#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
CROCCP2	84809	broad.mit.edu	37	1	16958833	16958833	+	lincRNA	SNP	T	T	A	rs28687450	byFrequency	TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr1:16958833T>A	ENST00000412962.1	-	0	74							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											TCTGCTTCTGTAGACGCTTCA	0.587																																						ENST00000412962.1																			0																																																			0							g.chr1:16958833T>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16958833T>A														0	74	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.587	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		3	41	0	0	0	0.000248	0	3	41				
PWWP2B	170394	broad.mit.edu	37	10	134218293	134218293	+	Missense_Mutation	SNP	A	A	C			TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr10:134218293A>C	ENST00000305233.5	+	2	348	c.289A>C	c.(289-291)Acc>Ccc	p.T97P	PWWP2B_ENST00000368609.4_Missense_Mutation_p.T97P	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	97	Pro-rich.									central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CCCCGAGACCACCCGCCCCGA	0.756																																						ENST00000305233.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						c.(289-291)Acc>Ccc		PWWP domain containing 2B							8.0	10.0	9.0					10																	134218293		2012	4035	6047	SO:0001583	missense	170394							g.chr10:134218293A>C	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"""PWWP domain containing 2"""	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.289A>C	10.37:g.134218293A>C	ENSP00000306324:p.Thr97Pro					PWWP2B_ENST00000368609.4_Missense_Mutation_p.T97P	p.T97P	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)	2	348	+		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)	97			Pro-rich.		A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Missense_Mutation	SNP	ENST00000305233.5	37	c.289A>C	CCDS7667.2	.	.	.	.	.	.	.	.	.	.	A	5.486	0.274753	0.10403	.	.	ENSG00000171813	ENST00000305233;ENST00000368609	T;T	0.56275	0.47;1.46	2.52	-4.44	0.03557	.	0.656446	0.13135	U	0.411121	T	0.27027	0.0662	N	0.19112	0.55	0.09310	N	1	B	0.27192	0.171	B	0.18263	0.021	T	0.06899	-1.0801	10	0.37606	T	0.19	2.6811	4.8705	0.13629	0.4748:0.0:0.3827:0.1425	.	97	Q6NUJ5	PWP2B_HUMAN	P	97	ENSP00000306324:T97P;ENSP00000357598:T97P	ENSP00000306324:T97P	T	+	1	0	PWWP2B	134068283	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.981000	0.00662	-0.950000	0.03659	-1.114000	0.02060	ACC		0.756	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499		6	9	0	0	0	0.001984	0	6	9				
SNHG14	104472715	broad.mit.edu	37	15	25457124	25457124	+	RNA	SNP	T	T	A			TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr15:25457124T>A	ENST00000424208.1	+	0	2516				SNORD115-24_ENST00000363528.1_RNA|SNHG14_ENST00000424333.1_RNA|SNORD115-22_ENST00000364456.1_RNA|SNORD115-23_ENST00000364461.1_RNA|SNHG14_ENST00000450809.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		GAAAGGTATCTGGAGGAGGCC	0.592																																						ENST00000424208.1																			0																																																			0							g.chr15:25457124T>A			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25457124T>A						SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA		NR_003305.1						0	2516	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.592	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			13	36	0	0	0	0.001368	0	13	36				
CACHD1	57685	broad.mit.edu	37	1	65119491	65119491	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr1:65119491C>G	ENST00000371073.2	+	11	1591	c.1591C>G	c.(1591-1593)Ccc>Gcc	p.P531A	CACHD1_ENST00000290039.5_Missense_Mutation_p.P480A|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	531	Cache 1.				calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ATTGTCAGAGCCCCCACTTCA	0.353																																						ENST00000371073.2																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(1591-1593)Ccc>Gcc		cache domain containing 1							185.0	179.0	181.0					1																	65119491		2203	4300	6503	SO:0001583	missense	57685				calcium ion transport	integral to membrane		g.chr1:65119491C>G	AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.1591C>G	1.37:g.65119491C>G	ENSP00000360113:p.Pro531Ala					CACHD1_ENST00000290039.5_Missense_Mutation_p.P480A|CACHD1_ENST00000495994.1_3'UTR	p.P531A			Q5VU97	CAHD1_HUMAN			11	1591	+			531			Cache 1.		Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37	c.1591C>G		.	.	.	.	.	.	.	.	.	.	C	9.711	1.157144	0.21454	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.21734	1.99;2.0	5.45	4.54	0.55810	.	0.048889	0.85682	D	0.000000	T	0.04363	0.0120	N	0.08118	0	0.58432	D	0.999999	B	0.06786	0.001	B	0.08055	0.003	T	0.22382	-1.0218	10	0.12103	T	0.63	-25.0719	16.5409	0.84384	0.0:0.8695:0.1305:0.0	.	531	Q5VU97	CAHD1_HUMAN	A	531;480	ENSP00000360113:P531A;ENSP00000290039:P480A	ENSP00000290039:P480A	P	+	1	0	CACHD1	64892079	1.000000	0.71417	0.997000	0.53966	0.717000	0.41224	4.365000	0.59486	1.534000	0.49203	-0.156000	0.13503	CCC		0.353	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		40	101	0	0	0	0.002522	0	40	101				
VWF	7450	broad.mit.edu	37	12	6120922	6120922	+	Silent	SNP	G	G	A			TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr12:6120922G>A	ENST00000261405.5	-	34	5957	c.5703C>T	c.(5701-5703)acC>acT	p.T1901T		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1901					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGCAAGTCACGGTGTGGCACT	0.577																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(5701-5703)acC>acT		von Willebrand factor	Antihemophilic Factor(DB00025)																																			SO:0001819	synonymous_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6120922G>A		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.5703C>T	12.37:g.6120922G>A							p.T1901T	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			34	5957	-			1901					Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	c.5703C>T	CCDS8539.1																																																																																				0.577	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		3	39	0	0	0	0.000248	0	3	39				
NUDT10	170685	broad.mit.edu	37	X	51076024	51076024	+	Silent	SNP	G	G	A	rs143435240		TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chrX:51076024G>A	ENST00000376006.3	+	2	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_ENST00000356450.2_Silent_p.E69E	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	234					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)	p.E69E(8)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657																																					NSCLC(90;1817 2035 37909 38249)	ENST00000376006.3																			8	Substitution - coding silent(8)	p.E69E(8)	endometrium(5)|cervix(1)|prostate(1)|lung(1)	cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16						c.(205-207)gaG>gaA		nudix (nucleoside diphosphate linked moiety X)-type motif 10							52.0	62.0	59.0					X																	51076024		2203	4300	6503	SO:0001819	synonymous_variant	170685					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51076024G>A	AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"""Nudix motif containing"""	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.207G>A	X.37:g.51076024G>A						NUDT10_ENST00000356450.2_Silent_p.E69E	p.E69E	NM_153183.2	NP_694853.1	Q8NFP7	NUD10_HUMAN			2	427	+	Ovarian(276;0.236)		69			Nudix hydrolase.		Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000376006.3	37	c.207G>A	CCDS35278.1																																																																																				0.657	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056578.1	NM_153183		3	47	0	0	0	0.004672	0	3	47				
IGSF9B	22997	broad.mit.edu	37	11	133790942	133790942	+	Missense_Mutation	SNP	T	T	C			TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr11:133790942T>C	ENST00000321016.8	-	18	2908	c.2678A>G	c.(2677-2679)gAc>gGc	p.D893G	IGSF9B_ENST00000533871.2_Missense_Mutation_p.D893G			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	893					homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GTTCTCCTCGTCCGACTGGCG	0.647																																						ENST00000321016.8																			0				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(2677-2679)gAc>gGc		immunoglobulin superfamily, member 9B							74.0	89.0	84.0					11																	133790942		2119	4207	6326	SO:0001583	missense	22997					integral to membrane|plasma membrane		g.chr11:133790942T>C	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.2678A>G	11.37:g.133790942T>C	ENSP00000317980:p.Asp893Gly					IGSF9B_ENST00000533871.2_Missense_Mutation_p.D893G	p.D893G			Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	18	2908	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	893					G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.2678A>G		.	