#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
ITGAV	3685	broad.mit.edu	37	2	187503008	187503008	+	Silent	SNP	T	T	C			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr2:187503008T>C	ENST00000261023.3	+	9	1081	c.807T>C	c.(805-807)ttT>ttC	p.F269F	ITGAV_ENST00000433736.2_Silent_p.F223F|ITGAV_ENST00000374907.3_Silent_p.F233F	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	269					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	TTTCAGACTTTGTTTCAGGAG	0.333																																					Melanoma(58;108 1995 6081)	ENST00000261023.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(805-807)ttT>ttC		integrin, alpha V							77.0	79.0	78.0					2																	187503008		2202	4300	6502	SO:0001819	synonymous_variant	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187503008T>C		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.807T>C	2.37:g.187503008T>C						ITGAV_ENST00000374907.3_Silent_p.F233F|ITGAV_ENST00000433736.2_Silent_p.F223F	p.F269F	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	9	1081	+			269					A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Silent	SNP	ENST00000261023.3	37	c.807T>C	CCDS2292.1																																																																																				0.333	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		16	42	0	0	0	1	0	16	42				
NMBR	4829	broad.mit.edu	37	6	142399907	142399907	+	Missense_Mutation	SNP	G	G	A	rs201727010	byFrequency	TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr6:142399907G>A	ENST00000258042.1	-	2	696	c.556C>T	c.(556-558)Cgc>Tgc	p.R186C	NMBR_ENST00000480652.1_5'Flank	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	186					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		CTACTGATGCGAGCCACTTCT	0.498													G|||	2	0.000399361	0.0	0.0	5008	,	,		14837	0.0		0.0	False		,,,				2504	0.002					ENST00000258042.1																			0				breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(556-558)Cgc>Tgc		neuromedin B receptor							127.0	120.0	122.0					6																	142399907		2203	4300	6503	SO:0001583	missense	4829				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity	g.chr6:142399907G>A		CCDS5196.1	6q24.1	2014-02-21			ENSG00000135577	ENSG00000135577		"""GPCR / Class A : Bombesin receptors"""	7843	protein-coding gene	gene with protein product	"""bombesin receptor 1"""	162341					Standard	NM_002511		Approved	BB1	uc003qiu.3	P28336	OTTHUMG00000015704	ENST00000258042.1:c.556C>T	6.37:g.142399907G>A	ENSP00000258042:p.Arg186Cys						p.R186C	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)	2	696	-	Breast(32;0.155)		186					E9KL38|Q5VUK8	Missense_Mutation	SNP	ENST00000258042.1	37	c.556C>T	CCDS5196.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.128236	0.37533	.	.	ENSG00000135577	ENST00000258042	T	0.72835	-0.69	5.48	5.48	0.80851	GPCR, rhodopsin-like superfamily (1);	0.379009	0.32028	N	0.006696	T	0.59932	0.2230	L	0.54323	1.7	0.37525	D	0.917678	P	0.44816	0.844	B	0.39068	0.289	T	0.68398	-0.5419	10	0.56958	D	0.05	-3.7141	19.3197	0.94233	0.0:0.0:1.0:0.0	.	186	P28336	NMBR_HUMAN	C	186	ENSP00000258042:R186C	ENSP00000258042:R186C	R	-	1	0	NMBR	142441600	0.360000	0.24964	0.005000	0.12908	0.014000	0.08584	3.498000	0.53302	2.575000	0.86900	0.585000	0.79938	CGC		0.498	NMBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042479.1			5	95	0	0	0	1	0	5	95				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	0							g.chr20:29628243T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	102	0	0	0	1	0	5	102				
DNM1P47	100216544	broad.mit.edu	37	15	102292723	102292723	+	RNA	SNP	A	A	C			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr15:102292723A>C	ENST00000561463.1	+	0	769									DNM1 pseudogene 47																		GCGTGGGAACAAGGAGACACT	0.587																																						ENST00000561463.1																			0																																																			0							g.chr15:102292723A>C	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292723A>C														0	769	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.587	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	20	0	0	0	1	0	3	20				
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	83								p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A83T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(247-249)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29628245G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.247G>A	20.37:g.29628245G>A	ENSP00000278882:p.Ala83Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T	p.A83T							6	627	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.247G>A		.	.	.	.	.	.	.	.	.	.	g	18.80	3.700173	0.68501	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50277	0.75	2.08	2.08	0.27032	Actin cross-linking (1);	0.055129	0.64402	D	0.000001	T	0.40473	0.1118	.	.	.	0.51482	D	0.99992	B;P	0.40875	0.016;0.731	B;P	0.45558	0.085;0.485	T	0.12502	-1.0545	9	0.21540	T	0.41	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	88;83	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	83;88;83	ENSP00000408863:A88T	ENSP00000278882:A83T	A	+	1	0	FRG1B	28241906	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCC		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	103	0	0	0	1	0	5	103				
KIAA0408	9729	broad.mit.edu	37	6	127771348	127771348	+	Silent	SNP	C	C	T			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr6:127771348C>T	ENST00000483725.3	-	3	621	c.285G>A	c.(283-285)acG>acA	p.T95T	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000368268.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	95										endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		CTTTGTGATTCGTCCTTATAA	0.353																																						ENST00000483725.3																			0				endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28						c.(283-285)acG>acA		KIAA0408							125.0	126.0	125.0					6																	127771348		2203	4300	6503	SO:0001819	synonymous_variant	9729						protein binding	g.chr6:127771348C>T	AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.285G>A	6.37:g.127771348C>T						SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000368268.2_3'UTR	p.T95T	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN		GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)	3	621	-			95					B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Silent	SNP	ENST00000483725.3	37	c.285G>A	CCDS34531.1																																																																																				0.353	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	NM_014702		52	91	0	0	0	1	0	52	91				
