#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
ATAD3B	83858	broad.mit.edu	37	1	1412700	1412700	+	Silent	SNP	G	G	A	rs142559400	byFrequency	TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr1:1412700G>A	ENST00000308647.7	+	2	368	c.252G>A	c.(250-252)acG>acA	p.T84T	ATAD3B_ENST00000378741.3_De_novo_Start_InFrame	NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	84						mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		AGGAGCAGACGCTGCAGTTGG	0.632																																						uc001afv.3																			0				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10						c.(250-252)acG>acA		Homo sapiens ATPase family, AAA domain containing 3B (ATAD3B), nuclear gene encoding mitochondrial protein, mRNA.		G		1,4405		0,1,2202	47.0	45.0	46.0		252	-5.8	1.0	1	dbSNP_134	46	4,8586		0,4,4291	no	coding-synonymous	ATAD3B	NM_031921.4		0,5,6493	AA,AG,GG		0.0466,0.0227,0.0385		84/649	1412700	5,12991	2203	4295	6498	SO:0001819	synonymous_variant	83858						ATP binding|nucleoside-triphosphatase activity	g.chr1:1412700G>A	AL834179	CCDS30.1	1p36.33	2010-04-21		2007-02-08	ENSG00000160072	ENSG00000160072		"""ATPases / AAA-type"""	24007	protein-coding gene	gene with protein product		612317				10574462	Standard	XM_005244806		Approved	TOB3, KIAA1273	uc001afv.3	Q5T9A4	OTTHUMG00000000577	ENST00000308647.7:c.252G>A	1.37:g.1412700G>A						ATAD3B_uc001afw.2_5'Flank|ATAD3B_uc001afx.3_5'Flank	p.T84T	NM_031921	NP_114127	Q5T9A4	ATD3B_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	1	353	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	84					A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Silent	SNP	ENST00000308647.7	37	c.252G>A	CCDS30.1																																																																																				0.632	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001369.2	NM_031921	
MMEL1	79258	broad.mit.edu	37	1	2524281	2524281	+	Silent	SNP	G	G	A	rs537491579	byFrequency	TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr1:2524281G>A	ENST00000378412.3	-	20	2153	c.1992C>T	c.(1990-1992)gaC>gaT	p.D664D	MMEL1_ENST00000288709.6_Silent_p.D655D|MMEL1_ENST00000502556.1_Silent_p.D507D			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	664						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CGTTCTGTTCGTCTGCCAGGT	0.637													g|||	2	0.000399361	0.0015	0.0	5008	,	,		12745	0.0		0.0	False		,,,				2504	0.0					uc001ajy.2																			0				cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27						c.(1990-1992)gaC>gaT		Homo sapiens membrane metallo-endopeptidase-like 1 (MMEL1), mRNA.							119.0	90.0	100.0					1																	2524281		2203	4300	6503	SO:0001819	synonymous_variant	79258				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	g.chr1:2524281G>A	AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"""membrane metallo-endopeptidase-like 2"""	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.1992C>T	1.37:g.2524281G>A						MMEL1_uc009vlg.1_Non-coding_Transcript	p.D664D	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)	19	2206	-	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	664					B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Silent	SNP	ENST00000378412.3	37	c.1992C>T	CCDS30569.2																																																																																				0.637	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467	
PLEKHM2	23207	broad.mit.edu	37	1	16044415	16044415	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr1:16044415A>G	ENST00000375799.3	+	4	532	c.305A>G	c.(304-306)aAc>aGc	p.N102S	PLEKHM2_ENST00000375793.2_Missense_Mutation_p.N102S	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	102	Interaction with KIF5B.|RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				Golgi organization (GO:0007030)	cytoplasm (GO:0005737)	kinesin binding (GO:0019894)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		CTGGCCCTCAACGAGAACTCC	0.572																																						uc010obo.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12						c.(304-306)aAc>aGc		Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 2 (PLEKHM2), mRNA.							61.0	64.0	63.0					1																	16044415		1959	4154	6113	SO:0001583	missense	23207				Golgi organization	cytoplasm	kinesin binding	g.chr1:16044415A>G	AB020649	CCDS44063.1	1p36.13	2013-01-10			ENSG00000116786	ENSG00000116786		"""Pleckstrin homology (PH) domain containing"""	29131	protein-coding gene	gene with protein product		609613				10048485	Standard	NM_015164		Approved	KIAA0842	uc010obo.2	Q8IWE5	OTTHUMG00000003062	ENST00000375799.3:c.305A>G	1.37:g.16044415A>G	ENSP00000364956:p.Asn102Ser						p.N102S	NM_015164	NP_055979	Q8IWE5	PKHM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	3	532	+		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	102			Interaction with KIF5B.|RUN.		O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Missense_Mutation	SNP	ENST00000375799.3	37	c.305A>G	CCDS44063.1	.	.	.	.	.	.	.	.	.	.	A	17.16	3.317812	0.60524	.	.	ENSG00000116786	ENST00000375799;ENST00000375793	T;T	0.35421	1.31;1.31	5.17	5.17	0.71159	RUN (3);	0.050604	0.85682	D	0.000000	T	0.39332	0.1074	M	0.67700	2.07	0.58432	D	0.999993	B	0.31879	0.344	B	0.31686	0.134	T	0.30060	-0.9991	10	0.42905	T	0.14	-33.6815	15.3283	0.74186	1.0:0.0:0.0:0.0	.	102	Q8IWE5	PKHM2_HUMAN	S	102	ENSP00000364956:N102S;ENSP00000364950:N102S	ENSP00000364950:N102S	N	+	2	0	PLEKHM2	15917002	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	4.189000	0.58358	2.085000	0.62840	0.533000	0.62120	AAC		0.572	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008463.1	NM_015164	
ESPNP	284729	broad.mit.edu	37	1	17034522	17034522	+	RNA	SNP	G	G	C			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr1:17034522G>C	ENST00000492551.1	-	0	245					NR_026567.1				espin pseudogene																		GGCCCTCCTGGCACGCCAGGT	0.706																																						uc001azn.1																			0											c.(130-132)tgC>tgG		Homo sapiens espin pseudogene (ESPNP), non-coding RNA.																																						284729							g.chr1:17034522G>C	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17034522G>C						ESPNP_uc010ocj.1_5'UTR	p.C44W							1	246	-									Missense_Mutation	SNP	ENST00000492551.1	37	c.132C>G																																																																																					0.706	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1		
ZSWIM5	57643	broad.mit.edu	37	1	45508897	45508897	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr1:45508897A>G	ENST00000359600.5	-	6	1808	c.1603T>C	c.(1603-1605)Tgg>Cgg	p.W535R		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	535						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TTACCAAGCCACAGTGGCTGG	0.488																																						uc001cnd.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(1603-1605)Tgg>Cgg		Homo sapiens zinc finger, SWIM-type containing 5 (ZSWIM5), mRNA.							98.0	100.0	100.0					1																	45508897		1902	4128	6030	SO:0001583	missense	57643						zinc ion binding	g.chr1:45508897A>G	AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"""Zinc fingers, SWIM-type"""	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.1603T>C	1.37:g.45508897A>G	ENSP00000352614:p.Trp535Arg						p.W535R	NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN			5	1831	-	Acute lymphoblastic leukemia(166;0.155)		535					Q5SXQ9	Missense_Mutation	SNP	ENST00000359600.5	37	c.1603T>C	CCDS41319.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.363092	0.82353	.	.	ENSG00000162415	ENST00000359600	T	0.60040	0.22	5.24	4.09	0.47781	.	0.107992	0.64402	D	0.000002	T	0.74726	0.3754	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.77879	-0.2423	10	0.87932	D	0	-6.2558	12.7877	0.57516	0.8628:0.1372:0.0:0.0	.	535	Q9P217	ZSWM5_HUMAN	R	535	ENSP00000352614:W535R	ENSP00000352614:W535R	W	-	1	0	ZSWIM5	45281484	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.283000	0.95860	1.051000	0.40369	0.533000	0.62120	TGG		0.488	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	XM_046581	
VPS45	11311	broad.mit.edu	37	1	150049176	150049176	+	Missense_Mutation	SNP	G	G	A	rs370166172		TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr1:150049176G>A	ENST00000369130.3	+	6	989	c.443G>A	c.(442-444)cGa>cAa	p.R148Q	VPS45_ENST00000369128.5_Intron|VPS45_ENST00000535106.1_Intron	NM_001279354.1|NM_007259.3	NP_001266283.1|NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	148					blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|vesicle docking involved in exocytosis (GO:0006904)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|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)			AAAAAGGGTCGAAATTGGGAT	0.353																																						uc001etp.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(442-444)cGa>cAa		Homo sapiens vacuolar protein sorting 45 homolog (S. cerevisiae) (VPS45), mRNA.		G	GLN/ARG	0,4406		0,0,2203	68.0	68.0	68.0		443	6.1	1.0	1		68	1,8599	1.2+/-3.3	0,1,4299	no	missense	VPS45	NM_007259.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	148/571	150049176	1,13005	2203	4300	6503	SO:0001583	missense	11311				blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	endosome membrane|Golgi membrane|integral to membrane of membrane fraction		g.chr1:150049176G>A	U35246	CCDS944.1, CCDS60244.1, CCDS72904.1	1q21.2	2008-02-05	2006-12-19	2006-12-19	ENSG00000136631	ENSG00000136631			14579	protein-coding gene	gene with protein product		610035	"""vacuolar protein sorting 45A (yeast homolog)"", ""vacuolar protein sorting 45A (yeast)"""	VPS45B, VPS45A		8996080	Standard	NM_007259		Approved	h-vps45, H1	uc001etp.3	Q9NRW7	OTTHUMG00000012511	ENST00000369130.3:c.443G>A	1.37:g.150049176G>A	ENSP00000358126:p.Arg148Gln					VPS45_uc010pbp.1_Intron|VPS45_uc010pbq.2_Missense_Mutation_p.R112Q|VPS45_uc010pbs.2_Intron|VPS45_uc001etq.3_5'Flank|VPS45_uc009wlm.1_Intron|VPS45_uc010pbr.1_Missense_Mutation_p.R112Q	p.R148Q	NM_007259	NP_009190	Q9NRW7	VPS45_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		5	1016	+	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		148					D3DUZ9|F5H8K1|Q15715|Q53FR8|Q5T4P6|Q9Y4Z6	Missense_Mutation	SNP	ENST00000369130.3	37	c.443G>A	CCDS944.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.596164	0.46318	0.0	1.16E-4	ENSG00000136631	ENST00000369130;ENST00000543996	T	0.28666	1.6	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.13970	0.0338	L	0.29908	0.895	0.80722	D	1	B;B	0.30021	0.265;0.147	B;B	0.22753	0.031;0.041	T	0.03384	-1.1042	10	0.27785	T	0.31	.	19.6279	0.95687	0.0:0.0:1.0:0.0	.	112;148	B7Z7G7;Q9NRW7	.;VPS45_HUMAN	Q	148;23	ENSP00000358126:R148Q	ENSP00000358126:R148Q	R	+	2	0	VPS45	148315800	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.533000	0.98059	2.880000	0.98712	0.650000	0.86243	CGA		0.353	VPS45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034964.1	NM_007259	
KPRP	448834	broad.mit.edu	37	1	152733551	152733551	+	Missense_Mutation	SNP	G	G	A	rs201034376		TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr1:152733551G>A	ENST00000606109.1	+	1	1515	c.1487G>A	c.(1486-1488)cGc>cAc	p.R496H	KPRP_ENST00000368773.1_Missense_Mutation_p.R496H			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	496	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.R496H(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGACTTGGCGCAGCCCCAGC	0.647																																						uc001fal.1																			1	Substitution - Missense(1)	p.R496H(2)	ovary(1)	NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1486-1488)cGc>cAc		Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.							45.0	51.0	49.0					1																	152733551		2203	4300	6503	SO:0001583	missense	448834					cytoplasm		g.chr1:152733551G>A	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.1487G>A	1.37:g.152733551G>A	ENSP00000475216:p.Arg496His					KPRP_uc021ozf.1_Missense_Mutation_p.R496H	p.R496H	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		1	1545	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		496			Pro-rich.			Missense_Mutation	SNP	ENST00000606109.1	37	c.1487G>A	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.492517	0.26774	.	.	ENSG00000203786	ENST00000368773	T	0.15017	2.46	4.46	2.55	0.30701	.	0.806480	0.10804	N	0.632297	T	0.03695	0.0105	L	0.29908	0.895	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.41998	-0.9477	10	0.38643	T	0.18	-3.4942	4.4113	0.11434	0.192:0.0:0.6315:0.1764	.	496	Q5T749	KPRP_HUMAN	H	496	ENSP00000357762:R496H	ENSP00000357762:R496H	R	+	2	0	KPRP	151000175	0.004000	0.15560	0.000000	0.03702	0.005000	0.04900	1.343000	0.33930	0.606000	0.29965	-0.379000	0.06801	CGC		0.647	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231	
KIF26B	55083	broad.mit.edu	37	1	245862232	245862232	+	Missense_Mutation	SNP	G	G	A	rs199933797		TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr1:245862232G>A	ENST00000407071.2	+	14	6511	c.6071G>A	c.(6070-6072)cGc>cAc	p.R2024H	KIF26B_ENST00000366518.4_Missense_Mutation_p.R1643H	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	2024					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.R2024H(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CTGGAACACCGCCAGCAGAGG	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		19181	0.0		0.001	False		,,,				2504	0.0					uc001ibf.1																			1	Substitution - Missense(1)	p.R2024H(2)|p.H2023Q(1)	ovary(1)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(6070-6072)cGc>cAc		Homo sapiens kinesin family member 26B (KIF26B), mRNA.							73.0	78.0	76.0					1																	245862232		2085	4213	6298	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245862232G>A	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.6071G>A	1.37:g.245862232G>A	ENSP00000385545:p.Arg2024His						p.R2024H	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		13	6511	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		2024					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.6071G>A	CCDS44342.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	21.7	4.184039	0.78677	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	D;D	0.87103	-2.21;-2.2	5.82	5.82	0.92795	.	.	.	.	.	D	0.93462	0.7914	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.93435	0.6789	9	0.87932	D	0	.	20.099	0.97865	0.0:0.0:1.0:0.0	.	2024	Q2KJY2	KI26B_HUMAN	H	2024;1643;1640	ENSP00000385545:R2024H;ENSP00000355475:R1643H	ENSP00000355475:R1643H	R	+	2	0	KIF26B	243928855	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	8.033000	0.88852	2.752000	0.94435	0.655000	0.94253	CGC		0.572	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354	
OR2W3	343171	broad.mit.edu	37	1	248059267	248059267	+	Missense_Mutation	SNP	T	T	G			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr1:248059267T>G	ENST00000360358.3	+	1	379	c.379T>G	c.(379-381)Tgc>Ggc	p.C127G	OR2W3_ENST00000537741.1_Missense_Mutation_p.C127G	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	127						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGTGGCTATCTGCAAGCCCCT	0.607																																						uc010pzb.2																			0				breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49						c.(379-381)Tgc>Ggc		Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA.							107.0	82.0	91.0					1																	248059267		2203	4300	6503	SO:0001583	missense	343171				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248059267T>G	N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"""GPCR / Class A : Olfactory receptors"""	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.379T>G	1.37:g.248059267T>G	ENSP00000353516:p.Cys127Gly					OR2W3_uc001idp.1_Missense_Mutation_p.C127G	p.C127G	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		0	379	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		127					Q6IF06|Q8NG86	Missense_Mutation	SNP	ENST00000360358.3	37	c.379T>G	CCDS31099.1	.	.	.	.	.	.	.	.	.	.	T	10.05	1.245519	0.22796	.	.	ENSG00000238243	ENST00000537741;ENST00000360358	T;T	0.07114	3.22;3.22	5.28	4.14	0.48551	GPCR, rhodopsin-like superfamily (1);	0.087960	0.50627	N	0.000109	T	0.25680	0.0625	H	0.97587	4.035	0.50632	D	0.999884	B	0.22080	0.064	B	0.27170	0.077	T	0.15492	-1.0435	10	0.72032	D	0.01	.	12.3272	0.55018	0.0:0.0:0.141:0.8589	.	127	Q7Z3T1	OR2W3_HUMAN	G	127	ENSP00000445853:C127G;ENSP00000353516:C127G	ENSP00000353516:C127G	C	+	1	0	OR2W3	246125890	1.000000	0.71417	0.972000	0.41901	0.031000	0.12232	3.504000	0.53347	0.997000	0.38969	0.491000	0.48974	TGC		0.607	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957	
ARHGAP21	57584	broad.mit.edu	37	10	24893240	24893240	+	Splice_Site	SNP	C	C	T			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr10:24893240C>T	ENST00000396432.2	-	12	3208		c.e12+1		ARHGAP21_ENST00000320481.6_Splice_Site|ARHGAP21_ENST00000493154.1_Splice_Site	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21						establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CTAATACCAACCTTGATTCCC	0.279																																						uc001isb.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.e12+1		Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.							57.0	56.0	56.0					10																	24893240		2203	4296	6499	SO:0001630	splice_region_variant	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24893240C>T	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.2721+1G>A	10.37:g.24893240C>T						ARHGAP21_uc010qdb.1_Splice_Site|ARHGAP21_uc009xkl.1_Splice_Site_p.K907_splice|ARHGAP21_uc010qdc.1_Splice_Site_p.K742_splice	p.K907_splice	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN			12	3208	-			906					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Splice_Site	SNP	ENST00000396432.2	37	c.2721_splice	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	C	17.49	3.401530	0.62288	.	.	ENSG00000107863	ENST00000396432;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	.	.	.	4.6	4.6	0.57074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5682	0.87927	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARHGAP21	24933246	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	5.003000	0.63959	2.545000	0.85829	0.650000	0.86243	.		0.279	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824	Intron
