#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
LAMA3	3909	broad.mit.edu	37	18	21513897	21513897	+	Nonsense_Mutation	SNP	C	C	T			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr18:21513897C>T	ENST00000313654.9	+	67	9101	c.8860C>T	c.(8860-8862)Cag>Tag	p.Q2954*	LAMA3_ENST00000269217.6_Nonsense_Mutation_p.Q1345*|LAMA3_ENST00000399516.3_Nonsense_Mutation_p.Q2898*|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Nonsense_Mutation_p.Q1289*	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2954					cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TCGTATCAACCAGGTAAGTGT	0.493																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(8860-8862)Cag>Tag		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						94.0	85.0	89.0					18																	21513897		2203	4300	6503	SO:0001587	stop_gained	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21513897C>T	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.8860C>T	18.37:g.21513897C>T	ENSP00000324532:p.Gln2954*					LAMA3_ENST00000269217.6_Nonsense_Mutation_p.Q1345*|LAMA3_ENST00000399516.3_Nonsense_Mutation_p.Q2898*|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Nonsense_Mutation_p.Q1289*	p.Q2954*	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			67	9101	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		2954					B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Nonsense_Mutation	SNP	ENST00000313654.9	37	c.8860C>T	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	C	47	13.451858	0.99743	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	.	.	.	6.07	0.524	0.17066	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.6112	0.28131	0.599:0.3195:0.0:0.0814	.	.	.	.	X	2954;2898;1345	.	ENSP00000269217:Q1345X	Q	+	1	0	LAMA3	19767895	0.023000	0.18921	0.465000	0.27155	0.011000	0.07611	0.239000	0.18023	0.395000	0.25257	0.655000	0.94253	CAG		0.493	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		11	60	0	0	0	1	0	11	60				
FAM111B	374393	broad.mit.edu	37	11	58893249	58893249	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr11:58893249G>C	ENST00000343597.3	+	4	1870	c.1679G>C	c.(1678-1680)gGa>gCa	p.G560A	FAM111B_ENST00000411426.1_Missense_Mutation_p.G530A|FAM111B_ENST00000529618.1_Missense_Mutation_p.G530A	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	560							catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						TTTCCTCCAGGACTATGGCGA	0.368																																						ENST00000343597.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						c.(1678-1680)gGa>gCa		family with sequence similarity 111, member B							110.0	103.0	106.0					11																	58893249		2201	4295	6496	SO:0001583	missense	374393						catalytic activity	g.chr11:58893249G>C	BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.1679G>C	11.37:g.58893249G>C	ENSP00000341565:p.Gly560Ala					FAM111B_ENST00000529618.1_Missense_Mutation_p.G530A|FAM111B_ENST00000411426.1_Missense_Mutation_p.G530A	p.G560A	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN			4	1870	+			560					B4E2G2|Q6P661	Missense_Mutation	SNP	ENST00000343597.3	37	c.1679G>C	CCDS7972.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.565657	0.45694	.	.	ENSG00000189057	ENST00000411426;ENST00000529618;ENST00000343597	T;T;T	0.37915	1.17;1.17;1.18	5.16	2.17	0.27698	Peptidase cysteine/serine, trypsin-like (1);	0.189752	0.31847	N	0.006965	T	0.43634	0.1256	L	0.46819	1.47	0.09310	N	1	D	0.56287	0.975	P	0.62184	0.899	T	0.14671	-1.0464	10	0.56958	D	0.05	.	6.3598	0.21422	0.1683:0.1493:0.6823:0.0	.	560	Q6SJ93	F111B_HUMAN	A	530;530;560	ENSP00000393855:G530A;ENSP00000432875:G530A;ENSP00000341565:G560A	ENSP00000341565:G560A	G	+	2	0	FAM111B	58649825	0.999000	0.42202	0.304000	0.25085	0.018000	0.09664	3.671000	0.54576	0.593000	0.29745	-0.136000	0.14681	GGA		0.368	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393974.1	NM_198947		12	119	0	0	0	1	0	12	119				
ACADVL	37	broad.mit.edu	37	17	7126073	7126073	+	Silent	SNP	G	G	A			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr17:7126073G>A	ENST00000356839.5	+	10	1145	c.966G>A	c.(964-966)gtG>gtA	p.V322V	ACADVL_ENST00000543245.2_Silent_p.V345V|ACADVL_ENST00000350303.5_Silent_p.V300V|MIR324_ENST00000362183.1_RNA	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain	322	Catalytic.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy derivation by oxidation of organic compounds (GO:0015980)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						CGGAGAACGTGCTGGGTGAGG	0.562																																						ENST00000356839.5																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						c.(964-966)gtG>gtA		acyl-CoA dehydrogenase, very long chain							138.0	123.0	128.0					17																	7126073		2203	4300	6503	SO:0001819	synonymous_variant	37				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial inner membrane|mitochondrial nucleoid	long-chain-acyl-CoA dehydrogenase activity	g.chr17:7126073G>A	BC012912	CCDS11090.1, CCDS42249.1, CCDS58509.1	17p13.1	2010-04-30	2010-04-30		ENSG00000072778	ENSG00000072778			92	protein-coding gene	gene with protein product		609575	"""acyl-Coenzyme A dehydrogenase, very long chain"""			8921384	Standard	NM_000018		Approved	VLCAD, LCACD, ACAD6	uc002gev.4	P49748	OTTHUMG00000102157	ENST00000356839.5:c.966G>A	17.37:g.7126073G>A						ACADVL_ENST00000543245.2_Silent_p.V345V|ACADVL_ENST00000350303.5_Silent_p.V300V	p.V322V	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN			10	1145	+			322			Catalytic.		B4DEB6|F5H2A9|O76056|Q8WUL0	Silent	SNP	ENST00000356839.5	37	c.966G>A	CCDS11090.1																																																																																				0.562	ACADVL-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220001.5	NM_000018		6	11	0	0	0	1	0	6	11				
SPAG17	200162	broad.mit.edu	37	1	118567994	118567994	+	Missense_Mutation	SNP	C	C	T	rs202113364		TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr1:118567994C>T	ENST00000336338.5	-	27	3841	c.3776G>A	c.(3775-3777)cGt>cAt	p.R1259H		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1259						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GTAGCTCTGACGGACCATGAT	0.483																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(3775-3777)cGt>cAt		sperm associated antigen 17		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	94.0	93.0	94.0		3776	5.7	1.0	1		94	0,8600		0,0,4300	no	missense	SPAG17	NM_206996.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	1259/2224	118567994	1,13005	2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118567994C>T		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.3776G>A	1.37:g.118567994C>T	ENSP00000337804:p.Arg1259His						p.R1259H	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	27	3841	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1259					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.3776G>A	CCDS899.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.890209	0.91889	2.27E-4	0.0	ENSG00000155761	ENST00000336338	T	0.37584	1.19	5.73	5.73	0.89815	.	0.261705	0.38217	N	0.001768	T	0.53222	0.1783	M	0.68952	2.095	0.36377	D	0.861694	D	0.89917	1.0	D	0.91635	0.999	T	0.57376	-0.7822	10	0.87932	D	0	.	17.6657	0.88202	0.0:1.0:0.0:0.0	.	1259	Q6Q759	SPG17_HUMAN	H	1259	ENSP00000337804:R1259H	ENSP00000337804:R1259H	R	-	2	0	SPAG17	118369517	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.413000	0.59795	2.711000	0.92665	0.655000	0.94253	CGT		0.483	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		4	96	0	0	0	1	0	4	96				
SNRNP48	154007	broad.mit.edu	37	6	7601689	7601689	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr6:7601689G>T	ENST00000342415.5	+	5	586	c.527G>T	c.(526-528)cGc>cTc	p.R176L		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	176					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						AAGAAAAAGCGCTCTGATTCT	0.388																																						ENST00000342415.5																			0				kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(526-528)cGc>cTc		small nuclear ribonucleoprotein 48kDa (U11/U12)							92.0	90.0	91.0					6																	7601689		2203	4300	6503	SO:0001583	missense	154007				mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding	g.chr6:7601689G>T	AK056796	CCDS4502.1	6p24.3	2011-10-11	2008-10-29	2008-10-29	ENSG00000168566	ENSG00000168566			21368	protein-coding gene	gene with protein product	"""U11/U12 snRNP 48K"""		"""chromosome 6 open reading frame 151"""	C6orf151		15146077	Standard	XR_427825		Approved	FLJ32234, dJ512B11.2, dJ336K20B.1	uc003mxr.3	Q6IEG0	OTTHUMG00000014213	ENST00000342415.5:c.527G>T	6.37:g.7601689G>T	ENSP00000339834:p.Arg176Leu						p.R176L	NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN			5	586	+			176					A8K8P4|Q14C91|Q5T339|Q5THM1|Q5THM2|Q96MK1	Missense_Mutation	SNP	ENST00000342415.5	37	c.527G>T	CCDS4502.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357034	0.82243	.	.	ENSG00000168566	ENST00000342415	T	0.34072	1.38	5.95	4.17	0.49024	.	0.322180	0.37437	N	0.002082	T	0.22475	0.0542	L	0.41710	1.295	0.30746	N	0.745682	D	0.63046	0.992	P	0.52267	0.694	T	0.09079	-1.0691	10	0.66056	D	0.02	-2.7689	7.8021	0.29180	0.2486:0.0:0.7514:0.0	.	176	Q6IEG0	SNR48_HUMAN	L	176	ENSP00000339834:R176L	ENSP00000339834:R176L	R	+	2	0	SNRNP48	7546688	1.000000	0.71417	0.994000	0.49952	0.985000	0.73830	2.210000	0.42816	0.858000	0.35431	0.491000	0.48974	CGC		0.388	SNRNP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039787.3	NM_152551		5	86	1	0	3.59834e-05	1	4.00569e-05	5	86				
PCDHB6	56130	broad.mit.edu	37	5	140530650	140530650	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr5:140530650G>C	ENST00000231136.1	+	1	812	c.812G>C	c.(811-813)gGa>gCa	p.G271A	PCDHB6_ENST00000543635.1_Missense_Mutation_p.G135A	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	271	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTAGATGCAGGATCGTTTGGG	0.498																																						ENST00000231136.1																			0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(811-813)gGa>gCa									69.0	72.0	71.0					5																	140530650		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140530650G>C	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.812G>C	5.37:g.140530650G>C	ENSP00000231136:p.Gly271Ala					PCDHB6_ENST00000543635.1_Missense_Mutation_p.G135A	p.G271A	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	812	+			271			Cadherin 3.		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.812G>C	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.431951	0.83776	.	.	ENSG00000113211	ENST00000543635;ENST00000231136;ENST00000542861	T;T	0.66815	-0.23;-0.23	4.85	4.85	0.62838	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.84520	0.5490	M	0.86864	2.845	0.53005	D	0.999961	D	0.89917	1.0	D	0.97110	1.0	D	0.87699	0.2559	9	0.87932	D	0	.	18.3285	0.90261	0.0:0.0:1.0:0.0	.	271	Q9Y5E3	PCDB6_HUMAN	A	135;271;56	ENSP00000438466:G135A;ENSP00000231136:G271A	ENSP00000231136:G271A	G	+	2	0	PCDHB6	140510834	1.000000	0.71417	0.953000	0.39169	0.954000	0.61252	7.976000	0.88070	2.394000	0.81467	0.561000	0.74099	GGA		0.498	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		5	67	0	0	0	1	0	5	67				
