#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
TRIML2	205860	broad.mit.edu	37	4	189022258	189022258	+	Silent	SNP	C	C	T	rs141580546		TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr4:189022258C>T	ENST00000512729.1	-	3	656	c.282G>A	c.(280-282)gcG>gcA	p.A94A	TRIML2_ENST00000536972.1_Silent_p.A144A|TRIML2_ENST00000326754.3_Silent_p.A94A	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	94					protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CAAGCTTGATCGCTTGATTCA	0.433																																						ENST00000512729.1																			0				central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39						c.(280-282)gcG>gcA		tripartite motif family-like 2		C		0,4406		0,0,2203	131.0	123.0	126.0		282	2.3	0.0	4	dbSNP_134	126	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TRIML2	NM_173553.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		94/388	189022258	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	205860						ligase activity	g.chr4:189022258C>T	AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"""SPRY domain containing 6"""						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.282G>A	4.37:g.189022258C>T						TRIML2_ENST00000536972.1_Silent_p.A144A|TRIML2_ENST00000326754.3_Silent_p.A94A	p.A94A	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)	3	656	-		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)	94					B7Z6J6	Silent	SNP	ENST00000512729.1	37	c.282G>A	CCDS3850.1																																																																																				0.433	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	NM_173553		10	3	0	0	0	1	0	10	3				
SPHKAP	80309	broad.mit.edu	37	2	228860403	228860403	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr2:228860403G>A	ENST00000392056.3	-	8	4502	c.4456C>T	c.(4456-4458)Ctt>Ttt	p.L1486F	SPHKAP_ENST00000344657.5_Missense_Mutation_p.L1486F	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1486						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTGGTATCAAGGCTGTCACTG	0.532																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(4456-4458)Ctt>Ttt		SPHK1 interactor, AKAP domain containing							43.0	45.0	45.0					2																	228860403		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228860403G>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4456C>T	2.37:g.228860403G>A	ENSP00000375909:p.Leu1486Phe					SPHKAP_ENST00000344657.5_Missense_Mutation_p.L1486F	p.L1486F	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	8	4502	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1486					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.4456C>T	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	2.479	-0.320013	0.05386	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.13901	2.55;2.55	6.06	2.89	0.33648	.	0.555420	0.19223	N	0.119620	T	0.08758	0.0217	L	0.28400	0.85	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.09377	0.003;0.004	T	0.26643	-1.0097	10	0.32370	T	0.25	.	5.4658	0.16642	0.25:0.0:0.5968:0.1532	.	1486;1486	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	F	1486	ENSP00000375909:L1486F;ENSP00000339886:L1486F	ENSP00000339886:L1486F	L	-	1	0	SPHKAP	228568647	0.000000	0.05858	0.323000	0.25347	0.082000	0.17680	0.297000	0.19101	0.897000	0.36392	-0.137000	0.14449	CTT		0.532	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		7	46	0	0	0	1	0	7	46				
B4GALNT3	283358	broad.mit.edu	37	12	644395	644395	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr12:644395C>T	ENST00000266383.5	+	2	246	c.233C>T	c.(232-234)cCa>cTa	p.P78L		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	78					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			GCTGTGGATCCACACCTCCAG	0.597																																						ENST00000266383.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(232-234)cCa>cTa		beta-1,4-N-acetyl-galactosaminyl transferase 3							87.0	71.0	76.0					12																	644395		2203	4300	6503	SO:0001583	missense	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:644395C>T	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.233C>T	12.37:g.644395C>T	ENSP00000266383:p.Pro78Leu						p.P78L	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		2	246	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		78					Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	ENST00000266383.5	37	c.233C>T	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	C	9.108	1.005905	0.19199	.	.	ENSG00000139044	ENST00000266383	T	0.05447	3.44	5.47	5.47	0.80525	.	0.145134	0.46758	D	0.000268	T	0.06234	0.0161	L	0.33485	1.01	0.29028	N	0.885853	B	0.19200	0.034	B	0.16722	0.016	T	0.15464	-1.0436	10	0.29301	T	0.29	-12.8781	12.3349	0.55060	0.0:0.9179:0.0:0.0821	.	78	Q6L9W6	B4GN3_HUMAN	L	78	ENSP00000266383:P78L	ENSP00000266383:P78L	P	+	2	0	B4GALNT3	514656	0.868000	0.29978	0.081000	0.20488	0.131000	0.20780	3.174000	0.50847	2.547000	0.85894	0.563000	0.77884	CCA		0.597	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		6	29	0	0	0	1	0	6	29				
XYLT2	64132	broad.mit.edu	37	17	48431783	48431783	+	Missense_Mutation	SNP	G	G	A	rs148860176	byFrequency	TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr17:48431783G>A	ENST00000017003.2	+	3	692	c.643G>A	c.(643-645)Ggc>Agc	p.G215S	XYLT2_ENST00000507602.1_Missense_Mutation_p.G215S	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	215					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					GATGAGCCCCGGCATCCAGTG	0.667																																						ENST00000017003.2																			0				endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12						c.(643-645)Ggc>Agc		xylosyltransferase II		G	SER/GLY	1,4405	2.1+/-5.4	0,1,2202	29.0	32.0	31.0		643	3.4	1.0	17	dbSNP_134	31	1,8599	1.2+/-3.3	0,1,4299	no	missense	XYLT2	NM_022167.2	56	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	215/866	48431783	2,13004	2203	4300	6503	SO:0001583	missense	64132				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr17:48431783G>A	AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"""protein xylosyltransferase 2"""	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.643G>A	17.37:g.48431783G>A	ENSP00000017003:p.Gly215Ser					XYLT2_ENST00000507602.1_Missense_Mutation_p.G215S	p.G215S	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN			3	692	+	Breast(11;7.18e-19)		215					Q6UY41|Q86V00	Missense_Mutation	SNP	ENST00000017003.2	37	c.643G>A	CCDS11563.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.444317	0.25987	2.27E-4	1.16E-4	ENSG00000015532	ENST00000017003;ENST00000507602	T;T	0.08008	3.69;3.14	4.48	3.43	0.39272	.	0.481763	0.22973	N	0.053407	T	0.05227	0.0139	N	0.19112	0.55	0.09310	N	0.99999	B	0.28512	0.214	B	0.23716	0.048	T	0.37798	-0.9690	10	0.11794	T	0.64	-27.321	13.0062	0.58705	0.0922:0.0:0.9078:0.0	.	215	Q9H1B5	XYLT2_HUMAN	S	215	ENSP00000017003:G215S;ENSP00000426501:G215S	ENSP00000017003:G215S	G	+	1	0	XYLT2	45786782	0.241000	0.23857	0.972000	0.41901	0.910000	0.53928	3.096000	0.50243	2.315000	0.78130	0.313000	0.20887	GGC		0.667	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367046.1	NM_022167		33	17	0	0	0	1	0	33	17				
DHPS	1725	broad.mit.edu	37	19	12792434	12792434	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr19:12792434G>C	ENST00000210060.7	-	1	282	c.147C>G	c.(145-147)ttC>ttG	p.F49L	DHPS_ENST00000599481.1_5'Flank|CTD-2192J16.26_ENST00000593554.1_lincRNA|DHPS_ENST00000351660.5_Missense_Mutation_p.F49L|DHPS_ENST00000594424.1_5'Flank	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN	deoxyhypusine synthase	49					cellular protein metabolic process (GO:0044267)|deoxyhypusine biosynthetic process from spermidine (GO:0050983)|glucose homeostasis (GO:0042593)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell proliferation (GO:0042102)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|translation (GO:0006412)	cytosol (GO:0005829)	deoxyhypusine synthase activity (GO:0034038)			central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8						CGGTGGTGCCGAAGGCCTCCA	0.632																																						ENST00000210060.7																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8						c.(145-147)ttC>ttG		deoxyhypusine synthase	Sulfadoxine(DB01299)						59.0	60.0	60.0					19																	12792434		2203	4300	6503	SO:0001583	missense	1725				peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation	cytosol	deoxyhypusine synthase activity|protein binding	g.chr19:12792434G>C	U79262	CCDS12276.1, CCDS12277.1, CCDS59354.1	19p13.2	2011-11-24			ENSG00000095059	ENSG00000095059			2869	protein-coding gene	gene with protein product	"""migration-inducing gene 13"""	600944				7673224	Standard	NM_001930		Approved	MIG13	uc002muh.2	P49366		ENST00000210060.7:c.147C>G	19.37:g.12792434G>C	ENSP00000210060:p.Phe49Leu					DHPS_ENST00000351660.5_Missense_Mutation_p.F49L	p.F49L	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN			1	282	-			49					A8K688|M0R1I5|Q13184|Q13276|Q9UDG0	Missense_Mutation	SNP	ENST00000210060.7	37	c.147C>G	CCDS12276.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.163283	0.38217	.	.	ENSG00000095059	ENST00000210060;ENST00000351660	T;T	0.42900	0.96;0.96	5.53	3.38	0.38709	.	0.343803	0.32015	N	0.006708	T	0.28863	0.0716	L	0.33339	1.005	0.38094	D	0.937041	B;B;B	0.12630	0.006;0.0;0.0	B;B;B	0.18871	0.023;0.002;0.002	T	0.10359	-1.0633	10	0.19590	T	0.45	-11.7203	9.2865	0.37760	0.0813:0.1556:0.7631:0.0	.	49;49;49	Q5J8M5;P49366-2;P49366	.;.;DHYS_HUMAN	L	49	ENSP00000210060:F49L;ENSP00000221303:F49L	ENSP00000210060:F49L	F	-	3	2	DHPS	12653434	0.995000	0.38212	0.598000	0.28837	0.266000	0.26442	2.501000	0.45389	0.691000	0.31592	0.313000	0.20887	TTC		0.632	DHPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462708.1	NM_001930		44	8	0	0	0	1	0	44	8				
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C	rs369326402	byFrequency	TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597																																						ENST00000463781.3																			10	Substitution - Missense(10)	p.H4205Q(10)	kidney(4)|prostate(3)|urinary_tract(2)|endometrium(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(12613-12615)caC>caG		mucin 4, cell surface associated							15.0	14.0	14.0					3																	195505836		687	1573	2260	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505836G>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12615C>G	3.37:g.195505836G>C	ENSP00000417498:p.His4205Gln					MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q	p.H4205Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	13074	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	968					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.12615C>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	0.099	-1.155501	0.01686	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30448	1.55;1.53	.	.	.	.	.	.	.	.	T	0.17619	0.0423	N	0.19112	0.55	0.21950	N	0.999454	P	0.35208	0.49	B	0.40038	0.317	T	0.24368	-1.0162	6	.	.	.	.	.	.	.	.	4077	E7ESK3	.	Q	4205	ENSP00000417498:H4205Q;ENSP00000420243:H4205Q	.	H	-	3	2	MUC4	196990615	.	.	0.016000	0.15963	0.046000	0.14306	.	.	-0.849000	0.04158	0.074000	0.15403	CAC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		4	9	0	0	0	1	0	4	9				
PCDHGA11	56105	broad.mit.edu	37	5	140801920	140801920	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr5:140801920G>A	ENST00000398587.2	+	1	1159	c.1126G>A	c.(1126-1128)Gat>Aat	p.D376N	PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.D376N|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	376	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAAGATCAAGATTCTGGAGA	0.348																																						ENST00000398587.2																			0				breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49						c.(1126-1128)Gat>Aat									33.0	32.0	32.0					5																	140801920		1822	4081	5903	SO:0001583	missense	0							g.chr5:140801920G>A	AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"""Cadherins / Protocadherins : Clustered"""	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.1126G>A	5.37:g.140801920G>A	ENSP00000381589:p.Asp376Asn					PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.D376N|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron	p.D376N	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1159	+								B7ZVY8|Q9Y5D8|Q9Y5D9	Missense_Mutation	SNP	ENST00000398587.2	37	c.1126G>A	CCDS47294.1	.	.	.	.	.	.	.	.	.	.	g	24.1	4.497781	0.85069	.	.	ENSG00000253873	ENST00000398587;ENST00000518882	T;T	0.74002	-0.8;-0.8	5.82	5.82	0.92795	Cadherin (4);Cadherin-like (1);	0.000000	0.29376	U	0.012324	D	0.93350	0.7880	H	0.99650	4.68	0.44149	D	0.996942	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.998	D	0.95948	0.8952	10	0.87932	D	0	.	19.7094	0.96085	0.0:0.0:1.0:0.0	.	376;376;376	Q9Y5H2;Q9Y5H2-3;Q9Y5H2-2	PCDGB_HUMAN;.;.	N	376	ENSP00000381589:D376N;ENSP00000428333:D376N	ENSP00000381589:D376N	D	+	1	0	PCDHGA11	140782104	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.567000	0.98161	2.752000	0.94435	0.655000	0.94253	GAT		0.348	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1	NM_018914		5	37	0	0	0	1	0	5	37				
ZCCHC6	79670	broad.mit.edu	37	9	88937264	88937264	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr9:88937264C>A	ENST00000375963.3	-	14	3176	c.3004G>T	c.(3004-3006)Gat>Tat	p.D1002Y	ZCCHC6_ENST00000469004.1_5'Flank|ZCCHC6_ENST00000375957.1_5'Flank|ZCCHC6_ENST00000277141.6_Missense_Mutation_p.D291Y|ZCCHC6_ENST00000375960.2_Intron|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.D1002Y	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	1002					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						CAGACTTGATCTAAGATATTT	0.343																																						ENST00000277141.6																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						c.(871-873)Gat>Tat		zinc finger, CCHC domain containing 6							105.0	109.0	108.0					9																	88937264		2203	4300	6503	SO:0001583	missense	79670				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding	g.chr9:88937264C>A	AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.3004G>T	9.37:g.88937264C>A	ENSP00000365130:p.Asp1002Tyr					ZCCHC6_ENST00000375963.3_Missense_Mutation_p.D1002Y|ZCCHC6_ENST00000375960.2_Intron|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.D1002Y	p.D291Y			Q5VYS8	TUT7_HUMAN			15	3295	-			1002					Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	c.871G>T	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.778974	0.70107	.	.	ENSG00000083223	ENST00000277141;ENST00000375961;ENST00000375963	T;T;T	0.49720	0.77;0.77;0.77	5.48	5.48	0.80851	.	0.049031	0.85682	D	0.000000	T	0.71160	0.3307	M	0.79258	2.445	0.50039	D	0.999843	D	0.69078	0.997	D	0.73708	0.981	T	0.73477	-0.3970	10	0.87932	D	0	-30.072	19.5559	0.95347	0.0:1.0:0.0:0.0	.	1002	Q5VYS8	TUT7_HUMAN	Y	291;1002;1002	ENSP00000277141:D291Y;ENSP00000365128:D1002Y;ENSP00000365130:D1002Y	ENSP00000277141:D291Y	D	-	1	0	ZCCHC6	88127084	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.717000	0.47227	2.861000	0.98227	0.650000	0.86243	GAT		0.343	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617		18	8	1	0	3.51602e-12	1	3.75684e-12	18	8				
CR1	1378	broad.mit.edu	37	1	207751246	207751246	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr1:207751246G>A	ENST00000367049.4	+	29	4634	c.4634G>A	c.(4633-4635)tGc>tAc	p.C1545Y	CR1_ENST00000400960.2_Missense_Mutation_p.C1095Y|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367052.1_Missense_Mutation_p.C1095Y|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367051.1_Missense_Mutation_p.C1095Y|CR1_ENST00000367053.1_Missense_Mutation_p.C1095Y	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1095	Sushi 24. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ACCTACCGCTGCAATCTTGGA	0.522																																						ENST00000367049.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(4633-4635)tGc>tAc		complement component (3b/4b) receptor 1 (Knops blood group)							177.0	169.0	172.0					1																	207751246		1896	4123	6019	SO:0001583	missense	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207751246G>A	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.4634G>A	1.37:g.207751246G>A	ENSP00000356016:p.Cys1545Tyr					CR1_ENST00000367052.1_Missense_Mutation_p.C1095Y|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367051.1_Missense_Mutation_p.C1095Y|CR1_ENST00000367053.1_Missense_Mutation_p.C1095Y|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000400960.2_Missense_Mutation_p.C1095Y	p.C1545Y	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN			29	4634	+			1095			Sushi 24.		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	c.4634G>A	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.653428	0.47362	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000534202;ENST00000367049	D;D;D;D;D;D	0.99784	-6.74;-6.74;-6.74;-6.74;-6.74;-6.74	3.5	3.5	0.40072	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.99878	0.9942	H	0.99565	4.63	0.09310	N	0.999992	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.997;0.967;0.998	D	0.99053	1.0828	9	0.48119	T	0.1	.	11.2287	0.48899	0.0:0.0:1.0:0.0	.	1095;1095;1545	Q5SR44;P17927;E9PDY4	.;CR1_HUMAN;.	Y	1095;1095;1095;1095;645;1545	ENSP00000356019:C1095Y;ENSP00000356018:C1095Y;ENSP00000356020:C1095Y;ENSP00000383744:C1095Y;ENSP00000436139:C645Y;ENSP00000356016:C1545Y	ENSP00000356016:C1545Y	C	+	2	0	CR1	205817869	0.982000	0.34865	0.174000	0.22961	0.188000	0.23474	4.653000	0.61462	1.899000	0.54978	0.585000	0.79938	TGC		0.522	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		8	223	0	0	0	1	0	8	223				