ARHGAP21	57584	broad.mit.edu	37	10	24893252	24893252	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr10:24893252T>C	ENST00000396432.2	-	12	3196	c.2710A>G	c.(2710-2712)Aag>Gag	p.K904E	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.K691E|ARHGAP21_ENST00000493154.1_5'UTR	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	903					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TTGATTCCCTTCAGACTAGAT	0.279																																						uc001isb.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(2710-2712)Aag>Gag		Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.							57.0	56.0	56.0					10																	24893252		2203	4297	6500	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24893252T>C	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.2710A>G	10.37:g.24893252T>C	ENSP00000379709:p.Lys904Glu					ARHGAP21_uc010qdb.1_Non-coding_Transcript|ARHGAP21_uc009xkl.1_Missense_Mutation_p.K904E|ARHGAP21_uc010qdc.1_Missense_Mutation_p.K739E	p.K904E	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN			11	3197	-			903					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.2710A>G	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	T	19.65	3.867594	0.72065	.	.	ENSG00000107863	ENST00000396432;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T;T	0.50001	2.72;2.84;0.76;0.76	4.6	4.6	0.57074	.	0.089152	0.85682	D	0.000000	T	0.62792	0.2457	L	0.53249	1.67	0.48696	D	0.99969	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.917	T	0.63125	-0.6707	10	0.45353	T	0.12	.	14.1043	0.65078	0.0:0.0:0.0:1.0	.	894;903	F8W9U9;Q5T5U3	.;RHG21_HUMAN	E	904;691;894;904;739	ENSP00000379709:K904E;ENSP00000365604:K691E;ENSP00000365592:K894E;ENSP00000405018:K904E	ENSP00000365604:K691E	K	-	1	0	ARHGAP21	24933258	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.140000	0.64807	2.058000	0.61347	0.528000	0.53228	AAG		0.279	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824	
OR52N2	390077	broad.mit.edu	37	11	5842404	5842404	+	Missense_Mutation	SNP	C	C	G	rs369539095		TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr11:5842404C>G	ENST00000317037.2	+	1	861	c.839C>G	c.(838-840)gCc>gGc	p.A280G	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	280						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A280G(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCATCGTGGCCAACCTTTAT	0.398																																						uc010qzp.2																			1	Substitution - Missense(1)	p.A280G(2)|p.A280A(1)	breast(1)	autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32						c.(838-840)gCc>gGc		Homo sapiens olfactory receptor, family 52, subfamily N, member 2 (OR52N2), mRNA.							170.0	144.0	153.0					11																	5842404		2201	4296	6497	SO:0001583	missense	390077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5842404C>G	AB065816	CCDS31399.1	11p15.4	2012-08-09			ENSG00000180988	ENSG00000180988		"""GPCR / Class A : Olfactory receptors"""	15228	protein-coding gene	gene with protein product							Standard	NM_001005174		Approved		uc010qzp.2	Q8NGI0	OTTHUMG00000168801	ENST00000317037.2:c.839C>G	11.37:g.5842404C>G	ENSP00000322801:p.Ala280Gly					TRIM5_uc001mbq.1_Intron	p.A280G	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	0	839	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	280					Q6IFF9	Missense_Mutation	SNP	ENST00000317037.2	37	c.839C>G	CCDS31399.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.785237	0.31593	.	.	ENSG00000180988	ENST00000317037	T	0.00207	8.55	6.09	6.09	0.99107	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000057	T	0.00637	0.0021	M	0.76727	2.345	0.22701	N	0.998834	D	0.89917	1.0	D	0.97110	1.0	T	0.57046	-0.7878	10	0.72032	D	0.01	.	19.2573	0.93951	0.0:1.0:0.0:0.0	.	280	Q8NGI0	O52N2_HUMAN	G	280	ENSP00000322801:A280G	ENSP00000322801:A280G	A	+	2	0	OR52N2	5798980	0.000000	0.05858	0.307000	0.25127	0.026000	0.11368	0.138000	0.16016	2.897000	0.99335	0.643000	0.83706	GCC		0.398	OR52N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401143.1	NM_001005174	
TPH1	7166	broad.mit.edu	37	11	18051095	18051095	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr11:18051095C>T	ENST00000250018.2	-	4	996	c.434G>A	c.(433-435)cGa>cAa	p.R145Q	TPH1_ENST00000341556.2_Missense_Mutation_p.R145Q	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	145					aromatic amino acid family metabolic process (GO:0009072)|bone remodeling (GO:0046849)|cellular nitrogen compound metabolic process (GO:0034641)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|mammary gland alveolus development (GO:0060749)|negative regulation of ossification (GO:0030279)|response to immobilization stress (GO:0035902)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	AAAATACTTTCGACGTTTACG	0.264																																						uc001mnp.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25						c.(433-435)cGa>cAa		Homo sapiens tryptophan hydroxylase 1 (TPH1), mRNA.	L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)						61.0	65.0	63.0					11																	18051095		2198	4289	6487	SO:0001583	missense	7166				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr11:18051095C>T	X52836	CCDS7829.1	11p15.3-p14	2012-10-02	2008-07-31	2003-04-04	ENSG00000129167	ENSG00000129167	1.14.16.4		12008	protein-coding gene	gene with protein product	"""tryptophan 5-monooxygenase"""	191060	"""tryptophan hydroxylase (tryptophan 5-monooxygenase)"""	TPRH, TPH		1463016	Standard	NM_004179		Approved		uc001mnp.2	P17752	OTTHUMG00000166421	ENST00000250018.2:c.434G>A	11.37:g.18051095C>T	ENSP00000250018:p.Arg145Gln					TPH1_uc009yhe.2_Non-coding_Transcript	p.R145Q	NM_004179	NP_004170	P17752	TPH1_HUMAN			3	460	-			145					D3DQX6|O95188|O95189|Q16736|Q3KPG8	Missense_Mutation	SNP	ENST00000250018.2	37	c.434G>A	CCDS7829.1	.	.	.	.	.	.	.	.	.	.	C	36	5.702294	0.96812	.	.	ENSG00000129167	ENST00000250018;ENST00000341556;ENST00000528338	D;D;D	0.99771	-6.71;-6.71;-6.71	5.93	5.93	0.95920	Aromatic amino acid hydroxylase, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.99887	0.9946	H	0.97659	4.05	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96669	0.9495	10	0.87932	D	0	-9.0434	20.3528	0.98816	0.0:1.0:0.0:0.0	.	145	P17752	TPH1_HUMAN	Q	145;145;155	ENSP00000250018:R145Q;ENSP00000343550:R145Q;ENSP00000436081:R155Q	ENSP00000250018:R145Q	R	-	2	0	TPH1	18007671	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	7.567000	0.82357	2.815000	0.96918	0.650000	0.86243	CGA		0.264	TPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389696.1	NM_004179	
MYRF	745	broad.mit.edu	37	11	61541579	61541579	+	Missense_Mutation	SNP	C	C	G	rs193921094		TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr11:61541579C>G	ENST00000278836.5	+	8	1352	c.1256C>G	c.(1255-1257)aCg>aGg	p.T419R	TMEM258_ENST00000535042.1_5'UTR|MYRF_ENST00000327797.1_Missense_Mutation_p.T46R|MYRF_ENST00000265460.5_Missense_Mutation_p.T410R	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	419					central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TACGTCAAGACGCCCGAGGGC	0.587																																						uc001nsc.1																			0				NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(1)	29						c.(1255-1257)aCg>aGg		Homo sapiens chromosome 11 open reading frame 9 (C11orf9), transcript variant 2, mRNA.							63.0	52.0	56.0					11																	61541579		2202	4299	6501	SO:0001583	missense	745				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:61541579C>G		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.1256C>G	11.37:g.61541579C>G	ENSP00000278836:p.Thr419Arg					C11orf9_uc001nse.1_Missense_Mutation_p.T410R	p.T419R	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN			7	1352	+			419					O43582|Q9P1Q6	Missense_Mutation	SNP	ENST00000278836.5	37	c.1256C>G	CCDS44622.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312652	0.81358	.	.	ENSG00000124920	ENST00000278836;ENST00000265460;ENST00000327797	T;T;T	0.50001	1.26;1.26;0.76	4.52	4.52	0.55395	NDT80 DNA-binding domain (2);p53-like transcription factor, DNA-binding (1);	0.056471	0.64402	D	0.000001	T	0.73401	0.3582	M	0.87097	2.86	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.988	T	0.79538	-0.1762	10	0.87932	D	0	-17.9136	17.7969	0.88575	0.0:1.0:0.0:0.0	.	410;419	Q9Y2G1-2;Q9Y2G1	.;MRF_HUMAN	R	419;410;46	ENSP00000278836:T419R;ENSP00000265460:T410R;ENSP00000333261:T46R	ENSP00000265460:T410R	T	+	2	0	C11orf9	61298155	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	5.566000	0.67372	2.527000	0.85204	0.462000	0.41574	ACG		0.587	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279	
GPR137	56834	broad.mit.edu	37	11	64056613	64056613	+	Splice_Site	SNP	A	A	C			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr11:64056613A>C	ENST00000313074.3	+	7	1136		c.e7-1		KCNK4_ENST00000394525.2_5'Flank|KCNK4_ENST00000422670.2_5'Flank|KCNK4_ENST00000538767.1_5'Flank|GPR137_ENST00000438980.2_Missense_Mutation_p.Q379P|GPR137_ENST00000539851.1_3'UTR|GPR137_ENST00000411458.1_Splice_Site|GPR137_ENST00000377702.4_Missense_Mutation_p.Q329P|RP11-783K16.10_ENST00000539086.1_RNA	NM_020155.3	NP_064540.3	Q96N19	G137A_HUMAN	G protein-coupled receptor 137							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						CTCTTCTCCCAGGTGCCAGGA	0.657																																						uc010rni.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						c.e9-2		Homo sapiens G protein-coupled receptor 137 (GPR137), transcript variant 4, mRNA.							67.0	69.0	68.0					11																	64056613		2201	4297	6498	SO:0001630	splice_region_variant	56834					integral to membrane		g.chr11:64056613A>C	AJ250392	CCDS8066.1, CCDS53655.1, CCDS53656.1, CCDS53657.1, CCDS53658.1	11q13.1	2014-02-12	2006-01-26		ENSG00000173264	ENSG00000173264		"""GPCR / Unclassified : 7TM orphan receptors"""	24300	protein-coding gene	gene with protein product						10873569, 12732197	Standard	NM_001170726		Approved	C11orf4, GPR137A, TM7SF1L1	uc010rni.2	Q96N19	OTTHUMG00000167817	ENST00000313074.3:c.1032-1A>C	11.37:g.64056613A>C						GPR137_uc010rnj.2_3'UTR|GPR137_uc001nzf.3_Missense_Mutation_p.Q329P|GPR137_uc001nzi.3_Missense_Mutation_p.Q379P|GPR137_uc021qkt.1_Splice_Site_p.R344_splice|KCNK4_uc009ypl.1_5'Flank|KCNK4_uc001nzj.1_5'Flank|KCNK4_uc001nzk.1_5'Flank|KCNK4_uc010rnk.1_5'Flank|KCNK4_uc001nzl.1_5'Flank|KCNK4_uc001nzm.4_5'Flank|KCNK4_uc001nzn.1_5'Flank	p.R402_splice	NM_001170726	NP_001164197	Q96N19	G137A_HUMAN			9	1234	+			344					B4DTG7|B7Z7M1|Q4G0Y9|Q8N4K6	Splice_Site	SNP	ENST00000313074.3	37	c.1206_splice	CCDS8066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.41|13.41	2.228633|2.228633	0.39399|0.39399	.|.	.|.	ENSG00000173264|ENSG00000173264	ENST00000411458;ENST00000313074|ENST00000377702;ENST00000438980	.|T	.|0.44482	.|0.92	5.3|5.3	4.15|4.15	0.48705|0.48705	.|.	.|.	.|.	.|.	.|.	.|T	.|0.27967	.|0.0689	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|P;B	.|0.47253	.|0.892;0.002	.|B;B	.|0.37304	.|0.246;0.002	.|T	.|0.02860	.|-1.1101	.|8	.|0.23891	.|T	.|0.37	.|.	9.4771|9.4771	0.38878|0.38878	0.8214:0.1786:0.0:0.0|0.8214:0.1786:0.0:0.0	.|.	.|379;329	.|Q96N19-2;Q96N19-3	.|.;.	.|P	-1|329;379	.|ENSP00000415698:Q379P	.|ENSP00000366931:Q329P	.|Q	+|+	.|2	.|0	GPR137|GPR137	63813189|63813189	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.813000|0.813000	0.45954|0.45954	4.068000|4.068000	0.57534|0.57534	0.930000|0.930000	0.37217|0.37217	-0.466000|-0.466000	0.05196|0.05196	.|CAG		0.657	GPR137-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396412.1	NM_020155	Intron
SCN4B	6330	broad.mit.edu	37	11	118014756	118014756	+	Silent	SNP	C	C	T			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr11:118014756C>T	ENST00000324727.4	-	3	401	c.255G>A	c.(253-255)aaG>aaA	p.K85K	SCN4B_ENST00000529878.1_Intron|SCN4B_ENST00000423160.2_5'Flank	NM_001142349.1|NM_174934.3	NP_001135821.1|NP_777594.1	Q8IWT1	SCN4B_HUMAN	sodium channel, voltage-gated, type IV, beta subunit	85	Ig-like C2-type.				AV node cell to bundle of His cell communication (GO:0086067)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|voltage-gated sodium channel complex (GO:0001518)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126)	Valproic Acid(DB00313)|Zonisamide(DB00909)	ACTTCTCATTCTTCACAGTCC	0.507																																						uc001pse.3																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						c.(253-255)aaG>aaA		Homo sapiens sodium channel, voltage-gated, type IV, beta (SCN4B), transcript variant 1, mRNA.							162.0	147.0	152.0					11																	118014756		2200	4296	6496	SO:0001819	synonymous_variant	6330					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr11:118014756C>T	AY149967	CCDS8389.1, CCDS44744.1	11q23.3	2014-09-17	2012-02-28		ENSG00000177098	ENSG00000177098		"""Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	10592	protein-coding gene	gene with protein product		608256	"""sodium channel, voltage-gated, type IV, beta"""				Standard	NM_174934		Approved	LQT10	uc001pse.3	Q8IWT1	OTTHUMG00000166994	ENST00000324727.4:c.255G>A	11.37:g.118014756C>T						SCN4B_uc010rxu.2_5'UTR|SCN4B_uc010rxv.2_Intron	p.K85K	NM_174934	NP_001135821	Q8IWT1	SCN4B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126)	2	497	-	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	85			Ig-like C2-type.		E9PPT5|Q6PIG5	Silent	SNP	ENST00000324727.4	37	c.255G>A	CCDS8389.1																																																																																				0.507	SCN4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392326.1		
TMEM25	84866	broad.mit.edu	37	11	118404798	118404798	+	Silent	SNP	C	C	T			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr11:118404798C>T	ENST00000313236.5	+	7	944	c.891C>T	c.(889-891)tcC>tcT	p.S297S	TMEM25_ENST00000354064.7_Silent_p.S149S|TMEM25_ENST00000442938.2_Silent_p.S253S|TMEM25_ENST00000359862.4_Silent_p.S253S|TMEM25_ENST00000544878.1_Silent_p.S200S|TMEM25_ENST00000411589.2_Silent_p.S253S|TMEM25_ENST00000354284.4_Silent_p.S297S|TMEM25_ENST00000524725.1_Silent_p.S253S|RP11-770J1.3_ENST00000556583.1_RNA|TMEM25_ENST00000533102.1_Silent_p.S297S	NM_032780.3	NP_116169.2	Q86YD3	TMM25_HUMAN	transmembrane protein 25	297						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		AGAACATGTCCCTCCCGTCCA	0.532																																						uc001ptk.4																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	13						c.(889-891)tcC>tcT		Homo sapiens transmembrane protein 25 (TMEM25), transcript variant 4, mRNA.							114.0	96.0	102.0					11																	118404798		2200	4295	6495	SO:0001819	synonymous_variant	84866					extracellular region|integral to membrane|plasma membrane		g.chr11:118404798C>T	AK075437	CCDS8398.1, CCDS44745.1, CCDS44746.1, CCDS44747.1, CCDS44748.1	11q23.3	2013-01-11			ENSG00000149582	ENSG00000149582		"""Immunoglobulin superfamily / C2-set domain containing"""	25890	protein-coding gene	gene with protein product		613934				15254712, 12975309	Standard	NM_001144034		Approved	FLJ14399	uc010rye.2	Q86YD3	OTTHUMG00000166339	ENST00000313236.5:c.891C>T	11.37:g.118404798C>T						TMEM25_uc010ryf.2_Silent_p.S200S|TMEM25_uc010rye.2_Silent_p.S297S|TMEM25_uc009zad.3_Silent_p.S253S|TMEM25_uc001pth.3_Silent_p.S253S|TMEM25_uc001pti.3_Silent_p.S149S|TMEM25_uc001ptl.2_Silent_p.S297S|TMEM25_uc001ptm.2_Silent_p.S253S	p.S297S	NM_001144037	NP_001137509	Q86YD3	TMM25_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	6	1065	+	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)	297					A8K8J4|B0YJA6|B0YJA7|B0YJA9|G5E9U4|Q6UW89|Q86UA7|Q8NBL5|Q96KA6|Q96MW9	Silent	SNP	ENST00000313236.5	37	c.891C>T	CCDS8398.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.50|10.50	1.368083|1.368083	0.24771|0.24771	.|.	.|.	ENSG00000149582|ENSG00000149582	ENST00000526973|ENST00000526853	.|.	.|.	.|.	5.92|5.92	4.02|4.02	0.46733|0.46733	.|.	.|.	.|.	.|.	.|.	T|T	0.54854|0.54854	0.1884|0.1884	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.52465|0.52465	-0.8572|-0.8572	4|4	.|.	.|.	.|.	-21.8432|-21.8432	5.5519|5.5519	0.17095|0.17095	0.0:0.6683:0.1727:0.159|0.0:0.6683:0.1727:0.159	.|.	.|.	.|.	.|.	L|S	137|132	.|.	.|.	P|P	+|+	2|1	0|0	TMEM25|TMEM25	117910008|117910008	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	0.339000|0.339000	0.19875|0.19875	1.476000|1.476000	0.48215|0.48215	0.561000|0.561000	0.74099|0.74099	CCC|CCT		0.532	TMEM25-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389266.1	NM_032780	
ADAMTS8	11095	broad.mit.edu	37	11	130284455	130284455	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr11:130284455G>C	ENST00000257359.6	-	5	2243	c.1537C>G	c.(1537-1539)Cta>Gta	p.L513V		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	513	Disintegrin.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		TCCTCAGGTAGACAGCTGCCT	0.637																																						uc001qgg.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(1537-1539)Cta>Gta		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.							42.0	47.0	45.0					11																	130284455		2019	4157	6176	SO:0001583	missense	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130284455G>C	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.1537C>G	11.37:g.130284455G>C	ENSP00000257359:p.Leu513Val					ADAMTS8_uc001qgf.3_5'Flank	p.L513V	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	4	1895	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	513			Disintegrin.		Q9NZS0	Missense_Mutation	SNP	ENST00000257359.6	37	c.1537C>G	CCDS41732.1	.	.	.	.	.	.	.	.	.	.	G	1.213	-0.629185	0.03610	.	.	ENSG00000134917	ENST00000257359;ENST00000414575	T	0.53423	0.62	5.59	3.66	0.41972	.	0.426550	0.26227	N	0.025594	T	0.22820	0.0551	N	0.02708	-0.52	0.22127	N	0.99935	B	0.02656	0.0	B	0.01281	0.0	T	0.20107	-1.0285	10	0.02654	T	1	.	18.0957	0.89489	0.0:0.556:0.444:0.0	.	513	Q9UP79	ATS8_HUMAN	V	513;542	ENSP00000257359:L513V	ENSP00000257359:L513V	L	-	1	2	ADAMTS8	129789665	0.088000	0.21588	0.940000	0.37924	0.975000	0.68041	0.630000	0.24553	0.662000	0.31006	0.655000	0.94253	CTA		0.637	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037	
