#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
COL6A6	131873	broad.mit.edu	37	3	130284243	130284243	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4K4-01A-11D-A257-08	TCGA-EL-A4K4-11A-21D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d4113a-f9a3-4581-a160-6074c4ef4dfe	4a0d57bd-9de2-4474-b547-f24b85e050d1	g.chr3:130284243G>A	ENST00000358511.6	+	3	1098	c.1067G>A	c.(1066-1068)cGa>cAa	p.R356Q	COL6A6_ENST00000453409.2_Missense_Mutation_p.R356Q	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	356	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GTTAACCTCCGACGGGAGGGT	0.567																																						ENST00000358511.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(1066-1068)cGa>cAa		collagen, type VI, alpha 6							158.0	168.0	164.0					3																	130284243		2012	4183	6195	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130284243G>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.1067G>A	3.37:g.130284243G>A	ENSP00000351310:p.Arg356Gln					COL6A6_ENST00000453409.2_Missense_Mutation_p.R356Q	p.R356Q	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			3	1098	+			356			Nonhelical region.|VWFA 2.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.1067G>A	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921984	0.73213	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.80824	-1.42;-1.42	5.01	5.01	0.66863	von Willebrand factor, type A (3);	0.000000	0.53938	D	0.000045	D	0.87386	0.6164	M	0.71920	2.185	0.32172	N	0.581533	D	0.89917	1.0	D	0.68765	0.96	D	0.87618	0.2508	10	0.33141	T	0.24	.	14.0723	0.64868	0.0:0.0:0.8487:0.1513	.	356	A6NMZ7	CO6A6_HUMAN	Q	356	ENSP00000351310:R356Q;ENSP00000399236:R356Q	ENSP00000351310:R356Q	R	+	2	0	COL6A6	131766933	0.998000	0.40836	1.000000	0.80357	0.727000	0.41649	4.233000	0.58651	2.492000	0.84095	0.561000	0.74099	CGA		0.567	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		56	66	0	0	0	1	0	56	66				
FHDC1	85462	broad.mit.edu	37	4	153864423	153864423	+	Missense_Mutation	SNP	A	A	C			TCGA-EL-A4K4-01A-11D-A257-08	TCGA-EL-A4K4-11A-21D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d4113a-f9a3-4581-a160-6074c4ef4dfe	4a0d57bd-9de2-4474-b547-f24b85e050d1	g.chr4:153864423A>C	ENST00000511601.1	+	2	402	c.214A>C	c.(214-216)Atc>Ctc	p.I72L	FHDC1_ENST00000260008.3_Missense_Mutation_p.I72L			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	72									ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GGAGCCTCCCATCCCACCTCC	0.557																																						ENST00000511601.1																		ARFIP1/FHDC1(2)	0				NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(214-216)Atc>Ctc		FH2 domain containing 1							29.0	31.0	30.0					4																	153864423		2197	4275	6472	SO:0001583	missense	85462				actin cytoskeleton organization		actin binding	g.chr4:153864423A>C	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.214A>C	4.37:g.153864423A>C	ENSP00000427567:p.Ile72Leu					FHDC1_ENST00000260008.3_Missense_Mutation_p.I72L	p.I72L			Q9C0D6	FHDC1_HUMAN			2	402	+	all_hematologic(180;0.093)		72						Missense_Mutation	SNP	ENST00000511601.1	37	c.214A>C	CCDS34081.1	.	.	.	.	.	.	.	.	.	.	A	1.329	-0.597231	0.03771	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.27402	1.67;1.67	4.85	-1.5	0.08691	Actin-binding FH2 (1);	2.058450	0.01720	N	0.028232	T	0.15176	0.0366	N	0.14661	0.345	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.06661	-1.0814	10	0.14252	T	0.57	.	1.4964	0.02467	0.3314:0.1332:0.3993:0.1361	.	72	Q9C0D6	FHDC1_HUMAN	L	72	ENSP00000427567:I72L;ENSP00000260008:I72L	ENSP00000260008:I72L	I	+	1	0	FHDC1	154083873	0.000000	0.05858	0.000000	0.03702	0.341000	0.28922	-0.151000	0.10175	-0.652000	0.05408	-0.468000	0.05107	ATC		0.557	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		9	25	0	0	0	1	0	9	25				
