#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
PIGP	51227	broad.mit.edu	37	21	38444872	38444872	+	Missense_Mutation	SNP	T	T	G			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr21:38444872T>G	ENST00000464265.1	-	1	239	c.16A>C	c.(16-18)Aca>Cca	p.T6P	PIGP_ENST00000360525.4_Intron|TTC3_ENST00000355666.1_5'Flank|TTC3_ENST00000540756.1_5'Flank|PIGP_ENST00000399103.1_Intron|PIGP_ENST00000399098.1_Intron|TTC3_ENST00000399010.1_5'Flank|PIGP_ENST00000399102.1_Intron|PIGP_ENST00000329667.3_5'Flank	NM_153681.2	NP_710148.1	P57054	PIGP_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class P	6					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			kidney(1)|urinary_tract(1)	2		Myeloproliferative disorder(46;0.0412)				GCCAGCGATGTGCTCCGTGGC	0.607																																						ENST00000464265.1																			0				kidney(1)|urinary_tract(1)	2						c.(16-18)Aca>Cca		phosphatidylinositol glycan anchor biosynthesis, class P							143.0	143.0	143.0					21																	38444872		2203	4300	6503	SO:0001583	missense	51227				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity	g.chr21:38444872T>G	AB037162	CCDS13649.1, CCDS13650.1	21q22.2	2013-02-26	2006-06-28	2005-11-10	ENSG00000185808	ENSG00000185808	2.4.1.198	"""Phosphatidylinositol glycan anchor biosynthesis"""	3046	protein-coding gene	gene with protein product	"""phosphatidylinositol-n-acetylglucosaminyltranferase subunit"""	605938	"""Down syndrome critical region gene 5"", ""phosphatidylinositol glycan, class P"""	DSCR5		10814524, 15221505	Standard	NR_028352		Approved	DCRC, DSRC	uc002yvw.1	P57054	OTTHUMG00000086653	ENST00000464265.1:c.16A>C	21.37:g.38444872T>G	ENSP00000420037:p.Thr6Pro					PIGP_ENST00000399098.1_Intron|PIGP_ENST00000360525.3_Intron|PIGP_ENST00000399103.1_Intron|PIGP_ENST00000399102.1_Intron	p.T6P	NM_153681.2	NP_710148.1	P57054	PIGP_HUMAN			1	239	-		Myeloproliferative disorder(46;0.0412)	6					B2RB18|B2RE99|B5BU92|D3DSG7|J3KR75|Q53Y28|Q96KI1|Q9NZA6	Missense_Mutation	SNP	ENST00000464265.1	37	c.16A>C	CCDS13649.1	.	.	.	.	.	.	.	.	.	.	T	12.07	1.826959	0.32329	.	.	ENSG00000185808	ENST00000464265	T	0.23754	1.89	4.31	-6.01	0.02199	.	3.218240	0.00901	N	0.002353	T	0.14227	0.0344	N	0.14661	0.345	0.09310	N	0.999994	B	0.16603	0.018	B	0.13407	0.009	T	0.33624	-0.9861	10	0.66056	D	0.02	12.9914	5.9864	0.19436	0.2752:0.5565:0.0:0.1682	.	6	P57054	PIGP_HUMAN	P	6	ENSP00000420037:T6P	ENSP00000420037:T6P	T	-	1	0	PIGP	37366742	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.062000	0.01390	-0.756000	0.04703	-0.468000	0.05107	ACA		0.607	PIGP-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000194769.2	NM_153681		49	36	0	0	0	1	0	49	36				
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867	byFrequency	TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr1:145302714A>G	ENST00000369339.3	+	5	592	c.339A>G	c.(337-339)ttA>ttG	p.L113L	NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000342960.5_Silent_p.L384L|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	384						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527																																						ENST00000342960.5																			6	Substitution - coding silent(6)	p.L113L(3)|p.L384L(3)	prostate(2)|kidney(2)|central_nervous_system(2)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(1150-1152)ttA>ttG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145302714A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.339A>G	1.37:g.145302714A>G						RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L	p.L384L	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	8	1187	+	all_hematologic(923;0.032)		384					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.1152A>G																																																																																					0.527	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		4	58	0	0	0	1	0	4	58				
UTRN	7402	broad.mit.edu	37	6	144761510	144761510	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr6:144761510C>T	ENST00000367545.3	+	12	1415	c.1415C>T	c.(1414-1416)gCt>gTt	p.A472V		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	472	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GATCTTGAGGCTGAACAGGTG	0.358																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(1414-1416)gCt>gTt		utrophin							120.0	118.0	118.0					6																	144761510		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144761510C>T	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.1415C>T	6.37:g.144761510C>T	ENSP00000356515:p.Ala472Val						p.A472V	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	12	1415	+		Ovarian(120;0.218)	472			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.1415C>T	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.933034	0.73442	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	T	0.55234	0.53	5.51	5.51	0.81932	.	0.253056	0.28146	N	0.016440	T	0.57021	0.2025	L	0.59436	1.845	0.80722	D	1	P	0.43024	0.798	P	0.51516	0.672	T	0.57081	-0.7872	10	0.54805	T	0.06	.	19.773	0.96379	0.0:1.0:0.0:0.0	.	472	P46939	UTRO_HUMAN	V	472	ENSP00000356515:A472V	ENSP00000356499:A472V	A	+	2	0	UTRN	144803203	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.751000	0.55165	2.756000	0.94617	0.650000	0.86243	GCT		0.358	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			8	29	0	0	0	1	0	8	29				
ACOT12	134526	broad.mit.edu	37	5	80640854	80640854	+	Missense_Mutation	SNP	T	T	G			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr5:80640854T>G	ENST00000307624.3	-	8	808	c.780A>C	c.(778-780)gaA>gaC	p.E260D	ACOT12_ENST00000508234.1_5'Flank	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	260	Acyl coenzyme A hydrolase 2.				acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		GAACTCCAACTTCAACACTGT	0.577																																						ENST00000307624.3																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23						c.(778-780)gaA>gaC		acyl-CoA thioesterase 12							61.0	57.0	58.0					5																	80640854		2203	4300	6503	SO:0001583	missense	134526				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity	g.chr5:80640854T>G	AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	24436	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 15"""	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.780A>C	5.37:g.80640854T>G	ENSP00000303246:p.Glu260Asp						p.E260D	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)	8	808	-		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)	260			Acyl coenzyme A hydrolase 2.		B3KVK9|Q5FWE9	Missense_Mutation	SNP	ENST00000307624.3	37	c.780A>C	CCDS4055.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.447249	0.84101	.	.	ENSG00000172497	ENST00000307624	T	0.23552	1.9	5.53	1.91	0.25777	Thioesterase superfamily (1);	0.055265	0.64402	D	0.000001	T	0.47911	0.1471	M	0.82823	2.61	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.41680	-0.9495	10	0.54805	T	0.06	-10.3803	7.9308	0.29901	0.0:0.3085:0.0:0.6915	.	260	Q8WYK0	ACO12_HUMAN	D	260	ENSP00000303246:E260D	ENSP00000303246:E260D	E	-	3	2	ACOT12	80676610	1.000000	0.71417	0.954000	0.39281	0.914000	0.54420	1.100000	0.31025	0.410000	0.25675	0.459000	0.35465	GAA		0.577	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254074.1	NM_130767		23	21	0	0	0	1	0	23	21				