ARNTL2	56938	broad.mit.edu	37	12	27540171	27540171	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr12:27540171G>A	ENST00000266503.5	+	7	593	c.575G>A	c.(574-576)gGc>gAc	p.G192D	ARNTL2_ENST00000546179.1_Missense_Mutation_p.G155D|ARNTL2_ENST00000542388.1_Missense_Mutation_p.G107D|ARNTL2_ENST00000261178.5_Missense_Mutation_p.G144D|ARNTL2_ENST00000395901.2_Missense_Mutation_p.G155D|ARNTL2_ENST00000311001.5_Missense_Mutation_p.G178D|ARNTL2_ENST00000544915.1_Missense_Mutation_p.G158D|RP11-165P7.1_ENST00000500498.2_RNA			Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	192	Interaction with PER2. {ECO:0000250|UniProtKB:Q2VPD4}.|PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					ACTGCAGAAGGCTTCTTATTT	0.333																																						uc001rht.2																			0		p.E191*(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(574-576)gGc>gAc		Homo sapiens aryl hydrocarbon receptor nuclear translocator-like 2 (ARNTL2), transcript variant 1, mRNA.							101.0	103.0	102.0					12																	27540171		2203	4300	6503	SO:0001583	missense	56938				circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:27540171G>A	AF246961	CCDS8712.1, CCDS58219.1, CCDS58220.1, CCDS58221.1, CCDS58222.1	12p12.2-p11.2	2013-05-21			ENSG00000029153	ENSG00000029153		"""Basic helix-loop-helix proteins"""	18984	protein-coding gene	gene with protein product		614517				10864977, 10964693	Standard	NM_020183		Approved	BMAL2, MOP9, CLIF, PASD9, bHLHe6	uc001rht.2	Q8WYA1	OTTHUMG00000169257	ENST00000266503.5:c.575G>A	12.37:g.27540171G>A	ENSP00000266503:p.Gly192Asp					ARNTL2_uc001rhu.2_Missense_Mutation_p.G178D|ARNTL2_uc001rhv.2_Missense_Mutation_p.G144D|ARNTL2_uc001rhw.3_Missense_Mutation_p.G155D|ARNTL2_uc010sjp.2_Missense_Mutation_p.G155D|ARNTL2_uc009zji.2_Missense_Mutation_p.G158D	p.G192D	NM_020183	NP_064568	Q8WYA1	BMAL2_HUMAN			6	794	+	Colorectal(261;0.0847)|Lung SC(9;0.184)		192			PAS 1.		B7Z429|F5H402|Q8WYA2|Q8WYA3|Q8WYA4|Q96J63|Q9H2M4|Q9NS70|Q9NYQ4|Q9NYQ5	Missense_Mutation	SNP	ENST00000266503.5	37	c.575G>A	CCDS8712.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.259537|4.259537	0.80246|0.80246	.|.	.|.	ENSG00000029153|ENSG00000029153	ENST00000457040|ENST00000544915;ENST00000395901;ENST00000546179;ENST00000311001;ENST00000261178;ENST00000266503;ENST00000542388	.|T;T;T;T;T;T;T	.|0.16324	.|2.35;2.35;2.35;2.35;2.35;2.35;2.35	3.79|3.79	3.79|3.79	0.43588|0.43588	.|PAS (2);Helix-loop-helix DNA-binding (1);PAS fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.57388|0.57388	0.2050|0.2050	H|H	0.97896|0.97896	4.1|4.1	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D	.|0.97110	.|1.0;0.999;1.0;1.0;1.0;1.0	T|T	0.75340|0.75340	-0.3352|-0.3352	5|10	.|0.87932	.|D	.|0	.|.	14.3878|14.3878	0.66958|0.66958	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|155;158;155;144;178;192	.|F5H402;Q8WYA1-5;Q8WYA1-3;Q8WYA1-4;Q8WYA1-2;Q8WYA1	.|.;.;.;.;.;BMAL2_HUMAN	T|D	144|158;155;155;178;144;192;107	.|ENSP00000442438:G158D;ENSP00000379238:G155D;ENSP00000438545:G155D;ENSP00000312247:G178D;ENSP00000261178:G144D;ENSP00000266503:G192D;ENSP00000445836:G107D	.|ENSP00000261178:G144D	A|G	+|+	1|2	0|0	ARNTL2|ARNTL2	27431438|27431438	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.603000|6.603000	0.74145|0.74145	2.120000|2.120000	0.65058|0.65058	0.655000|0.655000	0.94253|0.94253	GCT|GGC		0.333	ARNTL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403162.1	NM_020183	
ESPL1	9700	broad.mit.edu	37	12	53663689	53663689	+	Silent	SNP	C	C	T	rs200510757		TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr12:53663689C>T	ENST00000257934.4	+	3	1054	c.963C>T	c.(961-963)gtC>gtT	p.V321V	ESPL1_ENST00000552462.1_Silent_p.V321V	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	321					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CATCAGCTGTCCTGAGCAAGA	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		19821	0.001		0.0	False		,,,				2504	0.0				Colon(53;1069 1201 2587 5382)	uc001sck.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						c.(961-963)gtC>gtT		Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.							88.0	80.0	83.0					12																	53663689		2203	4300	6503	SO:0001819	synonymous_variant	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53663689C>T	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.963C>T	12.37:g.53663689C>T						ESPL1_uc001scj.2_5'UTR	p.V321V	NM_012291	NP_036423	Q14674	ESPL1_HUMAN			2	1054	+			321						Silent	SNP	ENST00000257934.4	37	c.963C>T	CCDS8852.1																																																																																				0.577	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291	
TXNRD1	7296	broad.mit.edu	37	12	104705084	104705084	+	Missense_Mutation	SNP	G	G	A	rs368264904		TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr12:104705084G>A	ENST00000525566.1	+	5	455	c.431G>A	c.(430-432)aGa>aAa	p.R144K	TXNRD1_ENST00000354940.6_5'UTR|TXNRD1_ENST00000524698.1_5'UTR|TXNRD1_ENST00000378070.4_Missense_Mutation_p.R93K|TXNRD1_ENST00000526390.1_Missense_Mutation_p.R38K|TXNRD1_ENST00000388854.3_Missense_Mutation_p.R46K|TXNRD1_ENST00000542918.1_Missense_Mutation_p.R44K|TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000503506.2_5'UTR|TXNRD1_ENST00000429002.2_Missense_Mutation_p.R144K|TXNRD1_ENST00000529546.1_Intron|TXNRD1_ENST00000526691.1_Missense_Mutation_p.R46K|TXNRD1_ENST00000397736.2_Missense_Mutation_p.R38K|TXNRD1_ENST00000427956.1_Missense_Mutation_p.R109K|TXNRD1_ENST00000526950.1_Missense_Mutation_p.R63K	NM_001093771.2	NP_001087240.1	Q16881	TRXR1_HUMAN	thioredoxin reductase 1	144	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	CAGGAGGGCAGACTTCAAAAG	0.373																																					Ovarian(139;555 1836 9186 9946 10884)	uc021rcx.1																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						c.(430-432)aGa>aAa		Homo sapiens thioredoxin reductase 1 (TXNRD1), transcript variant 5, mRNA.							66.0	57.0	60.0					12																	104705084		1828	4090	5918	SO:0001583	missense	7296				cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr12:104705084G>A		CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000525566.1:c.431G>A	12.37:g.104705084G>A	ENSP00000434516:p.Arg144Lys					TXNRD1_uc021rcy.1_Missense_Mutation_p.R46K|TXNRD1_uc021rcz.1_5'UTR|TXNRD1_uc021rda.1_5'UTR|TXNRD1_uc021rdb.1_5'UTR|TXNRD1_uc010swp.2_Intron|TXNRD1_uc010swq.2_Missense_Mutation_p.R44K|TXNRD1_uc001tku.3_Non-coding_Transcript|TXNRD1_uc009zun.3_Missense_Mutation_p.R60K|TXNRD1_uc001tkv.2_Non-coding_Transcript	p.R144K	NM_001093771		Q16881	TRXR1_HUMAN			4	453	+			144			Glutaredoxin.		B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Missense_Mutation	SNP	ENST00000525566.1	37	c.431G>A	CCDS53820.1	.	.	.	.	.	.	.	.	.	.	G	5.352	0.250287	0.10130	.	.	ENSG00000198431	ENST00000525566;ENST00000429002;ENST00000526691;ENST00000531691;ENST00000388854;ENST00000526390;ENST00000528079;ENST00000542918;ENST00000378070;ENST00000397736;ENST00000427956;ENST00000526950	T;T;T;T;T;T;T;T;T;T;T	0.76316	1.71;1.71;1.71;-1.01;1.71;-0.27;1.71;1.71;-0.27;-0.34;-0.29	5.51	-4.76	0.03229	Glutaredoxin (1);Thioredoxin-like fold (2);	0.774566	0.12661	N	0.449676	T	0.39036	0.1063	N	0.03194	-0.395	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.001;0.002;0.001	T	0.46992	-0.9151	10	0.05721	T	0.95	-0.5065	0.1941	0.00138	0.274:0.1954:0.1743:0.3563	.	44;46;144;109	B7Z2S5;Q16881-4;Q16881;E7EW10	.;.;TRXR1_HUMAN;.	K	144;144;46;38;46;38;63;44;93;38;109;63	ENSP00000434516:R144K;ENSP00000412045:R144K;ENSP00000435929:R46K;ENSP00000431925:R38K;ENSP00000373506:R46K;ENSP00000435123:R38K;ENSP00000440978:R44K;ENSP00000367310:R93K;ENSP00000380844:R38K;ENSP00000393328:R109K;ENSP00000432812:R63K	ENSP00000367310:R93K	R	+	2	0	TXNRD1	103229214	0.004000	0.15560	0.006000	0.13384	0.947000	0.59692	0.005000	0.13129	-0.415000	0.07484	0.585000	0.79938	AGA		0.373	TXNRD1-001	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000389960.1	NM_003330	
AACS	65985	broad.mit.edu	37	12	125609456	125609457	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr12:125609456_125609457delCA	ENST00000316519.6	+	12	1401_1402	c.1195_1196delCA	c.(1195-1197)cacfs	p.H399fs	AACS_ENST00000261686.6_Frame_Shift_Del_p.H399fs|AACS_ENST00000316543.10_5'UTR|AACS_ENST00000545511.1_5'UTR	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	399					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		AGTGGAAACCCACAGTCTCCAG	0.505																																						uc001uhc.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26						c.(1195-1197)cacfs		Homo sapiens acetoacetyl-CoA synthetase (AACS), mRNA.																																				SO:0001589	frameshift_variant	65985				fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding	g.chr12:125609456_125609457delCA	AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"""Acyl-CoA synthetase family"""	21298	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 1"""	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.1195_1196delCA	12.37:g.125609458_125609459delCA	ENSP00000324842:p.His399fs					AACS_uc001uhd.3_Frame_Shift_Del_p.H399fs|AACS_uc009zyh.3_Intron|AACS_uc009zyi.3_5'UTR	p.H399fs	NM_023928	NP_076417	Q86V21	AACS_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)	11	1401_1402	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		399					Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Frame_Shift_Del	DEL	ENST00000316519.6	37	c.1195_1196delCA	CCDS9263.1																																																																																				0.505	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400202.1	NM_023928	
LRRC57	255252	broad.mit.edu	37	15	42836285	42836285	+	Missense_Mutation	SNP	G	G	A	rs199784203		TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr15:42836285G>A	ENST00000323443.2	-	5	1083	c.716C>T	c.(715-717)gCg>gTg	p.A239V	LRRC57_ENST00000563454.1_Missense_Mutation_p.A239V|LRRC57_ENST00000397130.3_Missense_Mutation_p.A239V			Q8N9N7	LRC57_HUMAN	leucine rich repeat containing 57	239						extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|lung(5)|prostate(1)	8		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)		GBM - Glioblastoma multiforme(94;6.87e-07)		AGAACTTCACGCAAACTTCTT	0.408																																						uc001zqd.2																			0				breast(1)|kidney(1)|lung(5)|prostate(1)	8						c.(715-717)gCg>gTg		Homo sapiens leucine rich repeat containing 57 (LRRC57), mRNA.							142.0	135.0	138.0					15																	42836285		2203	4299	6502	SO:0001583	missense	255252							g.chr15:42836285G>A	AK094891	CCDS10089.1	15q15.1	2006-02-13			ENSG00000180979	ENSG00000180979			26719	protein-coding gene	gene with protein product							Standard	NM_153260		Approved	FLJ36812	uc001zqc.3	Q8N9N7	OTTHUMG00000130679	ENST00000323443.2:c.716C>T	15.37:g.42836285G>A	ENSP00000326817:p.Ala239Val					LRRC57_uc001zqc.3_Missense_Mutation_p.A239V	p.A239V	NM_153260	NP_694992	Q8N9N7	LRC57_HUMAN		GBM - Glioblastoma multiforme(94;6.87e-07)	4	1084	-		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)	239					Q7Z2Z6|Q8N1T6	Missense_Mutation	SNP	ENST00000323443.2	37	c.716C>T	CCDS10089.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.975996	0.92982	.	.	ENSG00000180979	ENST00000323443;ENST00000397130	T;T	0.43294	0.95;0.95	5.59	4.68	0.58851	.	0.053004	0.85682	D	0.000000	T	0.42854	0.1221	M	0.62723	1.935	0.52501	D	0.999954	B	0.13594	0.008	B	0.06405	0.002	T	0.39563	-0.9608	10	0.72032	D	0.01	.	14.4515	0.67389	0.0709:0.0:0.9291:0.0	.	239	Q8N9N7	LRC57_HUMAN	V	239	ENSP00000326817:A239V;ENSP00000380319:A239V	ENSP00000326817:A239V	A	-	2	0	LRRC57	40623577	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.345000	0.79337	1.370000	0.46153	0.555000	0.69702	GCG		0.408	LRRC57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253174.1	NM_153260	
HMG20A	10363	broad.mit.edu	37	15	77771653	77771653	+	Missense_Mutation	SNP	G	G	A	rs372307524		TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr15:77771653G>A	ENST00000381714.3	+	10	1468	c.1040G>A	c.(1039-1041)cGt>cAt	p.R347H	HMG20A_ENST00000336216.4_Missense_Mutation_p.R347H	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN	high mobility group 20A	347					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						AGACTCGATCGTTAGGGAATG	0.368																																						uc002bcr.3																			0		p.D346N(1)|p.D346Y(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(1039-1041)cGt>cAt		Homo sapiens high mobility group 20A (HMG20A), mRNA.		G	HIS/ARG	0,4392		0,0,2196	102.0	103.0	103.0		1040	6.0	1.0	15		103	1,8587	1.2+/-3.3	0,1,4293	no	missense	HMG20A	NM_018200.2	29	0,1,6489	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	347/348	77771653	1,12979	2196	4294	6490	SO:0001583	missense	10363				chromatin modification	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:77771653G>A	AF146222	CCDS10295.1	15q24	2011-07-01	2011-04-05		ENSG00000140382	ENSG00000140382		"""High mobility group / Non-canonical"""	5001	protein-coding gene	gene with protein product	"""HMG box domain containing 1"""	605534	"""high-mobility group 20A"""			10773667	Standard	NM_018200		Approved	HMGX1, FLJ10739, HMGXB1	uc002bcr.3	Q9NP66	OTTHUMG00000143729	ENST00000381714.3:c.1040G>A	15.37:g.77771653G>A	ENSP00000371133:p.Arg347His					HMG20A_uc002bcs.3_Missense_Mutation_p.R347H|HMG20A_uc021sra.1_5'Flank	p.R347H	NM_018200	NP_060670	Q9NP66	HM20A_HUMAN			9	1241	+			347					A6NHY3|D3DW78|Q53G31|Q9NSF6	Missense_Mutation	SNP	ENST00000381714.3	37	c.1040G>A	CCDS10295.1	.	.	.	.	.	.	.	.	.	.	G	35	5.484769	0.96323	0.0	1.16E-4	ENSG00000140382	ENST00000336216;ENST00000381714	T;T	0.74421	-0.84;-0.84	6.03	6.03	0.97812	.	0.152210	0.56097	D	0.000028	D	0.84875	0.5569	L	0.54323	1.7	0.58432	D	0.99999	D	0.89917	1.0	D	0.80764	0.994	D	0.84727	0.0743	10	0.87932	D	0	.	20.5752	0.99366	0.0:0.0:1.0:0.0	.	347	Q9NP66	HM20A_HUMAN	H	347	ENSP00000336856:R347H;ENSP00000371133:R347H	ENSP00000336856:R347H	R	+	2	0	HMG20A	75558708	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.096000	0.94182	2.868000	0.98415	0.557000	0.71058	CGT		0.368	HMG20A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419512.2	NM_018200	
TMC3	342125	broad.mit.edu	37	15	81627093	81627093	+	Silent	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr15:81627093G>A	ENST00000359440.5	-	21	2562	c.2427C>T	c.(2425-2427)gtC>gtT	p.V809V	RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000558726.1_Silent_p.V810V	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TGGATTTGGGGACCCCAGGGA	0.572																																						uc021ssk.1																			0				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(2425-2427)gtC>gtT		Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.							54.0	56.0	55.0					15																	81627093		1930	4124	6054	SO:0001819	synonymous_variant	342125					integral to membrane		g.chr15:81627093G>A	AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.2427C>T	15.37:g.81627093G>A						TMC3_uc021ssj.1_3'UTR|TMC3_uc010blr.1_Non-coding_Transcript	p.V809V	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN			20	2427	-			809						Silent	SNP	ENST00000359440.5	37	c.2427C>T	CCDS45324.1																																																																																				0.572	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841	
OTOA	146183	broad.mit.edu	37	16	21716537	21716537	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr16:21716537C>T	ENST00000286149.4	+	11	1071	c.1070C>T	c.(1069-1071)gCc>gTc	p.A357V	OTOA_ENST00000388958.3_Missense_Mutation_p.A343V|OTOA_ENST00000388957.3_Missense_Mutation_p.A19V|OTOA_ENST00000569064.1_3'UTR|OTOA_ENST00000388956.4_Missense_Mutation_p.A264V			Q7RTW8	OTOAN_HUMAN	otoancorin	357					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		TTGCTGGATGCCACTGTGGCT	0.577																																						uc002djh.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46						c.(1027-1029)gCc>gTc		Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.							117.0	107.0	110.0					16																	21716537		2199	4300	6499	SO:0001583	missense	146183				sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		g.chr16:21716537C>T	AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.1070C>T	16.37:g.21716537C>T	ENSP00000286149:p.Ala357Val					LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Missense_Mutation_p.A264V|OTOA_uc002dji.3_Missense_Mutation_p.A19V|OTOA_uc010vbk.2_5'UTR	p.A343V	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	10	1029	+			357					A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	ENST00000286149.4	37	c.1028C>T		.	.	.	.	.	.	.	.	.	.	C	15.54	2.862500	0.51482	.	.	ENSG00000155719	ENST00000388958;ENST00000286149;ENST00000388956;ENST00000388957	T;T;T;T	0.77489	2.58;-1.1;2.58;-1.1	5.3	5.3	0.74995	.	0.195158	0.44097	D	0.000481	T	0.79799	0.4508	M	0.62723	1.935	0.28877	N	0.894633	P;P;P	0.43477	0.808;0.808;0.702	P;P;P	0.46585	0.521;0.461;0.521	T	0.75789	-0.3194	10	0.33141	T	0.24	-10.7692	16.4606	0.84044	0.0:1.0:0.0:0.0	.	264;19;343	B3KWU3;Q7RTW8-2;E9PF51	.;.;.	V	343;357;264;19	ENSP00000373610:A343V;ENSP00000286149:A357V;ENSP00000373608:A264V;ENSP00000373609:A19V	ENSP00000286149:A357V	A	+	2	0	OTOA	21624038	0.115000	0.22152	0.781000	0.31783	0.830000	0.47004	3.972000	0.56838	2.480000	0.83734	0.561000	0.74099	GCC		0.577	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1		
GDPD3	79153	broad.mit.edu	37	16	30123709	30123709	+	Missense_Mutation	SNP	C	C	T	rs76435425	byFrequency	TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr16:30123709C>T	ENST00000406256.3	-	5	778	c.401G>A	c.(400-402)cGt>cAt	p.R134H	MAPK3_ENST00000494643.1_5'Flank|RP11-455F5.4_ENST00000566190.1_RNA	NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	134	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						GTCCTCCAGACGAACCATGCG	0.602											OREG0023731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	2	0.000399361	0.0	0.0	5008	,	,		15417	0.002		0.0	False		,,,				2504	0.0					uc002dwp.3																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						c.(400-402)cGt>cAt		Homo sapiens glycerophosphodiester phosphodiesterase domain containing 3 (GDPD3), mRNA.		C	HIS/ARG	0,4394		0,0,2197	87.0	83.0	85.0		401	4.8	0.0	16	dbSNP_131	85	1,8599	1.2+/-3.3	0,1,4299	yes	missense	GDPD3	NM_024307.2	29	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	134/319	30123709	1,12993	2197	4300	6497	SO:0001583	missense	79153				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr16:30123709C>T	AK026256	CCDS10671.2	16p11.2	2008-02-05			ENSG00000102886	ENSG00000102886			28638	protein-coding gene	gene with protein product							Standard	NM_024307		Approved	MGC4171	uc002dwp.3	Q7L5L3	OTTHUMG00000132106	ENST00000406256.3:c.401G>A	16.37:g.30123709C>T	ENSP00000384363:p.Arg134His		OREG0023731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	814	BOLA2_uc010bzb.1_Intron|GDPD3_uc002dwq.3_Missense_Mutation_p.R72H|NR_027081_uc010vei.1_5'Flank	p.R134H	NM_024307	NP_077283	Q7L5L3	GDPD3_HUMAN			4	480	-			134			GDPD.		Q9H652	Missense_Mutation	SNP	ENST00000406256.3	37	c.401G>A	CCDS10671.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	18.89	3.720019	0.68844	0.0	1.16E-4	ENSG00000102886	ENST00000406256;ENST00000360688	T	0.11930	2.73	5.79	4.81	0.61882	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.528397	0.20642	N	0.088389	T	0.28366	0.0701	M	0.75777	2.31	0.09310	N	1	D	0.63046	0.992	P	0.54965	0.765	T	0.14090	-1.0485	10	0.25751	T	0.34	.	12.6531	0.56772	0.0:0.8339:0.1661:0.0	.	134	Q7L5L3	GDPD3_HUMAN	H	134;72	ENSP00000384363:R134H	ENSP00000353909:R72H	R	-	2	0	GDPD3	30031210	0.008000	0.16893	0.013000	0.15412	0.791000	0.44710	2.182000	0.42556	1.401000	0.46761	0.655000	0.94253	CGT		0.602	GDPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255144.1	NM_024307	