EMILIN3	90187	broad.mit.edu	37	20	39991087	39991087	+	Silent	SNP	C	C	T			TCGA-EL-A4K4-01A-11D-A257-08	TCGA-EL-A4K4-11A-21D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d4113a-f9a3-4581-a160-6074c4ef4dfe	4a0d57bd-9de2-4474-b547-f24b85e050d1	g.chr20:39991087C>T	ENST00000332312.3	-	4	1314	c.1122G>A	c.(1120-1122)caG>caA	p.Q374Q		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	374						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CGCTCAGGCCCTGCAGCTGGC	0.672																																						ENST00000332312.3																			0				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30						c.(1120-1122)caG>caA		elastin microfibril interfacer 3																																				SO:0001819	synonymous_variant	90187					proteinaceous extracellular matrix		g.chr20:39991087C>T	AL031667	CCDS13316.1	20q12	2005-11-06	2004-03-02	2004-03-02	ENSG00000183798	ENSG00000183798		"""EMI domain containing"""	16123	protein-coding gene	gene with protein product	"""chromosome 20 open reading frame 130"""	608929	"""elastin microfibril interfacer 5"""	C20orf130, EMILIN5		12221002	Standard	NM_052846		Approved	dJ620E11.4	uc002xjy.1	Q9NT22	OTTHUMG00000046304	ENST00000332312.3:c.1122G>A	20.37:g.39991087C>T							p.Q374Q	NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN			4	1314	-		Myeloproliferative disorder(115;0.00425)	374					Q495S5|Q495S6|Q495S7|Q76KT4	Silent	SNP	ENST00000332312.3	37	c.1122G>A	CCDS13316.1																																																																																				0.672	EMILIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106876.2	XM_029741		3	21	0	0	0	1	0	3	21				
ADO	84890	broad.mit.edu	37	10	64565221	64565221	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A4K4-01A-11D-A257-08	TCGA-EL-A4K4-11A-21D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d4113a-f9a3-4581-a160-6074c4ef4dfe	4a0d57bd-9de2-4474-b547-f24b85e050d1	g.chr10:64565221C>A	ENST00000373783.1	+	1	706	c.402C>A	c.(400-402)gaC>gaA	p.D134E	RP11-436D10.3_ENST00000425290.1_RNA	NM_032804.5	NP_116193.2	Q96SZ5	AEDO_HUMAN	2-aminoethanethiol (cysteamine) dioxygenase	134						mitochondrion (GO:0005739)	cysteamine dioxygenase activity (GO:0047800)|metal ion binding (GO:0046872)			lung(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					GCTGCATGGACAAGCTAGACG	0.716																																						ENST00000373783.1																			0				lung(2)	2						c.(400-402)gaC>gaA		2-aminoethanethiol (cysteamine) dioxygenase							6.0	5.0	5.0					10																	64565221		1983	3894	5877	SO:0001583	missense	84890						cysteamine dioxygenase activity|metal ion binding	g.chr10:64565221C>A	BC028589	CCDS7266.2	10q21.3	2007-08-28	2007-08-28	2007-08-28	ENSG00000181915	ENSG00000181915	1.13.11.19		23506	protein-coding gene	gene with protein product	"""cysteamine dioxygenase"""	611392	"""chromosome 10 open reading frame 22"""	C10orf22		17581819	Standard	NM_032804		Approved	FLJ14547	uc001jmg.3	Q96SZ5	OTTHUMG00000018306	ENST00000373783.1:c.402C>A	10.37:g.64565221C>A	ENSP00000362888:p.Asp134Glu					RP11-436D10.3_ENST00000425290.1_RNA	p.D134E	NM_032804.5	NP_116193.2	Q96SZ5	AEDO_HUMAN			1	706	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		134					B1AL29	Missense_Mutation	SNP	ENST00000373783.1	37	c.402C>A	CCDS7266.2	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759305	0.89932	.	.	ENSG00000181915	ENST00000373783	T	0.55413	0.52	5.07	5.07	0.68467	Cupin, RmlC-type (1);RmlC-like jelly roll fold (1);	0.109027	0.64402	D	0.000012	T	0.73265	0.3565	M	0.88979	2.995	0.53688	D	0.999971	D	0.56746	0.977	D	0.67382	0.951	T	0.76526	-0.2927	10	0.49607	T	0.09	-26.846	10.8793	0.46929	0.0:0.9115:0.0:0.0885	.	134	Q96SZ5	AEDO_HUMAN	E	134	ENSP00000362888:D134E	ENSP00000362888:D134E	D	+	3	2	ADO	64235227	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.158000	0.50723	2.356000	0.79943	0.650000	0.86243	GAC		0.716	ADO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048243.2	NM_032804		2	0	1	0	0.0784	1	0.0784	2	0				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A4K4-01A-11D-A257-08	TCGA-EL-A4K4-11A-21D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d4113a-f9a3-4581-a160-6074c4ef4dfe	4a0d57bd-9de2-4474-b547-f24b85e050d1	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		14	39	0	0	0	1	0	14	39				