ACSM1	116285	broad.mit.edu	37	16	20696518	20696518	+	Missense_Mutation	SNP	T	T	A			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr16:20696518T>A	ENST00000307493.4	-	2	467	c.400A>T	c.(400-402)Aca>Tca	p.T134S	ACSM1_ENST00000520010.1_Missense_Mutation_p.T134S|ACSM1_ENST00000219151.4_5'UTR	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	134					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CACTGACCTGTTCGCATGCAG	0.582																																						ENST00000307493.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						c.(400-402)Aca>Tca		acyl-CoA synthetase medium-chain family member 1							126.0	96.0	106.0					16																	20696518		2201	4300	6501	SO:0001583	missense	116285				benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20696518T>A	AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"""Acyl-CoA synthetase family"""	18049	protein-coding gene	gene with protein product		614357	"""butyryl Coenzyme A synthetase 1"""	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.400A>T	16.37:g.20696518T>A	ENSP00000301956:p.Thr134Ser					ACSM1_ENST00000520010.1_Missense_Mutation_p.T134S|ACSM1_ENST00000219151.4_5'UTR	p.T134S	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN			2	467	-			134					Q08AH2|Q96A20	Missense_Mutation	SNP	ENST00000307493.4	37	c.400A>T	CCDS10587.1	.	.	.	.	.	.	.	.	.	.	T	13.27	2.187900	0.38609	.	.	ENSG00000166743	ENST00000307493;ENST00000520010;ENST00000523065	T;T;T	0.40476	1.03;1.03;1.03	4.38	-0.76	0.11041	AMP-dependent synthetase/ligase (1);	0.861636	0.09851	N	0.747617	T	0.33411	0.0862	L	0.33245	0.995	0.80722	D	1	B	0.33345	0.409	B	0.37550	0.253	T	0.19679	-1.0298	10	0.51188	T	0.08	.	9.7047	0.40209	0.0:0.5571:0.0:0.4429	.	134	Q08AH1	ACSM1_HUMAN	S	134	ENSP00000301956:T134S;ENSP00000428047:T134S;ENSP00000428830:T134S	ENSP00000301956:T134S	T	-	1	0	ACSM1	20604019	0.992000	0.36948	0.943000	0.38184	0.693000	0.40251	0.121000	0.15667	-0.053000	0.13289	-0.363000	0.07495	ACA		0.582	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	NM_052956		3	43	0	0	0	1	0	3	43				
ZNF384	171017	broad.mit.edu	37	12	6776964	6776964	+	Silent	SNP	C	C	T	rs139957806	byFrequency	TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr12:6776964C>T	ENST00000396801.3	-	11	1857	c.1650G>A	c.(1648-1650)ccG>ccA	p.P550P	ZNF384_ENST00000396799.2_Silent_p.P489P|RP4-761J14.8_ENST00000586338.1_RNA|RP4-761J14.8_ENST00000589924.1_RNA|ZNF384_ENST00000355772.4_Silent_p.P434P|ZNF384_ENST00000319770.3_Silent_p.P473P|ZNF384_ENST00000361959.3_Silent_p.P550P|ZNF384_ENST00000396795.1_Silent_p.P489P	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	550					nucleocytoplasmic transport (GO:0006913)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						CCGTCTTATACGGGGTCAGGT	0.617			T	"""EWSR1, TAF15 """	ALL								C|||	4	0.000798722	0.003	0.0	5008	,	,		17434	0.0		0.0	False		,,,				2504	0.0					ENST00000396795.1				Dom	yes		12	12p13	171017	T	zinc finger protein 384 (CIZ/NMP4)			L	"""EWSR1, TAF15 """		ALL	EWSR1/ZNF384(4)	0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						c.(1465-1467)ccG>ccA		zinc finger protein 384		C	,,	0,4406		0,0,2203	139.0	137.0	137.0		1302,1650,1467	-2.2	1.0	12	dbSNP_134	137	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	ZNF384	NM_001039920.2,NM_001135734.2,NM_133476.4	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	434/462,550/578,489/517	6776964	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:6776964C>T	U80738	CCDS8557.1, CCDS31732.1, CCDS44817.1	12p12	2013-01-08	2002-05-23	2002-05-24		ENSG00000126746		"""Zinc fingers, C2H2-type"""	11955	protein-coding gene	gene with protein product		609951	"""trinucleotide repeat containing 1"""	TNRC1		9225980, 11149472	Standard	NM_001135734		Approved	CAGH1A, CIZ, NMP4, NP	uc010sfh.2	Q8TF68		ENST00000396801.3:c.1650G>A	12.37:g.6776964C>T						RP4-761J14.8_ENST00000589924.1_RNA|ZNF384_ENST00000396799.2_Silent_p.P489P|ZNF384_ENST00000355772.4_Silent_p.P434P|ZNF384_ENST00000319770.3_Silent_p.P473P|ZNF384_ENST00000396801.3_Silent_p.P550P|ZNF384_ENST00000361959.3_Silent_p.P550P	p.P489P			Q8TF68	ZN384_HUMAN			9	1964	-			550			Ala-rich.|Gln-rich.		O15407|Q7Z722|Q8N938	Silent	SNP	ENST00000396801.3	37	c.1467G>A	CCDS44817.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	C	8.448	0.852373	0.17106	0.0	1.16E-4	ENSG00000219410	ENST00000407384	.	.	.	5.62	-2.18	0.07037	.	.	.	.	.	T	0.46034	0.1372	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53947	-0.8366	5	0.87932	D	0	-19.9632	2.4626	0.04545	0.3046:0.2835:0.3168:0.0951	.	.	.	.	W	90	.	ENSP00000384049:R90W	R	+	1	2	AC125494.1	6647225	0.997000	0.39634	0.958000	0.39756	0.924000	0.55760	0.435000	0.21510	-0.450000	0.07107	-0.203000	0.12734	CGG		0.617	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400712.1			4	195	0	0	0	1	0	4	195				
ZDHHC24	254359	broad.mit.edu	37	11	66311297	66311297	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr11:66311297G>A	ENST00000310442.3	-	2	671	c.437C>T	c.(436-438)gCc>gTc	p.A146V	ACTN3_ENST00000502692.1_RNA|ZDHHC24_ENST00000525925.1_5'UTR|ZDHHC24_ENST00000526986.1_Missense_Mutation_p.A146V	NM_207340.1	NP_997223.1	Q6UX98	ZDH24_HUMAN	zinc finger, DHHC-type containing 24	146	Leu-rich.					integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1)	7						GACGCCGGCGGCATGAAGCAG	0.701											OREG0021110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000310442.3																			0				endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1)	7						c.(436-438)gCc>gTc		zinc finger, DHHC-type containing 24							36.0	38.0	37.0					11																	66311297		2197	4292	6489	SO:0001583	missense	254359					integral to membrane	acyltransferase activity|zinc ion binding	g.chr11:66311297G>A	BC005015	CCDS8143.1	11q13.2	2008-05-02				ENSG00000174165		"""Zinc fingers, DHHC-type"""	27387	protein-coding gene	gene with protein product							Standard	NM_207340		Approved		uc001oin.1	Q6UX98		ENST00000310442.3:c.437C>T	11.37:g.66311297G>A	ENSP00000309429:p.Ala146Val		OREG0021110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1090	ZDHHC24_ENST00000526986.1_Missense_Mutation_p.A146V|ZDHHC24_ENST00000525925.1_5'UTR	p.A146V	NM_207340.1	NP_997223.1	Q6UX98	ZDH24_HUMAN			2	671	-			146			Leu-rich.		Q6PEW7|Q9BSJ0	Missense_Mutation	SNP	ENST00000310442.3	37	c.437C>T	CCDS8143.1	.	.	.	.	.	.	.	.	.	.	g	12.37	1.918568	0.33908	.	.	ENSG00000174165	ENST00000526986;ENST00000310442	T;T	0.22134	1.97;1.97	3.91	-0.893	0.10567	.	0.479396	0.21027	N	0.081420	T	0.13586	0.0329	N	0.26092	0.79	0.09310	N	0.999997	B;B	0.18968	0.032;0.009	B;B	0.24394	0.039;0.053	T	0.31081	-0.9956	10	0.19147	T	0.46	-0.3476	13.4803	0.61332	0.0:0.7033:0.2967:0.0	.	146;146	E9PLR9;Q6UX98	.;ZDH24_HUMAN	V	146	ENSP00000431321:A146V;ENSP00000309429:A146V	ENSP00000309429:A146V	A	-	2	0	ZDHHC24	66067873	0.015000	0.18098	0.004000	0.12327	0.664000	0.39144	1.073000	0.30691	-0.009000	0.14296	0.457000	0.33378	GCC		0.701	ZDHHC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393089.1	NM_207340		3	32	0	0	0	1	0	3	32				
LAIR2	3904	broad.mit.edu	37	19	55019288	55019288	+	Silent	SNP	A	A	C			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr19:55019288A>C	ENST00000301202.2	+	3	375	c.253A>C	c.(253-255)Aga>Cga	p.R85R	LAIR2_ENST00000351841.2_Silent_p.R85R	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	85	Ig-like C2-type.					extracellular region (GO:0005576)				central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		GTCAGAGGCCAGATTCCACAT	0.498																																						ENST00000301202.2																			0				central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18						c.(253-255)Aga>Cga		leukocyte-associated immunoglobulin-like receptor 2							123.0	113.0	116.0					19																	55019288		2203	4300	6503	SO:0001819	synonymous_variant	3904					extracellular region	receptor activity	g.chr19:55019288A>C	AF013250	CCDS12897.1, CCDS12898.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167618	ENSG00000167618		"""Leukocyte-associated Ig like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6478	protein-coding gene	gene with protein product		602993	"""leukocyte-associated Ig-like receptor 2"""			9285412	Standard	XM_005277264		Approved	CD306	uc002qgc.3	Q6ISS4	OTTHUMG00000065697	ENST00000301202.2:c.253A>C	19.37:g.55019288A>C						LAIR2_ENST00000351841.2_Silent_p.R85R	p.R85R	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN		GBM - Glioblastoma multiforme(193;0.0967)	3	375	+	Ovarian(34;0.19)		85			Ig-like C2-type.		Q6PEZ4	Silent	SNP	ENST00000301202.2	37	c.253A>C	CCDS12897.1																																																																																				0.498	LAIR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140801.1			21	60	0	0	0	1	0	21	60				