ALPPL2	251	broad.mit.edu	37	2	233272008	233272008	+	Missense_Mutation	SNP	C	C	G			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr2:233272008C>G	ENST00000295453.3	+	3	249	c.197C>G	c.(196-198)tCt>tGt	p.S66C		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	66					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	ATGGGGGTGTCTACGGTGACA	0.637																																						ENST00000295453.3																			0				breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13						c.(196-198)tCt>tGt		alkaline phosphatase, placental-like 2	Amifostine(DB01143)|Levamisole(DB00848)						94.0	93.0	93.0					2																	233272008		2203	4300	6503	SO:0001583	missense	251				phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233272008C>G	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.197C>G	2.37:g.233272008C>G	ENSP00000295453:p.Ser66Cys						p.S66C	NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	3	249	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	66					A8KAF2|Q16727|Q53S81|Q96CM1	Missense_Mutation	SNP	ENST00000295453.3	37	c.197C>G	CCDS2491.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.139786	0.37728	.	.	ENSG00000163286	ENST00000295453	D	0.97480	-4.4	1.98	1.98	0.26296	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.364082	0.32093	N	0.006593	D	0.98473	0.9491	M	0.93241	3.395	0.29753	N	0.836199	D	0.71674	0.998	D	0.65684	0.937	D	0.95017	0.8157	10	0.62326	D	0.03	.	12.9807	0.58562	0.0:1.0:0.0:0.0	.	66	P10696	PPBN_HUMAN	C	66	ENSP00000295453:S66C	ENSP00000295453:S66C	S	+	2	0	ALPPL2	232980252	0.993000	0.37304	0.837000	0.33122	0.599000	0.36880	5.296000	0.65698	1.410000	0.46936	0.205000	0.17691	TCT		0.637	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313		3	54	0	0	0	1	0	3	54				
ANKLE2	23141	broad.mit.edu	37	12	133304674	133304674	+	Silent	SNP	C	C	A			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr12:133304674C>A	ENST00000357997.5	-	12	2648	c.2559G>T	c.(2557-2559)ccG>ccT	p.P853P	ANKLE2_ENST00000542657.1_Silent_p.P208P|ANKLE2_ENST00000542282.1_Silent_p.P208P|ANKLE2_ENST00000539605.1_Silent_p.P791P|ANKLE2_ENST00000542374.1_5'UTR	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	853					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TGTGCACGGCCGGGAACTGAT	0.552																																						ENST00000539605.1																			0				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45						c.(2371-2373)ccG>ccT		ankyrin repeat and LEM domain containing 2							126.0	135.0	132.0					12																	133304674		1965	4134	6099	SO:0001819	synonymous_variant	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133304674C>A	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.2559G>T	12.37:g.133304674C>A						ANKLE2_ENST00000542657.1_Silent_p.P208P|ANKLE2_ENST00000542282.1_Silent_p.P208P|ANKLE2_ENST00000357997.5_Silent_p.P853P|ANKLE2_ENST00000542374.1_5'UTR	p.P791P			Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	11	9057	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	853					A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Silent	SNP	ENST00000357997.5	37	c.2373G>T	CCDS41869.1																																																																																				0.552	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			10	145	1	0	7.48243e-07	1	8.82927e-07	10	145				
TP53	7157	broad.mit.edu	37	17	7578272	7578272	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr17:7578272G>T	ENST00000269305.4	-	6	766	c.577C>A	c.(577-579)Cat>Aat	p.H193N	TP53_ENST00000445888.2_Missense_Mutation_p.H193N|TP53_ENST00000413465.2_Missense_Mutation_p.H193N|TP53_ENST00000455263.2_Missense_Mutation_p.H193N|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.H193N|TP53_ENST00000420246.2_Missense_Mutation_p.H193N	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	193	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7887414}.|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H193Y(29)|p.H193D(13)|p.0?(8)|p.?(6)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.H193fs*16(3)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.H61D(2)|p.H100D(2)|p.P191fs*15(1)|p.H61Y(1)|p.P191fs*6(1)|p.H100Y(1)|p.P98_E105>Q(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.H193_I195>AP(1)|p.A189fs*53(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)	CGGATAAGATGCTGAGGAGGG	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		85	Substitution - Missense(52)|Whole gene deletion(8)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Deletion - Frameshift(4)|Insertion - Frameshift(3)|Complex - frameshift(1)	p.H193Y(29)|p.H193D(13)|p.0?(8)|p.?(6)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.H193fs*16(3)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.H61D(2)|p.H100D(2)|p.P191fs*15(1)|p.H61Y(1)|p.P191fs*6(1)|p.H100Y(1)|p.P98_E105>Q(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.H193_I195>AP(1)|p.A189fs*53(1)	breast(14)|lung(12)|haematopoietic_and_lymphoid_tissue(8)|biliary_tract(7)|ovary(6)|upper_aerodigestive_tract(5)|liver(5)|oesophagus(5)|central_nervous_system(4)|skin(4)|bone(4)|large_intestine(3)|stomach(2)|urinary_tract(2)|pancreas(2)|adrenal_gland(1)|soft_tissue(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(577-579)Cat>Aat	Other conserved DNA damage response genes	tumor protein p53							95.0	85.0	88.0					17																	7578272		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.chr17:7578272G>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.577C>A	17.37:g.7578272G>T	ENSP00000269305:p.His193Asn	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_ENST00000359597.4_Missense_Mutation_p.H193N|TP53_ENST00000445888.2_Missense_Mutation_p.H193N|TP53_ENST00000269305.4_Missense_Mutation_p.H193N|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.H193N|TP53_ENST00000455263.2_Missense_Mutation_p.H193N	p.H193N	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)	6	709	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	193		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.577C>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.371664	0.61624	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99853	-7.18;-7.18;-7.18;-7.18;-7.18;-7.18;-7.18;-7.18	5.41	5.41	0.78517	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	0.99873	0.9940	M	0.88906	2.99	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.96559	0.9414	10	0.87932	D	0	-29.0766	17.0767	0.86588	0.0:0.0:1.0:0.0	.	154;193;193;100;193;193;193	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	N	193;193;193;193;193;193;182;100;61;100;61	ENSP00000410739:H193N;ENSP00000352610:H193N;ENSP00000269305:H193N;ENSP00000398846:H193N;ENSP00000391127:H193N;ENSP00000391478:H193N;ENSP00000425104:H61N;ENSP00000423862:H100N	ENSP00000269305:H193N	H	-	1	0	TP53	7518997	1.000000	0.71417	0.971000	0.41717	0.032000	0.12392	9.813000	0.99286	2.702000	0.92279	0.655000	0.94253	CAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		13	6	1	0	0.000308642	1	0.000331089	13	6				
TBC1D22B	55633	broad.mit.edu	37	6	37247120	37247120	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr6:37247120A>G	ENST00000373491.3	+	3	300	c.154A>G	c.(154-156)Aag>Gag	p.K52E		NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	52							Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			AGTTCCTCTGAAGAATAAGAA	0.428																																						ENST00000373491.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15						c.(154-156)Aag>Gag		TBC1 domain family, member 22B							133.0	127.0	129.0					6																	37247120		2203	4300	6503	SO:0001583	missense	55633					intracellular	Rab GTPase activator activity	g.chr6:37247120A>G	AK096340	CCDS4832.1	6p21.2	2005-01-05	2005-01-05	2005-01-05	ENSG00000065491	ENSG00000065491			21602	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 197"""	C6orf197			Standard	NM_017772		Approved	FLJ20337, dJ744I24.2	uc003onn.3	Q9NU19	OTTHUMG00000014619	ENST00000373491.3:c.154A>G	6.37:g.37247120A>G	ENSP00000362590:p.Lys52Glu						p.K52E	NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	OV - Ovarian serous cystadenocarcinoma(102;0.241)		3	300	+			52					A8KA28|Q32MQ8|Q5VUK9|Q6P4C3|Q7Z6P7|Q9BPV6|Q9BUT5|Q9NXB6	Missense_Mutation	SNP	ENST00000373491.3	37	c.154A>G	CCDS4832.1	.	.	.	.	.	.	.	.	.	.	A	19.66	3.868315	0.72065	.	.	ENSG00000065491	ENST00000373491	D	0.88124	-2.34	5.56	5.56	0.83823	.	0.044610	0.85682	D	0.000000	D	0.87613	0.6221	M	0.75777	2.31	0.58432	D	0.999999	P	0.51449	0.945	P	0.55545	0.778	D	0.85914	0.1442	10	0.15066	T	0.55	.	14.9786	0.71296	1.0:0.0:0.0:0.0	.	52	Q9NU19	TB22B_HUMAN	E	52	ENSP00000362590:K52E	ENSP00000362590:K52E	K	+	1	0	TBC1D22B	37355098	1.000000	0.71417	1.000000	0.80357	0.349000	0.29174	8.905000	0.92613	2.232000	0.73038	0.533000	0.62120	AAG		0.428	TBC1D22B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040402.1	NM_017772		4	130	0	0	0	1	0	4	130				
CNTNAP3	79937	broad.mit.edu	37	9	39178168	39178168	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr9:39178168A>G	ENST00000297668.6	-	5	801	c.728T>C	c.(727-729)tTt>tCt	p.F243S	CNTNAP3_ENST00000377659.1_Missense_Mutation_p.F243S|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.F243S|CNTNAP3_ENST00000377653.2_5'UTR|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.F155S|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.F243S	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	243	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ATTAAGAAAAAAGACAAGCTT	0.299																																						ENST00000297668.6																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24						c.(727-729)tTt>tCt		contactin associated protein-like 3							31.0	36.0	35.0					9																	39178168		2144	4248	6392	SO:0001583	missense	79937				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding	g.chr9:39178168A>G	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.728T>C	9.37:g.39178168A>G	ENSP00000297668:p.Phe243Ser					CNTNAP3_ENST00000377653.2_5'UTR|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.F243S|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.F243S|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.F155S|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.F243S	p.F243S	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	5	801	-			243			Laminin G-like 1.		B1AMA0|Q9C0E9	Missense_Mutation	SNP	ENST00000297668.6	37	c.728T>C	CCDS6616.1	.	.	.	.	.	.	.	.	.	.	A	13.71	2.318870	0.41096	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144;ENST00000323947;ENST00000377659;ENST00000377653	T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34	3.16	3.16	0.36331	Concanavalin A-like lectin/glucanase (2);Concanavalin A-like lectin/glucanase, subgroup (2);Laminin G domain (4);Laminin G, subdomain 2 (2);	.	.	.	.	T	0.81819	0.4903	L	0.43152	1.355	0.09310	N	1	P;B;B;P;P	0.47677	0.899;0.402;0.288;0.795;0.736	P;B;B;P;P	0.54856	0.762;0.348;0.061;0.565;0.449	T	0.71862	-0.4464	9	0.87932	D	0	.	10.6771	0.45792	1.0:0.0:0.0:0.0	.	243;243;243;243;243	E2QRH2;Q96NU0;Q9BZ76-2;A6NC89;Q9BZ76	.;CNT3B_HUMAN;.;.;CNTP3_HUMAN	S	243;243;155;243;243;155	ENSP00000297668:F243S;ENSP00000366884:F243S;ENSP00000350863:F155S;ENSP00000320728:F243S;ENSP00000366887:F243S	ENSP00000297668:F243S	F	-	2	0	CNTNAP3	39168168	0.777000	0.28628	0.004000	0.12327	0.988000	0.76386	7.211000	0.77933	1.422000	0.47177	0.460000	0.39030	TTT		0.299	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		32	122	0	0	0	1	0	32	122				