ITCH	83737	broad.mit.edu	37	20	33057876	33057876	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A4K4-01A-11D-A257-08	TCGA-EL-A4K4-11A-21D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d4113a-f9a3-4581-a160-6074c4ef4dfe	4a0d57bd-9de2-4474-b547-f24b85e050d1	g.chr20:33057876A>G	ENST00000262650.6	+	16	1707	c.1571A>G	c.(1570-1572)tAt>tGt	p.Y524C	ITCH_ENST00000535650.1_Missense_Mutation_p.Y373C|ITCH_ENST00000374864.4_Missense_Mutation_p.Y483C|ITCH_ENST00000483727.1_3'UTR			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	524					apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						CAGATAGCCTATGTTCGGGAC	0.408																																						ENST00000374864.4																			0				NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1447-1449)tAt>tGt		itchy E3 ubiquitin protein ligase							259.0	245.0	250.0					20																	33057876		2203	4300	6503	SO:0001583	missense	83737				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity	g.chr20:33057876A>G	AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"""itchy (mouse homolog) E3 ubiquitin protein ligase"", ""itchy E3 ubiquitin protein ligase homolog (mouse)"""			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.1571A>G	20.37:g.33057876A>G	ENSP00000262650:p.Tyr524Cys					ITCH_ENST00000483727.1_3'UTR|ITCH_ENST00000535650.1_Missense_Mutation_p.Y373C|ITCH_ENST00000262650.6_Missense_Mutation_p.Y524C	p.Y483C	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN			15	1661	+			524			WW 4.		A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Missense_Mutation	SNP	ENST00000262650.6	37	c.1448A>G	CCDS58768.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.725526	0.89298	.	.	ENSG00000078747	ENST00000374864;ENST00000535650;ENST00000262650	T;T;T	0.37411	1.21;1.2;1.58	6.07	6.07	0.98685	.	0.114890	0.64402	D	0.000009	T	0.64000	0.2559	M	0.82193	2.58	0.80722	D	1	D;P;D	0.69078	0.997;0.936;0.997	D;B;P	0.70227	0.968;0.273;0.884	T	0.69139	-0.5224	10	0.87932	D	0	.	16.3021	0.82825	1.0:0.0:0.0:0.0	.	435;524;483	B4DN85;Q96J02;Q5QP37	.;ITCH_HUMAN;.	C	483;373;524	ENSP00000363998:Y483C;ENSP00000445608:Y373C;ENSP00000262650:Y524C	ENSP00000262650:Y524C	Y	+	2	0	ITCH	32521537	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.958000	0.93099	2.326000	0.78906	0.533000	0.62120	TAT		0.408	ITCH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078783.2			49	103	0	0	0	1	0	49	103				
HLA-DRB6	3128	broad.mit.edu	37	6	32522495	32522495	+	RNA	SNP	G	G	A	rs184809771	byFrequency	TCGA-EL-A4K4-01A-11D-A257-08	TCGA-EL-A4K4-11A-21D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d4113a-f9a3-4581-a160-6074c4ef4dfe	4a0d57bd-9de2-4474-b547-f24b85e050d1	g.chr6:32522495G>A	ENST00000411500.1	-	0	711					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		GGCTCGTCACGCTTGGATGCT	0.527																																						ENST00000411500.1																			0																																																			0							g.chr6:32522495G>A	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32522495G>A								NR_001298.1						0	711	-									RNA	SNP	ENST00000411500.1	37																																																																																						0.527	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		5	42	0	0	0	1	0	5	42				
