#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
KIF18A	81930	broad.mit.edu	37	11	28098686	28098686	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr11:28098686C>G	ENST00000263181.6	-	10	1583	c.1293G>C	c.(1291-1293)caG>caC	p.Q431H		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	431					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						CTTCTCGATTCTGGAACAAGC	0.303																																						ENST00000263181.6																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						c.(1291-1293)caG>caC		kinesin family member 18A							117.0	117.0	117.0					11																	28098686		2202	4293	6495	SO:0001583	missense	81930				blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding	g.chr11:28098686C>G	AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"""Kinesins"""	29441	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 99"""	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.1293G>C	11.37:g.28098686C>G	ENSP00000263181:p.Gln431His						p.Q431H	NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN			10	1583	-			431					Q4VPE3|Q86VS5|Q9H0F3	Missense_Mutation	SNP	ENST00000263181.6	37	c.1293G>C	CCDS7867.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.896698	0.52121	.	.	ENSG00000121621	ENST00000263181	T	0.73897	-0.79	5.91	3.99	0.46301	.	0.225560	0.47093	D	0.000257	T	0.68366	0.2993	L	0.57536	1.79	0.27933	N	0.937795	P	0.46706	0.883	P	0.44811	0.461	T	0.63079	-0.6717	10	0.40728	T	0.16	.	4.3658	0.11223	0.0:0.5189:0.1635:0.3176	.	431	Q8NI77	KI18A_HUMAN	H	431	ENSP00000263181:Q431H	ENSP00000263181:Q431H	Q	-	3	2	KIF18A	28055262	0.997000	0.39634	1.000000	0.80357	0.966000	0.64601	0.290000	0.18975	0.779000	0.33543	0.650000	0.86243	CAG		0.303	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388328.3	NM_031217		5	79	0	0	0	1	0	5	79				
NPIPA5	100288332	broad.mit.edu	37	16	15457701	15457701	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr16:15457701G>A	ENST00000360151.4	-	8	867	c.868C>T	c.(868-870)Ctc>Ttc	p.L290F		NM_001277325.1	NP_001264254.1	E9PKD4	NPIA5_HUMAN	nuclear pore complex interacting protein family, member A5	290	Pro-rich.							p.L290F(2)									AGGGGAGTGAGCAGACACTCG	0.562																																						ENST00000360151.4																			2	Substitution - Missense(2)	p.L290F(2)	kidney(2)								c.(868-870)Ctc>Ttc		nuclear pore complex interacting protein family, member A5																																				SO:0001583	missense	100288332							g.chr16:15457701G>A		CCDS59264.1	16p13.11	2013-06-11			ENSG00000183793	ENSG00000183793			41980	protein-coding gene	gene with protein product							Standard	NM_001277325		Approved			E9PKD4	OTTHUMG00000166305	ENST00000360151.4:c.868C>T	16.37:g.15457701G>A	ENSP00000433597:p.Leu290Phe						p.L290F	NM_001277325.1	NP_001264254.1					8	867	-								Q0P618	Missense_Mutation	SNP	ENST00000360151.4	37	c.868C>T	CCDS59264.1	.	.	.	.	.	.	.	.	.	.	.	4.044	0.005714	0.07866	.	.	ENSG00000183793	ENST00000360151	T	0.56275	0.47	.	.	.	.	.	.	.	.	T	0.52338	0.1728	M	0.62723	1.935	0.09310	N	1	.	.	.	.	.	.	T	0.44742	-0.9308	4	0.36615	T	0.2	.	.	.	.	.	.	.	.	F	290	ENSP00000433597:L290F	ENSP00000433597:L290F	L	-	1	0	RP11-82O18.1	15365202	.	.	.	.	.	.	.	.	.	.	.	.	CTC		0.562	NPIPA5-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389069.1			6	111	0	0	0	1	0	6	111				
NDST3	9348	broad.mit.edu	37	4	118975673	118975673	+	Missense_Mutation	SNP	G	G	A	rs377531754		TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr4:118975673G>A	ENST00000296499.5	+	2	1011	c.608G>A	c.(607-609)cGt>cAt	p.R203H	NDST3_ENST00000433996.2_Missense_Mutation_p.R203H	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	203	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CCATTGATTCGTGTGACCAAA	0.358																																						ENST00000296499.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						c.(607-609)cGt>cAt		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	121.0	124.0	123.0		608	-2.3	0.9	4		123	1,8597	1.2+/-3.3	0,1,4298	no	missense	NDST3	NM_004784.2	29	0,2,6500	AA,AG,GG		0.0116,0.0227,0.0154	benign	203/874	118975673	2,13002	2203	4299	6502	SO:0001583	missense	9348					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:118975673G>A	AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.608G>A	4.37:g.118975673G>A	ENSP00000296499:p.Arg203His					NDST3_ENST00000433996.2_Missense_Mutation_p.R203H	p.R203H	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN			2	1011	+			203			Heparan sulfate N-deacetylase 3.		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	ENST00000296499.5	37	c.608G>A	CCDS3708.1	.	.	.	.	.	.	.	.	.	.	G	6.135	0.393219	0.11638	2.27E-4	1.16E-4	ENSG00000164100	ENST00000296499;ENST00000433996	T;T	0.46063	1.22;0.88	5.07	-2.27	0.06846	.	0.268407	0.41712	N	0.000822	T	0.16854	0.0405	N	0.03983	-0.305	0.31168	N	0.703555	B;B;B	0.09022	0.001;0.0;0.002	B;B;B	0.06405	0.001;0.0;0.002	T	0.14924	-1.0455	10	0.23891	T	0.37	.	12.0683	0.53601	0.6079:0.0:0.3921:0.0	.	203;203;203	B4DI67;O95803;O95803-2	.;NDST3_HUMAN;.	H	203	ENSP00000296499:R203H;ENSP00000396625:R203H	ENSP00000296499:R203H	R	+	2	0	NDST3	119195121	0.000000	0.05858	0.900000	0.35374	0.916000	0.54674	-0.173000	0.09854	-0.434000	0.07275	-0.794000	0.03295	CGT		0.358	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784		56	79	0	0	0	1	0	56	79				
MARCH8	220972	broad.mit.edu	37	10	45953818	45953818	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr10:45953818T>C	ENST00000319836.3	-	7	1494	c.745A>G	c.(745-747)Att>Gtt	p.I249V	MARCH8_ENST00000395769.2_Missense_Mutation_p.I249V|MARCH8_ENST00000453424.2_Missense_Mutation_p.I531V|MARCH8_ENST00000476962.1_5'UTR|MARCH8_ENST00000395771.3_Missense_Mutation_p.I249V	NM_145021.4	NP_659458.2	Q5T0T0	MARH8_HUMAN	membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase	249					immune system process (GO:0002376)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						TTTTCAAAAATATTCTTTTTG	0.368																																					NSCLC(102;658 1594 2173 16344 34808)	ENST00000453424.2																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						c.(1591-1593)Att>Gtt		membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase							131.0	138.0	136.0					10																	45953818		2203	4300	6503	SO:0001583	missense	220972					cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr10:45953818T>C	AL833316	CCDS7213.1, CCDS60519.1	10q11.22	2013-01-09	2012-02-23	2005-01-27	ENSG00000165406	ENSG00000165406		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	23356	protein-coding gene	gene with protein product		613335	"""c-mir, cellular modulator of immune recognition"", ""membrane-associated ring finger (C3HC4) 8"""	MIR		12582153, 14722266	Standard	XM_005271804		Approved	c-MIR, MARCH-VIII, RNF178	uc001jch.2	Q5T0T0	OTTHUMG00000019345	ENST00000319836.3:c.745A>G	10.37:g.45953818T>C	ENSP00000317087:p.Ile249Val					MARCH8_ENST00000319836.3_Missense_Mutation_p.I249V|MARCH8_ENST00000395771.3_Missense_Mutation_p.I249V|MARCH8_ENST00000476962.1_5'UTR|MARCH8_ENST00000395769.2_Missense_Mutation_p.I249V	p.I531V			Q5T0T0	MARH8_HUMAN			8	1852	-			249					B2R8E7|H0Y7C6|Q5T0S8|Q8TC72	Missense_Mutation	SNP	ENST00000319836.3	37	c.1591A>G	CCDS7213.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.73|10.73	1.433294|1.433294	0.25813|0.25813	.|.	.|.	ENSG00000165406|ENSG00000165406	ENST00000395771;ENST00000319836;ENST00000395769|ENST00000453424	T;T;T|.	0.11604|.	2.76;2.76;2.76|.	5.67|5.67	4.53|4.53	0.55603|0.55603	.|.	0.314376|.	0.30528|.	N|.	0.009424|.	T|T	0.50377|0.50377	0.1612|0.1612	L|L	0.44542|0.44542	1.39|1.39	0.33972|0.33972	D|D	0.646948|0.646948	B;B|.	0.25563|.	0.0;0.129|.	B;B|.	0.17098|.	0.001;0.017|.	T|T	0.59778|0.59778	-0.7390|-0.7390	10|5	0.14656|.	T|.	0.56|.	-11.9727|-11.9727	9.6829|9.6829	0.40080|0.40080	0.0:0.0822:0.0:0.9178|0.0:0.0822:0.0:0.9178	.|.	249;413|.	Q5T0T0;Q5JQ16|.	MARH8_HUMAN;.|.	V|C	249|413	ENSP00000379118:I249V;ENSP00000317087:I249V;ENSP00000379116:I249V|.	ENSP00000317087:I249V|.	I|Y	-|-	1|2	0|0	MARCH8|MARCH8	45273824|45273824	0.997000|0.997000	0.39634|0.39634	0.999000|0.999000	0.59377|0.59377	0.997000|0.997000	0.91878|0.91878	1.630000|1.630000	0.37081|0.37081	0.978000|0.978000	0.38470|0.38470	0.533000|0.533000	0.62120|0.62120	ATT|TAT		0.368	MARCH8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051217.1	NM_145021		16	137	0	0	0	1	0	16	137				