SOX30	11063	broad.mit.edu	37	5	157078493	157078493	+	Silent	SNP	G	G	A	rs371262922		TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr5:157078493G>A	ENST00000265007.6	-	1	935	c.594C>T	c.(592-594)ggC>ggT	p.G198G	SOX30_ENST00000311371.5_Silent_p.G198G|SOX30_ENST00000519442.1_Intron	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	198					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to corticosteroid (GO:0031960)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGCCTGCCCCGCCTTGCATCG	0.657																																					Esophageal Squamous(31;525 799 19355 21125 41744)	ENST00000265007.6																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23						c.(592-594)ggC>ggT		SRY (sex determining region Y)-box 30							64.0	75.0	71.0					5																	157078493		2197	4289	6486	SO:0001819	synonymous_variant	11063				regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr5:157078493G>A	AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600		"""SRY (sex determining region Y)-boxes"""	30635	protein-coding gene	gene with protein product		606698				15019997, 11678506	Standard	NM_178424		Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.594C>T	5.37:g.157078493G>A						SOX30_ENST00000311371.5_Silent_p.G198G|SOX30_ENST00000519442.1_Intron	p.G198G	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	935	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	198					O94995|Q8IYX6	Silent	SNP	ENST00000265007.6	37	c.594C>T	CCDS4339.1																																																																																				0.657	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252571.2	NM_007017		16	104	0	0	0	1	0	16	104				
BMS1P20	96610	broad.mit.edu	37	22	22662971	22662971	+	RNA	SNP	A	A	G	rs370670957		TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr22:22662971A>G	ENST00000426066.1	+	0	500					NR_027293.1				BMS1 pseudogene 20																		TGTAAGTAAAATTCACTTTGG	0.323																																						ENST00000426066.1																			0																																																			0							g.chr22:22662971A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22662971A>G								NR_027293.1						0	500	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.323	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			2	5	0	0	0	1	0	2	5				
MAPK8IP3	23162	broad.mit.edu	37	16	1774642	1774642	+	Nonsense_Mutation	SNP	C	C	T			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr16:1774642C>T	ENST00000250894.4	+	2	560	c.403C>T	c.(403-405)Cag>Tag	p.Q135*	MAPK8IP3_ENST00000356010.5_Nonsense_Mutation_p.Q135*	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	135					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CCAGACGCGCCAGCTGGAGCT	0.557																																						ENST00000250894.4																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						c.(403-405)Cag>Tag		mitogen-activated protein kinase 8 interacting protein 3							48.0	54.0	52.0					16																	1774642		2043	4191	6234	SO:0001587	stop_gained	23162				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	g.chr16:1774642C>T	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.403C>T	16.37:g.1774642C>T	ENSP00000250894:p.Gln135*					MAPK8IP3_ENST00000356010.5_Nonsense_Mutation_p.Q135*	p.Q135*	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN			2	560	+			135					A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Nonsense_Mutation	SNP	ENST00000250894.4	37	c.403C>T	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	C	22.9	4.351292	0.82132	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	.	.	.	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-22.8305	17.0836	0.86604	0.0:1.0:0.0:0.0	.	.	.	.	X	135	.	ENSP00000250894:Q135X	Q	+	1	0	MAPK8IP3	1714643	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.650000	0.83521	2.312000	0.78011	0.563000	0.77884	CAG		0.557	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	NM_001040439		19	28	0	0	0	1	0	19	28				
ARHGAP33	115703	broad.mit.edu	37	19	36269483	36269483	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr19:36269483G>A	ENST00000007510.4	+	5	532	c.388G>A	c.(388-390)Gag>Aag	p.E130K	ARHGAP33_ENST00000221905.1_3'UTR|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.E130K|ARHGAP33_ENST00000378944.5_5'UTR			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	130	PX; atypical.				protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CCCGCCCCCCGAGGGTGCCAG	0.597																																						ENST00000007510.4																			0				endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(388-390)Gag>Aag		Rho GTPase activating protein 33							41.0	42.0	42.0					19																	36269483		2203	4300	6503	SO:0001583	missense	115703				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	g.chr19:36269483G>A	AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.388G>A	19.37:g.36269483G>A	ENSP00000007510:p.Glu130Lys					ARHGAP33_ENST00000378944.5_5'UTR|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.E130K|ARHGAP33_ENST00000221905.1_3'UTR	p.E130K			O14559	RHG33_HUMAN			5	532	+			130			PX; atypical.		O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Missense_Mutation	SNP	ENST00000007510.4	37	c.388G>A		.	.	.	.	.	.	.	.	.	.	G	18.52	3.641309	0.67244	.	.	ENSG00000004777	ENST00000007510;ENST00000314737;ENST00000221905	T;T;T	0.28895	1.59;1.59;1.59	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.41119	0.1145	L	0.52573	1.65	0.43010	D	0.994544	D;D	0.76494	0.999;0.998	P;P	0.59546	0.859;0.859	T	0.09684	-1.0663	10	0.13108	T	0.6	.	12.5559	0.56252	0.0803:0.0:0.9197:0.0	.	148;130	O14559-12;O14559-11	.;.	K	130;130;148	ENSP00000007510:E130K;ENSP00000320038:E130K;ENSP00000221905:E148K	ENSP00000007510:E130K	E	+	1	0	ARHGAP33	40961323	1.000000	0.71417	0.995000	0.50966	0.632000	0.37999	5.141000	0.64814	2.643000	0.89663	0.655000	0.94253	GAG		0.597	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948		10	32	0	0	0	1	0	10	32				
KANSL1	284058	broad.mit.edu	37	17	44117079	44117079	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr17:44117079A>G	ENST00000262419.6	-	8	2662	c.2192T>C	c.(2191-2193)cTa>cCa	p.L731P	KANSL1_ENST00000572904.1_Missense_Mutation_p.L731P|KANSL1_ENST00000432791.1_Missense_Mutation_p.L731P|KANSL1_ENST00000393476.3_Missense_Mutation_p.L88P|KANSL1_ENST00000574590.1_Missense_Mutation_p.L731P|KANSL1_ENST00000575318.1_Missense_Mutation_p.L731P	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	731					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											GGCTGTTGTTAGGAAGGAGCT	0.468																																						ENST00000262419.6																			0											c.(2191-2193)cTa>cCa		KAT8 regulatory NSL complex subunit 1							72.0	68.0	69.0					17																	44117079		2203	4300	6503	SO:0001583	missense	284058					MLL1 complex	protein binding	g.chr17:44117079A>G	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.2192T>C	17.37:g.44117079A>G	ENSP00000262419:p.Leu731Pro					KANSL1_ENST00000393476.3_Missense_Mutation_p.L88P|KANSL1_ENST00000432791.1_Missense_Mutation_p.L731P|KANSL1_ENST00000575318.1_Missense_Mutation_p.L731P|KANSL1_ENST00000574590.1_Missense_Mutation_p.L731P|KANSL1_ENST00000572904.1_Missense_Mutation_p.L731P	p.L731P	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN			8	2662	-			731					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Missense_Mutation	SNP	ENST00000262419.6	37	c.2192T>C	CCDS11503.1	.	.	.	.	.	.	.	.	.	.	A	19.82	3.898034	0.72639	.	.	ENSG00000120071	ENST00000262419;ENST00000432791;ENST00000393476	T;T;T	0.26660	2.21;2.21;1.72	6.05	6.05	0.98169	.	0.255631	0.39834	N	0.001253	T	0.33904	0.0879	L	0.38838	1.175	0.80722	D	1	D;D;D;B	0.60575	0.988;0.988;0.969;0.172	P;P;P;B	0.56700	0.804;0.804;0.735;0.135	T	0.02294	-1.1181	10	0.29301	T	0.29	-7.8459	13.9767	0.64277	1.0:0.0:0.0:0.0	.	62;62;731;731	B3KT49;Q7Z3B3-2;C9JHY2;Q7Z3B3	.;.;.;K1267_HUMAN	P	731;731;88	ENSP00000262419:L731P;ENSP00000387393:L731P;ENSP00000377117:L88P	ENSP00000262419:L731P	L	-	2	0	KIAA1267	41472926	1.000000	0.71417	0.802000	0.32245	0.947000	0.59692	8.371000	0.90123	2.320000	0.78422	0.528000	0.53228	CTA		0.468	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		28	62	0	0	0	1	0	28	62				
MYH11	4629	broad.mit.edu	37	16	15841786	15841786	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr16:15841786G>A	ENST00000300036.5	-	18	2304	c.2195C>T	c.(2194-2196)gCg>gTg	p.A732V	MYH11_ENST00000452625.2_Missense_Mutation_p.A739V|MYH11_ENST00000396324.3_Missense_Mutation_p.A739V|MYH11_ENST00000576790.2_Missense_Mutation_p.A732V	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	732	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GGCATTCGCCGCCAGGATCTC	0.612			T	CBFB	AML																																	ENST00000338282.6				Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						c.(2194-2196)gCg>gTg		myosin, heavy chain 11, smooth muscle							83.0	76.0	78.0					16																	15841786		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15841786G>A	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.2195C>T	16.37:g.15841786G>A	ENSP00000300036:p.Ala732Val					MYH11_ENST00000576790.1_Missense_Mutation_p.A732V|MYH11_ENST00000396324.3_Missense_Mutation_p.A739V|MYH11_ENST00000300036.5_Missense_Mutation_p.A732V|MYH11_ENST00000452625.2_Missense_Mutation_p.A739V	p.A732V	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN			18	2301	-			732			Myosin head-like.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.2195C>T	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012272	0.75046	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66	4.82	4.82	0.62117	Myosin head, motor domain (2);	0.062173	0.64402	D	0.000005	T	0.64605	0.2613	L	0.41961	1.31	0.58432	D	0.999997	P;P;B;P;B	0.48589	0.912;0.74;0.33;0.74;0.33	B;B;B;B;B	0.39771	0.227;0.309;0.309;0.309;0.227	T	0.71922	-0.4446	10	0.72032	D	0.01	.	16.918	0.86156	0.0:0.0:1.0:0.0	.	739;732;739;732;739	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	V	732;732;739;739;739	ENSP00000300036:A732V;ENSP00000345136:A732V;ENSP00000379616:A739V;ENSP00000407821:A739V	ENSP00000300036:A732V	A	-	2	0	MYH11	15749287	1.000000	0.71417	0.915000	0.36163	0.996000	0.88848	9.848000	0.99507	2.224000	0.72417	0.561000	0.74099	GCG		0.612	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		9	65	0	0	0	1	0	9	65				
ADAMTS9	56999	broad.mit.edu	37	3	64666958	64666958	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr3:64666958G>C	ENST00000498707.1	-	3	940	c.598C>G	c.(598-600)Caa>Gaa	p.Q200E	ADAMTS9_ENST00000459780.1_Missense_Mutation_p.Q200E|ADAMTS9_ENST00000295903.4_Missense_Mutation_p.Q200E	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	200					glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GGTTTGTTTTGTTCCTCTTCA	0.463																																						ENST00000498707.1																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100						c.(598-600)Caa>Gaa		ADAM metallopeptidase with thrombospondin type 1 motif, 9							221.0	200.0	207.0					3																	64666958		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64666958G>C	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.598C>G	3.37:g.64666958G>C	ENSP00000418735:p.Gln200Glu					ADAMTS9_ENST00000295903.4_Missense_Mutation_p.Q200E|ADAMTS9_ENST00000459780.1_Missense_Mutation_p.Q200E	p.Q200E	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	3	940	-		Lung NSC(201;0.00682)	200					A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.598C>G	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.094619	0.36952	.	.	ENSG00000163638	ENST00000295903;ENST00000498707;ENST00000459780	T;T;T	0.05925	3.37;3.37;3.37	6.04	6.04	0.98038	Peptidase M12B, propeptide (1);	0.059992	0.64402	D	0.000003	T	0.05364	0.0142	N	0.05078	-0.115	0.47476	D	0.999439	B;B;B;B	0.23735	0.084;0.068;0.09;0.041	B;B;B;B	0.26614	0.071;0.062;0.054;0.071	T	0.53422	-0.8441	10	0.37606	T	0.19	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	200;200;200;200	B7ZVX9;Q9P2N4-2;Q9P2N4-1;Q9P2N4	.;.;.;ATS9_HUMAN	E	200	ENSP00000295903:Q200E;ENSP00000418735:Q200E;ENSP00000419217:Q200E	ENSP00000295903:Q200E	Q	-	1	0	ADAMTS9	64641998	1.000000	0.71417	0.927000	0.36925	0.140000	0.21249	7.080000	0.76837	2.873000	0.98535	0.561000	0.74099	CAA		0.463	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			16	32	0	0	0	1	0	16	32				