OR10H2	26538	broad.mit.edu	37	19	15839218	15839218	+	Missense_Mutation	SNP	G	G	A	rs549916970	byFrequency	TCGA-EL-A4K4-01A-11D-A257-08	TCGA-EL-A4K4-11A-21D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d4113a-f9a3-4581-a160-6074c4ef4dfe	4a0d57bd-9de2-4474-b547-f24b85e050d1	g.chr19:15839218G>A	ENST00000305899.3	+	1	385	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					GGCTACGACCGCTACGTGGCC	0.647																																						ENST00000305899.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27						c.(364-366)cGc>cAc		olfactory receptor, family 10, subfamily H, member 2							59.0	51.0	54.0					19																	15839218		2203	4298	6501	SO:0001583	missense	26538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15839218G>A	AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"""GPCR / Class A : Olfactory receptors"""	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.365G>A	19.37:g.15839218G>A	ENSP00000306095:p.Arg122His						p.R122H	NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN			1	385	+	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)		122					Q6IFQ1|Q96R58	Missense_Mutation	SNP	ENST00000305899.3	37	c.365G>A	CCDS12333.1	.	.	.	.	.	.	.	.	.	.	.	17.55	3.418735	0.62622	.	.	ENSG00000171942	ENST00000305899	T	0.77489	-1.1	3.4	3.4	0.38934	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000115	T	0.79257	0.4415	M	0.89785	3.06	0.39779	D	0.972277	P	0.35684	0.515	B	0.30572	0.117	D	0.83923	0.0302	10	0.87932	D	0	.	12.3469	0.55126	0.0:0.0:1.0:0.0	.	122	O60403	O10H2_HUMAN	H	122	ENSP00000306095:R122H	ENSP00000306095:R122H	R	+	2	0	OR10H2	15700218	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.970000	0.76099	1.446000	0.47643	0.537000	0.68136	CGC		0.647	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460917.1			24	40	0	0	0	1	0	24	40				
LRRC37A6P	387646	broad.mit.edu	37	10	27539266	27539266	+	lincRNA	SNP	C	C	T	rs191098437		TCGA-EL-A4K4-01A-11D-A257-08	TCGA-EL-A4K4-11A-21D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d4113a-f9a3-4581-a160-6074c4ef4dfe	4a0d57bd-9de2-4474-b547-f24b85e050d1	g.chr10:27539266C>T	ENST00000574842.1	+	0	535				LRRC37A6P_ENST00000284414.4_RNA																							TCCTGCTGGGCTGGAGAAGAT	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		19141	0.0		0.001	False		,,,				2504	0.0					ENST00000574842.1																			0															C		0,1384		0,0,692	39.0	38.0	39.0			-1.2	0.0	10		39	6,3176		0,6,1585	no	intergenic				0,6,2277	TT,TC,CC		0.1886,0.0,0.1314			27539266	6,4560	692	1591	2283			0							g.chr10:27539266C>T																													10.37:g.27539266C>T						LRRC37A6P_ENST00000284414.4_RNA								0	535	+									RNA	SNP	ENST00000574842.1	37																																																																																						0.567	RP11-85G18.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000436904.1			4	49	0	0	0	1	0	4	49				
TRIM6	117854	broad.mit.edu	37	11	5624780	5624780	+	Missense_Mutation	SNP	C	C	T	rs61758093		TCGA-EL-A4K4-01A-11D-A257-08	TCGA-EL-A4K4-11A-21D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d4113a-f9a3-4581-a160-6074c4ef4dfe	4a0d57bd-9de2-4474-b547-f24b85e050d1	g.chr11:5624780C>T	ENST00000278302.5	+	2	378	c.238C>T	c.(238-240)Cgg>Tgg	p.R80W	TRIM6_ENST00000507320.1_Intron|TRIM6_ENST00000506134.1_Intron|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000515022.1_Intron|TRIM6_ENST00000445329.1_Intron|TRIM6_ENST00000380097.3_Missense_Mutation_p.R108W|TRIM6_ENST00000380107.1_Missense_Mutation_p.R80W|HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.R108W	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6	80					protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		CATAGTGAGGCGGCTCAGAGA	0.552																																						ENST00000380097.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22						c.