PAX4	5078	broad.mit.edu	37	7	127255074	127255074	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr7:127255074C>T	ENST00000341640.2	-	2	401	c.196G>A	c.(196-198)Gga>Aga	p.G66R	PAX4_ENST00000463946.1_Missense_Mutation_p.G64R|PAX4_ENST00000338516.3_Missense_Mutation_p.G74R|PAX4_ENST00000378740.2_Missense_Mutation_p.G66R	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	74	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGCTTGCTTCCCCCAATGCCC	0.577																																					Ovarian(113;737 1605 7858 27720 34092)	ENST00000341640.2																			0				cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(196-198)Gga>Aga		paired box 4							98.0	92.0	94.0					7																	127255074		2203	4300	6503	SO:0001583	missense	5078				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:127255074C>T		CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"""Paired boxes"", ""Homeoboxes / PRD class"""	8618	protein-coding gene	gene with protein product		167413	"""paired box gene 4"""				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.196G>A	7.37:g.127255074C>T	ENSP00000339906:p.Gly66Arg					PAX4_ENST00000338516.3_Missense_Mutation_p.G74R|PAX4_ENST00000378740.2_Missense_Mutation_p.G66R|PAX4_ENST00000463946.1_Missense_Mutation_p.G64R	p.G66R	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN			2	401	-			74			Paired.		O95161|Q6B0H0	Missense_Mutation	SNP	ENST00000341640.2	37	c.196G>A	CCDS5797.1	.	.	.	.	.	.	.	.	.	.	C	33	5.234271	0.95207	.	.	ENSG00000106331	ENST00000341640;ENST00000338516;ENST00000378740;ENST00000463946	D;D;D	0.99745	-6.61;-6.61;-6.61	5.63	5.63	0.86233	Paired box protein, N-terminal (4);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99768	0.9905	M	0.91920	3.255	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.97352	0.9964	10	0.87932	D	0	.	17.1647	0.86812	0.0:1.0:0.0:0.0	.	66;64;74;64	O43316-4;Q1W386;O43316;G3V4Q1	.;.;PAX4_HUMAN;.	R	66;74;74;64	ENSP00000339906:G66R;ENSP00000344297:G74R;ENSP00000451923:G64R	ENSP00000344297:G74R	G	-	1	0	PAX4	127042310	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.684000	0.84104	2.636000	0.89361	0.655000	0.94253	GGA		0.577	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349165.1			7	70	0	0	0	1	0	7	70				
ARHGEF12	23365	broad.mit.edu	37	11	120350735	120350735	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr11:120350735G>A	ENST00000397843.2	+	38	3999	c.3833G>A	c.(3832-3834)tGg>tAg	p.W1278*	ARHGEF12_ENST00000356641.3_Nonsense_Mutation_p.W1259*|ARHGEF12_ENST00000532993.1_Nonsense_Mutation_p.W1175*	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1278					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CAGGAAGACTGGCAACATTTC	0.463			T	MLL	AML																																	ENST00000397843.2				Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		0				NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61						c.(3832-3834)tGg>tAg		Rho guanine nucleotide exchange factor (GEF) 12							133.0	123.0	126.0					11																	120350735		1885	4113	5998	SO:0001587	stop_gained	23365				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr11:120350735G>A	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.3833G>A	11.37:g.120350735G>A	ENSP00000380942:p.Trp1278*					ARHGEF12_ENST00000356641.3_Nonsense_Mutation_p.W1259*|ARHGEF12_ENST00000532993.1_Nonsense_Mutation_p.W1175*	p.W1278*	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	38	3999	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	1278					O15086|Q6P526	Nonsense_Mutation	SNP	ENST00000397843.2	37	c.3833G>A	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	G	45	11.333689	0.99547	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	.	.	.	5.74	5.74	0.90152	.	0.000000	0.46442	D	0.000287	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.4798	14.743	0.69469	0.0:0.0:0.8555:0.1445	.	.	.	.	X	1278;1259;1175	.	ENSP00000349056:W1259X	W	+	2	0	ARHGEF12	119855945	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.408000	0.59761	2.712000	0.92718	0.650000	0.86243	TGG		0.463	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		30	100	0	0	0	1	0	30	100				
MDFIC	29969	broad.mit.edu	37	7	114655883	114655883	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr7:114655883G>T	ENST00000393486.1	+	5	1225	c.635G>T	c.(634-636)tGt>tTt	p.C212F	MDFIC_ENST00000257724.3_Missense_Mutation_p.C321F	NM_001166345.1|NM_199072.4	NP_001159817.1|NP_951038.1			MyoD family inhibitor domain containing											breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						GGGGATGATTGTAACTGCCCT	0.488																																						ENST00000393486.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						c.(634-636)tGt>tTt		MyoD family inhibitor domain containing							323.0	288.0	299.0					7																	114655883		2203	4300	6503	SO:0001583	missense	29969				activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	cyclin binding|Tat protein binding	g.chr7:114655883G>T	AF054589	CCDS34737.1, CCDS55155.1	7q31.1-q31.2	2006-01-11			ENSG00000135272	ENSG00000135272			28870	protein-coding gene	gene with protein product		614511				10671520	Standard	NM_199072		Approved	HIC	uc003vhf.3	Q9P1T7	OTTHUMG00000023647	ENST00000393486.1:c.635G>T	7.37:g.114655883G>T	ENSP00000377126:p.Cys212Phe					MDFIC_ENST00000257724.3_Missense_Mutation_p.C321F	p.C212F	NM_001166345.1|NM_199072.4	NP_001159817.1|NP_951038.1	Q9P1T7	MDFIC_HUMAN			5	1225	+			212			Cys-rich.			Missense_Mutation	SNP	ENST00000393486.1	37	c.635G>T	CCDS55155.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.763626	0.89932	.	.	ENSG00000135272	ENST00000257724;ENST00000393486	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.84343	0.5451	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85711	0.1319	9	0.87932	D	0	-14.8733	19.9915	0.97366	0.0:0.0:1.0:0.0	.	212	Q9P1T7	MDFIC_HUMAN	F	321;212	.	ENSP00000257724:C321F	C	+	2	0	MDFIC	114443119	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.476000	0.97823	2.723000	0.93209	0.655000	0.94253	TGT		0.488	MDFIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059968.4	NM_199072		26	199	1	0	3.6726e-16	1	4.02802e-16	26	199				