TUBB8P7	197331	broad.mit.edu	37	16	90161578	90161578	+	RNA	SNP	G	G	A	rs13337896	byFrequency	TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr16:90161578G>A	ENST00000564451.1	+	0	931				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.R105H(3)									GCCAAGGGACGCTACACCGAA	0.587													.|||	668	0.133387	0.0386	0.1499	5008	,	,		18807	0.4087		0.0537	False		,,,				2504	0.0481					ENST00000567960.1																			3	Substitution - Missense(3)	p.R105H(3)	urinary_tract(1)|prostate(1)|kidney(1)																																																0							g.chr16:90161578G>A			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161578G>A						TUBB8P7_ENST00000564451.1_RNA								0	314	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.587	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		8	25	0	0	0	1	0	8	25				
USP53	54532	broad.mit.edu	37	4	120192824	120192824	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr4:120192824A>T	ENST00000274030.6	+	16	2988	c.1809A>T	c.(1807-1809)agA>agT	p.R603S	USP53_ENST00000450251.1_Missense_Mutation_p.R603S	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53											breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						GTGAAAAAAGACAGCATAGTC	0.363																																						ENST00000450251.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						c.(1807-1809)agA>agT		ubiquitin specific peptidase 53							63.0	60.0	61.0					4																	120192824		1838	4079	5917	SO:0001583	missense	54532				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr4:120192824A>T	BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"""Ubiquitin-specific peptidases"""	29255	protein-coding gene	gene with protein product			"""ubiquitin specific protease 53"""			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.1809A>T	4.37:g.120192824A>T	ENSP00000274030:p.Arg603Ser					USP53_ENST00000274030.6_Missense_Mutation_p.R603S	p.R603S			Q70EK8	UBP53_HUMAN			12	2353	+			603						Missense_Mutation	SNP	ENST00000274030.6	37	c.1809A>T	CCDS43265.1	.	.	.	.	.	.	.	.	.	.	A	15.00	2.704277	0.48412	.	.	ENSG00000145390	ENST00000274030;ENST00000450251	T;T	0.25085	1.82;1.82	5.58	0.832	0.18867	.	0.340991	0.30118	N	0.010369	T	0.20414	0.0491	L	0.55103	1.725	0.23238	N	0.998064	B	0.31077	0.307	B	0.24155	0.051	T	0.13229	-1.0517	10	0.46703	T	0.11	-9.1608	9.6592	0.39945	0.4792:0.0:0.5208:0.0	.	603	Q70EK8	UBP53_HUMAN	S	603	ENSP00000274030:R603S;ENSP00000409906:R603S	ENSP00000274030:R603S	R	+	3	2	USP53	120412272	0.164000	0.22935	0.998000	0.56505	0.968000	0.65278	0.115000	0.15540	0.303000	0.22785	-0.371000	0.07208	AGA		0.363	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	XM_052597		14	29	0	0	0	1	0	14	29				
ZNF777	27153	broad.mit.edu	37	7	149152891	149152891	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr7:149152891G>A	ENST00000247930.4	-	2	546	c.223C>T	c.(223-225)Ctc>Ttc	p.L75F		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	75					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CCCTTCTGGAGCACATGTGGC	0.587																																						ENST00000247930.4																			0				large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26						c.(223-225)Ctc>Ttc		zinc finger protein 777							83.0	90.0	88.0					7																	149152891		1904	4118	6022	SO:0001583	missense	27153				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149152891G>A	AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"""Zinc fingers, C2H2-type"", ""-"""	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.223C>T	7.37:g.149152891G>A	ENSP00000247930:p.Leu75Phe						p.L75F	NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		2	546	-	Melanoma(164;0.165)		75					Q8N2R2|Q8N659	Missense_Mutation	SNP	ENST00000247930.4	37	c.223C>T	CCDS43675.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.439190	0.25900	.	.	ENSG00000196453	ENST00000247930	T	0.05447	3.44	4.14	-0.0919	0.13658	.	0.752361	0.11231	N	0.585686	T	0.04182	0.0116	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42599	-0.9442	10	0.33141	T	0.24	-6.1082	6.088	0.19978	0.5062:0.0:0.4938:0.0	.	75	Q9ULD5-2	.	F	75	ENSP00000247930:L75F	ENSP00000247930:L75F	L	-	1	0	ZNF777	148783824	0.006000	0.16342	0.010000	0.14722	0.824000	0.46624	0.397000	0.20883	0.080000	0.16959	0.462000	0.41574	CTC		0.587	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	NM_015694		26	59	0	0	0	1	0	26	59				
PCNT	5116	broad.mit.edu	37	21	47773070	47773070	+	Silent	SNP	G	G	A			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr21:47773070G>A	ENST00000359568.5	+	10	1616	c.1509G>A	c.(1507-1509)caG>caA	p.Q503Q	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	503	Glu-rich.				brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ATTTAGAACAGCTGAAGCAGC	0.463																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(1507-1509)caG>caA		pericentrin							60.0	63.0	62.0					21																	47773070		2203	4300	6503	SO:0001819	synonymous_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47773070G>A	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.1509G>A	21.37:g.47773070G>A						PCNT_ENST00000480896.1_3'UTR	p.Q503Q	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			10	1616	+	Breast(49;0.112)		503			Glu-rich.		O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	c.1509G>A	CCDS33592.1																																																																																				0.463	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		16	38	0	0	0	1	0	16	38				
LILRA3	11026	broad.mit.edu	37	19	54804140	54804140	+	Splice_Site	SNP	C	C	T	rs369073490		TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr19:54804140C>T	ENST00000251390.3	-	1	125	c.34G>A	c.(34-36)Ggg>Agg	p.G12R	LILRA3_ENST00000391745.1_Splice_Site_p.G29R|LILRA3_ENST00000391744.3_Splice_Site_p.G12R	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	12					defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAAATCTCACCGAGACAGATC	0.592																																						ENST00000391745.1																			0				NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.e5+1		leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3		C	ARG/GLY,ARG/GLY	0,4390		0,0,2195	126.0	98.0	108.0		34,34	-0.5	0.0	19		108	1,8331		0,1,4165	no	missense-near-splice,missense-near-splice	LILRA3	NM_001172654.1,NM_006865.3	125,125	0,1,6360	TT,TC,CC		0.012,0.0,0.0079	,	12/376,12/440	54804140	1,12721	2195	4166	6361	SO:0001630	splice_region_variant	0							g.chr19:54804140C>T	U91926		19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.34+1G>A	19.37:g.54804140C>T						LILRA3_ENST00000251390.3_Splice_Site_p.G12_splice|LILRA3_ENST00000391744.3_Splice_Site_p.G12_splice	p.G29_splice						GBM - Glioblastoma multiforme(193;0.105)	5	401	-	Ovarian(34;0.19)							J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Splice_Site	SNP	ENST00000251390.3	37	c.85_splice	CCDS12887.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.663522	0.29515	0.0	1.2E-4	ENSG00000170866	ENST00000251390;ENST00000391744;ENST00000391745	T;T;T	0.01051	5.59;5.4;5.53	1.96	-0.469	0.12142	.	0.324362	0.22175	N	0.063581	T	0.01940	0.0061	M	0.92026	3.265	0.09310	N	1	P;P;D	0.54601	0.678;0.47;0.967	B;B;B	0.36766	0.232;0.127;0.081	T	0.42849	-0.9427	9	.	.	.	.	4.6722	0.12694	0.0:0.6467:0.0:0.3533	.	12;12;12	E7EU74;Q8N6C8;B5ME96	.;LIRA3_HUMAN;.	R	12;12;29	ENSP00000251390:G12R;ENSP00000375624:G12R;ENSP00000375625:G29R	.	G	-	1	0	LILRA3	59495952	0.196000	0.23350	0.008000	0.14137	0.340000	0.28889	0.170000	0.16663	-0.003000	0.14444	0.485000	0.47835	GGG		0.592	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1		Missense_Mutation	5	45	0	0	0	1	0	5	45				
MUC2	4583	broad.mit.edu	37	11	1081442	1081442	+	Missense_Mutation	SNP	C	C	T	rs375966999		TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr11:1081442C>T	ENST00000441003.2	+	12	1487	c.1460C>T	c.(1459-1461)cCg>cTg	p.P487L	MUC2_ENST00000359061.5_Missense_Mutation_p.P487L	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	487	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GTCTTCCGCCCGTCTTCCTAC	0.652																																						ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(1459-1461)cCg>cTg		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)	C	LEU/PRO	0,4186		0,0,2093	73.0	78.0	76.0		1460	2.2	0.0	11		76	1,8403		0,1,4201	no	missense	MUC2	NM_002457.2	98	0,1,6294	TT,TC,CC		0.0119,0.0,0.0079	probably-damaging	487/2813	1081442	1,12589	2093	4202	6295	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1081442C>T	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.1460C>T	11.37:g.1081442C>T	ENSP00000415183:p.Pro487Leu					MUC2_ENST00000359061.5_Missense_Mutation_p.P487L	p.P487L	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	12	1487	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	487			VWFD 2.		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.1460C>T		.	.	.	.	.	.	.	.	.	.	C	10.14	1.268850	0.23136	0.0	1.19E-4	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.55930	0.49;0.49	3.17	2.24	0.28232	.	0.232209	0.25857	U	0.027860	T	0.62183	0.2407	L	0.51853	1.615	0.29273	N	0.870548	D	0.89917	1.0	D	0.87578	0.998	T	0.56817	-0.7916	10	0.39692	T	0.17	.	9.9752	0.41779	0.0:0.8976:0.0:0.1024	.	487	E7EUV1	.	L	487	ENSP00000415183:P487L;ENSP00000351956:P487L	ENSP00000351956:P487L	P	+	2	0	MUC2	1071442	0.984000	0.35163	0.007000	0.13788	0.314000	0.28054	4.544000	0.60691	0.532000	0.28657	0.491000	0.48974	CCG		0.652	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		3	40	0	0	0	1	0	3	40				
RP11-252A24.2	0	broad.mit.edu	37	16	74372644	74372644	+	RNA	SNP	A	A	G			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr16:74372644A>G	ENST00000429810.2	-	0	1552																											TACCCTTGTCAGGGGGAACAA	0.443																																						ENST00000429810.2																			0																																																			0							g.chr16:74372644A>G																													16.37:g.74372644A>G														0	1552	-									RNA	SNP	ENST00000429810.2	37																																																																																						0.443	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			3	16	0	0	0	1	0	3	16				