(322-324)Cgg>Tgg		tripartite motif containing 6		C	TRP/ARG,TRP/ARG,,,TRP/ARG	6,4396	11.4+/-27.6	0,6,2195	87.0	87.0	87.0		322,322,,,238	1.6	0.5	11	dbSNP_129	87	0,8594		0,0,4297	no	missense,missense,intron,intron,missense	TRIM6,TRIM6-TRIM34	NM_001003818.2,NM_001003819.3,NM_001198644.1,NM_001198645.1,NM_058166.4	101,101,,,101	0,6,6492	TT,TC,CC		0.0,0.1363,0.0462	probably-damaging,probably-damaging,,,probably-damaging	108/517,108/843,,,80/489	5624780	6,12990	2201	4297	6498	SO:0001583	missense	117854							g.chr11:5624780C>T	AF220030	CCDS31389.1, CCDS31390.1, CCDS55738.1	11p15	2013-01-09	2011-01-25		ENSG00000121236	ENSG00000121236		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16277	protein-coding gene	gene with protein product		607564	"""tripartite motif-containing 6"""			11331580	Standard	NM_058166		Approved	RNF89		Q9C030	OTTHUMG00000150029	ENST00000278302.5:c.238C>T	11.37:g.5624780C>T	ENSP00000278302:p.Arg80Trp					TRIM6_ENST00000380107.1_Missense_Mutation_p.R80W|TRIM6_ENST00000278302.5_Missense_Mutation_p.R80W|TRIM6_ENST00000515022.1_Intron|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.R108W|TRIM6_ENST00000506134.1_Intron|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000507320.1_Intron|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000445329.1_Intron	p.R108W	NM_001003818.2|NM_001198644.1|NM_001198645.1	NP_001003818.1|NP_001185573.1|NP_001185574.1				Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)	2	564	+		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)						A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	Missense_Mutation	SNP	ENST00000278302.5	37	c.322C>T	CCDS31390.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.977229	0.34848	0.001363	0.0	ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000258659;ENSG00000258588	ENST00000278302;ENST00000380107;ENST00000380097;ENST00000337072;ENST00000354852	D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92	4.04	1.6	0.23607	Zinc finger, RING/FYVE/PHD-type (1);	.	.	.	.	D	0.92453	0.7604	M	0.90082	3.085	0.21064	N	0.999794	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.987;0.982;0.999;0.998	T	0.83115	-0.0121	9	0.59425	D	0.04	.	9.5348	0.39216	0.6522:0.3478:0.0:0.0	rs61758093	80;108;108;80	E9PFM0;B2RNG4;Q9C030-2;Q9C030	.;.;.;TRIM6_HUMAN	W	80;80;108;108;108	ENSP00000278302:R80W;ENSP00000369450:R80W;ENSP00000369440:R108W;ENSP00000346916:R108W	ENSP00000278302:R80W	R	+	1	2	TRIM34;TRIM6;TRIM6-TRIM34	5581356	0.001000	0.12720	0.536000	0.28039	0.451000	0.32288	0.636000	0.24644	0.325000	0.23359	-0.266000	0.10368	CGG		0.552	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143376.2	NM_001003818		10	43	0	0	0	1	0	10	43				
NCOR2	9612	broad.mit.edu	37	12	124827559	124827559	+	Missense_Mutation	SNP	A	A	T			TCGA-EL-A4K4-01A-11D-A257-08	TCGA-EL-A4K4-11A-21D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d4113a-f9a3-4581-a160-6074c4ef4dfe	4a0d57bd-9de2-4474-b547-f24b85e050d1	g.chr12:124827559A>T	ENST00000405201.1	-	33	4928	c.4928T>A	c.(4927-4929)cTg>cAg	p.L1643Q	NCOR2_ENST00000429285.2_Missense_Mutation_p.L1633Q|NCOR2_ENST00000397355.1_Missense_Mutation_p.L1634Q|NCOR2_ENST00000404621.1_Missense_Mutation_p.L1633Q|NCOR2_ENST00000356219.3_Missense_Mutation_p.L1650Q|NCOR2_ENST00000404121.2_Missense_Mutation_p.L1204Q			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1651					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		ACCTGCGTCCAGAGGGATGCC	0.637																																						ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(4948-4950)cTg>cAg		nuclear receptor corepressor 2							27.0	31.0	30.0					12																	124827559		2038	4180	6218	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124827559A>T	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.4928T>A	12.37:g.124827559A>T	ENSP00000384018:p.Leu1643Gln					NCOR2_ENST00000429285.2_Missense_Mutation_p.L1633Q|NCOR2_ENST00000405201.1_Missense_Mutation_p.L1643Q|NCOR2_ENST00000404621.1_Missense_Mutation_p.L1633Q|NCOR2_ENST00000404121.2_Missense_Mutation_p.L1204Q|NCOR2_ENST00000397355.1_Missense_Mutation_p.L1634Q	p.L1650Q	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	34	5104	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		1651					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.4949T>A	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	A	16.83	3.231792	0.58777	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285	T;T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11;0.11	5.14	5.14	0.70334	.	