LOC220729	220729	broad.mit.edu	37	3	197348634	197348634	+	RNA	SNP	G	G	C	rs370500896	byFrequency	TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr3:197348634G>C	ENST00000418868.1	-	0	625					NR_003266.2																						CAGCAGCACCGATGGGCCTGC	0.542													G|||	18	0.00359425	0.0	0.0	5008	,	,		22692	0.0		0.001	False		,,,				2504	0.0174					ENST00000418868.1																			0																																																			220729							g.chr3:197348634G>C																													3.37:g.197348634G>C								NR_003266.2						0	625	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.542	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			4	83	0	0	0	1	0	4	83				
H6PD	9563	broad.mit.edu	37	1	9322245	9322245	+	Silent	SNP	G	G	A			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr1:9322245G>A	ENST00000377403.2	+	4	1175	c.873G>A	c.(871-873)cgG>cgA	p.R291R	H6PD_ENST00000602477.1_Silent_p.R302R	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	291	Glucose 1-dehydrogenase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		CTGTGCTGCGGCACAAGCTTC	0.642																																						ENST00000377403.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(871-873)cgG>cgA		hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	NADH(DB00157)						50.0	49.0	49.0					1																	9322245		2203	4300	6503	SO:0001819	synonymous_variant	9563					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding	g.chr1:9322245G>A	AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"""glucose dehyrogenase"""	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.873G>A	1.37:g.9322245G>A						H6PD_ENST00000602477.1_Silent_p.R302R	p.R291R	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	4	1175	+	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	291			Glucose 1-dehydrogenase.		Q4TT33|Q66I35|Q68DT3	Silent	SNP	ENST00000377403.2	37	c.873G>A	CCDS101.1																																																																																				0.642	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2	NM_004285		3	20	0	0	0	1	0	3	20				
BMS1P20	96610	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	A	G	rs369741558		TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr22:22664186A>G	ENST00000426066.1	+	0	709					NR_027293.1				BMS1 pseudogene 20																		CAGATCAAGAAAGCACTCTGA	0.498																																						ENST00000426066.1																			0																																																			96610							g.chr22:22664186A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664186A>G								NR_027293.1						0	709	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.498	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	57	0	0	0	1	0	3	57				
CD101	9398	broad.mit.edu	37	1	117564514	117564514	+	Silent	SNP	T	T	C			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr1:117564514T>C	ENST00000256652.4	+	7	2395	c.2337T>C	c.(2335-2337)gcT>gcC	p.A779A	CD101_ENST00000369470.1_Silent_p.A779A	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	779	Ig-like C2-type 6.				cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ATCACTGTGCTGTGGAGGAAT	0.433																																						ENST00000256652.4																			0				NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(2335-2337)gcT>gcC		CD101 molecule							100.0	100.0	100.0					1																	117564514		2203	4300	6503	SO:0001819	synonymous_variant	9398				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr1:117564514T>C	Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5949	protein-coding gene	gene with protein product		604516	"""immunoglobulin superfamily, member 2"""	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.2337T>C	1.37:g.117564514T>C						CD101_ENST00000369470.1_Silent_p.A779A	p.A779A	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN			7	2395	+			779			Ig-like C2-type 6.		Q15856	Silent	SNP	ENST00000256652.4	37	c.2337T>C	CCDS891.1																																																																																				0.433	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	NM_004258		28	50	0	0	0	1	0	28	50				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		5	34	0	0	0	1	0	5	34				
ORC1	4998	broad.mit.edu	37	1	52859253	52859253	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr1:52859253C>T	ENST00000371568.3	-	6	1162	c.944G>A	c.(943-945)cGc>cAc	p.R315H	ORC1_ENST00000371566.1_Missense_Mutation_p.R315H	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	315					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear origin of replication recognition complex (GO:0005664)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R315H(1)		breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CAGGATTATGCGATGTTCAGG	0.468																																						ENST00000371568.3																			1	Substitution - Missense(1)	p.R315H(1)	lung(1)	breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(943-945)cGc>cAc		origin recognition complex, subunit 1							210.0	190.0	197.0					1																	52859253		2203	4300	6503	SO:0001583	missense	4998				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding	g.chr1:52859253C>T		CCDS566.1	1p32	2010-10-12	2010-10-12	2010-10-12	ENSG00000085840	ENSG00000085840		"""ATPases / AAA-type"""	8487	protein-coding gene	gene with protein product	"""origin recognition complex, subunit 1, S. cerevisiae, homolog-like"", ""origin recognition complex 1"", ""replication control protein 1"""	601902	"""origin recognition complex, subunit 1 (yeast homolog)-like"", ""origin recognition complex, subunit 1-like (yeast)"", ""origin recognition complex, subunit 1 homolog (S. cerevisiae)"""	ORC1L		8884289	Standard	NM_004153		Approved	HSORC1, PARC1	uc001ctu.3	Q13415	OTTHUMG00000008104	ENST00000371568.3:c.944G>A	1.37:g.52859253C>T	ENSP00000360623:p.Arg315His					ORC1_ENST00000371566.1_Missense_Mutation_p.R315H	p.R315H	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN			6	1162	-			315					D3DQ34|Q13471|Q5T0F5	Missense_Mutation	SNP	ENST00000371568.3	37	c.944G>A	CCDS566.1	.	.	.	.	.	.	.	.	.	.	C	9.988	1.230125	0.22542	.	.	ENSG00000085840	ENST00000371568;ENST00000371566	T;T	0.42131	0.98;0.98	4.12	-4.68	0.03309	.	2.624730	0.00644	N	0.000533	T	0.19525	0.0469	N	0.03115	-0.41	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17440	-1.0369	10	0.42905	T	0.14	6.0687	5.953	0.19257	0.0:0.4234:0.3045:0.2721	.	315;315	B7Z8H0;Q13415	.;ORC1_HUMAN	H	315	ENSP00000360623:R315H;ENSP00000360621:R315H	ENSP00000360621:R315H	R	-	2	0	ORC1	52631841	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.800000	0.04555	-0.945000	0.03681	-0.302000	0.09304	CGC		0.468	ORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022202.1	NM_004153		4	114	0	0	0	1	0	4	114				