UGT1A1	54658	broad.mit.edu	37	2	234669406	234669406	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr2:234669406C>G	ENST00000608383.1	+	1	473	c.473C>G	c.(472-474)cCc>cGc	p.P158R	UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000305208.5_Missense_Mutation_p.P158R|UGT1A3_ENST00000482026.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000360418.3_Missense_Mutation_p.P158R|UGT1A5_ENST00000373414.3_Intron|UGT1A1_ENST00000609767.1_Intron			P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	158					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	CCTTGCAGCCCCATCGTGGCC	0.557																																						ENST00000360418.3																			0				breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30						c.(472-474)cCc>cGc			Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)						157.0	144.0	148.0					2																	234669406		2203	4300	6503	SO:0001583	missense	0				bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	g.chr2:234669406C>G	M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000608383.1:c.473C>G	2.37:g.234669406C>G	ENSP00000476741:p.Pro158Arg					UGT1A6_ENST00000305139.6_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000305208.5_Missense_Mutation_p.P158R|UGT1A10_ENST00000344644.5_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron	p.P158R			P22309	UD11_HUMAN		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	1	473	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	158					A6NJC3|B8K286	Missense_Mutation	SNP	ENST00000608383.1	37	c.473C>G	CCDS2510.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.234199	0.39498	.	.	ENSG00000241635	ENST00000305208;ENST00000360418	T;T	0.58797	0.31;0.31	6.16	4.24	0.50183	.	.	.	.	.	T	0.59514	0.2199	L	0.52011	1.625	0.09310	N	1	B;B	0.23990	0.095;0.089	B;B	0.42112	0.376;0.148	T	0.53809	-0.8386	9	0.51188	T	0.08	.	7.4171	0.27050	0.2151:0.6453:0.0:0.1396	.	158;158	A6NJC3;P22309	.;UD11_HUMAN	R	158	ENSP00000304845:P158R;ENSP00000353593:P158R	ENSP00000304845:P158R	P	+	2	0	UGT1A1	234334145	0.000000	0.05858	0.990000	0.47175	0.898000	0.52572	1.027000	0.30115	2.937000	0.99478	0.650000	0.86243	CCC		0.557	UGT1A1-203	KNOWN	basic|CCDS	protein_coding	protein_coding				7	123	0	0	0	1	0	7	123				
WIPF2	147179	broad.mit.edu	37	17	38420949	38420949	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr17:38420949C>G	ENST00000323571.4	+	5	761	c.521C>G	c.(520-522)tCc>tGc	p.S174C	WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000585043.1_Missense_Mutation_p.S174C|WIPF2_ENST00000583130.1_Missense_Mutation_p.S174C	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	174					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						AAGCACAGCTCCTCTGCCCCT	0.642										HNSCC(43;0.11)																												ENST00000323571.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						c.(520-522)tCc>tGc		WAS/WASL interacting protein family, member 2							67.0	67.0	67.0					17																	38420949		2203	4300	6503	SO:0001583	missense	147179					cytoplasm|cytoskeleton	actin binding	g.chr17:38420949C>G	BC025965	CCDS11364.1	17q21.2	2006-10-12			ENSG00000171475	ENSG00000171475			30923	protein-coding gene	gene with protein product		609692				12213210, 11829459	Standard	XM_005257083		Approved	WICH, WIRE	uc002hug.1	Q8TF74	OTTHUMG00000133331	ENST00000323571.4:c.521C>G	17.37:g.38420949C>G	ENSP00000320924:p.Ser174Cys	HNSCC(43;0.11)				WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000585043.1_Missense_Mutation_p.S174C|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000583130.1_Missense_Mutation_p.S174C	p.S174C	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN			5	761	+			174					A8K0L3|Q658J8|Q71RE1|Q8TE44	Missense_Mutation	SNP	ENST00000323571.4	37	c.521C>G	CCDS11364.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.534213	0.45073	.	.	ENSG00000171475	ENST00000323571	T	0.33865	1.39	5.68	4.69	0.59074	.	0.121332	0.56097	D	0.000024	T	0.39627	0.1085	M	0.61703	1.905	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.29882	-0.9997	10	0.62326	D	0.03	-11.7306	16.5331	0.84366	0.0:0.8691:0.1309:0.0	.	174	Q8TF74	WIPF2_HUMAN	C	174	ENSP00000320924:S174C	ENSP00000320924:S174C	S	+	2	0	WIPF2	35674475	1.000000	0.71417	0.989000	0.46669	0.690000	0.40134	3.059000	0.49947	1.376000	0.46267	0.449000	0.29647	TCC		0.642	WIPF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257157.2	NM_133264		30	47	0	0	0	1	0	30	47				
ZAN	7455	broad.mit.edu	37	7	100365618	100365618	+	RNA	SNP	G	G	A			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr7:100365618G>A	ENST00000348028.3	+	0	5190				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ATGGCGGCCAGCTCTGTGGGC	0.602																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							45.0	51.0	49.0					7																	100365618		2090	4213	6303			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100365618G>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100365618G>A						ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	5173	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37																																																																																						0.602	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		5	32	0	0	0	1	0	5	32				
COQ6	51004	broad.mit.edu	37	14	74427895	74427895	+	Missense_Mutation	SNP	C	C	T	rs138207028		TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr14:74427895C>T	ENST00000334571.2	+	9	951	c.911C>T	c.(910-912)aCg>aTg	p.T304M	ENTPD5_ENST00000557325.1_Intron|COQ6_ENST00000394026.4_Missense_Mutation_p.T279M|COQ6_ENST00000238709.4_Missense_Mutation_p.T229M|COQ6_ENST00000554920.1_Intron	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 monooxygenase	304					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	cell projection (GO:0042995)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		GCTGACCACACGGACTTCATC	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		20918	0.001		0.0	False		,,,				2504	0.0					ENST00000334571.2																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(910-912)aCg>aTg		coenzyme Q6 monooxygenase		C	MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	57.0	46.0	50.0		911,686	4.5	0.9	14	dbSNP_134	50	0,8600		0,0,4300	no	missense,missense	COQ6	NM_182476.2,NM_182480.2	81,81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	304/469,229/394	74427895	1,13005	2203	4300	6503	SO:0001583	missense	51004				ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen	g.chr14:74427895C>T	AF132944	CCDS9823.1, CCDS9824.1, CCDS9824.2	14q24.1	2013-05-01	2013-05-01		ENSG00000119723	ENSG00000119723			20233	protein-coding gene	gene with protein product		614647	"""coenzyme Q6 homolog (yeast)"", ""coenzyme Q6 homolog, monooxygenase (yeast)"", ""coenzyme Q6 homolog, monooxygenase (S. cerevisiae)"""			21540551	Standard	NM_182476		Approved	CGI-10	uc001xph.3	Q9Y2Z9	OTTHUMG00000171260	ENST00000334571.2:c.911C>T	14.37:g.74427895C>T	ENSP00000333946:p.Thr304Met					COQ6_ENST00000557780.1_3'UTR|COQ6_ENST00000238709.4_Missense_Mutation_p.T229M|COQ6_ENST00000394026.4_Missense_Mutation_p.T279M|ENTPD5_ENST00000557325.1_Intron|COQ6_ENST00000554920.1_Intron	p.T304M	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00337)	9	951	+			304					B7Z3K8|Q53GG6|Q86U30|Q96CA1|Q96CK2	Missense_Mutation	SNP	ENST00000334571.2	37	c.911C>T	CCDS9823.1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.723466	0.30593	2.27E-4	0.0	ENSG00000119723	ENST00000394026;ENST00000555376;ENST00000238709;ENST00000334571;ENST00000554320	T;T;T;T	0.52754	0.65;0.65;0.93;0.65	5.39	4.51	0.55191	.	