IRF8	3394	broad.mit.edu	37	16	85952071	85952071	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr16:85952071G>A	ENST00000268638.5	+	7	1072	c.650G>A	c.(649-651)gGc>gAc	p.G217D	IRF8_ENST00000562492.1_Missense_Mutation_p.G13D	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	217					cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				AAGCTGGTGGGCCAGGCCACC	0.662																																						uc002fjh.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24						c.(649-651)gGc>gAc		Homo sapiens interferon regulatory factor 8 (IRF8), mRNA.							58.0	66.0	63.0					16																	85952071		2196	4292	6488	SO:0001583	missense	3394				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:85952071G>A	M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968			5358	protein-coding gene	gene with protein product		601565	"""interferon consensus sequence binding protein 1"""	ICSBP1		1460054, 11997525	Standard	NM_002163		Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.650G>A	16.37:g.85952071G>A	ENSP00000268638:p.Gly217Asp						p.G217D	NM_002163	NP_002154	Q02556	IRF8_HUMAN			6	707	+		Prostate(104;0.0771)	217					A0AV82	Missense_Mutation	SNP	ENST00000268638.5	37	c.650G>A	CCDS10956.1	.	.	.	.	.	.	.	.	.	.	G	8.524	0.869404	0.17322	.	.	ENSG00000140968	ENST00000268638	D	0.95238	-3.65	4.95	4.95	0.65309	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.162213	0.56097	D	0.000038	D	0.93307	0.7867	M	0.75615	2.305	0.46901	D	0.999243	B	0.18461	0.028	B	0.30646	0.118	D	0.89160	0.3529	10	0.18276	T	0.48	-37.7205	11.9924	0.53182	0.0801:0.0:0.9199:0.0	.	217	Q02556	IRF8_HUMAN	D	217	ENSP00000268638:G217D	ENSP00000268638:G217D	G	+	2	0	IRF8	84509572	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.634000	0.61325	2.453000	0.82957	0.650000	0.86243	GGC		0.662	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269100.2	NM_002163	
SPAG5	10615	broad.mit.edu	37	17	26907060	26907064	+	Frame_Shift_Del	DEL	GGAAG	GGAAG	-			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr17:26907060_26907064delGGAAG	ENST00000321765.5	-	16	3092_3096	c.2760_2764delCTTCC	c.(2758-2766)accttcctgfs	p.FL921fs	ALDOC_ENST00000226253.4_5'Flank	NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	921					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					ATGCTTCCCAGGAAGGTCCTGTCAT	0.507																																						uc002hbq.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2758-2766)accttcctgfs		Homo sapiens sperm associated antigen 5 (SPAG5), mRNA.																																				SO:0001589	frameshift_variant	10615				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding	g.chr17:26907060_26907064delGGAAG	AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"""mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126"""	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.2760_2764delCTTCC	17.37:g.26907060_26907064delGGAAG	ENSP00000323300:p.Phe921fs					SPAG5_uc010waq.1_Frame_Shift_Del_p.T325fs	p.T920fs	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN			15	2852_2856	-	Lung NSC(42;0.00431)		920					O95213|Q9BWE8|Q9NT17|Q9UFE6	Frame_Shift_Del	DEL	ENST00000321765.5	37	c.2760_2764delCTTCC	CCDS32594.1																																																																																				0.507	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461	
MYO18A	399687	broad.mit.edu	37	17	27424907	27424907	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr17:27424907T>C	ENST00000527372.1	-	26	4181	c.4001A>G	c.(4000-4002)gAt>gGt	p.D1334G	MYO18A_ENST00000354329.4_Missense_Mutation_p.D1334G|MYO18A_ENST00000533112.1_Missense_Mutation_p.D1334G|MYO18A_ENST00000531253.1_Missense_Mutation_p.D1334G	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1334					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CTTCAGTGCATCGTACTGGGT	0.542																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	uc002hdt.1																			0				NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36						c.(4000-4002)gAt>gGt		Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA.							117.0	120.0	119.0					17																	27424907		2114	4243	6357	SO:0001583	missense	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27424907T>C	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.4001A>G	17.37:g.27424907T>C	ENSP00000437073:p.Asp1334Gly					MYO18A_uc010wbc.1_Missense_Mutation_p.D876G|MYO18A_uc002hds.2_Missense_Mutation_p.D876G|MYO18A_uc010csa.1_Missense_Mutation_p.D1334G|MYO18A_uc002hdu.1_Missense_Mutation_p.D1334G|MYO18A_uc010wbd.1_Missense_Mutation_p.D1003G	p.D1334G	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		25	4159	-			1334					Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	c.4001A>G	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.355528	0.82243	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428	T;D;T;T	0.89343	-1.12;-2.5;-1.12;-1.12	5.66	5.66	0.87406	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.88687	0.6504	L	0.58669	1.825	0.50039	D	0.999846	B;P;P;P;P	0.38827	0.002;0.51;0.649;0.649;0.623	B;B;B;B;B	0.41299	0.012;0.273;0.254;0.254;0.353	D	0.89371	0.3675	10	0.62326	D	0.03	.	15.8923	0.79309	0.0:0.0:0.0:1.0	.	1003;946;1334;1334;1334	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	G	1334;1334;1334;1334;1334;230;230;946	ENSP00000346291:D1334G;ENSP00000435932:D1334G;ENSP00000434228:D1334G;ENSP00000437073:D1334G	ENSP00000346291:D1334G	D	-	2	0	MYO18A	24449033	1.000000	0.71417	0.993000	0.49108	0.835000	0.47333	4.705000	0.61838	2.157000	0.67596	0.533000	0.62120	GAT		0.542	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471	
ACE	1636	broad.mit.edu	37	17	61571327	61571327	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr17:61571327G>A	ENST00000290866.4	+	21	3205	c.3181G>A	c.(3181-3183)Gcc>Acc	p.A1061T	ACE_ENST00000290863.6_Missense_Mutation_p.A487T|ACE_ENST00000577647.1_Missense_Mutation_p.A487T|ACE_ENST00000490216.2_Missense_Mutation_p.A487T|ACE_ENST00000421982.2_Missense_Mutation_p.A307T|ACE_ENST00000428043.1_Missense_Mutation_p.A1061T|ACE_ENST00000413513.3_Missense_Mutation_p.A487T	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	1061	Peptidase M2 2.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TGACAAGATCGCCTTTATCCC	0.552																																						uc002jau.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(3181-3183)Gcc>Acc		Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)						154.0	120.0	132.0					17																	61571327		2203	4300	6503	SO:0001583	missense	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61571327G>A	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.3181G>A	17.37:g.61571327G>A	ENSP00000290866:p.Ala1061Thr					ACE_uc010wpj.2_Missense_Mutation_p.A487T|ACE_uc010ddv.2_Missense_Mutation_p.A288T|ACE_uc002jav.2_Missense_Mutation_p.A487T|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_Missense_Mutation_p.A307T	p.A1061T	NM_000789	NP_000780	P12821	ACE_HUMAN			20	3215	+			1061			Peptidase M2 2.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	c.3181G>A	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.207890	0.39003	.	.	ENSG00000159640	ENST00000290866;ENST00000428043;ENST00000290863;ENST00000413513;ENST00000421982	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	4.39	2.31	0.28768	.	0.169037	0.51477	N	0.000089	T	0.47266	0.1436	M	0.81942	2.565	0.58432	D	0.99999	P;P;P;B	0.52842	0.956;0.752;0.464;0.279	P;P;B;B	0.45971	0.481;0.499;0.147;0.057	T	0.50268	-0.8848	10	0.59425	D	0.04	-24.8811	9.3683	0.38239	0.0808:0.1451:0.7742:0.0	.	307;487;487;1061	F6X3S4;B4DXI3;P12821-3;P12821	.;.;.;ACE_HUMAN	T	1061;1061;487;487;307	ENSP00000290866:A1061T;ENSP00000397593:A1061T;ENSP00000290863:A487T;ENSP00000392247:A487T;ENSP00000387760:A307T	ENSP00000290863:A487T	A	+	1	0	ACE	58925059	1.000000	0.71417	0.845000	0.33349	0.794000	0.44872	5.488000	0.66869	0.370000	0.24538	0.561000	0.74099	GCC		0.552	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2		
PHLPP1	23239	broad.mit.edu	37	18	60645528	60645528	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr18:60645528C>T	ENST00000262719.5	+	17	4252	c.4018C>T	c.(4018-4020)Cgc>Tgc	p.R1340C	PHLPP1_ENST00000400316.4_Missense_Mutation_p.R828C			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1340	PP2C-like.				apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						TGAGTCCACGCGCATCCTGGG	0.582																																						uc021ule.1																			0				endometrium(2)|kidney(2)|lung(13)	17						c.(4018-4020)Cgc>Tgc		Homo sapiens PH domain and leucine rich repeat protein phosphatase 1 (PHLPP1), mRNA.							45.0	50.0	48.0					18																	60645528		2149	4250	6399	SO:0001583	missense	23239				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	g.chr18:60645528C>T	AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	20610	protein-coding gene	gene with protein product		609396	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.4018C>T	18.37:g.60645528C>T	ENSP00000262719:p.Arg1340Cys						p.R1340C	NM_194449	NP_919431	O60346	PHLP1_HUMAN			16	4263	+			1340			PP2C-like.		A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	ENST00000262719.5	37	c.4018C>T	CCDS45881.2	.	.	.	.	.	.	.	.	.	.	C	20.7	4.030931	0.75504	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.60040	0.22;0.22	4.54	4.54	0.55810	Protein phosphatase 2C-like (4);	.	.	.	.	T	0.80513	0.4637	M	0.93763	3.455	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.85156	0.0989	9	0.87932	D	0	-16.6852	12.447	0.55657	0.2109:0.7891:0.0:0.0	.	1340	O60346	PHLP1_HUMAN	C	828;1340	ENSP00000383170:R828C;ENSP00000262719:R1340C	ENSP00000262719:R1340C	R	+	1	0	PHLPP1	58796508	0.998000	0.40836	0.997000	0.53966	0.993000	0.82548	3.769000	0.55303	2.349000	0.79799	0.655000	0.94253	CGC		0.582	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449	
ATP8B3	148229	broad.mit.edu	37	19	1795945	1795945	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr19:1795945C>T	ENST00000310127.6	-	18	2222	c.1984G>A	c.(1984-1986)Gcc>Acc	p.A662T	ATP8B3_ENST00000525591.1_Missense_Mutation_p.A615T|ATP8B3_ENST00000539485.1_Missense_Mutation_p.A662T	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	662					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCGTGTCGGCGCCCTTGGTG	0.632											OREG0025127	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002ltw.3																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23						c.(1984-1986)Gcc>Acc		Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 3 (ATP8B3), transcript variant 1, mRNA.							74.0	79.0	78.0					19																	1795945		1986	4160	6146	SO:0001583	missense	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1795945C>T	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.1984G>A	19.37:g.1795945C>T	ENSP00000311336:p.Ala662Thr		OREG0025127	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	598	ATP8B3_uc002ltv.3_Missense_Mutation_p.A615T|ATP8B3_uc002ltx.3_Non-coding_Transcript	p.A662T	NM_138813	NP_620168	O60423	AT8B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	17	2218	-		Hepatocellular(1079;0.137)	662					Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	37	c.1984G>A	CCDS45901.1	.	.	.	.	.	.	.	.	.	.	C	31	5.099646	0.94197	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591	D;D;D	0.86694	-2.16;-2.16;-2.16	4.81	4.81	0.61882	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.96153	0.8746	H	0.97983	4.12	0.52501	D	0.999956	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98008	1.0364	10	0.87932	D	0	.	16.9213	0.86165	0.0:1.0:0.0:0.0	.	662;615	O60423;Q7Z485	AT8B3_HUMAN;.	T	662;662;615	ENSP00000311336:A662T;ENSP00000443574:A662T;ENSP00000437115:A615T	ENSP00000311336:A662T	A	-	1	0	ATP8B3	1746945	1.000000	0.71417	0.966000	0.40874	0.614000	0.37383	7.605000	0.82844	2.240000	0.73641	0.555000	0.69702	GCC		0.632	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813	
MYO9B	4650	broad.mit.edu	37	19	17320489	17320489	+	Missense_Mutation	SNP	C	C	T	rs190164544		TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr19:17320489C>T	ENST00000594824.1	+	36	5866	c.5719C>T	c.(5719-5721)Cgc>Tgc	p.R1907C	MYO9B_ENST00000397274.2_Missense_Mutation_p.R1907C|MYO9B_ENST00000595618.1_Missense_Mutation_p.R1907C|CTD-3032J10.3_ENST00000601929.1_RNA			Q13459	MYO9B_HUMAN	myosin IXB	1907	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						TATCGCCTTCCGCAGGCTTTC	0.587													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20480	0.0		0.0	False		,,,				2504	0.0					uc010eak.3																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.(5719-5721)Cgc>Tgc		Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.							61.0	74.0	70.0					19																	17320489		2097	4220	6317	SO:0001583	missense	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17320489C>T		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.5719C>T	19.37:g.17320489C>T	ENSP00000471367:p.Arg1907Cys					MYO9B_uc002nfi.3_Missense_Mutation_p.R1907C|MYO9B_uc002nfj.1_Missense_Mutation_p.R1907C|MYO9B_uc002nfm.1_Missense_Mutation_p.R67C	p.R1907C	NM_004145	NP_004136	Q13459	MYO9B_HUMAN			35	5871	+			1907			Tail.		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37	c.5719C>T		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	14.49	2.551419	0.45487	.	.	ENSG00000099331	ENST00000397274;ENST00000319396	D	0.84873	-1.91	3.87	2.78	0.32641	.	0.000000	0.42172	D	0.000749	D	0.86548	0.5959	L	0.41236	1.265	0.21020	N	0.999807	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.993;0.993;0.995	T	0.76280	-0.3017	10	0.54805	T	0.06	.	7.9627	0.30081	0.1825:0.6407:0.1768:0.0	.	1907;1907;1913	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	C	1907;252	ENSP00000380444:R1907C	ENSP00000314032:R252C	R	+	1	0	MYO9B	17181489	0.997000	0.39634	0.498000	0.27564	0.545000	0.35147	3.972000	0.56838	0.923000	0.37045	0.462000	0.41574	CGC		0.587	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1		
CRTC1	23373	broad.mit.edu	37	19	18870986	18870986	+	Silent	SNP	C	C	T	rs140237275	byFrequency	TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr19:18870986C>T	ENST00000321949.8	+	8	860	c.834C>T	c.(832-834)acC>acT	p.T278T	CRTC1_ENST00000338797.6_Silent_p.T294T|CRTC1_ENST00000594658.1_Silent_p.T237T|CRTC1_ENST00000601916.1_Silent_p.T203T	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1										CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						CCAGCAGCACCGGCAACCTCG	0.697																																						uc010ebv.3																		CRTC1/MAML2(516)	0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						c.(880-882)acC>acT		Homo sapiens CREB regulated transcription coactivator 1 (CRTC1), transcript variant 3, mRNA.		C	,	3,4403	4.2+/-10.8	0,3,2200	40.0	46.0	44.0		882,834	-0.8	1.0	19	dbSNP_134	44	3,8589	3.0+/-9.4	0,3,4293	no	coding-synonymous,coding-synonymous	CRTC1	NM_001098482.1,NM_015321.2	,	0,6,6493	TT,TC,CC		0.0349,0.0681,0.0462	,	294/651,278/635	18870986	6,12992	2203	4296	6499	SO:0001819	synonymous_variant	23373				interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding	g.chr19:18870986C>T	AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"""transducer of regulated cAMP response element-binding protein"""	607536	"""mucoepidermoid carcinoma translocated 1"""	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.834C>T	19.37:g.18870986C>T						CRTC1_uc002nkb.4_Silent_p.T278T|CRTC1_uc010ebw.3_Silent_p.T143T	p.T294T	NM_001098482	NP_001091952	Q6UUV9	CRTC1_HUMAN			8	970	+			278						Silent	SNP	ENST00000321949.8	37	c.882C>T	CCDS32963.1																																																																																				0.697	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465151.3	NM_025021	
CD177	57126	broad.mit.edu	37	19	43859911	43859911	+	RNA	SNP	G	G	C			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr19:43859911G>C	ENST00000607517.1	+	0	534				CD177_ENST00000378009.4_RNA|CD177_ENST00000378012.2_RNA			Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				ACACTGTTATGATGGCCTCCT	0.582																																						uc002owi.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(478-480)Gat>Cat		Homo sapiens CD177 molecule (CD177), mRNA.							56.0	55.0	56.0					19																	43859911		1889	4112	6001			57126				blood coagulation|leukocyte migration	anchored to membrane|plasma membrane		g.chr19:43859911G>C	AF146747	CCDS62700.1	19q13.31	2013-10-02	2006-03-28		ENSG00000204936	ENSG00000204936		"""CD molecules"""	30072	protein-coding gene	gene with protein product	"""polycythemia rubra vera 1"""	162860	"""CD177 antigen"""			10753836, 5552408	Standard	NM_020406		Approved	PRV1, HNA2A, NB1	uc002owi.3	Q8N6Q3	OTTHUMG00000185320		19.37:g.43859911G>C						CD177_uc010eis.3_Non-coding_Transcript|CD177_uc002owj.3_Non-coding_Transcript	p.D160H	NM_020406	NP_065139	Q8N6Q3	CD177_HUMAN			3	520	+		Prostate(69;0.00682)	160			UPAR/Ly6 1.		Q711Q2|Q8NCV9|Q96QH1|Q9HDA5	Missense_Mutation	SNP	ENST00000607517.1	37	c.478G>C		.	.	.	.	.	.	.	.	.	.	g	6.954	0.545898	0.13312	.	.	ENSG00000204936	ENST00000378009	T	0.69040	-0.37	3.46	-2.14	0.07123	CD59 antigen (1);	.	.	.	.	T	0.50000	0.1590	L	0.36672	1.1	0.09310	N	0.999998	B	0.14805	0.011	B	0.12156	0.007	T	0.38866	-0.9641	9	0.52906	T	0.07	.	4.7442	0.13029	0.385:0.1993:0.4156:0.0	.	160	Q8N6Q3	CD177_HUMAN	H	160	ENSP00000367248:D160H	ENSP00000367248:D160H	D	+	1	0	CD177	48551751	0.002000	0.14202	0.021000	0.16686	0.002000	0.02628	-0.457000	0.06745	-0.497000	0.06641	-0.537000	0.04273	GAT		0.582	CD177-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000470162.1	NM_020406	
