#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
IMPG1	3617	broad.mit.edu	37	6	76657112	76657112	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr6:76657112C>T	ENST00000369950.3	-	14	2152	c.1963G>A	c.(1963-1965)Ggg>Agg	p.G655R	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TCCAAGACCCCGTGCACAGCC	0.448																																					Pancreas(37;839 1141 2599 26037)	ENST00000369950.3																			0				breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1963-1965)Ggg>Agg		interphotoreceptor matrix proteoglycan 1							120.0	109.0	113.0					6																	76657112		2203	4300	6503	SO:0001583	missense	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76657112C>T	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.1963G>A	6.37:g.76657112C>T	ENSP00000358966:p.Gly655Arg					IMPG1_ENST00000369963.3_3'UTR	p.G655R	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN			14	2152	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	655			SEA 2.			Missense_Mutation	SNP	ENST00000369950.3	37	c.1963G>A	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	C	9.065	0.995535	0.19043	.	.	ENSG00000112706	ENST00000369950	T	0.31247	1.5	5.86	-1.23	0.09465	SEA (2);	0.718157	0.12893	N	0.430419	T	0.06280	0.0162	L	0.44542	1.39	0.09310	N	0.999998	B	0.24426	0.103	B	0.25140	0.058	T	0.37979	-0.9682	10	0.16896	T	0.51	.	1.6874	0.02845	0.4062:0.2965:0.0892:0.2081	.	655	Q17R60	IMPG1_HUMAN	R	655	ENSP00000358966:G655R	ENSP00000358966:G655R	G	-	1	0	IMPG1	76713832	0.006000	0.16342	0.000000	0.03702	0.236000	0.25371	1.507000	0.35758	-0.123000	0.11745	0.650000	0.86243	GGG		0.448	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		13	47	0	0	0	0.411799	0	13	47				
HDHD2	84064	broad.mit.edu	37	18	44656634	44656634	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr18:44656634T>G	ENST00000300605.6	-	4	528	c.376A>C	c.(376-378)Att>Ctt	p.I126L	HDHD2_ENST00000587841.1_Intron	NM_032124.4	NP_115500.1	Q9H0R4	HDHD2_HUMAN	haloacid dehalogenase-like hydrolase domain containing 2	126						extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			kidney(2)|large_intestine(2)|lung(1)|skin(1)	6						TGATTCAGAATTTGATAATGA	0.353																																						ENST00000300605.6																			0				kidney(2)|large_intestine(2)|lung(1)|skin(1)	6						c.(376-378)Att>Ctt		haloacid dehalogenase-like hydrolase domain containing 2							135.0	138.0	137.0					18																	44656634		2203	4300	6503	SO:0001583	missense	84064						hydrolase activity	g.chr18:44656634T>G	AL136681	CCDS32829.1	18q21.1	2008-02-05				ENSG00000167220			25364	protein-coding gene	gene with protein product						11230166	Standard	NM_032124		Approved	DKFZP564D1378	uc002lcs.3	Q9H0R4		ENST00000300605.6:c.376A>C	18.37:g.44656634T>G	ENSP00000300605:p.Ile126Leu					HDHD2_ENST00000587841.1_Intron	p.I126L	NM_032124.4	NP_115500.1	Q9H0R4	HDHD2_HUMAN			4	528	-			126					A8K7T3|Q96NV4	Missense_Mutation	SNP	ENST00000300605.6	37	c.376A>C	CCDS32829.1	.	.	.	.	.	.	.	.	.	.	T	9.569	1.120467	0.20877	.	.	ENSG00000167220	ENST00000300605	T	0.28666	1.6	5.75	-4.36	0.03645	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);Nitrophenylphosphatase-like  domain (1);	0.867553	0.10351	N	0.685100	T	0.13543	0.0328	N	0.16833	0.445	0.20074	N	0.999934	B	0.02656	0.0	B	0.01281	0.0	T	0.20605	-1.0270	10	0.41790	T	0.15	-0.5602	3.0648	0.06211	0.1084:0.3472:0.1172:0.4273	.	126	Q9H0R4	HDHD2_HUMAN	L	126	ENSP00000300605:I126L	ENSP00000300605:I126L	I	-	1	0	HDHD2	42910632	0.991000	0.36638	0.137000	0.22149	0.857000	0.48899	0.409000	0.21082	-0.480000	0.06803	-0.250000	0.11733	ATT		0.353	HDHD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450668.2	NM_032124		7	77	0	0	0	0.278610	0	7	77				
CNOT1	23019	broad.mit.edu	37	16	58565875	58565875	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr16:58565875G>A	ENST00000317147.5	-	42	6496	c.6164C>T	c.(6163-6165)aCg>aTg	p.T2055M	CNOT1_ENST00000245138.4_Missense_Mutation_p.T906M|CNOT1_ENST00000569240.1_Missense_Mutation_p.T2050M	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2055					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CTGCTGTGGCGTATGTGCCAG	0.423																																						ENST00000317147.5																			0				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(6163-6165)aCg>aTg		CCR4-NOT transcription complex, subunit 1							111.0	104.0	106.0					16																	58565875		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58565875G>A	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.6164C>T	16.37:g.58565875G>A	ENSP00000320949:p.Thr2055Met					CNOT1_ENST00000245138.4_Missense_Mutation_p.T906M|CNOT1_ENST00000569240.1_Missense_Mutation_p.T2050M	p.T2055M	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	42	6496	-			2055					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.6164C>T	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.628600	0.87560	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000546037;ENST00000245138;ENST00000394200	T	0.47177	0.85	5.52	5.52	0.82312	CCR4-Not complex component, Not1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.65709	0.2717	M	0.75085	2.285	0.80722	D	1	D;D;D	0.76494	0.999;0.983;0.982	P;P;P	0.57776	0.785;0.827;0.76	T	0.62798	-0.6778	10	0.34782	T	0.22	.	19.7884	0.96447	0.0:0.0:1.0:0.0	.	906;2055;2050	B5MDN3;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	M	2055;749;60;906;2050	ENSP00000320949:T2055M	ENSP00000245138:T906M	T	-	2	0	CNOT1	57123376	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.758000	0.94735	0.650000	0.86243	ACG		0.423	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		16	95	0	0	0	0.520397	0	16	95				
IGLV7-43	28776	broad.mit.edu	37	22	22749730	22749730	+	RNA	SNP	G	G	A			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr22:22749730G>A	ENST00000390298.2	+	0	288									immunoglobulin lambda variable 7-43																		CGGTTCTCAGGCTCCCTCCTT	0.552																																						ENST00000390298.2																			0																				58.0	58.0	58.0					22																	22749730		1896	4121	6017			0							g.chr22:22749730G>A	X14614		22q11.2	2012-02-08			ENSG00000211652	ENSG00000211652		"""Immunoglobulins / IGL locus"""	5929	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151053		22.37:g.22749730G>A														0	288	+									RNA	SNP	ENST00000390298.2	37																																																																																						0.552	IGLV7-43-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321113.1	NG_000002		5	51	0	0	0	0.184627	0	5	51				
LPHN3	23284	broad.mit.edu	37	4	62453140	62453140	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr4:62453140A>G	ENST00000514591.1	+	4	580	c.251A>G	c.(250-252)tAt>tGt	p.Y84C	LPHN3_ENST00000506746.1_Missense_Mutation_p.Y152C|LPHN3_ENST00000508946.1_Missense_Mutation_p.Y84C|LPHN3_ENST00000507625.1_Missense_Mutation_p.Y152C|LPHN3_ENST00000507164.1_Missense_Mutation_p.Y152C|LPHN3_ENST00000506720.1_Missense_Mutation_p.Y152C|LPHN3_ENST00000508693.1_Missense_Mutation_p.Y152C|LPHN3_ENST00000506700.1_Missense_Mutation_p.Y84C|LPHN3_ENST00000512091.2_Missense_Mutation_p.Y84C|LPHN3_ENST00000511324.1_Missense_Mutation_p.Y152C|LPHN3_ENST00000504896.1_Missense_Mutation_p.Y84C|LPHN3_ENST00000545650.1_Missense_Mutation_p.Y84C|LPHN3_ENST00000514157.1_Missense_Mutation_p.Y84C|LPHN3_ENST00000509896.1_Missense_Mutation_p.Y152C|LPHN3_ENST00000514996.1_Missense_Mutation_p.Y84C			Q9HAR2	LPHN3_HUMAN	latrophilin 3	84	SUEL-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00260}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CCAGATGCCTATAAGATTATG	0.363																																						ENST00000512091.1																			0				breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(250-252)tAt>tGt		latrophilin 3							75.0	74.0	75.0					4																	62453140		1894	4136	6030	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62453140A>G	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.251A>G	4.37:g.62453140A>G	ENSP00000422533:p.Tyr84Cys					LPHN3_ENST00000507164.1_Missense_Mutation_p.Y152C|LPHN3_ENST00000514591.1_Missense_Mutation_p.Y84C|LPHN3_ENST00000508693.1_Missense_Mutation_p.Y152C|LPHN3_ENST00000506746.1_Missense_Mutation_p.Y152C|LPHN3_ENST00000504896.1_Missense_Mutation_p.Y84C|LPHN3_ENST00000511324.1_Missense_Mutation_p.Y152C|LPHN3_ENST00000506700.1_Missense_Mutation_p.Y84C|LPHN3_ENST00000514157.1_Missense_Mutation_p.Y84C|LPHN3_ENST00000508946.1_Missense_Mutation_p.Y84C|LPHN3_ENST00000506720.1_Missense_Mutation_p.Y152C|LPHN3_ENST00000545650.1_Missense_Mutation_p.Y84C|LPHN3_ENST00000514996.1_Missense_Mutation_p.Y84C|LPHN3_ENST00000507625.1_Missense_Mutation_p.Y152C|LPHN3_ENST00000509896.1_Missense_Mutation_p.Y152C	p.Y84C			Q9HAR2	LPHN3_HUMAN			4	998	+			84			SUEL-type lectin.		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.251A>G	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	A	17.09	3.299449	0.60195	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000001	T	0.40645	0.1125	M	0.65677	2.01	0.48341	D	0.999639	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.85130	0.975;0.997;0.923	T	0.29305	-1.0016	10	0.87932	D	0	.	14.4832	0.67597	1.0:0.0:0.0:0.0	.	84;152;84	E9PE04;E7EN28;Q9HAR2-2	.;.;.	C	84;84;152;152;84;84;84;84;84;152;152;152;84;84;84;152;152;84	ENSP00000423388:Y84C;ENSP00000422533:Y84C;ENSP00000423787:Y152C;ENSP00000425033:Y152C;ENSP00000424120:Y84C;ENSP00000439831:Y84C;ENSP00000421476:Y152C;ENSP00000424030:Y152C;ENSP00000421372:Y152C;ENSP00000425201:Y84C;ENSP00000423434:Y84C;ENSP00000421627:Y84C;ENSP00000420931:Y152C;ENSP00000425884:Y152C;ENSP00000424258:Y84C	ENSP00000280009:Y84C	Y	+	2	0	LPHN3	62135735	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.669000	0.61575	2.084000	0.62774	0.477000	0.44152	TAT		0.363	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			6	18	0	0	0	0.248553	0	6	18				
DNAH5	1767	broad.mit.edu	37	5	13736040	13736040	+	Splice_Site	SNP	C	C	G			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr5:13736040C>G	ENST00000265104.4	-	67	11561	c.11457G>C	c.(11455-11457)gtG>gtC	p.V3819V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3819					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCCGCGTAGCCACTGGAAGAC	0.443									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.e67-1		dynein, axonemal, heavy chain 5							66.0	64.0	64.0					5																	13736040		2203	4300	6503	SO:0001630	splice_region_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13736040C>G	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.11456-1G>C	5.37:g.13736040C>G							p.V3819_splice	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			67	11561	-	Lung NSC(4;0.00476)		3819					Q92860|Q96L74|Q9H5S7|Q9HCG9	Splice_Site	SNP	ENST00000265104.4	37	c.11455_splice	CCDS3882.1																																																																																				0.443	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	Silent	10	47	0	0	0	0.335167	0	10	47				
RALGAPA2	57186	broad.mit.edu	37	20	20616214	20616214	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr20:20616214C>T	ENST00000202677.7	-	9	860	c.853G>A	c.(853-855)Gac>Aac	p.D285N		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	285					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TTCTCATTGTCTCGAGTGGTA	0.343																																						ENST00000202677.6																			0				endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						c.(853-855)Gac>Aac		Ral GTPase activating protein, alpha subunit 2 (catalytic)							175.0	167.0	170.0					20																	20616214		1858	4101	5959	SO:0001583	missense	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20616214C>T	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.853G>A	20.37:g.20616214C>T	ENSP00000202677:p.Asp285Asn						p.D285N	NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN			9	995	-			285					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	c.853G>A	CCDS46584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.94|13.94	2.387992|2.387992	0.42308|0.42308	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000202677;ENST00000424981;ENST00000424490|ENST00000432524	T;T|T	0.75367|0.78707	-0.93;-0.93|-1.2	5.61|5.61	4.58|4.58	0.56647|0.56647	.|.	0.163743|.	0.64402|.	D|.	0.000007|.	T|T	0.47377|0.47377	0.1442|0.1442	N|N	0.04018|0.04018	-0.295|-0.295	0.40610|0.40610	D|D	0.981668|0.981668	B|.	0.09022|.	0.002|.	B|.	0.06405|.	0.002|.	T|T	0.53165|0.53165	-0.8477|-0.8477	10|7	0.17832|0.05620	T|T	0.49|0.96	.|.	3.6585|3.6585	0.08230|0.08230	0.0:0.6565:0.0:0.3435|0.0:0.6565:0.0:0.3435	.|.	285|.	Q2PPJ7|.	RGPA2_HUMAN|.	N|K	285;137;137|136	ENSP00000202677:D285N;ENSP00000400901:D137N|ENSP00000414319:R136K	ENSP00000202677:D285N|ENSP00000414319:R136K	D|R	-|-	1|2	0|0	RALGAPA2|RALGAPA2	20564214|20564214	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.835000|0.835000	0.47333|0.47333	5.797000|5.797000	0.69087|0.69087	2.643000|2.643000	0.89663|0.89663	0.557000|0.557000	0.71058|0.71058	GAC|AGA		0.343	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		21	137	0	0	0	0.608945	0	21	137				