GLI3	2737	broad.mit.edu	37	7	42085066	42085066	+	Missense_Mutation	SNP	C	C	T	rs186337909	byFrequency	TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr7:42085066C>T	ENST00000395925.3	-	6	827	c.743G>A	c.(742-744)cGc>cAc	p.R248H	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	248					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						ATAGGGGCTGCGCTGGCCAGT	0.552									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				C|||	3	0.000599042	0.0023	0.0	5008	,	,		15770	0.0		0.0	False		,,,				2504	0.0					ENST00000395925.3																			0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(742-744)cGc>cAc		GLI family zinc finger 3							71.0	77.0	75.0					7																	42085066		2203	4300	6503	SO:0001583	missense	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42085066C>T		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.743G>A	7.37:g.42085066C>T	ENSP00000379258:p.Arg248His					GLI3_ENST00000479210.1_5'UTR	p.R248H	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			6	827	-			248					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.743G>A	CCDS5465.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	32	5.160255	0.94727	.	.	ENSG00000106571	ENST00000395925	T	0.69926	-0.44	5.58	5.58	0.84498	.	0.100233	0.64402	D	0.000002	T	0.47655	0.1457	L	0.40543	1.245	0.80722	D	1	P	0.46220	0.874	B	0.32864	0.154	T	0.56238	-0.8012	10	0.33141	T	0.24	.	19.5837	0.95482	0.0:1.0:0.0:0.0	.	248	P10071	GLI3_HUMAN	H	248	ENSP00000379258:R248H	ENSP00000379258:R248H	R	-	2	0	GLI3	42051591	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.447000	0.80620	2.630000	0.89119	0.655000	0.94253	CGC		0.552	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		59	61	0	0	0	1	0	59	61				
RAD51AP1	10635	broad.mit.edu	37	12	4665596	4665596	+	Missense_Mutation	SNP	G	G	C			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr12:4665596G>C	ENST00000352618.4	+	8	849	c.799G>C	c.(799-801)Gat>Cat	p.D267H	RAD51AP1_ENST00000321524.7_Intron|RAD51AP1_ENST00000543041.1_Missense_Mutation_p.D149H|RAD51AP1_ENST00000544931.1_Intron|RAD51AP1_ENST00000544927.1_Intron|RAD51AP1_ENST00000228843.9_Missense_Mutation_p.D284H	NM_006479.4	NP_006470.1			RAD51 associated protein 1											breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			TCTGTCTTCAGATACCACTAG	0.423																																						ENST00000228843.9																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13						c.(850-852)Gat>Cat		RAD51 associated protein 1							90.0	88.0	88.0					12																	4665596		2203	4300	6503	SO:0001583	missense	10635				double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding	g.chr12:4665596G>C	AF006259	CCDS8529.1, CCDS44805.1	12p13.2-p13.1	2004-09-16			ENSG00000111247	ENSG00000111247			16956	protein-coding gene	gene with protein product		603070				9396801	Standard	NM_001130862		Approved	PIR51	uc001qmw.3	Q96B01	OTTHUMG00000168125	ENST00000352618.4:c.799G>C	12.37:g.4665596G>C	ENSP00000309479:p.Asp267His					RAD51AP1_ENST00000544927.1_Intron|RAD51AP1_ENST00000544931.1_Intron|RAD51AP1_ENST00000543041.1_Missense_Mutation_p.D149H|RAD51AP1_ENST00000321524.7_Intron|RAD51AP1_ENST00000352618.4_Missense_Mutation_p.D267H	p.D284H	NM_001130862.1	NP_001124334.1	Q96B01	R51A1_HUMAN	Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)		9	900	+			284						Missense_Mutation	SNP	ENST00000352618.4	37	c.850G>C	CCDS8529.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.04|12.04	1.819569|1.819569	0.32145|0.32145	.|.	.|.	ENSG00000111247|ENSG00000111247	ENST00000536117|ENST00000543041;ENST00000228843;ENST00000352618	.|T;T;T	.|0.50548	.|1.49;0.74;0.74	4.51|4.51	3.59|3.59	0.41128|0.41128	.|.	.|0.863828	.|0.10057	.|N	.|0.721434	.|T	.|0.45155	.|0.1328	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	.|D;P;P;P	.|0.53151	.|0.958;0.699;0.699;0.846	.|P;B;B;P	.|0.51135	.|0.66;0.195;0.195;0.465	.|T	.|0.28170	.|-1.0052	.|10	.|0.66056	.|D	.|0.02	.|-3.3303	8.5551|8.5551	0.33476|0.33476	0.1077:0.0:0.8923:0.0|0.1077:0.0:0.8923:0.0	.|.	.|149;284;284;267	.|B4DUS5;Q96B01;A8K313;Q96B01-2	.|.;R51A1_HUMAN;.;.	.|H	-1|149;284;267	.|ENSP00000439960:D149H;ENSP00000228843:D284H;ENSP00000309479:D267H	.|ENSP00000228843:D284H	.|D	+|+	.|1	.|0	RAD51AP1|RAD51AP1	4535857|4535857	0.890000|0.890000	0.30428|0.30428	0.509000|0.509000	0.27700|0.27700	0.694000|0.694000	0.40290|0.40290	1.353000|1.353000	0.34045|0.34045	2.340000|2.340000	0.79590|0.79590	0.591000|0.591000	0.81541|0.81541	.|GAT		0.423	RAD51AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398293.1	NM_006479		22	52	0	0	0	1	0	22	52				
TINAG	27283	broad.mit.edu	37	6	54191706	54191706	+	Nonsense_Mutation	SNP	G	G	T			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr6:54191706G>T	ENST00000259782.4	+	4	712	c.616G>T	c.(616-618)Gaa>Taa	p.E206*	TINAG_ENST00000370869.3_Nonsense_Mutation_p.E202*|TINAG_ENST00000370864.3_Nonsense_Mutation_p.E188*	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	206					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GAGCATGAATGAAATGACAGT	0.368																																						ENST00000259782.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34						c.(616-618)Gaa>Taa		tubulointerstitial nephritis antigen							133.0	116.0	122.0					6																	54191706		2203	4300	6503	SO:0001587	stop_gained	27283				cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	g.chr6:54191706G>T	AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.616G>T	6.37:g.54191706G>T	ENSP00000259782:p.Glu206*					TINAG_ENST00000370864.3_Nonsense_Mutation_p.E188*|TINAG_ENST00000370869.3_Nonsense_Mutation_p.E202*	p.E206*	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.246)		4	712	+	Lung NSC(77;0.0518)		206					Q5T467|Q9UJW1|Q9ULZ4	Nonsense_Mutation	SNP	ENST00000259782.4	37	c.616G>T	CCDS4955.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.682241	0.88542	.	.	ENSG00000137251	ENST00000370869;ENST00000339741;ENST00000259782;ENST00000370864	.	.	.	5.7	4.84	0.62591	.	0.718598	0.13446	N	0.387242	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	10.6339	0.45554	0.088:0.0:0.912:0.0	.	.	.	.	X	202;156;206;188	.	ENSP00000259782:E206X	E	+	1	0	TINAG	54299665	0.999000	0.42202	0.982000	0.44146	0.992000	0.81027	2.073000	0.41519	1.417000	0.47077	0.643000	0.83706	GAA		0.368	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464		10	28	1	0	0.000442599	1	0.000454894	10	28				