TPO	7173	broad.mit.edu	37	2	1457495	1457495	+	Missense_Mutation	SNP	C	C	T	rs139312937		TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr2:1457495C>T	ENST00000345913.4	+	6	603	c.512C>T	c.(511-513)aCg>aTg	p.T171M	TPO_ENST00000329066.4_Missense_Mutation_p.T171M|TPO_ENST00000382201.3_Missense_Mutation_p.T171M|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.T171M|TPO_ENST00000382198.1_Missense_Mutation_p.T171M|TPO_ENST00000349624.3_Missense_Mutation_p.T171M|TPO_ENST00000346956.3_Missense_Mutation_p.T171M	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	171					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)	p.T171M(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GCCTCCAACACGGCCCTGGCA	0.587																																						uc002qwr.3																			1	Substitution - Missense(1)	p.T171M(2)	large_intestine(1)	breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(511-513)aCg>aTg		Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	C	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	70.0	78.0	75.0		512,512,512,512,512,512	5.3	1.0	2	dbSNP_134	75	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	TPO	NM_000547.5,NM_001206744.1,NM_001206745.1,NM_175719.3,NM_175721.3,NM_175722.3	81,81,81,81,81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	171/934,171/934,171/877,171/877,171/890,171/761	1457495	1,13005	2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1457495C>T		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.512C>T	2.37:g.1457495C>T	ENSP00000318820:p.Thr171Met					TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Missense_Mutation_p.T171M|TPO_uc002qwx.3_Missense_Mutation_p.T171M|TPO_uc002qwu.3_Missense_Mutation_p.T171M|TPO_uc010yio.2_Missense_Mutation_p.T171M|TPO_uc010yip.2_Missense_Mutation_p.T171M	p.T171M	NM_001206744	NP_001193673	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	5	598	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	171					P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.512C>T	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.676017	0.67928	0.0	1.16E-4	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000423320;ENST00000382198;ENST00000422464	T;T;T;T;T;T;T;T;T	0.74842	-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.88;-0.5;-0.5	5.27	5.27	0.74061	.	0.145775	0.64402	D	0.000010	D	0.85847	0.5792	M	0.70842	2.15	0.80722	D	1	D;D;D;D	0.89917	0.989;1.0;0.989;0.981	P;D;P;P	0.72982	0.538;0.979;0.538;0.668	D	0.87183	0.2229	10	0.72032	D	0.01	-13.2269	18.8829	0.92364	0.0:1.0:0.0:0.0	.	171;171;171;171	P07202-4;P07202-5;P07202-2;P07202	.;.;.;PERT_HUMAN	M	171;171;171;171;171;171;171;171;100	ENSP00000337263:T171M;ENSP00000318820:T171M;ENSP00000263886:T171M;ENSP00000332044:T171M;ENSP00000329869:T171M;ENSP00000371636:T171M;ENSP00000390994:T171M;ENSP00000371633:T171M;ENSP00000405788:T100M	ENSP00000329869:T171M	T	+	2	0	TPO	1436502	0.963000	0.33076	1.000000	0.80357	0.260000	0.26232	2.135000	0.42112	2.438000	0.82558	0.557000	0.71058	ACG		0.587	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547	
TTN	7273	broad.mit.edu	37	2	179438088	179438088	+	Silent	SNP	A	A	G			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr2:179438088A>G	ENST00000591111.1	-	276	68072	c.67848T>C	c.(67846-67848)taT>taC	p.Y22616Y	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.Y15384Y|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Silent_p.Y24257Y|TTN_ENST00000342992.6_Silent_p.Y21689Y|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Silent_p.Y15317Y|TTN_ENST00000460472.2_Silent_p.Y15192Y|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22616	Fibronectin type-III 64. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTCCACAATATAATTGATGA	0.408																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(65065-65067)taT>taC		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							73.0	72.0	72.0					2																	179438088		1918	4136	6054	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179438088A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.67848T>C	2.37:g.179438088A>G						MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.Y15384Y|TTN_uc021vta.1_Silent_p.Y15317Y|TTN_uc021vtb.1_Silent_p.Y15192Y	p.Y21689Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		274	65292	-			22616			Fibronectin type-III 57.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.65067T>C																																																																																					0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
JAG1	182	broad.mit.edu	37	20	10630946	10630946	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr20:10630946C>T	ENST00000254958.5	-	9	1698	c.1183G>A	c.(1183-1185)Gga>Aga	p.G395R	JAG1_ENST00000423891.2_Missense_Mutation_p.G236R	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	395	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CACTTAAATCCGTTAACCAGG	0.463									Alagille Syndrome																													uc002wnw.2																			0				biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						c.(1183-1185)Gga>Aga		Homo sapiens jagged 1 (JAG1), mRNA.							57.0	53.0	54.0					20																	10630946		2203	4300	6503	SO:0001583	missense	182	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10630946C>T	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.1183G>A	20.37:g.10630946C>T	ENSP00000254958:p.Gly395Arg					JAG1_uc010gcd.1_5'UTR	p.G395R	NM_000214	NP_000205	P78504	JAG1_HUMAN			8	1699	-			395			EGF-like 5; calcium-binding (Potential).		A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Missense_Mutation	SNP	ENST00000254958.5	37	c.1183G>A	CCDS13112.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.903936	0.92035	.	.	ENSG00000101384	ENST00000254958;ENST00000423891	D;D	0.91631	-2.88;-2.88	5.85	5.85	0.93711	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.95306	0.8477	L	0.54965	1.715	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94748	0.7925	10	0.54805	T	0.06	.	20.1577	0.98120	0.0:1.0:0.0:0.0	.	395	P78504	JAG1_HUMAN	R	395;236	ENSP00000254958:G395R;ENSP00000389519:G236R	ENSP00000254958:G395R	G	-	1	0	JAG1	10578946	1.000000	0.71417	0.963000	0.40424	0.903000	0.53119	6.034000	0.70933	2.767000	0.95098	0.655000	0.94253	GGA		0.463	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214	
CEP250	11190	broad.mit.edu	37	20	34067060	34067060	+	Missense_Mutation	SNP	G	G	A	rs377363130		TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr20:34067060G>A	ENST00000397527.1	+	18	2819	c.2099G>A	c.(2098-2100)cGt>cAt	p.R700H	RP3-477O4.14_ENST00000453914.1_RNA|RP3-477O4.14_ENST00000444933.1_RNA|RP3-477O4.14_ENST00000416260.1_RNA|CEP250_ENST00000342580.4_Missense_Mutation_p.R700H	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	700	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CCTCAGTCACGTCACCAGCAG	0.592																																						uc021wco.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2098-2100)cGt>cAt		Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.		G	HIS/ARG	0,4406		0,0,2203	68.0	59.0	62.0		2099	-10.1	0.0	20		62	1,8599	1.2+/-3.3	0,1,4299	no	missense	CEP250	NM_007186.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	700/2443	34067060	1,13005	2203	4300	6503	SO:0001583	missense	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34067060G>A	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.2099G>A	20.37:g.34067060G>A	ENSP00000380661:p.Arg700His					CEP250_uc010zve.2_Missense_Mutation_p.R68H	p.R700H	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		17	2746	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		700			Gln/Glu-rich.		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	c.2099G>A	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	G	0.772	-0.765334	0.02996	0.0	1.16E-4	ENSG00000126001	ENST00000397527;ENST00000342580	T;T	0.10005	2.92;2.92	5.04	-10.1	0.00402	.	1.909510	0.01844	N	0.035473	T	0.04861	0.0131	N	0.12471	0.22	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22487	-1.0215	10	0.10111	T	0.7	.	9.4524	0.38734	0.6616:0.0727:0.1928:0.0729	.	700	Q9BV73	CP250_HUMAN	H	700	ENSP00000380661:R700H;ENSP00000341541:R700H	ENSP00000341541:R700H	R	+	2	0	CEP250	33530474	0.000000	0.05858	0.000000	0.03702	0.098000	0.18820	-1.006000	0.03671	-2.625000	0.00437	-1.170000	0.01741	CGT		0.592	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186	
USP41	373856	broad.mit.edu	37	22	20721910	20721910	+	Missense_Mutation	SNP	G	G	T			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr22:20721910G>T	ENST00000454608.2	-	9	650	c.651C>A	c.(649-651)ttC>ttA	p.F217L	USP41_ENST00000486536.2_5'UTR			Q3LFD5	UBP41_HUMAN	ubiquitin specific peptidase 41	217	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			endometrium(1)|kidney(1)|lung(2)|skin(1)	5						CCCTGGGCTGGAAGAAGCAGT	0.488																																						uc011ahq.1																			0				endometrium(1)|kidney(1)|lung(2)|skin(1)	5						c.(427-429)ttC>ttA		RecName: Full=Putative ubiquitin carboxyl-terminal hydrolase 41;          EC=3.4.19.12; AltName: Full=Deubiquitinating enzyme 41; AltName: Full=Ubiquitin thiolesterase 41; AltName: Full=Ubiquitin-specific-processing protease 41;																																				SO:0001583	missense	373856							g.chr22:20721910G>T	AJ586979		22q11.22	2011-01-31	2005-08-08		ENSG00000161133	ENSG00000161133		"""Ubiquitin-specific peptidases"""	20070	protein-coding gene	gene with protein product			"""ubiquitin specific protease 41"""			12838346	Standard	XM_006710116		Approved		uc011ahq.1	Q3LFD5	OTTHUMG00000151317	ENST00000454608.2:c.651C>A	22.37:g.20721910G>T	ENSP00000414922:p.Phe217Leu					USP41_uc011ahp.1_Missense_Mutation_p.F35L	p.F143L							4	495	-								A8MXD0|Q70BM7	Missense_Mutation	SNP	ENST00000454608.2	37	c.429C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	N|N	7.512|7.512	0.654972|0.654972	0.14580|0.14580	.|.	.|.	ENSG00000161133|ENSG00000161133	ENST00000454608|ENST00000292729	T|.	0.05580|.	3.42|.	0.305|0.305	-0.61|-0.61	0.11604|0.11604	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);|.	0.105670|.	0.64402|.	N|.	0.000003|.	T|T	0.39809|0.39809	0.1092|0.1092	L|L	0.46614|0.46614	1.455|1.455	.|.	.|.	.|.	P;B|.	0.34639|.	0.461;0.279|.	B;B|.	0.40636|.	0.335;0.095|.	T|T	0.43589|0.43589	-0.9382|-0.9382	8|3	0.44086|.	T|.	0.13|.	.|.	.|.	.|.	.|.	.|.	217;49|.	Q3LFD5;F5H844|.	UBP41_HUMAN;.|.	L|Y	217|165	ENSP00000414922:F217L|.	ENSP00000414922:F217L|.	F|S	-|-	3|2	2|0	USP41|USP41	19051910|19051910	1.000000|1.000000	0.71417|0.71417	0.383000|0.383000	0.26132|0.26132	0.373000|0.373000	0.29922|0.29922	0.650000|0.650000	0.24858|0.24858	-0.627000|-0.627000	0.05589|0.05589	-0.634000|-0.634000	0.03986|0.03986	TTC|TCC		0.488	USP41-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		XM_036729	
PANX2	56666	broad.mit.edu	37	22	50615939	50615939	+	Silent	SNP	C	C	T	rs35622534	byFrequency	TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr22:50615939C>T	ENST00000395842.2	+	2	798	c.798C>T	c.(796-798)gaC>gaT	p.D266D	PANX2_ENST00000159647.5_Silent_p.D266D	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	266					ion transport (GO:0006811)|protein hexamerization (GO:0034214)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CGTCCCCGGACGGGGCGGCAG	0.692																																						uc003bjn.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(796-798)gaC>gaT		Homo sapiens pannexin 2 (PANX2), transcript variant 1, mRNA.							17.0	18.0	18.0					22																	50615939		2178	4267	6445	SO:0001819	synonymous_variant	56666				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr22:50615939C>T		CCDS14085.2, CCDS54544.1	22q13.33	2011-12-05			ENSG00000073150	ENSG00000073150		"""Ion channels / Pannexins"""	8600	protein-coding gene	gene with protein product		608421				14702039, 14597722	Standard	NM_052839		Approved	hPANX2, PX2	uc003bjn.4	Q96RD6	OTTHUMG00000044649	ENST00000395842.2:c.798C>T	22.37:g.50615939C>T						PANX2_uc003bjp.4_Silent_p.D132D|PANX2_uc003bjo.4_Silent_p.D266D	p.D266D	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN		LUAD - Lung adenocarcinoma(64;0.105)	1	798	+		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)	266					B7Z684|Q96RD5|Q9UGX8	Silent	SNP	ENST00000395842.2	37	c.798C>T	CCDS14085.2																																																																																				0.692	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075010.3	NM_052839	
CELSR3	1951	broad.mit.edu	37	3	48694272	48694272	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr3:48694272G>A	ENST00000164024.4	-	2	4538	c.4258C>T	c.(4258-4260)Cgc>Tgc	p.R1420C	CELSR3_ENST00000544264.1_Missense_Mutation_p.R1420C	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1420	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CAGCGGCAGCGCAGGCCAGCG	0.672																																						uc003cuf.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(4468-4470)Cgc>Tgc		Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.							30.0	26.0	27.0					3																	48694272		2198	4297	6495	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48694272G>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.4258C>T	3.37:g.48694272G>A	ENSP00000164024:p.Arg1420Cys					CELSR3_uc003cul.3_Missense_Mutation_p.R1420C	p.R1490C	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	3	4468	-			1420			EGF-like 3; calcium-binding.		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.4468C>T	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.389596	0.82902	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	D;D	0.91686	-2.89;-2.89	4.9	4.02	0.46733	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.95322	0.8482	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.83275	0.996;0.828	D	0.95170	0.8289	9	0.62326	D	0.03	.	11.738	0.51775	0.0:0.1331:0.7287:0.1382	.	1420;1490	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	C	1420	ENSP00000164024:R1420C;ENSP00000445694:R1420C	ENSP00000164024:R1420C	R	-	1	0	CELSR3	48669276	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	6.528000	0.73807	1.282000	0.44496	-0.326000	0.08463	CGC		0.672	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407	
LRRC66	339977	broad.mit.edu	37	4	52862310	52862310	+	Missense_Mutation	SNP	C	C	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr4:52862310C>A	ENST00000343457.3	-	4	884	c.878G>T	c.(877-879)gGc>gTc	p.G293V		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	293						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CTGGGGAGTGCCCCCGTTGGC	0.483																																						uc003gzi.3																			0				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						c.(877-879)gGc>gTc		Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA.							42.0	39.0	40.0					4																	52862310		1832	4089	5921	SO:0001583	missense	339977					integral to membrane		g.chr4:52862310C>A	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.878G>T	4.37:g.52862310C>A	ENSP00000341944:p.Gly293Val						p.G293V	NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN			3	885	-			293						Missense_Mutation	SNP	ENST00000343457.3	37	c.878G>T	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	C	8.526	0.869780	0.17322	.	.	ENSG00000188993	ENST00000343457	T	0.25912	1.77	4.41	2.37	0.29283	.	0.330632	0.22050	N	0.065328	T	0.10680	0.0261	N	0.14661	0.345	0.09310	N	0.999998	B	0.14012	0.009	B	0.09377	0.004	T	0.27739	-1.0065	10	0.15066	T	0.55	-1.4063	3.0007	0.06012	0.2608:0.5528:0.0:0.1864	.	293	Q68CR7	LRC66_HUMAN	V	293	ENSP00000341944:G293V	ENSP00000341944:G293V	G	-	2	0	LRRC66	52557067	0.524000	0.26282	0.001000	0.08648	0.000000	0.00434	0.781000	0.26774	0.388000	0.25054	-0.282000	0.10007	GGC		0.483	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611	
FRAS1	80144	broad.mit.edu	37	4	79421050	79421050	+	Silent	SNP	G	G	A	rs376458338		TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr4:79421050G>A	ENST00000264895.6	+	61	9731	c.9291G>A	c.(9289-9291)aaG>aaA	p.K3097K		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3093	Calx-beta 5.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATTACCCAAAGAGCCGAGTCT	0.483																																						uc003hlb.2																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(9289-9291)aaG>aaA		Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.		G		0,3838		0,0,1919	124.0	119.0	120.0		9291	3.3	1.0	4		120	4,8298		0,4,4147	no	coding-synonymous	FRAS1	NM_025074.6		0,4,6066	AA,AG,GG		0.0482,0.0,0.0329		3097/4013	79421050	4,12136	1919	4151	6070	SO:0001819	synonymous_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79421050G>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.9291G>A	4.37:g.79421050G>A						FRAS1_uc003hlc.1_Silent_p.K99K	p.K3097K	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			60	9731	+			3092			Calx-beta 5.		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000264895.6	37	c.9291G>A	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	G	6.933	0.541815	0.13250	0.0	4.82E-4	ENSG00000138759	ENST00000512123	.	.	.	5.91	3.29	0.37713	.	.	.	.	.	T	0.60907	0.2305	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55095	-0.8194	4	.	.	.	.	10.3652	0.44019	0.2291:0.0:0.7709:0.0	.	.	.	.	K	1326	.	.	E	+	1	0	FRAS1	79640074	1.000000	0.71417	0.994000	0.49952	0.661000	0.39034	2.724000	0.47285	0.423000	0.26033	0.655000	0.94253	GAG		0.483	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
PRKG2	5593	broad.mit.edu	37	4	82126062	82126062	+	Missense_Mutation	SNP	C	C	T	rs199612321		TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr4:82126062C>T	ENST00000395578.1	-	2	256	c.140G>A	c.(139-141)cGg>cAg	p.R47Q	PRKG2_ENST00000264399.1_Missense_Mutation_p.R47Q|PRKG2_ENST00000418486.2_Missense_Mutation_p.R47Q			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	47					blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						ATGGTACTCCCGCTCCTGGAT	0.557																																						uc003hmh.2																			0				NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						c.(139-141)cGg>cAg		Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.		C	GLN/ARG	0,4406	2.1+/-5.4	0,0,2203	118.0	114.0	116.0		140	4.9	1.0	4		116	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PRKG2	NM_006259.1	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	47/763	82126062	1,13005	2203	4300	6503	SO:0001583	missense	5593				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr4:82126062C>T	X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.140G>A	4.37:g.82126062C>T	ENSP00000378945:p.Arg47Gln					PRKG2_uc011cch.1_Missense_Mutation_p.R47Q	p.R47Q	NM_006259	NP_006250	Q13237	KGP2_HUMAN			0	153	-			47					B4DMX3|E7EPE6|O00125|O60916	Missense_Mutation	SNP	ENST00000395578.1	37	c.140G>A	CCDS3589.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.908008	0.33721	0.0	1.16E-4	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486	D;D;D	0.82711	-1.64;-1.64;-1.64	4.87	4.87	0.63330	.	0.207885	0.42420	D	0.000716	T	0.63070	0.2480	N	0.03608	-0.345	0.80722	D	1	B;B	0.19073	0.005;0.033	B;B	0.11329	0.004;0.006	T	0.60177	-0.7314	10	0.25751	T	0.34	-17.1339	11.3238	0.49438	0.0:0.9163:0.0:0.0837	.	47;47	E7EPE6;Q13237	.;KGP2_HUMAN	Q	47	ENSP00000378945:R47Q;ENSP00000264399:R47Q;ENSP00000389038:R47Q	ENSP00000264399:R47Q	R	-	2	0	PRKG2	82345086	0.999000	0.42202	1.000000	0.80357	0.690000	0.40134	2.555000	0.45854	2.547000	0.85894	0.585000	0.79938	CGG		0.557	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1	NM_006259	