PBRM1	55193	broad.mit.edu	37	3	52643532	52643532	+	Silent	SNP	T	T	A			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr3:52643532T>A	ENST00000296302.7	-	16	2365	c.2364A>T	c.(2362-2364)tcA>tcT	p.S788S	PBRM1_ENST00000409057.1_Silent_p.S788S|PBRM1_ENST00000394830.3_Silent_p.S788S|PBRM1_ENST00000337303.4_Silent_p.S788S|PBRM1_ENST00000356770.4_Silent_p.S756S|PBRM1_ENST00000409114.3_Silent_p.S803S|PBRM1_ENST00000410007.1_Silent_p.S788S|PBRM1_ENST00000409767.1_Silent_p.S803S			Q86U86	PB1_HUMAN	polybromo 1	788					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GACTCATGACTGACACAAAAA	0.453			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		0				breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(2266-2268)tcA>tcT		polybromo 1							101.0	95.0	97.0					3																	52643532		2203	4300	6503	SO:0001819	synonymous_variant	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52643532T>A	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2364A>T	3.37:g.52643532T>A						PBRM1_ENST00000409057.1_Silent_p.S788S|PBRM1_ENST00000410007.1_Silent_p.S788S|PBRM1_ENST00000394830.3_Silent_p.S788S|PBRM1_ENST00000296302.7_Silent_p.S788S|PBRM1_ENST00000409114.3_Silent_p.S803S|PBRM1_ENST00000337303.4_Silent_p.S788S|PBRM1_ENST00000409767.1_Silent_p.S803S	p.S756S			Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	15	2270	-			788					A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Silent	SNP	ENST00000296302.7	37	c.2268A>T																																																																																					0.453	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		5	70	0	0	0	0.217242	0	5	70				
PCDHB2	56133	broad.mit.edu	37	5	140474488	140474488	+	Silent	SNP	C	C	T	rs142513918	byFrequency	TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr5:140474488C>T	ENST00000194155.4	+	1	262	c.114C>T	c.(112-114)gcC>gcT	p.A38A		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	38	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTCAGTGGCCGAGGAAACGG	0.532													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		18286	0.0		0.0	False		,,,				2504	0.0					ENST00000194155.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(112-114)gcC>gcT				C		3,4403	6.2+/-15.9	0,3,2200	66.0	71.0	69.0		114	-10.3	0.5	5	dbSNP_134	69	0,8600		0,0,4300	no	coding-synonymous	PCDHB2	NM_018936.2		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		38/799	140474488	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140474488C>T	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.114C>T	5.37:g.140474488C>T							p.A38A	NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	262	+			38			Cadherin 1.		Q4KMU1	Silent	SNP	ENST00000194155.4	37	c.114C>T	CCDS4244.1																																																																																				0.532	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		3	51	0	0	0	0.115264	0	3	51				
GLI2	2736	broad.mit.edu	37	2	121684944	121684944	+	Silent	SNP	G	G	A			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr2:121684944G>A	ENST00000452319.1	+	3	216	c.156G>A	c.(154-156)caG>caA	p.Q52Q	GLI2_ENST00000361492.4_Silent_p.Q52Q|GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000435313.2_3'UTR					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CAGTGCCGCAGCATCTCTTGC	0.502																																						ENST00000452319.1																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(154-156)caG>caA		GLI family zinc finger 2							243.0	205.0	218.0					2																	121684944		2203	4300	6503	SO:0001819	synonymous_variant	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121684944G>A		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.156G>A	2.37:g.121684944G>A						GLI2_ENST00000361492.4_Silent_p.Q52Q|GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000435313.2_3'UTR	p.Q52Q			P10070	GLI2_HUMAN			3	216	+	Renal(3;0.0496)	Prostate(154;0.0623)	52						Silent	SNP	ENST00000452319.1	37	c.156G>A	CCDS33283.1																																																																																				0.502	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		10	159	0	0	0	0.361761	0	10	159				
TRBV6-7	28600	broad.mit.edu	37	7	142144058	142144058	+	RNA	SNP	C	C	T			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr7:142144058C>T	ENST00000390373.2	-	0	26									T cell receptor beta variable 6-7 (non-functional)																		GAGAAAAGGCCACACAGCACA	0.602																																						ENST00000390373.2																			0																																																			0							g.chr7:142144058C>T	L36092		7q34	2012-02-07	2008-09-12		ENSG00000253188	ENSG00000253188		"""T cell receptors / TRB locus"""	12232	other	T cell receptor gene			"""T cell receptor beta variable 6-7"""			8650574	Standard	NG_001333		Approved	TRBV67, TCRBV13S8P, TCRBV6S7			OTTHUMG00000158511		7.37:g.142144058C>T														0	26	-									RNA	SNP	ENST00000390373.2	37																																																																																						0.602	TRBV6-7-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351217.2	NG_001333		5	170	0	0	0	0.361761	0	5	170				
GNAS	2778	broad.mit.edu	37	20	57415453	57415453	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr20:57415453C>A	ENST00000313949.7	+	1	681	c.292C>A	c.(292-294)Ccc>Acc	p.P98T	GNAS-AS1_ENST00000443966.1_RNA|GNAS_ENST00000371075.3_Missense_Mutation_p.P98T|GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000371098.2_Missense_Mutation_p.P98T|GNAS-AS1_ENST00000424094.2_RNA			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCTGTCCCTCCCCGAGTGCCT	0.617			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000313949.7				Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""	E			pituitary adenoma		0				adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(292-294)Ccc>Acc		GNAS complex locus							72.0	76.0	74.0					20																	57415453		2203	4300	6503	SO:0001583	missense	2778				activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57415453C>A	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000313949.7:c.292C>A	20.37:g.57415453C>A	ENSP00000323571:p.Pro98Thr	TSP Lung(22;0.16)				GNAS-AS1_ENST00000598163.1_RNA|GNAS-AS1_ENST00000443966.1_RNA|GNAS_ENST00000371098.2_Missense_Mutation_p.P98T|GNAS-AS1_ENST00000424094.2_RNA|GNAS_ENST00000371075.3_Missense_Mutation_p.P98T	p.P98T			P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		1	681	+	all_lung(29;0.0104)		100					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000313949.7	37	c.292C>A	CCDS13471.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.629523	0.28978	.	.	ENSG00000087460	ENST00000313949;ENST00000371098;ENST00000371075;ENST00000453292	.	.	.	4.36	3.4	0.38934	.	.	.	.	.	T	0.47875	0.1469	N	0.24115	0.695	0.80722	D	1	P	0.51537	0.946	P	0.52343	0.696	T	0.50329	-0.8841	8	0.72032	D	0.01	.	10.2664	0.43457	0.198:0.802:0.0:0.0	.	98	O95467	GNAS3_HUMAN	T	98;98;98;19	.	ENSP00000323571:P98T	P	+	1	0	GNAS	56848848	0.929000	0.31497	0.844000	0.33320	0.355000	0.29361	1.923000	0.40055	1.125000	0.41998	0.585000	0.79938	CCC		0.617	GNAS-002	KNOWN	NMD_exception|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080418.7	NM_000516		22	52	1	0	1.10923e-09	0.639603	1.21007e-09	22	52				
NXF3	56000	broad.mit.edu	37	X	102338548	102338548	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chrX:102338548C>T	ENST00000395065.3	-	4	525	c.424G>A	c.(424-426)Gtc>Atc	p.V142I	NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Missense_Mutation_p.V53I	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	142	RRM.				mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						TCAACTGGGACGAAGGGTACA	0.458																																						ENST00000395065.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(424-426)Gtc>Atc		nuclear RNA export factor 3							154.0	142.0	146.0					X																	102338548		2203	4300	6503	SO:0001583	missense	56000					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:102338548C>T	AJ277527	CCDS14503.1	Xq22	2008-02-05			ENSG00000147206	ENSG00000147206			8073	protein-coding gene	gene with protein product		300316				11073998	Standard	NM_022052		Approved		uc004eju.3	Q9H4D5	OTTHUMG00000022088	ENST00000395065.3:c.424G>A	X.37:g.102338548C>T	ENSP00000378504:p.Val142Ile					NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Missense_Mutation_p.V53I	p.V142I	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN			4	525	-			142			RRM.		B4DYS7|Q5H9I1|Q9H1A9	Missense_Mutation	SNP	ENST00000395065.3	37	c.424G>A	CCDS14503.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.849|1.849	-0.465460|-0.465460	0.04476|0.04476	.|.	.|.	ENSG00000147206|ENSG00000147206	ENST00000427570|ENST00000395065;ENST00000425463	.|T;T	.|0.39056	.|1.1;1.1	3.54|3.54	1.11|1.11	0.20524|0.20524	.|Nuclear RNA export factor Tap, RNA-binding domain (2);Nucleotide-binding, alpha-beta plait (1);	.|0.574941	.|0.18350	.|N	.|0.143920	T|T	0.12561|0.12561	0.0305|0.0305	N|N	0.01482|0.01482	-0.84|-0.84	0.09310|0.09310	N|N	1|1	.|B;B	.|0.09022	.|0.002;0.0	.|B;B	.|0.08055	.|0.003;0.001	T|T	0.27088|0.27088	-1.0084|-1.0084	5|10	.|0.13470	.|T	.|0.59	-0.0566|-0.0566	4.7088|4.7088	0.12863|0.12863	0.0:0.2828:0.0:0.7172|0.0:0.2828:0.0:0.7172	.|.	.|142;142	.|B4DYI1;Q9H4D5	.|.;NXF3_HUMAN	H|I	18|142;53	.|ENSP00000378504:V142I;ENSP00000404347:V53I	.|ENSP00000378504:V142I	R|V	-|-	2|1	0|0	NXF3|NXF3	102225204|102225204	0.990000|0.990000	0.36364|0.36364	0.006000|0.006000	0.13384|0.13384	0.001000|0.001000	0.01503|0.01503	2.451000|2.451000	0.44952|0.44952	0.132000|0.132000	0.18615|0.18615	-0.296000|-0.296000	0.09543|0.09543	CGT|GTC		0.458	NXF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057684.1	NM_022052		35	54	0	0	0	0.812448	0	35	54				
CACNG3	10368	broad.mit.edu	37	16	24372780	24372780	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr16:24372780G>A	ENST00000005284.3	+	4	1746	c.544G>A	c.(544-546)Gga>Aga	p.G182R		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	182					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CTTTTATTTCGGAGCCTTCTC	0.453																																						ENST00000005284.3																			0				NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40						c.(544-546)Gga>Aga		calcium channel, voltage-dependent, gamma subunit 3							124.0	130.0	128.0					16																	24372780		2197	4300	6497	SO:0001583	missense	10368				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr16:24372780G>A	AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"""Calcium channel subunits"""	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.544G>A	16.37:g.24372780G>A	ENSP00000005284:p.Gly182Arg						p.G182R	NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN		GBM - Glioblastoma multiforme(48;0.0809)	4	1746	+			182						Missense_Mutation	SNP	ENST00000005284.3	37	c.544G>A	CCDS10620.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.734858	0.89482	.	.	ENSG00000006116	ENST00000005284	D	0.92099	-2.97	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.96565	0.8879	M	0.86573	2.825	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97289	0.9923	10	0.72032	D	0.01	-13.3439	17.8423	0.88718	0.0:0.0:1.0:0.0	.	182	O60359	CCG3_HUMAN	R	182	ENSP00000005284:G182R	ENSP00000005284:G182R	G	+	1	0	CACNG3	24280281	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	9.476000	0.97823	2.274000	0.75844	0.655000	0.94253	GGA		0.453	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539		26	119	0	0	0	0.693898	0	26	119				
VRK2	7444	broad.mit.edu	37	2	58311264	58311264	+	Silent	SNP	A	A	G			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr2:58311264A>G	ENST00000435505.2	+	6	922	c.177A>G	c.(175-177)gtA>gtG	p.V59V	VRK2_ENST00000440705.2_Silent_p.V36V|VRK2_ENST00000417641.2_Silent_p.V59V|VRK2_ENST00000412104.2_Silent_p.V59V|VRK2_ENST00000340157.4_Silent_p.V59V			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	59	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to oxidative stress (GO:0034599)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interleukin-1-mediated signaling pathway (GO:2000659)|regulation of MAPK cascade (GO:0043408)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						CAAGACATGTAGTAAAAGTGG	0.308																																						ENST00000435505.2																			0				endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						c.(175-177)gtA>gtG		vaccinia related kinase 2							146.0	149.0	148.0					2																	58311264		2203	4300	6503	SO:0001819	synonymous_variant	7444					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:58311264A>G	AK058199	CCDS1859.1, CCDS46291.1, CCDS46292.1	2p16.1	2008-05-15			ENSG00000028116	ENSG00000028116			12719	protein-coding gene	gene with protein product		602169					Standard	NM_001130480		Approved		uc002rzv.3	Q86Y07	OTTHUMG00000129348	ENST00000435505.2:c.177A>G	2.37:g.58311264A>G						VRK2_ENST00000417641.2_Silent_p.V59V|VRK2_ENST00000340157.4_Silent_p.V59V|VRK2_ENST00000440705.2_Silent_p.V36V|VRK2_ENST00000412104.2_Silent_p.V59V	p.V59V			Q86Y07	VRK2_HUMAN			6	922	+			59			Protein kinase.		B4DKL0|D6W5D4|D6W5D6|Q49AK9|Q53EU9|Q53S39|Q53S77|Q53TU1|Q86Y08|Q86Y09|Q86Y10|Q86Y11|Q86Y12|Q8IXI5|Q99987	Silent	SNP	ENST00000435505.2	37	c.177A>G	CCDS1859.1																																																																																				0.308	VRK2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325304.2	NM_006296		12	36	0	0	0	0.457914	0	12	36				