NLRP10	338322	broad.mit.edu	37	11	7981342	7981342	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr11:7981342C>T	ENST00000328600.2	-	2	1978	c.1817G>A	c.(1816-1818)aGc>aAc	p.S606N		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	606					defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACTCAAGCTGCTTTTGACAGA	0.368																																						ENST00000328600.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1816-1818)aGc>aAc		NLR family, pyrin domain containing 10							84.0	79.0	81.0					11																	7981342		2200	4295	6495	SO:0001583	missense	338322						ATP binding	g.chr11:7981342C>T	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.1817G>A	11.37:g.7981342C>T	ENSP00000327763:p.Ser606Asn						p.S606N	NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	1978	-			606					Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	c.1817G>A	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.619805	0.28801	.	.	ENSG00000182261	ENST00000328600	D	0.87966	-2.32	3.25	-1.02	0.10135	.	0.670921	0.12387	N	0.473396	T	0.71350	0.3329	N	0.19112	0.55	0.18873	N	0.999986	B	0.06786	0.001	B	0.04013	0.001	T	0.54682	-0.8257	10	0.27785	T	0.31	.	2.3448	0.04269	0.1191:0.3832:0.3246:0.1731	.	606	Q86W26	NAL10_HUMAN	N	606	ENSP00000327763:S606N	ENSP00000327763:S606N	S	-	2	0	NLRP10	7937918	0.009000	0.17119	0.708000	0.30435	0.491000	0.33493	-0.393000	0.07305	-0.178000	0.10672	-0.256000	0.11100	AGC		0.368	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		23	40	0	0	0	1	0	23	40				
LRRC16A	55604	broad.mit.edu	37	6	25450191	25450191	+	Missense_Mutation	SNP	A	A	G	rs565861368		TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr6:25450191A>G	ENST00000329474.6	+	6	805	c.437A>G	c.(436-438)gAc>gGc	p.D146G	LRRC16A_ENST00000377969.3_5'UTR	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	146					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GCGCTGTGGGACAGCCAGACC	0.498													A|||	1	0.000199681	0.0	0.0	5008	,	,		16599	0.0		0.0	False		,,,				2504	0.001					ENST00000329474.6																			0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(436-438)gAc>gGc		leucine rich repeat containing 16A							41.0	42.0	42.0					6																	25450191		1861	4096	5957	SO:0001583	missense	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25450191A>G	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.437A>G	6.37:g.25450191A>G	ENSP00000331983:p.Asp146Gly					LRRC16A_ENST00000377969.3_5'UTR	p.D146G	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN			6	805	+			146					B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	c.437A>G	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.650557	0.87958	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.15487	2.42	5.55	5.55	0.83447	.	0.125321	0.53938	D	0.000042	T	0.24624	0.0597	L	0.59436	1.845	0.80722	D	1	D;D;D	0.59357	0.985;0.968;0.981	P;P;P	0.58266	0.836;0.585;0.76	T	0.00790	-1.1565	10	0.51188	T	0.08	.	15.9844	0.80138	1.0:0.0:0.0:0.0	.	146;146;146	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	G	146	ENSP00000331983:D146G	ENSP00000331983:D146G	D	+	2	0	LRRC16A	25558170	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.278000	0.89899	2.233000	0.73108	0.533000	0.62120	GAC		0.498	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		14	16	0	0	0	1	0	14	16				
MCM7	4176	broad.mit.edu	37	7	99697010	99697010	+	Missense_Mutation	SNP	A	A	C			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr7:99697010A>C	ENST00000303887.5	-	4	938	c.293T>G	c.(292-294)gTc>gGc	p.V98G	AP4M1_ENST00000429084.1_5'Flank|MCM7_ENST00000343023.6_Missense_Mutation_p.V98G|MCM7_ENST00000354230.3_5'UTR|AP4M1_ENST00000422582.1_5'Flank|AP4M1_ENST00000359593.4_5'Flank|AP4M1_ENST00000421755.1_5'Flank	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	98					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AACGTCCAGGACATCTTTATT	0.488																																						ENST00000303887.5																			0				endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17						c.(292-294)gTc>gGc		minichromosome maintenance complex component 7	Atorvastatin(DB01076)						53.0	58.0	56.0					7																	99697010		2203	4300	6503	SO:0001583	missense	4176				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding	g.chr7:99697010A>C		CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 104"""	600592	"""minichromosome maintenance deficient (S. cerevisiae) 7"", ""MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"""	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.293T>G	7.37:g.99697010A>C	ENSP00000307288:p.Val98Gly					MCM7_ENST00000354230.3_5'UTR|MCM7_ENST00000343023.6_Missense_Mutation_p.V98G	p.V98G	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN			4	938	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		98					A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Missense_Mutation	SNP	ENST00000303887.5	37	c.293T>G	CCDS5683.1	.	.	.	.	.	.	.	.	.	.	A	10.81	1.454784	0.26161	.	.	ENSG00000166508	ENST00000343023;ENST00000303887;ENST00000542483	T;T	0.13778	2.56;3.93	4.57	4.57	0.56435	Nucleic acid-binding, OB-fold-like (1);	0.129757	0.50627	D	0.000106	T	0.16854	0.0405	M	0.78801	2.425	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.05869	-1.0859	10	0.48119	T	0.1	-0.587	6.7203	0.23327	0.8967:0.0:0.1033:0.0	.	98	P33993	MCM7_HUMAN	G	98;98;35	ENSP00000344006:V98G;ENSP00000307288:V98G	ENSP00000307288:V98G	V	-	2	0	MCM7	99534946	1.000000	0.71417	0.796000	0.32109	0.209000	0.24338	4.351000	0.59398	1.906000	0.55180	0.460000	0.39030	GTC		0.488	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336534.3			26	36	0	0	0	1	0	26	36				
NIPBL	25836	broad.mit.edu	37	5	36961653	36961653	+	Nonsense_Mutation	SNP	T	T	A			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr5:36961653T>A	ENST00000282516.8	+	5	925	c.426T>A	c.(424-426)taT>taA	p.Y142*	NIPBL_ENST00000448238.2_Nonsense_Mutation_p.Y142*|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	142					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CTTCCAATTATCAACAAACCA	0.333																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(424-426)taT>taA		Nipped-B homolog (Drosophila)							141.0	138.0	139.0					5																	36961653		2203	4300	6503	SO:0001587	stop_gained	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:36961653T>A	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.426T>A	5.37:g.36961653T>A	ENSP00000282516:p.Tyr142*					NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Nonsense_Mutation_p.Y142*	p.Y142*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		5	925	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		142					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Nonsense_Mutation	SNP	ENST00000282516.8	37	c.426T>A	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	T	41	8.894576	0.98994	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	.	.	.	5.01	2.6	0.31112	.	0.086112	0.52532	D	0.000065	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.0253	0.30434	0.0:0.2682:0.0:0.7318	.	.	.	.	X	142	.	ENSP00000282516:Y142X	Y	+	3	2	NIPBL	36997410	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.108000	0.31123	0.340000	0.23745	0.533000	0.62120	TAT		0.333	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		35	52	0	0	0	1	0	35	52				