NUP43	348995	broad.mit.edu	37	6	150067548	150067548	+	Silent	SNP	G	G	A			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr6:150067548G>A	ENST00000340413.2	-	1	160	c.84C>T	c.(82-84)acC>acT	p.T28T	NUP43_ENST00000367403.3_Silent_p.T89T|NUP43_ENST00000460354.2_Silent_p.T28T|NUP43_ENST00000367404.4_Silent_p.T28T|NUP43_ENST00000463048.3_Intron	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	28					carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		ACGTCTCCGCGGTCTGTAAAC	0.587											OREG0017720	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000340413.2																			0				breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(82-84)acC>acT		nucleoporin 43kDa							112.0	119.0	116.0					6																	150067548		2203	4300	6503	SO:0001819	synonymous_variant	348995				carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding	g.chr6:150067548G>A	AF514997	CCDS5218.1	6q25.1	2013-01-10			ENSG00000120253	ENSG00000120253		"""WD repeat domain containing"""	21182	protein-coding gene	gene with protein product		608141				12196509	Standard	XM_005266961		Approved	bA350J20.1, FLJ13287	uc003qmz.3	Q8NFH3	OTTHUMG00000015795	ENST00000340413.2:c.84C>T	6.37:g.150067548G>A			OREG0017720	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1729	NUP43_ENST00000367403.3_Silent_p.T89T|NUP43_ENST00000367404.4_Silent_p.T28T|NUP43_ENST00000463048.3_Intron|NUP43_ENST00000460354.2_Silent_p.T28T	p.T28T	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)	1	160	-		Ovarian(120;0.0164)	28					B4E2F0|Q9H8S0	Silent	SNP	ENST00000340413.2	37	c.84C>T	CCDS5218.1																																																																																				0.587	NUP43-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396947.1	NM_198887		94	130	0	0	0	1	0	94	130				
CKM	1158	broad.mit.edu	37	19	45811690	45811690	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr19:45811690G>A	ENST00000221476.3	-	6	928	c.754C>T	c.(754-756)Cgc>Tgc	p.R252C		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	252	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|phosphocreatine biosynthetic process (GO:0046314)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	ACGCAGAAGCGGCGGAAAACC	0.597																																						ENST00000221476.3																			0				cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17						c.(754-756)Cgc>Tgc		creatine kinase, muscle	Creatine(DB00148)						106.0	84.0	92.0					19																	45811690		2203	4300	6503	SO:0001583	missense	1158				creatine metabolic process	cytosol	ATP binding|creatine kinase activity	g.chr19:45811690G>A	M14780	CCDS12659.1	19q13.32	2012-10-02			ENSG00000104879	ENSG00000104879	2.7.3.2		1994	protein-coding gene	gene with protein product		123310		CKMM			Standard	NM_001824		Approved		uc002pbd.4	P06732		ENST00000221476.3:c.754C>T	19.37:g.45811690G>A	ENSP00000221476:p.Arg252Cys						p.R252C	NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	6	928	-		Ovarian(192;0.0336)|all_neural(266;0.112)	252			Phosphagen kinase C-terminal.		Q96QL9	Missense_Mutation	SNP	ENST00000221476.3	37	c.754C>T	CCDS12659.1	.	.	.	.	.	.	.	.	.	.	G	32	5.113299	0.94339	.	.	ENSG00000104879	ENST00000221476	T	0.12569	2.67	5.5	5.5	0.81552	ATP:guanido phosphotransferase, catalytic domain (2);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.58637	0.2136	H	0.99273	4.495	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.77395	-0.2604	10	0.87932	D	0	-43.9433	16.8863	0.86077	0.0:0.0:1.0:0.0	.	252	P06732	KCRM_HUMAN	C	252	ENSP00000221476:R252C	ENSP00000221476:R252C	R	-	1	0	CKM	50503530	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.084000	0.71335	2.605000	0.88082	0.555000	0.69702	CGC		0.597	CKM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457569.1			11	46	0	0	0	1	0	11	46				
RP11-423O2.5	0	broad.mit.edu	37	1	142803315	142803315	+	lincRNA	SNP	A	A	C			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr1:142803315A>C	ENST00000423385.1	-	0	1650																											ACAGGATGTAAAGCATACACA	0.378																																						ENST00000423385.1																			0																																																			0							g.chr1:142803315A>C																													1.37:g.142803315A>C														0	1650	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.378	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			3	11	0	0	0	1	0	3	11				
DYNC1H1	1778	broad.mit.edu	37	14	102506745	102506745	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr14:102506745G>A	ENST00000360184.4	+	63	12027	c.11863G>A	c.(11863-11865)Gag>Aag	p.E3955K	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3955					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TCAGGCAGACGAGGTGATTGT	0.512																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(11863-11865)Gag>Aag		dynein, cytoplasmic 1, heavy chain 1							54.0	52.0	53.0					14																	102506745		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102506745G>A	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.11863G>A	14.37:g.102506745G>A	ENSP00000348965:p.Glu3955Lys					RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	p.E3955K	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			63	12027	+			3955					B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.11863G>A	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.734409	0.48939	.	.	ENSG00000197102	ENST00000360184	T	0.07567	3.18	5.82	4.93	0.64822	Dynein heavy chain (1);	0.046353	0.85682	D	0.000000	T	0.10035	0.0246	L	0.58669	1.825	0.80722	D	1	B	0.24721	0.11	B	0.17098	0.017	T	0.08554	-1.0716	10	0.11794	T	0.64	.	15.0977	0.72247	0.0682:0.0:0.9318:0.0	.	3955	Q14204	DYHC1_HUMAN	K	3955	ENSP00000348965:E3955K	ENSP00000348965:E3955K	E	+	1	0	DYNC1H1	101576498	1.000000	0.71417	0.883000	0.34634	0.448000	0.32197	9.869000	0.99810	1.464000	0.47987	0.655000	0.94253	GAG		0.512	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		20	33	0	0	0	1	0	20	33				
NBPF15	284565	broad.mit.edu	37	1	148594544	148594544	+	Silent	SNP	T	T	C			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr1:148594544T>C	ENST00000369187.3	+	19	2406	c.1917T>C	c.(1915-1917)caT>caC	p.H639H	NBPF15_ENST00000442702.2_Silent_p.H639H	NM_173638.3	NP_775909.2	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	639	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					AGGAAGAGCATATCAGCTTCG	0.433																																						ENST00000442702.2																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12						c.(1915-1917)caT>caC		neuroblastoma breakpoint family, member 15							149.0	202.0	185.0					1																	148594544		2174	4293	6467	SO:0001819	synonymous_variant	284565					cytoplasm		g.chr1:148594544T>C	BC023087	CCDS72852.1	1q21.1	2014-01-16			ENSG00000243452	ENSG00000266338		"""neuroblastoma breakpoint family"""	28791	protein-coding gene	gene with protein product		610414, 614005	"""neuroblastoma breakpoint family, member 16"""	NBPF16		16079250	Standard	NM_173638		Approved	MGC8902	uc001esc.2	Q8N660	OTTHUMG00000013634	ENST00000369187.3:c.1917T>C	1.37:g.148594544T>C						NBPF15_ENST00000369187.3_Silent_p.H639H	p.H639H	NM_001170755.1	NP_001164226.1	Q8N660	NBPFF_HUMAN			21	2984	+	all_hematologic(923;0.032)		639			NBPF 6.		Q3BBV9|Q8IX77	Silent	SNP	ENST00000369187.3	37	c.1917T>C	CCDS932.1																																																																																				0.433	NBPF15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038609.3	NM_173638		5	242	0	0	0	1	0	5	242				
OR7A5	26659	broad.mit.edu	37	19	14938184	14938184	+	Silent	SNP	A	A	G	rs200531878		TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr19:14938184A>G	ENST00000322301.3	-	2	957	c.870T>C	c.(868-870)taT>taC	p.Y290Y	OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Silent_p.Y290Y			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	290					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y290Y(2)		breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						TCCTCAGACTATAGATAAAGG	0.478																																						ENST00000322301.3																			2	Substitution - coding silent(2)	p.Y290Y(2)	kidney(2)	breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(868-870)taT>taC		olfactory receptor, family 7, subfamily A, member 5							74.0	72.0	72.0					19																	14938184		2203	4300	6503	SO:0001819	synonymous_variant	26659				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14938184A>G	X64976	CCDS12318.1	19p13.1	2012-08-09	2003-12-09			ENSG00000188269		"""GPCR / Class A : Olfactory receptors"""	8368	protein-coding gene	gene with protein product			"""olfactory receptor, family 7, subfamily A, member 5 pseudogene"""				Standard	XM_006722722		Approved	HTPCR2	uc002mzw.3	Q15622		ENST00000322301.3:c.870T>C	19.37:g.14938184A>G						OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Silent_p.Y290Y	p.Y290Y			Q15622	OR7A5_HUMAN			2	957	-			290					B2R682|Q6IFP1|Q96R96	Silent	SNP	ENST00000322301.3	37	c.870T>C	CCDS12318.1																																																																																				0.478	OR7A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466518.1	NM_017506		4	91	0	0	0	1	0	4	91				
AGPAT6	137964	broad.mit.edu	37	8	41467297	41467297	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr8:41467297G>A	ENST00000396987.3	+	4	1286	c.359G>A	c.(358-360)cGg>cAg	p.R120Q	RP11-360L9.8_ENST00000581909.1_RNA	NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	120					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|fatty acid metabolic process (GO:0006631)|glandular epithelial cell maturation (GO:0002071)|glycerophospholipid biosynthetic process (GO:0046474)|lactation (GO:0007595)|lipid biosynthetic process (GO:0008610)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			TACTTTTGCCGGAAAGGAATG	0.443																																						ENST00000396987.3																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14						c.(358-360)cGg>cAg		1-acylglycerol-3-phosphate O-acyltransferase 6							105.0	99.0	101.0					8																	41467297		2203	4300	6503	SO:0001583	missense	137964				acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity	g.chr8:41467297G>A	AF406612	CCDS6117.1	8p11.21	2013-02-05	2013-02-05			ENSG00000158669	2.3.1.15	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20880	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, zeta"""	608143	"""1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta)"""			12938015	Standard	NM_178819		Approved	DKFZp586M1819, LPAAT-zeta	uc003xnz.2	Q86UL3		ENST00000396987.3:c.359G>A	8.37:g.41467297G>A	ENSP00000380184:p.Arg120Gln					RP11-360L9.8_ENST00000581909.1_RNA	p.R120Q	NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)		4	1286	+	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	120					Q86V89	Missense_Mutation	SNP	ENST00000396987.3	37	c.359G>A	CCDS6117.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.947472	0.92593	.	.	ENSG00000158669	ENST00000396987;ENST00000519853	T	0.45276	0.9	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.36413	0.0966	L	0.38531	1.155	0.80722	D	1	B	0.29432	0.244	B	0.26310	0.068	T	0.28235	-1.0050	10	0.59425	D	0.04	.	17.4163	0.87500	0.0:0.0:1.0:0.0	.	120	Q86UL3	GPAT4_HUMAN	Q	120;74	ENSP00000380184:R120Q	ENSP00000380184:R120Q	R	+	2	0	AGPAT6	41586454	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.597000	0.98273	2.643000	0.89663	0.563000	0.77884	CGG		0.443	AGPAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377158.1	NM_178819		121	50	0	0	0	1	0	121	50				
NPY4R	5540	broad.mit.edu	37	10	47087186	47087186	+	Missense_Mutation	SNP	G	G	A	rs144429123		TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr10:47087186G>A	ENST00000395716.1	+	2	488	c.403G>A	c.(403-405)Gtg>Atg	p.V135M	NPY4R_ENST00000374312.1_Missense_Mutation_p.V135M			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	135					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)	p.V135M(1)									GCTCGTCCTCGTGGCCCTGGA	0.572																																						ENST00000374312.1																			1	Substitution - Missense(1)	p.V135M(1)	large_intestine(1)								c.(403-405)Gtg>Atg		neuropeptide Y receptor Y4							288.0	256.0	267.0					10																	47087186		2203	4300	6503	SO:0001583	missense	0							g.chr10:47087186G>A		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"""GPCR / Class A : Neuropeptide receptors : Y"""	9329	protein-coding gene	gene with protein product		601790	"""pancreatic polypeptide receptor 1"""	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.403G>A	10.37:g.47087186G>A	ENSP00000379066:p.Val135Met					NPY4R_ENST00000395716.1_Missense_Mutation_p.V135M	p.V135M	NM_005972.4	NP_005963.3					3	822	+								Q13456|Q5ISU3|Q5T2X9|Q6FH06	Missense_Mutation	SNP	ENST00000395716.1	37	c.403G>A	CCDS31193.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.978308	0.53720	.	.	ENSG00000204174	ENST00000374312;ENST00000395716	T;T	0.70986	-0.53;-0.53	4.93	4.01	0.46588	GPCR, rhodopsin-like superfamily (1);	0.136285	0.49916	D	0.000137	T	0.70141	0.3190	N	0.26042	0.785	0.40798	D	0.983314	D	0.76494	0.999	D	0.64687	0.928	T	0.72734	-0.4204	10	0.87932	D	0	.	8.1752	0.31278	0.1832:0.0:0.8168:0.0	.	135	P50391	NPY4R_HUMAN	M	135	ENSP00000363431:V135M;ENSP00000379066:V135M	ENSP00000363431:V135M	V	+	1	0	PPYR1	46507192	1.000000	0.71417	0.981000	0.43875	0.539000	0.34962	6.054000	0.71096	2.464000	0.83262	0.609000	0.83330	GTG		0.572	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			42	353	0	0	0	1	0	42	353				
POLR2A	5430	broad.mit.edu	37	17	7414885	7414885	+	Missense_Mutation	SNP	A	A	G			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr17:7414885A>G	ENST00000322644.6	+	24	4478	c.4079A>G	c.(4078-4080)aAt>aGt	p.N1360S		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1360					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				ACCACGTCCAATGACATTGTG	0.592																																						ENST00000322644.6																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(4078-4080)aAt>aGt		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							103.0	77.0	86.0					17																	7414885		2203	4300	6503	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7414885A>G			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.4079A>G	17.37:g.7414885A>G	ENSP00000314949:p.Asn1360Ser						p.N1360S	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN			24	4478	+		Prostate(122;0.173)	1360					A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.4079A>G	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.827472	0.90955	.	.	ENSG00000181222	ENST00000535204;ENST00000545644;ENST00000322644	T	0.70869	-0.52	4.59	4.59	0.56863	RNA polymerase Rpb1, domain 5 (1);	0.059304	0.64402	D	0.000005	D	0.90082	0.6902	H	0.98849	4.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93523	0.6863	10	0.87932	D	0	-14.8241	13.4186	0.60982	1.0:0.0:0.0:0.0	.	1360	P24928	RPB1_HUMAN	S	1316;259;1360	ENSP00000314949:N1360S	ENSP00000314949:N1360S	N	+	2	0	SLC35G6	7355609	1.000000	0.71417	0.998000	0.56505	0.923000	0.55619	8.136000	0.89610	2.073000	0.62155	0.369000	0.22263	AAT		0.592	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		15	3	0	0	0	1	0	15	3				
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)cGg>cAg	Other conserved DNA damage response genes	tumor protein p53		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152.0	112.0	126.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1.0	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577538C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q	p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	875	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		36	6	0	0	0	1	0	36	6				