DNAJB7	150353	broad.mit.edu	37	22	41257198	41257198	+	Silent	SNP	C	C	T			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr22:41257198C>T	ENST00000307221.4	-	1	932	c.801G>A	c.(799-801)gaG>gaA	p.E267E	XPNPEP3_ENST00000544094.1_5'Flank|XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000482652.1_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	267							chaperone binding (GO:0051087)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						ATATACCTCCCTCATCATTGT	0.423																																						ENST00000307221.4																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(799-801)gaG>gaA		DnaJ (Hsp40) homolog, subfamily B, member 7							129.0	121.0	123.0					22																	41257198		2203	4300	6503	SO:0001819	synonymous_variant	150353				protein folding		heat shock protein binding|unfolded protein binding	g.chr22:41257198C>T	AF085232	CCDS14008.1	22q13.2	2011-09-02			ENSG00000172404	ENSG00000172404		"""Heat shock proteins / DNAJ (HSP40)"""	24986	protein-coding gene	gene with protein product		611336				12477932	Standard	NM_145174		Approved	HSC3	uc003azj.3	Q7Z6W7	OTTHUMG00000151202	ENST00000307221.4:c.801G>A	22.37:g.41257198C>T						XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000482652.1_Intron|XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000357137.4_Intron	p.E267E	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN			1	932	-			267					Q2M220|Q5H904|Q8WYJ7	Silent	SNP	ENST00000307221.4	37	c.801G>A	CCDS14008.1																																																																																				0.423	DNAJB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321765.1	NM_145174		13	85	0	0	0	0.435327	0	13	85				
HAL	3034	broad.mit.edu	37	12	96389484	96389484	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr12:96389484G>A	ENST00000261208.3	-	2	573	c.205C>T	c.(205-207)Cgg>Tgg	p.R69W	HAL_ENST00000541929.1_5'UTR|RP11-256L6.3_ENST00000551849.1_RNA|HAL_ENST00000538703.1_Missense_Mutation_p.R69W	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	69					biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	histidine ammonia-lyase activity (GO:0004397)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	ACCTCGAGCCGGTCCTCGTTG	0.612																																					NSCLC(169;943 2815 23563 30031)	ENST00000261208.3																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34						c.(205-207)Cgg>Tgg		histidine ammonia-lyase	L-Histidine(DB00117)						59.0	52.0	55.0					12																	96389484		2203	4298	6501	SO:0001583	missense	3034				biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity	g.chr12:96389484G>A		CCDS9058.1, CCDS58264.1, CCDS58265.1	12q22-q24.1	1991-07-12				ENSG00000084110	4.3.1.3		4806	protein-coding gene	gene with protein product		609457		HIS			Standard	NM_002108		Approved		uc001tem.2	P42357	OTTHUMG00000170354	ENST00000261208.3:c.205C>T	12.37:g.96389484G>A	ENSP00000261208:p.Arg69Trp					HAL_ENST00000541929.1_5'UTR|HAL_ENST00000538703.1_Missense_Mutation_p.R69W	p.R69W	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN			2	573	-			69					B4DQC1|B4E0V8|F5GXF2|F5H1U5|Q4VB92|Q4VB93	Missense_Mutation	SNP	ENST00000261208.3	37	c.205C>T	CCDS9058.1	.	.	.	.	.	.	.	.	.	.	G	9.703	1.155091	0.21371	.	.	ENSG00000084110	ENST00000261208;ENST00000538703;ENST00000552509	T;T;D	0.86030	-1.06;-1.06;-2.06	5.29	-0.128	0.13506	.	1.008340	0.07951	N	0.980828	T	0.69433	0.3110	N	0.14661	0.345	0.39529	D	0.96863	P;P	0.37864	0.61;0.536	B;B	0.36885	0.235;0.036	T	0.60737	-0.7204	10	0.66056	D	0.02	0.1674	1.5693	0.02612	0.1477:0.1902:0.2991:0.3631	.	69;69	F5GXF2;P42357	.;HUTH_HUMAN	W	69	ENSP00000261208:R69W;ENSP00000440861:R69W;ENSP00000450372:R69W	ENSP00000261208:R69W	R	-	1	2	HAL	94913615	0.030000	0.19436	0.047000	0.18901	0.017000	0.09413	0.228000	0.17814	-0.207000	0.10187	0.561000	0.74099	CGG		0.612	HAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408644.1			6	25	0	0	0	0.217242	0	6	25				
KRTAP10-12	386685	broad.mit.edu	37	21	46117735	46117735	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr21:46117735C>T	ENST00000400365.3	+	1	649	c.619C>T	c.(619-621)Cgc>Tgc	p.R207C	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	207	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(8)	9						CAGACCCGCCCGCCGCGTGCC	0.716																																						ENST00000400365.3																			0				large_intestine(1)|lung(8)	9						c.(619-621)Cgc>Tgc		keratin associated protein 10-12							57.0	71.0	66.0					21																	46117735		2201	4295	6496	SO:0001583	missense	386685					keratin filament		g.chr21:46117735C>T	AB076364	CCDS42967.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000189169	ENSG00000189169		"""Keratin associated proteins"""	20533	protein-coding gene	gene with protein product			"""keratin associated protein 18-12"""	KRTAP18-12			Standard	NM_198699		Approved	KRTAP18.12, KAP10.12	uc002zfw.1	P60413	OTTHUMG00000057629	ENST00000400365.3:c.619C>T	21.37:g.46117735C>T	ENSP00000383216:p.Arg207Cys					TSPEAR_ENST00000323084.4_Intron	p.R207C	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN			1	649	+			207			19 X 5 AA repeats of C-C-X(3).		B2RPA3	Missense_Mutation	SNP	ENST00000400365.3	37	c.619C>T	CCDS42967.1	.	.	.	.	.	.	.	.	.	.	c	0.004	-2.242233	0.00274	.	.	ENSG00000189169	ENST00000400365	T	0.00682	5.86	2.6	1.38	0.22167	.	.	.	.	.	T	0.00178	0.0005	N	0.00010	-3.025	0.32985	D	0.524247	B	0.02656	0.0	B	0.01281	0.0	T	0.27088	-1.0084	9	0.02654	T	1	.	6.1276	0.20187	0.0:0.1422:0.0:0.8578	.	207	P60413	KR10C_HUMAN	C	207	ENSP00000383216:R207C	ENSP00000383216:R207C	R	+	1	0	KRTAP10-12	44942163	0.960000	0.32886	0.950000	0.38849	0.002000	0.02628	1.147000	0.31602	0.065000	0.16485	-1.054000	0.02325	CGC		0.716	KRTAP10-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128032.1	NM_198699		21	60	0	0	0	0.654019	0	21	60				
GIMAP5	55340	broad.mit.edu	37	7	150439615	150439615	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr7:150439615G>A	ENST00000358647.3	+	3	755	c.388G>A	c.(388-390)Gcc>Acc	p.A130T	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2	Q96F15	GIMA5_HUMAN	GTPase, IMAP family member 5	130	AIG1-type G.				myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell activation (GO:0050868)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of membrane potential (GO:0045838)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of mitochondrial membrane permeability (GO:0046902)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|temperature homeostasis (GO:0001659)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGACACAGTGGCCATCAGGAA	0.592																																						ENST00000358647.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19						c.(388-390)Gcc>Acc		GTPase, IMAP family member 5							82.0	80.0	81.0					7																	150439615		2203	4300	6503	SO:0001583	missense	55340							g.chr7:150439615G>A	AK002158	CCDS5907.1	7q36.1	2014-04-04	2004-10-29	2004-10-30	ENSG00000196329	ENSG00000196329		"""GTPases, IMAP"""	18005	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 5"""	608086	"""immune associated nucleotide 4 like 1 (mouse)"""	IAN4L1			Standard	NM_018384		Approved	HIMAP3, IAN5		Q96F15	OTTHUMG00000157542	ENST00000358647.3:c.388G>A	7.37:g.150439615G>A	ENSP00000351473:p.Ala130Thr					GIMAP5_ENST00000479556.1_3'UTR	p.A130T	NM_018384.4	NP_060854.2			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	755	+								D3DWZ5|Q6IA75|Q96NE4|Q9NUK9	Missense_Mutation	SNP	ENST00000358647.3	37	c.388G>A	CCDS5907.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.862458	0.32884	.	.	ENSG00000196329	ENST00000358647;ENST00000447239	T	0.34472	1.36	4.15	4.15	0.48705	AIG1 (1);	0.059327	0.64402	D	0.000001	T	0.44393	0.1291	L	0.39020	1.185	0.09310	N	1	D	0.89917	1.0	D	0.76575	0.988	T	0.24190	-1.0167	10	0.15499	T	0.54	.	11.7844	0.52034	0.0:0.0:1.0:0.0	.	130	Q96F15	GIMA5_HUMAN	T	130;166	ENSP00000351473:A130T	ENSP00000351473:A130T	A	+	1	0	GIMAP5	150070548	0.015000	0.18098	0.484000	0.27391	0.055000	0.15305	1.473000	0.35387	2.143000	0.66587	0.655000	0.94253	GCC		0.592	GIMAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349108.2	NM_018384		63	65	0	0	0	0.870114	0	63	65				
PRKDC	5591	broad.mit.edu	37	8	48744441	48744441	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr8:48744441C>A	ENST00000314191.2	-	61	8252	c.8196G>T	c.(8194-8196)atG>atT	p.M2732I	PRKDC_ENST00000338368.3_Missense_Mutation_p.M2732I|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2733	KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CCTGGTCCCTCATAAACCGTC	0.542								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(8194-8196)atG>atT	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							197.0	199.0	199.0					8																	48744441		1977	4169	6146	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48744441C>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.8196G>T	8.37:g.48744441C>A	ENSP00000313420:p.Met2732Ile					PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.M2732I	p.M2732I	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			61	8252	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2733			KIP-binding.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.8196G>T		.	.	.	.	.	.	.	.	.	.	C	4.933	0.173270	0.09391	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02140	4.5;4.43	5.41	3.03	0.35002	.	0.315219	0.25642	N	0.029267	T	0.00936	0.0031	N	0.01352	-0.895	0.25509	N	0.987473	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47736	-0.9094	10	0.31617	T	0.26	.	6.5663	0.22513	0.0:0.1435:0.1308:0.7257	.	2732;2733	E7EUY0;P78527	.;PRKDC_HUMAN	I	2732	ENSP00000313420:M2732I;ENSP00000345182:M2732I	ENSP00000313420:M2732I	M	-	3	0	PRKDC	48906994	1.000000	0.71417	1.000000	0.80357	0.001000	0.01503	0.658000	0.24979	0.446000	0.26666	-1.058000	0.02302	ATG		0.542	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		26	154	1	0	6.07407e-21	0.717897	6.74897e-21	26	154				
TRPV2	51393	broad.mit.edu	37	17	16336965	16336965	+	Silent	SNP	C	C	T	rs574911734	byFrequency	TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr17:16336965C>T	ENST00000338560.7	+	13	2466	c.2067C>T	c.(2065-2067)acC>acT	p.T689T	TRPV2_ENST00000577397.1_Silent_p.T259T	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	689					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TGATGCTGACCGTTGGCACTA	0.587													C|||	2	0.000399361	0.0	0.0	5008	,	,		20887	0.002		0.0	False		,,,				2504	0.0					ENST00000338560.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28						c.(2065-2067)acC>acT		transient receptor potential cation channel, subfamily V, member 2							144.0	124.0	131.0					17																	16336965		2203	4300	6503	SO:0001819	synonymous_variant	51393				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	g.chr17:16336965C>T	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.2067C>T	17.37:g.16336965C>T						TRPV2_ENST00000577397.1_Silent_p.T259T	p.T689T	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	13	2466	+			689					A6NML2|A8K0Z0|Q9Y670	Silent	SNP	ENST00000338560.7	37	c.2067C>T	CCDS32576.1																																																																																				0.587	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		17	71	0	0	0	0.520397	0	17	71				