RXFP1	59350	broad.mit.edu	37	4	159533468	159533468	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr4:159533468C>T	ENST00000307765.5	+	8	885	c.634C>T	c.(634-636)Cga>Tga	p.R212*	RXFP1_ENST00000470033.1_Nonsense_Mutation_p.R179*|RXFP1_ENST00000448688.2_Nonsense_Mutation_p.R131*|RXFP1_ENST00000343542.5_Nonsense_Mutation_p.R212*|RXFP1_ENST00000460056.2_Nonsense_Mutation_p.R131*	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	212					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		TCACCTCAGTCGAATTTCCCC	0.294																																						uc003ipz.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49						c.(634-636)Cga>Tga		Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.							87.0	78.0	81.0					4																	159533468		1794	4065	5859	SO:0001587	stop_gained	59350					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr4:159533468C>T	AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"""GPCR / Class A : Relaxin family peptide receptors"""	19718	protein-coding gene	gene with protein product		606654	"""leucine-rich repeat-containing G protein-coupled receptor 7"""	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.634C>T	4.37:g.159533468C>T	ENSP00000303248:p.Arg212*					RXFP1_uc010iqj.2_Nonsense_Mutation_p.R41*|RXFP1_uc010iqk.3_Nonsense_Mutation_p.R80*|RXFP1_uc011cja.2_Nonsense_Mutation_p.R131*|RXFP1_uc010iqo.3_Nonsense_Mutation_p.R212*|RXFP1_uc011cjb.2_Nonsense_Mutation_p.R158*|RXFP1_uc011cjc.2_Nonsense_Mutation_p.R131*|RXFP1_uc011cjd.2_Nonsense_Mutation_p.R131*|RXFP1_uc010iql.3_Nonsense_Mutation_p.R80*|RXFP1_uc011cje.2_Nonsense_Mutation_p.R239*|RXFP1_uc010iqm.3_Nonsense_Mutation_p.R179*|RXFP1_uc011cjf.2_Nonsense_Mutation_p.R82*|RXFP1_uc010iqn.3_Nonsense_Mutation_p.R158*	p.R212*	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN		COAD - Colon adenocarcinoma(41;0.0219)	7	897	+	all_hematologic(180;0.24)	Renal(120;0.0854)	212					B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Nonsense_Mutation	SNP	ENST00000307765.5	37	c.634C>T	CCDS43276.1	.	.	.	.	.	.	.	.	.	.	C	45	11.948519	0.99620	.	.	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000448688;ENST00000343542;ENST00000470033;ENST00000440678	.	.	.	5.27	3.39	0.38822	.	0.388659	0.29198	N	0.012848	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	5.9521	0.19253	0.1418:0.6411:0.1377:0.0794	.	.	.	.	X	131;212;131;212;179;82	.	ENSP00000303248:R212X	R	+	1	2	RXFP1	159752918	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	1.331000	0.33793	1.313000	0.45069	0.655000	0.94253	CGA		0.294	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	NM_021634	
SLC6A18	348932	broad.mit.edu	37	5	1244838	1244838	+	Silent	SNP	C	C	T			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr5:1244838C>T	ENST00000324642.3	+	11	1735	c.1612C>T	c.(1612-1614)Ctg>Ttg	p.L538L		NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	538					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CATCATCCTCCTGTTCTGGAA	0.617																																						uc003jby.2																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34						c.(1612-1614)Ctg>Ttg		Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.							76.0	73.0	74.0					5																	1244838		2203	4300	6503	SO:0001819	synonymous_variant	348932				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1244838C>T	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"""Solute carriers"""	26441	protein-coding gene	gene with protein product		610300	"""solute carrier family 6 (neurotransmitter transporter), member 18"", ""solute carrier family 6, member 18"""			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.1612C>T	5.37:g.1244838C>T							p.L538L	NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		10	1735	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		538						Silent	SNP	ENST00000324642.3	37	c.1612C>T	CCDS3860.1																																																																																				0.617	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632	
NSUN2	54888	broad.mit.edu	37	5	6622137	6622137	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr5:6622137G>A	ENST00000264670.6	-	6	925	c.614C>T	c.(613-615)cCc>cTc	p.P205L	NSUN2_ENST00000506139.1_Missense_Mutation_p.P170L|NSUN2_ENST00000539938.1_Intron|NSUN2_ENST00000505264.1_Intron	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	205					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						ACCTGGAAAGGGGACATTCAT	0.413																																						uc003jdu.3																			0		p.V204A(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						c.(613-615)cCc>cTc		Homo sapiens NOP2/Sun domain family, member 2 (NSUN2), transcript variant 1, mRNA.							180.0	150.0	160.0					5																	6622137		2203	4300	6503	SO:0001583	missense	54888					cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding	g.chr5:6622137G>A	AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"""NOP2/Sun domain containing"""	25994	protein-coding gene	gene with protein product	"""tRNA methyltransferase 4 homolog (S. cerevisiae)"", ""Myc-induced SUN-domain-containing protein"""	610916	"""NOL1/NOP2/Sun domain family, member 2"", ""NOP2/Sun domain family, member 2"", ""mental retardation, non-syndromic, autosomal recessive, 5"""	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.614C>T	5.37:g.6622137G>A	ENSP00000264670:p.Pro205Leu					NSUN2_uc003jdt.3_5'Flank|NSUN2_uc011cmk.2_Missense_Mutation_p.P170L|NSUN2_uc003jdv.3_Intron	p.P205L	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN			5	995	-			205					A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Missense_Mutation	SNP	ENST00000264670.6	37	c.614C>T	CCDS3869.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265794	0.80358	.	.	ENSG00000037474	ENST00000264670;ENST00000506139	T;T	0.37752	1.18;1.2	5.48	5.48	0.80851	.	0.049095	0.85682	D	0.000000	T	0.34019	0.0883	N	0.20845	0.615	0.80722	D	1	P;B	0.45044	0.849;0.056	P;B	0.47299	0.543;0.071	T	0.03175	-1.1064	10	0.25106	T	0.35	-13.0951	19.3709	0.94484	0.0:0.0:1.0:0.0	.	170;205	B4DQW2;Q08J23	.;NSUN2_HUMAN	L	205;170	ENSP00000264670:P205L;ENSP00000420957:P170L	ENSP00000264670:P205L	P	-	2	0	NSUN2	6675137	1.000000	0.71417	0.702000	0.30337	0.974000	0.67602	9.198000	0.94994	2.576000	0.86940	0.655000	0.94253	CCC		0.413	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	NM_017755	
UTP15	84135	broad.mit.edu	37	5	72866479	72866480	+	Nonsense_Mutation	DNP	GG	GG	TA			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr5:72866479_72866480GG>TA	ENST00000296792.4	+	6	871_872	c.616_617GG>TA	c.(616-618)GGg>TAg	p.G206*	UTP15_ENST00000508491.1_Nonsense_Mutation_p.G187*|UTP15_ENST00000543251.1_Nonsense_Mutation_p.G16*	NM_001284431.1|NM_032175.2	NP_001271360.1|NP_115551.2	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)	206					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		CGTTGAGCATGGGCAGCCAGTG	0.401																																						uc003kcw.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15						c.(616-618)ggg>TAg		Homo sapiens UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae) (UTP15), mRNA.																																				SO:0001587	stop_gained	84135				rRNA processing	cytoplasm|nucleolus		g.chr5:72866479_72866480GG>TA	AL831972	CCDS34186.1, CCDS68893.1, CCDS68894.1	5q13.2	2013-01-10	2006-04-20		ENSG00000164338	ENSG00000164338		"""WD repeat domain containing"""	25758	protein-coding gene	gene with protein product			"""UTP15, U3 small nucleolar ribonucleoprotein, homolog (yeast)"""			12477932	Standard	NM_032175		Approved	FLJ12787, NET21, FLJ23637	uc003kcw.1	Q8TED0	OTTHUMG00000162453	Exception_encountered	5.37:g.72866479_72866480delinsTA	ENSP00000296792:p.Gly206*					UTP15_uc011cso.1_Nonsense_Mutation_p.G187*|UTP15_uc011csp.1_Nonsense_Mutation_p.G16*|UTP15_uc010ize.1_Nonsense_Mutation_p.G206*	p.G206*	NM_032175	NP_115551	Q8TED0	UTP15_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)	5	839_840	+		Lung NSC(167;0.00405)|Ovarian(174;0.0129)	206					B4DU75|B4DXK8|Q6IA60|Q96E08|Q9H9F8	Nonsense_Mutation	DNP	ENST00000296792.4	37	c.616_617GG>TA	CCDS34186.1																																																																																				0.401	UTP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368965.1	NM_032175	
CMYA5	202333	broad.mit.edu	37	5	79026182	79026182	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr5:79026182G>A	ENST00000446378.2	+	2	1625	c.1594G>A	c.(1594-1596)Gta>Ata	p.V532I		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	532	Glu-rich.				negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGAAGAGATCGTAGAACTTGA	0.418																																						uc003kgc.3																			0		p.I531I(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(1594-1596)Gta>Ata		Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.							110.0	105.0	107.0					5																	79026182		1859	4097	5956	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79026182G>A	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.1594G>A	5.37:g.79026182G>A	ENSP00000394770:p.Val532Ile						p.V532I	NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	1	1666	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	532			Glu-rich.		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.1594G>A	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	A	1.370	-0.586307	0.03827	.	.	ENSG00000164309	ENST00000446378	T	0.25749	1.78	5.8	3.39	0.38822	.	0.000000	0.52532	N	0.000068	T	0.06645	0.0170	N	0.00926	-1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41893	-0.9483	10	0.02654	T	1	.	8.618	0.33845	0.7147:0.0:0.2853:0.0	.	532	Q8N3K9	CMYA5_HUMAN	I	532	ENSP00000394770:V532I	ENSP00000394770:V532I	V	+	1	0	CMYA5	79061938	0.187000	0.23238	0.938000	0.37757	0.590000	0.36582	1.513000	0.35823	0.125000	0.18397	-0.360000	0.07572	GTA		0.418	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610	
PCDHGA1	56114	broad.mit.edu	37	5	140712004	140712004	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr5:140712004G>A	ENST00000517417.1	+	1	1753	c.1753G>A	c.(1753-1755)Ggc>Agc	p.G585S	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.G585S	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	585	Cadherin 6. {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(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGAGCCCGGCTACCTGGT	0.677																																						uc003lji.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1753-1755)Ggc>Agc		Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.							54.0	65.0	61.0					5																	140712004		2202	4299	6501	SO:0001583	missense	56114				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140712004G>A	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.1753G>A	5.37:g.140712004G>A	ENSP00000431083:p.Gly585Ser					PCDHGC5_uc011dan.2_Missense_Mutation_p.G585S	p.G585S	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1753	+			586			Cadherin 6.		Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	c.1753G>A	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305958	0.60305	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.68025	-0.3;-0.3	4.05	3.17	0.36434	Cadherin (3);Cadherin-like (1);	0.000000	0.49916	D	0.000127	D	0.84388	0.5461	M	0.94063	3.49	0.30846	N	0.735108	D;D	0.89917	0.996;1.0	D;D	0.74348	0.95;0.983	D	0.85146	0.0983	10	0.72032	D	0.01	.	12.2822	0.54771	0.0:0.0:0.8286:0.1714	.	585;585	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	S	585	ENSP00000431083:G585S;ENSP00000367345:G585S	ENSP00000367345:G585S	G	+	1	0	PCDHGA1	140692188	1.000000	0.71417	0.404000	0.26397	0.470000	0.32858	4.561000	0.60809	1.036000	0.39998	0.650000	0.86243	GGC		0.677	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912	
BTN1A1	696	broad.mit.edu	37	6	26508920	26508920	+	Silent	SNP	A	A	C			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr6:26508920A>C	ENST00000244513.6	+	7	1165	c.1099A>C	c.(1099-1101)Agg>Cgg	p.R367R		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	367	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						GGTGGGAGACAGGACTGACTG	0.532																																						uc003nif.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						c.(1099-1101)Agg>Cgg		Homo sapiens butyrophilin, subfamily 1, member A1 (BTN1A1), mRNA.							160.0	143.0	148.0					6																	26508920		2203	4300	6503	SO:0001819	synonymous_variant	696					extracellular region|integral to plasma membrane	receptor activity	g.chr6:26508920A>C	U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.1099A>C	6.37:g.26508920A>C							p.R367R	NM_001732	NP_001723	Q13410	BT1A1_HUMAN			6	1156	+			367			B30.2/SPRY.		Q4VAN3|Q4VAN4|Q9H458	Silent	SNP	ENST00000244513.6	37	c.1099A>C	CCDS4614.1																																																																																				0.532	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043776.1	NM_001732	
KCTD20	222658	broad.mit.edu	37	6	36437942	36437942	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr6:36437942A>G	ENST00000373731.2	+	2	459	c.68A>G	c.(67-69)gAt>gGt	p.D23G	KCTD20_ENST00000449081.2_Missense_Mutation_p.D23G|KCTD20_ENST00000474988.1_Intron|KCTD20_ENST00000544295.1_5'UTR|KCTD20_ENST00000536244.1_5'UTR	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	23					protein homooligomerization (GO:0051260)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						TTAGTGGATGATACTTTAGCT	0.473																																						uc003ome.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						c.(67-69)gAt>gGt		Homo sapiens potassium channel tetramerisation domain containing 20 (KCTD20), mRNA.							121.0	115.0	117.0					6																	36437942		2203	4300	6503	SO:0001583	missense	222658					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr6:36437942A>G	BC023525	CCDS4821.1, CCDS69096.1, CCDS69097.1	6p21.31	2013-06-20	2013-06-20	2006-06-26	ENSG00000112078	ENSG00000112078			21052	protein-coding gene	gene with protein product		615932	"""chromosome 6 open reading frame 69"", ""potassium channel tetramerisation domain containing 20"""	C6orf69			Standard	NM_001286580		Approved	dJ108K11.3, MGC14254	uc003ome.3	Q7Z5Y7	OTTHUMG00000014597	ENST00000373731.2:c.68A>G	6.37:g.36437942A>G	ENSP00000362836:p.Asp23Gly					KCTD20_uc011dtn.2_5'UTR|KCTD20_uc010jwk.3_Missense_Mutation_p.D23G|KCTD20_uc011dto.2_Intron|KCTD20_uc011dtm.2_5'UTR	p.D23G	NM_173562	NP_775833	Q7Z5Y7	KCD20_HUMAN			1	459	+			23					B4DZD3|B4E2Q3|F5H3T3|Q5W105|Q69YQ7|Q8IZ55	Missense_Mutation	SNP	ENST00000373731.2	37	c.68A>G	CCDS4821.1	.	.	.	.	.	.	.	.	.	.	A	12.04	1.818660	0.32145	.	.	ENSG00000112078	ENST00000373731;ENST00000483557;ENST00000498267;ENST00000449081;ENST00000460983	T	0.45276	0.9	5.43	4.27	0.50696	.	0.455607	0.20765	N	0.086087	T	0.11623	0.0283	N	0.14661	0.345	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.05131	-1.0904	10	0.41790	T	0.15	-6.8682	8.8473	0.35179	0.914:0.0:0.086:0.0	.	23;23	Q7Z5Y7-2;Q7Z5Y7	.;KCD20_HUMAN	G	23	ENSP00000362836:D23G	ENSP00000265344:D23G	D	+	2	0	KCTD20	36545920	0.983000	0.35010	0.698000	0.30274	0.803000	0.45373	2.779000	0.47734	0.899000	0.36444	0.533000	0.62120	GAT		0.473	KCTD20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040345.2	NM_173562	
TFAP2D	83741	broad.mit.edu	37	6	50740520	50740520	+	Silent	SNP	C	C	T			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr6:50740520C>T	ENST00000008391.3	+	8	1530	c.1302C>T	c.(1300-1302)ccC>ccT	p.P434P		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					AGAAAGCTCCCCTGCGGAAAA	0.483																																						uc003paf.3																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60						c.(1300-1302)ccC>ccT		Homo sapiens transcription factor AP-2 delta (activating enhancer binding protein 2 delta) (TFAP2D), mRNA.							54.0	51.0	52.0					6																	50740520		2203	4300	6503	SO:0001819	synonymous_variant	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50740520C>T	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"""	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.1302C>T	6.37:g.50740520C>T						TFAP2D_uc011dwt.2_Non-coding_Transcript	p.P434P	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN			7	1814	+	Lung NSC(77;0.0334)		434						Silent	SNP	ENST00000008391.3	37	c.1302C>T	CCDS4933.1																																																																																				0.483	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238	
IBTK	25998	broad.mit.edu	37	6	82924063	82924066	+	Frame_Shift_Del	DEL	ACTA	ACTA	-			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr6:82924063_82924066delACTA	ENST00000306270.7	-	12	2631_2634	c.2082_2085delTAGT	c.(2080-2085)gttagtfs	p.VS694fs	IBTK_ENST00000510291.1_Frame_Shift_Del_p.VS694fs|IBTK_ENST00000503631.1_Intron	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	694					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TCTGCCTCTCACTAACTGTTTGAG	0.338																																						uc003pjl.1																			0				central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						c.(2080-2085)gttagtfs		Homo sapiens inhibitor of Bruton agammaglobulinemia tyrosine kinase (IBTK), mRNA.																																				SO:0001589	frameshift_variant	25998				negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity	g.chr6:82924063_82924066delACTA	AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	17853	protein-coding gene	gene with protein product		606457	"""Bruton agammaglobulinemia tyrosine kinase inhibitor"""	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.2082_2085delTAGT	6.37:g.82924063_82924066delACTA	ENSP00000305721:p.Val694fs					IBTK_uc011dyv.1_Frame_Shift_Del_p.V694fs|IBTK_uc011dyw.1_Intron|IBTK_uc010kbi.1_Frame_Shift_Del_p.V388fs|IBTK_uc003pjm.2_Frame_Shift_Del_p.V694fs	p.V694fs	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0901)	11	2609_2612	-		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)	694					Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Frame_Shift_Del	DEL	ENST00000306270.7	37	c.2082_2085delTAGT	CCDS34490.1																																																																																				0.338	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2	NM_015525	