TRIM37	4591	broad.mit.edu	37	17	57057477	57057477	+	IGR	SNP	C	C	T	rs140315231		TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr17:57057477C>T	ENST00000393066.3	-	0	3622				PPM1E_ENST00000308249.2_Silent_p.S451S	NM_001005207.2	NP_001005207.1	O94972	TRI37_HUMAN	tripartite motif containing 37						aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					AAGTTGTGTCCGACCACCTGA	0.502									Mulibrey Nanism																													ENST00000308249.2																			0				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33						c.(1351-1353)tcC>tcT		protein phosphatase, Mg2+/Mn2+ dependent, 1E		C		1,4405	2.1+/-5.4	0,1,2202	129.0	97.0	108.0		1353	0.5	1.0	17	dbSNP_134	108	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PPM1E	NM_014906.3		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		451/756	57057477	2,13004	2203	4300	6503	SO:0001628	intergenic_variant	22843		Familial Cancer Database	Perheentupa syndrome	protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr17:57057477C>T	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972			17.37:g.57057477C>T							p.S451S	NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.76e-11)		7	1482	+	Medulloblastoma(34;0.127)|all_neural(34;0.237)		460			PP2C-like.		Q7Z3E6|Q8IYF7|Q8WYF7	Silent	SNP	ENST00000393066.3	37	c.1353C>T	CCDS45746.1																																																																																				0.502	TRIM37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445928.1	NM_015294		13	40	0	0	0	1	0	13	40				
MTMR6	9107	broad.mit.edu	37	13	25848322	25848322	+	Missense_Mutation	SNP	C	C	T	rs373972921		TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr13:25848322C>T	ENST00000381801.5	-	2	789	c.28G>A	c.(28-30)Gaa>Aaa	p.E10K	MTMR6_ENST00000540661.1_Missense_Mutation_p.E10K	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	10					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|potassium ion transmembrane transport (GO:0071805)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	calcium-activated potassium channel activity (GO:0015269)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		TTTACTTGTTCGACCTAAAAG	0.313																																						ENST00000381801.5																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36						c.(28-30)Gaa>Aaa		myotubularin related protein 6							84.0	78.0	80.0					13																	25848322		2203	4300	6503	SO:0001583	missense	9107					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr13:25848322C>T	AF072928	CCDS9313.1	13q12	2011-06-09			ENSG00000139505	ENSG00000139505		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7453	protein-coding gene	gene with protein product		603561				9736772	Standard	NM_004685		Approved		uc001uqf.4	Q9Y217	OTTHUMG00000016606	ENST00000381801.5:c.28G>A	13.37:g.25848322C>T	ENSP00000371221:p.Glu10Lys					MTMR6_ENST00000540661.1_Missense_Mutation_p.E10K	p.E10K	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)	2	789	-		Lung SC(185;0.0225)|Breast(139;0.0351)	10					B2RBB5|B3KSB4|Q5JRG6|Q86TB7|Q86YH4|Q96P80	Missense_Mutation	SNP	ENST00000381801.5	37	c.28G>A	CCDS9313.1	.	.	.	.	.	.	.	.	.	.	C	33	5.199563	0.94997	.	.	ENSG00000139505	ENST00000540661;ENST00000541021;ENST00000381801	D;D	0.81908	-1.55;-1.55	4.93	4.93	0.64822	.	0.048235	0.85682	N	0.000000	D	0.93419	0.7901	H	0.94462	3.54	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.68621	0.934;0.959	D	0.94534	0.7739	10	0.51188	T	0.08	.	18.5046	0.90893	0.0:1.0:0.0:0.0	.	10;10	Q9Y217;Q9Y217-2	MTMR6_HUMAN;.	K	10	ENSP00000443161:E10K;ENSP00000371221:E10K	ENSP00000371221:E10K	E	-	1	0	MTMR6	24746322	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.222000	0.78025	2.449000	0.82847	0.591000	0.81541	GAA		0.313	MTMR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044225.1	NM_004685		22	8	0	0	0	1	0	22	8				
ZNF654	55279	broad.mit.edu	37	3	88189976	88189976	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr3:88189976C>T	ENST00000309495.5	+	1	1723	c.1516C>T	c.(1516-1518)Ccc>Tcc	p.P506S	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	506					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		ACCATTGCCTCCCAGTTACCT	0.393																																						ENST00000309495.5																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12						c.(1516-1518)Ccc>Tcc		zinc finger protein 654							136.0	124.0	128.0					3																	88189976		1865	4111	5976	SO:0001583	missense	55279				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:88189976C>T	AF543494	CCDS46874.1	3p11.1	2005-01-10			ENSG00000175105	ENSG00000175105			25612	protein-coding gene	gene with protein product							Standard	NM_018293		Approved	FLJ10997, FLJ21142	uc003dqv.3	Q8IZM8	OTTHUMG00000159097	ENST00000309495.5:c.1516C>T	3.37:g.88189976C>T	ENSP00000312141:p.Pro506Ser					CGGBP1_ENST00000462901.1_Intron	p.P506S	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)	1	1723	+		Lung NSC(201;0.0283)	506					Q9H791|Q9NV14	Missense_Mutation	SNP	ENST00000309495.5	37	c.1516C>T	CCDS46874.1	.	.	.	.	.	.	.	.	.	.	c	12.65	2.001437	0.35320	.	.	ENSG00000175105	ENST00000309495	T	0.08102	3.13	5.33	5.33	0.75918	.	.	.	.	.	T	0.07098	0.0180	N	0.12746	0.255	0.33318	D	0.56694	P	0.41748	0.761	B	0.40134	0.32	T	0.29640	-1.0005	9	0.34782	T	0.22	.	18.0089	0.89217	0.0:1.0:0.0:0.0	.	506	Q8IZM8	ZN654_HUMAN	S	506	ENSP00000312141:P506S	ENSP00000312141:P506S	P	+	1	0	ZNF654	88272666	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.060000	0.49955	2.479000	0.83701	0.574000	0.79327	CCC		0.393	ZNF654-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353285.2	NM_018293		14	58	0	0	0	1	0	14	58				
TTLL5	23093	broad.mit.edu	37	14	76232491	76232491	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr14:76232491G>A	ENST00000298832.9	+	20	2000	c.1795G>A	c.(1795-1797)Gaa>Aaa	p.E599K	TTLL5_ENST00000554510.1_Missense_Mutation_p.E108K|TTLL5_ENST00000556893.1_Missense_Mutation_p.E150K|TTLL5_ENST00000557636.1_Missense_Mutation_p.E613K|TTLL5_ENST00000555422.1_3'UTR	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	599					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		TGAAGATGAAGAACAGGAGGC	0.403																																						ENST00000298832.9																			0				NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50						c.(1795-1797)Gaa>Aaa		tubulin tyrosine ligase-like family, member 5							77.0	75.0	76.0					14																	76232491		2203	4300	6503	SO:0001583	missense	23093				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	g.chr14:76232491G>A	AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.1795G>A	14.37:g.76232491G>A	ENSP00000298832:p.Glu599Lys					TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000554510.1_Missense_Mutation_p.E108K|TTLL5_ENST00000557636.1_Missense_Mutation_p.E613K|TTLL5_ENST00000556893.1_Missense_Mutation_p.E150K	p.E599K	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	20	2000	+			599					B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Missense_Mutation	SNP	ENST00000298832.9	37	c.1795G>A	CCDS32124.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.819441	0.71028	.	.	ENSG00000119685	ENST00000418433;ENST00000557636;ENST00000298832;ENST00000393826;ENST00000556893;ENST00000554510	T;T;T;T	0.27256	3.8;3.91;1.76;1.68	5.0	5.0	0.66597	.	0.757669	0.13115	N	0.412667	T	0.26882	0.0658	L	0.40543	1.245	0.38061	D	0.936089	P;P;P	0.50443	0.493;0.893;0.935	B;B;P	0.45310	0.295;0.438;0.476	T	0.07290	-1.0780	10	0.15952	T	0.53	.	16.1352	0.81481	0.0:0.0:1.0:0.0	.	613;150;599	G3V2J9;Q6EMB2-2;Q6EMB2	.;.;TTLL5_HUMAN	K	286;613;599;150;150;108	ENSP00000450713:E613K;ENSP00000298832:E599K;ENSP00000452524:E150K;ENSP00000451946:E108K	ENSP00000298832:E599K	E	+	1	0	TTLL5	75302244	1.000000	0.71417	0.998000	0.56505	0.929000	0.56500	4.735000	0.62051	2.331000	0.79229	0.558000	0.71614	GAA		0.403	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072		12	19	0	0	0	1	0	12	19				
DCXR	51181	broad.mit.edu	37	17	79994778	79994778	+	Silent	SNP	G	G	A			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr17:79994778G>A	ENST00000306869.2	-	3	311	c.262C>T	c.(262-264)Ctg>Ttg	p.L88L	RP13-650J16.1_ENST00000584705.1_RNA|DCXR_ENST00000584318.1_Intron|RP13-650J16.1_ENST00000582558.1_RNA	NM_001195218.1|NM_016286.3	NP_001182147.1|NP_057370.1	Q7Z4W1	DCXR_HUMAN	dicarbonyl/L-xylulose reductase	88					D-xylose metabolic process (GO:0042732)|glucose metabolic process (GO:0006006)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|protein homotetramerization (GO:0051289)|xylulose metabolic process (GO:0005997)	brush border (GO:0005903)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)	L-xylulose reductase (NADP+) activity (GO:0050038)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)			kidney(1)|lung(3)	4	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GGCTGCAGCAGGGCGACAGCG	0.687																																						ENST00000306869.2																			0				kidney(1)|lung(3)	4						c.(262-264)Ctg>Ttg		dicarbonyl/L-xylulose reductase							42.0	37.0	39.0					17																	79994778		2203	4300	6503	SO:0001819	synonymous_variant	51181				D-xylose metabolic process|glucose metabolic process|protein homotetramerization|xylulose metabolic process	membrane	binding|L-xylulose reductase (NADP+) activity	g.chr17:79994778G>A	AB013846	CCDS11799.1	17q25.3	2011-09-14				ENSG00000169738	1.1.1.10	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18985	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 20C, member 1"""	608347				11882650, 19027726	Standard	NM_016286		Approved	KIDCR, DCR, SDR20C1	uc002kdg.3	Q7Z4W1		ENST00000306869.2:c.262C>T	17.37:g.79994778G>A						DCXR_ENST00000584318.1_Intron	p.L88L	NM_001195218.1|NM_016286.3	NP_001182147.1|NP_057370.1	Q7Z4W1	DCXR_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		3	311	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		88					Q9BTZ3|Q9UHY9	Silent	SNP	ENST00000306869.2	37	c.262C>T	CCDS11799.1																																																																																				0.687	DCXR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442153.2			17	14	0	0	0	1	0	17	14				
IGF2BP3	10643	broad.mit.edu	37	7	23391160	23391160	+	Silent	SNP	C	C	T			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr7:23391160C>T	ENST00000258729.3	-	6	803	c.447G>A	c.(445-447)ttG>ttA	p.L149L	IGF2BP3_ENST00000491719.1_5'UTR	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	149	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation regulator activity (GO:0045182)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						AGGCTACTTTCAAGGTGAAAT	0.527																																						ENST00000258729.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						c.(445-447)ttG>ttA		insulin-like growth factor 2 mRNA binding protein 3							40.0	45.0	43.0					7																	23391160		2203	4300	6503	SO:0001819	synonymous_variant	10643				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr7:23391160C>T	AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231		"""RNA binding motif (RRM) containing"""	28868	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 3"", ""cancer/testis antigen 98"""	608259				9891060, 9178771	Standard	NM_006547		Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.447G>A	7.37:g.23391160C>T						IGF2BP3_ENST00000491719.1_5'UTR	p.L149L	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN			6	803	-			149			RRM 2.		A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Silent	SNP	ENST00000258729.3	37	c.447G>A	CCDS5382.1																																																																																				0.527	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250243.2	NM_006547		19	43	0	0	0	1	0	19	43				
RPL3L	6123	broad.mit.edu	37	16	1995899	1995899	+	Silent	SNP	G	G	A			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr16:1995899G>A	ENST00000268661.7	-	8	1078	c.984C>T	c.(982-984)aaC>aaT	p.N328N	MSRB1_ENST00000564908.1_5'Flank|MSRB1_ENST00000399753.2_5'Flank|MSRB1_ENST00000361871.3_5'Flank	NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	328					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|ribosome (GO:0005840)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						TGACGAAGTCGTTGTTCACTT	0.612																																						ENST00000268661.7																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(982-984)aaC>aaT		ribosomal protein L3-like							142.0	121.0	128.0					16																	1995899		2198	4300	6498	SO:0001819	synonymous_variant	6123				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome	g.chr16:1995899G>A	U65581	CCDS10450.1	16p13.3	2008-02-05			ENSG00000140986	ENSG00000140986		"""L ribosomal proteins"""	10351	protein-coding gene	gene with protein product						8921388	Standard	NM_005061		Approved		uc002cnh.3	Q92901	OTTHUMG00000128685	ENST00000268661.7:c.984C>T	16.37:g.1995899G>A							p.N328N	NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN			8	1078	-			328						Silent	SNP	ENST00000268661.7	37	c.984C>T	CCDS10450.1																																																																																				0.612	RPL3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250582.2	NM_005061		22	43	0	0	0	1	0	22	43				
CCBL1	883	broad.mit.edu	37	9	131600040	131600040	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr9:131600040G>A	ENST00000302586.3	-	6	653	c.491C>T	c.(490-492)cCc>cTc	p.P164L	CCBL1_ENST00000320665.6_Missense_Mutation_p.P114L|CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000436267.2_Missense_Mutation_p.P258L	NM_001122671.1|NM_004059.4	NP_001116143.1|NP_004050.3	Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	164					cellular amino acid biosynthetic process (GO:0008652)|cellular modified amino acid metabolic process (GO:0006575)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine catabolic process (GO:0097053)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|glutamine-phenylpyruvate transaminase activity (GO:0047316)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-glutamine:pyruvate aminotransferase activity (GO:0047945)|L-phenylalanine-oxaloacetate transaminase activity (GO:0036141)|L-phenylalanine:pyruvate aminotransferase activity (GO:0047312)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)	CAGCTCCATGGGGTCCAGCTG	0.597																																						ENST00000436267.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18						c.(772-774)cCc>cTc		cysteine conjugate-beta lyase, cytoplasmic	L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)						70.0	76.0	74.0					9																	131600040		2036	4168	6204	SO:0001583	missense	883				kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr9:131600040G>A	Y17448	CCDS43884.1, CCDS48038.1, CCDS75915.1	9q34.11	2008-03-11	2008-03-11		ENSG00000171097	ENSG00000171097	2.6.1.64		1564	protein-coding gene	gene with protein product	"""glutamine transaminase K"", ""kyneurenine aminotransferase"""	600547	"""cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase)"""			7883047	Standard	NM_001122671		Approved	KATI, GTK	uc004bwh.3	Q16773	OTTHUMG00000020767	ENST00000302586.3:c.491C>T	9.37:g.131600040G>A	ENSP00000302227:p.Pro164Leu					CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000320665.6_Missense_Mutation_p.P114L|CCBL1_ENST00000302586.3_Missense_Mutation_p.P164L	p.P258L			Q16773	KAT1_HUMAN			8	922	-			164					Q5T275|Q8N191	Missense_Mutation	SNP	ENST00000302586.3	37	c.773C>T	CCDS43884.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.463538	0.26248	.	.	ENSG00000171097	ENST00000302586;ENST00000320665;ENST00000436267;ENST00000451800;ENST00000416084	D;D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44;-2.44	5.35	5.35	0.76521	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.168568	0.53938	D	0.000054	T	0.80076	0.4557	L	0.28556	0.865	0.52501	D	0.999954	B;B;B;B	0.31625	0.332;0.04;0.061;0.013	B;B;B;B	0.29598	0.104;0.056;0.062;0.025	T	0.75306	-0.3364	10	0.11485	T	0.65	-17.6669	11.156	0.48489	0.0854:0.0:0.9146:0.0	.	258;114;164;164	B7Z4W5;Q16773-2;Q16773;Q5T278	.;.;KAT1_HUMAN;.	L	164;114;258;164;164	ENSP00000302227:P164L;ENSP00000317342:P114L;ENSP00000399415:P258L;ENSP00000390377:P164L;ENSP00000412402:P164L	ENSP00000302227:P164L	P	-	2	0	CCBL1	130639861	1.000000	0.71417	0.865000	0.33974	0.554000	0.35429	4.584000	0.60971	2.486000	0.83907	0.650000	0.86243	CCC		0.597	CCBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054521.2			46	6	0	0	0	1	0	46	6				