TICAM1	148022	broad.mit.edu	37	19	4817206	4817206	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr19:4817206T>C	ENST00000248244.5	-	2	1413	c.1184A>G	c.(1183-1185)tAt>tGt	p.Y395C		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	395	TIR.				apoptotic signaling pathway (GO:0097190)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of protein homodimerization activity (GO:0043496)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|ripoptosome (GO:0097342)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CACAAAGTTATAGAATTTCTG	0.592																																						ENST00000248244.5																			0				NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26						c.(1183-1185)tAt>tGt		toll-like receptor adaptor molecule 1							43.0	45.0	44.0					19																	4817206		2203	4300	6503	SO:0001583	missense	148022				apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity	g.chr19:4817206T>C	AB086380	CCDS12136.1	19p13.3	2014-09-17				ENSG00000127666			18348	protein-coding gene	gene with protein product		607601				12539043, 12471095	Standard	NM_182919		Approved	TRIF, TICAM-1, MGC35334, PRVTIRB	uc002mbi.4	Q8IUC6		ENST00000248244.5:c.1184A>G	19.37:g.4817206T>C	ENSP00000248244:p.Tyr395Cys						p.Y395C	NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)	2	1413	-			395			TIR.		B3Y691|O75532|Q86XP8|Q96GA0	Missense_Mutation	SNP	ENST00000248244.5	37	c.1184A>G	CCDS12136.1	.	.	.	.	.	.	.	.	.	.	T	17.40	3.381202	0.61845	.	.	ENSG00000127666	ENST00000248244	T	0.03772	3.81	4.42	1.88	0.25563	.	0.240225	0.21571	N	0.072406	T	0.09862	0.0242	L	0.46157	1.445	0.39600	D	0.969719	D	0.67145	0.996	P	0.57371	0.819	T	0.08513	-1.0718	10	0.87932	D	0	-13.2331	7.6923	0.28575	0.5778:0.0:0.0:0.4222	.	395	Q8IUC6	TCAM1_HUMAN	C	395	ENSP00000248244:Y395C	ENSP00000248244:Y395C	Y	-	2	0	TICAM1	4768206	1.000000	0.71417	0.998000	0.56505	0.758000	0.43043	3.231000	0.51294	0.628000	0.30357	0.260000	0.18958	TAT		0.592	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450435.1	NM_014261		23	25	0	0	0	0.608945	0	23	25				
OR10H5	284433	broad.mit.edu	37	19	15905003	15905003	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr19:15905003G>C	ENST00000308940.8	+	1	243	c.145G>C	c.(145-147)Gtc>Ctc	p.V49L		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	49						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						CATGGCCACTGTCTGGAGCGA	0.597																																						ENST00000308940.8																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						c.(145-147)Gtc>Ctc		olfactory receptor, family 10, subfamily H, member 5							206.0	166.0	180.0					19																	15905003		2203	4300	6503	SO:0001583	missense	284433				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15905003G>C	AC011537	CCDS32940.1	19p13.12	2013-09-24			ENSG00000172519	ENSG00000172519		"""GPCR / Class A : Olfactory receptors"""	15389	protein-coding gene	gene with protein product							Standard	NM_001004466		Approved		uc010xos.2	Q8NGA6	OTTHUMG00000182284	ENST00000308940.8:c.145G>C	19.37:g.15905003G>C	ENSP00000310704:p.Val49Leu						p.V49L	NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN			1	243	+			49					Q6IFJ0|Q96R60	Missense_Mutation	SNP	ENST00000308940.8	37	c.145G>C	CCDS32940.1	.	.	.	.	.	.	.	.	.	.	.	6.330	0.429056	0.11987	.	.	ENSG00000172519	ENST00000308940	T	0.03124	4.04	3.47	-5.64	0.02466	GPCR, rhodopsin-like superfamily (1);	0.944616	0.08714	N	0.904490	T	0.06005	0.0156	M	0.66506	2.035	0.09310	N	1	B	0.25206	0.12	B	0.29176	0.099	T	0.28106	-1.0054	10	0.72032	D	0.01	.	11.899	0.52671	0.3843:0.0:0.6157:0.0	.	49	Q8NGA6	O10H5_HUMAN	L	49	ENSP00000310704:V49L	ENSP00000310704:V49L	V	+	1	0	OR10H5	15766003	0.000000	0.05858	0.001000	0.08648	0.160000	0.22226	-0.297000	0.08276	-1.354000	0.02188	-0.966000	0.02617	GTC		0.597	OR10H5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460363.1			6	75	0	0	0	0.248553	0	6	75				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657872	72657872	+	RNA	SNP	G	G	A	rs536536298	byFrequency	TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr7:72657872G>A	ENST00000425256.1	-	0	2039									GTF2I repeat domain containing 2 pseudogene 1																		cagatgcatcgtcatgtcaac	0.498													G|||	9	0.00179712	0.0061	0.0014	5008	,	,		19293	0.0		0.0	False		,,,				2504	0.0					ENST00000425256.1																			0																																																			0							g.chr7:72657872G>A	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72657872G>A								NR_002164.1						0	2039	-									RNA	SNP	ENST00000425256.1	37																																																																																						0.498	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		4	133	0	0	0	0.150653	0	4	133				
PER1	5187	broad.mit.edu	37	17	8054005	8054005	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr17:8054005C>T	ENST00000317276.4	-	2	257	c.20G>A	c.(19-21)gGg>gAg	p.G7E	PER1_ENST00000581082.1_Missense_Mutation_p.G7E|PER1_ENST00000354903.5_Intron	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	7	Interaction with BTRC. {ECO:0000269|PubMed:15917222}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCCATCAGCCCCTTCTAGGGG	0.677			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																														ENST00000317276.4				Dom	yes		17	17p13.1-17p12	5187	T	period homolog 1 (Drosophila)			L	ETV6		"""AML, CMML"""		0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(19-21)gGg>gAg	Other conserved DNA damage response genes	period circadian clock 1							23.0	27.0	26.0					17																	8054005		2198	4292	6490	SO:0001583	missense	5187				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr17:8054005C>T	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.20G>A	17.37:g.8054005C>T	ENSP00000314420:p.Gly7Glu					PER1_ENST00000581082.1_Missense_Mutation_p.G7E|PER1_ENST00000354903.5_Intron	p.G7E	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN			2	257	-			7					B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	37	c.20G>A	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803493	0.70682	.	.	ENSG00000179094	ENST00000317276	T	0.15952	2.38	5.38	5.38	0.77491	.	0.243286	0.34828	N	0.003658	T	0.14013	0.0339	N	0.19112	0.55	0.80722	D	1	B;B	0.16396	0.017;0.006	B;B	0.15870	0.005;0.014	T	0.04440	-1.0951	10	0.72032	D	0.01	-20.3712	16.6229	0.84934	0.0:1.0:0.0:0.0	.	7;7	Q6IN51;O15534	.;PER1_HUMAN	E	7	ENSP00000314420:G7E	ENSP00000314420:G7E	G	-	2	0	PER1	7994730	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	0.857000	0.27831	2.528000	0.85240	0.563000	0.77884	GGG		0.677	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			5	23	0	0	0	0.184627	0	5	23				
LETMD1	25875	broad.mit.edu	37	12	51450230	51450230	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr12:51450230A>G	ENST00000262055.4	+	7	899	c.860A>G	c.(859-861)gAc>gGc	p.D287G	LETMD1_ENST00000548516.1_3'UTR|LETMD1_ENST00000380123.2_3'UTR|LETMD1_ENST00000418425.2_Missense_Mutation_p.D300G|LETMD1_ENST00000552739.1_Missense_Mutation_p.D170G|LETMD1_ENST00000547008.1_Missense_Mutation_p.D163G|LETMD1_ENST00000550929.1_Missense_Mutation_p.D231G	NM_015416.4	NP_056231.3	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	287	LETM1.					integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						CACCAACTGGACAAGGCTTTG	0.498																																						ENST00000418425.2																			0				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						c.(898-900)gAc>gGc		LETM1 domain containing 1							124.0	113.0	116.0					12																	51450230		2203	4300	6503	SO:0001583	missense	25875					integral to membrane|mitochondrial outer membrane	protein binding	g.chr12:51450230A>G	AF195651	CCDS8806.1, CCDS58231.1, CCDS73469.1	12q13.13	2006-04-12				ENSG00000050426			24241	protein-coding gene	gene with protein product	"""cervical cancer 1 protooncogene"""					12879013, 12061725	Standard	NM_015416		Approved	HCCR1	uc009zlw.3	Q6P1Q0	OTTHUMG00000169538	ENST00000262055.4:c.860A>G	12.37:g.51450230A>G	ENSP00000262055:p.Asp287Gly					LETMD1_ENST00000262055.4_Missense_Mutation_p.D287G|LETMD1_ENST00000552739.1_Missense_Mutation_p.D170G|LETMD1_ENST00000550929.1_Missense_Mutation_p.D231G|LETMD1_ENST00000548516.1_3'UTR|LETMD1_ENST00000547008.1_Missense_Mutation_p.D163G|LETMD1_ENST00000380123.2_3'UTR	p.D300G	NM_001243689.1	NP_001230618.1	Q6P1Q0	LTMD1_HUMAN			7	918	+			287			LETM1.		A6NER7|B3KXK7|Q6X2E4|Q6X2E5|Q7L2G9|Q7L690|Q8WXW6|Q96PK7|Q9BY59|Q9Y3X3	Missense_Mutation	SNP	ENST00000262055.4	37	c.899A>G	CCDS8806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.67|15.67	2.902535|2.902535	0.52227|0.52227	.|.	.|.	ENSG00000050426|ENSG00000050426	ENST00000551477;ENST00000550929;ENST00000262055;ENST00000549340;ENST00000548251;ENST00000550814;ENST00000547660;ENST00000418425;ENST00000448283;ENST00000547008;ENST00000552739;ENST00000547256|ENST00000551931	T;T;T;T;T;T;T;T;T|.	0.72615|.	-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67|.	5.49|5.49	5.49|5.49	0.81192|0.81192	LETM1-like (1);|.	0.093721|.	0.64402|.	D|.	0.000001|.	T|T	0.72309|0.72309	0.3444|0.3444	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;0.999;1.0;1.0|.	D;D;D;D;D|.	0.97110|.	0.998;1.0;0.998;1.0;1.0|.	T|T	0.72047|0.72047	-0.4408|-0.4408	10|5	0.87932|.	D|.	0|.	-13.1279|-13.1279	14.8941|14.8941	0.70630|0.70630	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	237;300;163;170;287|.	F8VVQ3;B3KXK7;F8W1Z2;F8VP71;Q6P1Q0|.	.;.;.;.;LTMD1_HUMAN|.	G|A	254;231;287;237;170;95;42;300;237;163;170;69|71	ENSP00000446862:D254G;ENSP00000450163:D231G;ENSP00000262055:D287G;ENSP00000449896:D237G;ENSP00000447166:D170G;ENSP00000450391:D42G;ENSP00000389903:D300G;ENSP00000447419:D163G;ENSP00000450333:D170G|.	ENSP00000262055:D287G|.	D|T	+|+	2|1	0|0	LETMD1|LETMD1	49736497|49736497	1.000000|1.000000	0.71417|0.71417	0.882000|0.882000	0.34594|0.34594	0.017000|0.017000	0.09413|0.09413	6.466000|6.466000	0.73543|0.73543	2.225000|2.225000	0.72522|0.72522	0.533000|0.533000	0.62120|0.62120	GAC|ACA		0.498	LETMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404710.1	NM_015416		4	117	0	0	0	0.184627	0	4	117				
SMC2	10592	broad.mit.edu	37	9	106860785	106860785	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr9:106860785G>C	ENST00000286398.7	+	4	665	c.377G>C	c.(376-378)aGa>aCa	p.R126T	SMC2_ENST00000303219.8_Missense_Mutation_p.R126T|SMC2_ENST00000374793.3_Missense_Mutation_p.R126T|SMC2_ENST00000374787.3_Missense_Mutation_p.R126T	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	126					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						AACAACACCAGAGTACAGGAT	0.338																																						ENST00000286398.7																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						c.(376-378)aGa>aCa		structural maintenance of chromosomes 2							190.0	181.0	184.0					9																	106860785		2203	4299	6502	SO:0001583	missense	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106860785G>C	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.377G>C	9.37:g.106860785G>C	ENSP00000286398:p.Arg126Thr					SMC2_ENST00000303219.8_Missense_Mutation_p.R126T|SMC2_ENST00000374793.3_Missense_Mutation_p.R126T|SMC2_ENST00000374787.3_Missense_Mutation_p.R126T	p.R126T	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN			4	665	+			126					Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	c.377G>C	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.980492	0.92982	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000536893;ENST00000374787	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	5.76	5.76	0.90799	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.76054	0.3934	L	0.39692	1.235	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.985;0.999	D;P;D	0.81914	0.988;0.9;0.995	T	0.71397	-0.4605	10	0.32370	T	0.25	-23.9643	18.9014	0.92444	0.0:0.0:1.0:0.0	.	126;126;126	A8K984;O95347;Q2KQ72	.;SMC2_HUMAN;.	T	126	ENSP00000286398:R126T;ENSP00000363925:R126T;ENSP00000306152:R126T;ENSP00000363919:R126T	ENSP00000286398:R126T	R	+	2	0	SMC2	105900606	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.691000	0.98679	2.882000	0.98803	0.655000	0.94253	AGA		0.338	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			6	113	0	0	0	0.248553	0	6	113				
COPA	1314	broad.mit.edu	37	1	160268752	160268752	+	Silent	SNP	T	T	C			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr1:160268752T>C	ENST00000241704.7	-	19	2089	c.1860A>G	c.(1858-1860)ctA>ctG	p.L620L	COPA_ENST00000368069.3_Silent_p.L629L	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	620					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACTGGCCAACTAGTTTGGCAT	0.443																																						ENST00000241704.7																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46						c.(1858-1860)ctA>ctG		coatomer protein complex, subunit alpha							144.0	140.0	142.0					1																	160268752		2203	4300	6503	SO:0001819	synonymous_variant	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160268752T>C	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.1860A>G	1.37:g.160268752T>C						COPA_ENST00000368069.3_Silent_p.L629L	p.L620L	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		19	2089	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		620					Q5T201|Q8IXZ9	Silent	SNP	ENST00000241704.7	37	c.1860A>G	CCDS1202.1																																																																																				0.443	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		16	62	0	0	0	0.539581	0	16	62				