HSD17B4	3295	broad.mit.edu	37	5	118865641	118865641	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr5:118865641C>T	ENST00000256216.6	+	21	1953	c.1820C>T	c.(1819-1821)cCa>cTa	p.P607L	HSD17B4_ENST00000414835.2_Missense_Mutation_p.P467L|HSD17B4_ENST00000510025.1_Missense_Mutation_p.P583L|HSD17B4_ENST00000504811.1_Missense_Mutation_p.P632L|HSD17B4_ENST00000515320.1_Missense_Mutation_p.P589L|HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000513628.1_Missense_Mutation_p.P470L|HSD17B4_ENST00000509514.1_Missense_Mutation_p.P345L	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	607	Enoyl-CoA hydratase 2.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		GATCTTGCACCAACATCTGGT	0.363																																					Colon(35;490 801 34689 41394 43344)	ENST00000504811.1																			0				breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25						c.(1894-1896)cCa>cTa		hydroxysteroid (17-beta) dehydrogenase 4	NADH(DB00157)						105.0	99.0	101.0					5																	118865641		2202	4300	6502	SO:0001583	missense	3295				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity	g.chr5:118865641C>T		CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5213	protein-coding gene	gene with protein product	"""17beta-estradiol dehydrogenase type IV"", ""peroxisomal multifunctional protein 2"", ""17-beta-HSD IV"", ""17-beta-hydroxysteroid dehydrogenase 4"", ""D-bifunctional protein, peroxisomal"", ""D-3-hydroxyacyl-CoA dehydratase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase"", ""beta-keto-reductase"", ""beta-hydroxyacyl dehydrogenase"", ""short chain dehydrogenase/reductase family 8C, member 1"""	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.1820C>T	5.37:g.118865641C>T	ENSP00000256216:p.Pro607Leu					HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000515320.1_Missense_Mutation_p.P589L|HSD17B4_ENST00000510025.1_Missense_Mutation_p.P583L|HSD17B4_ENST00000513628.1_Missense_Mutation_p.P470L|HSD17B4_ENST00000256216.6_Missense_Mutation_p.P607L|HSD17B4_ENST00000509514.1_Missense_Mutation_p.P345L|HSD17B4_ENST00000414835.2_Missense_Mutation_p.P467L	p.P632L	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	22	2079	+		all_cancers(142;0.0206)|Prostate(80;0.0322)	607			SCP2.		B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	ENST00000256216.6	37	c.1895C>T	CCDS4126.1	.	.	.	.	.	.	.	.	.	.	C	11.46	1.644858	0.29246	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628;ENST00000509514	D;T;T;T;D;T;T	0.82081	-1.57;-1.25;-1.21;-1.24;-1.54;-1.41;-0.9	5.82	4.94	0.65067	.	0.390236	0.29080	N	0.013205	D	0.84853	0.5564	M	0.81497	2.545	0.58432	D	0.999997	P;P;B;B;B	0.49090	0.919;0.514;0.146;0.329;0.061	B;B;B;B;B	0.43623	0.425;0.122;0.05;0.148;0.041	D	0.85519	0.1202	10	0.41790	T	0.15	-3.8593	15.8177	0.78615	0.0:0.8632:0.1368:0.0	.	632;589;583;345;607	F5HE57;E9PB82;E7EWE5;E7EPL9;P51659	.;.;.;.;DHB4_HUMAN	L	607;589;583;632;467;470;345	ENSP00000256216:P607L;ENSP00000424613:P589L;ENSP00000424940:P583L;ENSP00000420914:P632L;ENSP00000411960:P467L;ENSP00000425993:P470L;ENSP00000426272:P345L	ENSP00000256216:P607L	P	+	2	0	HSD17B4	118893540	0.015000	0.18098	0.207000	0.23584	0.076000	0.17211	2.495000	0.45337	1.449000	0.47699	-0.274000	0.10170	CCA		0.363	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250863.3	NM_000414		10	117	0	0	0	1	0	10	117				
C2orf16	84226	broad.mit.edu	37	2	27799480	27799480	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr2:27799480A>T	ENST00000408964.2	+	1	92	c.41A>T	c.(40-42)tAt>tTt	p.Y14F		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	14						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GGTATAAATTATCAAGAGTTG	0.448																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(40-42)tAt>tTt		chromosome 2 open reading frame 16							65.0	62.0	63.0					2																	27799480		1904	4117	6021	SO:0001583	missense	84226							g.chr2:27799480A>T	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.41A>T	2.37:g.27799480A>T	ENSP00000386190:p.Tyr14Phe						p.Y14F	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	92	+	Acute lymphoblastic leukemia(172;0.155)		14					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.41A>T	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	A	0.065	-1.214210	0.01555	.	.	ENSG00000221843	ENST00000408964	T	0.05081	3.5	3.6	-0.718	0.11205	.	.	.	.	.	T	0.01940	0.0061	N	0.14661	0.345	0.09310	N	1	P	0.45176	0.852	B	0.31495	0.131	T	0.29150	-1.0021	9	0.02654	T	1	.	3.6253	0.08111	0.3644:0.1901:0.4455:0.0	.	14	Q68DN1	CB016_HUMAN	F	14	ENSP00000386190:Y14F	ENSP00000386190:Y14F	Y	+	2	0	C2orf16	27652984	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.191000	0.09601	-0.150000	0.11195	-1.252000	0.01501	TAT		0.448	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		5	57	0	0	0	1	0	5	57				
IQCA1	79781	broad.mit.edu	37	2	237402438	237402438	+	Silent	SNP	C	C	T			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr2:237402438C>T	ENST00000409907.3	-	3	703	c.429G>A	c.(427-429)gcG>gcA	p.A143A	IQCA1_ENST00000309507.5_Silent_p.A139A|IQCA1_ENST00000431676.2_Silent_p.A143A	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	143							ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TTCCGCTGTCCGCTAATATTT	0.333																																						ENST00000409907.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						c.(427-429)gcG>gcA		IQ motif containing with AAA domain 1							112.0	101.0	104.0					2																	237402438		1820	4084	5904	SO:0001819	synonymous_variant	79781						ATP binding	g.chr2:237402438C>T	AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"""ATPases / AAA-type"""	26195	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 11"""		"""IQ motif containing with AAA domain"""	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.429G>A	2.37:g.237402438C>T						IQCA1_ENST00000431676.2_Silent_p.A143A|IQCA1_ENST00000309507.5_Silent_p.A139A	p.A143A			Q86XH1	IQCA1_HUMAN			3	703	-			143					B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Silent	SNP	ENST00000409907.3	37	c.429G>A	CCDS46549.1	.	.	.	.	.	.	.	.	.	.	C	4.215	0.038793	0.08148	.	.	ENSG00000132321	ENST00000418802	.	.	.	5.05	-10.1	0.00402	.	.	.	.	.	T	0.14874	0.0359	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.10132	-1.0643	4	.	.	.	.	2.3541	0.04291	0.4067:0.2883:0.0897:0.2153	.	.	.	.	R	162	.	.	G	-	1	0	IQCA1	237067177	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.717000	0.00385	-2.900000	0.00312	-1.011000	0.02470	GGA		0.333	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1	NM_024726		4	2	0	0	0	1	0	4	2				
KDM6A	7403	broad.mit.edu	37	X	44894231	44894231	+	Splice_Site	SNP	G	G	A			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chrX:44894231G>A	ENST00000377967.4	+	7	660		c.e7+1		KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000536777.1_Splice_Site|KDM6A_ENST00000543216.1_Splice_Site	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A						canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0(12)|p.0?(6)|p.?(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AATGCTGAAAGTAAGTATTAT	0.328			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"""D, N, F, S"""	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			"""renal, oesophageal SCC, MM"""		20	No detectable mRNA/protein(12)|Whole gene deletion(6)|Unknown(2)	p.0(12)|p.0?(6)|p.?(2)	haematopoietic_and_lymphoid_tissue(11)|oesophagus(4)|breast(2)|pancreas(2)|soft_tissue(1)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.e7+1		lysine (K)-specific demethylase 6A							222.0	175.0	191.0					X																	44894231		2203	4300	6503	SO:0001630	splice_region_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44894231G>A	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.619+1G>A	X.37:g.44894231G>A						KDM6A_ENST00000543216.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000536777.1_Splice_Site		NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			7	660	+								Q52LL9|Q5JVQ7	Splice_Site	SNP	ENST00000377967.4	37		CCDS14265.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.600216	0.87055	.	.	ENSG00000147050	ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216;ENST00000542299	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2585	0.90025	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KDM6A	44779175	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.471000	0.90403	2.337000	0.79520	0.600000	0.82982	.		0.328	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140	Intron	5	46	0	0	0	1	0	5	46				
GPR126	57211	broad.mit.edu	37	6	142691610	142691610	+	Missense_Mutation	SNP	T	T	G			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr6:142691610T>G	ENST00000230173.6	+	4	1225	c.749T>G	c.(748-750)tTt>tGt	p.F250C	GPR126_ENST00000367608.2_Missense_Mutation_p.F250C|GPR126_ENST00000296932.8_Missense_Mutation_p.F250C|GPR126_ENST00000545477.1_Intron|GPR126_ENST00000367609.3_Missense_Mutation_p.F250C	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	250	Pentaxin.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		GCAGAAAGCTTTGAACAGCTC	0.338																																						ENST00000230173.6																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(748-750)tTt>tGt		G protein-coupled receptor 126							78.0	78.0	78.0					6																	142691610		1824	4077	5901	SO:0001583	missense	0				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:142691610T>G	AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"""-"", ""GPCR / Class B : Orphans"""	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.749T>G	6.37:g.142691610T>G	ENSP00000230173:p.Phe250Cys					GPR126_ENST00000367609.3_Missense_Mutation_p.F250C|GPR126_ENST00000367608.2_Missense_Mutation_p.F250C|GPR126_ENST00000545477.1_Intron|GPR126_ENST00000296932.8_Missense_Mutation_p.F250C	p.F250C	NM_020455.5	NP_065188.4	Q86SQ4	GP126_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)	4	1225	+	Breast(32;0.176)		250			Pentaxin.		Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	ENST00000230173.6	37	c.749T>G	CCDS47490.1	.	.	.	.	.	.	.	.	.	.	T	17.38	3.376296	0.61735	.	.	ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	5.5	4.34	0.51931	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.181255	0.39615	N	0.001316	T	0.58047	0.2095	L	0.60455	1.87	0.29586	N	0.848781	D;D;D;D	0.71674	0.996;0.998;0.996;0.996	P;D;P;D	0.65684	0.896;0.927;0.896;0.937	T	0.59295	-0.7481	10	0.87932	D	0	.	11.38	0.49752	0.0:0.0709:0.0:0.9291	.	250;250;250;250	Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4	.;.;.;GP126_HUMAN	C	250	ENSP00000230173:F250C;ENSP00000356580:F250C;ENSP00000296932:F250C;ENSP00000356581:F250C	ENSP00000230173:F250C	F	+	2	0	GPR126	142733303	1.000000	0.71417	0.996000	0.52242	0.800000	0.45204	3.730000	0.55006	0.929000	0.37192	0.528000	0.53228	TTT		0.338	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2			8	38	0	0	0	1	0	8	38				
WASH3P	374666	broad.mit.edu	37	15	102516424	102516424	+	RNA	SNP	G	G	T	rs201105823		TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr15:102516424G>T	ENST00000557932.1	+	0	1372				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.P449P(4)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGCCGCCACCGCAGCAGCCAC	0.647																																						ENST00000557932.1																			4	Substitution - coding silent(4)	p.P449P(4)	endometrium(3)|kidney(1)	central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														0							g.chr15:102516424G>T			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102516424G>T														0	1372	+									RNA	SNP	ENST00000557932.1	37																																																																																						0.647	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		4	28	1	0	1.23904e-05	1	1.40583e-05	4	28				
OR1N1	138883	broad.mit.edu	37	9	125288736	125288736	+	Silent	SNP	C	C	A			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr9:125288736C>A	ENST00000304880.2	-	1	836	c.837G>T	c.(835-837)gtG>gtT	p.V279V		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	279						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						ACATGGGAGTCACTATGGTGT	0.483																																						ENST00000304880.2																			0				breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(835-837)gtG>gtT		olfactory receptor, family 1, subfamily N, member 1							102.0	95.0	97.0					9																	125288736		2203	4300	6503	SO:0001819	synonymous_variant	138883				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125288736C>A	U86216	CCDS6844.1	9q34.11	2012-08-09			ENSG00000171505	ENSG00000171505		"""GPCR / Class A : Olfactory receptors"""	8221	protein-coding gene	gene with protein product				OR1N3		9500546	Standard	NM_012363		Approved	OR1-26	uc004bmn.1	Q8NGS0	OTTHUMG00000020608	ENST00000304880.2:c.837G>T	9.37:g.125288736C>A							p.V279V	NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN			1	836	-			279					A3KFM1|O43870|Q6IF16|Q96R93	Silent	SNP	ENST00000304880.2	37	c.837G>T	CCDS6844.1																																																																																				0.483	OR1N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053938.1			34	64	1	0	2.85442e-18	1	3.43695e-18	34	64				