0.208452	0.52532	D	0.000078	T	0.24967	0.0606	N	0.02916	-0.46	0.80722	D	1	B;B;B;B;B	0.30824	0.175;0.033;0.296;0.145;0.033	B;B;B;B;B	0.29862	0.108;0.005;0.085;0.065;0.005	T	0.12451	-1.0547	10	0.33940	T	0.23	-4.8713	14.1877	0.65617	0.0:0.9286:0.0:0.0714	.	279;304;229;229;229	B7Z3K8;Q9Y2Z9;G3V3A1;G3XA86;Q86U30	.;COQ6_HUMAN;.;.;.	M	279;229;229;304;229	ENSP00000377594:T279M;ENSP00000238709:T229M;ENSP00000333946:T304M;ENSP00000451123:T229M	ENSP00000238709:T229M	T	+	2	0	COQ6	73497648	1.000000	0.71417	0.861000	0.33841	0.268000	0.26511	4.828000	0.62730	1.525000	0.49052	0.650000	0.86243	ACG		0.512	COQ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412616.1			6	14	0	0	0	1	0	6	14				
RNF133	168433	broad.mit.edu	37	7	122338322	122338322	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr7:122338322C>G	ENST00000340112.2	-	1	888	c.651G>C	c.(649-651)agG>agC	p.R217S	CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	217					protein autoubiquitination (GO:0051865)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						GGTTCTGAATCCTTGCTAAAC	0.378																																					Colon(198;1778 2057 7449 19869 45985)	ENST00000340112.2																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						c.(649-651)agG>agC		ring finger protein 133							104.0	99.0	101.0					7																	122338322		2203	4300	6503	SO:0001583	missense	168433					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding	g.chr7:122338322C>G	AF447589	CCDS5784.1	7q31.33	2013-01-09			ENSG00000188050	ENSG00000188050		"""RING-type (C3HC4) zinc fingers"""	21154	protein-coding gene	gene with protein product							Standard	NM_139175		Approved		uc003vkj.1	Q8WVZ7	OTTHUMG00000157092	ENST00000340112.2:c.651G>C	7.37:g.122338322C>G	ENSP00000344489:p.Arg217Ser					CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron	p.R217S	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN			1	888	-			217					A4D0W2|Q8N7G7	Missense_Mutation	SNP	ENST00000340112.2	37	c.651G>C	CCDS5784.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.522514	0.27211	.	.	ENSG00000188050	ENST00000340112	T	0.17691	2.26	5.62	1.8	0.24995	.	0.274629	0.34555	N	0.003880	T	0.15652	0.0377	L	0.48986	1.54	0.43110	D	0.994813	P	0.47545	0.897	B	0.44163	0.443	T	0.07693	-1.0759	10	0.24483	T	0.36	.	8.1926	0.31376	0.0:0.5967:0.0:0.4033	.	217	Q8WVZ7	RN133_HUMAN	S	217	ENSP00000344489:R217S	ENSP00000344489:R217S	R	-	3	2	RNF133	122125558	0.001000	0.12720	0.992000	0.48379	0.641000	0.38312	0.040000	0.13905	0.314000	0.23086	0.561000	0.74099	AGG		0.378	RNF133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347413.1	NM_139175		53	136	0	0	0	1	0	53	136				
SLC32A1	140679	broad.mit.edu	37	20	37356207	37356207	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr20:37356207C>G	ENST00000217420.1	+	2	766	c.503C>G	c.(502-504)gCg>gGg	p.A168G		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	168					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	ATCCTCATCGCGTGCCTGTAC	0.642																																						ENST00000217420.1																			0				breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38						c.(502-504)gCg>gGg		solute carrier family 32 (GABA vesicular transporter), member 1	Glycine(DB00145)						78.0	63.0	68.0					20																	37356207		2203	4300	6503	SO:0001583	missense	140679				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	g.chr20:37356207C>G	AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"""Solute carriers"""	11018	protein-coding gene	gene with protein product			"""vesicular inhibitory amino acid transporter"""	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.503C>G	20.37:g.37356207C>G	ENSP00000217420:p.Ala168Gly						p.A168G	NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN			2	766	+		Myeloproliferative disorder(115;0.00878)	168					Q8N489	Missense_Mutation	SNP	ENST00000217420.1	37	c.503C>G	CCDS13307.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.160683	0.38119	.	.	ENSG00000101438	ENST00000217420	T	0.02345	4.33	4.13	4.13	0.48395	.	0.109437	0.64402	D	0.000008	T	0.03564	0.0102	L	0.29908	0.895	0.80722	D	1	B	0.16396	0.017	B	0.27262	0.078	T	0.50363	-0.8837	10	0.48119	T	0.1	-24.4172	14.2592	0.66073	0.0:1.0:0.0:0.0	.	168	Q9H598	VIAAT_HUMAN	G	168	ENSP00000217420:A168G	ENSP00000217420:A168G	A	+	2	0	SLC32A1	36789621	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	5.852000	0.69488	2.317000	0.78254	0.563000	0.77884	GCG		0.642	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1	NM_080552		11	54	0	0	0	1	0	11	54				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			34	54	0	0	0	1	0	34	54				
NIPBL	25836	broad.mit.edu	37	5	37044506	37044506	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr5:37044506C>G	ENST00000282516.8	+	35	6665	c.6166C>G	c.(6166-6168)Cca>Gca	p.P2056A	NIPBL_ENST00000448238.2_Missense_Mutation_p.P2056A	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2056					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GCTAGTTGTACCACTGATGGA	0.353																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	GRCh37	CM071042	NIPBL	M		c.(6166-6168)Cca>Gca		Nipped-B homolog (Drosophila)							89.0	87.0	88.0					5																	37044506		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37044506C>G	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.6166C>G	5.37:g.37044506C>G	ENSP00000282516:p.Pro2056Ala					NIPBL_ENST00000448238.2_Missense_Mutation_p.P2056A	p.P2056A	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		35	6665	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		2056					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.6166C>G	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.343621	0.82022	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	T;T	0.64085	-0.08;-0.08	5.58	4.71	0.59529	Armadillo-like helical (1);Armadillo-type fold (1);	0.058252	0.64402	D	0.000001	T	0.80270	0.4592	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.83488	0.0068	10	0.72032	D	0.01	-9.6836	14.6108	0.68514	0.0:0.9296:0.0:0.0704	.	2056;2056	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	A	2056	ENSP00000282516:P2056A;ENSP00000406266:P2056A	ENSP00000282516:P2056A	P	+	1	0	NIPBL	37080263	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.484000	0.81180	1.363000	0.46019	0.586000	0.80456	CCA		0.353	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		24	39	0	0	0	1	0	24	39				