HDAC9	9734	broad.mit.edu	37	7	18624954	18624954	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr7:18624954G>A	ENST00000432645.2	+	2	73	c.73G>A	c.(73-75)Gac>Aac	p.D25N	HDAC9_ENST00000401921.1_Missense_Mutation_p.D25N|HDAC9_ENST00000524023.1_5'UTR|HDAC9_ENST00000406451.4_Missense_Mutation_p.D25N|HDAC9_ENST00000417496.2_Missense_Mutation_p.D67N|HDAC9_ENST00000405010.3_Missense_Mutation_p.D25N|HDAC9_ENST00000476135.1_3'UTR|HDAC9_ENST00000406072.1_Missense_Mutation_p.D53N|HDAC9_ENST00000428307.2_Missense_Mutation_p.D25N|HDAC9_ENST00000456174.2_5'UTR|HDAC9_ENST00000441542.2_Missense_Mutation_p.D25N	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	25	Interaction with CTBP1. {ECO:0000250}.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CTCACCTTTAGACCTAAGGAC	0.498																																						uc003sui.3																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82						c.(73-75)Gac>Aac		Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	Valproic Acid(DB00313)						137.0	137.0	137.0					7																	18624954		1943	4167	6110	SO:0001583	missense	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18624954G>A	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.73G>A	7.37:g.18624954G>A	ENSP00000410337:p.Asp25Asn					HDAC9_uc003sue.3_Missense_Mutation_p.D25N|HDAC9_uc011jyd.2_Missense_Mutation_p.D25N|HDAC9_uc003suh.3_Missense_Mutation_p.D25N|HDAC9_uc003suj.3_Missense_Mutation_p.D25N|HDAC9_uc011jya.2_Missense_Mutation_p.D67N|HDAC9_uc003sua.1_Missense_Mutation_p.D44N|HDAC9_uc003sud.2_Missense_Mutation_p.D25N|HDAC9_uc011jyc.2_Missense_Mutation_p.D25N|HDAC9_uc011jyb.2_Missense_Mutation_p.D25N|HDAC9_uc003suf.2_Missense_Mutation_p.D53N|HDAC9_uc010kud.2_Missense_Mutation_p.D25N|HDAC9_uc011jye.2_5'UTR|HDAC9_uc011jyf.2_5'UTR	p.D25N	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN			1	114	+	all_lung(11;0.187)		25			Interaction with CTBP1 (By similarity).		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	c.73G>A	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	G	37	6.003066	0.97189	.	.	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000413509;ENST00000413380;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	T;T;T;T;T;T;T;T;T;T	0.68903	0.22;0.25;0.23;0.14;-0.23;0.11;0.25;-0.36;-0.22;-0.21	5.93	5.93	0.95920	.	0.190849	0.36665	N	0.002479	T	0.81983	0.4938	M	0.66939	2.045	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.993;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.87578	0.998;0.998;0.994;0.984;0.998;0.998;0.996;0.998;0.998;0.996	T	0.81636	-0.0843	10	0.62326	D	0.03	1.8438	20.3368	0.98748	0.0:0.0:1.0:0.0	.	25;53;67;25;25;25;25;25;25;44	Q9UKV0-4;B5MCF1;B7Z917;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;HDAC9_HUMAN;.;.;.	N	67;70;25;25;25;25;25;53;25;25;25;25	ENSP00000401669:D67N;ENSP00000412497:D25N;ENSP00000392564:D25N;ENSP00000384382:D25N;ENSP00000384657:D25N;ENSP00000395655:D25N;ENSP00000384017:D53N;ENSP00000383912:D25N;ENSP00000410337:D25N;ENSP00000408617:D25N	ENSP00000262069:D70N	D	+	1	0	HDAC9	18591479	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.805000	0.96524	0.655000	0.94253	GAC		0.498	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1		
BMPER	168667	broad.mit.edu	37	7	34118619	34118619	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr7:34118619G>A	ENST00000297161.2	+	13	1603	c.1229G>A	c.(1228-1230)cGc>cAc	p.R410H	BMPER_ENST00000426693.1_Missense_Mutation_p.R410H	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	410	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						AACGACGCCCGCCGGACACGC	0.622																																						uc011kap.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1228-1230)cGc>cAc		Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.							89.0	94.0	93.0					7																	34118619		2203	4300	6503	SO:0001583	missense	168667				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		g.chr7:34118619G>A		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.1229G>A	7.37:g.34118619G>A	ENSP00000297161:p.Arg410His						p.R410H	NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN			12	1603	+			410			VWFD.		A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	37	c.1229G>A	CCDS5442.1	.	.	.	.	.	.	.	.	.	.	G	36	5.657531	0.96734	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.59772	0.24;0.24	5.87	5.87	0.94306	von Willebrand factor, type D domain (3);	0.000000	0.85682	D	0.000000	T	0.78246	0.4253	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.74999	-0.3472	10	0.33940	T	0.23	.	20.2079	0.98282	0.0:0.0:1.0:0.0	.	410	Q8N8U9	BMPER_HUMAN	H	410	ENSP00000297161:R410H;ENSP00000393950:R410H	ENSP00000297161:R410H	R	+	2	0	BMPER	34085144	1.000000	0.71417	0.933000	0.37362	0.996000	0.88848	9.476000	0.97823	2.781000	0.95711	0.655000	0.94253	CGC		0.622	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468	
EGFR	1956	broad.mit.edu	37	7	55220274	55220274	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr7:55220274C>T	ENST00000275493.2	+	6	841	c.664C>T	c.(664-666)Cgc>Tgc	p.R222C	EGFR_ENST00000344576.2_Missense_Mutation_p.R222C|EGFR_ENST00000454757.2_Missense_Mutation_p.R169C|EGFR_ENST00000455089.1_Missense_Mutation_p.R177C|EGFR_ENST00000342916.3_Missense_Mutation_p.R222C|EGFR_ENST00000442591.1_Missense_Mutation_p.R222C|EGFR_ENST00000420316.2_Missense_Mutation_p.R222C	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	222			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.R222C(4)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GTGCTCCGGGCGCTGCCGTGG	0.597		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		4	Substitution - Missense(4)	p.R222C(7)|p.V30_R297>G(5)	large_intestine(2)|central_nervous_system(2)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(664-666)Cgc>Tgc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						91.0	104.0	100.0					7																	55220274		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55220274C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.664C>T	7.37:g.55220274C>T	ENSP00000275493:p.Arg222Cys	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.R222C|EGFR_uc003tqi.3_Missense_Mutation_p.R222C|EGFR_uc003tqj.3_Missense_Mutation_p.R222C|EGFR_uc022adm.1_Missense_Mutation_p.R222C|EGFR_uc010kzg.2_Missense_Mutation_p.R177C|EGFR_uc022adn.1_Missense_Mutation_p.R177C|EGFR_uc011kco.2_Missense_Mutation_p.R169C|EGFR_uc003tql.1_Non-coding_Transcript	p.R222C	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		5	910	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		222					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.664C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168333	0.78339	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05	5.3	5.3	0.74995	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.84215	0.5423	M	0.92604	3.325	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0	D	0.88214	0.2892	10	0.87932	D	0	.	17.5084	0.87753	0.0:1.0:0.0:0.0	.	177;222;222;222;222	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	C	177;222;92;222;222;222;222;169;16	ENSP00000415559:R177C;ENSP00000342376:R222C;ENSP00000345973:R222C;ENSP00000413843:R222C;ENSP00000275493:R222C;ENSP00000410031:R222C;ENSP00000395243:R169C	ENSP00000275493:R222C	R	+	1	0	EGFR	55187768	1.000000	0.71417	0.977000	0.42913	0.973000	0.67179	4.487000	0.60293	2.448000	0.82819	0.655000	0.94253	CGC		0.597	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
NSUN5	55695	broad.mit.edu	37	7	72722785	72722785	+	Start_Codon_SNP	SNP	C	C	T			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr7:72722785C>T	ENST00000252594.6	-	1	18	c.3G>A	c.(1-3)atG>atA	p.M1I	NSUN5_ENST00000310326.8_Start_Codon_SNP_p.M1I|NSUN5_ENST00000438747.2_Start_Codon_SNP_p.M1I|NSUN5_ENST00000428206.1_Start_Codon_SNP_p.M1I			Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	1					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				CATACAGCCCCATGTTCCCGC	0.657																																						uc003txw.3																			0				breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(1-3)atG>atA		Homo sapiens NOP2/Sun domain family, member 5 (NSUN5), transcript variant 2, mRNA.							32.0	34.0	34.0					7																	72722785		2202	4299	6501	SO:0001582	initiator_codon_variant	55695						methyltransferase activity	g.chr7:72722785C>T	AF420249	CCDS5546.1, CCDS5547.1, CCDS55118.1, CCDS55119.1	7q11.23	2010-04-08	2009-11-23	2005-01-14	ENSG00000130305	ENSG00000130305		"""NOP2/Sun domain containing"""	16385	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 5A"""	615732	"""Williams Beuren syndrome chromosome region 20A"", ""NOL1/NOP2/Sun domain family, member 5"""	WBSCR20, WBSCR20A		11978965, 12073013	Standard	NM_148956		Approved	NOL1R, p120, (NOL1), FLJ10267, NSUN5A, Ynl022cL	uc011kev.2	Q96P11	OTTHUMG00000129869	ENST00000252594.6:c.3G>A	7.37:g.72722785C>T	ENSP00000252594:p.Met1Ile					FKBP6_uc003twz.2_Intron|NSUN5_uc011kev.2_Missense_Mutation_p.M1I|NSUN5_uc003txv.3_Missense_Mutation_p.M1I|NSUN5_uc003txx.3_Missense_Mutation_p.M1I	p.M1I	NM_018044	NP_060514	Q96P11	NSUN5_HUMAN			0	80	-		Lung NSC(55;0.163)	1					B3KX04|B4DP79|G3V0G9|Q6ZUI8|Q96HT9|Q9NW70	Missense_Mutation	SNP	ENST00000252594.6	37	c.3G>A	CCDS5547.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.526746	0.44969	.	.	ENSG00000130305	ENST00000428206;ENST00000252594;ENST00000438747;ENST00000310326	T;T;T;T	0.20200	2.16;2.09;2.23;2.22	4.13	4.13	0.48395	.	0.000000	0.85682	D	0.000000	T	0.37128	0.0992	.	.	.	0.80722	D	1	D;D;D;D	0.58268	0.982;0.978;0.963;0.978	P;P;P;P	0.53861	0.628;0.736;0.549;0.736	T	0.37407	-0.9707	9	0.87932	D	0	.	15.601	0.76626	0.0:1.0:0.0:0.0	.	1;1;1;1	B4DP79;G3V0G9;Q96P11;Q96P11-2	.;.;NSUN5_HUMAN;.	I	1	ENSP00000393081:M1I;ENSP00000252594:M1I;ENSP00000388464:M1I;ENSP00000309126:M1I	ENSP00000252594:M1I	M	-	3	0	NSUN5	72360721	1.000000	0.71417	0.508000	0.27688	0.007000	0.05969	2.927000	0.48900	2.130000	0.65690	0.485000	0.47835	ATG		0.657	NSUN5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252113.1	NM_148956	Missense_Mutation
OR2A5	393046	broad.mit.edu	37	7	143748358	143748359	+	Frame_Shift_Ins	INS	-	-	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr7:143748358_143748359insA	ENST00000408906.2	+	1	898_899	c.864_865insA	c.(865-867)atcfs	p.I289fs		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	289						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TGAACCCCTTGATCTATAGCCT	0.525																																						uc011ktw.2																			0				cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38						c.(862-867)ttgatcfs		Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.																																				SO:0001589	frameshift_variant	393046				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143748358_143748359insA	U86278	CCDS43668.1	7q35	2013-09-20	2003-11-24		ENSG00000221836	ENSG00000221836		"""GPCR / Class A : Olfactory receptors"""	8232	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 5"""	OR2A8, OR2A26		9500546	Standard	NM_012365		Approved	OR7-138, OR7-141	uc011ktw.2	Q96R48	OTTHUMG00000158006	ENST00000408906.2:c.865dupA	7.37:g.143748359_143748359dupA	ENSP00000386208:p.Ile289fs						p.L288fs	NM_012365	NP_036497	Q96R48	OR2A5_HUMAN			0	864_865	+	Melanoma(164;0.0783)		288					B9EGX2|O43885|O43888	Frame_Shift_Ins	INS	ENST00000408906.2	37	c.864_865insA	CCDS43668.1																																																																																				0.525	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349986.1		
NEFM	4741	broad.mit.edu	37	8	24775980	24775980	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr8:24775980A>G	ENST00000221166.5	+	3	3394	c.2612A>G	c.(2611-2613)aAa>aGa	p.K871R	NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000437366.2_Missense_Mutation_p.K832R|NEFM_ENST00000518131.1_Missense_Mutation_p.K653R|NEFM_ENST00000433454.2_Missense_Mutation_p.K495R			P07197	NFM_HUMAN	neurofilament, medium polypeptide	871	Tail.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GGTGCTACCAAATACATCACT	0.428																																						uc003xed.4																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36						c.(2611-2613)aAa>aGa		Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.																																				SO:0001583	missense	4741					neurofilament	protein binding|structural constituent of cytoskeleton	g.chr8:24775980A>G	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.2612A>G	8.37:g.24775980A>G	ENSP00000221166:p.Lys871Arg					NEFM_uc011lac.1_Missense_Mutation_p.K653R|NEFM_uc010lue.3_Missense_Mutation_p.K495R	p.K871R	NM_005382	NP_005373	P07197	NFM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	2	2645	+		Prostate(55;0.157)	871			Tail.		B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	ENST00000221166.5	37	c.2612A>G	CCDS6046.1	.	.	.	.	.	.	.	.	.	.	A	14.48	2.547911	0.45383	.	.	ENSG00000104722	ENST00000221166;ENST00000518131;ENST00000437366;ENST00000433454	D;D;D;D	0.96136	-2.54;-2.16;-2.37;-3.92	4.63	4.63	0.57726	.	0.140668	0.31577	N	0.007414	D	0.93400	0.7895	L	0.51422	1.61	0.44012	D	0.996728	P;D	0.53151	0.759;0.958	B;P	0.45276	0.202;0.475	D	0.93240	0.6625	10	0.72032	D	0.01	.	10.675	0.45781	0.7881:0.2119:0.0:0.0	.	653;871	E7EMV2;P07197	.;NFM_HUMAN	R	871;653;832;495	ENSP00000221166:K871R;ENSP00000427872:K653R;ENSP00000410137:K832R;ENSP00000412295:K495R	ENSP00000221166:K871R	K	+	2	0	NEFM	24831885	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.614000	0.67695	1.717000	0.51406	0.383000	0.25322	AAA		0.428	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	NM_005382	
RB1CC1	9821	broad.mit.edu	37	8	53570293	53570293	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr8:53570293G>A	ENST00000025008.5	-	15	2619	c.2096C>T	c.(2095-2097)aCg>aTg	p.T699M	RB1CC1_ENST00000539297.1_Missense_Mutation_p.T699M|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.T699M	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	699					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				AAAATCAAACGTATGTGCATC	0.398																																					GBM(180;1701 2102 13475 42023 52570)	uc003xre.4																			0				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(2095-2097)aCg>aTg		Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.							110.0	111.0	110.0					8																	53570293		2203	4300	6503	SO:0001583	missense	9821				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr8:53570293G>A	AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.2096C>T	8.37:g.53570293G>A	ENSP00000025008:p.Thr699Met					RB1CC1_uc003xrf.4_Missense_Mutation_p.T699M	p.T699M	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN			14	2654	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	699					Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	37	c.2096C>T	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.805846	0.70682	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.25579	1.8;1.79;1.79	5.35	5.35	0.76521	.	0.049824	0.85682	D	0.000000	T	0.44519	0.1297	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.35699	-0.9778	10	0.72032	D	0.01	-16.7894	19.4123	0.94679	0.0:0.0:1.0:0.0	.	699;699	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	M	699	ENSP00000025008:T699M;ENSP00000396067:T699M;ENSP00000445960:T699M	ENSP00000025008:T699M	T	-	2	0	RB1CC1	53732846	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	9.416000	0.97383	2.649000	0.89929	0.655000	0.94253	ACG		0.398	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781	
RIMS2	9699	broad.mit.edu	37	8	104898339	104898339	+	Silent	SNP	C	C	T			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr8:104898339C>T	ENST00000436393.2	+	2	1087	c.846C>T	c.(844-846)ggC>ggT	p.G282G	RIMS2_ENST00000406091.3_Silent_p.G504G|RIMS2_ENST00000507740.1_Silent_p.G312G|RIMS2_ENST00000262231.10_Silent_p.G312G			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	535					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CAAAGAAAGGCGGTAAAATGC	0.433										HNSCC(12;0.0054)																												uc003yls.3																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(844-846)ggC>ggT		Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.							58.0	56.0	56.0					8																	104898339		2025	4155	6180	SO:0001819	synonymous_variant	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104898339C>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.846C>T	8.37:g.104898339C>T		HNSCC(12;0.0054)				RIMS2_uc003ylp.3_Silent_p.G504G|RIMS2_uc003ylw.2_Silent_p.G312G|RIMS2_uc003ylq.3_Silent_p.G312G|RIMS2_uc003ylr.3_Silent_p.G312G	p.G282G	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		1	1087	+			535					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	SNP	ENST00000436393.2	37	c.846C>T																																																																																					0.433	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117	
RIMS2	9699	broad.mit.edu	37	8	105257209	105257209	+	Missense_Mutation	SNP	A	A	T			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr8:105257209A>T	ENST00000436393.2	+	24	3695	c.3454A>T	c.(3454-3456)Atg>Ttg	p.M1152L	RIMS2_ENST00000406091.3_Missense_Mutation_p.M1134L|RIMS2_ENST00000507740.1_Missense_Mutation_p.M948L|RIMS2_ENST00000262231.10_Missense_Mutation_p.M973L|RIMS2_ENST00000339750.2_Missense_Mutation_p.M70L			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1196					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GGCCGTGGAAATGAGGAACTG	0.473										HNSCC(12;0.0054)																												uc003yls.3																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(3454-3456)Atg>Ttg		Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.							129.0	136.0	134.0					8																	105257209		2029	4189	6218	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105257209A>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.3454A>T	8.37:g.105257209A>T	ENSP00000390665:p.Met1152Leu	HNSCC(12;0.0054)				RIMS2_uc003ylp.3_Missense_Mutation_p.M1134L|RIMS2_uc003ylw.2_Missense_Mutation_p.M1141L|RIMS2_uc003ylq.3_Missense_Mutation_p.M948L|RIMS2_uc003ylr.3_Missense_Mutation_p.M973L	p.M1152L	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		23	3695	+			1196					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.3454A>T		.	.	.	.	.	.	.	.	.	.	A	19.75	3.886162	0.72410	.	.	ENSG00000176406	ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393;ENST00000523362;ENST00000339750	T;T;T;T;T;T;T	0.17691	2.77;2.47;2.48;2.32;2.75;2.27;2.26	5.05	5.05	0.67936	.	.	.	.	.	T	0.17238	0.0414	N	0.12569	0.235	0.80722	D	1	B;B;B;B;P	0.38863	0.061;0.34;0.027;0.257;0.65	B;P;B;P;P	0.54140	0.018;0.448;0.026;0.557;0.743	T	0.03112	-1.1071	9	0.05525	T	0.97	.	14.9548	0.71104	1.0:0.0:0.0:0.0	.	1196;1152;973;948;1134	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	L	1171;1134;1196;973;948;1141;1152;70;70	ENSP00000384892:M1134L;ENSP00000262231:M973L;ENSP00000423559:M948L;ENSP00000386228:M1141L;ENSP00000390665:M1152L;ENSP00000428478:M70L;ENSP00000342051:M70L	ENSP00000262231:M973L	M	+	1	0	RIMS2	105326385	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.151000	0.77411	2.119000	0.64992	0.528000	0.53228	ATG		0.473	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117	