SERPINB10	5273	broad.mit.edu	37	18	61585320	61585320	+	Missense_Mutation	SNP	C	C	T	rs201800135		TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr18:61585320C>T	ENST00000238508.3	+	4	415	c.356C>T	c.(355-357)aCg>aTg	p.T119M		NM_005024.1	NP_005015.1	P48595	SPB10_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 10	119					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.T119M(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				GGAGAGAAAACGTATGCATTT	0.348																																						ENST00000238508.3																			1	Substitution - Missense(1)	p.T119M(1)	endometrium(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24						c.(355-357)aCg>aTg		serpin peptidase inhibitor, clade B (ovalbumin), member 10							103.0	94.0	97.0					18																	61585320		2202	4300	6502	SO:0001583	missense	5273							g.chr18:61585320C>T	U35459	CCDS11990.1	18q21.3	2014-02-18	2005-08-18		ENSG00000242550	ENSG00000242550		"""Serine (or cysteine) peptidase inhibitors"""	8942	protein-coding gene	gene with protein product	"""protease inhibitor 10 (ovalbumin type, bomapin)"""	602058	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10"""	PI10		9268635, 10871600, 24172014	Standard	NM_005024		Approved	bomapin		P48595	OTTHUMG00000060594	ENST00000238508.3:c.356C>T	18.37:g.61585320C>T	ENSP00000238508:p.Thr119Met						p.T119M	NM_005024.1	NP_005015.1					4	415	+		Esophageal squamous(42;0.131)						Q4VAX4|Q4VAX7	Missense_Mutation	SNP	ENST00000238508.3	37	c.356C>T	CCDS11990.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.520585	0.44866	.	.	ENSG00000242550	ENST00000238508	D	0.83506	-1.73	5.83	5.83	0.93111	Serpin domain (3);	0.242512	0.41500	D	0.000877	D	0.92515	0.7623	M	0.90309	3.105	0.37305	D	0.908861	D	0.89917	1.0	D	0.67231	0.95	D	0.94743	0.7920	10	0.87932	D	0	.	17.6197	0.88077	0.0:1.0:0.0:0.0	.	119	P48595	SPB10_HUMAN	M	119	ENSP00000238508:T119M	ENSP00000238508:T119M	T	+	2	0	SERPINB10	59736300	0.439000	0.25610	0.184000	0.23157	0.085000	0.17905	1.600000	0.36762	2.767000	0.95098	0.655000	0.94253	ACG		0.348	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134012.3	NM_005024		14	5	0	0	0	1	0	14	5				
UBR4	23352	broad.mit.edu	37	1	19493718	19493718	+	Missense_Mutation	SNP	C	C	G			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr1:19493718C>G	ENST00000375254.3	-	29	3934	c.3907G>C	c.(3907-3909)Gat>Cat	p.D1303H	UBR4_ENST00000375226.2_Missense_Mutation_p.D1303H|UBR4_ENST00000375267.2_Missense_Mutation_p.D1303H|UBR4_ENST00000375217.2_Missense_Mutation_p.D1303H	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1303					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTCATCTCATCTGACCAACTT	0.458																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(3907-3909)Gat>Cat		ubiquitin protein ligase E3 component n-recognin 4							86.0	85.0	86.0					1																	19493718		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19493718C>G	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.3907G>C	1.37:g.19493718C>G	ENSP00000364403:p.Asp1303His					UBR4_ENST00000375254.3_Missense_Mutation_p.D1303H|UBR4_ENST00000375217.2_Missense_Mutation_p.D1303H|UBR4_ENST00000375226.2_Missense_Mutation_p.D1303H	p.D1303H			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	29	3910	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	1303					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.3907G>C	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.359690	0.82353	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.86	5.86	0.93980	.	0.108688	0.64402	D	0.000007	T	0.64649	0.2617	N	0.14661	0.345	0.80722	D	1	P	0.45348	0.856	P	0.51582	0.674	T	0.67448	-0.5668	10	0.52906	T	0.07	.	19.7902	0.96453	0.0:1.0:0.0:0.0	.	1303	Q5T4S7	UBR4_HUMAN	H	1303;1303;1303;1303;13;519	ENSP00000364403:D1303H;ENSP00000364416:D1303H;ENSP00000364365:D1303H;ENSP00000364374:D1303H	ENSP00000364365:D1303H	D	-	1	0	UBR4	19366305	1.000000	0.71417	0.992000	0.48379	0.817000	0.46193	7.424000	0.80242	2.780000	0.95670	0.585000	0.79938	GAT		0.458	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		20	26	0	0	0	1	0	20	26				
OR4K14	122740	broad.mit.edu	37	14	20483158	20483158	+	Silent	SNP	C	C	T			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr14:20483158C>T	ENST00000305045.2	-	1	194	c.195G>A	c.(193-195)ggG>ggA	p.G65G		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		AAGCTAGGTTCCCCAGCAGGA	0.483																																						ENST00000305045.2																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37						c.(193-195)ggG>ggA		olfactory receptor, family 4, subfamily K, member 14							82.0	73.0	76.0					14																	20483158		2203	4300	6503	SO:0001819	synonymous_variant	122740				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20483158C>T		CCDS32027.1	14q11.2	2013-09-23			ENSG00000169484	ENSG00000169484		"""GPCR / Class A : Olfactory receptors"""	15352	protein-coding gene	gene with protein product							Standard	NM_001004712		Approved		uc010tky.2	Q8NGD5	OTTHUMG00000170780	ENST00000305045.2:c.195G>A	14.37:g.20483158C>T							p.G65G	NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	194	-	all_cancers(95;0.00108)		65					Q6IEU1|Q96R71	Silent	SNP	ENST00000305045.2	37	c.195G>A	CCDS32027.1																																																																																				0.483	OR4K14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410343.1			15	59	0	0	0	1	0	15	59				
DOPEY1	23033	broad.mit.edu	37	6	83855292	83855292	+	Missense_Mutation	SNP	G	G	A	rs367662678		TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr6:83855292G>A	ENST00000349129.2	+	25	5851	c.5591G>A	c.(5590-5592)cGt>cAt	p.R1864H	DOPEY1_ENST00000237163.5_Missense_Mutation_p.R1845H|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.R1855H	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1864					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GAATTGGTTCGTTCAATCAGT	0.373																																						ENST00000349129.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.(5590-5592)cGt>cAt		dopey family member 1		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	89.0	75.0	79.0		5564,5591	6.1	1.0	6		79	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	DOPEY1	NM_001199942.1,NM_015018.3	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	1855/2477,1864/2466	83855292	1,13005	2203	4300	6503	SO:0001583	missense	23033				protein transport			g.chr6:83855292G>A	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.5591G>A	6.37:g.83855292G>A	ENSP00000195654:p.Arg1864His					DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Missense_Mutation_p.R1845H|DOPEY1_ENST00000369739.3_Missense_Mutation_p.R1855H	p.R1864H	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	25	5851	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	1864					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.5591G>A	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070009	0.76301	0.0	1.16E-4	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.23950	1.88;1.88	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.32615	0.0835	L	0.40543	1.245	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.994;0.994	T	0.00870	-1.1533	10	0.15499	T	0.54	.	20.5989	0.99451	0.0:0.0:1.0:0.0	.	1755;1855;1864	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	H	1864;1845;1845	ENSP00000195654:R1864H;ENSP00000237163:R1845H	ENSP00000237163:R1845H	R	+	2	0	DOPEY1	83912011	1.000000	0.71417	0.997000	0.53966	0.320000	0.28249	9.444000	0.97578	2.871000	0.98454	0.637000	0.83480	CGT		0.373	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		7	12	0	0	0	1	0	7	12				
HIPK1	204851	broad.mit.edu	37	1	114483989	114483989	+	Silent	SNP	C	C	A			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr1:114483989C>A	ENST00000369558.1	+	2	1216	c.984C>A	c.(982-984)cgC>cgA	p.R328R	HIPK1_ENST00000369554.2_Silent_p.R328R|HIPK1_ENST00000426820.2_Silent_p.R328R|HIPK1_ENST00000369561.4_Silent_p.R328R|HIPK1_ENST00000369555.2_Silent_p.R328R|HIPK1_ENST00000369559.4_Silent_p.R328R			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	328	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATCCAGTTCGCCAGCCCTACC	0.502																																						ENST00000369558.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39						c.(982-984)cgC>cgA		homeodomain interacting protein kinase 1							155.0	144.0	147.0					1																	114483989		2203	4300	6503	SO:0001819	synonymous_variant	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114483989C>A	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.984C>A	1.37:g.114483989C>A						HIPK1_ENST00000426820.2_Silent_p.R328R|HIPK1_ENST00000369555.2_Silent_p.R328R|HIPK1_ENST00000369554.2_Silent_p.R328R|HIPK1_ENST00000369559.4_Silent_p.R328R|HIPK1_ENST00000369561.4_Silent_p.R328R	p.R328R			Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	1216	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	328			Protein kinase.		A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Silent	SNP	ENST00000369558.1	37	c.984C>A	CCDS867.1																																																																																				0.502	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		21	100	1	0	9.57634e-11	1	9.95939e-11	21	100				
OR2G6	391211	broad.mit.edu	37	1	248685017	248685017	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr1:248685017G>A	ENST00000343414.4	+	1	102	c.70G>A	c.(70-72)Gag>Aag	p.E24K		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCCTCAGCTAGAGAGGTTTCT	0.463																																						ENST00000343414.4																			0				NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(70-72)Gag>Aag		olfactory receptor, family 2, subfamily G, member 6							180.0	166.0	171.0					1																	248685017		2203	4300	6503	SO:0001583	missense	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685017G>A		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.70G>A	1.37:g.248685017G>A	ENSP00000341291:p.Glu24Lys						p.E24K	NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	102	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	24					B2RP33	Missense_Mutation	SNP	ENST00000343414.4	37	c.70G>A	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	-	14.99	2.700872	0.48307	.	.	ENSG00000188558	ENST00000343414	T	0.00297	8.23	3.83	0.537	0.17144	.	0.000000	0.44483	U	0.000443	T	0.00241	0.0007	L	0.53561	1.675	0.09310	N	1	P	0.49635	0.926	P	0.45138	0.471	T	0.50583	-0.8811	10	0.87932	D	0	.	5.9193	0.19073	0.1948:0.4473:0.3579:0.0	.	24	Q5TZ20	OR2G6_HUMAN	K	24	ENSP00000341291:E24K	ENSP00000341291:E24K	E	+	1	0	OR2G6	246751640	0.000000	0.05858	0.002000	0.10522	0.663000	0.39108	-0.110000	0.10824	0.275000	0.22094	0.400000	0.26472	GAG		0.463	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		53	45	0	0	0	1	0	53	45				
DUSP22	56940	broad.mit.edu	37	6	350858	350858	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr6:350858G>C	ENST00000344450.5	+	8	988	c.545G>C	c.(544-546)aGa>aCa	p.R182T	DUSP22_ENST00000419235.2_3'UTR|DUSP22_ENST00000604971.1_3'UTR	NM_020185.3	NP_064570.1	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	182					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GCCTTTCTCAGAAGACTGTAA	0.393																																						ENST00000344450.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26						c.(544-546)aGa>aCa		dual specificity phosphatase 22							124.0	119.0	121.0					6																	350858		2203	4300	6503	SO:0001583	missense	56940				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:350858G>C	AF165519	CCDS4468.1, CCDS69035.1	6p25.3	2013-09-19			ENSG00000112679	ENSG00000112679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	16077	protein-coding gene	gene with protein product						9205128, 11717427	Standard	NM_001286555		Approved	MKPX, JSP1, JKAP, VHX	uc003msx.3	Q9NRW4	OTTHUMG00000014113	ENST00000344450.5:c.545G>C	6.37:g.350858G>C	ENSP00000345281:p.Arg182Thr					DUSP22_ENST00000604971.1_3'UTR|DUSP22_ENST00000419235.2_3'UTR	p.R182T	NM_020185.3	NP_064570.1	Q9NRW4	DUS22_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)	8	988	+	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)	182					B4DK56|Q59GW2|Q5VWR2|Q96AR1	Missense_Mutation	SNP	ENST00000344450.5	37	c.545G>C	CCDS4468.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.311545	0.81358	.	.	ENSG00000112679	ENST00000344450	T	0.04454	3.62	5.56	5.56	0.83823	.	0.297802	0.32836	N	0.005581	T	0.06781	0.0173	L	0.36672	1.1	0.30632	N	0.757374	D	0.54601	0.967	P	0.60789	0.879	T	0.01930	-1.1245	10	0.87932	D	0	.	15.0308	0.71705	0.0:0.0:1.0:0.0	.	182	Q9NRW4	DUS22_HUMAN	T	182	ENSP00000345281:R182T	ENSP00000345281:R182T	R	+	2	0	DUSP22	295858	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.379000	0.59575	2.603000	0.88011	0.557000	0.71058	AGA		0.393	DUSP22-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000039621.1	NM_020185		11	37	0	0	0	1	0	11	37				
HLA-B	3106	broad.mit.edu	37	6	31322991	31322991	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr6:31322991G>A	ENST00000412585.2	-	5	933	c.905C>T	c.(904-906)tCc>tTc	p.S302F		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	302	Connecting peptide.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						GGTGGACTGGGAAGACGGCTC	0.597									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																													ENST00000412585.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						c.(904-906)tCc>tTc		major histocompatibility complex, class I, B							67.0	67.0	67.0					6																	31322991		1511	2709	4220	SO:0001583	missense	3106	Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	;Lichen Sclerosis, Familial				g.chr6:31322991G>A	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.905C>T	6.37:g.31322991G>A	ENSP00000399168:p.Ser302Phe						p.S302F	NM_005514.6	NP_005505.2					5	933	-								Q29764	Missense_Mutation	SNP	ENST00000412585.2	37	c.905C>T	CCDS34394.1	.	.	.	.	.	.	.	.	.	.	N	10.28	1.307181	0.23821	.	.	ENSG00000234745	ENST00000412585;ENST00000428231	T	0.00653	5.96	3.57	0.669	0.17918	Immunoglobulin-like fold (1);	0.657619	0.12355	U	0.476215	T	0.02156	0.0067	H	0.97540	4.025	0.09310	N	1	D	0.76494	0.999	D	0.85130	0.997	T	0.26224	-1.0109	10	0.87932	D	0	.	5.361	0.16087	0.3985:0.0:0.6015:0.0	.	302	P01889	1B07_HUMAN	F	302;181	ENSP00000399168:S302F	ENSP00000399168:S302F	S	-	2	0	HLA-B	31430970	0.000000	0.05858	0.008000	0.14137	0.096000	0.18686	-0.264000	0.08658	0.172000	0.19760	0.442000	0.29010	TCC		0.597	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		22	51	0	0	0	1	0	22	51				
MCC	4163	broad.mit.edu	37	5	112364641	112364641	+	Missense_Mutation	SNP	G	G	A	rs145982424		TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr5:112364641G>A	ENST00000302475.4	-	16	2862	c.2299C>T	c.(2299-2301)Cgg>Tgg	p.R767W	MCC_ENST00000408903.3_Missense_Mutation_p.R957W|MCC_ENST00000515367.2_Missense_Mutation_p.R704W|MCC_ENST00000514701.3_5'UTR	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	767					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		CTGTTGGCCCGCTTTAGATCA	0.537																																						ENST00000302475.4																			0				endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(2299-2301)Cgg>Tgg		mutated in colorectal cancers		G	TRP/ARG,TRP/ARG	1,4403	2.1+/-5.4	0,1,2201	184.0	187.0	186.0		2869,2299	2.5	0.8	5	dbSNP_134	186	0,8600		0,0,4300	no	missense,missense	MCC	NM_001085377.1,NM_002387.2	101,101	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	957/1020,767/830	112364641	1,13003	2202	4300	6502	SO:0001583	missense	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112364641G>A		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.2299C>T	5.37:g.112364641G>A	ENSP00000305617:p.Arg767Trp					MCC_ENST00000515367.2_Missense_Mutation_p.R704W|MCC_ENST00000408903.3_Missense_Mutation_p.R957W|MCC_ENST00000514701.3_5'UTR	p.R767W	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	16	2862	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	767					D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000302475.4	37	c.2299C>T	CCDS4111.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.675484	0.47781	2.27E-4	0.0	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.51071	0.72;0.72;0.72	5.63	2.45	0.29901	Usher syndrome type-1C protein-binding protein 1, PDZ domain (1);	0.182062	0.42548	D	0.000695	T	0.59998	0.2235	L	0.47716	1.5	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.993	T	0.62455	-0.6851	10	0.72032	D	0.01	-18.3931	13.3637	0.60671	0.0:0.0:0.3017:0.6983	.	957;767	P23508-2;P23508	.;CRCM_HUMAN	W	767;704;957	ENSP00000305617:R767W;ENSP00000421615:R704W;ENSP00000386227:R957W	ENSP00000305617:R767W	R	-	1	2	MCC	112392540	1.000000	0.71417	0.845000	0.33349	0.164000	0.22412	1.524000	0.35942	0.674000	0.31244	0.591000	0.81541	CGG		0.537	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377		12	175	0	0	0	1	0	12	175				