DONSON	29980	broad.mit.edu	37	21	34958408	34958408	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr21:34958408G>A	ENST00000303071.5	-	3	548	c.482C>T	c.(481-483)aCg>aTg	p.T161M	DONSON_ENST00000303113.6_Missense_Mutation_p.T161M|DONSON_ENST00000432378.1_Missense_Mutation_p.T161M|AP000304.12_ENST00000429238.1_Silent_p.N122N|DONSON_ENST00000453626.1_Missense_Mutation_p.T161M	NM_017613.3	NP_060083.1	Q9NYP3	DONS_HUMAN	downstream neighbor of SON	161					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						AAGGAGTCGCGTTTTAATACT	0.433											OREG0003565	type=REGULATORY REGION|Gene=DONSON|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000453626.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						c.(481-483)aCg>aTg		downstream neighbor of SON							92.0	79.0	83.0					21																	34958408		2203	4300	6503	SO:0001583	missense	29980				multicellular organismal development	nucleus		g.chr21:34958408G>A	AF000002	CCDS13632.1	21q22.1	2008-07-31			ENSG00000159147	ENSG00000159147			2993	protein-coding gene	gene with protein product		611428		C21orf60		10773462, 10950926	Standard	NM_017613		Approved	B17, C2TA, DKFZP434M035	uc002ysk.4	Q9NYP3	OTTHUMG00000065904	ENST00000303071.5:c.482C>T	21.37:g.34958408G>A	ENSP00000307143:p.Thr161Met		OREG0003565	type=REGULATORY REGION|Gene=DONSON|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	851	AP000304.12_ENST00000429238.1_Silent_p.N122N|DONSON_ENST00000432378.1_Missense_Mutation_p.T161M|DONSON_ENST00000303071.5_Missense_Mutation_p.T161M|DONSON_ENST00000303113.6_Missense_Mutation_p.T161M	p.T161M			Q9NYP3	DONS_HUMAN			3	486	-			161					Q8NC53|Q9NSR9|Q9NVZ5|Q9NYP1|Q9NYP2	Missense_Mutation	SNP	ENST00000303071.5	37	c.482C>T	CCDS13632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.8|25.8	4.671679|4.671679	0.88348|0.88348	.|.	.|.	ENSG00000159147|ENSG00000159147	ENST00000437395|ENST00000303113;ENST00000453626;ENST00000303071;ENST00000432378	.|.	.|.	.|.	5.9|5.9	5.01|5.01	0.66863|0.66863	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84401|0.84401	0.5464|0.5464	M|M	0.86420|0.86420	2.815|2.815	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.85130	.|0.997;0.996;0.997	D|D	0.87750|0.87750	0.2591|0.2591	5|9	.|0.87932	.|D	.|0	-25.2461|-25.2461	17.1584|17.1584	0.86797|0.86797	0.0:0.1263:0.8737:0.0|0.0:0.1263:0.8737:0.0	.|.	.|161;161;161	.|F8W8A5;C9J4K5;Q9NYP3	.|.;.;DONS_HUMAN	C|M	132|161	.|.	.|ENSP00000307143:T161M	R|T	-|-	1|2	0|0	DONSON|DONSON	33880278|33880278	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.973000|0.973000	0.67179|0.67179	9.511000|9.511000	0.98006|0.98006	1.478000|1.478000	0.48253|0.48253	0.563000|0.563000	0.77884|0.77884	CGC|ACG		0.433	DONSON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141184.1	NM_017613		8	58	0	0	0	0.278610	0	8	58				
PCDH15	65217	broad.mit.edu	37	10	55569195	55569195	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr10:55569195T>C	ENST00000395445.1	-	36	5009	c.4615A>G	c.(4615-4617)Aca>Gca	p.T1539A	PCDH15_ENST00000395442.1_Missense_Mutation_p.T404A|PCDH15_ENST00000395446.1_Missense_Mutation_p.T735A|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395440.1_Missense_Mutation_p.T473A|PCDH15_ENST00000409834.1_3'UTR	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTCTTCCATGTTGTGTATGTA	0.403										HNSCC(58;0.16)																												ENST00000395445.1																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(4615-4617)Aca>Gca		protocadherin-related 15							183.0	172.0	175.0					10																	55569195		1568	3582	5150	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55569195T>C	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000395445.1:c.4615A>G	10.37:g.55569195T>C	ENSP00000378832:p.Thr1539Ala	HNSCC(58;0.16)				PCDH15_ENST00000395446.1_Missense_Mutation_p.T735A|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395440.1_Missense_Mutation_p.T473A|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000395442.1_Missense_Mutation_p.T404A	p.T1539A	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN			36	5009	-		Melanoma(3;0.117)|Lung SC(717;0.238)	0					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000395445.1	37	c.4615A>G		.	.	.	.	.	.	.	.	.	.	T	13.06	2.124096	0.37533	.	.	ENSG00000150275	ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440	T;T;T;T	0.59638	0.25;0.38;0.6;0.49	5.88	3.55	0.40652	.	.	.	.	.	T	0.33469	0.0864	N	0.14661	0.345	0.35444	D	0.795165	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.24657	-1.0154	9	0.16896	T	0.51	.	5.4572	0.16598	0.0:0.1538:0.2418:0.6044	.	1537;1539	C6ZEF5;A2A3E2	.;.	A	1539;735;404;473	ENSP00000378832:T1539A;ENSP00000378833:T735A;ENSP00000378829:T404A;ENSP00000378827:T473A	ENSP00000378827:T473A	T	-	1	0	PCDH15	55239201	0.002000	0.14202	0.056000	0.19401	0.933000	0.57130	0.029000	0.13666	1.060000	0.40578	0.533000	0.62120	ACA		0.403	PCDH15-007	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000291335.1	NM_033056		8	137	0	0	0	0.335167	0	8	137				
TNXB	7148	broad.mit.edu	37	6	32030161	32030161	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr6:32030161G>A	ENST00000375244.3	-	20	7142	c.6941C>T	c.(6940-6942)gCg>gTg	p.A2314V	TNXB_ENST00000375247.2_Missense_Mutation_p.A2314V			P22105	TENX_HUMAN	tenascin XB	2376	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GTCAGGGGTCGCATCTGTCAC	0.612																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(6940-6942)gCg>gTg		tenascin XB							50.0	57.0	55.0					6																	32030161		1372	2590	3962	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32030161G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.6941C>T	6.37:g.32030161G>A	ENSP00000364393:p.Ala2314Val					TNXB_ENST00000375247.2_Missense_Mutation_p.A2314V	p.A2314V			P22105	TENX_HUMAN			20	7142	-			2376			Fibronectin type-III 15.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.6941C>T		.	.	.	.	.	.	.	.	.	.	G	0.008	-1.897631	0.00517	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.53423	0.62;0.62	4.48	2.7	0.31948	.	1.206500	0.05946	N	0.638009	T	0.09730	0.0239	N	0.20357	0.565	0.09310	N	1	P	0.45715	0.865	B	0.39152	0.292	T	0.07139	-1.0788	10	0.02654	T	1	.	6.8044	0.23768	0.298:0.0:0.702:0.0	.	2314	P22105-3	.	V	2314	ENSP00000364393:A2314V;ENSP00000364396:A2314V	ENSP00000364393:A2314V	A	-	2	0	TNXB	32138139	0.000000	0.05858	0.420000	0.26596	0.016000	0.09150	-0.151000	0.10175	0.344000	0.23847	-0.997000	0.02515	GCG		0.612	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		3	26	0	0	0	0.115264	0	3	26				
ART3	419	broad.mit.edu	37	4	77018807	77018807	+	Silent	SNP	C	C	T			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr4:77018807C>T	ENST00000355810.4	+	4	911	c.792C>T	c.(790-792)acC>acT	p.T264T	AC112719.1_ENST00000582318.1_RNA|ART3_ENST00000513494.1_3'UTR|ART3_ENST00000341029.5_Silent_p.T264T|ART3_ENST00000349321.3_Silent_p.T264T	NM_001130016.2	NP_001123488.1	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3	264					protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GACTAAAAACCGAAAACTGTA	0.328																																						ENST00000355810.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16						c.(790-792)acC>acT		ADP-ribosyltransferase 3							89.0	102.0	98.0					4																	77018807		2203	4299	6502	SO:0001819	synonymous_variant	419				protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity	g.chr4:77018807C>T	X95827	CCDS3575.1, CCDS47079.1, CCDS47080.1	4q21.1	2008-05-15			ENSG00000156219	ENSG00000156219			725	protein-coding gene	gene with protein product		603086				9119374	Standard	NM_001130017		Approved		uc003hjo.3	Q13508	OTTHUMG00000130110	ENST00000355810.4:c.792C>T	4.37:g.77018807C>T						ART3_ENST00000349321.3_Silent_p.T264T|ART3_ENST00000341029.5_Silent_p.T264T|ART3_ENST00000513494.1_3'UTR	p.T264T	NM_001130016.2	NP_001123488.1	Q13508	NAR3_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		4	911	+			264					Q53XW3|Q6FHT7|Q8WVJ7|Q93069|Q96HL1	Silent	SNP	ENST00000355810.4	37	c.792C>T	CCDS47079.1																																																																																				0.328	ART3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252416.2	NM_001179		21	53	0	0	0	0.592651	0	21	53				
GGT3P	2679	broad.mit.edu	37	22	18778652	18778652	+	RNA	SNP	C	C	T	rs373293036	byFrequency	TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr22:18778652C>T	ENST00000412448.1	-	0	753							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										CCTTGGAGGCCGAGGGCAGCC	0.632													c|||	4	0.000798722	0.0	0.0	5008	,	,		40971	0.001		0.003	False		,,,				2504	0.0					ENST00000412448.1																			0																																																			0							g.chr22:18778652C>T			22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18778652C>T														0	753	-									RNA	SNP	ENST00000412448.1	37																																																																																						0.632	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341281.1	NR_003267		3	3	0	0	0	0.184627	0	3	3				
EPPK1	83481	broad.mit.edu	37	8	144945366	144945366	+	Missense_Mutation	SNP	G	G	A	rs376915151		TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr8:144945366G>A	ENST00000525985.1	-	2	2127	c.2056C>T	c.(2056-2058)Cgc>Tgc	p.R686C				P58107	EPIPL_HUMAN	epiplakin 1	686						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTGACAGCGCGCTCAGCCGAC	0.617																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2056-2058)Cgc>Tgc		epiplakin 1		G	CYS/ARG	0,4366		0,0,2183	47.0	50.0	49.0		2056	3.1	0.9	8		49	1,8559		0,1,4279	no	missense	EPPK1	NM_031308.1	180	0,1,6462	AA,AG,GG		0.0117,0.0,0.0077	probably-damaging	686/2420	144945366	1,12925	2183	4280	6463	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144945366G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.2056C>T	8.37:g.144945366G>A	ENSP00000436337:p.Arg686Cys						p.R686C			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	2127	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		686					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.2056C>T		.	.	.	.	.	.	.	.	.	.	G	13.56	2.272461	0.40194	0.0	1.17E-4	ENSG00000227184	ENST00000525985	T	0.68765	-0.35	5.06	3.1	0.35709	.	.	.	.	.	T	0.78616	0.4311	M	0.79258	2.445	0.32698	N	0.513301	D	0.89917	1.0	D	0.65010	0.931	T	0.82965	-0.0195	9	0.87932	D	0	.	10.4647	0.44600	0.0:0.0:0.5239:0.4761	.	686	E9PPU0	.	C	686	ENSP00000436337:R686C	ENSP00000436337:R686C	R	-	1	0	EPPK1	145017354	0.962000	0.33011	0.938000	0.37757	0.010000	0.07245	1.471000	0.35365	1.355000	0.45865	0.655000	0.94253	CGC		0.617	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		8	27	0	0	0	0.307466	0	8	27				
FUBP1	8880	broad.mit.edu	37	1	78444686	78444686	+	Start_Codon_SNP	SNP	C	C	A			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr1:78444686C>A	ENST00000370768.2	-	1	84	c.3G>T	c.(1-3)atG>atT	p.M1I	FUBP1_ENST00000370767.1_Start_Codon_SNP_p.M1I|FUBP1_ENST00000436586.2_Start_Codon_SNP_p.M1I	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	1					positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						AATAGTCTGCCATGGTTGCAC	0.542			"""F, N"""		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"""F, N"""	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(1-3)atG>atT		far upstream element (FUSE) binding protein 1							29.0	31.0	30.0					1																	78444686		2202	4300	6502	SO:0001582	initiator_codon_variant	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78444686C>A	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.3G>T	1.37:g.78444686C>A	ENSP00000359804:p.Met1Ile					FUBP1_ENST00000436586.2_Start_Codon_SNP_p.M1I|FUBP1_ENST00000370768.2_Start_Codon_SNP_p.M1I	p.M1I			Q96AE4	FUBP1_HUMAN			1	90	-			1					Q12828	Translation_Start_Site	SNP	ENST00000370768.2	37	c.3G>T	CCDS683.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.293385	0.60086	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586;ENST00000421641	T;T;T;T	0.52295	1.38;1.37;1.31;0.67	5.23	5.23	0.72850	.	0.038922	0.85682	D	0.000000	T	0.43456	0.1248	.	.	.	0.80722	D	1	D;P	0.55385	0.971;0.618	P;B	0.45712	0.491;0.187	T	0.51834	-0.8655	9	0.87932	D	0	-8.0021	18.7318	0.91738	0.0:1.0:0.0:0.0	.	1;1	B4DT31;Q96AE4	.;FUBP1_HUMAN	I	1	ENSP00000359803:M1I;ENSP00000359804:M1I;ENSP00000389536:M1I;ENSP00000402630:M1I	ENSP00000294623:M1I	M	-	3	0	FUBP1	78217274	1.000000	0.71417	1.000000	0.80357	0.480000	0.33159	5.260000	0.65490	2.599000	0.87857	0.561000	0.74099	ATG		0.542	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902	Missense_Mutation	5	21	1	0	0.184627	0.184627	0.187757	5	21				