0.258733	0.33364	N	0.004985	T	0.75554	0.3865	M	0.74258	2.255	0.45330	D	0.998327	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.79279	-0.1869	10	0.87932	D	0	-24.2164	14.942	0.71000	1.0:0.0:0.0:0.0	.	1633;1634;1643	C9J0Q5;C9J239;C9JFD3	.;.;.	Q	1643;1633;1650;1634;1642;1204;1633	ENSP00000384018:L1643Q;ENSP00000384202:L1633Q;ENSP00000348551:L1650Q;ENSP00000380513:L1634Q;ENSP00000385618:L1204Q;ENSP00000400281:L1633Q	ENSP00000348551:L1650Q	L	-	2	0	NCOR2	123393512	1.000000	0.71417	0.949000	0.38748	0.832000	0.47134	8.415000	0.90241	1.920000	0.55613	0.459000	0.35465	CTG		0.637	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		3	22	0	0	0	1	0	3	22				
BSN	8927	broad.mit.edu	37	3	49689975	49689975	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A4K4-01A-11D-A257-08	TCGA-EL-A4K4-11A-21D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d4113a-f9a3-4581-a160-6074c4ef4dfe	4a0d57bd-9de2-4474-b547-f24b85e050d1	g.chr3:49689975C>T	ENST00000296452.4	+	5	3100	c.2986C>T	c.(2986-2988)Ccc>Tcc	p.P996S		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	996					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GGGCACCTCTCCCACCTCTCT	0.647																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(2986-2988)Ccc>Tcc		bassoon presynaptic cytomatrix protein							40.0	36.0	37.0					3																	49689975		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49689975C>T	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.2986C>T	3.37:g.49689975C>T	ENSP00000296452:p.Pro996Ser						p.P996S	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	3100	+			996					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.2986C>T	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.039829	0.55003	.	.	ENSG00000164061	ENST00000296452	T	0.39787	1.06	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.67040	0.2851	M	0.77313	2.365	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.69957	-0.5004	10	0.54805	T	0.06	.	18.2681	0.90059	0.0:1.0:0.0:0.0	.	996	Q9UPA5	BSN_HUMAN	S	996	ENSP00000296452:P996S	ENSP00000296452:P996S	P	+	1	0	BSN	49664979	1.000000	0.71417	0.989000	0.46669	0.943000	0.58893	7.798000	0.85924	2.413000	0.81919	0.561000	0.74099	CCC		0.647	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		15	23	0	0	0	1	0	15	23				
LOC101243545	101243545	broad.mit.edu	37	3	161146872	161146873	+	lincRNA	DEL	AT	AT	-	rs139058677		TCGA-EL-A4K4-01A-11D-A257-08	TCGA-EL-A4K4-11A-21D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d4113a-f9a3-4581-a160-6074c4ef4dfe	4a0d57bd-9de2-4474-b547-f24b85e050d1	g.chr3:161146872_161146873delAT	ENST00000473595.1	+	0	1231				RP11-3P17.5_ENST00000602890.1_lincRNA	NR_102265.1																						TGGTGAAAAGATATATATATAT	0.342																																						ENST00000473595.1																			0																																																			0							g.chr3:161146872_161146873delAT																													3.37:g.161146882_161146883delAT								NR_102265.1						0	1231	+									RNA	DEL	ENST00000473595.1	37																																																																																						0.342	RP11-3P17.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000353185.1			4	9						4	9	---	---	---	---