TP53	7157	broad.mit.edu	37	17	7578534	7578534	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr17:7578534C>G	ENST00000269305.4	-	5	585	c.396G>C	c.(394-396)aaG>aaC	p.K132N	TP53_ENST00000359597.4_Missense_Mutation_p.K132N|TP53_ENST00000420246.2_Missense_Mutation_p.K132N|TP53_ENST00000455263.2_Missense_Mutation_p.K132N|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.K132N|TP53_ENST00000445888.2_Missense_Mutation_p.K132N	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	132	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1694291}.|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.K132N(49)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.K39N(2)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132K(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.M133fs*37(1)|p.M133fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCAAAACATCTTGTTGAGGG	0.562		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		77	Substitution - Missense(51)|Deletion - In frame(10)|Whole gene deletion(8)|Deletion - Frameshift(6)|Insertion - Frameshift(1)|Substitution - coding silent(1)	p.K132N(49)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.K39N(2)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132K(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.M133fs*37(1)|p.M133fs*16(1)	urinary_tract(13)|breast(10)|ovary(10)|lung(9)|large_intestine(8)|haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(4)|bone(4)|adrenal_gland(3)|upper_aerodigestive_tract(2)|skin(2)|liver(2)|stomach(1)|penis(1)|oesophagus(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(394-396)aaG>aaC	Other conserved DNA damage response genes	tumor protein p53							47.0	48.0	48.0					17																	7578534		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578534C>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.396G>C	17.37:g.7578534C>G	ENSP00000269305:p.Lys132Asn	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Missense_Mutation_p.K132N|TP53_ENST00000269305.4_Missense_Mutation_p.K132N|TP53_ENST00000359597.4_Missense_Mutation_p.K132N|TP53_ENST00000445888.2_Missense_Mutation_p.K132N|TP53_ENST00000455263.2_Missense_Mutation_p.K132N	p.K132N	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	528	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	132		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.396G>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.123172	0.77436	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793	D;D;D;D;D;D;D;D	0.99859	-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23	5.48	3.5	0.40072	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99857	0.9933	M	0.91768	3.24	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;0.998;0.993;0.996;0.999;0.998;1.0	D	0.97328	0.9948	10	0.87932	D	0	-14.0777	10.5581	0.45129	0.0:0.841:0.0:0.159	.	93;132;132;39;132;132;132	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	N	132;132;132;132;132;132;121;39;39;132	ENSP00000410739:K132N;ENSP00000352610:K132N;ENSP00000269305:K132N;ENSP00000398846:K132N;ENSP00000391127:K132N;ENSP00000391478:K132N;ENSP00000423862:K39N;ENSP00000424104:K132N	ENSP00000269305:K132N	K	-	3	2	TP53	7519259	1.000000	0.71417	0.994000	0.49952	0.784000	0.44337	1.646000	0.37249	0.804000	0.34136	0.655000	0.94253	AAG		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		24	13	0	0	0	1	0	24	13				
NIPBL	25836	broad.mit.edu	37	5	37046250	37046250	+	Missense_Mutation	SNP	T	T	G			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr5:37046250T>G	ENST00000282516.8	+	38	7037	c.6538T>G	c.(6538-6540)Ttt>Gtt	p.F2180V	NIPBL_ENST00000448238.2_Missense_Mutation_p.F2180V	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2180					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ATTGATGTATTTTACAAAACA	0.299																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(6538-6540)Ttt>Gtt		Nipped-B homolog (Drosophila)							76.0	84.0	81.0					5																	37046250		2198	4290	6488	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37046250T>G	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.6538T>G	5.37:g.37046250T>G	ENSP00000282516:p.Phe2180Val					NIPBL_ENST00000448238.2_Missense_Mutation_p.F2180V	p.F2180V	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		38	7037	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		2180					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.6538T>G	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.712341	0.89112	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	T;T	0.64803	-0.12;-0.12	5.41	5.41	0.78517	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80742	0.4681	M	0.83384	2.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.84046	0.0367	10	0.87932	D	0	-11.3868	15.4341	0.75129	0.0:0.0:0.0:1.0	.	2180;2180	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	V	2180	ENSP00000282516:F2180V;ENSP00000406266:F2180V	ENSP00000282516:F2180V	F	+	1	0	NIPBL	37082007	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.581000	0.82535	2.049000	0.60858	0.460000	0.39030	TTT		0.299	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		11	77	0	0	0	1	0	11	77				
SNRNP200	23020	broad.mit.edu	37	2	96970602	96970602	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr2:96970602G>A	ENST00000323853.5	-	2	127	c.50C>T	c.(49-51)tCg>tTg	p.S17L	AC021188.4_ENST00000421534.1_RNA|SNRNP200_ENST00000349783.5_Missense_Mutation_p.S17L	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	17					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CACAAGATTCGAGTTCTGAAA	0.488																																						ENST00000323853.5																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						c.(49-51)tCg>tTg		small nuclear ribonucleoprotein 200kDa (U5)							47.0	43.0	44.0					2																	96970602		2203	4300	6503	SO:0001583	missense	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96970602G>A	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.50C>T	2.37:g.96970602G>A	ENSP00000317123:p.Ser17Leu					SNRNP200_ENST00000349783.5_Missense_Mutation_p.S17L	p.S17L	NM_014014.4	NP_054733.2	O75643	U520_HUMAN			2	127	-			17					O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	c.50C>T	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	G	33	5.196510	0.94960	.	.	ENSG00000144028	ENST00000323853;ENST00000349783	T;T	0.50001	0.76;0.76	5.64	5.64	0.86602	.	0.133513	0.53938	D	0.000059	T	0.62048	0.2396	M	0.92970	3.365	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.65524	-0.6147	10	0.87932	D	0	-5.128	18.4682	0.90763	0.0:0.0:1.0:0.0	.	17	O75643	U520_HUMAN	L	17	ENSP00000317123:S17L;ENSP00000326937:S17L	ENSP00000317123:S17L	S	-	2	0	SNRNP200	96334329	1.000000	0.71417	0.966000	0.40874	0.702000	0.40608	9.309000	0.96252	2.658000	0.90341	0.563000	0.77884	TCG		0.488	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		7	21	0	0	0	1	0	7	21				