.	.	.	.	.	.	.	.	.	T	20.7	4.030454	0.75504	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.71934	-0.29;-0.61	4.62	4.62	0.57501	.	0.000000	0.46145	D	0.000303	T	0.79263	0.4416	L	0.51422	1.61	0.53688	D	0.999971	D	0.63880	0.993	D	0.72338	0.977	T	0.80269	-0.1453	10	0.52906	T	0.07	.	13.8645	0.63581	0.0:0.0:0.0:1.0	.	893	Q9UPX0	TUTLB_HUMAN	G	893;735	ENSP00000317980:D893G;ENSP00000436552:D735G	ENSP00000317980:D893G	D	-	2	0	IGSF9B	133296152	1.000000	0.71417	0.795000	0.32087	0.994000	0.84299	7.468000	0.80943	1.943000	0.56356	0.459000	0.35465	GAC		0.647	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		25	50	0	0	0	0.004656	0	25	50				
DCANP1	140947	broad.mit.edu	37	5	134785451	134785451	+	5'Flank	SNP	A	A	G			TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr5:134785451A>G	ENST00000503143.2	-	0	0				TIFAB_ENST00000537858.1_Missense_Mutation_p.L60P|CTB-138E5.1_ENST00000510230.1_RNA	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN								nucleus (GO:0005634)				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTAGGGCTCCAGGGACAGGTG	0.667																																						ENST00000537858.1																			0				breast(1)|endometrium(1)|liver(1)|lung(5)	8						c.(178-180)cTg>cCg		TRAF-interacting protein with forkhead-associated domain, family member B							41.0	47.0	45.0					5																	134785451		2101	4230	6331	SO:0001631	upstream_gene_variant	497189							g.chr5:134785451A>G																													5.37:g.134785451A>G	Exception_encountered						p.L60P	NM_001099221.1	NP_001092691.1	Q6ZNK6	TIFAB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	379	-			60			FHA.			Missense_Mutation	SNP	ENST00000503143.2	37	c.179T>C	CCDS4186.1	.	.	.	.	.	.	.	.	.	.	A	18.97	3.736423	0.69189	.	.	ENSG00000255833	ENST00000537858	D	0.90385	-2.66	4.91	4.91	0.64330	Forkhead-associated (FHA) domain (2);SMAD/FHA domain (1);	0.237373	0.27080	U	0.021036	D	0.93923	0.8055	M	0.68952	2.095	0.54753	D	0.999986	D	0.89917	1.0	D	0.91635	0.999	D	0.94189	0.7439	10	0.87932	D	0	.	11.2171	0.48833	1.0:0.0:0.0:0.0	.	60	Q6ZNK6	TIFAB_HUMAN	P	60	ENSP00000440509:L60P	ENSP00000440509:L60P	L	-	2	0	TIFAB	134813350	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.126000	0.42026	1.964000	0.57103	0.460000	0.39030	CTG		0.667	C5orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372531.1			3	70	0	0	0	0.004672	0	3	70				
NDUFV2	4729	broad.mit.edu	37	18	9126840	9126840	+	Silent	SNP	A	A	G			TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr18:9126840A>G	ENST00000318388.6	+	7	705	c.591A>G	c.(589-591)acA>acG	p.T197T	RP11-143J12.2_ENST00000583081.1_RNA|NDUFV2_ENST00000400033.1_Silent_p.T200T|RP11-143J12.2_ENST00000582375.1_RNA|NDUFV2_ENST00000465096.1_3'UTR|RP11-21J18.1_ENST00000579126.1_RNA	NM_021074.4	NP_066552.2	P19404	NDUV2_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	197					cardiac muscle tissue development (GO:0048738)|cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|nervous system development (GO:0007399)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|lung(4)|ovary(1)|stomach(1)	7						AGGATTTGACAGCTAAGGATA	0.333																																						ENST00000400033.1																			0				breast(1)|lung(4)|ovary(1)|stomach(1)	7						c.(598-600)acA>acG		NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	NADH(DB00157)						98.0	116.0	110.0					18																	9126840		2203	4299	6502	SO:0001819	synonymous_variant	4729				cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport	mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity	g.chr18:9126840A>G	X84421	CCDS11842.1	18p11.22	2011-07-04	2002-08-29		ENSG00000178127	ENSG00000178127	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7717	protein-coding gene	gene with protein product	"""complex I 24kDa subunit"", ""NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial"""	600532	"""NADH dehydrogenase (ubiquinone) flavoprotein 2 (24kD)"""			9763677, 7607668	Standard	NM_021074		Approved	CI-24k	uc002knu.3	P19404	OTTHUMG00000131593	ENST00000318388.6:c.591A>G	18.37:g.9126840A>G						RP11-143J12.2_ENST00000583081.1_RNA|NDUFV2_ENST00000465096.1_3'UTR|NDUFV2_ENST00000318388.6_Silent_p.T197T|RP11-143J12.2_ENST00000582375.1_RNA|RP11-21J18.1_ENST00000579126.1_RNA	p.T200T			P19404	NDUV2_HUMAN			8	717	+			197					Q9BV41	Silent	SNP	ENST00000318388.6	37	c.600A>G	CCDS11842.1																																																																																				0.333	NDUFV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254475.2	NM_021074		7	145	0	0	0	0.003080	0	7	145				