OR2T11	127077	broad.mit.edu	37	1	248789593	248789593	+	Silent	SNP	C	C	T			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr1:248789593C>T	ENST00000330803.2	-	1	898	c.837G>A	c.(835-837)acG>acA	p.T279T		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	279						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TAAGCATGGGCGTGACAATGG	0.488																																						ENST00000330803.2																			0				breast(1)|large_intestine(5)|lung(20)|skin(2)	28						c.(835-837)acG>acA		olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)							100.0	97.0	98.0					1																	248789593		2054	4234	6288	SO:0001819	synonymous_variant	127077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248789593C>T	BK004476	CCDS31122.1	1q44	2013-10-10	2013-10-10		ENSG00000183130	ENSG00000183130		"""GPCR / Class A : Olfactory receptors"""	19574	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 11"""				Standard	NM_001001964		Approved	OR2T11Q	uc001ier.1	Q8NH01	OTTHUMG00000040384	ENST00000330803.2:c.837G>A	1.37:g.248789593C>T							p.T279T	NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	898	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		279					Q6IEY6	Silent	SNP	ENST00000330803.2	37	c.837G>A	CCDS31122.1																																																																																				0.488	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097134.1	NM_001001964		13	58	0	0	0	1	0	13	58				
PNMA2	10687	broad.mit.edu	37	8	26365638	26365638	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr8:26365638C>T	ENST00000522362.2	-	3	1528	c.634G>A	c.(634-636)Ggc>Agc	p.G212S	PNMA2_ENST00000522764.1_5'Flank	NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	212					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		agggcagggccccgcaggctt	0.542																																						ENST00000522362.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11						c.(634-636)Ggc>Agc		paraneoplastic Ma antigen 2							83.0	85.0	85.0					8																	26365638		2203	4300	6503	SO:0001583	missense	10687				apoptosis	nucleolus	protein binding	g.chr8:26365638C>T		CCDS34868.1	8p21.1	2012-02-09	2012-02-09		ENSG00000240694	ENSG00000240694		"""Paraneoplastic Ma antigens"""	9159	protein-coding gene	gene with protein product		603970	"""paraneoplastic antigen MA2"""			10362822	Standard	NM_007257		Approved	MA2, RGAG2	uc003xez.2	Q9UL42	OTTHUMG00000163816	ENST00000522362.2:c.634G>A	8.37:g.26365638C>T	ENSP00000429344:p.Gly212Ser						p.G212S	NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)	3	1528	-		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)	212					B3KNY9|O94959|O95145|Q49A18|Q9UL43	Missense_Mutation	SNP	ENST00000522362.2	37	c.634G>A	CCDS34868.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.750624	0.49257	.	.	ENSG00000240694	ENST00000522362	T	0.40476	1.03	4.22	3.33	0.38152	Retrotransposon gag protein (1);	.	.	.	.	T	0.61689	0.2367	M	0.80332	2.49	0.21020	N	0.999806	D	0.69078	0.997	D	0.63488	0.915	T	0.51718	-0.8670	9	0.72032	D	0.01	-15.3465	10.163	0.42864	0.0:0.7977:0.2023:0.0	.	212	Q9UL42	PNMA2_HUMAN	S	212	ENSP00000429344:G212S	ENSP00000429344:G212S	G	-	1	0	PNMA2	26421555	0.970000	0.33590	0.375000	0.26029	0.440000	0.31957	2.922000	0.48860	1.339000	0.45563	0.655000	0.94253	GGC		0.542	PNMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375709.2	NM_007257		6	100	0	0	0	1	0	6	100				
ZADH2	284273	broad.mit.edu	37	18	72913697	72913697	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr18:72913697C>G	ENST00000322342.3	-	2	1097	c.808G>C	c.(808-810)Ggg>Cgg	p.G270R	ZADH2_ENST00000537114.2_Missense_Mutation_p.G147R	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2	270						mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		GAGATAAACCCTATTACTATC	0.512																																						ENST00000322342.3																			0				endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15						c.(808-810)Ggg>Cgg		zinc binding alcohol dehydrogenase domain containing 2							93.0	82.0	86.0					18																	72913697		2203	4300	6503	SO:0001583	missense	284273					peroxisome	oxidoreductase activity|zinc ion binding	g.chr18:72913697C>G	BC033780	CCDS12008.1	18q22.3	2008-05-29	2008-05-29		ENSG00000180011	ENSG00000180011			28697	protein-coding gene	gene with protein product						12477932	Standard	NM_175907		Approved	MGC45594	uc002llx.3	Q8N4Q0	OTTHUMG00000132858	ENST00000322342.3:c.808G>C	18.37:g.72913697C>G	ENSP00000323678:p.Gly270Arg					ZADH2_ENST00000537114.2_Missense_Mutation_p.G147R	p.G270R	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)	2	1097	-		Esophageal squamous(42;0.131)|Prostate(75;0.155)	270					A8KA15|B4DZ91	Missense_Mutation	SNP	ENST00000322342.3	37	c.808G>C	CCDS12008.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.386675	0.82902	.	.	ENSG00000180011	ENST00000322342;ENST00000537114	T;T	0.11495	2.77;2.77	5.92	5.05	0.67936	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.49966	0.1588	H	0.98238	4.18	0.42510	D	0.99296	D	0.89917	1.0	D	0.97110	1.0	T	0.59920	-0.7363	10	0.87932	D	0	-10.3923	13.5648	0.61810	0.0:0.9283:0.0:0.0717	.	270	Q8N4Q0	ZADH2_HUMAN	R	270;147	ENSP00000323678:G270R;ENSP00000440111:G147R	ENSP00000323678:G270R	G	-	1	0	ZADH2	71042685	1.000000	0.71417	0.648000	0.29521	0.970000	0.65996	5.887000	0.69751	-0.619000	0.05648	-0.347000	0.07816	GGG		0.512	ZADH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256332.1	NM_175907		23	43	0	0	0	1	0	23	43				
DDX41	51428	broad.mit.edu	37	5	176940447	176940447	+	Silent	SNP	C	C	T	rs144382614		TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr5:176940447C>T	ENST00000507955.1	-	11	1660	c.1137G>A	c.(1135-1137)ccG>ccA	p.P379P	DDX41_ENST00000506965.1_5'Flank	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	379	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			GAATCTTCTTCGGCATGGTGG	0.617																																						ENST00000507955.1																			0											c.(1135-1137)ccG>ccA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 41		C		0,4406		0,0,2203	136.0	144.0	141.0		1137	-5.7	0.8	5	dbSNP_134	141	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DDX41	NM_016222.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		379/623	176940447	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51428				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding	g.chr5:176940447C>T	AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"""DEAD-boxes"""	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.1137G>A	5.37:g.176940447C>T							p.P379P	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		11	1660	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	379			Helicase ATP-binding.		B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Silent	SNP	ENST00000507955.1	37	c.1137G>A	CCDS4427.1																																																																																				0.617	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253432.2	NM_016222		81	130	0	0	0	1	0	81	130				