ZNF208	7757	broad.mit.edu	37	19	22154888	22154888	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr19:22154888C>G	ENST00000397126.4	-	4	3096	c.2948G>C	c.(2947-2949)aGt>aCt	p.S983T	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	983					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGAGAATGTACTAAAGCCTTT	0.358																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(2947-2949)aGt>aCt		zinc finger protein 208							52.0	55.0	54.0					19																	22154888		2101	4240	6341	SO:0001583	missense	7757							g.chr19:22154888C>G	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2948G>C	19.37:g.22154888C>G	ENSP00000380315:p.Ser983Thr					ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	p.S983T	NM_007153.3	NP_009084.2					4	3096	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.2948G>C	CCDS54240.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|c	0.003|0.003	-2.555032|-2.555032	0.00138|0.00138	.|.	.|.	ENSG00000160321|ENSG00000160321	ENST00000428290|ENST00000397126	.|T	.|0.17854	.|2.25	2.89|2.89	-5.77|-5.77	0.02369|0.02369	.|.	.|.	.|.	.|.	.|.	.|T	.|0.05318	.|0.0141	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.33523	.|-0.9865	.|6	.|0.11182	.|T	.|0.66	.|.	1.5849|1.5849	0.02642|0.02642	0.1783:0.2779:0.3384:0.2054|0.1783:0.2779:0.3384:0.2054	.|.	.|.	.|.	.|.	.|T	-1|983	.|ENSP00000380315:S983T	.|ENSP00000380315:S983T	.|S	-|-	.|2	.|0	ZNF208|ZNF208	21946728|21946728	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-0.367000|-0.367000	0.07553|0.07553	-2.664000|-2.664000	0.00417|0.00417	-0.791000|-0.791000	0.03333|0.03333	.|AGT		0.358	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		5	54	0	0	0	1	0	5	54				
NCF4	4689	broad.mit.edu	37	22	37268425	37268425	+	Missense_Mutation	SNP	T	T	A			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr22:37268425T>A	ENST00000248899.6	+	7	769	c.585T>A	c.(583-585)gaT>gaA	p.D195E	CTA-833B7.2_ENST00000431290.1_RNA|CTA-833B7.2_ENST00000330602.2_RNA|NCF4_ENST00000397147.4_Missense_Mutation_p.D195E	NM_000631.4	NP_000622.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	195	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|positive regulation of catalytic activity (GO:0043085)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|membrane (GO:0016020)|NADPH oxidase complex (GO:0043020)|phagolysosome (GO:0032010)	phosphatidylinositol-3-phosphate binding (GO:0032266)|protein dimerization activity (GO:0046983)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16					Dextromethorphan(DB00514)	AAGCTGGAGATGTGATCTTCC	0.478																																						ENST00000397147.4																			0				cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(583-585)gaT>gaA		neutrophil cytosolic factor 4, 40kDa							89.0	84.0	86.0					22																	37268425		2203	4300	6503	SO:0001583	missense	4689				cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity	g.chr22:37268425T>A	X77094	CCDS13934.1, CCDS13935.1	22q13.1	2014-09-17	2002-08-29		ENSG00000100365	ENSG00000100365			7662	protein-coding gene	gene with protein product	"""neutrophil NADPH oxidase factor 4"""	601488	"""neutrophil cytosolic factor 4 (40kD)"""			8839867	Standard	NM_013416		Approved	p40phox, SH3PXD4	uc003apy.4	Q15080	OTTHUMG00000150548	ENST00000248899.6:c.585T>A	22.37:g.37268425T>A	ENSP00000248899:p.Asp195Glu					NCF4_ENST00000248899.6_Missense_Mutation_p.D195E	p.D195E	NM_013416.3	NP_038202.2	Q15080	NCF4_HUMAN			7	769	+			195			SH3.		A8K4F9|O60808|Q86U56|Q9BU98|Q9NP45	Missense_Mutation	SNP	ENST00000248899.6	37	c.585T>A	CCDS13934.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.88|13.88	2.368614|2.368614	0.42003|0.42003	.|.	.|.	ENSG00000100365|ENSG00000100365	ENST00000415063|ENST00000447071;ENST00000248899;ENST00000397147	.|T;T;T	.|0.59364	.|0.27;0.27;0.27	4.79|4.79	1.44|1.44	0.22558|0.22558	.|Src homology-3 domain (4);	.|0.159852	.|0.53938	.|D	.|0.000045	T|T	0.50309|0.50309	0.1608|0.1608	L|L	0.48877|0.48877	1.53|1.53	0.43091|0.43091	D|D	0.994762|0.994762	.|B;B	.|0.32862	.|0.387;0.212	.|B;B	.|0.39805	.|0.31;0.147	T|T	0.34700|0.34700	-0.9818|-0.9818	5|10	.|0.32370	.|T	.|0.25	-27.5932|-27.5932	9.0144|9.0144	0.36161|0.36161	0.0:0.6137:0.0:0.3863|0.0:0.6137:0.0:0.3863	.|.	.|195;195	.|A8K4F9;Q15080	.|.;NCF4_HUMAN	S|E	59|92;195;195	.|ENSP00000414958:D92E;ENSP00000248899:D195E;ENSP00000380334:D195E	.|ENSP00000248899:D195E	C|D	+|+	1|3	0|2	NCF4|NCF4	35598371|35598371	0.064000|0.064000	0.20934|0.20934	0.997000|0.997000	0.53966|0.53966	0.958000|0.958000	0.62258|0.62258	-1.000000|-1.000000	0.03693|0.03693	0.028000|0.028000	0.15324|0.15324	-0.290000|-0.290000	0.09829|0.09829	TGT|GAT		0.478	NCF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318863.1	NM_000631		27	67	0	0	0	1	0	27	67				
ZNF551	90233	broad.mit.edu	37	19	58199603	58199603	+	Missense_Mutation	SNP	C	C	T	rs139249482		TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr19:58199603C>T	ENST00000282296.5	+	3	2145	c.1960C>T	c.(1960-1962)Cgc>Tgc	p.R654C	ZNF551_ENST00000596085.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.R638C|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron			Q7Z340	ZN551_HUMAN	zinc finger protein 551	654					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ATCCTTTAGCCGCAAATCTAA	0.418													C|||	1	0.000199681	0.0	0.0	5008	,	,		22327	0.001		0.0	False		,,,				2504	0.0					ENST00000282296.5																			0				endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15						c.(1960-1962)Cgc>Tgc		zinc finger protein 551		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	94.0	92.0	93.0		1912	-2.2	0.0	19	dbSNP_134	93	0,8600		0,0,4300	no	missense	ZNF551	NM_138347.3	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	638/655	58199603	1,13005	2203	4300	6503	SO:0001583	missense	90233				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58199603C>T	BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"""Zinc fingers, C2H2-type"", ""-"""	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.1960C>T	19.37:g.58199603C>T	ENSP00000282296:p.Arg654Cys					AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000596085.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.R638C	p.R654C	NM_001270938.1	NP_001257867.1	Q7Z340	ZN551_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	2145	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	654					B4DU22|P17034|Q8N246|Q9BRY1	Missense_Mutation	SNP	ENST00000282296.5	37	c.1960C>T	CCDS12959.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.32	2.202558	0.38905	2.27E-4	0.0	ENSG00000204519	ENST00000356715;ENST00000282296	.	.	.	2.86	-2.16	0.07080	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24236	0.0587	L	0.54965	1.715	0.09310	N	1	P	0.34629	0.46	B	0.25884	0.064	T	0.10683	-1.0619	8	0.37606	T	0.19	.	4.6211	0.12450	0.0:0.5292:0.161:0.3097	.	654	Q7Z340	ZN551_HUMAN	C	654;638	.	ENSP00000282296:R638C	R	+	1	0	ZNF551	62891415	0.000000	0.05858	0.000000	0.03702	0.092000	0.18411	-5.461000	0.00120	-0.532000	0.06332	0.561000	0.74099	CGC		0.418	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466803.2	NM_138347		11	116	0	0	0	1	0	11	116				