UBR4	23352	broad.mit.edu	37	1	19473374	19473374	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr1:19473374G>A	ENST00000375254.3	-	52	7777	c.7750C>T	c.(7750-7752)Cgc>Tgc	p.R2584C	UBR4_ENST00000375217.2_Missense_Mutation_p.R2584C|UBR4_ENST00000375226.2_Missense_Mutation_p.R2595C|UBR4_ENST00000375267.2_Missense_Mutation_p.R2584C	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2584					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTGTTGGGGCGCATGATGGCA	0.532																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(7750-7752)Cgc>Tgc		ubiquitin protein ligase E3 component n-recognin 4							230.0	214.0	220.0					1																	19473374		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19473374G>A	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.7750C>T	1.37:g.19473374G>A	ENSP00000364403:p.Arg2584Cys					UBR4_ENST00000375217.2_Missense_Mutation_p.R2584C|UBR4_ENST00000375254.3_Missense_Mutation_p.R2584C|UBR4_ENST00000375226.2_Missense_Mutation_p.R2595C	p.R2584C			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	52	7753	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	2584					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.7750C>T	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942569	0.73672	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040	T;T;T;T	0.39787	1.26;1.25;1.39;1.06	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.61451	0.2348	L	0.58810	1.83	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.61783	-0.6992	10	0.87932	D	0	.	16.0062	0.80363	0.0:0.0:0.8575:0.1425	.	2584	Q5T4S7	UBR4_HUMAN	C	2584;2584;2584;2595;199;1305	ENSP00000364403:R2584C;ENSP00000364416:R2584C;ENSP00000364365:R2584C;ENSP00000364374:R2595C	ENSP00000364365:R2584C	R	-	1	0	UBR4	19345961	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.891000	0.63185	2.817000	0.96982	0.563000	0.77884	CGC		0.532	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		5	178	0	0	0	0.000602	0	5	178				
OR51G1	79324	broad.mit.edu	37	11	4945145	4945145	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr11:4945145C>T	ENST00000321961.2	-	1	492	c.425G>A	c.(424-426)tGt>tAt	p.C142Y	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	142						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTTGACAATACATGCAGGTGT	0.522																																						ENST00000321961.2																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25						c.(424-426)tGt>tAt		olfactory receptor, family 51, subfamily G, member 1							102.0	87.0	92.0					11																	4945145		2201	4298	6499	SO:0001583	missense	79324				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4945145C>T	AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"""GPCR / Class A : Olfactory receptors"""	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.425G>A	11.37:g.4945145C>T	ENSP00000322546:p.Cys142Tyr					MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.C142Y	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	492	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	142					B9EGW8|Q6IFH6	Missense_Mutation	SNP	ENST00000321961.2	37	c.425G>A	CCDS31366.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.627472	0.00115	.	.	ENSG00000176879	ENST00000321961	T	0.35789	1.29	4.2	2.24	0.28232	GPCR, rhodopsin-like superfamily (1);	0.209781	0.21819	U	0.068649	T	0.19846	0.0477	N	0.08118	0	0.09310	N	1	B	0.19583	0.037	B	0.29440	0.102	T	0.23868	-1.0176	10	0.32370	T	0.25	.	10.0396	0.42151	0.1376:0.779:0.0:0.0834	.	142	Q8NGK1	O51G1_HUMAN	Y	142	ENSP00000322546:C142Y	ENSP00000322546:C142Y	C	-	2	0	OR51G1	4901721	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.340000	0.07821	0.065000	0.16485	-1.151000	0.01829	TGT		0.522	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142345.1	NM_001005237		15	30	0	0	0	0.004007	0	15	30				