GSDMA	284110	broad.mit.edu	37	17	38133155	38133155	+	Silent	SNP	C	C	T	rs138595723	byFrequency	TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr17:38133155C>T	ENST00000301659.4	+	12	1300	c.1182C>T	c.(1180-1182)gaC>gaT	p.D394D		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	394					apoptotic process (GO:0006915)	perinuclear region of cytoplasm (GO:0048471)				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						CCCTTGGGGACGAGGAGCTGA	0.597													C|||	5	0.000998403	0.0	0.0	5008	,	,		18299	0.0		0.004	False		,,,				2504	0.001					ENST00000301659.4																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						c.(1180-1182)gaC>gaT		gasdermin A		C		4,3884		0,4,1940	116.0	120.0	119.0		1182	-11.2	0.4	17	dbSNP_134	119	23,8263		0,23,4120	no	coding-synonymous	GSDMA	NM_178171.4		0,27,6060	TT,TC,CC		0.2776,0.1029,0.2218		394/446	38133155	27,12147	1944	4143	6087	SO:0001819	synonymous_variant	284110				apoptosis|induction of apoptosis	perinuclear region of cytoplasm		g.chr17:38133155C>T	AB093591	CCDS45669.1	17q21.2	2008-07-31	2008-07-31	2008-07-31		ENSG00000167914			13311	protein-coding gene	gene with protein product		611218	"""gasdermin"", ""gasdermin 1"""	GSDM, GSDM1		12883658, 15010812, 17350798	Standard	NM_178171		Approved	FLJ39120	uc002htl.1	Q96QA5		ENST00000301659.4:c.1182C>T	17.37:g.38133155C>T							p.D394D	NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN			12	1300	+			394					Q32MC5|Q86VE7|Q8N1M6	Silent	SNP	ENST00000301659.4	37	c.1182C>T	CCDS45669.1																																																																																				0.597	GSDMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446847.1	NM_178171		5	81	0	0	0	1	0	5	81				
PCDHA5	56143	broad.mit.edu	37	5	140203514	140203514	+	Silent	SNP	C	C	T	rs370219671		TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr5:140203514C>T	ENST00000529859.1	+	1	2154	c.2154C>T	c.(2152-2154)acC>acT	p.T718T	PCDHA5_ENST00000378126.3_Silent_p.T718T|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Silent_p.T718T	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	718					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)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGTACACCGCGCTGCGGT	0.672																																						ENST00000529859.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60						c.(2152-2154)acC>acT				C	,,,,,,	1,4405	2.1+/-5.4	0,1,2202	54.0	52.0	53.0		,,,,2154,,2154	0.1	0.9	5		53	0,8598		0,0,4299	no	intron,intron,intron,intron,coding-synonymous,intron,coding-synonymous	PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_031411.1,NM_031501.1	,,,,,,	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	,,,,,,	,,,,718/937,,718/817	140203514	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	0							g.chr5:140203514C>T	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.2154C>T	5.37:g.140203514C>T						PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.T718T|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.T718T	p.T718T	NM_018908.2	NP_061731.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2154	+								O75284|Q8N4R3	Silent	SNP	ENST00000529859.1	37	c.2154C>T	CCDS54917.1																																																																																				0.672	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		7	51	0	0	0	1	0	7	51				
TBP	6908	broad.mit.edu	37	6	170871052	170871052	+	Silent	SNP	G	G	A	rs112083427|rs369312237	byFrequency	TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr6:170871052G>A	ENST00000392092.2	+	3	507	c.228G>A	c.(226-228)caG>caA	p.Q76Q	TBP_ENST00000230354.6_Silent_p.Q76Q|TBP_ENST00000540980.1_Silent_p.Q56Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	76	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q76Q(4)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcagcagcagcagc	0.572																																						ENST00000392092.2																			4	Substitution - coding silent(4)	p.Q76Q(4)	lung(3)|prostate(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(226-228)caG>caA		TATA box binding protein							14.0	19.0	17.0					6																	170871052		1952	3842	5794	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871052G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.228G>A	6.37:g.170871052G>A						TBP_ENST00000230354.6_Silent_p.Q76Q|TBP_ENST00000540980.1_Silent_p.Q56Q	p.Q76Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	507	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	76			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.228G>A	CCDS5315.1																																																																																				0.572	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		6	27	0	0	0	1	0	6	27				
EEF1D	1936	broad.mit.edu	37	8	144672319	144672319	+	Intron	SNP	G	G	A	rs372669692		TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr8:144672319G>A	ENST00000529272.1	-	2	397				EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000531770.1_5'Flank|EEF1D_ENST00000423316.2_Intron|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000532741.1_Missense_Mutation_p.T28M|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000442189.2_Intron			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CCGCAGCCCCGTGCCCACCCT	0.667																																						ENST00000532741.1																			0				breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(82-84)aCg>aTg		eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)																																				SO:0001627	intron_variant	1936				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity	g.chr8:144672319G>A	AK024550	CCDS6404.1, CCDS6405.1, CCDS47930.1, CCDS56559.1	8q24	2011-09-15			ENSG00000104529	ENSG00000104529			3211	protein-coding gene	gene with protein product		130592				8334168	Standard	NM_001960		Approved	EF-1D, FLJ20897	uc003yyt.3	P29692	OTTHUMG00000165191	ENST00000529272.1:c.4-3300C>T	8.37:g.144672319G>A						EEF1D_ENST00000423316.2_Intron|EEF1D_ENST00000529272.1_Intron|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000442189.2_Intron	p.T28M			P29692	EF1D_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		1	311	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		0					B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Missense_Mutation	SNP	ENST00000529272.1	37	c.83C>T	CCDS6405.1	.	.	.	.	.	.	.	.	.	.	G	3.009	-0.204253	0.06180	.	.	ENSG00000104529	ENST00000532741	.	.	.	2.43	0.563	0.17296	.	.	.	.	.	T	0.15696	0.0378	.	.	.	0.09310	N	1	P	0.49559	0.925	B	0.32211	0.142	T	0.17471	-1.0368	7	0.87932	D	0	.	4.6528	0.12603	0.0:0.2467:0.5003:0.253	.	28	E9PRY8	.	M	28	.	ENSP00000434070:T28M	T	-	2	0	EEF1D	144743462	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.386000	0.20702	0.140000	0.18849	0.557000	0.71058	ACG		0.667	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382592.2	NM_032378		3	19	0	0	0	1	0	3	19				
DIS3	22894	broad.mit.edu	37	13	73337651	73337651	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr13:73337651G>C	ENST00000377767.4	-	16	2165	c.2065C>G	c.(2065-2067)Cga>Gga	p.R689G	DIS3_ENST00000545453.1_Missense_Mutation_p.R527G|DIS3_ENST00000377780.4_Missense_Mutation_p.R659G	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	689					CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		GGATGTTTTCGAAGCAGAGCA	0.368										Multiple Myeloma(4;0.011)																												ENST00000377767.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35						c.(2065-2067)Cga>Gga		DIS3 mitotic control homolog (S. cerevisiae)							89.0	89.0	89.0					13																	73337651		2203	4300	6503	SO:0001583	missense	22894				CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding	g.chr13:73337651G>C	AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"""exosome component 11"""	607533	"""KIAA1008"", ""DIS3 mitotic control homolog (S. cerevisiae)"""	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.2065C>G	13.37:g.73337651G>C	ENSP00000366997:p.Arg689Gly	Multiple Myeloma(4;0.011)				DIS3_ENST00000377780.4_Missense_Mutation_p.R659G|DIS3_ENST00000545453.1_Missense_Mutation_p.R527G	p.R689G	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN		GBM - Glioblastoma multiforme(99;0.000181)	16	2165	-		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)	689					A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Missense_Mutation	SNP	ENST00000377767.4	37	c.2065C>G	CCDS9447.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502413	0.64298	.	.	ENSG00000083520	ENST00000377767;ENST00000377780;ENST00000545453	T;T;T	0.59638	0.25;0.25;0.25	5.74	3.79	0.43588	Ribonuclease II/R (2);	0.000000	0.85682	D	0.000000	D	0.87229	0.6125	H	0.99777	4.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.93561	0.6895	10	0.87932	D	0	.	16.0088	0.80383	0.0:0.0:0.6775:0.3224	.	659;689	Q9Y2L1-2;Q9Y2L1	.;RRP44_HUMAN	G	689;659;527	ENSP00000366997:R689G;ENSP00000367011:R659G;ENSP00000440058:R527G	ENSP00000366997:R689G	R	-	1	2	DIS3	72235652	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.208000	0.51114	1.389000	0.46526	0.655000	0.94253	CGA		0.368	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045250.2	NM_014953		16	46	0	0	0	1	0	16	46				
ANO6	196527	broad.mit.edu	37	12	45816826	45816826	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr12:45816826C>T	ENST00000320560.8	+	19	2709	c.2507C>T	c.(2506-2508)gCt>gTt	p.A836V	ANO6_ENST00000423947.3_Missense_Mutation_p.A857V|ANO6_ENST00000441606.2_Missense_Mutation_p.A818V|ANO6_ENST00000425752.2_Missense_Mutation_p.A836V|ANO6_ENST00000435642.1_Missense_Mutation_p.A836V	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	836					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GCCAAGCTGGCTTTTATCATT	0.408																																						ENST00000320560.8																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(2506-2508)gCt>gTt		anoctamin 6							128.0	124.0	125.0					12																	45816826		2203	4300	6503	SO:0001583	missense	196527				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	g.chr12:45816826C>T	AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25240	protein-coding gene	gene with protein product		608663	"""transmembrane protein 16F"""	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.2507C>T	12.37:g.45816826C>T	ENSP00000320087:p.Ala836Val					ANO6_ENST00000423947.3_Missense_Mutation_p.A857V|ANO6_ENST00000435642.1_Missense_Mutation_p.A836V|ANO6_ENST00000425752.2_Missense_Mutation_p.A836V|ANO6_ENST00000441606.2_Missense_Mutation_p.A818V	p.A836V	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN			19	2709	+			836					A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	ENST00000320560.8	37	c.2507C>T	CCDS31782.1	.	.	.	.	.	.	.	.	.	.	C	32	5.110297	0.94292	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.62941	2.62;-0.01;2.62;-0.01;-0.01	4.76	4.76	0.60689	.	0.123346	0.53938	D	0.000044	T	0.78400	0.4277	M	0.73598	2.24	0.58432	D	0.999999	D;P;D;D	0.67145	0.996;0.954;0.982;0.989	D;P;P;P	0.64687	0.928;0.904;0.897;0.896	T	0.81373	-0.0962	10	0.72032	D	0.01	.	18.6591	0.91465	0.0:1.0:0.0:0.0	.	818;857;836;836	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	V	836;857;836;836;818	ENSP00000391417:A836V;ENSP00000409126:A857V;ENSP00000413840:A836V;ENSP00000320087:A836V;ENSP00000413137:A818V	ENSP00000320087:A836V	A	+	2	0	ANO6	44103093	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.559000	0.82265	2.547000	0.85894	0.655000	0.94253	GCT		0.408	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1	XM_113743		5	89	0	0	0	1	0	5	89				