LOC101929066	101929066	broad.mit.edu	37	8	17946060	17946060	+	RNA	DEL	T	T	-			TCGA-EL-A4K4-01A-11D-A257-08	TCGA-EL-A4K4-11A-21D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d4113a-f9a3-4581-a160-6074c4ef4dfe	4a0d57bd-9de2-4474-b547-f24b85e050d1	g.chr8:17946060delT	ENST00000505114.2	+	0	902				CTD-2547L16.1_ENST00000517798.1_RNA|CTD-2547L16.1_ENST00000499554.2_RNA|CTD-2547L16.1_ENST00000521775.1_RNA|CTD-2547L16.1_ENST00000517747.1_RNA																							GTGAACACTCttttttttttt	0.438																																						ENST00000499554.2																			0																																																			0							g.chr8:17946060delT																													8.37:g.17946060delT						CTD-2547L16.1_ENST00000521775.1_RNA								0	483	+									RNA	DEL	ENST00000505114.2	37																																																																																						0.438	CTD-2547L16.1-003	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000375014.1			3	5						3	5	---	---	---	---
PNLIPRP2	5408	broad.mit.edu	37	10	118396277	118396277	+	RNA	DEL	G	G	-	rs199682553|rs112820043	byFrequency	TCGA-EL-A4K4-01A-11D-A257-08	TCGA-EL-A4K4-11A-21D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d4113a-f9a3-4581-a160-6074c4ef4dfe	4a0d57bd-9de2-4474-b547-f24b85e050d1	g.chr10:118396277delG	ENST00000298771.7	+	0	961				PNLIPRP2_ENST00000537242.1_RNA|PNLIPRP2_ENST00000433618.4_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GACAAATTATGGTTTTTTTTT	0.423													G|GG|G|insertion	318	0.0634984	0.0575	0.0562	5008	,	,		21368	0.0754		0.0477	False		,,,				2504	0.0808					ENST00000537242.1																			0				endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16								pancreatic lipase-related protein 2				1549,2079		408,733,673	95.0	86.0	89.0			-3.9	0.0	10	dbSNP_134	88	3867,3989		1053,1761,1114	no	intron	PNLIPRP2	NM_005396.4		1461,2494,1787	A1A1,A1R,RR		49.2235,42.6957,47.1613			118396277	5416,6068	1879	4103	5982			5408				galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity	g.chr10:118396277delG	M93284		10q26.12	2014-03-14				ENSG00000266200	3.1.1.3		9157	protein-coding gene	gene with protein product		604423				1379598	Standard	NM_005396		Approved	PLRP2	uc001lcq.3	P54317			10.37:g.118396277delG						PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA		NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN		all cancers(201;0.015)	0	962	+								A8K627|Q6IB55	RNA	DEL	ENST00000298771.7	37																																																																																						0.423	PNLIPRP2-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000050546.6	NM_005396		2	4						2	4	---	---	---	---
HERC2P3	283755	broad.mit.edu	37	15	20644940	20644941	+	RNA	INS	-	-	A			TCGA-EL-A4K4-01A-11D-A257-08	TCGA-EL-A4K4-11A-21D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d4113a-f9a3-4581-a160-6074c4ef4dfe	4a0d57bd-9de2-4474-b547-f24b85e050d1	g.chr15:20644940_20644941insA	ENST00000428453.1	-	0	3039							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TGACAAGCATTAAAAAAAATCT	0.401																																						ENST00000428453.1																			0				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35																																														0							g.chr15:20644940_20644941insA	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20644948_20644948dupA														0	3039	-									RNA	INS	ENST00000428453.1	37																																																																																						0.401	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		2	4						2	4	---	---	---	---