MAGI1	9223	broad.mit.edu	37	3	65425585	65425585	+	Silent	SNP	C	C	T	rs374381483		TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr3:65425585C>T	ENST00000497477.2	-	9	1238	c.1239G>A	c.(1237-1239)caG>caA	p.Q413Q	MAGI1_ENST00000402939.2_Silent_p.Q413Q|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000483466.1_Silent_p.Q413Q|MAGI1_ENST00000330909.8_Silent_p.Q413Q			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	413	Poly-Gln.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		gctgctgctgctgctgttgct	0.537											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000330909.8																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(1237-1239)caG>caA		membrane associated guanylate kinase, WW and PDZ domain containing 1							58.0	58.0	58.0					3																	65425585		2194	4275	6469	SO:0001819	synonymous_variant	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65425585C>T	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.1239G>A	3.37:g.65425585C>T			OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1084	MAGI1_ENST00000497477.2_Silent_p.Q413Q|MAGI1_ENST00000402939.2_Silent_p.Q413Q|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000483466.1_Silent_p.Q413Q	p.Q413Q	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	9	1238	-		Lung NSC(201;0.0016)	413			Poly-Gln.		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Silent	SNP	ENST00000497477.2	37	c.1239G>A		.	.	.	.	.	.	.	.	.	.	c	3.068	-0.191851	0.06299	.	.	ENSG00000151276	ENST00000460329	.	.	.	3.77	0.926	0.19430	.	.	.	.	.	T	0.42539	0.1207	.	.	.	0.40284	D	0.978435	.	.	.	.	.	.	T	0.25537	-1.0129	4	.	.	.	.	1.7198	0.02909	0.14:0.458:0.1372:0.2649	.	.	.	.	N	294	.	.	S	-	2	0	MAGI1	65400625	0.998000	0.40836	0.281000	0.24762	0.028000	0.11728	0.481000	0.22260	0.070000	0.16634	-0.142000	0.14014	AGC		0.537	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		3	38	0	0	0	1	0	3	38				
UPF2	26019	broad.mit.edu	37	10	12071006	12071006	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr10:12071006T>C	ENST00000356352.2	-	2	1356	c.883A>G	c.(883-885)Att>Gtt	p.I295V	UPF2_ENST00000397053.2_Missense_Mutation_p.I295V|UPF2_ENST00000357604.5_Missense_Mutation_p.I295V			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	295	MIF4G 1.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TCAGCATTAATAATATTTTTT	0.368																																						ENST00000356352.2																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56						c.(883-885)Att>Gtt		UPF2 regulator of nonsense transcripts homolog (yeast)							63.0	63.0	63.0					10																	12071006		2203	4300	6503	SO:0001583	missense	26019				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding	g.chr10:12071006T>C	AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.883A>G	10.37:g.12071006T>C	ENSP00000348708:p.Ile295Val					UPF2_ENST00000357604.5_Missense_Mutation_p.I295V|UPF2_ENST00000397053.2_Missense_Mutation_p.I295V	p.I295V			Q9HAU5	RENT2_HUMAN			2	1356	-		Renal(717;0.228)	295			MIF4G 1.		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	ENST00000356352.2	37	c.883A>G	CCDS7086.1	.	.	.	.	.	.	.	.	.	.	T	15.95	2.983033	0.53827	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000379172;ENST00000397053;ENST00000313977	T;T;T	0.21543	2.0;2.0;2.0	6.17	5.03	0.67393	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.26304	0.0642	L	0.49455	1.56	0.80722	D	1	B;P	0.43477	0.106;0.808	B;P	0.46172	0.032;0.506	T	0.01051	-1.1468	10	0.39692	T	0.17	.	12.6751	0.56889	0.0:0.065:0.0:0.935	.	265;295	Q9HAU5-2;Q9HAU5	.;RENT2_HUMAN	V	295;295;265;295;265	ENSP00000348708:I295V;ENSP00000350221:I295V;ENSP00000380244:I295V	ENSP00000313617:I265V	I	-	1	0	UPF2	12111012	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.120000	0.64685	2.371000	0.80710	0.533000	0.62120	ATT		0.368	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			18	48	0	0	0	1	0	18	48				
MERTK	10461	broad.mit.edu	37	2	112722783	112722783	+	Missense_Mutation	SNP	C	C	T	rs35252762	byFrequency	TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr2:112722783C>T	ENST00000295408.4	+	5	1030	c.773C>T	c.(772-774)gCg>gTg	p.A258V	MERTK_ENST00000421804.2_Missense_Mutation_p.A258V|MERTK_ENST00000409780.1_Missense_Mutation_p.A82V			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	258	Ig-like C2-type 2.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						ACGGAGATGGCGGTCTTCAGT	0.502																																						ENST00000295408.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						c.(772-774)gCg>gTg		c-mer proto-oncogene tyrosine kinase							122.0	98.0	106.0					2																	112722783		2203	4300	6503	SO:0001583	missense	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112722783C>T	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.773C>T	2.37:g.112722783C>T	ENSP00000295408:p.Ala258Val					MERTK_ENST00000421804.2_Missense_Mutation_p.A258V|MERTK_ENST00000409780.1_Missense_Mutation_p.A82V	p.A258V			Q12866	MERTK_HUMAN			5	1030	+			258			Ig-like C2-type 2.		Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	c.773C>T	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.507892	0.85282	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000409780	T;T;T	0.38560	1.13;1.13;1.13	5.6	5.6	0.85130	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.244798	0.20989	U	0.082066	T	0.54727	0.1876	M	0.78916	2.43	0.47476	D	0.99943	D	0.53312	0.959	P	0.46237	0.508	T	0.62558	-0.6829	10	0.72032	D	0.01	-17.3431	19.2107	0.93753	0.0:1.0:0.0:0.0	.	258	Q12866	MERTK_HUMAN	V	258;258;82	ENSP00000295408:A258V;ENSP00000389152:A258V;ENSP00000387277:A82V	ENSP00000295408:A258V	A	+	2	0	MERTK	112439254	0.927000	0.31430	0.043000	0.18650	0.335000	0.28730	4.966000	0.63715	2.640000	0.89533	0.563000	0.77884	GCG		0.502	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			4	44	0	0	0	1	0	4	44				
CLK2	1196	broad.mit.edu	37	1	155234529	155234529	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr1:155234529G>A	ENST00000368361.4	-	9	1285	c.970C>T	c.(970-972)Cgg>Tgg	p.R324W	SCAMP3_ENST00000355379.3_5'Flank|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000355560.4_Missense_Mutation_p.R322W|CLK2_ENST00000361168.5_Missense_Mutation_p.R323W|CLK2_ENST00000536801.1_Missense_Mutation_p.R324W|SCAMP3_ENST00000302631.3_5'Flank			P49760	CLK2_HUMAN	CDC-like kinase 2	324	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCTACCACCCGCACAGCTGTG	0.532								Other conserved DNA damage response genes																														ENST00000368361.4																			0				endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22						c.(970-972)Cgg>Tgg	Other conserved DNA damage response genes	CDC-like kinase 2							117.0	102.0	107.0					1																	155234529		2203	4300	6503	SO:0001583	missense	1196					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:155234529G>A	L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"""CDC-like kinases"""	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.970C>T	1.37:g.155234529G>A	ENSP00000357345:p.Arg324Trp					CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000536801.1_Missense_Mutation_p.R324W|CLK2_ENST00000361168.5_Missense_Mutation_p.R323W|CLK2_ENST00000355560.4_Missense_Mutation_p.R322W	p.R324W			P49760	CLK2_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		9	1285	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		324			Protein kinase.		B1AVS9|B5MBX6|Q96CQ0	Missense_Mutation	SNP	ENST00000368361.4	37	c.970C>T		.	.	.	.	.	.	.	.	.	.	.	19.63	3.864222	0.71949	.	.	ENSG00000176444	ENST00000361168;ENST00000368361;ENST00000355560;ENST00000424156;ENST00000536801	T;T;T;T	0.21031	2.03;2.03;2.03;2.03	5.0	5.0	0.66597	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.40979	0.1139	M	0.85630	2.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.37244	-0.9714	10	0.87932	D	0	.	11.1193	0.48279	0.0:0.0:0.7243:0.2757	.	324;323	P49760;P49760-3	CLK2_HUMAN;.	W	323;324;322;96;324	ENSP00000354856:R323W;ENSP00000357345:R324W;ENSP00000347759:R322W;ENSP00000441023:R324W	ENSP00000347759:R322W	R	-	1	2	CLK2	153501153	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.161000	0.50747	2.767000	0.95098	0.650000	0.86243	CGG		0.532	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000087391.1	NM_003993		4	54	0	0	0	1	0	4	54				