KCNQ5	56479	broad.mit.edu	37	6	73787590	73787590	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr6:73787590G>A	ENST00000370398.1	+	5	1007	c.898G>A	c.(898-900)Gat>Aat	p.D300N	KCNQ5_ENST00000403813.2_Missense_Mutation_p.D300N|KCNQ5_ENST00000370392.1_Missense_Mutation_p.D300N|KCNQ5_ENST00000414165.2_Missense_Mutation_p.D300N|KCNQ5_ENST00000342056.2_Missense_Mutation_p.D300N|KCNQ5_ENST00000355194.4_Missense_Mutation_p.D300N|KCNQ5_ENST00000402622.2_Missense_Mutation_p.D300N|KCNQ5_ENST00000355635.3_Missense_Mutation_p.D300N	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	300					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	TACATATGCAGATGCTCTCTG	0.328																																					GBM(142;1375 1859 14391 23261 44706)	ENST00000342056.2																			0				breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(898-900)Gat>Aat		potassium voltage-gated channel, KQT-like subfamily, member 5							108.0	95.0	99.0					6																	73787590		2203	4299	6502	SO:0001583	missense	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73787590G>A	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.898G>A	6.37:g.73787590G>A	ENSP00000359425:p.Asp300Asn					KCNQ5_ENST00000403813.2_Missense_Mutation_p.D300N|KCNQ5_ENST00000402622.2_Missense_Mutation_p.D300N|KCNQ5_ENST00000370392.1_Missense_Mutation_p.D300N|KCNQ5_ENST00000370398.1_Missense_Mutation_p.D300N|KCNQ5_ENST00000355635.3_Missense_Mutation_p.D300N|KCNQ5_ENST00000355194.4_Missense_Mutation_p.D300N|KCNQ5_ENST00000414165.2_Missense_Mutation_p.D300N	p.D300N	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	5	1296	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	300					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	c.898G>A	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562253	0.86335	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000370392;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D;D	0.98313	-4.86;-4.86;-4.86;-4.86;-4.86;-4.86;-4.86;-4.86	5.86	5.86	0.93980	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98975	0.9651	M	0.80847	2.515	0.80722	D	1	P;D;D;D;D;D	0.89917	0.537;0.958;0.988;0.985;0.995;1.0	B;P;D;D;D;D	0.74023	0.413;0.835;0.946;0.91;0.934;0.982	D	0.99833	1.1055	10	0.87932	D	0	.	20.1823	0.98208	0.0:0.0:1.0:0.0	.	300;300;300;300;300;300	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82;Q9NR82-4	.;.;.;.;KCNQ5_HUMAN;.	N	300	ENSP00000345055:D300N;ENSP00000347326:D300N;ENSP00000359425:D300N;ENSP00000359419:D300N;ENSP00000385501:D300N;ENSP00000347853:D300N;ENSP00000384453:D300N;ENSP00000409861:D300N	ENSP00000345055:D300N	D	+	1	0	KCNQ5	73844311	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.771000	0.95319	0.650000	0.86243	GAT		0.328	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		24	51	0	0	0	1	0	24	51				
ZNF586	54807	broad.mit.edu	37	19	58288003	58288003	+	Silent	SNP	G	G	A			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr19:58288003G>A	ENST00000396154.2	+	2	302	c.129G>A	c.(127-129)gtG>gtA	p.V43V	ZNF586_ENST00000396150.4_Intron|ZNF586_ENST00000391702.3_De_novo_Start_InFrame|ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron	NM_017652.3	NP_060122.2	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	43	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACCGTGACGTGATGCTGGAGA	0.473																																						ENST00000391702.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15								zinc finger protein 586							300.0	294.0	296.0					19																	58288003		2202	4300	6502	SO:0001819	synonymous_variant	54807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58288003G>A	AK095993	CCDS42640.1, CCDS56107.1, CCDS56108.1	19q13.43	2013-01-08				ENSG00000083828		"""Zinc fingers, C2H2-type"", ""-"""	25949	protein-coding gene	gene with protein product						12477932	Standard	NM_017652		Approved	FLJ20070	uc002qqd.3	Q9NXT0		ENST00000396154.2:c.129G>A	19.37:g.58288003G>A						ZNF586_ENST00000396150.4_Intron|ZNF586_ENST00000396154.2_Silent_p.V43V|ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000599802.1_Intron		NM_001204814.1	NP_001191743.1	Q9NXT0	ZN586_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	0	367	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)						A0JLV8|A8MY63|B3KTS9|E7ERT1|G3XAH3	Translation_Start_Site	SNP	ENST00000396154.2	37		CCDS42640.1																																																																																				0.473	ZNF586-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466825.2	NM_017652		54	129	0	0	0	1	0	54	129				
GABRA6	2559	broad.mit.edu	37	5	161119123	161119123	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr5:161119123G>T	ENST00000274545.5	+	8	1436	c.1003G>T	c.(1003-1005)Gcc>Tcc	p.A335S	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Missense_Mutation_p.A325S			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	335					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	GACACAGAAGGCCAAAAGGAA	0.433										TCGA Ovarian(5;0.080)																												ENST00000523217.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57						c.(973-975)Gcc>Tcc		gamma-aminobutyric acid (GABA) A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						163.0	140.0	148.0					5																	161119123		2203	4300	6503	SO:0001583	missense	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161119123G>T		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.1003G>T	5.37:g.161119123G>T	ENSP00000274545:p.Ala335Ser	TCGA Ovarian(5;0.080)				GABRA6_ENST00000274545.5_Missense_Mutation_p.A335S	p.A325S	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		8	1215	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	335					A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	c.973G>T	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	G	9.428	1.084717	0.20309	.	.	ENSG00000145863	ENST00000274545;ENST00000523217	D;D	0.85773	-2.03;-2.03	5.04	3.18	0.36537	Neurotransmitter-gated ion-channel transmembrane domain (2);	4.873430	0.00839	N	0.001738	T	0.80869	0.4706	L	0.51853	1.615	0.38271	D	0.942149	B	0.02656	0.0	B	0.15052	0.012	T	0.60707	-0.7210	10	0.09843	T	0.71	.	6.3936	0.21601	0.1515:0.0:0.7019:0.1466	.	335	Q16445	GBRA6_HUMAN	S	335;325	ENSP00000274545:A335S;ENSP00000430527:A325S	ENSP00000274545:A335S	A	+	1	0	GABRA6	161051701	1.000000	0.71417	0.994000	0.49952	0.697000	0.40408	3.099000	0.50267	1.060000	0.40578	0.557000	0.71058	GCC		0.433	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			5	109	1	0	0.000602214	1	0.000634476	5	109				
FMO3	2328	broad.mit.edu	37	1	171086373	171086373	+	Missense_Mutation	SNP	G	G	C	rs550307887		TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr1:171086373G>C	ENST00000367755.4	+	9	1501	c.1390G>C	c.(1390-1392)Ggc>Cgc	p.G464R	FMO3_ENST00000392085.2_Missense_Mutation_p.G464R|FMO3_ENST00000538429.1_Missense_Mutation_p.G401R|FMO3_ENST00000542847.1_Missense_Mutation_p.G444R	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	464					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	AGTTTATTTTGGCCCTTGTAG	0.517													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17447	0.0		0.0	False		,,,				2504	0.0					ENST00000367755.4																			0				endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31						c.(1390-1392)Ggc>Cgc		flavin containing monooxygenase 3							91.0	83.0	86.0					1																	171086373		2203	4300	6503	SO:0001583	missense	2328				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	g.chr1:171086373G>C	BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.1390G>C	1.37:g.171086373G>C	ENSP00000356729:p.Gly464Arg					FMO3_ENST00000392085.2_Missense_Mutation_p.G464R|FMO3_ENST00000538429.1_Missense_Mutation_p.G401R|FMO3_ENST00000542847.1_Missense_Mutation_p.G444R	p.G464R	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN			9	1501	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		464					B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	ENST00000367755.4	37	c.1390G>C	CCDS1292.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.911295	0.92178	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.86838	0.6029	H	0.96365	3.81	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.78314	0.983;0.991;0.991	D	0.90686	0.4609	10	0.87932	D	0	-17.8459	19.0456	0.93018	0.0:0.0:1.0:0.0	.	401;444;464	F5H261;F5GZZ8;P31513	.;.;FMO3_HUMAN	R	464;464;444;401	ENSP00000356729:G464R;ENSP00000375935:G464R;ENSP00000444073:G444R;ENSP00000439500:G401R	ENSP00000356729:G464R	G	+	1	0	FMO3	169352997	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	9.864000	0.99589	2.567000	0.86603	0.655000	0.94253	GGC		0.517	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894		7	47	0	0	0	1	0	7	47				
TMEM102	284114	broad.mit.edu	37	17	7339883	7339883	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr17:7339883C>A	ENST00000323206.1	+	3	858	c.585C>A	c.(583-585)agC>agA	p.S195R	RP11-104H15.10_ENST00000575331.1_RNA|RP11-104H15.9_ENST00000570444.1_RNA|RP11-104H15.8_ENST00000576615.1_RNA|FGF11_ENST00000575235.1_5'Flank|FGF11_ENST00000293829.4_5'Flank|TMEM102_ENST00000396568.1_Missense_Mutation_p.S195R|RP11-104H15.7_ENST00000575310.1_RNA	NM_178518.2	NP_848613.1	Q8N9M5	TM102_HUMAN	transmembrane protein 102	195					apoptotic process (GO:0006915)|positive regulation of cell adhesion (GO:0045785)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T cell migration (GO:2000406)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|protein complex (GO:0043234)				kidney(1)|lung(3)|skin(1)	5		Prostate(122;0.173)				AGCCGCACAGCTACGTCACTG	0.577																																						ENST00000323206.1																			0				kidney(1)|lung(3)|skin(1)	5						c.(583-585)agC>agA		transmembrane protein 102							91.0	92.0	91.0					17																	7339883		2203	4300	6503	SO:0001583	missense	284114				regulation of apoptosis|response to cytokine stimulus|signal transduction	cell surface|integral to membrane|intracellular	protein binding	g.chr17:7339883C>A	AK094197	CCDS11104.1	17p13.1	2008-04-21			ENSG00000181284	ENSG00000181284			26722	protein-coding gene	gene with protein product		613936				12477932	Standard	NM_178518		Approved	FLJ36878	uc002ggx.1	Q8N9M5	OTTHUMG00000132901	ENST00000323206.1:c.585C>A	17.37:g.7339883C>A	ENSP00000315387:p.Ser195Arg					RP11-104H15.9_ENST00000570444.1_RNA|RP11-104H15.7_ENST00000575310.1_RNA|TMEM102_ENST00000396568.1_Missense_Mutation_p.S195R	p.S195R	NM_178518.2	NP_848613.1	Q8N9M5	TM102_HUMAN			3	858	+		Prostate(122;0.173)	195					D3DTP8	Missense_Mutation	SNP	ENST00000323206.1	37	c.585C>A	CCDS11104.1	.	.	.	.	.	.	.	.	.	.	C	4.931	0.172979	0.09391	.	.	ENSG00000181284	ENST00000323206;ENST00000396568	T;T	0.46451	0.87;0.87	5.2	1.73	0.24493	.	1.333950	0.04808	N	0.434760	T	0.32496	0.0831	L	0.36672	1.1	0.09310	N	1	B	0.33379	0.41	B	0.26517	0.07	T	0.26573	-1.0099	10	0.59425	D	0.04	-13.1981	6.9465	0.24522	0.0:0.2818:0.0:0.7182	.	195	Q8N9M5	TM102_HUMAN	R	195	ENSP00000315387:S195R;ENSP00000379815:S195R	ENSP00000315387:S195R	S	+	3	2	TMEM102	7280607	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.391000	0.07323	0.066000	0.16515	-0.793000	0.03317	AGC		0.577	TMEM102-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256405.1	NM_178518		5	35	1	0	0.184627	1	0.187811	5	35				