IDH2	3418	broad.mit.edu	37	15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	rs121913503		TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr15:90631838C>T	ENST00000330062.3	-	4	628	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K|IDH2_ENST00000539790.1_Missense_Mutation_p.R42K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM																																	ENST00000330062.3				Dom	yes		15	15q26.1	3418	M	"""socitrate dehydrogenase 2 (NADP+), mitochondrial """			M			GBM		138	Substitution - Missense(138)	p.R172K(116)|p.R172M(21)|p.R172N(1)	haematopoietic_and_lymphoid_tissue(67)|central_nervous_system(65)|biliary_tract(6)	biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109						c.(514-516)aGg>aAg		isocitrate dehydrogenase 2 (NADP+), mitochondrial							85.0	81.0	82.0					15																	90631838		2200	4298	6498	SO:0001583	missense	3418				2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	g.chr15:90631838C>T		CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.515G>A	15.37:g.90631838C>T	ENSP00000331897:p.Arg172Lys					IDH2_ENST00000540499.2_Missense_Mutation_p.R120K|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R42K	p.R172K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)		4	628	-	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		172					B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	ENST00000330062.3	37	c.515G>A	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957149	0.53293	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	D;D;D	0.86432	-2.12;-2.12;-2.12	5.93	4.07	0.47477	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.95217	0.8449	H	0.96889	3.9	0.49687	D	0.999812	D	0.89917	1.0	D	0.91635	0.999	D	0.95096	0.8226	10	0.87932	D	0	.	10.781	0.46377	0.0:0.8464:0.0:0.1536	.	172	P48735	IDHP_HUMAN	K	172;42;120	ENSP00000331897:R172K;ENSP00000438457:R42K;ENSP00000446147:R120K	ENSP00000331897:R172K	R	-	2	0	IDH2	88432842	1.000000	0.71417	0.025000	0.17156	0.001000	0.01503	7.797000	0.85911	0.862000	0.35528	-0.258000	0.10820	AGG		0.632	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1			25	34	0	0	0	1	0	25	34				
GPR98	84059	broad.mit.edu	37	5	89924557	89924557	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr5:89924557G>A	ENST00000405460.2	+	8	1513	c.1417G>A	c.(1417-1419)Gat>Aat	p.D473N		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	473	Calx-beta 4. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TACTGTGGTTGATGATGATCT	0.478																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(1417-1419)Gat>Aat		G protein-coupled receptor 98							133.0	132.0	132.0					5																	89924557		1993	4158	6151	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89924557G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.1417G>A	5.37:g.89924557G>A	ENSP00000384582:p.Asp473Asn						p.D473N	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	8	1513	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	473			Calx-beta 4.		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.1417G>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	1.246	-0.619870	0.03636	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.34275	1.37	5.78	-6.25	0.02039	.	0.837062	0.11523	N	0.555506	T	0.15912	0.0383	N	0.08118	0	0.09310	N	0.999994	B	0.02656	0.0	B	0.01281	0.0	T	0.19289	-1.0310	10	0.32370	T	0.25	.	12.1186	0.53880	0.3491:0.0998:0.5511:0.0	.	473	Q8WXG9	GPR98_HUMAN	N	473	ENSP00000384582:D473N	ENSP00000296619:D473N	D	+	1	0	GPR98	89960313	0.000000	0.05858	0.012000	0.15200	0.092000	0.18411	0.020000	0.13466	-1.177000	0.02744	-0.355000	0.07637	GAT		0.478	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		20	55	0	0	0	1	0	20	55				
TNFAIP3	7128	broad.mit.edu	37	6	138195987	138195987	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr6:138195987G>A	ENST00000237289.4	+	3	367	c.301G>A	c.(301-303)Ggc>Agc	p.G101S		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	101	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)|p.G101fs*38(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		CTCAGGTGACGGCAATTGCCT	0.488			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""																																GBM(130;153 1739 22295 28918 47987)	ENST00000237289.4				Rec	yes		6	6q23	7128	"""D, N, F"""	"""tumor necrosis factor, alpha-induced protein 3"""			L			"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""		26	Whole gene deletion(25)|Complex - frameshift(1)	p.0?(25)|p.G101fs*38(1)	haematopoietic_and_lymphoid_tissue(26)	breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225						c.(301-303)Ggc>Agc		tumor necrosis factor, alpha-induced protein 3							87.0	68.0	75.0					6																	138195987		2203	4300	6503	SO:0001583	missense	7128				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr6:138195987G>A	M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"""OTU domain containing"""	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.301G>A	6.37:g.138195987G>A	ENSP00000237289:p.Gly101Ser						p.G101S	NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN		GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)	3	367	+	Breast(32;0.135)|Colorectal(23;0.24)		101			OTU.|TRAF-binding.		B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Missense_Mutation	SNP	ENST00000237289.4	37	c.301G>A	CCDS5187.1	.	.	.	.	.	.	.	.	.	.	G	36	5.693217	0.96793	.	.	ENSG00000118503	ENST00000420009;ENST00000237289;ENST00000535574;ENST00000535332;ENST00000539356;ENST00000544646;ENST00000536070	T;T	0.69685	-0.42;-0.42	5.97	5.97	0.96955	Ovarian tumour, otubain (2);	0.000000	0.85682	D	0.000000	D	0.83487	0.5265	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85512	0.1198	10	0.87932	D	0	-5.1562	18.5941	0.91224	0.0:0.0:1.0:0.0	.	101	P21580	TNAP3_HUMAN	S	101	ENSP00000401562:G101S;ENSP00000237289:G101S	ENSP00000237289:G101S	G	+	1	0	TNFAIP3	138237680	1.000000	0.71417	0.995000	0.50966	0.959000	0.62525	8.830000	0.92063	2.819000	0.97034	0.655000	0.94253	GGC		0.488	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042414.1			3	58	0	0	0	1	0	3	58				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		5	54	0	0	0	1	0	5	54				
ERVW-1	30816	broad.mit.edu	37	7	92098171	92098171	+	Nonsense_Mutation	SNP	G	G	A	rs151180490	byFrequency	TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr7:92098171G>A	ENST00000493463.2	-	1	2448	c.1525C>T	c.(1525-1527)Cga>Tga	p.R509*	AC007566.10_ENST00000427458.1_RNA|ERVW-1_ENST00000604270.1_5'UTR|ERVW-1_ENST00000603053.1_Nonsense_Mutation_p.R509*	NM_014590.3	NP_055405.3	Q9UQF0	SYCY1_HUMAN	endogenous retrovirus group W, member 1	509					anatomical structure morphogenesis (GO:0009653)|syncytium formation (GO:0006949)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|viral envelope (GO:0019031)				endometrium(1)|large_intestine(1)|lung(15)	17						acatcagatcgtgggctagca	0.517													G|||	21	0.00419329	0.0	0.0	5008	,	,		19778	0.0		0.001	False		,,,				2504	0.0204					ENST00000493463.2																			0				endometrium(1)|large_intestine(1)|lung(15)	17						c.(1525-1527)Cga>Tga				G	stop/ARG,stop/ARG	0,4406		0,0,2203	80.0	85.0	83.0		1525,1525	0.1	0.2	7	dbSNP_134	83	4,8596	3.7+/-12.6	0,4,4296	no	stop-gained,stop-gained	ERVW-1	NM_001130925.1,NM_014590.3	,	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	,	509/539,509/539	92098171	4,13002	2203	4300	6503	SO:0001587	stop_gained	0				syncytium formation	integral to membrane|plasma membrane|virion		g.chr7:92098171G>A	AF208161	CCDS5626.1	7q21.2	2011-06-16	2011-05-05	2011-05-05	ENSG00000242950	ENSG00000242950			13525	other	endogenous retrovirus	"""envelope protein"", ""HERV-W Env glycoprotein"", ""enverin"", ""syncytin-1"", ""HERV-tryptophan envelope protein"", ""HERV-W{7q21.1} provirus ancestral Env polyprotein"", ""HERV-7q envelope protein"", ""envelope glycoprotein"", ""syncytin"""	604659	"""endogenous retroviral family W, env(C7), member 1"""	ERVWE1		9835022, 9882319, 21542922	Standard	NM_001130925		Approved	HERV-W, HERV-W-ENV, HERVW, HERV-7q	uc022ahe.1	Q9UQF0	OTTHUMG00000131249	ENST00000493463.2:c.1525C>T	7.37:g.92098171G>A	ENSP00000419945:p.Arg509*					ERVW-1_ENST00000604270.1_5'UTR|ERVW-1_ENST00000603053.1_Nonsense_Mutation_p.R509*|AC007566.10_ENST00000427458.1_RNA	p.R509*	NM_014590.3	NP_055405.3	Q9UQF0	ENW1_HUMAN			1	2448	-			509					B2RPD4|O95244|O95245|Q8NHY7|Q9NRZ2|Q9NZG3	Nonsense_Mutation	SNP	ENST00000493463.2	37	c.1525C>T	CCDS5626.1	.	