SLC20A1	6574	broad.mit.edu	37	2	113416617	113416617	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr2:113416617A>G	ENST00000272542.3	+	7	1533	c.994A>G	c.(994-996)Agg>Ggg	p.R332G	SLC20A1_ENST00000480984.1_3'UTR	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	332					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						AGAGAGAGAGAGGCTTCCCAG	0.517																																						ENST00000272542.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						c.(994-996)Agg>Ggg		solute carrier family 20 (phosphate transporter), member 1							75.0	73.0	74.0					2																	113416617		2203	4300	6503	SO:0001583	missense	6574				phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	g.chr2:113416617A>G		CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"""Solute carriers"""	10946	protein-coding gene	gene with protein product	"""gibbon ape leukemia virus receptor 1"""	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.994A>G	2.37:g.113416617A>G	ENSP00000272542:p.Arg332Gly					SLC20A1_ENST00000480984.1_3'UTR	p.R332G	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN			7	1533	+			332					Q08344|Q6DHX8|Q9UQ82	Missense_Mutation	SNP	ENST00000272542.3	37	c.994A>G	CCDS2099.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.22|14.22	2.471909|2.471909	0.43942|0.43942	.|.	.|.	ENSG00000144136|ENSG00000144136	ENST00000433924|ENST00000272542;ENST00000409095	.|D	.|0.90385	.|-2.66	5.9|5.9	-1.18|-1.18	0.09617|0.09617	.|.	.|0.229842	.|0.48767	.|D	.|0.000163	D|D	0.84147|0.84147	0.5408|0.5408	L|L	0.31926|0.31926	0.97|0.97	0.31198|0.31198	N|N	0.700178|0.700178	.|B;B	.|0.23490	.|0.086;0.086	.|B;B	.|0.24848	.|0.056;0.056	T|T	0.71629|0.71629	-0.4535|-0.4535	5|10	.|0.25106	.|T	.|0.35	-20.8497|-20.8497	16.4078|16.4078	0.83697|0.83697	0.3525:0.6475:0.0:0.0|0.3525:0.6475:0.0:0.0	.|.	.|332;332	.|A7LNJ1;Q8WUM9	.|.;S20A1_HUMAN	G|G	115|332;144	.|ENSP00000272542:R332G	.|ENSP00000272542:R332G	E|R	+|+	2|1	0|2	SLC20A1|SLC20A1	113133088|113133088	0.991000|0.991000	0.36638|0.36638	0.967000|0.967000	0.41034|0.41034	0.622000|0.622000	0.37654|0.37654	0.342000|0.342000	0.19926|0.19926	-0.410000|-0.410000	0.07542|0.07542	-0.258000|-0.258000	0.10820|0.10820	GAG|AGG		0.517	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254086.2	NM_005415		3	62	0	0	0	0.115264	0	3	62				
SPATA31D1	389763	broad.mit.edu	37	9	84606296	84606296	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr9:84606296T>A	ENST00000344803.2	+	4	958	c.911T>A	c.(910-912)tTa>tAa	p.L304*		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	304					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CCATCTGCTTTACCACCGGAA	0.468																																						ENST00000344803.2																			0											c.(910-912)tTa>tAa		SPATA31 subfamily D, member 1							278.0	239.0	252.0					9																	84606296		1983	4168	6151	SO:0001587	stop_gained	389763							g.chr9:84606296T>A		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.911T>A	9.37:g.84606296T>A	ENSP00000341988:p.Leu304*						p.L304*	NM_001001670.2	NP_001001670.1					4	958	+									Nonsense_Mutation	SNP	ENST00000344803.2	37	c.911T>A	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	T	15.31	2.795446	0.50208	.	.	ENSG00000214929	ENST00000344803	.	.	.	2.59	-3.32	0.04973	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	7.9804	0.30181	0.0:0.3188:0.0:0.6812	.	.	.	.	X	304	.	ENSP00000341988:L304X	L	+	2	0	FAM75D1	83796116	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	-0.079000	0.11357	-0.862000	0.04089	-0.925000	0.02716	TTA		0.468	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		58	216	0	0	0	0.870114	0	58	216				
SERPINI1	5274	broad.mit.edu	37	3	167508323	167508323	+	Silent	SNP	T	T	C			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr3:167508323T>C	ENST00000295777.5	+	3	845	c.414T>C	c.(412-414)caT>caC	p.H138H	SERPINI1_ENST00000446050.2_Silent_p.H138H	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	138					cell death (GO:0008219)|central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|peripheral nervous system development (GO:0007422)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						CAGTAAATCATGTGGACTTCA	0.363																																						ENST00000295777.5																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						c.(412-414)caT>caC		serpin peptidase inhibitor, clade I (neuroserpin), member 1							123.0	123.0	123.0					3																	167508323		2203	4300	6503	SO:0001819	synonymous_variant	5274				central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:167508323T>C	Z81326	CCDS3203.1	3q26.1	2014-02-18	2005-08-18		ENSG00000163536	ENSG00000163536		"""Serine (or cysteine) peptidase inhibitors"""	8943	protein-coding gene	gene with protein product		602445	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1"""	PI12		24172014	Standard	NM_005025		Approved	neuroserpin	uc003ffa.4	Q99574	OTTHUMG00000158450	ENST00000295777.5:c.414T>C	3.37:g.167508323T>C						SERPINI1_ENST00000446050.2_Silent_p.H138H	p.H138H	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN			3	845	+			138					A8K217|D3DNP1|Q6AHZ4	Silent	SNP	ENST00000295777.5	37	c.414T>C	CCDS3203.1																																																																																				0.363	SERPINI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351056.1			21	34	0	0	0	0.592651	0	21	34				
ECE1	1889	broad.mit.edu	37	1	21564631	21564631	+	Missense_Mutation	SNP	C	C	A	rs141146885	byFrequency	TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr1:21564631C>A	ENST00000374893.6	-	11	1459	c.1385G>T	c.(1384-1386)aGc>aTc	p.S462I	ECE1_ENST00000436918.2_Missense_Mutation_p.S462I|ECE1_ENST00000528294.1_5'Flank|ECE1_ENST00000357071.4_Missense_Mutation_p.S450I|ECE1_ENST00000415912.2_Missense_Mutation_p.S446I|ECE1_ENST00000264205.6_Missense_Mutation_p.S459I	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	462					bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814)	early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		ACTTACTATGCTCTTGCTGTC	0.562																																						ENST00000415912.2																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25						c.(1336-1338)aGc>aTc		endothelin converting enzyme 1							99.0	84.0	89.0					1																	21564631		2203	4300	6503	SO:0001583	missense	1889				bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity	g.chr1:21564631C>A	D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298			3146	protein-coding gene	gene with protein product		600423		ECE		7805846, 7864876, 17592116	Standard	NM_001397		Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000374893.6:c.1385G>T	1.37:g.21564631C>A	ENSP00000364028:p.Ser462Ile					ECE1_ENST00000436918.2_Missense_Mutation_p.S462I|ECE1_ENST00000374893.6_Missense_Mutation_p.S462I|ECE1_ENST00000357071.4_Missense_Mutation_p.S450I|ECE1_ENST00000264205.6_Missense_Mutation_p.S459I	p.S446I	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)	11	1462	-		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	462					A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Missense_Mutation	SNP	ENST00000374893.6	37	c.1337G>T	CCDS215.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.866780	0.32977	.	.	ENSG00000117298	ENST00000415912;ENST00000357071;ENST00000374893;ENST00000436918;ENST00000264205	T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84	5.55	0.51	0.16983	Peptidase M13 (1);Metallopeptidase, catalytic domain (1);	0.508327	0.24544	N	0.037610	T	0.52885	0.1762	N	0.24115	0.695	0.39751	D	0.971899	B;B;B;B;B	0.15141	0.0;0.004;0.0;0.003;0.012	B;B;B;B;B	0.20577	0.005;0.028;0.007;0.03;0.016	T	0.37291	-0.9712	10	0.56958	D	0.05	-25.8126	1.2783	0.02035	0.1351:0.2448:0.14:0.4801	.	462;446;462;450;459	B4DKB2;Q2Z2K8;P42892;P42892-2;P42892-4	.;.;ECE1_HUMAN;.;.	I	446;450;462;462;459	ENSP00000405088:S446I;ENSP00000349581:S450I;ENSP00000364028:S462I;ENSP00000388439:S462I;ENSP00000264205:S459I	ENSP00000264205:S459I	S	-	2	0	ECE1	21437218	0.967000	0.33354	0.994000	0.49952	0.749000	0.42624	0.750000	0.26334	-0.090000	0.12462	-0.302000	0.09304	AGC		0.562	ECE1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007470.2	NM_001397		6	19	1	0	0.00116845	0.217242	0.00122994	6	19				
DDA1	79016	broad.mit.edu	37	19	17425150	17425150	+	Nonsense_Mutation	SNP	C	C	T	rs573758701		TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr19:17425150C>T	ENST00000359866.4	+	3	212	c.88C>T	c.(88-90)Cga>Tga	p.R30*		NM_024050.5	NP_076955.1	Q9BW61	DDA1_HUMAN	DET1 and DDB1 associated 1	30										kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4						CCTGCAGAACCGACGGCCCTC	0.607																																						ENST00000359866.4																			0				kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(88-90)Cga>Tga		DET1 and DDB1 associated 1							111.0	84.0	93.0					19																	17425150		2203	4300	6503	SO:0001587	stop_gained	79016							g.chr19:17425150C>T	BC000615	CCDS12357.1	19p13.11	2008-02-05	2007-10-25	2007-10-25		ENSG00000130311			28360	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 58"""	C19orf58		17452440	Standard	NM_024050		Approved	PCIA1, MGC2594	uc002ngd.3	Q9BW61		ENST00000359866.4:c.88C>T	19.37:g.17425150C>T	ENSP00000352928:p.Arg30*						p.R30*	NM_024050.5	NP_076955.1	Q9BW61	DDA1_HUMAN			3	212	+			30						Nonsense_Mutation	SNP	ENST00000359866.4	37	c.88C>T	CCDS12357.1	.	.	.	.	.	.	.	.	.	.	C	33	5.199477	0.94997	.	.	ENSG00000130311	ENST00000359866	.	.	.	4.69	3.63	0.41609	.	0.070953	0.56097	D	0.000031	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.8617	8.9439	0.35747	0.3848:0.6152:0.0:0.0	.	.	.	.	X	30	.	ENSP00000352928:R30X	R	+	1	2	DDA1	17286150	1.000000	0.71417	0.997000	0.53966	0.784000	0.44337	3.126000	0.50477	2.157000	0.67596	0.561000	0.74099	CGA		0.607	DDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463519.1	NM_024050		5	36	0	0	0	0.217242	0	5	36				
IL12RB1	3594	broad.mit.edu	37	19	18191676	18191676	+	Silent	SNP	C	C	T			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr19:18191676C>T	ENST00000600835.2	-	5	673	c.375G>A	c.(373-375)aaG>aaA	p.K125K	IL12RB1_ENST00000593993.2_Silent_p.K125K|IL12RB1_ENST00000322153.7_Silent_p.K125K			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	125	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CCTCAGGAGACTTCTCTGTCT	0.587																																						ENST00000600835.1																			0				endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						c.(373-375)aaG>aaA		interleukin 12 receptor, beta 1							96.0	88.0	91.0					19																	18191676		2203	4300	6503	SO:0001819	synonymous_variant	0				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity	g.chr19:18191676C>T	U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.375G>A	19.37:g.18191676C>T						IL12RB1_ENST00000430026.2_Silent_p.K125K|IL12RB1_ENST00000593993.1_Silent_p.K125K|IL12RB1_ENST00000322153.6_Silent_p.K125K	p.K125K			P42701	I12R1_HUMAN			5	678	-			125			Fibronectin type-III 1.		A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Silent	SNP	ENST00000600835.2	37	c.375G>A	CCDS54232.1																																																																																				0.587	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466525.3			18	45	0	0	0	0.539581	0	18	45				
FAM193A	8603	broad.mit.edu	37	4	2702268	2702268	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr4:2702268A>G	ENST00000324666.5	+	17	3847	c.3496A>G	c.(3496-3498)Att>Gtt	p.I1166V	FAM193A_ENST00000382839.3_Missense_Mutation_p.I1166V|FAM193A_ENST00000545951.1_Missense_Mutation_p.I1166V|FAM193A_ENST00000502458.1_Missense_Mutation_p.I1188V|FAM193A_ENST00000505311.1_Missense_Mutation_p.I1166V	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	1166										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						CAACAATTCAATTGGTAAATA	0.458																																						ENST00000324666.5																			0				NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						c.(3496-3498)Att>Gtt		family with sequence similarity 193, member A							44.0	49.0	47.0					4																	2702268		2203	4300	6503	SO:0001583	missense	8603							g.chr4:2702268A>G	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.3496A>G	4.37:g.2702268A>G	ENSP00000324587:p.Ile1166Val					FAM193A_ENST00000382839.3_Missense_Mutation_p.I1166V|FAM193A_ENST00000545951.1_Missense_Mutation_p.I1166V|FAM193A_ENST00000502458.1_Missense_Mutation_p.I1188V|FAM193A_ENST00000505311.1_Missense_Mutation_p.I1166V	p.I1166V	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN			17	3847	+			1166					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	ENST00000324666.5	37	c.3496A>G	CCDS58875.1	.	.	.	.	.	.	.	.	.	.	A	14.44	2.536078	0.45176	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.01	2.44	0.29823	.	0.112587	0.64402	D	0.000018	T	0.51907	0.1702	L	0.34521	1.04	0.36371	D	0.861337	B;B;B;B;P	0.46142	0.193;0.025;0.042;0.008;0.873	B;B;B;B;P	0.61201	0.064;0.026;0.062;0.017;0.885	T	0.54344	-0.8308	10	0.35671	T	0.21	-8.6259	11.5449	0.50688	0.6581:0.3418:0.0:0.0	.	1166;1188;1166;1188;1166	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	V	1166;1166;1166;1188	ENSP00000372290:I1166V;ENSP00000324587:I1166V;ENSP00000443617:I1166V;ENSP00000427505:I1188V	ENSP00000324587:I1166V	I	+	1	0	FAM193A	2672066	0.999000	0.42202	0.220000	0.23810	0.953000	0.61014	4.122000	0.57910	0.255000	0.21593	0.533000	0.62120	ATT		0.458	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		3	30	0	0	0	0.115264	0	3	30				