CRTAC1	55118	broad.mit.edu	37	10	99696031	99696031	+	Missense_Mutation	SNP	G	G	A	rs80014629	byFrequency	TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr10:99696031G>A	ENST00000370597.3	-	3	672	c.317C>T	c.(316-318)gCg>gTg	p.A106V	CRTAC1_ENST00000298819.4_Missense_Mutation_p.A106V|CRTAC1_ENST00000370591.2_Missense_Mutation_p.A106V	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	106						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.A106V(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		GTCCCGCAGCGCGTAGTAGGG	0.617													G|||	7	0.00139776	0.0053	0.0	5008	,	,		18551	0.0		0.0	False		,,,				2504	0.0					ENST00000370597.3																			1	Substitution - Missense(1)	p.A106V(1)	endometrium(1)	autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(316-318)gCg>gTg		cartilage acidic protein 1		G	VAL/ALA,VAL/ALA	18,4388	24.3+/-50.5	0,18,2185	66.0	54.0	58.0		317,317	4.8	1.0	10	dbSNP_131	58	0,8600		0,0,4300	yes	missense,missense	CRTAC1	NM_001206528.2,NM_018058.6	64,64	0,18,6485	AA,AG,GG		0.0,0.4085,0.1384	benign,benign	106/646,106/662	99696031	18,12988	2203	4300	6503	SO:0001583	missense	55118					proteinaceous extracellular matrix	calcium ion binding	g.chr10:99696031G>A	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.317C>T	10.37:g.99696031G>A	ENSP00000359629:p.Ala106Val					CRTAC1_ENST00000370591.2_Missense_Mutation_p.A106V|CRTAC1_ENST00000298819.4_Missense_Mutation_p.A106V	p.A106V	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)	3	672	-		Colorectal(252;0.24)	106					B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Missense_Mutation	SNP	ENST00000370597.3	37	c.317C>T	CCDS31266.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	14.45	2.537920	0.45176	0.004085	0.0	ENSG00000095713	ENST00000413387;ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591	T;T;T;T;T	0.75050	1.37;-0.9;1.27;-0.05;-0.06	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.65091	0.2658	L	0.57536	1.79	0.80722	D	1	P;P	0.50710	0.68;0.938	B;B	0.43386	0.089;0.418	T	0.68239	-0.5461	10	0.15066	T	0.55	-16.5833	17.7665	0.88480	0.0:0.0:1.0:0.0	.	106;106	Q9NQ79-2;Q9NQ79	.;CRAC1_HUMAN	V	2;106;106;98;106	ENSP00000408445:A2V;ENSP00000359629:A106V;ENSP00000298819:A106V;ENSP00000310810:A98V;ENSP00000359623:A106V	ENSP00000298819:A106V	A	-	2	0	CRTAC1	99686021	1.000000	0.71417	0.958000	0.39756	0.350000	0.29205	7.675000	0.84002	2.204000	0.70986	0.313000	0.20887	GCG		0.617	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058		28	44	0	0	0	1	0	28	44				
DENND4C	55667	broad.mit.edu	37	9	19316786	19316786	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr9:19316786G>A	ENST00000380432.2	+	8	1081	c.1048G>A	c.(1048-1050)Gag>Aag	p.E350K	DENND4C_ENST00000434457.2_Missense_Mutation_p.E586K|DENND4C_ENST00000602925.1_Missense_Mutation_p.E586K			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	350	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						ACCAATCACAGAGGCTCCTTC	0.373																																						ENST00000380432.2																			0				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1048-1050)Gag>Aag		DENN/MADD domain containing 4C							107.0	119.0	115.0					9																	19316786		2203	4300	6503	SO:0001583	missense	55667					integral to membrane		g.chr9:19316786G>A	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.1048G>A	9.37:g.19316786G>A	ENSP00000369797:p.Glu350Lys					DENND4C_ENST00000307015.9_5'UTR|DENND4C_ENST00000434457.2_Missense_Mutation_p.E586K|DENND4C_ENST00000602925.1_Missense_Mutation_p.E586K	p.E350K	NM_017925.4	NP_060395.5	Q5VZ89	DEN4C_HUMAN			8	1081	+			350			dDENN.		A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	ENST00000380432.2	37	c.1048G>A		.	.	.	.	.	.	.	.	.	.	G	17.16	3.317867	0.60524	.	.	ENSG00000137145	ENST00000380437	.	.	.	5.13	5.13	0.70059	dDENN (3);	0.740258	0.13613	N	0.375005	T	0.25269	0.0614	N	0.01277	-0.915	0.80722	D	1	P	0.40000	0.698	B	0.43990	0.438	T	0.14476	-1.0471	9	0.15952	T	0.53	-16.9453	12.9573	0.58434	0.0:0.2939:0.7061:0.0	.	350	Q5VZ89	DEN4C_HUMAN	K	350	.	ENSP00000369802:E350K	E	+	1	0	DENND4C	19306786	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.364000	0.66110	2.672000	0.90937	0.460000	0.39030	GAG		0.373	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925		44	15	0	0	0	1	0	44	15				
TGM6	343641	broad.mit.edu	37	20	2411210	2411210	+	Missense_Mutation	SNP	G	G	T			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr20:2411210G>T	ENST00000202625.2	+	11	1858	c.1797G>T	c.(1795-1797)gaG>gaT	p.E599D	TGM6_ENST00000381423.1_Missense_Mutation_p.E599D	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	599					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	TTCTGGTGGAGAAGGACATTA	0.502																																						ENST00000202625.2																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52						c.(1795-1797)gaG>gaT		transglutaminase 6	L-Glutamine(DB00130)						94.0	77.0	83.0					20																	2411210		2203	4300	6503	SO:0001583	missense	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2411210G>T	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"""Transglutaminases"""	16255	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 35"""	613900	"""transglutaminase 3-like"""	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.1797G>T	20.37:g.2411210G>T	ENSP00000202625:p.Glu599Asp					TGM6_ENST00000381423.1_Missense_Mutation_p.E599D	p.E599D	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN			11	1858	+			599					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Missense_Mutation	SNP	ENST00000202625.2	37	c.1797G>T	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.185296	0.57909	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	T;T	0.66815	-0.23;-0.23	5.88	5.88	0.94601	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.265029	0.39544	N	0.001329	T	0.76018	0.3929	L	0.49778	1.585	0.39855	D	0.973296	D;D	0.71674	0.998;0.994	D;D	0.66847	0.947;0.926	T	0.73424	-0.3987	10	0.32370	T	0.25	-39.9737	15.728	0.77777	0.0:0.0:1.0:0.0	.	599;599	O95932-2;O95932	.;TGM3L_HUMAN	D	599	ENSP00000202625:E599D;ENSP00000370831:E599D	ENSP00000202625:E599D	E	+	3	2	TGM6	2359210	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	2.268000	0.43338	2.778000	0.95560	0.655000	0.94253	GAG		0.502	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		24	23	1	0	6.36457e-07	1	6.53206e-07	24	23				
SUMF2	25870	broad.mit.edu	37	7	56140699	56140699	+	Silent	SNP	C	C	G			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr7:56140699C>G	ENST00000413756.1	+	3	257	c.234C>G	c.(232-234)gtC>gtG	p.V78V	SUMF2_ENST00000342190.6_Silent_p.V97V|SUMF2_ENST00000275607.9_5'UTR|SUMF2_ENST00000434526.2_Silent_p.V97V|SUMF2_ENST00000395435.2_Silent_p.V97V|SUMF2_ENST00000437307.2_Silent_p.V78V|SUMF2_ENST00000395436.2_Silent_p.V97V			Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	78					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum lumen (GO:0005788)	metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GGGATTTTGTCAGGGAGAAAA	0.478																																						ENST00000434526.2																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14						c.(289-291)gtC>gtG		sulfatase modifying factor 2							113.0	115.0	115.0					7																	56140699		2203	4300	6503	SO:0001819	synonymous_variant	25870					endoplasmic reticulum lumen	metal ion binding	g.chr7:56140699C>G	AK075477	CCDS5524.2, CCDS43588.2, CCDS43589.2, CCDS47589.1, CCDS55111.1	7q11.1	2004-04-30			ENSG00000129103	ENSG00000129103			20415	protein-coding gene	gene with protein product		607940				12757706	Standard	NM_015411		Approved	DKFZp566I1024	uc003trv.3	Q8NBJ7	OTTHUMG00000129373	ENST00000413756.1:c.234C>G	7.37:g.56140699C>G						SUMF2_ENST00000437307.2_Silent_p.V78V|SUMF2_ENST00000275607.9_5'UTR|SUMF2_ENST00000413756.1_Silent_p.V78V|SUMF2_ENST00000342190.6_Silent_p.V97V|SUMF2_ENST00000395436.2_Silent_p.V97V|SUMF2_ENST00000395435.2_Silent_p.V97V	p.V97V	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226.2	Q8NBJ7	SUMF2_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		3	322	+	Breast(14;0.214)		78					B4DU41|B4DWQ0|Q14DW5|Q53ZE3|Q96BH2|Q9BRN3|Q9BWI1|Q9Y405	Silent	SNP	ENST00000413756.1	37	c.291C>G																																																																																					0.478	SUMF2-013	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000341457.2	NM_015411		10	25	0	0	0	1	0	10	25				
NCK1	4690	broad.mit.edu	37	3	136664877	136664877	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr3:136664877C>T	ENST00000481752.1	+	3	843	c.679C>T	c.(679-681)Cca>Tca	p.P227S	NCK1_ENST00000469404.1_Missense_Mutation_p.P163S|NCK1_ENST00000288986.2_Missense_Mutation_p.P227S			P16333	NCK1_HUMAN	NCK adaptor protein 1	227	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of translation (GO:0006417)|response to other organism (GO:0051707)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|protein kinase inhibitor activity (GO:0004860)|receptor binding (GO:0005102)|receptor signaling complex scaffold activity (GO:0030159)|receptor tyrosine kinase binding (GO:0030971)			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						TGAAAATGACCCAGAGTGGTG	0.378																																						ENST00000469404.1																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						c.(487-489)Cca>Tca		NCK adaptor protein 1							132.0	126.0	128.0					3																	136664877		2203	4300	6503	SO:0001583	missense	4690				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity	g.chr3:136664877C>T	X17576	CCDS3092.1, CCDS54644.1	3q21	2013-02-14			ENSG00000158092	ENSG00000158092		"""SH2 domain containing"""	7664	protein-coding gene	gene with protein product		600508		NCK		7806213, 9737977	Standard	XM_005247498		Approved	NCKalpha	uc003erh.3	P16333	OTTHUMG00000159781	ENST00000481752.1:c.679C>T	3.37:g.136664877C>T	ENSP00000417273:p.Pro227Ser					NCK1_ENST00000288986.2_Missense_Mutation_p.P227S|NCK1_ENST00000481752.1_Missense_Mutation_p.P227S	p.P163S	NM_001190796.1	NP_001177725.1	P16333	NCK1_HUMAN			2	578	+			227			SH3 2.		B7Z751|D3DNE3	Missense_Mutation	SNP	ENST00000481752.1	37	c.487C>T	CCDS3092.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.541903	0.65198	.	.	ENSG00000158092	ENST00000288986;ENST00000481752;ENST00000469404	T;T;T	0.41758	0.99;0.99;0.99	6.16	6.16	0.99307	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.57577	0.2063	L	0.39020	1.185	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.995;0.997	T	0.55515	-0.8129	10	0.66056	D	0.02	-12.9661	18.3537	0.90348	0.0:1.0:0.0:0.0	.	163;227	B7Z751;P16333	.;NCK1_HUMAN	S	227;227;163	ENSP00000288986:P227S;ENSP00000417273:P227S;ENSP00000419631:P163S	ENSP00000288986:P227S	P	+	1	0	NCK1	138147567	1.000000	0.71417	1.000000	0.80357	0.383000	0.30230	7.403000	0.79983	2.937000	0.99478	0.650000	0.86243	CCA		0.378	NCK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357307.1	NM_006153		47	47	0	0	0	1	0	47	47				
OTUD7B	56957	broad.mit.edu	37	1	149916917	149916917	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr1:149916917C>A	ENST00000369135.4	-	12	1665	c.1371G>T	c.(1369-1371)gaG>gaT	p.E457D		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	457					mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			TGGACCGGGGCTCATCTCCAG	0.622																																						ENST00000369135.3																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1369-1371)gaG>gaT		OTU domain containing 7B							55.0	57.0	56.0					1																	149916917		2021	4184	6205	SO:0001583	missense	56957				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding	g.chr1:149916917C>A	AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"""OTU domain containing"""	16683	protein-coding gene	gene with protein product		611748	"""zinc finger, A20 domain containing 1"", ""OTU domain containing 7B"""	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.1371G>T	1.37:g.149916917C>A	ENSP00000358131:p.Glu457Asp						p.E457D	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)		12	1665	-	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		457					B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Missense_Mutation	SNP	ENST00000369135.4	37	c.1371G>T	CCDS41389.1	.	.	.	.	.	.	.	.	.	.	C	0.257	-1.002223	0.02128	.	.	ENSG00000163113	ENST00000369135;ENST00000543330	T	0.27256	1.68	4.99	-0.569	0.11756	.	0.099701	0.64402	D	0.000003	T	0.01254	0.0041	N	0.00599	-1.345	0.37012	D	0.89577	B	0.06786	0.001	B	0.10450	0.005	T	0.31668	-0.9935	9	.	.	.	-8.6787	0.5221	0.00614	0.3492:0.1942:0.1181:0.3385	.	457	Q6GQQ9	OTU7B_HUMAN	D	457	ENSP00000358131:E457D	.	E	-	3	2	OTUD7B	148183541	0.967000	0.33354	0.998000	0.56505	0.968000	0.65278	0.134000	0.15932	0.025000	0.15241	-0.321000	0.08615	GAG		0.622	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3	NM_020205		28	45	1	0	1.42536e-11	1	1.5024e-11	28	45				
ATRN	8455	broad.mit.edu	37	20	3614997	3614997	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr20:3614997G>C	ENST00000262919.5	+	26	3971	c.3903G>C	c.(3901-3903)tgG>tgC	p.W1301C		NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	1301					cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						CTGTGGTTTGGAAGATCAAAC	0.458																																						ENST00000262919.5																			0				breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(3901-3903)tgG>tgC		attractin							138.0	121.0	127.0					20																	3614997		2203	4300	6503	SO:0001583	missense	8455				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr20:3614997G>C	AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.3903G>C	20.37:g.3614997G>C	ENSP00000262919:p.Trp1301Cys						p.W1301C	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN			26	3971	+			1301					A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Missense_Mutation	SNP	ENST00000262919.5	37	c.3903G>C	CCDS13053.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.417029	0.83449	.	.	ENSG00000088812	ENST00000262919	T	0.50277	0.75	5.69	5.69	0.88448	.	0.140352	0.56097	D	0.000034	T	0.74412	0.3713	M	0.87971	2.92	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78553	-0.2160	10	0.87932	D	0	-9.9989	18.5913	0.91214	0.0:0.0:1.0:0.0	.	1301	O75882	ATRN_HUMAN	C	1301	ENSP00000262919:W1301C	ENSP00000262919:W1301C	W	+	3	0	ATRN	3562997	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.405000	0.97313	2.677000	0.91161	0.655000	0.94253	TGG		0.458	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	NM_139321		11	66	0	0	0	1	0	11	66				
SLC16A12	387700	broad.mit.edu	37	10	91198855	91198855	+	Silent	SNP	G	G	A	rs192441993	byFrequency	TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr10:91198855G>A	ENST00000341233.4	-	6	834	c.444C>T	c.(442-444)atC>atT	p.I148I	SLC16A12_ENST00000371790.4_Silent_p.I178I	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	148						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						CTGACATGGCGATACCATAAG	0.498													G|||	2	0.000399361	0.0	0.0	5008	,	,		19857	0.002		0.0	False		,,,				2504	0.0					ENST00000341233.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						c.(442-444)atC>atT		solute carrier family 16, member 12							120.0	115.0	117.0					10																	91198855		2203	4300	6503	SO:0001819	synonymous_variant	387700					integral to membrane|plasma membrane	symporter activity	g.chr10:91198855G>A		CCDS7404.1, CCDS7404.2	10q23.32	2013-07-18	2013-07-18		ENSG00000152779	ENSG00000152779		"""Solute carriers"""	23094	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 12"""	611910	"""solute carrier family 16 (monocarboxylic acid transporters), member 12"", ""solute carrier family 16, member 12 (monocarboxylic acid transporter 12)"""				Standard	NM_213606		Approved	MCT12	uc001kgm.3	Q6ZSM3	OTTHUMG00000018714	ENST00000341233.4:c.444C>T	10.37:g.91198855G>A						SLC16A12_ENST00000371790.4_Silent_p.I178I	p.I148I	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN			6	834	-			148					Q5M9M9|Q5T7J2|Q6ZV76	Silent	SNP	ENST00000341233.4	37	c.444C>T																																																																																					0.498	SLC16A12-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_213606		20	140	0	0	0	1	0	20	140				
EPPK1	83481	broad.mit.edu	37	8	144940732	144940732	+	Silent	SNP	C	C	T			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr8:144940732C>T	ENST00000525985.1	-	2	6761	c.6690G>A	c.(6688-6690)ctG>ctA	p.L2230L				P58107	EPIPL_HUMAN	epiplakin 1	2230						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)	p.L2230L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGCGGGCACCAGGACGCCCG	0.687																																						ENST00000525985.1																			1	Substitution - coding silent(1)	p.L2230L(1)	kidney(1)	NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6688-6690)ctG>ctA		epiplakin 1																																				SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940732C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6690G>A	8.37:g.144940732C>T							p.L2230L			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	6761	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2230					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.6690G>A																																																																																					0.687	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		6	151	0	0	0	1	0	6	151				
LINC01410	103352539	broad.mit.edu	37	9	66457499	66457499	+	lincRNA	SNP	G	G	A			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr9:66457499G>A	ENST00000424345.1	+	0	67				RNA5SP283_ENST00000365604.1_RNA																							GTTGCTTTGGGGGTGCGTTTC	0.547																																						ENST00000424345.1																			0																																																			0							g.chr9:66457499G>A																													9.37:g.66457499G>A														0	67	+									RNA	SNP	ENST00000424345.1	37																																																																																						0.547	RP11-262H14.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000128851.1			4	11	0	0	0	1	0	4	11				