PROKR2	128674	broad.mit.edu	37	20	5294667	5294667	+	Missense_Mutation	SNP	G	G	A	rs142008002		TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr20:5294667G>A	ENST00000217270.3	-	1	348	c.349C>T	c.(349-351)Cgg>Tgg	p.R117W	PROKR2_ENST00000546004.1_Missense_Mutation_p.R117W	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	117					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						GAGAGCTGCCGTACCACGTAG	0.597										HNSCC(71;0.22)																												ENST00000546004.1																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						c.(349-351)Cgg>Tgg		prokineticin receptor 2		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	132.0	100.0	111.0		349	4.3	0.6	20	dbSNP_134	111	1,8599	1.2+/-3.3	0,1,4299	no	missense	PROKR2	NM_144773.2	101	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	117/385	5294667	2,13004	2203	4300	6503	SO:0001583	missense	128674					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr20:5294667G>A	AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"""GPCR / Class A : Prokineticin receptors"""	15836	protein-coding gene	gene with protein product		607123	"""G protein-coupled receptor 73-like 1"", ""Kallmann syndrome 3 (autosomal dominant)"""	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.349C>T	20.37:g.5294667G>A	ENSP00000217270:p.Arg117Trp	HNSCC(71;0.22)				PROKR2_ENST00000217270.3_Missense_Mutation_p.R117W	p.R117W			Q8NFJ6	PKR2_HUMAN			2	595	-			117					A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	SNP	ENST00000217270.3	37	c.349C>T	CCDS13089.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.103537	0.37145	2.27E-4	1.16E-4	ENSG00000101292	ENST00000546004;ENST00000217270	T;T	0.37915	1.17;1.17	5.3	4.35	0.52113	GPCR, rhodopsin-like superfamily (1);	0.180511	0.49916	D	0.000134	T	0.49660	0.1570	L	0.58354	1.805	0.27347	N	0.956344	D	0.69078	0.997	P	0.59761	0.863	T	0.45220	-0.9276	10	0.62326	D	0.03	.	11.5014	0.50439	0.0:0.0:0.6738:0.3262	.	117	Q8NFJ6	PKR2_HUMAN	W	117	ENSP00000440790:R117W;ENSP00000217270:R117W	ENSP00000217270:R117W	R	-	1	2	PROKR2	5242667	0.998000	0.40836	0.644000	0.29465	0.127000	0.20565	4.139000	0.58024	1.374000	0.46228	-0.133000	0.14855	CGG		0.597	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773		12	36	0	0	0	1	0	12	36				
KRTCAP3	200634	broad.mit.edu	37	2	27665758	27665758	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr2:27665758G>A	ENST00000543753.1	+	3	310	c.263G>A	c.(262-264)cGc>cAc	p.R88H	KRTCAP3_ENST00000288873.3_Missense_Mutation_p.R88H|KRTCAP3_ENST00000407293.1_Missense_Mutation_p.R70H	NM_001168364.1	NP_001161836.1	Q53RY4	KCP3_HUMAN	keratinocyte associated protein 3	88						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)	3	Acute lymphoblastic leukemia(172;0.155)					AACCTTCTTCGCCCTCCACTG	0.587																																						ENST00000543753.1																			0				large_intestine(1)|lung(2)	3						c.(262-264)cGc>cAc		keratinocyte associated protein 3							40.0	45.0	43.0					2																	27665758		2203	4300	6503	SO:0001583	missense	200634					integral to membrane		g.chr2:27665758G>A	AY157576	CCDS1754.1	2p23.3	2008-02-05			ENSG00000157992	ENSG00000157992			28943	protein-coding gene	gene with protein product							Standard	NM_173853		Approved	KCP3	uc002rks.3	Q53RY4	OTTHUMG00000097782	ENST00000543753.1:c.263G>A	2.37:g.27665758G>A	ENSP00000442400:p.Arg88His					KRTCAP3_ENST00000288873.3_Missense_Mutation_p.R88H|KRTCAP3_ENST00000407293.1_Missense_Mutation_p.R70H	p.R88H	NM_001168364.1	NP_001161836.1	Q53RY4	KCP3_HUMAN			3	310	+	Acute lymphoblastic leukemia(172;0.155)		88					B7ZL49|Q6UW42|Q8IWS5	Missense_Mutation	SNP	ENST00000543753.1	37	c.263G>A	CCDS1754.1	.	.	.	.	.	.	.	.	.	.	G	9.773	1.173132	0.21704	.	.	ENSG00000157992	ENST00000543753;ENST00000288873;ENST00000407293	T;T;T	0.44482	0.92;0.92;0.92	5.06	-0.558	0.11796	.	0.844883	0.10708	N	0.643142	T	0.25865	0.0630	L	0.29908	0.895	0.24709	N	0.993217	B	0.06786	0.001	B	0.06405	0.002	T	0.19614	-1.0300	10	0.37606	T	0.19	-12.9724	4.5984	0.12341	0.2342:0.0:0.3824:0.3834	.	88	Q53RY4	KCP3_HUMAN	H	88;88;70	ENSP00000442400:R88H;ENSP00000288873:R88H;ENSP00000384689:R70H	ENSP00000288873:R88H	R	+	2	0	KRTCAP3	27519262	0.000000	0.05858	0.019000	0.16419	0.988000	0.76386	-0.625000	0.05534	0.024000	0.15214	0.561000	0.74099	CGC		0.587	KRTCAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215025.1	NM_173853		12	91	0	0	0	1	0	12	91				
KRTAP4-8	728224	broad.mit.edu	37	17	39254054	39254054	+	Missense_Mutation	SNP	A	A	T	rs76270529		TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr17:39254054A>T	ENST00000333822.4	-	1	339	c.283T>A	c.(283-285)Tgc>Agc	p.C95S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	95	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.C95S(4)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgcagcagcTAGGG	0.677																																						ENST00000333822.4																			4	Substitution - Missense(4)	p.C95S(4)	endometrium(3)|kidney(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						c.(283-285)Tgc>Agc		keratin associated protein 4-8							7.0	11.0	10.0					17																	39254054		685	1582	2267	SO:0001583	missense	728224					keratin filament		g.chr17:39254054A>T	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"""Keratin associated proteins"""	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.283T>A	17.37:g.39254054A>T	ENSP00000328444:p.Cys95Ser						p.C95S	NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN			1	339	-			95			25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].		A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	c.283T>A	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	15.18	2.755714	0.49362	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.02280	4.36	3.11	2.01	0.26516	.	0.000000	0.52532	U	0.000067	T	0.04497	0.0123	M	0.83223	2.63	0.25182	N	0.99019	B	0.21606	0.058	B	0.27887	0.084	T	0.21793	-1.0235	10	0.54805	T	0.06	.	6.3859	0.21559	0.8715:0.0:0.1285:0.0	.	95	Q9BYQ9	KRA48_HUMAN	S	95;80	ENSP00000328444:C95S	ENSP00000414561:C80S	C	-	1	0	KRTAP4-8	36507580	0.999000	0.42202	0.393000	0.26258	0.649000	0.38597	3.122000	0.50446	0.404000	0.25506	0.374000	0.22700	TGC		0.677	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		4	50	0	0	0	1	0	4	50				
UNC5CL	222643	broad.mit.edu	37	6	41002719	41002719	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr6:41002719C>T	ENST00000373164.1	-	1	155	c.95G>A	c.(94-96)cGa>cAa	p.R32Q	UNC5CL_ENST00000470102.1_5'Flank|UNC5CL_ENST00000244565.3_Missense_Mutation_p.R32Q			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	32					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|proteolysis (GO:0006508)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	peptidase activity (GO:0008233)			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCAGTGCCATCGAAGGCATTG	0.587																																						ENST00000244565.3																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13						c.(94-96)cGa>cAa		unc-5 homolog C (C. elegans)-like							63.0	58.0	60.0					6																	41002719		2203	4300	6503	SO:0001583	missense	222643				signal transduction	cytoplasm|integral to membrane		g.chr6:41002719C>T	BC035284	CCDS4847.1	6p21.1	2013-10-15			ENSG00000124602	ENSG00000124602			21203	protein-coding gene	gene with protein product	"""ZU5 and death domain containing"""					14769797	Standard	NM_173561		Approved	MGC34763, ZUD	uc003opi.3	Q8IV45	OTTHUMG00000014665	ENST00000373164.1:c.95G>A	6.37:g.41002719C>T	ENSP00000362258:p.Arg32Gln					UNC5CL_ENST00000373164.1_Missense_Mutation_p.R32Q	p.R32Q	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN			2	183	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		32					Q5TGU1	Missense_Mutation	SNP	ENST00000373164.1	37	c.95G>A	CCDS4847.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.687667	0.48097	.	.	ENSG00000124602	ENST00000244565;ENST00000373164	T;T	0.14766	2.48;2.48	4.49	1.44	0.22558	.	0.444527	0.17282	N	0.179977	T	0.03178	0.0093	L	0.27053	0.805	0.40197	D	0.977475	B	0.18610	0.029	B	0.06405	0.002	T	0.21143	-1.0254	10	0.66056	D	0.02	-2.4132	5.6706	0.17721	0.0:0.6357:0.0:0.3643	.	32	Q8IV45	UN5CL_HUMAN	Q	32	ENSP00000244565:R32Q;ENSP00000362258:R32Q	ENSP00000244565:R32Q	R	-	2	0	UNC5CL	41110697	0.320000	0.24616	0.945000	0.38365	0.963000	0.63663	0.508000	0.22692	0.525000	0.28522	0.563000	0.77884	CGA		0.587	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040491.1	NM_173561		10	45	0	0	0	1	0	10	45				