HSDL2	84263	broad.mit.edu	37	9	115200815	115200815	+	Missense_Mutation	SNP	C	C	G			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr9:115200815C>G	ENST00000398805.3	+	7	930	c.703C>G	c.(703-705)Cca>Gca	p.P235A	HSDL2_ENST00000539114.1_Missense_Mutation_p.P30A|HSDL2_ENST00000398803.1_Missense_Mutation_p.P162A|HSDL2_ENST00000488101.1_3'UTR|HSDL2_ENST00000262542.7_Missense_Mutation_p.P115A	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	235						membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						TTTCCAAAAGCCAAAAAGTTT	0.358																																						ENST00000398805.3																			0				NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						c.(703-705)Cca>Gca		hydroxysteroid dehydrogenase like 2							77.0	70.0	72.0					9																	115200815		1828	4085	5913	SO:0001583	missense	84263					peroxisome	oxidoreductase activity|sterol binding	g.chr9:115200815C>G	AY093428	CCDS43864.1, CCDS56582.1	9q32	2011-09-14			ENSG00000119471	ENSG00000119471		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18572	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 13C, member 1"""		"""chromosome 9 open reading frame 99"""	C9orf99		12834046, 19027726	Standard	NM_032303		Approved	SDR13C1	uc004bga.2	Q6YN16	OTTHUMG00000020504	ENST00000398805.3:c.703C>G	9.37:g.115200815C>G	ENSP00000381785:p.Pro235Ala					HSDL2_ENST00000488101.1_3'UTR|HSDL2_ENST00000539114.1_Missense_Mutation_p.P30A|HSDL2_ENST00000398803.1_Missense_Mutation_p.P162A|HSDL2_ENST00000262542.7_Missense_Mutation_p.P115A	p.P235A	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN			7	930	+			235					A8K1L4|A8K8X1|A8MSV3|Q658M8|Q9BT58	Missense_Mutation	SNP	ENST00000398805.3	37	c.703C>G	CCDS43864.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.268625	0.80469	.	.	ENSG00000119471	ENST00000398805;ENST00000398803;ENST00000262542;ENST00000539114	D;D;T;T	0.89485	-2.52;-2.52;1.78;1.9	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.89136	0.6629	M	0.77313	2.365	0.80722	D	1	P;P	0.48503	0.911;0.822	B;B	0.38156	0.266;0.193	D	0.90230	0.4278	10	0.51188	T	0.08	.	19.5631	0.95380	0.0:1.0:0.0:0.0	.	162;235	Q6YN16-2;Q6YN16	.;HSDL2_HUMAN	A	235;162;115;30	ENSP00000381785:P235A;ENSP00000381783:P162A;ENSP00000262542:P115A;ENSP00000442278:P30A	ENSP00000262542:P115A	P	+	1	0	HSDL2	114240636	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.724000	0.68500	2.628000	0.89032	0.491000	0.48974	CCA		0.358	HSDL2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053681.1	NM_032303		20	43	0	0	0	1	0	20	43				
CNST	163882	broad.mit.edu	37	1	246754968	246754968	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr1:246754968C>T	ENST00000366513.4	+	2	373	c.104C>T	c.(103-105)gCa>gTa	p.A35V	CNST_ENST00000366512.3_Missense_Mutation_p.A35V|CNST_ENST00000483271.1_3'UTR	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	35					negative regulation of phosphatase activity (GO:0010923)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	connexin binding (GO:0071253)|phosphatase binding (GO:0019902)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						CTGCCTTCTGCATCAGATGAA	0.498																																						ENST00000366513.4																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						c.(103-105)gCa>gTa		consortin, connexin sorting protein							148.0	129.0	136.0					1																	246754968		2203	4300	6503	SO:0001583	missense	163882				positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding	g.chr1:246754968C>T	AK056563	CCDS1628.1, CCDS44343.1	1q44	2012-04-17	2009-11-03	2009-11-03	ENSG00000162852	ENSG00000162852		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26486	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 64"""	613439	"""chromosome 1 open reading frame 71"""	C1orf71		19864490	Standard	NM_152609		Approved	FLJ32001, PPP1R64	uc001ibp.3	Q6PJW8	OTTHUMG00000040090	ENST00000366513.4:c.104C>T	1.37:g.246754968C>T	ENSP00000355470:p.Ala35Val					CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Missense_Mutation_p.A35V	p.A35V	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN			2	373	+			35					Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Missense_Mutation	SNP	ENST00000366513.4	37	c.104C>T	CCDS1628.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.759866	0.31137	.	.	ENSG00000162852	ENST00000366513;ENST00000366512;ENST00000366511	T;T;T	0.13420	2.59;2.59;2.59	6.17	-0.332	0.12675	.	0.470518	0.20497	N	0.091172	T	0.08268	0.0206	N	0.22421	0.69	0.20638	N	0.999879	B;B	0.14012	0.009;0.009	B;B	0.15484	0.009;0.013	T	0.36311	-0.9753	10	0.21014	T	0.42	-15.8762	11.4496	0.50145	0.0:0.8016:0.0:0.1984	.	35;35	Q6PJW8;Q6PJW8-2	CNST_HUMAN;.	V	35	ENSP00000355470:A35V;ENSP00000355469:A35V;ENSP00000355468:A35V	ENSP00000355468:A35V	A	+	2	0	CNST	244821591	0.495000	0.26051	0.880000	0.34516	0.994000	0.84299	0.438000	0.21559	-0.056000	0.13221	0.655000	0.94253	GCA		0.498	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096780.1	NM_152609		17	64	0	0	0	1	0	17	64				
DYM	54808	broad.mit.edu	37	18	46858298	46858298	+	Silent	SNP	G	G	T			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr18:46858298G>T	ENST00000269445.6	-	8	1156	c.699C>A	c.(697-699)gcC>gcA	p.A233A	DYM_ENST00000442713.2_Intron|DYM_ENST00000578396.1_Silent_p.A78A	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	233					bone development (GO:0060348)|Golgi organization (GO:0007030)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	enzyme binding (GO:0019899)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						GGAAAACATGGGCCCCTGGAG	0.403																																						ENST00000269445.6																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						c.(697-699)gcC>gcA		dymeclin							95.0	101.0	99.0					18																	46858298		2203	4300	6503	SO:0001819	synonymous_variant	54808					Golgi apparatus		g.chr18:46858298G>T	AK000078	CCDS11937.1	18q21.1	2008-03-12			ENSG00000141627	ENSG00000141627			21317	protein-coding gene	gene with protein product		607461					Standard	NM_017653		Approved	FLJ20071, DMC, SMC	uc002ldi.1	Q7RTS9	OTTHUMG00000132659	ENST00000269445.6:c.699C>A	18.37:g.46858298G>T						DYM_ENST00000442713.2_Intron|DYM_ENST00000578396.1_Silent_p.A78A	p.A233A	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN			8	1156	-			233					A8K5I8|B2RCF9|B4DKI7|Q3ZTS8|Q6P2P5|Q8N2M0|Q9BVE9|Q9NPU7	Silent	SNP	ENST00000269445.6	37	c.699C>A	CCDS11937.1																																																																																				0.403	DYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255912.3	NM_017653		3	45	1	0	0.00024832	1	0.00026251	3	45				