.	.	.	.	.	.	.	.	.	G	42	9.687042	0.99238	0.0	4.65E-4	ENSG00000242950	ENST00000493463	.	.	.	0.0465	0.0465	0.14256	.	0.401907	0.08080	U	1.000000	.	.	.	.	.	.	0.40705	D	0.982513	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	.	.	.	.	.	.	.	X	509	.	ENSP00000419945:R509X	R	-	1	2	ERVW-1	91936107	0.124000	0.22315	0.241000	0.24154	0.244000	0.25665	0.170000	0.16663	0.132000	0.18615	0.134000	0.15878	CGA		0.517	ERVW-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254009.2	NM_014590		6	102	0	0	0	1	0	6	102				
RAG1	5896	broad.mit.edu	37	11	36595107	36595107	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr11:36595107C>T	ENST00000299440.5	+	2	365	c.253C>T	c.(253-255)Cct>Tct	p.P85S		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	85	Interaction with importin alpha-1.				adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				AAAAGCCCACCCTAAGTTTTC	0.488									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	ENST00000299440.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65						c.(253-255)Cct>Tct		recombination activating gene 1							78.0	85.0	82.0					11																	36595107		2202	4298	6500	SO:0001583	missense	5896	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36595107C>T	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.253C>T	11.37:g.36595107C>T	ENSP00000299440:p.Pro85Ser						p.P85S	NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN			2	365	+	all_lung(20;0.226)	all_hematologic(20;0.107)	85			Interaction with importin alpha-1.		E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.253C>T	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	C	0.490	-0.875899	0.02550	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	T;T	0.37584	1.19;1.19	6.14	2.87	0.33458	.	0.352176	0.30093	N	0.010440	T	0.20618	0.0496	N	0.16708	0.43	0.09310	N	0.999997	B	0.09022	0.002	B	0.06405	0.002	T	0.14117	-1.0484	10	0.45353	T	0.12	.	8.3181	0.32113	0.1953:0.6537:0.0:0.1511	.	85	P15918	RAG1_HUMAN	S	85	ENSP00000434610:P85S;ENSP00000299440:P85S	ENSP00000299440:P85S	P	+	1	0	RAG1	36551683	0.000000	0.05858	0.821000	0.32701	0.054000	0.15201	0.483000	0.22292	1.460000	0.47911	0.650000	0.86243	CCT		0.488	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		23	56	0	0	0	1	0	23	56				
ADAM15	8751	broad.mit.edu	37	1	155034402	155034402	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr1:155034402A>G	ENST00000356955.2	+	21	2476	c.2375A>G	c.(2374-2376)aAt>aGt	p.N792S	EFNA4_ENST00000427683.2_5'Flank|ADAM15_ENST00000360674.4_Intron|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000472434.1_3'UTR|EFNA3_ENST00000505139.1_5'Flank|ADAM15_ENST00000368412.3_Intron|ADAM15_ENST00000271836.6_Intron|ADAM15_ENST00000355956.2_Intron|ADAM15_ENST00000368413.1_Intron|EFNA3_ENST00000556931.1_5'Flank|EFNA4_ENST00000368409.3_5'Flank|EFNA4_ENST00000359751.4_5'Flank|ADAM15_ENST00000359280.4_Missense_Mutation_p.N767S|ADAM15_ENST00000449910.2_Missense_Mutation_p.N791S|ADAM15_ENST00000531455.1_Intron	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	792					angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GACCGACCCAATCCCCCTACC	0.647											OREG0013848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000356955.2																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39						c.(2374-2376)aAt>aGt		ADAM metallopeptidase domain 15							101.0	104.0	103.0					1																	155034402		2203	4300	6503	SO:0001583	missense	8751				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr1:155034402A>G	U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"""ADAM metallopeptidase domain containing"""	193	protein-coding gene	gene with protein product	"""metargidin"""	605548	"""a disintegrin and metalloproteinase domain 15 (metargidin)"""			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.2375A>G	1.37:g.155034402A>G	ENSP00000349436:p.Asn792Ser		OREG0013848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1767	ADAM15_ENST00000271836.6_Intron|ADAM15_ENST00000360674.4_Intron|ADAM15_ENST00000368412.3_Intron|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000359280.4_Missense_Mutation_p.N767S|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000449910.2_Missense_Mutation_p.N791S|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000531455.1_Intron|ADAM15_ENST00000355956.2_Intron	p.N792S	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		21	2476	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		792					B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Missense_Mutation	SNP	ENST00000356955.2	37	c.2375A>G	CCDS1087.1	.	.	.	.	.	.	.	.	.	.	a	14.00	2.404881	0.42613	.	.	ENSG00000143537	ENST00000356955;ENST00000449910;ENST00000359280	T;T;T	0.00691	5.85;5.86;5.84	4.37	1.98	0.26296	.	0.000000	0.46758	D	0.000279	T	0.00356	0.0011	N	0.04705	-0.18	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.998;0.998	D;D;D;D	0.83275	0.995;0.996;0.99;0.98	T	0.64063	-0.6495	10	0.07482	T	0.82	.	4.3332	0.11073	0.6904:0.2027:0.1069:0.0	.	767;791;792;788	Q13444-5;Q13444-3;Q13444;Q59GF2	.;.;ADA15_HUMAN;.	S	792;791;767	ENSP00000349436:N792S;ENSP00000403843:N791S;ENSP00000352226:N767S	ENSP00000349436:N792S	N	+	2	0	ADAM15	153301026	0.977000	0.34250	0.999000	0.59377	0.997000	0.91878	0.433000	0.21477	0.210000	0.20664	0.446000	0.29264	AAT		0.647	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387168.1	NM_003815		63	82	0	0	0	1	0	63	82				
MAK16	84549	broad.mit.edu	37	8	33346581	33346581	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr8:33346581C>T	ENST00000360128.6	+	5	773	c.316C>T	c.(316-318)Cga>Tga	p.R106*	TTI2_ENST00000519356.1_Intron	NM_032509.3	NP_115898.2	Q9BXY0	MAK16_HUMAN	MAK16 homolog (S. cerevisiae)	106						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	8						CCGTTTCATTCGACACAAATG	0.373																																						ENST00000360128.6																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	8						c.(316-318)Cga>Tga		MAK16 homolog (S. cerevisiae)							116.0	113.0	114.0					8																	33346581		2203	4300	6503	SO:0001587	stop_gained	84549					nucleolus		g.chr8:33346581C>T	AF251062	CCDS6089.1	8p12	2011-10-13	2008-06-04	2008-06-04	ENSG00000198042	ENSG00000198042		"""RNA binding motif (RRM) containing"""	13703	protein-coding gene	gene with protein product			"""RNA binding motif protein 13"""	RBM13			Standard	NM_032509		Approved	MAK16L	uc003xjj.3	Q9BXY0	OTTHUMG00000163957	ENST00000360128.6:c.316C>T	8.37:g.33346581C>T	ENSP00000353246:p.Arg106*					TTI2_ENST00000519356.1_Intron	p.R106*	NM_032509.3	NP_115898.2	Q9BXY0	MAK16_HUMAN			5	773	+			106					B2RB44|Q5U5T1|Q86UC4|Q96SY6	Nonsense_Mutation	SNP	ENST00000360128.6	37	c.316C>T	CCDS6089.1	.	.	.	.	.	.	.	.	.	.	C	39	7.602337	0.98384	.	.	ENSG00000198042	ENST00000360128	.	.	.	6.04	3.15	0.36227	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-4.303	14.882	0.70540	0.4904:0.5096:0.0:0.0	.	.	.	.	X	106	.	ENSP00000353246:R106X	R	+	1	2	MAK16	33466123	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.294000	0.33365	0.857000	0.35407	0.561000	0.74099	CGA		0.373	MAK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376559.3	NM_032509		26	48	0	0	0	1	0	26	48				
