#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
CORO7	79585	broad.mit.edu	37	16	4411173	4411173	+	Silent	SNP	A	A	C			TCGA-ET-A2N1-01A-11D-A18F-08	TCGA-ET-A2N1-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed3e66e-f784-483f-ac37-1300736584a4	7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5	g.chr16:4411173A>C	ENST00000251166.4	-	18	1909	c.1764T>G	c.(1762-1764)acT>acG	p.T588T	CORO7_ENST00000423908.2_3'UTR|CORO7-PAM16_ENST00000572274.1_5'Flank|CORO7_ENST00000537233.2_Silent_p.T570T|CORO7_ENST00000539968.1_Silent_p.T368T|CORO7-PAM16_ENST00000572467.1_Silent_p.T588T|CORO7_ENST00000574025.1_Silent_p.T503T	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	588					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						CTGTGAGCACAGTCTCTGGCG	0.652																																						uc002cwf.3																			0											c.(1762-1764)acT>acG		Homo sapiens CORO7-PAM16 readthrough (CORO7-PAM16), mRNA.							79.0	82.0	81.0					16																	4411173		2195	4298	6493	SO:0001819	synonymous_variant	100529144							g.chr16:4411173A>C	AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"""Coronins"", ""WD repeat domain containing"""	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.1764T>G	16.37:g.4411173A>C			Somatic				CORO7-PAM16_uc002cwe.3_Non-coding_Transcript|CORO7-PAM16_uc002cwg.4_Silent_p.T368T|CORO7-PAM16_uc002cwh.4_Silent_p.T588T|CORO7-PAM16_uc010uxh.2_Silent_p.T570T|CORO7-PAM16_uc010uxi.2_Silent_p.T503T|CORO7-PAM16_uc002cwi.1_Silent_p.T368T|CORO7-PAM16_uc010uxj.1_Non-coding_Transcript	p.T588T	NM_001201479	NP_001188408	WXS	Illumina GAIIx	Phase_I					17	2207	-								B4DFD6|B4DL18|I3L416|Q17RK4	Silent	SNP	ENST00000251166.4	37	c.1764T>G	CCDS10513.1																																																																																				0.652	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2	NM_024535		13	25	0	0	0	1	0	13	25				
ZNF33B	7582	broad.mit.edu	37	10	43088158	43088158	+	Missense_Mutation	SNP	T	T	C			TCGA-ET-A2N1-01A-11D-A18F-08	TCGA-ET-A2N1-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed3e66e-f784-483f-ac37-1300736584a4	7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5	g.chr10:43088158T>C	ENST00000359467.3	-	5	2354	c.2240A>G	c.(2239-2241)aAg>aGg	p.K747R	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	747					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TTCATAGGGCTTTTCCCCTGT	0.373																																					Melanoma(137;1247 1767 16772 25727 43810)	uc001jaf.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						c.(2239-2241)aAg>aGg		Homo sapiens zinc finger protein 33B (ZNF33B), mRNA.							153.0	148.0	149.0					10																	43088158		2203	4300	6503	SO:0001583	missense	7582					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:43088158T>C	X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"""Zinc fingers, C2H2-type"", ""-"""	13097	protein-coding gene	gene with protein product		194522	"""zinc finger protein 33b (KOX 31)"", ""zinc finger protein 11B"""	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.2240A>G	10.37:g.43088158T>C	ENSP00000352444:p.Lys747Arg		Somatic				ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.K635R|ZNF33B_uc001jad.3_Intron	p.K747R	NM_006955	NP_008886	WXS	Illumina GAIIx	Phase_I	Q06732	ZN33B_HUMAN			4	2355	-			747					Q06731|Q32MA2|Q86XY8|Q8NDW3	Missense_Mutation	SNP	ENST00000359467.3	37	c.2240A>G	CCDS7198.1	.	.	.	.	.	.	.	.	.	.	T	13.72	2.319978	0.41096	.	.	ENSG00000196693	ENST00000359467;ENST00000395836	T	0.24908	1.83	2.64	2.64	0.31445	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35646	N	0.003076	T	0.23611	0.0571	N	0.20574	0.59	0.25257	N	0.989621	B	0.28605	0.217	B	0.43950	0.437	T	0.29305	-1.0016	10	0.56958	D	0.05	.	9.1471	0.36939	0.0:0.0:0.0:1.0	.	747	Q06732	ZN33B_HUMAN	R	747;713	ENSP00000352444:K747R	ENSP00000352444:K747R	K	-	2	0	ZNF33B	42408164	0.102000	0.21896	1.000000	0.80357	0.855000	0.48748	0.185000	0.16958	1.470000	0.48102	0.336000	0.21669	AAG		0.373	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955		3	100	0	0	0	1	0	3	100				