FAM135B	51059	broad.mit.edu	37	8	139151238	139151238	+	Missense_Mutation	SNP	G	G	T			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr8:139151238G>T	ENST00000395297.1	-	18	4062	c.3892C>A	c.(3892-3894)Caa>Aaa	p.Q1298K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1298										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CCTGTTTTTTGGCTTAGTTGG	0.438										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(3892-3894)Caa>Aaa		family with sequence similarity 135, member B							115.0	111.0	112.0					8																	139151238		1877	4117	5994	SO:0001583	missense	51059							g.chr8:139151238G>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3892C>A	8.37:g.139151238G>T	ENSP00000378710:p.Gln1298Lys	HNSCC(54;0.14)					p.Q1298K	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		18	4062	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1298					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.3892C>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	19.75	3.884815	0.72410	.	.	ENSG00000147724	ENST00000395297	T	0.42513	0.97	5.48	5.48	0.80851	Domain of unknown function DUF676, lipase-like (1);	0.000000	0.85682	D	0.000000	T	0.33440	0.0863	N	0.16201	0.385	0.53688	D	0.999971	P	0.39094	0.659	B	0.43658	0.426	T	0.06391	-1.0829	10	0.14656	T	0.56	-17.2504	18.3244	0.90248	0.0:0.0:1.0:0.0	.	1298	Q49AJ0	F135B_HUMAN	K	1298	ENSP00000378710:Q1298K	ENSP00000378710:Q1298K	Q	-	1	0	FAM135B	139220420	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.906000	0.69900	2.586000	0.87340	0.655000	0.94253	CAA		0.438	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		16	22	1	0	5.01169e-05	1	5.07678e-05	16	22				
ATP4A	495	broad.mit.edu	37	19	36051399	36051399	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr19:36051399G>A	ENST00000262623.3	-	6	681	c.653C>T	c.(652-654)gCg>gTg	p.A218V		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	218					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)	p.A218V(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GCCCTGGGCCGCCAGGATGCG	0.637																																						ENST00000262623.3																			1	Substitution - Missense(1)	p.A218V(1)	endometrium(1)	breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(652-654)gCg>gTg		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						64.0	60.0	61.0					19																	36051399		2203	4300	6503	SO:0001583	missense	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36051399G>A		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.653C>T	19.37:g.36051399G>A	ENSP00000262623:p.Ala218Val						p.A218V	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		6	681	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		218					O00738	Missense_Mutation	SNP	ENST00000262623.3	37	c.653C>T	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	g	17.98	3.519851	0.64634	.	.	ENSG00000105675	ENST00000262623	D	0.90955	-2.76	4.16	3.11	0.35812	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.516425	0.17470	N	0.173108	D	0.82953	0.5149	L	0.31420	0.93	0.29003	N	0.887347	P	0.35348	0.496	B	0.31390	0.129	T	0.77645	-0.2510	10	0.54805	T	0.06	.	9.8781	0.41216	0.0:0.0:0.7289:0.2711	.	218	P20648	ATP4A_HUMAN	V	218	ENSP00000262623:A218V	ENSP00000262623:A218V	A	-	2	0	ATP4A	40743239	0.023000	0.18921	0.860000	0.33809	0.962000	0.63368	1.969000	0.40510	0.976000	0.38417	0.486000	0.48141	GCG		0.637	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		57	100	0	0	0	1	0	57	100				
PPP2R1A	5518	broad.mit.edu	37	19	52715983	52715983	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr19:52715983G>A	ENST00000322088.6	+	5	606	c.548G>A	c.(547-549)cGg>cAg	p.R183Q	PPP2R1A_ENST00000462990.1_Missense_Mutation_p.R4Q|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.R128Q	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	183	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.R183Q(10)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		ATGGTGCGGCGGGCCGCAGCC	0.617			Mis		clear cell ovarian carcinoma																																	ENST00000322088.6				Dom?	yes		19	19q13.41	5518	Mis	"""protein phosphatase 2, regulatory subunit A, alpha"""			E			clear cell ovarian carcinoma		10	Substitution - Missense(10)	p.R183Q(10)	ovary(6)|endometrium(2)|prostate(1)|large_intestine(1)	NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135						c.(547-549)cGg>cAg		protein phosphatase 2, regulatory subunit A, alpha							75.0	60.0	65.0					19																	52715983		2203	4300	6503	SO:0001583	missense	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52715983G>A		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.548G>A	19.37:g.52715983G>A	ENSP00000324804:p.Arg183Gln					PPP2R1A_ENST00000444322.2_Missense_Mutation_p.R128Q|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.R4Q	p.R183Q	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	5	606	+			183			PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.548G>A	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	G	36	5.603708	0.96626	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.06294	3.32;3.32	4.5	4.5	0.54988	Armadillo-like helical (1);Armadillo-type fold (1);	0.114427	0.37136	N	0.002231	T	0.36690	0.0976	H	0.96333	3.805	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.999;0.999	D;P;P	0.72982	0.979;0.859;0.859	T	0.55218	-0.8175	10	0.87932	D	0	-15.4468	15.1188	0.72426	0.0:0.0:1.0:0.0	.	128;183;183	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	Q	173;103;183;128	ENSP00000324804:R183Q;ENSP00000415067:R128Q	ENSP00000324804:R183Q	R	+	2	0	PPP2R1A	57407795	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	8.489000	0.90461	2.503000	0.84419	0.655000	0.94253	CGG		0.617	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		91	12	0	0	0	1	0	91	12				
GBP5	115362	broad.mit.edu	37	1	89730615	89730615	+	Silent	SNP	G	G	A			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr1:89730615G>A	ENST00000370459.3	-	7	1030	c.903C>T	c.(901-903)gcC>gcT	p.A301A	GBP5_ENST00000471171.1_5'Flank|RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000343435.5_Silent_p.A301A			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	301	GTPase domain (Globular). {ECO:0000250}.					cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		CACTGCTGATGGCATTGACAT	0.443																																						ENST00000343435.5																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24						c.(901-903)gcC>gcT		guanylate binding protein 5							91.0	82.0	85.0					1																	89730615		2203	4300	6503	SO:0001819	synonymous_variant	115362					plasma membrane	GTP binding|GTPase activity	g.chr1:89730615G>A	AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.903C>T	1.37:g.89730615G>A						GBP5_ENST00000481145.1_5'UTR|RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Silent_p.A301A	p.A301A	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN		all cancers(265;0.00784)|Epithelial(280;0.0286)	8	1439	-			301					B2RCE1|Q86TM5	Silent	SNP	ENST00000370459.3	37	c.903C>T	CCDS722.1																																																																																				0.443	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027700.1	NM_052942		23	42	0	0	0	1	0	23	42				
NOSIP	51070	broad.mit.edu	37	19	50062164	50062164	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr19:50062164C>T	ENST00000596358.1	-	4	306	c.248G>A	c.(247-249)cGg>cAg	p.R83Q	NOSIP_ENST00000391853.3_Missense_Mutation_p.R83Q|NOSIP_ENST00000339093.3_Missense_Mutation_p.R83Q	NM_001270960.1	NP_001257889.1	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	83					negative regulation of catalytic activity (GO:0043086)|negative regulation of nitric-oxide synthase activity (GO:0051001)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		CTTCATCTGCCGGGCAATCTC	0.562																																						ENST00000391853.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11						c.(247-249)cGg>cAg		nitric oxide synthase interacting protein							342.0	328.0	333.0					19																	50062164		2203	4300	6503	SO:0001583	missense	0				negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process	cytosol|nucleus	protein binding	g.chr19:50062164C>T	AF132959	CCDS12772.1	19q13.3	2008-02-05				ENSG00000142546			17946	protein-coding gene	gene with protein product						11149895, 10810093	Standard	NM_015953		Approved	CGI-25	uc002pol.4	Q9Y314		ENST00000596358.1:c.248G>A	19.37:g.50062164C>T	ENSP00000470034:p.Arg83Gln					NOSIP_ENST00000596358.1_Missense_Mutation_p.R83Q|NOSIP_ENST00000339093.3_Missense_Mutation_p.R83Q	p.R83Q	NM_015953.3	NP_057037.1	Q9Y314	NOSIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)	5	399	-		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)	83					Q96FD2	Missense_Mutation	SNP	ENST00000596358.1	37	c.248G>A	CCDS12772.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034950	0.75617	.	.	ENSG00000142546	ENST00000339093;ENST00000391853	T;T	0.75589	-0.95;-0.95	5.24	4.19	0.49359	.	0.069556	0.56097	D	0.000039	T	0.74913	0.3779	M	0.68593	2.085	0.49483	D	0.999796	D	0.60575	0.988	P	0.45506	0.483	T	0.78715	-0.2096	10	0.72032	D	0.01	-23.0032	14.0498	0.64730	0.1525:0.8475:0.0:0.0	.	83	Q9Y314	NOSIP_HUMAN	Q	83	ENSP00000343497:R83Q;ENSP00000375726:R83Q	ENSP00000343497:R83Q	R	-	2	0	NOSIP	54753976	1.000000	0.71417	0.998000	0.56505	0.639000	0.38242	3.858000	0.55979	1.173000	0.42796	0.462000	0.41574	CGG		0.562	NOSIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465423.1			15	428	0	0	0	1	0	15	428				
HIST1H2BF	8343	broad.mit.edu	37	6	26200068	26200068	+	Silent	SNP	G	G	A			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr6:26200068G>A	ENST00000359985.1	+	1	321	c.282G>A	c.(280-282)gaG>gaA	p.E94E	HIST1H2AD_ENST00000341023.1_5'Flank|HIST1H3D_ENST00000377831.5_5'Flank|HIST1H3D_ENST00000356476.2_5'Flank	NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	94					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				CCTCCAGGGAGATCCAGACGG	0.602																																						ENST00000359985.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17						c.(280-282)gaG>gaA		histone cluster 1, H2bf							85.0	89.0	88.0					6																	26200068		2203	4299	6502	SO:0001819	synonymous_variant	8343				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26200068G>A	Z80779	CCDS4592.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197846	ENSG00000277224		"""Histones / Replication-dependent"""	4752	protein-coding gene	gene with protein product		602804	"""H2B histone family, member G"", ""histone 1, H2bf"""	H2BFG		9119399, 12408966	Standard	NM_003522		Approved	H2B/g	uc003ngx.3	P62807	OTTHUMG00000014445	ENST00000359985.1:c.282G>A	6.37:g.26200068G>A							p.E94E	NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN			1	321	+		all_hematologic(11;0.196)	94					P02278|Q3B872|Q4VB69|Q93078|Q93080	Silent	SNP	ENST00000359985.1	37	c.282G>A	CCDS4592.1																																																																																				0.602	HIST1H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040108.1	NM_003522		69	120	0	0	0	1	0	69	120				
MYCBP2	23077	broad.mit.edu	37	13	77792029	77792029	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr13:77792029G>C	ENST00000544440.2	-	21	2906	c.2889C>G	c.(2887-2889)aaC>aaG	p.N963K	MYCBP2_ENST00000407578.2_Missense_Mutation_p.N1001K|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.N963K					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CTGCCGTATGGTTGCTGCCTG	0.378																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(3001-3003)aaC>aaG		MYC binding protein 2, E3 ubiquitin protein ligase							119.0	120.0	120.0					13																	77792029		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77792029G>C	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.2889C>G	13.37:g.77792029G>C	ENSP00000444596:p.Asn963Lys					MYCBP2_ENST00000357337.6_Missense_Mutation_p.N963K|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.N963K	p.N1001K	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	21	3269	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	963						Missense_Mutation	SNP	ENST00000544440.2	37	c.3003C>G		.	.	.	.	.	.	.	.	.	.	G	18.58	3.654301	0.67472	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	D;D;D	0.85088	-1.94;-1.94;-1.94	5.82	4.09	0.47781	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.89417	0.6709	M	0.64567	1.98	0.52501	D	0.999958	D	0.62365	0.991	D	0.76575	0.988	D	0.87955	0.2726	10	0.54805	T	0.06	.	8.6285	0.33904	0.2867:0.0:0.7133:0.0	.	963	O75592	MYCB2_HUMAN	K	963;1001;963	ENSP00000349892:N963K;ENSP00000384288:N1001K;ENSP00000444596:N963K	ENSP00000349892:N963K	N	-	3	2	MYCBP2	76690030	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.335000	0.52105	0.800000	0.34041	0.585000	0.79938	AAC		0.378	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		25	85	0	0	0	1	0	25	85				
ZNF781	163115	broad.mit.edu	37	19	38160916	38160916	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr19:38160916C>T	ENST00000590008.1	-	5	986	c.134G>A	c.(133-135)cGt>cAt	p.R45H	ZNF781_ENST00000358582.4_Missense_Mutation_p.R45H|ZNF781_ENST00000593040.1_5'Flank|ZFP30_ENST00000586732.1_Intron			Q8N8C0	ZN781_HUMAN	zinc finger protein 781	45					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						AAGGTGGGCACGCTTTCTAAA	0.383																																						ENST00000358582.4																			0				NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(133-135)cGt>cAt		zinc finger protein 781							181.0	175.0	177.0					19																	38160916		2203	4300	6503	SO:0001583	missense	163115				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38160916C>T	AK097019	CCDS12507.1	19q13.12	2013-01-08				ENSG00000196381		"""Zinc fingers, C2H2-type"""	26745	protein-coding gene	gene with protein product							Standard	NM_152605		Approved	FLJ37549	uc002ogy.2	Q8N8C0		ENST00000590008.1:c.134G>A	19.37:g.38160916C>T	ENSP00000466370:p.Arg45His					ZNF781_ENST00000590008.1_Missense_Mutation_p.R45H|ZFP30_ENST00000586732.1_Intron	p.R45H	NM_152605.3	NP_689818.2	Q8N8C0	ZN781_HUMAN			4	882	-			45					Q2VPJ8	Missense_Mutation	SNP	ENST00000590008.1	37	c.134G>A	CCDS12507.1	.	.	.	.	.	.	.	.	.	.	C	0.167	-1.075803	0.01903	.	.	ENSG00000196381	ENST00000358582;ENST00000545586	T	0.08370	3.1	2.58	-5.15	0.02866	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04497	0.0123	L	0.31065	0.9	0.09310	N	1	B	0.24426	0.103	B	0.13407	0.009	T	0.30909	-0.9962	9	0.36615	T	0.2	.	2.4171	0.04438	0.1231:0.1378:0.2135:0.5256	.	45	Q8N8C0	ZN781_HUMAN	H	45	ENSP00000351391:R45H	ENSP00000351391:R45H	R	-	2	0	ZNF781	42852756	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.368000	0.02580	-2.454000	0.00540	-1.876000	0.00548	CGT		0.383	ZNF781-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000459495.2	NM_152605		127	98	0	0	0	1	0	127	98				
ITPKB	3707	broad.mit.edu	37	1	226827357	226827357	+	Silent	SNP	T	T	C	rs552071294		TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr1:226827357T>C	ENST00000272117.3	-	5	2453	c.2454A>G	c.(2452-2454)aaA>aaG	p.K818K	ITPKB_ENST00000429204.1_Silent_p.K818K			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	818					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				TGCCGTCTTCTTTCTGAGAAA	0.567																																					Colon(84;110 1851 5306 33547)	ENST00000429204.1																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30						c.(2452-2454)aaA>aaG		inositol-trisphosphate 3-kinase B							106.0	99.0	101.0					1																	226827357		2203	4300	6503	SO:0001819	synonymous_variant	3707						ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr1:226827357T>C	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.2454A>G	1.37:g.226827357T>C						ITPKB_ENST00000272117.3_Silent_p.K818K	p.K818K	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN			6	2781	-		Prostate(94;0.0773)	818					Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Silent	SNP	ENST00000272117.3	37	c.2454A>G	CCDS1555.1																																																																																				0.567	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		18	37	0	0	0	1	0	18	37				