LOC220729	220729	broad.mit.edu	37	3	197348739	197348739	+	RNA	SNP	G	G	C	rs371325185	byFrequency	TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr3:197348739G>C	ENST00000418868.1	-	0	520					NR_003266.2																						TAATTTTCTAGCTGTGAAAGA	0.398													g|||	29	0.00579073	0.0008	0.0072	5008	,	,		22210	0.002		0.0109	False		,,,				2504	0.0102					ENST00000418868.1																			0																																																			0							g.chr3:197348739G>C																													3.37:g.197348739G>C								NR_003266.2						0	520	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.398	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			5	118	0	0	0	1	0	5	118				
LILRP2	79166	broad.mit.edu	37	19	55221570	55221570	+	RNA	SNP	A	A	C	rs554223424	byFrequency	TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr19:55221570A>C	ENST00000413439.1	+	0	1350									leukocyte immunoglobulin-like receptor pseudogene 2																		TACAGATGCTACGGTGCACAC	0.677													.|||	5	0.000998403	0.0	0.0014	5008	,	,		16629	0.003		0.001	False		,,,				2504	0.0				Ovarian(107;788 1543 20399 31552 46707)	ENST00000413439.1																			0																																																			0							g.chr19:55221570A>C	AF072100		19q13.4	2010-02-17			ENSG00000240258	ENSG00000170858		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"""	15497	pseudogene	pseudogene						10941842	Standard	NR_003061		Approved	ILT10, CD85m	uc002qgs.1		OTTHUMG00000065886		19.37:g.55221570A>C														0	1350	+									RNA	SNP	ENST00000413439.1	37																																																																																						0.677	LILRP2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000141240.2	NM_024317		3	24	0	0	0	1	0	3	24				
VWA3B	200403	broad.mit.edu	37	2	98928369	98928369	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr2:98928369G>T	ENST00000477737.1	+	27	3813	c.3609G>T	c.(3607-3609)gaG>gaT	p.E1203D	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1203										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CAAGACGAGAGAAGCCCAGGA	0.612																																						ENST00000477737.1																			0				NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(3607-3609)gaG>gaT		von Willebrand factor A domain containing 3B							19.0	25.0	23.0					2																	98928369		1878	4087	5965	SO:0001583	missense	200403							g.chr2:98928369G>T	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.3609G>T	2.37:g.98928369G>T	ENSP00000417955:p.Glu1203Asp					VWA3B_ENST00000490947.2_3'UTR	p.E1203D	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN			27	3813	+			1203					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.3609G>T	CCDS42718.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.25|14.25	2.478101|2.478101	0.44044|0.44044	.|.	.|.	ENSG00000168658|ENSG00000168658	ENST00000477737;ENST00000358269|ENST00000473149	T|.	0.08634|.	3.07|.	3.89|3.89	2.07|2.07	0.26955|0.26955	.|.	.|.	.|.	.|.	.|.	T|.	0.35068|.	0.0919|.	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	0.999997|0.999997	D;D|.	0.64830|.	0.994;0.99|.	P;P|.	0.57846|.	0.828;0.677|.	T|.	0.23368|.	-1.0190|.	9|.	0.38643|0.25751	T|T	0.18|0.34	.|.	5.9863|5.9863	0.19436|0.19436	0.236:0.0:0.764:0.0|0.236:0.0:0.764:0.0	.|.	595;1203|.	Q502W6-5;Q502W6|.	.;VWA3B_HUMAN|.	D|X	1203;325|614	ENSP00000417955:E1203D|.	ENSP00000351009:E325D|ENSP00000436153:E614X	E|E	+|+	3|1	2|0	VWA3B|VWA3B	98294801|98294801	0.918000|0.918000	0.31147|0.31147	0.064000|0.064000	0.19789|0.19789	0.042000|0.042000	0.13812|0.13812	1.011000|1.011000	0.29911|0.29911	0.615000|0.615000	0.30124|0.30124	0.491000|0.491000	0.48974|0.48974	GAG|GAA		0.612	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		3	9	1	0	0.150653	1	0.150653	3	9				
C3orf30	152405	broad.mit.edu	37	3	118865903	118865903	+	Silent	SNP	G	G	A			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr3:118865903G>A	ENST00000295622.1	+	1	907	c.867G>A	c.(865-867)caG>caA	p.Q289Q	IGSF11_ENST00000441144.2_5'Flank|IGSF11_ENST00000425327.2_5'Flank|RP11-484M3.5_ENST00000490594.1_5'Flank|IGSF11_ENST00000354673.2_5'Flank	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	289										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		CTTCTGAGCAGACTGACCTCA	0.493																																						ENST00000295622.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34						c.(865-867)caG>caA		chromosome 3 open reading frame 30							80.0	77.0	78.0					3																	118865903		2203	4300	6503	SO:0001819	synonymous_variant	152405							g.chr3:118865903G>A	AK057421	CCDS2984.1	3q13.32	2011-08-09			ENSG00000163424	ENSG00000163424			26553	protein-coding gene	gene with protein product							Standard	NM_152539		Approved	FLJ32859	uc003ecb.1	Q96M34	OTTHUMG00000159349	ENST00000295622.1:c.867G>A	3.37:g.118865903G>A							p.Q289Q	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	1	907	+			289					A1L4B7	Silent	SNP	ENST00000295622.1	37	c.867G>A	CCDS2984.1	.	.	.	.	.	.	.	.	.	.	G	2.491	-0.317495	0.05386	.	.	ENSG00000163424	ENST00000460150;ENST00000473121;ENST00000492792	.	.	.	4.13	-2.38	0.06622	.	.	.	.	.	T	0.17662	0.0424	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24154	-1.0168	4	.	.	.	3.3096	0.2163	0.00162	0.2526:0.2565:0.23:0.2609	.	.	.	.	N	253;82;24	.	.	D	+	1	0	C3orf30	120348593	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.056000	0.11787	-0.513000	0.06496	-0.282000	0.10007	GAC		0.493	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354838.1	NM_152539		3	42	0	0	0	1	0	3	42				
EAF2	55840	broad.mit.edu	37	3	121554193	121554193	+	Nonsense_Mutation	SNP	G	G	T			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr3:121554193G>T	ENST00000273668.2	+	1	132	c.61G>T	c.(61-63)Gag>Tag	p.E21*	IQCB1_ENST00000349820.6_5'Flank|EAF2_ENST00000451944.2_Nonsense_Mutation_p.E21*|EAF2_ENST00000465664.1_3'UTR|IQCB1_ENST00000310864.6_5'Flank	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	21	Necessary for interaction with ELL.				apoptotic process (GO:0006915)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	ELL-EAF complex (GO:0032783)|transcription elongation factor complex (GO:0008023)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		CAAGTTAGGGGAGAGTTTCGA	0.592																																					Esophageal Squamous(194;1942 2097 24663 29345 31866)	ENST00000273668.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9						c.(61-63)Gag>Tag		ELL associated factor 2							59.0	56.0	57.0					3																	121554193		2203	4300	6503	SO:0001587	stop_gained	55840				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding	g.chr3:121554193G>T	AF517829	CCDS3006.1	3q21.1	2007-08-01			ENSG00000145088	ENSG00000145088			23115	protein-coding gene	gene with protein product		607659				12446457, 12907652	Standard	NM_018456		Approved	BM040, TRAITS, U19	uc003een.3	Q96CJ1	OTTHUMG00000159424	ENST00000273668.2:c.61G>T	3.37:g.121554193G>T	ENSP00000273668:p.Glu21*					EAF2_ENST00000465664.1_3'UTR|EAF2_ENST00000451944.2_Nonsense_Mutation_p.E21*	p.E21*	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN		GBM - Glioblastoma multiforme(114;0.0972)	1	132	+			21			Necessary for interaction with ELL.		Q9NZ82	Nonsense_Mutation	SNP	ENST00000273668.2	37	c.61G>T	CCDS3006.1	.	.	.	.	.	.	.	.	.	.	G	37	6.097498	0.97281	.	.	ENSG00000145088	ENST00000273668;ENST00000451944	.	.	.	5.95	3.12	0.35913	.	0.225801	0.44483	D	0.000449	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-0.3226	7.8703	0.29563	0.1498:0.1339:0.7163:0.0	.	.	.	.	X	21	.	ENSP00000273668:E21X	E	+	1	0	EAF2	123036883	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	2.367000	0.44213	0.372000	0.24591	0.563000	0.77884	GAG		0.592	EAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355247.1	NM_018456		12	18	1	0	5.50884e-06	1	5.85314e-06	12	18				