MRPS31	10240	broad.mit.edu	37	13	41331142	41331142	+	Missense_Mutation	SNP	T	T	A			TCGA-ET-A2N1-01A-11D-A18F-08	TCGA-ET-A2N1-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed3e66e-f784-483f-ac37-1300736584a4	7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5	g.chr13:41331142T>A	ENST00000323563.6	-	4	643	c.607A>T	c.(607-609)Aac>Tac	p.N203Y		NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31	203						mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		GATATTATGTTACTGAAACTG	0.343																																						uc001uxm.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13						c.(607-609)Aac>Tac		Homo sapiens mitochondrial ribosomal protein S31 (MRPS31), nuclear gene encoding mitochondrial protein, mRNA.							65.0	62.0	63.0					13																	41331142		2202	4300	6502	SO:0001583	missense	10240					mitochondrion|ribosome	protein domain specific binding	g.chr13:41331142T>A	Z68747	CCDS9372.1	13q14.11	2012-09-13			ENSG00000102738	ENSG00000102738		"""Mitochondrial ribosomal proteins / small subunits"""	16632	protein-coding gene	gene with protein product		611992				11279123, 8567980	Standard	NM_005830		Approved	IMOGN38	uc001uxm.4	Q92665	OTTHUMG00000016777	ENST00000323563.6:c.607A>T	13.37:g.41331142T>A	ENSP00000315397:p.Asn203Tyr		Somatic					p.N203Y	NM_005830	NP_005821	WXS	Illumina GAIIx	Phase_I	Q92665	RT31_HUMAN		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)	3	682	-		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)	203					B2RCS3|Q5VYC8|Q8WTV8	Missense_Mutation	SNP	ENST00000323563.6	37	c.607A>T	CCDS9372.1	.	.	.	.	.	.	.	.	.	.	T	12.29	1.892286	0.33442	.	.	ENSG00000102738	ENST00000323563	T	0.32515	1.45	4.64	2.1	0.27182	.	0.295570	0.37483	N	0.002077	T	0.46983	0.1421	M	0.77616	2.38	0.26572	N	0.973541	D	0.64830	0.994	D	0.63597	0.916	T	0.36578	-0.9742	10	0.72032	D	0.01	.	4.9565	0.14044	0.0:0.1018:0.1945:0.7036	.	203	Q92665	RT31_HUMAN	Y	203	ENSP00000315397:N203Y	ENSP00000315397:N203Y	N	-	1	0	MRPS31	40229142	0.998000	0.40836	0.984000	0.44739	0.328000	0.28507	0.425000	0.21346	0.215000	0.20761	0.455000	0.32223	AAC		0.343	MRPS31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044640.2			18	19	0	0	0	1	0	18	19				
FAM83E	54854	broad.mit.edu	37	19	49116552	49116552	+	Silent	SNP	T	T	C			TCGA-ET-A2N1-01A-11D-A18F-08	TCGA-ET-A2N1-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed3e66e-f784-483f-ac37-1300736584a4	7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5	g.chr19:49116552T>C	ENST00000263266.3	-	1	267	c.78A>G	c.(76-78)ctA>ctG	p.L26L	FAM83E_ENST00000595110.1_5'Flank	NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	26										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CCTCGGAATATAGAAAGCCGG	0.701																																						uc002pjn.2																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10						c.(76-78)ctA>ctG		Homo sapiens family with sequence similarity 83, member E (FAM83E), mRNA.							9.0	10.0	10.0					19																	49116552		1675	3817	5492	SO:0001819	synonymous_variant	54854							g.chr19:49116552T>C	AK000207	CCDS42587.1	19q13.33	2013-10-24			ENSG00000105523	ENSG00000105523			25972	protein-coding gene	gene with protein product							Standard	NM_017708		Approved	FLJ20200	uc002pjn.2	Q2M2I3	OTTHUMG00000183315	ENST00000263266.3:c.78A>G	19.37:g.49116552T>C			Somatic					p.L26L	NM_017708	NP_060178	WXS	Illumina GAIIx	Phase_I	Q2M2I3	FA83E_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	0	143	-		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	26					Q9NXK1	Silent	SNP	ENST00000263266.3	37	c.78A>G	CCDS42587.1																																																																																				0.701	FAM83E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466145.1	NM_017708		6	6	0	0	0	1	0	6	6				
