000263253.7	37	c.48_49insA	CCDS14010.1																																																																																				0.550	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		72	114						72	114	---	---	---	---