AC073321.4	0	broad.mit.edu	37	2	217475031	217475032	+	lincRNA	INS	-	-	A	rs71401156|rs59472818	byFrequency	TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr2:217475031_217475032insA	ENST00000441803.1	+	0	195																											AATTTTATTTCAAAAAAAAAAA	0.376																																						ENST00000441803.1																			0																																																			0							g.chr2:217475031_217475032insA																													2.37:g.217475042_217475042dupA														0	195	+									RNA	INS	ENST00000441803.1	37																																																																																						0.376	AC073321.4-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000339548.2			3	5						3	5	---	---	---	---
PBX2P1	5088	broad.mit.edu	37	3	142895155	142895155	+	RNA	DEL	C	C	-	rs373179673	byFrequency	TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr3:142895155delC	ENST00000560287.1	+	0	29									pre-B-cell leukemia homeobox 2 pseudogene 1																		GGCCTCAGGGCCCCCCCCCAG	0.746													|||unknown(ALL_OTHER_Ns)	2344	0.468051	0.7186	0.3357	5008	,	,		7117	0.2887		0.4036	False		,,,				2504	0.4744					ENST00000560287.1																			0																																																			0							g.chr3:142895155delC			3q24	2014-03-25	2007-01-30	2007-01-30	ENSG00000244171	ENSG00000244171		"""Homeoboxes / TALE class"""	8635	pseudogene	pseudogene			"""pre-B-cell leukemia transcription factor pseudogene 1"""	PBX2, PBXP1		1682799	Standard	NG_002434		Approved				OTTHUMG00000159350		3.37:g.142895155delC														0	29	+									RNA	DEL	ENST00000560287.1	37																																																																																						0.746	PBX2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417717.1	NG_002434		4	2						4	2	---	---	---	---
SYNPO	11346	broad.mit.edu	37	5	150036401	150036401	+	IGR	DEL	C	C	-			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr5:150036401delC	ENST00000394243.1	+	0	7063				SYNPO_ENST00000307662.4_Frame_Shift_Del_p.P822fs	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin						positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCCTTCGCGCCCATCCCGCG	0.821																																						ENST00000307662.4																			0				NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18						c.(2464-2466)ccfs		synaptopodin							2.0	2.0	2.0					5																	150036401		1495	3265	4760	SO:0001628	intergenic_variant	11346				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding	g.chr5:150036401delC	AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078		5.37:g.150036401delC							p.P822fs	NM_007286.5	NP_009217.3	Q8N3V7	SYNPO_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	2993	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	878			Pro-rich.		A5PKZ8|D3DQG8|O15271|Q9UPX1	Frame_Shift_Del	DEL	ENST00000394243.1	37	c.2464delC	CCDS54937.1																																																																																				0.821	SYNPO-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252371.1	NM_007286		2	4						2	4	---	---	---	---
BUD31	8896	broad.mit.edu	37	7	99015057	99015058	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr7:99015057_99015058delTA	ENST00000403633.2	+	5	752_753	c.223_224delTA	c.(223-225)tatfs	p.Y75fs	PTCD1_ENST00000292478.4_3'UTR|BUD31_ENST00000431419.1_Frame_Shift_Del_p.Y46fs|BUD31_ENST00000222969.5_Frame_Shift_Del_p.Y75fs|BUD31_ENST00000456893.1_Frame_Shift_Del_p.Y34fs			P41223	BUD31_HUMAN	BUD31 homolog (S. cerevisiae)	75				YEYCI -> LDICY (in Ref. 1; AAA20008). {ECO:0000305}.	regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)	4	all_cancers(62;1.76e-08)|all_epithelial(64;1.63e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GACAGAACTCTATGAATATTGT	0.436																																						ENST00000403633.2																			0				autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)	4						c.(223-225)tfs		BUD31 homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	8896				regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity	g.chr7:99015057_99015058delTA	BC022821	CCDS5663.1	7q22.1	2012-06-07	2007-01-12	2006-03-16	ENSG00000106245	ENSG00000106245			29629	protein-coding gene	gene with protein product	"""G10 maternal transcript homolog (Xenopus laevis)"", ""functional spliceosome-associated protein 17"""	603477	"""BUD31 homolog (yeast)"""			7841202	Standard	NM_003910		Approved	YCR063W, EDG-2, EDG2, G10, fSAP17, Cwc14	uc003uqg.4	P41223	OTTHUMG00000154602	ENST00000403633.2:c.223_224delTA	7.37:g.99015057_99015058delTA	ENSP00000386023:p.Tyr75fs					PTCD1_ENST00000292478.4_3'UTR|BUD31_ENST00000456893.1_Frame_Shift_Del_p.Y34fs|BUD31_ENST00000431419.1_Frame_Shift_Del_p.Y46fs|BUD31_ENST00000222969.5_Frame_Shift_Del_p.Y75fs	p.Y75fs			P41223	BUD31_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		5	752_753	+	all_cancers(62;1.76e-08)|all_epithelial(64;1.63e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		75	YEYCI -> LDICY (in Ref. 1; AAA20008).				A4D274|B7Z4S9|D6W5S6|Q6IB53|Q9UDV1	Frame_Shift_Del	DEL	ENST00000403633.2	37	c.223_224delTA	CCDS5663.1																																																																																				0.436	BUD31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336275.1	NM_003910		14	37						14	37	---	---	---	---
CRYBB2P1	1416	broad.mit.edu	37	22	25855682	25855683	+	RNA	INS	-	-	GTGT	rs61433517|rs71322752		TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr22:25855682_25855683insGTGT	ENST00000609084.1	+	0	0									crystallin, beta B2 pseudogene 1																		CCTGGCAGCTGgtgtgtgtgtg	0.53																																						ENST00000354451.2																			0																																																			0							g.chr22:25855682_25855683insGTGT	M18441		22q11.2-q12.1	2012-02-29			ENSG00000100058	ENSG00000100058			2399	pseudogene	pseudogene				CRYB2B			Standard	NR_033733		Approved		uc003abu.4		OTTHUMG00000150874		22.37:g.25855687_25855690dupGTGT														0	366	+									RNA	INS	ENST00000609084.1	37																																																																																						0.530	CRYBB2P1-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000472347.1			4	4						4	4	---	---	---	---