IDH2	3418	broad.mit.edu	37	15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	rs121913503		TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr15:90631838C>T	ENST00000330062.3	-	4	628	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_ENST00000540499.2_Missense_Mutation_p.R120K|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R42K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM																																	ENST00000330062.3				Dom	yes		15	15q26.1	3418	M	"""socitrate dehydrogenase 2 (NADP+), mitochondrial """			M			GBM		138	Substitution - Missense(138)	p.R172K(116)|p.R172M(21)|p.R172N(1)	haematopoietic_and_lymphoid_tissue(67)|central_nervous_system(65)|biliary_tract(6)	biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109						c.(514-516)aGg>aAg		isocitrate dehydrogenase 2 (NADP+), mitochondrial							85.0	81.0	82.0					15																	90631838		2200	4298	6498	SO:0001583	missense	3418				2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	g.chr15:90631838C>T		CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.515G>A	15.37:g.90631838C>T	ENSP00000331897:p.Arg172Lys					IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R42K|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K	p.R172K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)		4	628	-	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		172					B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	ENST00000330062.3	37	c.515G>A	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957149	0.53293	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	D;D;D	0.86432	-2.12;-2.12;-2.12	5.93	4.07	0.47477	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.95217	0.8449	H	0.96889	3.9	0.49687	D	0.999812	D	0.89917	1.0	D	0.91635	0.999	D	0.95096	0.8226	10	0.87932	D	0	.	10.781	0.46377	0.0:0.8464:0.0:0.1536	.	172	P48735	IDHP_HUMAN	K	172;42;120	ENSP00000331897:R172K;ENSP00000438457:R42K;ENSP00000446147:R120K	ENSP00000331897:R172K	R	-	2	0	IDH2	88432842	1.000000	0.71417	0.025000	0.17156	0.001000	0.01503	7.797000	0.85911	0.862000	0.35528	-0.258000	0.10820	AGG		0.632	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1			22	36	0	0	0	0.592651	0	22	36				
LEMD3	23592	broad.mit.edu	37	12	65639990	65639990	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr12:65639990G>A	ENST00000308330.2	+	13	2647	c.2621G>A	c.(2620-2622)cGc>cAc	p.R874H		NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	874	Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.				negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of cell cycle (GO:0051726)|skeletal muscle cell differentiation (GO:0035914)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		TACCACCATCGCTTTCCCCAG	0.358																																						ENST00000308330.2																			0				breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36						c.(2620-2622)cGc>cAc		LEM domain containing 3							102.0	95.0	98.0					12																	65639990		2203	4300	6503	SO:0001583	missense	23592				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding	g.chr12:65639990G>A	AF263918	CCDS8972.1	12q14	2008-02-05			ENSG00000174106	ENSG00000174106			28887	protein-coding gene	gene with protein product		607844				10671519, 15489854	Standard	NM_014319		Approved	MAN1	uc001ssl.2	Q9Y2U8	OTTHUMG00000168840	ENST00000308330.2:c.2621G>A	12.37:g.65639990G>A	ENSP00000308369:p.Arg874His						p.R874H	NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)	13	2647	+			874			Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.		Q9NT47|Q9NYA5	Missense_Mutation	SNP	ENST00000308330.2	37	c.2621G>A	CCDS8972.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402248	0.83230	.	.	ENSG00000174106	ENST00000308330	T	0.55588	0.51	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.54565	0.1866	L	0.31371	0.925	0.80722	D	1	P	0.51653	0.947	P	0.51833	0.681	T	0.47235	-0.9133	9	.	.	.	-9.9538	19.8575	0.96767	0.0:0.0:1.0:0.0	.	874	Q9Y2U8	MAN1_HUMAN	H	874	ENSP00000308369:R874H	.	R	+	2	0	LEMD3	63926257	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	9.415000	0.97375	2.709000	0.92574	0.637000	0.83480	CGC		0.358	LEMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401312.2			4	88	0	0	0	0.150653	0	4	88				
CUBN	8029	broad.mit.edu	37	10	16877063	16877063	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr10:16877063G>T	ENST00000377833.4	-	64	10377	c.10312C>A	c.(10312-10314)Cat>Aat	p.H3438N		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3438	CUB 26. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCAAGTGAATGAAAAAAGAGG	0.428																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(10312-10314)Cat>Aat		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						141.0	121.0	128.0					10																	16877063		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16877063G>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.10312C>A	10.37:g.16877063G>T	ENSP00000367064:p.His3438Asn						p.H3438N	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			64	10377	-			3438			CUB 26.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.10312C>A	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	1.680	-0.506752	0.04231	.	.	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.16897	2.31	4.84	3.92	0.45320	CUB (5);	0.160284	0.29192	N	0.012878	T	0.06872	0.0175	N	0.05510	-0.035	0.80722	D	1	B	0.14012	0.009	B	0.17098	0.017	T	0.17137	-1.0379	10	0.06494	T	0.89	.	7.5435	0.27753	0.0848:0.0:0.7511:0.1641	.	3438	O60494	CUBN_HUMAN	N	3438;279	ENSP00000367064:H3438N	ENSP00000367064:H3438N	H	-	1	0	CUBN	16917069	0.999000	0.42202	0.422000	0.26621	0.697000	0.40408	2.024000	0.41049	1.229000	0.43630	0.561000	0.74099	CAT		0.428	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		16	67	1	0	6.31663e-08	0.479597	6.76781e-08	16	67				
MTNR1A	4543	broad.mit.edu	37	4	187455100	187455100	+	Missense_Mutation	SNP	C	C	T	rs148793802	byFrequency	TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr4:187455100C>T	ENST00000307161.5	-	2	997	c.796G>A	c.(796-798)Gcc>Acc	p.A266T	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	266					circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|mating behavior (GO:0007617)|positive regulation of cGMP biosynthetic process (GO:0030828)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	hormone binding (GO:0042562)|melatonin receptor activity (GO:0008502)|organic cyclic compound binding (GO:0097159)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	ACCATGCTGGCGGGGTCAGAG	0.507													C|||	6	0.00119808	0.0	0.0	5008	,	,		19771	0.0		0.006	False		,,,				2504	0.0					ENST00000307161.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14						c.(796-798)Gcc>Acc		melatonin receptor 1A	Melatonin(DB01065)|Ramelteon(DB00980)	C	THR/ALA	1,4405		0,1,2202	72.0	79.0	76.0		796	3.2	0.0	4	dbSNP_134	76	5,8595	3.7+/-12.6	0,5,4295	yes	missense	MTNR1A	NM_005958.3	58	0,6,6497	TT,TC,CC		0.0581,0.0227,0.0461	benign	266/351	187455100	6,13000	2203	4300	6503	SO:0001583	missense	4543				circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity	g.chr4:187455100C>T		CCDS3848.1	4q35	2012-08-08				ENSG00000168412		"""GPCR / Class A : Melatonin receptors"""	7463	protein-coding gene	gene with protein product		600665				7558006	Standard	NM_005958		Approved	MEL-1A-R	uc003izd.1	P48039		ENST00000307161.5:c.796G>A	4.37:g.187455100C>T	ENSP00000302811:p.Ala266Thr					RP11-215A19.2_ENST00000509111.1_Intron	p.A266T	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	2	997	-		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)	266					A0AVC5|B0M0L2	Missense_Mutation	SNP	ENST00000307161.5	37	c.796G>A	CCDS3848.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	C	1.808	-0.475429	0.04414	2.27E-4	5.81E-4	ENSG00000168412	ENST00000307161	T	0.71579	-0.58	4.96	3.15	0.36227	GPCR, rhodopsin-like superfamily (1);	0.667620	0.15692	N	0.249369	T	0.52757	0.1754	N	0.25825	0.765	0.09310	N	1	B	0.13594	0.008	B	0.13407	0.009	T	0.33137	-0.9880	10	0.21014	T	0.42	-2.2721	7.511	0.27573	0.1342:0.7171:0.0:0.1487	.	266	P48039	MTR1A_HUMAN	T	266	ENSP00000302811:A266T	ENSP00000302811:A266T	A	-	1	0	MTNR1A	187692094	0.011000	0.17503	0.002000	0.10522	0.003000	0.03518	0.765000	0.26546	1.082000	0.41137	0.655000	0.94253	GCC		0.507	MTNR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360189.1			6	83	0	0	0	0.278610	0	6	83				
RELL2	285613	broad.mit.edu	37	5	141019513	141019513	+	Missense_Mutation	SNP	G	G	C	rs143590565	byFrequency	TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr5:141019513G>C	ENST00000297164.3	+	5	1730	c.530G>C	c.(529-531)cGc>cCc	p.R177P	FCHSD1_ENST00000435817.2_3'UTR|RELL2_ENST00000518025.1_3'UTR|RELL2_ENST00000521367.1_Missense_Mutation_p.R111P|RELL2_ENST00000444782.1_Missense_Mutation_p.R177P|RELL2_ENST00000518856.1_Missense_Mutation_p.R111P|FCHSD1_ENST00000523856.1_5'UTR	NM_173828.4	NP_776189.3	Q8NC24	RELL2_HUMAN	RELT-like 2	177					positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTGAGAAGCGCTATGGACTG	0.647																																						ENST00000297164.3																			0				large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(529-531)cGc>cCc		RELT-like 2							82.0	87.0	85.0					5																	141019513		2203	4300	6503	SO:0001583	missense	285613					integral to membrane|plasma membrane		g.chr5:141019513G>C	AK054889	CCDS4265.1	5q31.3	2011-10-11	2007-06-15	2007-06-15	ENSG00000164620	ENSG00000164620			26902	protein-coding gene	gene with protein product		611213	"""chromosome 5 open reading frame 16"""	C5orf16		12975309, 16389068	Standard	NM_173828		Approved	FLJ90583	uc003lli.3	Q8NC24	OTTHUMG00000129612	ENST00000297164.3:c.530G>C	5.37:g.141019513G>C	ENSP00000297164:p.Arg177Pro					FCHSD1_ENST00000523856.1_5'UTR|RELL2_ENST00000521367.1_Missense_Mutation_p.R111P|RELL2_ENST00000444782.1_Missense_Mutation_p.R177P|RELL2_ENST00000518025.1_3'UTR|RELL2_ENST00000518856.1_Missense_Mutation_p.R111P|FCHSD1_ENST00000435817.2_3'UTR	p.R177P	NM_173828.4	NP_776189.3	Q8NC24	RELL2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	1730	+			177					D3DQE2|Q6P4E7|Q6UXY2	Missense_Mutation	SNP	ENST00000297164.3	37	c.530G>C	CCDS4265.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244810	0.59103	.	.	ENSG00000164620	ENST00000444782;ENST00000521367;ENST00000297164;ENST00000518856	T;T;T;T	0.16897	2.35;2.31;2.35;2.31	5.2	5.2	0.72013	.	0.068614	0.52532	D	0.000065	T	0.32164	0.0820	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.79108	0.974;0.992	T	0.02457	-1.1156	10	0.87932	D	0	-11.8248	9.8539	0.41073	0.0941:0.0:0.9059:0.0	.	111;177	E5RHA7;Q8NC24	.;RELL2_HUMAN	P	177;111;177;111	ENSP00000409443:R177P;ENSP00000430948:R111P;ENSP00000297164:R177P;ENSP00000427992:R111P	ENSP00000297164:R177P	R	+	2	0	RELL2	140999697	0.596000	0.26866	1.000000	0.80357	0.922000	0.55478	0.988000	0.29616	2.413000	0.81919	0.561000	0.74099	CGC		0.647	RELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251807.2	NM_173828		3	55	0	0	0	0.115264	0	3	55				