NPAP1	23742	broad.mit.edu	37	15	24923276	24923276	+	Silent	SNP	G	G	A			TCGA-ET-A2N1-01A-11D-A18F-08	TCGA-ET-A2N1-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed3e66e-f784-483f-ac37-1300736584a4	7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5	g.chr15:24923276G>A	ENST00000329468.2	+	1	2736	c.2262G>A	c.(2260-2262)agG>agA	p.R754R		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	754					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											AGTCAGTCAGGGCACCAGCTA	0.572																																						uc001ywo.3																			0		p.V753F(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140						c.(2260-2262)agG>agA		Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.							117.0	124.0	122.0					15																	24923276		2203	4300	6503	SO:0001819	synonymous_variant	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24923276G>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.2262G>A	15.37:g.24923276G>A			Somatic					p.R754R	NM_018958	NP_061831	WXS	Illumina GAIIx	Phase_I	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	0	2736	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	754						Silent	SNP	ENST00000329468.2	37	c.2262G>A	CCDS10015.1																																																																																				0.572	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		7	191	0	0	0	1	0	7	191				
NGFR	4804	broad.mit.edu	37	17	47583935	47583935	+	Silent	SNP	G	G	A			TCGA-ET-A2N1-01A-11D-A18F-08	TCGA-ET-A2N1-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed3e66e-f784-483f-ac37-1300736584a4	7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5	g.chr17:47583935G>A	ENST00000172229.3	+	3	608	c.483G>A	c.(481-483)gtG>gtA	p.V161V	NGFR_ENST00000504201.1_Silent_p.V67V|RP5-1029K10.2_ENST00000514506.1_RNA	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	161					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|detection of temperature stimulus (GO:0016048)|glucose homeostasis (GO:0042593)|hair follicle morphogenesis (GO:0031069)|intracellular protein transport (GO:0006886)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell cycle (GO:0045786)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of hair follicle development (GO:0051799)|nerve development (GO:0021675)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of axonogenesis (GO:0050772)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cell surface (GO:0009986)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	death receptor activity (GO:0005035)|Rab GTPase binding (GO:0017137)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					CCAACCACGTGGACCCGTGCC	0.701																																						uc002ioz.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17						c.(481-483)gtG>gtA		Homo sapiens nerve growth factor receptor (NGFR), mRNA.							31.0	23.0	26.0					17																	47583935		2193	4287	6480	SO:0001819	synonymous_variant	4804				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm		g.chr17:47583935G>A	M14764	CCDS11549.1	17q21-q22	2013-05-22	2010-04-28		ENSG00000064300	ENSG00000064300		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	7809	protein-coding gene	gene with protein product	"""low affinity nerve growth factor receptor"", ""TNFR superfamily, member 16"""	162010	"""nerve growth factor receptor (TNFR superfamily, member 16)"""			3022937, 3006050	Standard	NM_002507		Approved	TNFRSF16, CD271, p75NTR	uc002ioz.4	P08138	OTTHUMG00000161495	ENST00000172229.3:c.483G>A	17.37:g.47583935G>A			Somatic					p.V161V	NM_002507	NP_002498	WXS	Illumina GAIIx	Phase_I	P08138	TNR16_HUMAN			2	608	+	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)		161					B2R961|B4E096	Silent	SNP	ENST00000172229.3	37	c.483G>A	CCDS11549.1																																																																																				0.701	NGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365150.1			9	9	0	0	0	1	0	9	9				