CHGB	1114	broad.mit.edu	37	20	5904106	5904106	+	Missense_Mutation	SNP	G	G	T			TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr20:5904106G>T	ENST00000378961.4	+	4	1520	c.1316G>T	c.(1315-1317)aGg>aTg	p.R439M		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	439						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GAAGAGAAAAGGTTCTTGGGT	0.547																																						ENST00000378961.4																			0				breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						c.(1315-1317)aGg>aTg		chromogranin B (secretogranin 1)							94.0	94.0	94.0					20																	5904106		2203	4300	6503	SO:0001583	missense	1114					extracellular region	hormone activity	g.chr20:5904106G>T		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.1316G>T	20.37:g.5904106G>T	ENSP00000368244:p.Arg439Met						p.R439M	NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN			4	1520	+			439					A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Missense_Mutation	SNP	ENST00000378961.4	37	c.1316G>T	CCDS13092.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.160415	0.57368	.	.	ENSG00000089199	ENST00000378961	T	0.01933	4.55	5.78	3.85	0.44370	.	0.267267	0.31847	N	0.006976	T	0.07593	0.0191	M	0.64997	1.995	0.22610	N	0.998936	D	0.76494	0.999	P	0.62649	0.905	T	0.05869	-1.0859	10	0.87932	D	0	-8.1577	7.8708	0.29565	0.2994:0.0:0.7006:0.0	.	439	P05060	SCG1_HUMAN	M	439	ENSP00000368244:R439M	ENSP00000368244:R439M	R	+	2	0	CHGB	5852106	0.082000	0.21442	0.975000	0.42487	0.484000	0.33280	0.762000	0.26503	1.442000	0.47568	0.655000	0.94253	AGG		0.547	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		31	47	1	0	7.01153e-11	0.007291	1.1596e-10	31	47				
GOSR2	9570	broad.mit.edu	37	17	45016025	45016025	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr17:45016025C>T	ENST00000393456.2	+	6	595	c.538C>T	c.(538-540)Cgg>Tgg	p.R180W	GOSR2_ENST00000576910.2_Missense_Mutation_p.R133W|GOSR2_ENST00000225567.4_Missense_Mutation_p.R180W|RP11-156P1.2_ENST00000571841.1_Missense_Mutation_p.R180W|GOSR2_ENST00000439730.2_Missense_Mutation_p.R180W	NM_004287.3	NP_004278.2	O14653	GOSR2_HUMAN	golgi SNAP receptor complex member 2	180					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transporter activity (GO:0005215)			kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1)	7			BRCA - Breast invasive adenocarcinoma(9;0.102)			CACAGTGATGCGGCTCATCGA	0.493																																						ENST00000576910.2																			0				kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1)	7						c.(397-399)Cgg>Tgg		golgi SNAP receptor complex member 2							277.0	241.0	253.0					17																	45016025		2203	4300	6503	SO:0001583	missense	9570				cellular membrane fusion|ER to Golgi vesicle-mediated transport|protein transport	Golgi membrane|integral to membrane	transporter activity	g.chr17:45016025C>T	AF007548	CCDS11507.1, CCDS42355.1, CCDS45719.1	17q21	2006-02-10				ENSG00000108433			4431	protein-coding gene	gene with protein product		604027				9349823, 10198168	Standard	XM_005257843		Approved	GS27, Bos1	uc002ikz.3	O14653		ENST00000393456.2:c.538C>T	17.37:g.45016025C>T	ENSP00000377101:p.Arg180Trp					RP11-156P1.2_ENST00000571841.1_Missense_Mutation_p.R180W|GOSR2_ENST00000439730.2_Missense_Mutation_p.R180W|GOSR2_ENST00000225567.4_Missense_Mutation_p.R180W|GOSR2_ENST00000393456.2_Missense_Mutation_p.R180W	p.R133W			O14653	GOSR2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.102)		5	473	+			180					D3DXJ5|D3DXJ6|Q8N4B8|Q96DA5|Q9BZZ4	Missense_Mutation	SNP	ENST00000393456.2	37	c.397C>T	CCDS42355.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898222	0.72639	.	.	ENSG00000108433	ENST00000225567;ENST00000393456;ENST00000439730	T;T;T	0.79352	-1.26;-1.26;-1.26	4.84	1.52	0.23074	.	0.000000	0.85682	D	0.000000	D	0.89588	0.6758	M	0.92077	3.27	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.998	D	0.90816	0.4705	10	0.87932	D	0	-8.7805	13.6926	0.62556	0.4145:0.5855:0.0:0.0	.	180;180;180	E7EQ34;O14653;O14653-2	.;GOSR2_HUMAN;.	W	180	ENSP00000225567:R180W;ENSP00000377101:R180W;ENSP00000390577:R180W	ENSP00000225567:R180W	R	+	1	2	GOSR2	42371024	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.349000	0.33998	0.262000	0.21774	0.655000	0.94253	CGG		0.493	GOSR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440438.1			6	203	0	0	0	0.003080	0	6	203				