MAN2C1	4123	broad.mit.edu	37	15	75653473	75653473	+	Silent	SNP	G	G	C			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr15:75653473G>C	ENST00000267978.5	-	12	1420	c.1374C>G	c.(1372-1374)ctC>ctG	p.L458L	MAN2C1_ENST00000563539.1_5'Flank|MAN2C1_ENST00000563622.1_Silent_p.L359L|MAN2C1_ENST00000565683.1_Silent_p.L458L|MAN2C1_ENST00000569482.1_Silent_p.L458L	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	458					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						CAAAGCCAAAGAGGAAGGCAC	0.647																																						ENST00000565683.1																			0				central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(1372-1374)ctC>ctG		mannosidase, alpha, class 2C, member 1							54.0	57.0	56.0					15																	75653473		2197	4294	6491	SO:0001819	synonymous_variant	4123				mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding	g.chr15:75653473G>C	AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.1374C>G	15.37:g.75653473G>C						MAN2C1_ENST00000563622.1_Silent_p.L359L|MAN2C1_ENST00000267978.5_Silent_p.L458L|MAN2C1_ENST00000569482.1_Silent_p.L458L	p.L458L	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN			12	1385	-			458					H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Silent	SNP	ENST00000267978.5	37	c.1374C>G	CCDS32298.1																																																																																				0.647	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419965.1			12	3	0	0	0	1	0	12	3				
CDH9	1007	broad.mit.edu	37	5	26881650	26881650	+	Silent	SNP	G	G	A			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr5:26881650G>A	ENST00000231021.4	-	12	2137	c.1965C>T	c.(1963-1965)aaC>aaT	p.N655N		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	655					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						AGGTCACAATGTTGTCCCGGA	0.413																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(1963-1965)aaC>aaT		cadherin 9, type 2 (T1-cadherin)							135.0	139.0	138.0					5																	26881650		2203	4300	6503	SO:0001819	synonymous_variant	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26881650G>A	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1965C>T	5.37:g.26881650G>A							p.N655N	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			12	2137	-			655					Q3B7I5	Silent	SNP	ENST00000231021.4	37	c.1965C>T	CCDS3893.1																																																																																				0.413	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		31	93	0	0	0	1	0	31	93				
DIP2A	23181	broad.mit.edu	37	21	47961709	47961709	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr21:47961709C>A	ENST00000417564.2	+	18	2098	c.2077C>A	c.(2077-2079)Ctg>Atg	p.L693M	DIP2A_ENST00000427143.2_Missense_Mutation_p.L629M|DIP2A_ENST00000318711.7_Missense_Mutation_p.L694M|DIP2A_ENST00000457905.3_Missense_Mutation_p.L693M|DIP2A_ENST00000435722.3_Missense_Mutation_p.L693M|DIP2A_ENST00000400274.1_Missense_Mutation_p.L689M|DIP2A_ENST00000466639.1_Missense_Mutation_p.L650M			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	693					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		AAAAGCAGTCCTGTCGATGAA	0.488																																						ENST00000318711.7																			0				cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2080-2082)Ctg>Atg		DIP2 disco-interacting protein 2 homolog A (Drosophila)							124.0	125.0	125.0					21																	47961709		1941	4142	6083	SO:0001583	missense	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47961709C>A	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.2077C>A	21.37:g.47961709C>A	ENSP00000392066:p.Leu693Met					DIP2A_ENST00000427143.2_Missense_Mutation_p.L629M|DIP2A_ENST00000417564.2_Missense_Mutation_p.L693M|DIP2A_ENST00000400274.1_Missense_Mutation_p.L689M|DIP2A_ENST00000457905.3_Missense_Mutation_p.L693M|DIP2A_ENST00000435722.3_Missense_Mutation_p.L693M|DIP2A_ENST00000466639.1_Missense_Mutation_p.L650M	p.L694M	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	18	2263	+	Breast(49;0.0933)		693					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	ENST00000417564.2	37	c.2080C>A	CCDS46655.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.777083	0.31411	.	.	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000358985;ENST00000457905;ENST00000466639;ENST00000435722;ENST00000417564	T;T;T;T;T;T;T	0.10960	2.82;2.82;2.82;2.82;2.82;2.82;2.82	5.36	3.34	0.38264	AMP-dependent synthetase/ligase (1);	0.087210	0.47852	D	0.000219	T	0.30135	0.0755	M	0.83312	2.635	0.47441	D	0.999426	D;P;D;D;D;P;B	0.89917	0.999;0.472;1.0;0.985;1.0;0.797;0.243	D;B;D;D;D;P;B	0.91635	0.986;0.38;0.999;0.983;0.998;0.61;0.197	T	0.02411	-1.1163	10	0.66056	D	0.02	-7.4869	5.9547	0.19267	0.0:0.6192:0.0:0.3808	.	694;629;650;629;693;693;693	E9PER1;E7EMA5;Q14689-3;B4E0F0;Q14689;Q14689-4;Q14689-2	.;.;.;.;DIP2A_HUMAN;.;.	M	689;629;694;650;693;650;693;693	ENSP00000383133:L689M;ENSP00000400528:L629M;ENSP00000323633:L694M;ENSP00000393434:L693M;ENSP00000430249:L650M;ENSP00000415089:L693M;ENSP00000392066:L693M	ENSP00000323633:L694M	L	+	1	2	DIP2A	46786137	0.100000	0.21855	0.947000	0.38551	0.041000	0.13682	0.534000	0.23098	1.110000	0.41699	0.650000	0.86243	CTG		0.488	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		19	31	1	0	1.56452e-12	1	1.6949e-12	19	31				
CNTNAP3	79937	broad.mit.edu	37	9	39133037	39133037	+	Missense_Mutation	SNP	C	C	G			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr9:39133037C>G	ENST00000297668.6	-	13	2045	c.1972G>C	c.(1972-1974)Gcg>Ccg	p.A658P	CNTNAP3_ENST00000377659.1_Missense_Mutation_p.A657P|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.A570P|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.A564P|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.A657P	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	658	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				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)		GCTGCGTACGCGAAGGACACA	0.776																																						ENST00000297668.6																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24						c.(1972-1974)Gcg>Ccg		contactin associated protein-like 3							3.0	4.0	4.0					9																	39133037		1234	2550	3784	SO:0001583	missense	79937				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding	g.chr9:39133037C>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.1972G>C	9.37:g.39133037C>G	ENSP00000297668:p.Ala658Pro					CNTNAP3_ENST00000377659.1_Missense_Mutation_p.A657P|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.A564P|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.A570P|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.A657P	p.A658P	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	13	2045	-			658			Fibrinogen C-terminal.		B1AMA0|Q9C0E9	Missense_Mutation	SNP	ENST00000297668.6	37	c.1972G>C	CCDS6616.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.882796	0.33255	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144;ENST00000323947;ENST00000377659	T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.85	2.48	-3.69	0.04450	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (1);	.	.	.	.	T	0.15392	0.0371	L	0.34521	1.04	0.21527	N	0.999651	P;P;P;P;B	0.46020	0.625;0.657;0.871;0.817;0.27	B;B;P;B;B	0.47470	0.119;0.258;0.548;0.379;0.258	T	0.10474	-1.0628	9	0.35671	T	0.21	.	2.7741	0.05342	0.2123:0.3541:0.0:0.4336	.	564;658;658;657;658	E2QRH2;Q96NU0;Q9BZ76-2;A6NC89;Q9BZ76	.;CNT3B_HUMAN;.;.;CNTP3_HUMAN	P	658;657;570;564;657	ENSP00000297668:A658P;ENSP00000366884:A657P;ENSP00000350863:A570P;ENSP00000320728:A564P;ENSP00000366887:A657P	ENSP00000297668:A658P	A	-	1	0	CNTNAP3	39123037	0.978000	0.34361	0.021000	0.16686	0.050000	0.14768	0.102000	0.15272	-0.786000	0.04516	0.454000	0.30748	GCG		0.776	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		3	6	0	0	0	1	0	3	6				
ZFP14	57677	broad.mit.edu	37	19	36832073	36832073	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr19:36832073G>A	ENST00000270001.7	-	5	770	c.655C>T	c.(655-657)Cac>Tac	p.H219Y		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	219					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					TGAAGTTTGTGATGTCGAATA	0.443																																						ENST00000270001.7																			0				NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26						c.(655-657)Cac>Tac		ZFP14 zinc finger protein							125.0	113.0	117.0					19																	36832073		2203	4300	6503	SO:0001583	missense	57677				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36832073G>A	AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"""Zinc fingers, C2H2-type"", ""-"""	29312	protein-coding gene	gene with protein product			"""zinc finger protein 14 homolog (mouse)"""			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.655C>T	19.37:g.36832073G>A	ENSP00000270001:p.His219Tyr						p.H219Y	NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN			5	770	-	Esophageal squamous(110;0.162)		219					A7MD23	Missense_Mutation	SNP	ENST00000270001.7	37	c.655C>T	CCDS33002.1	.	.	.	.	.	.	.	.	.	.	g	10.40	1.338816	0.24253	.	.	ENSG00000142065	ENST00000270001;ENST00000392172	T	0.07216	3.21	3.85	3.85	0.44370	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45606	D	0.000345	T	0.06371	0.0164	N	0.20530	0.585	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.15052	0.012;0.012	T	0.20840	-1.0263	10	0.87932	D	0	.	10.9646	0.47406	0.0:0.0:0.8122:0.1878	.	219;219	A8KAN8;Q9HCL3	.;ZFP14_HUMAN	Y	219	ENSP00000270001:H219Y	ENSP00000270001:H219Y	H	-	1	0	ZFP14	41523913	0.983000	0.35010	1.000000	0.80357	0.990000	0.78478	2.447000	0.44917	2.139000	0.66308	0.549000	0.68633	CAC		0.443	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452528.1	NM_020917		30	144	0	0	0	1	0	30	144				
TLN2	83660	broad.mit.edu	37	15	62942335	62942335	+	Missense_Mutation	SNP	G	G	T			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr15:62942335G>T	ENST00000561311.1	+	4	419	c.189G>T	c.(187-189)tgG>tgT	p.W63C	TLN2_ENST00000306829.6_Missense_Mutation_p.W63C			Q9Y4G6	TLN2_HUMAN	talin 2	63					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AAGGGATTTGGCTGGAAGCGG	0.478																																						ENST00000561311.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(187-189)tgG>tgT		talin 2							142.0	131.0	135.0					15																	62942335		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:62942335G>T	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.189G>T	15.37:g.62942335G>T	ENSP00000453508:p.Trp63Cys					TLN2_ENST00000306829.6_Missense_Mutation_p.W63C	p.W63C			Q9Y4G6	TLN2_HUMAN			4	419	+			63					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.189G>T	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.747313	0.89663	.	.	ENSG00000171914	ENST00000306829	D	0.90133	-2.62	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	D	0.96457	0.8844	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96553	0.9409	10	0.87932	D	0	-10.2661	19.4659	0.94939	0.0:0.0:1.0:0.0	.	63	Q9Y4G6	TLN2_HUMAN	C	63	ENSP00000303476:W63C	ENSP00000303476:W63C	W	+	3	0	TLN2	60729627	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.409000	0.97331	2.840000	0.97914	0.655000	0.94253	TGG		0.478	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			40	6	1	0	1.30998e-17	1	1.43914e-17	40	6				
TNRC18	84629	broad.mit.edu	37	7	5352339	5352339	+	Missense_Mutation	SNP	G	G	A	rs569812690		TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr7:5352339G>A	ENST00000430969.1	-	27	8531	c.8183C>T	c.(8182-8184)gCg>gTg	p.A2728V	TNRC18_ENST00000399537.4_Missense_Mutation_p.A2728V	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2728							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CGGAGGAGGCGCCTGGGGCTG	0.736													G|||	1	0.000199681	0.0	0.0	5008	,	,		8514	0.0		0.001	False		,,,				2504	0.0					ENST00000399537.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(8182-8184)gCg>gTg		trinucleotide repeat containing 18							9.0	11.0	10.0					7																	5352339		1259	2824	4083	SO:0001583	missense	84629						DNA binding	g.chr7:5352339G>A	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.8183C>T	7.37:g.5352339G>A	ENSP00000395538:p.Ala2728Val					TNRC18_ENST00000430969.1_Missense_Mutation_p.A2728V	p.A2728V			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	27	8531	-		Ovarian(82;0.142)	2728					A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	c.8183C>T	CCDS47534.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	6.006|6.006	0.369530|0.369530	0.11352|0.11352	.|.	.|.	ENSG00000182095|ENSG00000182095	ENST00000399537;ENST00000430969|ENST00000399544	T;T|.	0.04970|.	3.52;3.52|.	4.01|4.01	0.795|0.795	0.18643|0.18643	.|.	.|1.973690	.|0.03209	.|N	.|0.175888	T|T	0.26085|0.26085	0.0636|0.0636	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	B|.	0.17268|.	0.021|.	B|.	0.08055|.	0.003|.	T|T	0.29640|0.29640	-1.0005|-1.0005	9|7	0.29301|0.87932	T|D	0.29|0	.|.	1.5778|1.5778	0.02628|0.02628	0.1761:0.1287:0.4183:0.2768|0.1761:0.1287:0.4183:0.2768	.|.	2728|.	O15417|.	TNC18_HUMAN|.	V|C	2728|1241	ENSP00000382452:A2728V;ENSP00000395538:A2728V|.	ENSP00000382452:A2728V|ENSP00000382459:R1241C	A|R	-|-	2|1	0|0	TNRC18|TNRC18	5318865|5318865	0.994000|0.994000	0.37717|0.37717	0.001000|0.001000	0.08648|0.08648	0.428000|0.428000	0.31595|0.31595	2.090000|2.090000	0.41682|0.41682	0.286000|0.286000	0.22352|0.22352	0.484000|0.484000	0.47621|0.47621	GCG|CGC		0.736	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				6	15	0	0	0	1	0	6	15				
SLC10A2	6555	broad.mit.edu	37	13	103710664	103710664	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr13:103710664G>A	ENST00000245312.3	-	2	1042	c.446C>T	c.(445-447)aCc>aTc	p.T149I		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	149					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	bile acid:sodium symporter activity (GO:0008508)			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)				Aciclovir(DB00787)|Cyclosporine(DB00091)|Ursodeoxycholic acid(DB01586)|Valaciclovir(DB00577)	CCACATTTTGGTATAGATAAG	0.483																																						ENST00000245312.3																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(445-447)aCc>aTc		solute carrier family 10 (sodium/bile acid cotransporter), member 2							134.0	114.0	121.0					13																	103710664		2203	4300	6503	SO:0001583	missense	6555				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	g.chr13:103710664G>A	U10417	CCDS9506.1	13q33	2013-07-18	2013-07-18		ENSG00000125255	ENSG00000125255		"""Solute carriers"""	10906	protein-coding gene	gene with protein product		601295		ASBT, ISBT		8661017	Standard	NM_000452		Approved		uc001vpy.4	Q12908	OTTHUMG00000017313	ENST00000245312.3:c.446C>T	13.37:g.103710664G>A	ENSP00000245312:p.Thr149Ile						p.T149I	NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN			2	1042	-	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		149					A1L4F4|Q13839	Missense_Mutation	SNP	ENST00000245312.3	37	c.446C>T	CCDS9506.1	.	.	.	.	.	.	.	.	.	.	G	32	5.111272	0.94339	.	.	ENSG00000125255	ENST00000245312	T	0.11604	2.76	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.28732	0.0712	L	0.58810	1.83	0.58432	D	0.999996	P	0.50819	0.939	P	0.59703	0.862	T	0.00048	-1.2206	10	0.72032	D	0.01	-28.2822	18.4783	0.90800	0.0:0.0:1.0:0.0	.	149	Q12908	NTCP2_HUMAN	I	149	ENSP00000245312:T149I	ENSP00000245312:T149I	T	-	2	0	SLC10A2	102508665	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.742000	0.85008	2.873000	0.98535	0.563000	0.77884	ACC		0.483	SLC10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045716.1			13	75	0	0	0	1	0	13	75				
DPP10	57628	broad.mit.edu	37	2	116572463	116572463	+	Missense_Mutation	SNP	T	T	A			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr2:116572463T>A	ENST00000410059.1	+	20	2275	c.1795T>A	c.(1795-1797)Ttt>Att	p.F599I	DPP10_ENST00000409163.1_Missense_Mutation_p.F549I|DPP10_ENST00000310323.8_Missense_Mutation_p.F592I|DPP10_ENST00000393147.2_Missense_Mutation_p.F603I	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	599						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)	p.F592I(1)|p.F599I(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TGTAGCAAGATTTGATGGCAG	0.423																																						ENST00000410059.1																			2	Substitution - Missense(2)	p.F592I(1)|p.F599I(1)	kidney(2)	breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						c.(1795-1797)Ttt>Att		dipeptidyl-peptidase 10 (non-functional)							137.0	135.0	135.0					2																	116572463		2203	4300	6503	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116572463T>A	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1795T>A	2.37:g.116572463T>A	ENSP00000386565:p.Phe599Ile					DPP10_ENST00000393147.2_Missense_Mutation_p.F603I|DPP10_ENST00000310323.8_Missense_Mutation_p.F592I|DPP10_ENST00000409163.1_Missense_Mutation_p.F549I	p.F599I	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN			20	2275	+			599					A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.1795T>A	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	T	12.95	2.091721	0.36952	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	5.16	5.16	0.70880	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.059528	0.64402	D	0.000002	T	0.18509	0.0444	N	0.01789	-0.72	0.46981	D	0.999277	B;B;B;B	0.25772	0.081;0.134;0.099;0.099	B;B;B;B	0.25140	0.034;0.047;0.058;0.058	T	0.15321	-1.0441	10	0.13853	T	0.58	-15.1092	14.3232	0.66502	0.0:0.0:0.0:1.0	.	592;603;595;599	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	I	599;549;603;592;549	ENSP00000386565:F599I;ENSP00000387038:F549I;ENSP00000376855:F603I;ENSP00000309066:F592I	ENSP00000309066:F592I	F	+	1	0	DPP10	116288933	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.800000	0.38833	2.182000	0.69389	0.533000	0.62120	TTT		0.423	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		33	117	0	0	0	1	0	33	117				