DDX23	9416	broad.mit.edu	37	12	49230719	49230719	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A2N1-01A-11D-A18F-08	TCGA-ET-A2N1-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed3e66e-f784-483f-ac37-1300736584a4	7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5	g.chr12:49230719A>G	ENST00000308025.3	-	9	1047	c.968T>C	c.(967-969)cTa>cCa	p.L323P	DDX23_ENST00000553182.1_5'Flank	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	323					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						CTTCTCCATTAGGTCTCCATA	0.532																																						uc001rsm.3																			0				NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						c.(967-969)cTa>cCa		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 (DDX23), mRNA.							302.0	312.0	309.0					12																	49230719		2203	4300	6503	SO:0001583	missense	9416					U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	g.chr12:49230719A>G	AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"""DEAD-boxes"""	17347	protein-coding gene	gene with protein product		612172	"""PRP28 homolog, yeast"""			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.968T>C	12.37:g.49230719A>G	ENSP00000310723:p.Leu323Pro		Somatic					p.L323P	NM_004818	NP_004809	WXS	Illumina GAIIx	Phase_I	Q9BUQ8	DDX23_HUMAN			8	1059	-			323					B2R600|B4DH15|O43188	Missense_Mutation	SNP	ENST00000308025.3	37	c.968T>C	CCDS8770.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.051342	0.75960	.	.	ENSG00000174243	ENST00000308025	T	0.24908	1.83	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000001	T	0.46425	0.1392	M	0.64170	1.965	0.80722	D	1	D	0.69078	0.997	D	0.64506	0.926	T	0.36866	-0.9730	10	0.46703	T	0.11	-6.8977	14.9188	0.70818	1.0:0.0:0.0:0.0	.	323	Q9BUQ8	DDX23_HUMAN	P	323	ENSP00000310723:L323P	ENSP00000310723:L323P	L	-	2	0	DDX23	47516986	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	9.097000	0.94193	2.170000	0.68504	0.379000	0.24179	CTA		0.532	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408897.2	NM_004818		4	404	0	0	0	1	0	4	404				
YEATS4	8089	broad.mit.edu	37	12	69756619	69756619	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A2N1-01A-11D-A18F-08	TCGA-ET-A2N1-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed3e66e-f784-483f-ac37-1300736584a4	7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5	g.chr12:69756619G>A	ENST00000247843.2	+	2	373	c.103G>A	c.(103-105)Gga>Aga	p.G35R	YEATS4_ENST00000548020.1_Missense_Mutation_p.G35R	NM_006530.2	NP_006521.1	O95619	YETS4_HUMAN	YEATS domain containing 4	35	YEATS. {ECO:0000255|PROSITE- ProRule:PRU00376}.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic nuclear division (GO:0007067)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding transcription factor activity (GO:0003700)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)	5	all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			TCGGTATTTTGGAAAGAAAAG	0.323																																						uc001sux.3																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)	5						c.(103-105)Gga>Aga		Homo sapiens YEATS domain containing 4 (YEATS4), mRNA.							132.0	132.0	132.0					12																	69756619		2203	4300	6503	SO:0001583	missense	8089				histone H2A acetylation|histone H4 acetylation|mitosis|positive regulation of transcription, DNA-dependent|regulation of growth	NuA4 histone acetyltransferase complex|nuclear matrix	DNA binding|protein C-terminus binding|sequence-specific DNA binding transcription factor activity|structural constituent of cytoskeleton	g.chr12:69756619G>A	AJ245746	CCDS8990.1, CCDS73495.1	12q13-q15	2008-02-05				ENSG00000127337			24859	protein-coding gene	gene with protein product		602116				9302258, 11903063	Standard	XM_005269163		Approved	NuBI-1, GAS41, YAF9	uc001sux.3	O95619	OTTHUMG00000169358	ENST00000247843.2:c.103G>A	12.37:g.69756619G>A	ENSP00000247843:p.Gly35Arg		Somatic					p.G35R	NM_006530	NP_006521	WXS	Illumina GAIIx	Phase_I	O95619	YETS4_HUMAN	Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)		1	324	+	all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		35			YEATS.		Q9NQD0	Missense_Mutation	SNP	ENST00000247843.2	37	c.103G>A	CCDS8990.1	.	.	.	.	.	.	.	.	.	.	G	33	5.287581	0.95517	.	.	ENSG00000127337	ENST00000247843;ENST00000548020;ENST00000552955	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.84483	0.5482	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.84551	0.0644	8	.	.	.	-21.7269	20.3736	0.98901	0.0:0.0:1.0:0.0	.	35	O95619	YETS4_HUMAN	R	35	.	.	G	+	1	0	YEATS4	68042886	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.866000	0.99616	2.820000	0.97059	0.650000	0.86243	GGA		0.323	YEATS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403663.1	NM_006530		8	59	0	0	0	1	0	8	59				