RP11-404F10.2	0	broad.mit.edu	37	1	160640798	160640798	+	RNA	DEL	T	T	-			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr1:160640798delT	ENST00000443928.2	+	0	0				RP11-404F10.2_ENST00000598917.2_RNA|RP11-404F10.2_ENST00000588034.1_RNA																							TTCTGAACAATTTTTTTTTTA	0.428																																						ENST00000598917.1																			0																																																			0							g.chr1:160640798delT																													1.37:g.160640798delT														0	231	+									RNA	DEL	ENST00000443928.2	37																																																																																						0.428	RP11-404F10.2-001	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000060453.3			3	5						3	5	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237889610	237889611	+	Splice_Site	INS	-	-	A			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr1:237889610_237889611insA	ENST00000366574.2	+	75	11042		c.e75+2		RYR2_ENST00000360064.6_Splice_Site|RYR2_ENST00000542537.1_Splice_Site|RYR2_ENST00000609119.1_Splice_Site	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)						BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TACTGTCTGGGAAGTACAGTGC	0.312																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.e75+2		ryanodine receptor 2 (cardiac)																																				SO:0001630	splice_region_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237889610_237889611insA	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.10725+2->A	1.37:g.237889612_237889612dupA						RYR2_ENST00000360064.6_Splice_Site|RYR2_ENST00000542537.1_Splice_Site		NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		75	11042	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)						Q15411|Q546N8|Q5T3P2	Splice_Site	INS	ENST00000366574.2	37		CCDS55691.1																																																																																				0.312	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	Intron	2	4						2	4	---	---	---	---
TRBV29-1	28558	broad.mit.edu	37	7	142448200	142448207	+	RNA	DEL	GGTGGAAA	GGTGGAAA	-	rs56831387|rs112413030|rs76614416	byFrequency	TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr7:142448200_142448207delGGTGGAAA	ENST00000422143.2	+	0	101									T cell receptor beta variable 29-1																		GTTAACACTGGGTGGAAAGGTGGAAAGA	0.457														1983	0.395966	0.3812	0.5187	5008	,	,		21381	0.2222		0.5974	False		,,,				2504	0.3006					ENST00000422143.2																			0																	1374,2160		346,682,739						1.6	0.0		dbSNP_129	48	4141,3571		1278,1585,993	no	intergenic				1624,2267,1732	A1A1,A1R,RR		46.3045,38.8795,49.0397				5515,5731						0							g.chr7:142448200_142448207delGGTGGAAA	L36092		7q34	2012-02-07			ENSG00000232869	ENSG00000232869		"""T cell receptors / TRB locus"""	12210	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV291, TCRBV29S1, TCRBV4S1A1T			OTTHUMG00000158898		7.37:g.142448208_142448215delGGTGGAAA														0	101	+									RNA	DEL	ENST00000422143.2	37																																																																																						0.457	TRBV29-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352510.1	NG_001333		4	6						4	6	---	---	---	---
ISCA1	81689	broad.mit.edu	37	9	88897352	88897352	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr9:88897352delC	ENST00000375991.4	-	1	92	c.22delG	c.(22-24)gcafs	p.A8fs	ISCA1_ENST00000326094.4_Frame_Shift_Del_p.A8fs|ISCA1_ENST00000311534.6_5'Flank|ISCA1_ENST00000452279.2_Frame_Shift_Del_p.A55fs	NM_030940.3	NP_112202.2	Q9BUE6	ISCA1_HUMAN	iron-sulfur cluster assembly 1	8					iron-sulfur cluster assembly (GO:0016226)	mitochondrion (GO:0005739)	iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)	8				OV - Ovarian serous cystadenocarcinoma(323;5.4e-34)|Lung(182;0.0375)		CGGACAGTTGCCCGGACTAAG	0.711																																						ENST00000375991.4																			0				endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)	8						c.(22-24)cafs		iron-sulfur cluster assembly 1							7.0	7.0	7.0					9																	88897352		2131	4166	6297	SO:0001589	frameshift_variant	81689				iron-sulfur cluster assembly	mitochondrion	iron-sulfur cluster binding|metal ion binding|structural molecule activity	g.chr9:88897352delC	AF038186	CCDS35056.1	9q22.1	2013-08-06	2013-08-06	2007-01-18	ENSG00000135070	ENSG00000135070			28660	protein-coding gene	gene with protein product		611006	"""HESB like domain containing 2"", ""iron-sulfur cluster assembly 1 homolog (S. cerevisiae)"""	HBLD2		15262227, 22323289	Standard	NM_030940		Approved	MGC4276, ISA1, hIscA	uc004aop.3	Q9BUE6	OTTHUMG00000020135	ENST00000375991.4:c.22delG	9.37:g.88897352delC	ENSP00000365159:p.Ala8fs					ISCA1_ENST00000452279.2_Frame_Shift_Del_p.A55fs|ISCA1_ENST00000326094.4_Frame_Shift_Del_p.A8fs	p.A8fs	NM_030940.3	NP_112202.2	Q9BUE6	ISCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;5.4e-34)|Lung(182;0.0375)	1	92	-			8					B3KP34|B4DJI5|Q8ND75|Q9BZR2	Frame_Shift_Del	DEL	ENST00000375991.4	37	c.22delG	CCDS35056.1																																																																																				0.711	ISCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052914.1	NM_030940		2	4						2	4	---	---	---	---
RTL1	388015	broad.mit.edu	37	14	101350670	101350671	+	In_Frame_Ins	INS	-	-	TCT	rs55755518|rs397823434|rs35401447	byFrequency	TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr14:101350670_101350671insTCT	ENST00000534062.1	-	1	513_514	c.455_456insAGA	c.(454-456)gag>gaAGAg	p.152_152E>EE	MIR127_ENST00000384876.1_RNA|MIR433_ENST00000384837.1_RNA|MIR136_ENST00000385207.1_RNA|MIR432_ENST00000606207.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	152					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TCTGGTTTTGCTCTTGAGGAGT	0.52														784	0.15655	0.0847	0.1902	5008	,	,		20517	0.0575		0.2684	False		,,,				2504	0.2168					ENST00000534062.1																			0				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						c.(454-456)gca>gAGAca		retrotransposon-like 1				459,3511		59,341,1585						2.5	0.0		dbSNP_126	223	2155,5335		412,1331,2002	no	coding	RTL1	NM_001134888.2		471,1672,3587	A1A1,A1R,RR		28.7717,11.5617,22.8098				2614,8846				SO:0001652	inframe_insertion	388015							g.chr14:101350670_101350671insTCT		CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.453_455dupAGA	14.37:g.101350671_101350673dupTCT	ENSP00000435342:p.Glu152dup						p.152_152A>ET	NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN			1	513_514	-			152					E9PKS8	In_Frame_Ins	INS	ENST00000534062.1	37	c.455_456insAGA	CCDS53910.1																																																																																				0.520	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1	NM_001134888		4	5						4	5	---	---	---	---