TPM1	7168	broad.mit.edu	37	15	63354774	63354774	+	Splice_Site	SNP	G	G	A			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr15:63354774G>A	ENST00000403994.3	+	8	782		c.e8-1		TPM1_ENST00000559556.1_Splice_Site|TPM1_ENST00000357980.4_Splice_Site|TPM1_ENST00000560445.1_Intron|TPM1_ENST00000559397.1_Splice_Site|TPM1_ENST00000288398.6_Splice_Site|TPM1_ENST00000560959.1_Splice_Site|TPM1_ENST00000559281.1_Splice_Site|TPM1_ENST00000267996.7_Splice_Site|TPM1_ENST00000404484.4_Splice_Site|TPM1_ENST00000334895.5_Splice_Site|TPM1_ENST00000358278.3_Splice_Site|TPM1_ENST00000317516.7_Splice_Site	NM_001018005.1	NP_001018005.1	P09493	TPM1_HUMAN	tropomyosin 1 (alpha)						cardiac muscle contraction (GO:0060048)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|negative regulation of cell migration (GO:0030336)|positive regulation of ATPase activity (GO:0032781)|positive regulation of cell adhesion (GO:0045785)|positive regulation of heart rate by epinephrine (GO:0003065)|positive regulation of stress fiber assembly (GO:0051496)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|ruffle organization (GO:0031529)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|wound healing (GO:0042060)	bleb (GO:0032059)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|muscle thin filament tropomyosin (GO:0005862)|ruffle membrane (GO:0032587)|sarcomere (GO:0030017)|stress fiber (GO:0001725)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(1)|large_intestine(1)|lung(2)	4						AATCATTACAGGCTGAGACTC	0.358																																						ENST00000357980.4																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.e9-1		tropomyosin 1 (alpha)							104.0	105.0	105.0					15																	63354774		2203	4300	6503	SO:0001630	splice_region_variant	7168				cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle	g.chr15:63354774G>A	AB209041	CCDS10181.1, CCDS32262.1, CCDS32263.1, CCDS32264.1, CCDS45273.1, CCDS58368.1, CCDS58369.1	15q22.1	2014-09-17			ENSG00000140416	ENSG00000140416		"""Tropomyosins"""	12010	protein-coding gene	gene with protein product		191010	"""chromosome 15 open reading frame 13"", ""cardiomyopathy, hypertrophic 3"""	C15orf13, CMH3		10343096, 8205619	Standard	XM_005254637		Approved		uc002all.3	P09493	OTTHUMG00000132803	ENST00000403994.3:c.703-1G>A	15.37:g.63354774G>A						TPM1_ENST00000358278.3_Splice_Site|TPM1_ENST00000334895.5_Splice_Site|TPM1_ENST00000559281.1_Splice_Site|TPM1_ENST00000404484.4_Splice_Site|TPM1_ENST00000403994.3_Splice_Site|TPM1_ENST00000317516.7_Splice_Site|TPM1_ENST00000559397.1_Splice_Site|TPM1_ENST00000288398.6_Splice_Site|TPM1_ENST00000560959.1_Splice_Site|TPM1_ENST00000267996.7_Splice_Site|TPM1_ENST00000559556.1_Splice_Site|TPM1_ENST00000560445.1_Intron				P09493	TPM1_HUMAN			9	907	+								B7Z5T7|D9YZV2|D9YZV3|D9YZV8|P09494|P10469|Q6DV89|Q6DV90|Q7Z6L8|Q86W64|Q96IK2|Q9UCI1|Q9UCI2|Q9UCY9|Q9Y427	Splice_Site	SNP	ENST00000403994.3	37		CCDS45273.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411016	0.83340	.	.	ENSG00000140416	ENST00000288398;ENST00000267996;ENST00000358278;ENST00000403994;ENST00000357980;ENST00000404484;ENST00000334895;ENST00000317516	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9103	0.92481	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TPM1	61141827	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.780000	0.95670	0.655000	0.94253	.		0.358	TPM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000417083.2	NM_001018004	Intron	14	56	0	0	0	0.500413	0	14	56				
ZBTB20	26137	broad.mit.edu	37	3	114070194	114070194	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr3:114070194T>C	ENST00000474710.1	-	4	909	c.731A>G	c.(730-732)tAc>tGc	p.Y244C	ZBTB20_ENST00000462705.1_Missense_Mutation_p.Y171C|ZBTB20_ENST00000357258.3_Missense_Mutation_p.Y171C|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000464560.1_Missense_Mutation_p.Y171C|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000393785.2_Missense_Mutation_p.Y171C|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000481632.1_Missense_Mutation_p.Y171C|ZBTB20_ENST00000471418.1_Missense_Mutation_p.Y171C	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	244						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GAGTGCCGAGTAGATCCTGTC	0.667																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(511-513)tAc>tGc		zinc finger and BTB domain containing 20							88.0	78.0	82.0					3																	114070194		2203	4300	6503	SO:0001583	missense	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114070194T>C	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.731A>G	3.37:g.114070194T>C	ENSP00000419153:p.Tyr244Cys					ZBTB20_ENST00000474710.1_Missense_Mutation_p.Y244C|ZBTB20_ENST00000471418.1_Missense_Mutation_p.Y171C|ZBTB20_ENST00000481632.1_Missense_Mutation_p.Y171C|ZBTB20_ENST00000357258.3_Missense_Mutation_p.Y171C|ZBTB20_ENST00000464560.1_Missense_Mutation_p.Y171C|ZBTB20_ENST00000393785.2_Missense_Mutation_p.Y171C	p.Y171C	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	11	1333	-			244					Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	c.512A>G	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	T	17.39	3.377060	0.61735	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.12361	2.75;2.75;2.75;2.75;2.69;2.75;2.75	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.26122	0.0637	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.02294	-1.1181	10	0.87932	D	0	.	15.8108	0.78561	0.0:0.0:0.0:1.0	.	244	Q9HC78	ZBT20_HUMAN	C	171;171;171;171;244;171;171	ENSP00000420324:Y171C;ENSP00000377375:Y171C;ENSP00000418092:Y171C;ENSP00000419902:Y171C;ENSP00000419153:Y244C;ENSP00000349803:Y171C;ENSP00000417307:Y171C	ENSP00000349803:Y171C	Y	-	2	0	ZBTB20	115552884	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.525000	0.81892	2.320000	0.78422	0.528000	0.53228	TAC		0.667	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		11	62	0	0	0	0.361761	0	11	62				
KY	339855	broad.mit.edu	37	3	134369693	134369693	+	Missense_Mutation	SNP	G	G	A	rs373172556		TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr3:134369693G>A	ENST00000423778.2	-	1	171	c.110C>T	c.(109-111)cCg>cTg	p.P37L	KY_ENST00000508956.1_Missense_Mutation_p.P37L|KY_ENST00000503669.1_Missense_Mutation_p.P37L	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	37					muscle organ development (GO:0007517)|neuromuscular junction development (GO:0007528)	cytoskeleton (GO:0005856)|Z disc (GO:0030018)	peptidase activity (GO:0008233)			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						CAGCGAGCTCGGGTTCGCCTG	0.682																																						ENST00000508956.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						c.(109-111)cCg>cTg		kyphoscoliosis peptidase		G	LEU/PRO	6,4040		0,6,2017	35.0	38.0	37.0		110	3.9	1.0	3		37	0,8336		0,0,4168	no	missense	KY	NM_178554.4	98	0,6,6185	AA,AG,GG		0.0,0.1483,0.0485	probably-damaging	37/662	134369693	6,12376	2023	4168	6191	SO:0001583	missense	339855					cytoskeleton|Z disc	peptidase activity	g.chr3:134369693G>A	AK090526	CCDS46920.1	3q22.1	2010-11-23			ENSG00000174611	ENSG00000174611			26576	protein-coding gene	gene with protein product		605739					Standard	NM_178554		Approved	FLJ33207	uc010hty.3	Q8NBH2	OTTHUMG00000159788	ENST00000423778.2:c.110C>T	3.37:g.134369693G>A	ENSP00000397598:p.Pro37Leu					KY_ENST00000423778.2_Missense_Mutation_p.P37L|KY_ENST00000503669.1_Missense_Mutation_p.P37L	p.P37L			Q8NBH2	KY_HUMAN			1	167	-			37					B7Z1S4|Q6ZT15	Missense_Mutation	SNP	ENST00000423778.2	37	c.110C>T	CCDS46920.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.409512	0.25378	0.001483	0.0	ENSG00000174611	ENST00000508956;ENST00000423778;ENST00000503669;ENST00000310263	.	.	.	4.81	3.93	0.45458	.	0.239529	0.28606	N	0.014745	T	0.32912	0.0845	L	0.27053	0.805	0.40860	D	0.983825	B;B;B	0.30605	0.274;0.287;0.274	B;B;B	0.22601	0.04;0.009;0.04	T	0.16748	-1.0392	9	0.27785	T	0.31	-35.4274	8.0102	0.30349	0.1085:0.0:0.8915:0.0	.	37;37;37	Q8NBH2-3;B4DGA7;Q8NBH2-4	.;.;.	L	37	.	ENSP00000309520:P37L	P	-	2	0	KY	135852383	0.988000	0.35896	1.000000	0.80357	0.055000	0.15305	1.467000	0.35321	2.228000	0.72767	0.462000	0.41574	CCG		0.682	KY-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357320.1	NM_178554		5	13	0	0	0	0.184627	0	5	13				
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121137791	121137793	+	lincRNA	DEL	CCA	CCA	-	rs28552466|rs61625886|rs374710813	byFrequency	TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr1:121137791_121137793delCCA	ENST00000417218.1	+	0	0				RP11-343N15.1_ENST00000437515.1_lincRNA																							ATTTCGCCCTCCACCGCCGCCGC	0.631																																						ENST00000437515.1																			0																																																			0							g.chr1:121137791_121137793delCCA																													1.37:g.121137791_121137793delCCA														0	329	-									RNA	DEL	ENST00000417218.1	37																																																																																						0.631	AL592494.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000036739.1			6	4						6	4	---	---	---	---
ZNF717	100131827	broad.mit.edu	37	3	75790810	75790811	+	Frame_Shift_Ins	INS	-	-	T	rs199577560	byFrequency	TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr3:75790810_75790811insT	ENST00000477374.1	-	3	305_306	c.134_135insA	c.(133-135)accfs	p.T45fs	ZNF717_ENST00000400845.3_Frame_Shift_Ins_p.T38fs|ZNF717_ENST00000422325.1_Frame_Shift_Ins_p.T45fs|ZNF717_ENST00000478296.1_5'UTR|ZNF717_ENST00000491507.1_5'UTR			Q9BY31	ZN717_HUMAN	zinc finger protein 717	38	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						CCCTGTACAGGGTCCTCTGAGC	0.51																																						ENST00000422325.1																			0				autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						c.(133-135)actfs		zinc finger protein 717																																				SO:0001589	frameshift_variant	100131827				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr3:75790810_75790811insT	AF226994		3p12.3	2013-01-08			ENSG00000227124	ENSG00000227124		"""Zinc fingers, C2H2-type"", ""-"""	29448	protein-coding gene	gene with protein product			"""zinc finger protein 838"""	ZNF838			Standard	NM_001128223		Approved	X17	uc011bgi.2	Q9BY31	OTTHUMG00000158965	ENST00000477374.1:c.134_135insA	3.37:g.75790810_75790811insT	ENSP00000417902:p.Thr45fs					ZNF717_ENST00000400845.3_Frame_Shift_Ins_p.T38fs|ZNF717_ENST00000491507.1_5'UTR|ZNF717_ENST00000477374.1_Frame_Shift_Ins_p.T45fs|ZNF717_ENST00000478296.1_5'UTR	p.T45fs	NM_001128223.1	NP_001121695.1	C9JSV9	C9JSV9_HUMAN			3	456_457	-			45						Frame_Shift_Ins	INS	ENST00000477374.1	37	c.134_135insA																																																																																					0.510	ZNF717-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000352767.1	NM_001128223		2	4						2	4	---	---	---	---
ABCC6P1	653190	broad.mit.edu	37	16	18593649	18593649	+	RNA	DEL	A	A	-	rs534869505	byFrequency	TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr16:18593649delA	ENST00000546162.2	+	0	805					NR_003569.1				ATP-binding cassette, sub-family C, member 6 pseudogene 1 (functional)																		ccctgtctcgaaaaaaaaaaa	0.507													|||unknown(NO_COVERAGE)	1040	0.207668	0.2322	0.2075	5008	,	,		21098	0.1905		0.175	False		,,,				2504	0.226					ENST00000546162.2																			0																																																			0							g.chr16:18593649delA	BC075833		16p12.3	2014-09-11	2014-05-09		ENSG00000256340	ENSG00000256340		"""-"""	33352	pseudogene	pseudogene			"""ATP-binding cassette, sub-family C, member 6 pseudogene 1"""			18405356, 22873774	Standard	NR_003569		Approved		uc002dfg.3		OTTHUMG00000177192		16.37:g.18593649delA								NR_003569.1						0	805	+									RNA	DEL	ENST00000546162.2	37																																																																																						0.507	ABCC6P1-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000435772.2	NR_003569		3	5						3	5	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11085863	11085864	+	RNA	INS	-	-	C			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr21:11085863_11085864insC	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		catcaccaccaccaccatcacc	0.579																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11085863_11085864insC	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11085865_11085865dupC												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.579	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		2	4						2	4	---	---	---	---
GAGE2D	729408	broad.mit.edu	37	X	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT	rs372553636		TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(25-27)tat>TATtat	p.9_9Y>YY		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1	Q9UEU5	GGE2D_HUMAN	G antigen 2D	9					cellular defense response (GO:0006968)												GAAGATCGACCTATCGGCCTAG	0.465														477	0.126358	0.031	0.098	3775	,	,		26951	0.0972		0.1441	False		,,,				2504	0.1278					ENST00000404720.2																			0											c.(22-27)acatcg>acTATatcg		G antigen 2D				10,505,1500		1,1,3,4,46,330,82,490,187						-1.1	0.0			8	27,1244,2482		1,3,16,6,128,539,446,675,577	no	codingComplex	GAGE2D	NM_001098407.1		2,4,19,10,174,869,528,1165,764	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		33.8662,25.5583,30.9639				37,1749,3982				SO:0001652	inframe_insertion	729408							g.chrX:49208295_49208296insTAT			Xp11.23	2012-10-02			ENSG00000240257				31959	protein-coding gene	gene with protein product		300735					Standard	NM_001098407		Approved	GAGE8		Q9UEU5	OTTHUMG00000067393	ENST00000404720.2:c.25_27dupTAT	X.37:g.49208296_49208298dupTAT	ENSP00000386110:p.Tyr9dup						p.8_9TS>TIS	NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1					2	96_97	+								A6NG46|A6NNR8|B7ZL76|Q4V325	In_Frame_Ins	INS	ENST00000404720.2	37	c.24_25insTAT	CCDS43941.1																																																																																				0.465	GAGE2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144212.1	NM_001098407		9	12						9	12	---	---	---	---