SLCO6A1	133482	broad.mit.edu	37	5	101726729	101726729	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A2N1-01A-11D-A18F-08	TCGA-ET-A2N1-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed3e66e-f784-483f-ac37-1300736584a4	7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5	g.chr5:101726729C>T	ENST00000506729.1	-	11	2006	c.1835G>A	c.(1834-1836)cGt>cAt	p.R612H	SLCO6A1_ENST00000389019.3_Missense_Mutation_p.R550H|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.R359H|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.R359H|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.R612H			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	612						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GGCCAGAGAACGCAGTTTGTC	0.328																																						uc003knn.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1834-1836)cGt>cAt		Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.							120.0	117.0	118.0					5																	101726729		2203	4300	6503	SO:0001583	missense	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101726729C>T	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.1835G>A	5.37:g.101726729C>T	ENSP00000421339:p.Arg612His		Somatic				SLCO6A1_uc003kno.3_Missense_Mutation_p.R359H|SLCO6A1_uc003knp.3_Missense_Mutation_p.R612H|SLCO6A1_uc003knq.3_Missense_Mutation_p.R550H	p.R612H	NM_173488	NP_775759	WXS	Illumina GAIIx	Phase_I	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	10	2007	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	612					A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	c.1835G>A	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	C	6.306	0.424574	0.11928	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76	4.9	-0.118	0.13547	Major facilitator superfamily domain, general substrate transporter (1);	0.394210	0.22648	N	0.057364	T	0.36138	0.0956	L	0.52364	1.645	0.09310	N	1	B;P;B	0.39116	0.208;0.66;0.295	B;B;B	0.40602	0.024;0.334;0.061	T	0.17048	-1.0382	10	0.42905	T	0.14	.	3.777	0.08665	0.0:0.3445:0.1917:0.4638	.	550;359;612	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	H	612;612;550;359;359	ENSP00000421339:R612H;ENSP00000369135:R612H;ENSP00000373671:R550H;ENSP00000421990:R359H;ENSP00000369138:R359H	ENSP00000369135:R612H	R	-	2	0	SLCO6A1	101754628	0.043000	0.20138	0.001000	0.08648	0.478000	0.33099	0.236000	0.17967	0.069000	0.16605	0.655000	0.94253	CGT		0.328	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		36	66	0	0	0	1	0	36	66				
DHRS4L2	317749	broad.mit.edu	37	14	24459498	24459498	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A2N1-01A-11D-A18F-08	TCGA-ET-A2N1-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed3e66e-f784-483f-ac37-1300736584a4	7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5	g.chr14:24459498A>G	ENST00000335125.6	+	2	362	c.236A>G	c.(235-237)gAg>gGg	p.E79G	DHRS4L2_ENST00000545240.1_Missense_Mutation_p.E79G|DHRS4L2_ENST00000558753.1_Missense_Mutation_p.E79G|DHRS4L2_ENST00000382755.4_Missense_Mutation_p.E77G|DHRS4L2_ENST00000397071.1_Missense_Mutation_p.E79G|DHRS4L2_ENST00000543805.1_5'UTR|DHRS4L2_ENST00000537912.1_Missense_Mutation_p.E79G|DHRS4L2_ENST00000534993.1_5'UTR	NM_198083.3	NP_932349.2	Q6PKH6	DR4L2_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	77						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		CTGCAGGGGGAGGGGCTGAGC	0.687																																						uc001wli.4																			0				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(235-237)gAg>gGg		Homo sapiens dehydrogenase/reductase (SDR family) member 4 like 2 (DHRS4L2), transcript variant 1, mRNA.	