RRAS2	22800	broad.mit.edu	37	11	14317330	14317330	+	Missense_Mutation	SNP	T	T	A			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr11:14317330T>A	ENST00000256196.4	-	2	493	c.180A>T	c.(178-180)agA>agT	p.R60S	RRAS2_ENST00000532814.1_5'UTR|RRAS2_ENST00000537760.1_Missense_Mutation_p.R25S|RRAS2_ENST00000534746.1_5'UTR|RRAS2_ENST00000529237.1_5'UTR|RRAS2_ENST00000526063.1_5'UTR|RRAS2_ENST00000545643.1_Missense_Mutation_p.R66S|RRAS2_ENST00000414023.2_5'UTR			P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2	60					osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12				Epithelial(150;0.203)		GCCGGGCTGCTCTGTCATCTA	0.308																																						ENST00000545643.1																			0				breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12						c.(196-198)agA>agT		related RAS viral (r-ras) oncogene homolog 2							130.0	135.0	133.0					11																	14317330		2200	4294	6494	SO:0001583	missense	22800					endoplasmic reticulum|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr11:14317330T>A	M31468	CCDS7814.1, CCDS44544.1, CCDS53603.1	11p15.2	2014-05-09			ENSG00000133818	ENSG00000133818			17271	protein-coding gene	gene with protein product		600098				2108320, 8052619	Standard	NM_012250		Approved	TC21	uc001mlf.4	P62070	OTTHUMG00000165756	ENST00000256196.4:c.180A>T	11.37:g.14317330T>A	ENSP00000256196:p.Arg60Ser					RRAS2_ENST00000534746.1_5'UTR|RRAS2_ENST00000532814.1_5'UTR|RRAS2_ENST00000526063.1_5'UTR|RRAS2_ENST00000529237.1_5'UTR|RRAS2_ENST00000537760.1_Missense_Mutation_p.R25S|RRAS2_ENST00000414023.2_5'UTR|RRAS2_ENST00000256196.4_Missense_Mutation_p.R60S	p.R66S	NM_012250.5	NP_036382.2	P62070	RRAS2_HUMAN		Epithelial(150;0.203)	2	511	-			60					B2R9Z3|B7Z5Z2|B7Z6C4|B7Z7H6|P17082	Missense_Mutation	SNP	ENST00000256196.4	37	c.198A>T	CCDS7814.1	.	.	.	.	.	.	.	.	.	.	T	13.53	2.264293	0.39995	.	.	ENSG00000133818	ENST00000537760;ENST00000545643;ENST00000256196;ENST00000531807	T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05	4.82	2.45	0.29901	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.58438	0.2122	N	0.13140	0.3	0.53688	D	0.999979	B;B	0.24618	0.093;0.107	B;B	0.30572	0.117;0.045	T	0.50074	-0.8870	10	0.59425	D	0.04	.	3.1341	0.06434	0.1786:0.3291:0.0:0.4923	.	66;60	B7Z5Z2;P62070	.;RRAS2_HUMAN	S	25;66;60;41	ENSP00000437547:R25S;ENSP00000441722:R66S;ENSP00000256196:R60S;ENSP00000435453:R41S	ENSP00000256196:R60S	R	-	3	2	RRAS2	14273906	1.000000	0.71417	0.988000	0.46212	0.754000	0.42855	1.623000	0.37008	0.279000	0.22186	0.260000	0.18958	AGA		0.308	RRAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386035.1	NM_012250		70	34	0	0	0	1	0	70	34				
GPNMB	10457	broad.mit.edu	37	7	23296635	23296635	+	Missense_Mutation	SNP	C	C	G			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr7:23296635C>G	ENST00000381990.2	+	4	653	c.492C>G	c.(490-492)caC>caG	p.H164Q	GPNMB_ENST00000539136.1_Missense_Mutation_p.H65Q|GPNMB_ENST00000409458.3_Missense_Mutation_p.H164Q|GPNMB_ENST00000453162.2_Intron|GPNMB_ENST00000258733.4_Missense_Mutation_p.H164Q	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	164					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			CTTTTCCTCACCACCCCGGAT	0.463																																						ENST00000258733.4																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41						c.(490-492)caC>caG		glycoprotein (transmembrane) nmb							132.0	117.0	122.0					7																	23296635		2203	4300	6503	SO:0001583	missense	10457				negative regulation of cell proliferation	melanosome		g.chr7:23296635C>G	X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"""transmembrane glycoprotein"", ""glycoprotein NMB"", ""glycoprotein nmb-like protein"", ""osteoactivin"""	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.492C>G	7.37:g.23296635C>G	ENSP00000371420:p.His164Gln					GPNMB_ENST00000453162.2_Intron|GPNMB_ENST00000381990.2_Missense_Mutation_p.H164Q|GPNMB_ENST00000409458.3_Missense_Mutation_p.H164Q|GPNMB_ENST00000539136.1_Missense_Mutation_p.H65Q	p.H164Q			Q14956	GPNMB_HUMAN	GBM - Glioblastoma multiforme(13;0.154)		4	787	+			164					A4D155|Q6UVX1|Q8N1A1	Missense_Mutation	SNP	ENST00000381990.2	37	c.492C>G	CCDS34610.1	.	.	.	.	.	.	.	.	.	.	C	8.669	0.902402	0.17760	.	.	ENSG00000136235	ENST00000258733;ENST00000435486;ENST00000381990;ENST00000409458;ENST00000539136	T;T;T;T	0.12569	2.67;2.67;2.67;2.67	5.04	0.976	0.19727	.	0.811587	0.11379	N	0.570057	T	0.08980	0.0222	L	0.38838	1.175	0.09310	N	0.999999	P;B;B;P	0.38767	0.646;0.112;0.019;0.646	B;B;B;B	0.35931	0.214;0.047;0.009;0.214	T	0.31833	-0.9929	10	0.19590	T	0.45	-0.0029	5.925	0.19108	0.0:0.4736:0.2654:0.261	.	65;164;164;164	F6SKP1;Q14956;Q14956-2;Q96F58	.;GPNMB_HUMAN;.;.	Q	164;199;164;164;65	ENSP00000258733:H164Q;ENSP00000371420:H164Q;ENSP00000386476:H164Q;ENSP00000445266:H65Q	ENSP00000258733:H164Q	H	+	3	2	GPNMB	23263160	0.004000	0.15560	0.001000	0.08648	0.528000	0.34623	0.433000	0.21477	0.215000	0.20761	-0.305000	0.09177	CAC		0.463	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340		21	81	0	0	0	1	0	21	81				
GOLGA8F	100132565	broad.mit.edu	37	15	28632820	28632820	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr15:28632820T>C	ENST00000450328.2	+	14	1632	c.734T>C	c.(733-735)cTg>cCg	p.L245P	GOLGA8F_ENST00000526619.2_Missense_Mutation_p.L249P|AC091304.1_ENST00000408123.1_RNA|GOLGA8F_ENST00000532622.2_Missense_Mutation_p.L463P|RN7SL238P_ENST00000465782.2_RNA|GOLGA8F_ENST00000337838.7_Intron			Q08AF8	GOG8F_HUMAN	golgin A8 family, member F	245						Golgi apparatus (GO:0005794)				lung(4)	4						CCACAGGACCTGGAGAGCAGG	0.617																																						ENST00000526619.2																			0				lung(4)	4						c.(745-747)cTg>cCg									58.0	120.0	103.0					15																	28632820		632	1588	2220	SO:0001583	missense	100132565							g.chr15:28632820T>C			15q13.1	2013-01-17	2010-02-12		ENSG00000153684	ENSG00000153684			32378	other	unknown			"""golgi autoantigen, golgin subfamily a, 8F"""			12477932	Standard	NR_033351		Approved	DKFZp434P162	uc010uag.1	Q08AF8	OTTHUMG00000167129	ENST00000450328.2:c.734T>C	15.37:g.28632820T>C	ENSP00000455253:p.Leu245Pro					GOLGA8F_ENST00000337838.7_Intron|GOLGA8F_ENST00000450328.2_Missense_Mutation_p.L245P|GOLGA8F_ENST00000532622.2_Missense_Mutation_p.L463P	p.L249P							14	1761	+								A4FTY1|Q1A5X9|Q8NDK0	Missense_Mutation	SNP	ENST00000450328.2	37	c.746T>C																																																																																					0.617	GOLGA8F-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NR_033351.1		4	52	0	0	0	1	0	4	52				