LACTB	114294	broad.mit.edu	37	15	63414116	63414116	+	Frame_Shift_Del	DEL	G	G	-	rs34925488	byFrequency	TCGA-EL-A4K4-01A-11D-A257-08	TCGA-EL-A4K4-11A-21D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d4113a-f9a3-4581-a160-6074c4ef4dfe	4a0d57bd-9de2-4474-b547-f24b85e050d1	g.chr15:63414116delG	ENST00000261893.4	+	1	118	c.46delG	c.(46-48)gggfs	p.G17fs	LACTB_ENST00000413507.2_Frame_Shift_Del_p.G17fs	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	17						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						TGCCGCCCCCGGGGGCTTGGC	0.751																																					Melanoma(85;443 1381 6215 27308 35583)	ENST00000413507.2																			0				NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						c.(46-48)ggfs		lactamase, beta							4.0	5.0	5.0					15																	63414116		1367	2959	4326	SO:0001589	frameshift_variant	114294					mitochondrion	hydrolase activity	g.chr15:63414116delG	AK027808	CCDS10182.1, CCDS45275.1	15q22.1	2012-11-14	2001-12-12	2001-12-14	ENSG00000103642	ENSG00000103642		"""Mitochondrial ribosomal proteins / large subunits"""	16468	protein-coding gene	gene with protein product		608440	"""mitochondrial ribosomal protein L56"""	MRPL56		11707067	Standard	NM_032857		Approved	FLJ14902	uc002alw.3	P83111	OTTHUMG00000132807	ENST00000261893.4:c.46delG	15.37:g.63414116delG	ENSP00000261893:p.Gly17fs					LACTB_ENST00000261893.4_Frame_Shift_Del_p.G17fs	p.G17fs	NM_171846.2	NP_741982.1	P83111	LACTB_HUMAN			1	85	+			17					P83096	Frame_Shift_Del	DEL	ENST00000261893.4	37	c.46delG	CCDS10182.1																																																																																				0.751	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256224.1	NM_032857		2	4						2	4	---	---	---	---
RPL3L	6123	broad.mit.edu	37	16	1993132	1993132	+	IGR	DEL	C	C	-			TCGA-EL-A4K4-01A-11D-A257-08	TCGA-EL-A4K4-11A-21D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d4113a-f9a3-4581-a160-6074c4ef4dfe	4a0d57bd-9de2-4474-b547-f24b85e050d1	g.chr16:1993132delC	ENST00000268661.7	-	0	2182				MSRB1_ENST00000399753.2_Frame_Shift_Del_p.G9fs|MSRB1_ENST00000489198.1_5'Flank|MSRB1_ENST00000564908.1_Frame_Shift_Del_p.G9fs|MSRB1_ENST00000361871.3_Frame_Shift_Del_p.G9fs	NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|ribosome (GO:0005840)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						GAAAACCTCGCCCCCGAAGAA	0.697																																						ENST00000361871.3																			0											c.(25-27)gcfs		methionine sulfoxide reductase B1	L-Methionine(DB00134)						13.0	17.0	16.0					16																	1993132		1934	4092	6026	SO:0001628	intergenic_variant	51734				protein repair	cytoplasm|nucleus	peptide-methionine-(S)-S-oxide reductase activity|zinc ion binding	g.chr16:1993132delC	U65581	CCDS10450.1	16p13.3	2008-02-05			ENSG00000140986	ENSG00000140986		"""L ribosomal proteins"""	10351	protein-coding gene	gene with protein product						8921388	Standard	NM_005061		Approved		uc002cnh.3	Q92901	OTTHUMG00000128685		16.37:g.1993132delC						MSRB1_ENST00000399753.2_Frame_Shift_Del_p.G9fs|MSRB1_ENST00000564908.1_Frame_Shift_Del_p.G9fs	p.G9fs	NM_016332.2	NP_057416.1	Q9NZV6	MSRB1_HUMAN			1	195	-			9						Frame_Shift_Del	DEL	ENST00000268661.7	37	c.26delG	CCDS10450.1																																																																																				0.697	RPL3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250582.2	NM_005061		2	4						2	4	---	---	---	---
CTD-2369P2.5	0	broad.mit.edu	37	19	10377497	10377498	+	RNA	INS	-	-	T	rs554336674		TCGA-EL-A4K4-01A-11D-A257-08	TCGA-EL-A4K4-11A-21D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d4113a-f9a3-4581-a160-6074c4ef4dfe	4a0d57bd-9de2-4474-b547-f24b85e050d1	g.chr19:10377497_10377498insT	ENST00000592893.1	-	0	141																											TTCCATAGCCCTTTTTTTTTCC	0.426																																						ENST00000592893.1																			0																																																			0							g.chr19:10377497_10377498insT																													19.37:g.10377506_10377506dupT														0	141	-									RNA	INS	ENST00000592893.1	37																																																																																						0.426	CTD-2369P2.5-001	KNOWN	basic	antisense	antisense	OTTHUMT00000451205.1			2	4						2	4	---	---	---	---