Vitamin A(DB00162)						37.0	40.0	39.0					14																	24459498		2201	4298	6499	SO:0001583	missense	10901					mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity	g.chr14:24459498A>G		CCDS9606.2, CCDS73621.1	14q11.2	2011-09-14			ENSG00000187630	ENSG00000187630	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	19731	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 3"""	615196					Standard	NM_001193635		Approved	SDR25C3	uc001wlf.3	Q6PKH6	OTTHUMG00000028778	ENST00000335125.6:c.236A>G	14.37:g.24459498A>G	ENSP00000334801:p.Glu79Gly		Somatic				DHRS4_uc021rrd.1_Intron|DHRS4_uc021rrf.1_Missense_Mutation_p.E77G|DHRS4_uc001wld.4_Intron|DHRS4_uc001wle.4_Intron|DHRS4_uc001wlc.4_Intron|DHRS4L2_uc021rra.1_3'UTR|DHRS4_uc021rrb.1_5'UTR|DHRS4_uc021rrc.1_5'UTR|DHRS4_uc021rre.1_Missense_Mutation_p.E51G|DHRS4_uc010tnt.2_Missense_Mutation_p.E77G	p.E79G	NM_198083	NP_001180565	WXS	Illumina GAIIx	Phase_I	Q9BTZ2	DHRS4_HUMAN		GBM - Glioblastoma multiforme(265;0.00962)	1	366	+			79					Q3YLD4	Missense_Mutation	SNP	ENST00000335125.6	37	c.236A>G	CCDS9606.2	.	.	.	.	.	.	.	.	.	.	A	11.51	1.660349	0.29515	.	.	ENSG00000187630	ENST00000348916;ENST00000397071;ENST00000335125;ENST00000537912;ENST00000545240;ENST00000382755	D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33	3.5	3.5	0.40072	NAD(P)-binding domain (1);	0.313351	0.34386	N	0.004018	D	0.86793	0.6018	N	0.21508	0.67	0.80722	D	1	B;D	0.76494	0.198;0.999	B;D	0.70935	0.17;0.971	D	0.86244	0.1645	10	0.49607	T	0.09	.	10.2563	0.43399	1.0:0.0:0.0:0.0	.	79;77	F6TD35;Q6PKH6	.;DR4L2_HUMAN	G	51;79;79;79;79;77	ENSP00000380261:E79G;ENSP00000334801:E79G;ENSP00000439942:E79G;ENSP00000437883:E79G;ENSP00000372203:E77G	ENSP00000334801:E79G	E	+	2	0	DHRS4L2	23529338	1.000000	0.71417	0.794000	0.32065	0.040000	0.13550	6.397000	0.73239	1.364000	0.46038	0.338000	0.21704	GAG		0.687	DHRS4L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000071858.4			3	50	0	0	0	1	0	3	50				
LRP1	4035	broad.mit.edu	37	12	57572249	57572249	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A2N1-01A-11D-A18F-08	TCGA-ET-A2N1-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed3e66e-f784-483f-ac37-1300736584a4	7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5	g.chr12:57572249A>G	ENST00000243077.3	+	27	4935	c.4469A>G	c.(4468-4470)gAg>gGg	p.E1490G		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1490					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TACGGGGGGGAGGTCTACTGG	0.592																																						uc001snd.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(4468-4470)gAg>gGg		Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						105.0	93.0	97.0					12																	57572249		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57572249A>G	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.4469A>G	12.37:g.57572249A>G	ENSP00000243077:p.Glu1490Gly		Somatic					p.E1490G	NM_002332	NP_002323	WXS	Illumina GAIIx	Phase_I	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	26	4935	+			1490					Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.4469A>G	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	A	13.21	2.167804	0.38315	.	.	ENSG00000123384	ENST00000243077	D	0.91011	-2.77	4.8	4.8	0.61643	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000001	D	0.92499	0.7618	L	0.46157	1.445	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.90657	0.4587	10	0.25751	T	0.34	.	13.4735	0.61295	1.0:0.0:0.0:0.0	.	1490	Q07954	LRP1_HUMAN	G	1490	ENSP00000243077:E1490G	ENSP00000243077:E1490G	E	+	2	0	LRP1	55858516	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.139000	0.94554	2.026000	0.59711	0.459000	0.35465	GAG		0.592	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		3	73	0	0	0	1	0	3	73				