C1orf56	54964	broad.mit.edu	37	1	151020749	151020749	+	Silent	SNP	T	T	C	rs587603472	byFrequency	TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr1:151020749T>C	ENST00000368926.5	+	1	534	c.426T>C	c.(424-426)aaT>aaC	p.N142N		NM_017860.3	NP_060330.2	Q9BUN1	MENT_HUMAN	chromosome 1 open reading frame 56	142						cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TTATAGCCAATAGTCAGGAGC	0.592											OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(146;891 3320 6873)	ENST00000368926.5																			0				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						c.(424-426)aaT>aaC		chromosome 1 open reading frame 56							42.0	43.0	42.0					1																	151020749		2203	4300	6503	SO:0001819	synonymous_variant	54964					extracellular region		g.chr1:151020749T>C	BC002469	CCDS980.1	1q21.2	2013-09-20			ENSG00000143443	ENSG00000143443			26045	protein-coding gene	gene with protein product	"""methylated in normal thymocytes"""					12975309, 22133874	Standard	NM_017860		Approved	FLJ20519, MENT	uc001ewn.3	Q9BUN1	OTTHUMG00000035159	ENST00000368926.5:c.426T>C	1.37:g.151020749T>C			OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1737		p.N142N	NM_017860.3	NP_060330.2	Q9BUN1	CA056_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		1	534	+	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		142					B2RDU8|Q9NWZ4	Silent	SNP	ENST00000368926.5	37	c.426T>C	CCDS980.1																																																																																				0.592	C1orf56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085101.1	NM_017860		19	47	0	0	0	1	0	19	47				
OGDHL	55753	broad.mit.edu	37	10	50948877	50948877	+	Silent	SNP	C	C	G			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr10:50948877C>G	ENST00000374103.4	-	16	2104	c.2019G>C	c.(2017-2019)cgG>cgC	p.R673R	OGDHL_ENST00000432695.1_Silent_p.R464R|OGDHL_ENST00000419399.1_Silent_p.R616R|OGDHL_ENST00000490844.1_5'Flank	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	673					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GAACATGGTGCCGGTGACTGC	0.637																																						ENST00000374103.4																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						c.(2017-2019)cgG>cgC		oxoglutarate dehydrogenase-like							114.0	87.0	96.0					10																	50948877		2203	4300	6503	SO:0001819	synonymous_variant	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50948877C>G	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.2019G>C	10.37:g.50948877C>G						OGDHL_ENST00000432695.1_Silent_p.R464R|OGDHL_ENST00000419399.1_Silent_p.R616R	p.R673R	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN			16	2104	-			673					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Silent	SNP	ENST00000374103.4	37	c.2019G>C	CCDS7234.1																																																																																				0.637	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		4	46	0	0	0	1	0	4	46				
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A	rs201351032	byFrequency	TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr19:53856730G>A	ENST00000595091.1	+	5	3021	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000458035.1_Silent_p.K934K			Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368													.|||	271	0.0541134	0.0507	0.0576	5008	,	,		22260	0.0456		0.0924	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - coding silent(3)	p.K934K(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2800-2802)aaG>aaA		zinc finger protein 845																																				SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856730G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2802G>A	19.37:g.53856730G>A						ZNF845_ENST00000595091.1_Silent_p.K934K	p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2919	+			934						Silent	SNP	ENST00000595091.1	37	c.2802G>A	CCDS46170.1																																																																																				0.368	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		3	30	0	0	0	1	0	3	30				
PIK3R5	23533	broad.mit.edu	37	17	8789897	8789897	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr17:8789897G>A	ENST00000447110.1	-	13	2055	c.1931C>T	c.(1930-1932)gCc>gTc	p.A644V	PIK3R5_ENST00000581552.1_Missense_Mutation_p.A644V|PIK3R5_ENST00000584803.1_Missense_Mutation_p.A643V	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	644					blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GCCCTCCAGGGCCTGGGCTTC	0.602																																					NSCLC(18;589 615 7696 20311 50332)	ENST00000447110.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						c.(1930-1932)gCc>gTc		phosphoinositide-3-kinase, regulatory subunit 5							54.0	62.0	59.0					17																	8789897		2202	4300	6502	SO:0001583	missense	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8789897G>A	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.1931C>T	17.37:g.8789897G>A	ENSP00000392812:p.Ala644Val					PIK3R5_ENST00000581552.1_Missense_Mutation_p.A644V|PIK3R5_ENST00000584803.1_Missense_Mutation_p.A643V	p.A644V	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN			13	2055	-			644					B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	ENST00000447110.1	37	c.1931C>T	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.512809	0.27123	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	T	0.78364	-1.17	4.25	3.26	0.37387	.	0.476905	0.23985	N	0.042633	T	0.57666	0.2069	N	0.08118	0	0.25002	N	0.991463	B	0.24317	0.101	B	0.20955	0.032	T	0.45920	-0.9228	10	0.27082	T	0.32	-15.092	12.9449	0.58367	0.0:0.0:0.8362:0.1638	.	644	Q8WYR1	PI3R5_HUMAN	V	644	ENSP00000392812:A644V	ENSP00000269300:A644V	A	-	2	0	PIK3R5	8730622	0.762000	0.28451	0.815000	0.32552	0.411000	0.31082	1.684000	0.37649	0.974000	0.38366	0.313000	0.20887	GCC		0.602	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		19	23	0	0	0	1	0	19	23				