TG	7038	broad.mit.edu	37	8	134107297	134107297	+	Missense_Mutation	SNP	G	G	A	rs139465983		TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr8:134107297G>A	ENST00000220616.4	+	42	7289	c.7249G>A	c.(7249-7251)Gca>Aca	p.A2417T	TG_ENST00000542445.1_Missense_Mutation_p.A787T|SLA_ENST00000395352.3_Intron|TG_ENST00000519543.1_Missense_Mutation_p.A550T|TG_ENST00000377869.1_Missense_Mutation_p.A2360T|SLA_ENST00000338087.5_Intron|SLA_ENST00000517648.1_Intron|SLA_ENST00000524345.1_Intron|SLA_ENST00000518565.1_Intron	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2417					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGGAGGCTCCGCACTCTCCCC	0.587													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18344	0.0		0.0	False		,,,				2504	0.0					uc003ytw.3																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(7249-7251)Gca>Aca		Homo sapiens thyroglobulin (TG), mRNA.		G	,,THR/ALA	2,4404	4.2+/-10.8	0,2,2201	84.0	84.0	84.0		,,7249	5.2	0.0	8	dbSNP_134	84	0,8600		0,0,4300	yes	intron,intron,missense	SLA,TG	NM_001045556.2,NM_001045557.2,NM_003235.4	,,58	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,,probably-damaging	,,2417/2769	134107297	2,13004	2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134107297G>A	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7249G>A	8.37:g.134107297G>A	ENSP00000220616:p.Ala2417Thr					TG_uc010mdw.3_Missense_Mutation_p.A1176T|TG_uc011ljb.2_Missense_Mutation_p.A786T|TG_uc011ljc.2_Missense_Mutation_p.A550T|SLA_uc003ytz.3_Intron|SLA_uc011lje.2_Intron|SLA_uc011ljf.2_Intron|SLA_uc011ljg.2_Intron|SLA_uc010mea.2_Intron	p.A2417T	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	41	7290	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	2417					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.7249G>A	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.32|14.32	2.499392|2.499392	0.44455|0.44455	4.54E-4|4.54E-4	0.0|0.0	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543|ENST00000519178	T;T;T;T|.	0.71579|.	-0.58;-0.58;-0.58;-0.58|.	6.07|6.07	5.2|5.2	0.72013|0.72013	Carboxylesterase, type B (1);|.	0.378221|.	0.25555|.	N|.	0.029865|.	T|T	0.54679|0.54679	0.1873|0.1873	M|M	0.63428|0.63428	1.95|1.95	0.30224|0.30224	N|N	0.796542|0.796542	D;P;D|.	0.63880|.	0.993;0.916;0.982|.	P;B;P|.	0.54499|.	0.754;0.366;0.569|.	T|T	0.57266|0.57266	-0.7841|-0.7841	10|5	0.87932|.	D|.	0|.	.|.	11.4331|11.4331	0.50052|0.50052	0.0824:0.0:0.9176:0.0|0.0824:0.0:0.9176:0.0	.|.	550;787;2417|.	E7EVM0;F5GWW5;P01266|.	.;.;THYG_HUMAN|.	T|H	2360;1223;2417;787;550|872	ENSP00000367100:A2360T;ENSP00000220616:A2417T;ENSP00000441693:A787T;ENSP00000430430:A550T|.	ENSP00000220616:A2417T|.	A|R	+|+	1|2	0|0	TG|TG	134176479|134176479	0.144000|0.144000	0.22641|0.22641	0.003000|0.003000	0.11579|0.11579	0.196000|0.196000	0.23810|0.23810	3.268000|3.268000	0.51585|0.51585	1.575000|1.575000	0.49775|0.49775	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.587	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235	
CYP11B2	1585	broad.mit.edu	37	8	143999226	143999226	+	Missense_Mutation	SNP	C	C	T	rs574581657		TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr8:143999226C>T	ENST00000323110.2	-	1	33	c.31G>A	c.(31-33)Gtg>Atg	p.V11M		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	11					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	GGCGCTGCCACGCACACCTCT	0.612									Familial Hyperaldosteronism type I				.|||	1	0.000199681	0.0	0.0	5008	,	,		19374	0.001		0.0	False		,,,				2504	0.0					uc003yxk.1																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39						c.(31-33)Gtg>Atg		Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 2 (CYP11B2), nuclear gene encoding mitochondrial protein, mRNA.	Candesartan(DB00796)|Metyrapone(DB01011)						103.0	104.0	104.0					8																	143999226		2203	4300	6503	SO:0001583	missense	1585	Familial Hyperaldosteronism type I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143999226C>T	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.31G>A	8.37:g.143999226C>T	ENSP00000325822:p.Val11Met						p.V11M	NM_000498	NP_000489	P19099	C11B2_HUMAN			0	34	-	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		11					B0ZBE4|Q16726	Missense_Mutation	SNP	ENST00000323110.2	37	c.31G>A	CCDS6393.1	.	.	.	.	.	.	.	.	.	.	.	3.307	-0.141650	0.06669	.	.	ENSG00000179142	ENST00000323110	T	0.75589	-0.95	2.94	-5.88	0.02290	.	.	.	.	.	T	0.35595	0.0937	N	0.00926	-1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22243	-1.0222	9	0.26408	T	0.33	.	3.4951	0.07651	0.137:0.1127:0.5396:0.2107	.	11	P19099	C11B2_HUMAN	M	11	ENSP00000325822:V11M	ENSP00000325822:V11M	V	-	1	0	CYP11B2	143996228	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.974000	0.03794	-1.354000	0.02188	-1.246000	0.01523	GTG		0.612	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1		
MFSD3	113655	broad.mit.edu	37	8	145737371	145737371	+	IGR	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr8:145737371G>A	ENST00000301327.4	+	0	1548				RECQL4_ENST00000532237.1_5'UTR|RECQL4_ENST00000428558.2_Missense_Mutation_p.R1106C|CTD-2517M22.17_ENST00000580385.1_RNA	NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TCAAAGTAGCGGCCGAGCAGG	0.677																																						uc003zdj.3										"""N, F, S"""						"""osteosarcoma, skin basal and sqamous cell"""			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						c.(3316-3318)Cgc>Tgc	Genes defective in diseases associated with sensitivity to DNA damaging agents	Homo sapiens RecQ protein-like 4 (RECQL4), mRNA.							22.0	25.0	24.0					8																	145737371		2098	4218	6316	SO:0001628	intergenic_variant	9401	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome			DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding	g.chr8:145737371G>A		CCDS6431.1	8q24.3	2005-11-17			ENSG00000167700	ENSG00000167700			25157	protein-coding gene	gene with protein product							Standard	NM_138431		Approved		uc003zdi.1	Q96ES6	OTTHUMG00000165177		8.37:g.145737371G>A							p.R1106C	NM_004260	NP_004251	O94761	RECQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		19	3358	-	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1106		R -> H (in dbSNP:rs34236392).				Missense_Mutation	SNP	ENST00000301327.4	37	c.3316C>T	CCDS6431.1																																																																																				0.677	MFSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382478.2	NM_138431	
BNC2	54796	broad.mit.edu	37	9	16435843	16435843	+	Silent	SNP	G	G	A	rs371557826		TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr9:16435843G>A	ENST00000380672.4	-	6	2406	c.2349C>T	c.(2347-2349)taC>taT	p.Y783Y	BNC2_ENST00000545497.1_Silent_p.Y688Y|BNC2_ENST00000380667.2_Silent_p.Y716Y|BNC2_ENST00000380666.2_Silent_p.Y783Y	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		AAAACATGTCGTAAGTGGGGT	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		20700	0.0		0.0	False		,,,				2504	0.001					uc003zml.3																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60						c.(2347-2349)taC>taT		Homo sapiens basonuclin 2 (BNC2), mRNA.		G		1,4405	2.1+/-5.4	0,1,2202	119.0	100.0	106.0		2349	-6.0	0.7	9		106	0,8600		0,0,4300	no	coding-synonymous	BNC2	NM_017637.5		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		783/1100	16435843	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16435843G>A	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.2349C>T	9.37:g.16435843G>A						BNC2_uc011lmw.2_Silent_p.Y688Y|BNC2_uc003zmm.3_Silent_p.Y741Y|BNC2_uc003zmq.1_Silent_p.Y797Y|BNC2_uc003zmr.1_Silent_p.Y820Y|BNC2_uc003zmp.1_Silent_p.Y811Y|BNC2_uc010mij.1_Silent_p.Y705Y|BNC2_uc011lmv.2_Silent_p.Y609Y|BNC2_uc003zmo.1_Silent_p.Y705Y|BNC2_uc003zmj.3_Silent_p.Y548Y|BNC2_uc003zmk.3_Non-coding_Transcript|BNC2_uc003zmi.3_Silent_p.Y548Y|BNC2_uc003zmn.1_Silent_p.Y548Y	p.Y783Y	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	5	2489	-			783						Silent	SNP	ENST00000380672.4	37	c.2349C>T	CCDS6482.2																																																																																				0.493	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637	
PGM5	5239	broad.mit.edu	37	9	71098902	71098902	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr9:71098902G>A	ENST00000396396.1	+	9	1646	c.1417G>A	c.(1417-1419)Gtg>Atg	p.V473M		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	473					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						TGTCTACAGCGTGGCGAAGAC	0.502																																						uc004agr.3																			0				endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						c.(1417-1419)Gtg>Atg		Homo sapiens phosphoglucomutase 5 (PGM5), mRNA.							161.0	135.0	144.0					9																	71098902		2203	4300	6503	SO:0001583	missense	5239				cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	g.chr9:71098902G>A	L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"""phosphoglucomutase-related protein"""	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.1417G>A	9.37:g.71098902G>A	ENSP00000379678:p.Val473Met						p.V473M	NM_021965	NP_068800	Q15124	PGM5_HUMAN			8	1646	+			473					B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP	ENST00000396396.1	37	c.1417G>A	CCDS6622.2	.	.	.	.	.	.	.	.	.	.	G	24.4	4.528502	0.85706	.	.	ENSG00000154330	ENST00000396396	T	0.53857	0.6	5.75	4.85	0.62838	.	0.059250	0.64402	D	0.000002	T	0.78496	0.4292	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83903	0.0291	10	0.87932	D	0	.	12.8354	0.57770	0.0807:0.0:0.9193:0.0	.	473	Q15124	PGM5_HUMAN	M	473	ENSP00000379678:V473M	ENSP00000379678:V473M	V	+	1	0	PGM5	70288722	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	7.766000	0.85320	1.406000	0.46857	0.655000	0.94253	GTG		0.502	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2	NM_021965	
NACC2	138151	broad.mit.edu	37	9	138903727	138903727	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr9:138903727G>A	ENST00000371753.1	-	5	1457	c.1399C>T	c.(1399-1401)Cgc>Tgc	p.R467C	NACC2_ENST00000277554.2_Missense_Mutation_p.R467C			Q96BF6	NACC2_HUMAN	NACC family member 2, BEN and BTB (POZ) domain containing	467					cellular protein complex localization (GO:0034629)|histone deacetylation (GO:0016575)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle by negative regulation of transcription from RNA polymerase II promoter (GO:1900477)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|posttranscriptional regulation of gene expression (GO:0010608)|protein homooligomerization (GO:0051260)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5						ATGACCGTGCGGTACATCTCC	0.697																																						uc004cgv.4																			0				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5						c.(1399-1401)Cgc>Tgc		Homo sapiens NACC family member 2, BEN and BTB (POZ) domain containing (NACC2), mRNA.							21.0	18.0	19.0					9																	138903727		2182	4277	6459	SO:0001583	missense	138151				negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization	nuclear body		g.chr9:138903727G>A	BC015649	CCDS6993.1	9q34.3	2013-01-09	2008-10-03	2008-10-03	ENSG00000148411	ENSG00000148411		"""BEN domain containing"", ""BTB/POZ domain containing"""	23846	protein-coding gene	gene with protein product	"""BEN domain containing 9"""	615786	"""BTB (POZ) domain containing 14A"""	BTBD14A		12477932	Standard	NM_144653		Approved	MGC23427, BEND9, BTBD31	uc004cgv.4	Q96BF6	OTTHUMG00000020921	ENST00000371753.1:c.1399C>T	9.37:g.138903727G>A	ENSP00000360818:p.Arg467Cys					NACC2_uc010nbh.3_Missense_Mutation_p.R106C	p.R467C	NM_144653	NP_653254	Q96BF6	NACC2_HUMAN			5	1555	-			467						Missense_Mutation	SNP	ENST00000371753.1	37	c.1399C>T	CCDS6993.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516815	0.85495	.	.	ENSG00000148411	ENST00000371753;ENST00000277554	T;T	0.66099	-0.19;-0.19	5.23	3.38	0.38709	.	0.066769	0.64402	D	0.000013	T	0.45955	0.1368	N	0.24115	0.695	0.53688	D	0.999979	B	0.23490	0.086	B	0.12837	0.008	T	0.37267	-0.9713	10	0.59425	D	0.04	.	10.7966	0.46464	0.1551:0.0:0.8449:0.0	.	467	Q96BF6	NACC2_HUMAN	C	467	ENSP00000360818:R467C;ENSP00000277554:R467C	ENSP00000277554:R467C	R	-	1	0	NACC2	138043548	1.000000	0.71417	0.998000	0.56505	0.811000	0.45836	5.557000	0.67313	0.589000	0.29677	0.313000	0.20887	CGC		0.697	NACC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055040.1	NM_144653	
CACNA1B	774	broad.mit.edu	37	9	141012523	141012523	+	Nonsense_Mutation	SNP	C	C	G			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr9:141012523C>G	ENST00000371372.1	+	43	6048	c.5903C>G	c.(5902-5904)tCa>tGa	p.S1968*	CACNA1B_ENST00000371357.1_Nonsense_Mutation_p.S1967*|CACNA1B_ENST00000371355.4_Nonsense_Mutation_p.S1969*|CACNA1B_ENST00000277551.2_Nonsense_Mutation_p.S1968*|CACNA1B_ENST00000371363.1_Nonsense_Mutation_p.S1966*|CACNA1B_ENST00000277549.5_Nonsense_Mutation_p.S1162*	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1968					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GTGGGGCGGTCAGGAGCACTG	0.637																																						uc004cog.3																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(5896-5898)tCa>tGa		Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	Amlodipine(DB00381)|Gabapentin(DB00996)						18.0	21.0	20.0					9																	141012523		1904	4124	6028	SO:0001587	stop_gained	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:141012523C>G	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.5903C>G	9.37:g.141012523C>G	ENSP00000360423:p.Ser1968*					CACNA1B_uc022bqn.1_Nonsense_Mutation_p.S1966*|CACNA1B_uc004coi.3_Nonsense_Mutation_p.S1180*	p.S1966*	NM_000718	NP_000709	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	41	6042	+	all_cancers(76;0.166)		1968					B1AQK5	Nonsense_Mutation	SNP	ENST00000371372.1	37	c.5897C>G	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	C	55	23.708774	0.99956	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	.	.	.	4.41	2.34	0.29019	.	5.408420	0.00166	N	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	4.1707	0.10327	0.1497:0.4712:0.2918:0.0873	.	.	.	.	X	1968;1968;1162;1966;1967;1969	.	ENSP00000277549:S1162X	S	+	2	0	CACNA1B	140132344	0.111000	0.22076	0.001000	0.08648	0.056000	0.15407	1.370000	0.34238	0.803000	0.34113	0.561000	0.74099	TCA		0.637	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718	
MXRA5	25878	broad.mit.edu	37	X	3235282	3235282	+	Missense_Mutation	SNP	C	C	T	rs199912992		TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chrX:3235282C>T	ENST00000217939.6	-	6	6594	c.6440G>A	c.(6439-6441)cGc>cAc	p.R2147H		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2147	Ig-like C2-type 6.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCCCGTGATGCGCGCGTTGGC	0.706																																						uc004crg.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(6439-6441)cGc>cAc		Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.							31.0	25.0	27.0					X																	3235282		2202	4299	6501	SO:0001583	missense	25878					extracellular region		g.chrX:3235282C>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.6440G>A	X.37:g.3235282C>T	ENSP00000217939:p.Arg2147His						p.R2147H	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			5	6597	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2147			Ig-like C2-type 6.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.6440G>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.401625	0.42613	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.79141	-1.24	3.48	2.3	0.28687	Immunoglobulin-like (1);	0.288954	0.17485	U	0.172555	D	0.83064	0.5173	M	0.69523	2.12	0.28271	N	0.924397	D	0.89917	1.0	D	0.72075	0.976	T	0.72659	-0.4226	10	0.54805	T	0.06	.	4.6936	0.12793	0.0:0.5058:0.0:0.4942	.	2147	Q9NR99	MXRA5_HUMAN	H	2147	ENSP00000217939:R2147H	ENSP00000217939:R2147H	R	-	2	0	MXRA5	3245282	1.000000	0.71417	0.998000	0.56505	0.264000	0.26372	1.258000	0.32944	1.354000	0.45846	0.597000	0.82753	CGC		0.706	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419	
ATP11C	286410	broad.mit.edu	37	X	138908934	138908934	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chrX:138908934T>C	ENST00000327569.3	-	2	183	c.85A>G	c.(85-87)Aat>Gat	p.N29D	ATP11C_ENST00000370557.1_Missense_Mutation_p.N26D|ATP11C_ENST00000370543.1_Missense_Mutation_p.N29D|ATP11C_ENST00000361648.2_Missense_Mutation_p.N29D|ATP11C_ENST00000359686.2_Missense_Mutation_p.N29D	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	29					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					ACTGGATGATTGCCAACAAAC	0.373																																						uc004faz.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75						c.(85-87)Aat>Gat		Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.							136.0	114.0	122.0					X																	138908934		2203	4300	6503	SO:0001583	missense	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138908934T>C	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.85A>G	X.37:g.138908934T>C	ENSP00000332756:p.Asn29Asp					ATP11C_uc004fba.3_Missense_Mutation_p.N29D	p.N29D	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN			1	184	-	Acute lymphoblastic leukemia(192;0.000127)		29					Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	c.85A>G	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	T	15.11	2.736447	0.49045	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58	5.03	0.992	0.19819	.	0.235955	0.40728	N	0.001024	T	0.33933	0.0880	L	0.27975	0.815	0.26790	N	0.969426	B;B	0.24963	0.115;0.041	B;B	0.28139	0.086;0.039	T	0.24621	-1.0155	10	0.08179	T	0.78	.	11.3771	0.49735	0.0:0.0:0.6225:0.3775	.	29;29	Q8NB49-3;Q8NB49	.;AT11C_HUMAN	D	26;29;29;29;29	ENSP00000359588:N26D;ENSP00000355165:N29D;ENSP00000332756:N29D;ENSP00000359574:N29D;ENSP00000352715:N29D	ENSP00000332756:N29D	N	-	1	0	ATP11C	138736600	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	3.374000	0.52402	0.307000	0.22880	0.441000	0.28932	AAT		0.373	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694	