RABEP2	79874	broad.mit.edu	37	16	28920058	28920058	+	Missense_Mutation	SNP	G	G	T			TCGA-ET-A2N1-01A-11D-A18F-08	TCGA-ET-A2N1-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed3e66e-f784-483f-ac37-1300736584a4	7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5	g.chr16:28920058G>T	ENST00000358201.4	-	8	1705	c.1117C>A	c.(1117-1119)Ctg>Atg	p.L373M	RABEP2_ENST00000544477.1_Missense_Mutation_p.L302M|RABEP2_ENST00000357573.6_Missense_Mutation_p.L341M	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	373					endocytosis (GO:0006897)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						TCATGGTGCAGGCACTTGTGG	0.602																																					Pancreas(66;639 1284 10093 31061 49099)	uc002drq.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						c.(1117-1119)Ctg>Atg		Homo sapiens rabaptin, RAB GTPase binding effector protein 2 (RABEP2), mRNA.							129.0	133.0	132.0					16																	28920058		2072	4199	6271	SO:0001583	missense	79874				endocytosis|protein transport	early endosome	GTPase activator activity|growth factor activity	g.chr16:28920058G>T	AK026935	CCDS42140.1	16p11.2	2014-09-11			ENSG00000177548	ENSG00000177548			24817	protein-coding gene	gene with protein product		611869				12477932	Standard	NM_024816		Approved	FRA, FLJ23282	uc002drq.3	Q9H5N1	OTTHUMG00000176593	ENST00000358201.4:c.1117C>A	16.37:g.28920058G>T	ENSP00000350934:p.Leu373Met		Somatic				NPIPL1_uc010vct.2_Intron|RABEP2_uc010vdf.2_Missense_Mutation_p.L302M|RABEP2_uc010byn.3_Missense_Mutation_p.L341M	p.L373M	NM_024816	NP_079092	WXS	Illumina GAIIx	Phase_I	Q9H5N1	RABE2_HUMAN			7	1165	-			373						Missense_Mutation	SNP	ENST00000358201.4	37	c.1117C>A	CCDS42140.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.966815	0.53507	.	.	ENSG00000177548	ENST00000358201;ENST00000357573;ENST00000544477	T;T;T	0.38240	1.15;1.15;1.15	4.78	3.74	0.42951	Rabaptin, GTPase-Rab5 binding (1);	0.333064	0.24039	N	0.042112	T	0.44664	0.1304	L	0.41236	1.265	0.29872	N	0.826743	D;D;B	0.58970	0.984;0.98;0.383	P;P;P	0.59889	0.865;0.788;0.549	T	0.40136	-0.9579	10	0.72032	D	0.01	-16.2791	11.7519	0.51853	0.0:0.1958:0.8042:0.0	.	302;341;373	B4DHR0;Q9H5N1-2;Q9H5N1	.;.;RABE2_HUMAN	M	373;341;302	ENSP00000350934:L373M;ENSP00000350186:L341M;ENSP00000442798:L302M	ENSP00000350186:L341M	L	-	1	2	RABEP2	28827559	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	3.120000	0.50430	2.210000	0.71456	0.462000	0.41574	CTG		0.602	RABEP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432691.1	NM_024816		41	71	0	0	0	1	0	41	71				
TBC1D12	23232	broad.mit.edu	37	10	96163149	96163149	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ET-A2N1-01A-11D-A18F-08	TCGA-ET-A2N1-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed3e66e-f784-483f-ac37-1300736584a4	7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5	g.chr10:96163149delC	ENST00000225235.4	+	1	889	c.779delC	c.(778-780)gcgfs	p.A260fs		NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	260							Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				AATGGGGGTGCGGAGCCGCGC	0.701																																						uc001kjr.2																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20						c.(778-780)gcgfs		Homo sapiens TBC1 domain family, member 12 (TBC1D12), mRNA.							6.0	9.0	8.0					10																	96163149		1731	3835	5566	SO:0001589	frameshift_variant	23232					intracellular	Rab GTPase activator activity	g.chr10:96163149delC	AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239			29082	protein-coding gene	gene with protein product						9628581	Standard	NM_015188		Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794	ENST00000225235.4:c.779delC	10.37:g.96163149delC	ENSP00000225235:p.Ala260fs		Somatic					p.A260fs	NM_015188	NP_056003	WXS	Illumina GAIIx	Phase_I	O60347	TBC12_HUMAN			0	964	+		Colorectal(252;0.0429)	260					Q5VYA6|Q8WX26|Q8WX59|Q9UG83	Frame_Shift_Del	DEL	ENST00000225235.4	37	c.779delC	CCDS41553.1																																																																																				0.701	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049482.2			2	4						2	4	---	---	---	---