TEX10	54881	broad.mit.edu	37	9	103109336	103109336	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr9:103109336C>T	ENST00000374902.4	-	3	709	c.533G>A	c.(532-534)cGt>cAt	p.R178H	TEX10_ENST00000537512.1_Missense_Mutation_p.R113H|TEX10_ENST00000535814.1_Missense_Mutation_p.R181H	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	178						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TATGCTGCTACGGCCAGTAAT	0.413																																						ENST00000374902.4																			0				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38						c.(532-534)cGt>cAt		testis expressed 10							71.0	75.0	74.0					9																	103109336		2203	4300	6503	SO:0001583	missense	54881					integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding	g.chr9:103109336C>T	AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"""testis expressed gene 10"", ""testis expressed sequence 10"""			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.533G>A	9.37:g.103109336C>T	ENSP00000364037:p.Arg178His					TEX10_ENST00000535814.1_Missense_Mutation_p.R181H|TEX10_ENST00000537512.1_Missense_Mutation_p.R113H	p.R178H	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.157)	3	709	-		Acute lymphoblastic leukemia(62;0.0527)	178					B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Missense_Mutation	SNP	ENST00000374902.4	37	c.533G>A	CCDS6748.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.063144	0.76187	.	.	ENSG00000136891	ENST00000535814;ENST00000374902;ENST00000537512	T;T;T	0.63913	-0.07;-0.07;-0.07	5.32	5.32	0.75619	Armadillo-like helical (1);Armadillo-type fold (1);	0.049533	0.85682	D	0.000000	T	0.74928	0.3781	L	0.49640	1.575	0.80722	D	1	D;D;D	0.89917	0.994;1.0;0.977	P;D;P	0.85130	0.79;0.997;0.73	T	0.70963	-0.4729	10	0.29301	T	0.29	-9.6933	18.9915	0.92794	0.0:1.0:0.0:0.0	.	113;181;178	B7Z9D5;B4DYV2;Q9NXF1	.;.;TEX10_HUMAN	H	181;178;113	ENSP00000444555:R181H;ENSP00000364037:R178H;ENSP00000438120:R113H	ENSP00000364037:R178H	R	-	2	0	TEX10	102149157	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.079000	0.71291	2.484000	0.83849	0.591000	0.81541	CGT		0.413	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053416.1	NM_017746		18	9	0	0	0	1	0	18	9				
LEF1-AS1	641518	broad.mit.edu	37	4	109098824	109098827	+	RNA	DEL	ACAC	ACAC	-	rs367624753		TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr4:109098824_109098827delACAC	ENST00000512637.1	+	0	3350				LEF1-AS1_ENST00000512129.1_RNA|LEF1-AS1_ENST00000508286.1_RNA|LEF1-AS1_ENST00000507799.1_RNA|LEF1-AS1_ENST00000436413.1_RNA	NR_029373.1				LEF1 antisense RNA 1																		acgcACGTGTacacacacacacac	0.529																																						ENST00000507799.1																			0																																																			0							g.chr4:109098824_109098827delACAC			4q25	2012-10-12	2012-08-15		ENSG00000232021	ENSG00000232021		"""Long non-coding RNAs"""	40339	non-coding RNA	RNA, long non-coding			"""LEF1 antisense RNA 1 (non-protein coding)"""				Standard	NR_029373		Approved		uc021xqn.1		OTTHUMG00000161028		4.37:g.109098832_109098835delACAC						LEF1-AS1_ENST00000512129.1_RNA								0	360	+									RNA	DEL	ENST00000512637.1	37																																																																																						0.529	LEF1-AS1-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000363474.1	NR_029373		2	4						2	4	---	---	---	---
ZFR	51663	broad.mit.edu	37	5	32407014	32407015	+	In_Frame_Ins	INS	-	-	GCA			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr5:32407014_32407015insGCA	ENST00000265069.8	-	6	998_999	c.896_897insTGC	c.(895-897)gca>gcTGCa	p.299_299A>AA		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	299	Ala-rich.				multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		AGGCAgctgttgcagcagcagc	0.48																																						ENST00000265069.8																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32						c.(895-897)gac>gTGCac		zinc finger RNA binding protein																																				SO:0001652	inframe_insertion	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32407014_32407015insGCA	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.894_896dupTGC	5.37:g.32407021_32407023dupGCA	ENSP00000265069:p.Ala299dup						p.299_299D>VH	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	6	998_999	-			299			Ala-rich.		B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	In_Frame_Ins	INS	ENST00000265069.8	37	c.896_897insTGC	CCDS34139.1																																																																																				0.480	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			8	53						8	53	---	---	---	---
PTENP1	11191	broad.mit.edu	37	9	33675365	33675365	+	RNA	DEL	A	A	-			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr9:33675365delA	ENST00000532280.1	-	0	2132					NR_023917.1				phosphatase and tensin homolog pseudogene 1 (functional)																		TATTGCCATTAAAAAAAAAGG	0.323																																						ENST00000532280.1																			0																																																			0							g.chr9:33675365delA	AF023139, BC038293, BY797336		9p13.3	2014-09-11	2014-01-16		ENSG00000237984	ENSG00000237984		"""-"""	9589	pseudogene	pseudogene		613531	"""phosphatase and tensin homolog pseudogene 1"""			9393738, 9620558	Standard	NR_023917		Approved	PTEN2, psiPTEN, PTH2, PTEN-rs, PTENpg1	uc003zth.4		OTTHUMG00000000410		9.37:g.33675365delA								NR_023917.1						0	2132	-									RNA	DEL	ENST00000532280.1	37																																																																																						0.323	PTENP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395145.1	NR_023917		3	3						3	3	---	---	---	---
LINC01410	103352539	broad.mit.edu	37	9	66458156	66458157	+	lincRNA	INS	-	-	G			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr9:66458156_66458157insG	ENST00000424345.1	+	0	67				RNA5SP283_ENST00000365604.1_RNA																							cctacggtaccgctattaccag	0.624																																						ENST00000424345.1																			0																																																			0							g.chr9:66458156_66458157insG																													9.37:g.66458157_66458157dupG						RNA5SP283_ENST00000365604.1_RNA								0	67	+									RNA	INS	ENST00000424345.1	37																																																																																						0.624	RP11-262H14.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000128851.1			7	16						7	16	---	---	---	---
RP11-945A11.1	0	broad.mit.edu	37	11	23762400	23762400	+	lincRNA	DEL	T	T	-			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr11:23762400delT	ENST00000534068.1	+	0	358																											agtctggatattaattctttg	0.323																																						ENST00000534068.1																			0																																																			0							g.chr11:23762400delT																													11.37:g.23762400delT														0	358	+									RNA	DEL	ENST00000534068.1	37																																																																																						0.323	RP11-945A11.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000387785.1			2	4						2	4	---	---	---	---
ARCN1	372	broad.mit.edu	37	11	118454048	118454050	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr11:118454048_118454050delAGA	ENST00000264028.4	+	3	517_519	c.422_424delAGA	c.(421-426)gagaag>gag	p.K142del	ARCN1_ENST00000359415.4_In_Frame_Del_p.K183del|ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000392859.3_In_Frame_Del_p.K54del	NM_001655.4	NP_001646.2	P48444	COPD_HUMAN	archain 1	142					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer maturation (GO:0021691)|COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pigmentation (GO:0043473)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	clathrin adaptor complex (GO:0030131)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TCTCATGAGGAGAAGGTGTTCAG	0.404																																						ENST00000359415.4																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13						c.(544-549)gag>g		archain 1																																				SO:0001651	inframe_deletion	372				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol		g.chr11:118454048_118454050delAGA	X81197	CCDS8400.1, CCDS44749.1	11q23.3	2010-04-21	2003-01-29		ENSG00000095139	ENSG00000095139			649	protein-coding gene	gene with protein product		600820	"""coatomer protein complex, subunit delta"""	COPD		7782067, 8854871	Standard	NM_001655		Approved		uc001ptq.3	P48444	OTTHUMG00000166340	ENST00000264028.4:c.422_424delAGA	11.37:g.118454048_118454050delAGA	ENSP00000264028:p.Lys142del					ARCN1_ENST00000392859.3_In_Frame_Del_p.EK53del|ARCN1_ENST00000264028.4_In_Frame_Del_p.EK141del|ARCN1_ENST00000534182.2_Intron	p.EK182del			P48444	COPD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	4	710_712	+	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)	141					B4E1X2|E9PEU4|Q52M80	In_Frame_Del	DEL	ENST00000264028.4	37	c.545_547delAGA	CCDS8400.1																																																																																				0.404	ARCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389278.1			17	25						17	25	---	---	---	---
LOC283440	283440	broad.mit.edu	37	12	2877580	2877580	+	lincRNA	DEL	C	C	-	rs138077861|rs539247560	byFrequency	TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr12:2877580delC	ENST00000536497.1	-	0	147				RP11-885B4.1_ENST00000540093.1_lincRNA	NR_033958.1																						gtgaacccctcgaagccaggT	0.557																																						ENST00000536497.1																			0																																																			0							g.chr12:2877580delC																													12.37:g.2877580delC						RP11-885B4.1_ENST00000540093.1_lincRNA		NR_033958.1						0	147	-									RNA	DEL	ENST00000536497.1	37																																																																																						0.557	RP11-885B4.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000398351.1			3	6						3	6	---	---	---	---
RP11-897M7.1	0	broad.mit.edu	37	12	131962167	131962168	+	lincRNA	INS	-	-	ATA	rs374676000|rs148457819	byFrequency	TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr12:131962167_131962168insATA	ENST00000535133.1	-	0	195																											tggtaatggtggtgatgatggt	0.426														2186	0.436502	0.3631	0.4726	5008	,	,		224579	0.4405		0.4841	False		,,,				2504	0.4571					ENST00000535133.1																			0																																																			0							g.chr12:131962167_131962168insATA																													12.37:g.131962167_131962168insATA														0	195	-									RNA	INS	ENST00000535133.1	37																																																																																						0.426	RP11-897M7.1-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000399228.1			4	6						4	6	---	---	---	---
FAM20A	54757	broad.mit.edu	37	17	66538939	66538955	+	Splice_Site	DEL	AAGTCCAGAATCCTGCA	AAGTCCAGAATCCTGCA	-			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr17:66538939_66538955delAAGTCCAGAATCCTGCA	ENST00000592554.1	-	6	1535_1546	c.813_824delTGCAGGATTCTGGACTT	c.(811-825)agtgcaggattctgg>agg	p.SAGFW271fs	FAM20A_ENST00000226094.5_5'UTR|AC079210.1_ENST00000600820.1_5'Flank|PRKAR1A_ENST00000588188.2_Intron	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	271					calcium ion homeostasis (GO:0055074)|enamel mineralization (GO:0070166)|tooth eruption (GO:0044691)	cell (GO:0005623)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					CACCCGTCGGAAGTCCAGAATCCTGCAAGAGAGGAAG	0.521																																						ENST00000592554.1																			0				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9						c.e6-1		family with sequence similarity 20, member A																																				SO:0001630	splice_region_variant	54757					extracellular region		g.chr17:66538939_66538955delAAGTCCAGAATCCTGCA	AK056789	CCDS11679.1	17q24.2	2014-02-07			ENSG00000108950	ENSG00000108950			23015	protein-coding gene	gene with protein product		611062					Standard	NM_017565		Approved	DKFZp434F2322	uc002jho.3	Q96MK3	OTTHUMG00000180152	ENST00000592554.1:c.813-1TGCAGGATTCTGGACTT>-	17.37:g.66538939_66538955delAAGTCCAGAATCCTGCA						PRKAR1A_ENST00000588188.2_Intron|FAM20A_ENST00000226094.5_5'UTR	p.R273_splice	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN			6	1535_1546	-	Breast(10;1.64e-13)		273					B2RN47|B2RN49|Q9UF95	Splice_Site	DEL	ENST00000592554.1	37	c.812_splice	CCDS11679.1																																																																																				0.521	FAM20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450029.2	NM_017565	Frame_Shift_Del	30	45						30	45	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11072388	11072389	+	RNA	INS	-	-	T	rs139874484|rs140345115		TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr21:11072388_11072389insT	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		tggttcacgccgtgattccagc	0.505																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11072388_11072389insT	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11072388_11072389insT												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.505	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		3	6						3	6	---	---	---	---
ERVH48-1	90625	broad.mit.edu	37	21	44345393	44345393	+	lincRNA	DEL	C	C	-	rs34233127	byFrequency	TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr21:44345393delC	ENST00000447535.1	-	0	301							M5A8F1	SUPYN_HUMAN	endogenous retrovirus group 48, member 1						syncytium formation (GO:0006949)	extracellular space (GO:0005615)											gattttggggctggagaaacc	0.567													C|C|-|deletion	407	0.08127	0.0703	0.062	5008	,	,		17562	0.002		0.2018	False		,,,				2504	0.0675					ENST00000447535.1																			0																																																			0							g.chr21:44345393delC	BC005107, CR591419		21q22.3	2011-06-16	2011-05-05	2011-05-05	ENSG00000233056	ENSG00000233056			17216	other	endogenous retrovirus			"""chromosome 21 open reading frame 105"", ""NDUFV3 antisense RNA 1 (non-protein coding)"""	C21orf105, NDUFV3-AS1		21542922	Standard			Approved			M5A8F1	OTTHUMG00000086835		21.37:g.44345393delC														0	301	-									RNA	DEL	ENST00000447535.1	37																																																																																						0.567	ERVH48-1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000195540.1			6	2						6	2	---	---	---	---
TXN2	25828	broad.mit.edu	37	22	36872876	36872876	+	Frame_Shift_Del	DEL	C	C	-			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr22:36872876delC	ENST00000216185.2	-	3	757	c.291delG	c.(289-291)gggfs	p.G97fs	TXN2_ENST00000487725.1_5'UTR|TXN2_ENST00000416967.1_5'UTR|TXN2_ENST00000403313.1_Frame_Shift_Del_p.G97fs			Q99757	THIOM_HUMAN	thioredoxin 2	97	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|cellular response to nutrient levels (GO:0031669)|glycerol ether metabolic process (GO:0006662)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|response to oxidative stress (GO:0006979)	dendrite (GO:0030425)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)	protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|lung(1)|prostate(1)	3						CTAACCTCGGCCCCAGGATCT	0.547																																						ENST00000216185.2																			0				breast(1)|lung(1)|prostate(1)	3						c.(289-291)ggfs		thioredoxin 2							182.0	145.0	158.0					22																	36872876		2203	4300	6503	SO:0001589	frameshift_variant	25828				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	mitochondrion|nucleolus	electron carrier activity	g.chr22:36872876delC	U78678	CCDS13928.1	22q13.1	2008-06-11			ENSG00000100348	ENSG00000100348			17772	protein-coding gene	gene with protein product		609063				9006939, 17220299	Standard	NM_012473		Approved	MT-TRX	uc003apk.1	Q99757	OTTHUMG00000150596	ENST00000216185.2:c.291delG	22.37:g.36872876delC	ENSP00000216185:p.Gly97fs					TXN2_ENST00000416967.1_5'UTR|TXN2_ENST00000403313.1_Frame_Shift_Del_p.G97fs|TXN2_ENST00000487725.1_5'UTR	p.G97fs			Q99757	THIOM_HUMAN			3	757	-			97			Thioredoxin.		Q5JZA0|Q6FH60|Q9UH29	Frame_Shift_Del	DEL	ENST00000216185.2	37	c.291delG	CCDS13928.1																																																																																				0.547	TXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319016.1	NM_012473		57	147						57	147	---	---	---	---