KALRN	8997	broad.mit.edu	37	3	124044870	124044870	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr3:124044870G>A	ENST00000240874.3	+	7	1287	c.1130G>A	c.(1129-1131)cGc>cAc	p.R377H	KALRN_ENST00000460856.1_Missense_Mutation_p.R377H|KALRN_ENST00000360013.3_Missense_Mutation_p.R377H	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	377					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GTGGCTTCCCGCCTCTCTGAG	0.547																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(1129-1131)cGc>cAc		kalirin, RhoGEF kinase							99.0	92.0	94.0					3																	124044870		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124044870G>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.1130G>A	3.37:g.124044870G>A	ENSP00000240874:p.Arg377His					KALRN_ENST00000460856.1_Missense_Mutation_p.R377H|KALRN_ENST00000240874.3_Missense_Mutation_p.R377H	p.R377H	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			7	1257	+			377					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.1130G>A	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.249068|5.249068	0.95305|0.95305	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000354186|ENST00000460856;ENST00000240874;ENST00000360013	.|T;T;T	.|0.51817	.|0.69;0.69;0.69	4.64|4.64	4.64|4.64	0.57946|0.57946	.|.	.|0.076223	.|0.48286	.|D	.|0.000199	T|T	0.69415|0.69415	0.3108|0.3108	M|M	0.76328|0.76328	2.33|2.33	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;0.997;0.999	T|T	0.72469|0.72469	-0.4284|-0.4284	5|10	.|0.56958	.|D	.|0.05	.|.	18.0542|18.0542	0.89358|0.89358	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|377;377;377	.|C9IZQ6;O60229;O60229-2	.|.;KALRN_HUMAN;.	T|H	355|377	.|ENSP00000418611:R377H;ENSP00000240874:R377H;ENSP00000353109:R377H	.|ENSP00000240874:R377H	A|R	+|+	1|2	0|0	KALRN|KALRN	125527560|125527560	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.917000|0.917000	0.54804|0.54804	9.601000|9.601000	0.98297|0.98297	2.564000|2.564000	0.86499|0.86499	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.547	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		10	54	0	0	0	1	0	10	54				
KANSL1	284058	broad.mit.edu	37	17	44117077	44117077	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr17:44117077T>C	ENST00000262419.6	-	8	2664	c.2194A>G	c.(2194-2196)Aca>Gca	p.T732A	KANSL1_ENST00000572904.1_Missense_Mutation_p.T732A|KANSL1_ENST00000432791.1_Missense_Mutation_p.T732A|KANSL1_ENST00000393476.3_Missense_Mutation_p.T89A|KANSL1_ENST00000574590.1_Missense_Mutation_p.T732A|KANSL1_ENST00000575318.1_Missense_Mutation_p.T732A	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	732					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											CTGGCTGTTGTTAGGAAGGAG	0.478																																						ENST00000262419.6																			0											c.(2194-2196)Aca>Gca		KAT8 regulatory NSL complex subunit 1							70.0	66.0	67.0					17																	44117077		2203	4300	6503	SO:0001583	missense	284058					MLL1 complex	protein binding	g.chr17:44117077T>C	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.2194A>G	17.37:g.44117077T>C	ENSP00000262419:p.Thr732Ala					KANSL1_ENST00000393476.3_Missense_Mutation_p.T89A|KANSL1_ENST00000432791.1_Missense_Mutation_p.T732A|KANSL1_ENST00000575318.1_Missense_Mutation_p.T732A|KANSL1_ENST00000574590.1_Missense_Mutation_p.T732A|KANSL1_ENST00000572904.1_Missense_Mutation_p.T732A	p.T732A	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN			8	2664	-			732					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Missense_Mutation	SNP	ENST00000262419.6	37	c.2194A>G	CCDS11503.1	.	.	.	.	.	.	.	.	.	.	T	4.571	0.106028	0.08780	.	.	ENSG00000120071	ENST00000262419;ENST00000432791;ENST00000393476	T;T;T	0.20881	2.85;2.85;2.04	6.05	4.95	0.65309	.	0.363927	0.32785	N	0.005649	T	0.08935	0.0221	N	0.12182	0.205	0.37786	D	0.927208	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.001;0.003;0.001;0.002	T	0.16808	-1.0390	10	0.02654	T	1	-11.9814	7.6338	0.28255	0.0:0.1226:0.0:0.8774	.	63;63;732;732	B3KT49;Q7Z3B3-2;C9JHY2;Q7Z3B3	.;.;.;K1267_HUMAN	A	732;732;89	ENSP00000262419:T732A;ENSP00000387393:T732A;ENSP00000377117:T89A	ENSP00000262419:T732A	T	-	1	0	KIAA1267	41472924	0.999000	0.42202	0.970000	0.41538	0.938000	0.57974	1.871000	0.39539	2.320000	0.78422	0.528000	0.53228	ACA		0.478	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		28	62	0	0	0	1	0	28	62				
TRIM48	79097	broad.mit.edu	37	11	55032718	55032718	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr11:55032718G>T	ENST00000417545.2	+	2	473	c.387G>T	c.(385-387)ttG>ttT	p.L129F		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	113						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						TGCTCTGTTTGCTGTGCTCCA	0.527																																						ENST00000417545.2																			0				endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(385-387)ttG>ttT		tripartite motif containing 48							57.0	52.0	54.0					11																	55032718		2191	4258	6449	SO:0001583	missense	79097					intracellular	zinc ion binding	g.chr11:55032718G>T	AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19021	protein-coding gene	gene with protein product			"""tripartite motif-containing 48"""				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.387G>T	11.37:g.55032718G>T	ENSP00000402414:p.Leu129Phe						p.L129F	NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN			2	473	+			113					Q9BUW4	Missense_Mutation	SNP	ENST00000417545.2	37	c.387G>T	CCDS7947.2	.	.	.	.	.	.	.	.	.	.	g	6.579	0.475203	0.12521	.	.	ENSG00000150244	ENST00000417545	T	0.42131	0.98	0.596	0.596	0.17496	Zinc finger, B-box (3);	.	.	.	.	T	0.52451	0.1735	M	0.78456	2.415	0.22858	N	0.998643	P	0.37688	0.605	P	0.52424	0.698	T	0.47071	-0.9145	9	0.16896	T	0.51	.	7.1377	0.25537	1.0E-4:0.0:0.9999:0.0	.	113	Q8IWZ4	TRI48_HUMAN	F	129	ENSP00000402414:L129F	ENSP00000402414:L129F	L	+	3	2	TRIM48	54789294	0.001000	0.12720	0.074000	0.20217	0.693000	0.40251	0.169000	0.16641	0.629000	0.30376	0.413000	0.27773	TTG		0.527	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1			6	92	1	0	0.248553	1	0.248553	6	92				
HSPD1P6	645548	broad.mit.edu	37	3	36810380	36810381	+	RNA	INS	-	-	T	rs552151240		TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr3:36810380_36810381insT	ENST00000424886.1	-	0	405_406									heat shock 60kDa protein 1 (chaperonin) pseudogene 6																		TGAGTGAGGCCttttttttttt	0.54																																						ENST00000424886.1																			0																																																			0							g.chr3:36810380_36810381insT			3p22.3	2010-06-25	2002-08-29	2008-09-22	ENSG00000230067	ENSG00000230067			5267	pseudogene	pseudogene			"""heat shock 60kD protein 1 (chaperonin) pseudogene 6"""	HSPDP6			Standard	NG_008828		Approved	HSPD1-6P			OTTHUMG00000155803		3.37:g.36810391_36810391dupT														0	405_406	-									RNA	INS	ENST00000424886.1	37																																																																																						0.540	HSPD1P6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341724.1	XR_017400		3	5						3	5	---	---	---	---
HGFAC	3083	broad.mit.edu	37	4	3446102	3446102	+	Frame_Shift_Del	DEL	C	C	-			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr4:3446102delC	ENST00000382774.3	+	6	778	c.663delC	c.(661-663)cgcfs	p.R221fs	HGFAC_ENST00000511533.1_Frame_Shift_Del_p.R221fs	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	221	Fibronectin type-I. {ECO:0000255|PROSITE- ProRule:PRU00478}.				proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCCGCGTGCGCCAGGGCCACG	0.672																																						ENST00000382774.3																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(661-663)cgfs		HGF activator							13.0	15.0	14.0					4																	3446102		2185	4283	6468	SO:0001589	frameshift_variant	3083				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr4:3446102delC	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.663delC	4.37:g.3446102delC	ENSP00000372224:p.Arg221fs					HGFAC_ENST00000511533.1_Frame_Shift_Del_p.R221fs	p.R221fs	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	6	778	+			221			Fibronectin type-I.		Q14726|Q2M1W7|Q53X47	Frame_Shift_Del	DEL	ENST00000382774.3	37	c.663delC	CCDS3369.1																																																																																				0.672	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			2	4						2	4	---	---	---	---
KCNN2	3781	broad.mit.edu	37	5	113698631	113698632	+	In_Frame_Ins	INS	-	-	GCC	rs151038013|rs111266015|rs76852708|rs34641516		TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr5:113698631_113698632insGCC	ENST00000512097.3	+	2	1177_1178	c.159_160insGCC	c.(160-162)gcc>GCCgcc	p.54_54A>AA	KCNN2_ENST00000264773.3_In_Frame_Ins_p.54_54A>AA			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	54	Poly-Ala.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	CTGCAGCCGCTGCCGCCGCCGC	0.703																																						ENST00000512097.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(157-162)gcccgc>gcGCCccgc		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2				1003,2377		300,403,987						-5.9	0.0		dbSNP_126	7	2590,4184		804,982,1601	no	coding	KCNN2	NM_021614.2		1104,1385,2588	A1A1,A1R,RR		38.2344,29.6746,35.3851				3593,6561				SO:0001652	inframe_insertion	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113698631_113698632insGCC	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.169_171dupGCC	5.37:g.113698638_113698640dupGCC	ENSP00000427120:p.Ala58dup					KCNN2_ENST00000264773.3_In_Frame_Ins_p.53_54AR>APR	p.53_54AR>APR			Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	2	1177_1178	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	53			Poly-Ala.		A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	In_Frame_Ins	INS	ENST00000512097.3	37	c.159_160insGCC	CCDS4114.1																																																																																				0.703	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		3	6						3	6	---	---	---	---
PCP2	126006	broad.mit.edu	37	19	7697378	7697382	+	Frame_Shift_Del	DEL	GTCCA	GTCCA	-			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr19:7697378_7697382delGTCCA	ENST00000311069.5	-	3	478_482	c.188_192delTGGAC	c.(187-192)atggacfs	p.MD63fs	XAB2_ENST00000358368.4_5'Flank|CTD-3214H19.4_ENST00000595866.1_Intron|XAB2_ENST00000534844.1_5'Flank|PCP2_ENST00000598935.1_Frame_Shift_Del_p.MD47fs|CTD-3214H19.6_ENST00000601797.1_RNA	NM_174895.1	NP_777555.1	Q8IVA1	PCP2_HUMAN	Purkinje cell protein 2	63	GoLoco 2. {ECO:0000255|PROSITE- ProRule:PRU00097}.				rhodopsin mediated signaling pathway (GO:0016056)	neuronal cell body (GO:0043025)	GTPase regulator activity (GO:0030695)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|urinary_tract(1)	2						CCATGAGGCTGTCCATCTCGGGGGT	0.659																																						ENST00000311069.5																			0				endometrium(1)|urinary_tract(1)	2						c.(187-192)afs		Purkinje cell protein 2																																				SO:0001589	frameshift_variant	126006				signal transduction		GTPase activator activity	g.chr19:7697378_7697382delGTCCA	BC025387	CCDS32893.1, CCDS62521.1	19p13.3	2008-02-05				ENSG00000174788			30209	protein-coding gene	gene with protein product						12477932	Standard	NM_174895		Approved	MGC41903, GPSM4	uc031rjd.1	Q8IVA1		ENST00000311069.5:c.188_192delTGGAC	19.37:g.7697378_7697382delGTCCA	ENSP00000310585:p.Met63fs					CTD-3214H19.4_ENST00000595866.1_Intron|PCP2_ENST00000598935.1_Frame_Shift_Del_p.MD47fs	p.MD63fs	NM_174895.1	NP_777555.1	Q8IVA1	PCP2_HUMAN			3	478_482	-			63			GoLoco 2.		M0R2R7|Q3KRG7	Frame_Shift_Del	DEL	ENST00000311069.5	37	c.188_192delTGGAC	CCDS32893.1																																																																																				0.659	PCP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461026.2	XM_058956		26	65						26	65	---	---	---	---