BUB1	699	broad.mit.edu	37	2	111413372	111413372	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr2:111413372G>A	ENST00000302759.6	-	16	1938	c.1820C>T	c.(1819-1821)gCg>gTg	p.A607V	BUB1_ENST00000535254.1_Missense_Mutation_p.A587V|BUB1_ENST00000409311.1_Missense_Mutation_p.A607V	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	607					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TGGTGTAGACGCAAGTTGTGC	0.463																																						ENST00000535254.1																			0				breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45						c.(1759-1761)gCg>gTg		BUB1 mitotic checkpoint serine/threonine kinase							238.0	217.0	224.0					2																	111413372		2203	4300	6503	SO:0001583	missense	699				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:111413372G>A	AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.1820C>T	2.37:g.111413372G>A	ENSP00000302530:p.Ala607Val					BUB1_ENST00000409311.1_Missense_Mutation_p.A607V|BUB1_ENST00000302759.6_Missense_Mutation_p.A607V	p.A587V	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0556)	15	1827	-		Ovarian(717;0.0822)	607					E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Missense_Mutation	SNP	ENST00000302759.6	37	c.1760C>T	CCDS33273.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.855712	0.32791	.	.	ENSG00000169679	ENST00000535254;ENST00000409311;ENST00000302759;ENST00000541432	T;T;T	0.32023	2.24;1.47;2.5	5.73	4.86	0.63082	.	0.284569	0.38663	N	0.001614	T	0.19366	0.0465	L	0.41573	1.285	0.22745	N	0.998784	P;P;P	0.39250	0.601;0.505;0.665	B;B;B	0.24006	0.043;0.05;0.036	T	0.12785	-1.0534	10	0.20046	T	0.44	-9.9651	12.3922	0.55364	0.0813:0.0:0.9187:0.0	.	587;607;607	F5GXI5;E9PC26;O43683	.;.;BUB1_HUMAN	V	587;607;607;607	ENSP00000441013:A587V;ENSP00000386701:A607V;ENSP00000302530:A607V	ENSP00000302530:A607V	A	-	2	0	BUB1	111129845	0.992000	0.36948	0.015000	0.15790	0.930000	0.56654	4.198000	0.58419	1.410000	0.46936	0.655000	0.94253	GCG		0.463	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	NM_004336		4	136	0	0	0	1	0	4	136				
P2RY1	5028	broad.mit.edu	37	3	152554482	152554482	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr3:152554482C>T	ENST00000305097.3	+	1	1747	c.911C>T	c.(910-912)gCc>gTc	p.A304V	RP11-38P22.2_ENST00000460407.1_lincRNA	NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	304					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			AGGGTTTATGCCACGTATCAG	0.478																																						ENST00000305097.3																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23						c.(910-912)gCc>gTc		purinergic receptor P2Y, G-protein coupled, 1							108.0	110.0	110.0					3																	152554482		2203	4300	6503	SO:0001583	missense	5028				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:152554482C>T	U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.911C>T	3.37:g.152554482C>T	ENSP00000304767:p.Ala304Val						p.A304V	NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)		1	1747	+			304						Missense_Mutation	SNP	ENST00000305097.3	37	c.911C>T	CCDS3169.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058394	0.36277	.	.	ENSG00000169860	ENST00000305097	T	0.12984	2.63	5.58	5.58	0.84498	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.23492	0.0568	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.05937	-1.0855	10	0.11794	T	0.64	.	18.5615	0.91101	0.0:1.0:0.0:0.0	.	304	P47900	P2RY1_HUMAN	V	304	ENSP00000304767:A304V	ENSP00000304767:A304V	A	+	2	0	P2RY1	154037172	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.711000	0.84669	2.618000	0.88619	0.563000	0.77884	GCC		0.478	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356943.1	NM_002563		4	97	0	0	0	1	0	4	97				
CEP192	55125	broad.mit.edu	37	18	13049394	13049394	+	Silent	SNP	A	A	G			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr18:13049394A>G	ENST00000325971.8	+	14	2409	c.816A>G	c.(814-816)acA>acG	p.T272T	CEP192_ENST00000430049.2_Silent_p.T393T|CEP192_ENST00000506447.1_Silent_p.T868T			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	272					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ATTCAGTTACAAATAGAGAGA	0.363																																						ENST00000506447.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2602-2604)acA>acG		centrosomal protein 192kDa							86.0	80.0	82.0					18																	13049394		2203	4300	6503	SO:0001819	synonymous_variant	55125							g.chr18:13049394A>G	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.816A>G	18.37:g.13049394A>G						CEP192_ENST00000325971.8_Silent_p.T272T|CEP192_ENST00000430049.2_Silent_p.T393T	p.T868T	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			16	2684	+			463					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Silent	SNP	ENST00000325971.8	37	c.2604A>G																																																																																					0.363	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		14	45	0	0	0	1	0	14	45				
PMS2P3	5387	broad.mit.edu	37	7	75145720	75145721	+	RNA	DEL	AT	AT	-			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr7:75145720_75145721delAT	ENST00000418756.1	-	0	618					NR_028059.1		Q13401	PM2P3_HUMAN	postmeiotic segregation increased 2 pseudogene 3						mismatch repair (GO:0006298)|regulation of transcription, DNA-templated (GO:0006355)	mismatch repair complex (GO:0032300)	nucleic acid binding (GO:0003676)			lung(1)	1						TCCTTTGGGGatatatatatat	0.302																																					NSCLC(70;602 1339 5301 18528 38453)	ENST00000418756.1																			0				lung(1)	1																																														5387							g.chr7:75145720_75145721delAT	D38437		7q11.23	2010-10-26	2010-10-26	2010-10-26	ENSG00000127957	ENSG00000127957			9128	pseudogene	pseudogene			"""postmeiotic segregation increased 2-like 3"", ""postmeiotic segregation increased 2-like 3, pseudogene"""	PMS2L9, PMS2L3		8586419	Standard	NR_028059		Approved	PMS5, PMSR3	uc022agi.1	Q13401	OTTHUMG00000156049		7.37:g.75145730_75145731delAT								NR_028059.1						0	618	-								A6NG70|Q3MJ29	RNA	DEL	ENST00000418756.1	37																																																																																						0.302	PMS2P3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000342862.2	NR_028059		2	4						2	4	---	---	---	---
LOXL4	84171	broad.mit.edu	37	10	100015403	100015403	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr10:100015403delG	ENST00000260702.3	-	10	1672	c.1522delC	c.(1522-1524)cagfs	p.Q508fs	RP11-34A14.3_ENST00000433374.1_RNA	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	508	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|receptor complex (GO:0043235)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		CCGTGCCTCTGGCACTGCTGC	0.667																																						ENST00000260702.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26						c.(1522-1524)agfs		lysyl oxidase-like 4							56.0	56.0	56.0					10																	100015403		2203	4300	6503	SO:0001589	frameshift_variant	84171					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity	g.chr10:100015403delG	AF338441	CCDS7473.1	10q24	2008-08-01			ENSG00000138131	ENSG00000138131			17171	protein-coding gene	gene with protein product		607318				11292829	Standard	XM_005270216		Approved	FLJ21889, LOXC	uc001kpa.1	Q96JB6	OTTHUMG00000018874	ENST00000260702.3:c.1522delC	10.37:g.100015403delG	ENSP00000260702:p.Gln508fs					RP11-34A14.3_ENST00000433374.1_RNA	p.Q508fs	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)	10	1672	-		Colorectal(252;0.234)	508			SRCR 4.		Q5W0B3|Q96DY1|Q96PC0|Q9H6T5	Frame_Shift_Del	DEL	ENST00000260702.3	37	c.1522delC	CCDS7473.1																																																																																				0.667	LOXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049766.1	NM_032211		15	48						15	48	---	---	---	---