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	C	G	rs199732634		TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr19:58385762C>G	ENST00000435989.2	-	3	1230	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	332					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S332S(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358																																						ENST00000435989.2																			2	Substitution - coding silent(2)	p.S332S(2)	kidney(2)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(994-996)tcG>tcC		zinc finger protein 814							25.0	25.0	25.0					19																	58385762		692	1589	2281	SO:0001819	synonymous_variant	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385762C>G		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.996G>C	19.37:g.58385762C>G						ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron	p.S332S	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	1230	-			332					A6NF35	Silent	SNP	ENST00000435989.2	37	c.996G>C	CCDS46212.1																																																																																				0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		6	6	0	0	0	0.001168	0	6	6				
ACOT1	641371	broad.mit.edu	37	14	74004293	74004293	+	Silent	SNP	C	C	T			TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr14:74004293C>T	ENST00000311148.4	+	1	476	c.168C>T	c.(166-168)acC>acT	p.T56T	HEATR4_ENST00000553558.1_Intron|ACOT1_ENST00000557556.1_Silent_p.T56T|HEATR4_ENST00000334988.2_Intron|HEATR4_ENST00000560393.1_Intron	NM_001037161.1	NP_001032238.1	Q86TX2	ACOT1_HUMAN	acyl-CoA thioesterase 1	56					acyl-CoA metabolic process (GO:0006637)|long-chain fatty acid metabolic process (GO:0001676)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)			endometrium(1)|large_intestine(1)|lung(2)	4				OV - Ovarian serous cystadenocarcinoma(108;1.37e-45)|BRCA - Breast invasive adenocarcinoma(234;0.0033)		GCGCCGACACCCTTGGCGAGC	0.746																																						ENST00000311148.4																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(166-168)acC>acT		acyl-CoA thioesterase 1																																				SO:0001819	synonymous_variant	641371							g.chr14:74004293C>T	DQ082754	CCDS32117.1	14q24.3	2013-09-20			ENSG00000184227	ENSG00000184227		"""Acyl CoA thioesterases"""	33128	protein-coding gene	gene with protein product		614313				16103133, 16940157	Standard	NM_001037161		Approved	ACH2, CTE-1, LACH2		Q86TX2	OTTHUMG00000171607	ENST00000311148.4:c.168C>T	14.37:g.74004293C>T						HEATR4_ENST00000560393.1_Intron|HEATR4_ENST00000334988.2_Intron|ACOT1_ENST00000557556.1_Silent_p.T56T|HEATR4_ENST00000553558.1_Intron	p.T56T	NM_001037161.1	NP_001032238.1				OV - Ovarian serous cystadenocarcinoma(108;1.37e-45)|BRCA - Breast invasive adenocarcinoma(234;0.0033)	1	476	+								A1L173|Q3I5F9	Silent	SNP	ENST00000311148.4	37	c.168C>T	CCDS32117.1																																																																																				0.746	ACOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414432.1	NM_001037161		3	10	0	0	0	0.004672	0	3	10				
BOD1L1	259282	broad.mit.edu	37	4	13601157	13601157	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr4:13601157A>G	ENST00000040738.5	-	10	7502	c.7367T>C	c.(7366-7368)cTc>cCc	p.L2456P		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2456						nucleus (GO:0005634)	DNA binding (GO:0003677)										TGCATTTATGAGGTGTAAAGT	0.468											OREG0016115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000040738.5																			0											c.(7366-7368)cTc>cCc		biorientation of chromosomes in cell division 1-like 1							164.0	147.0	153.0					4																	13601157		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13601157A>G	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.7367T>C	4.37:g.13601157A>G	ENSP00000040738:p.Leu2456Pro		OREG0016115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	688		p.L2456P	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	7502	-			2456					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.7367T>C	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	A	13.05	2.120234	0.37436	.	.	ENSG00000038219	ENST00000040738	T	0.09350	2.99	4.17	-0.642	0.11486	.	0.433636	0.16546	N	0.209707	T	0.06781	0.0173	L	0.27053	0.805	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.30937	-0.9961	10	0.40728	T	0.16	.	8.0002	0.30293	0.597:0.0:0.403:0.0	.	2456	Q8NFC6	BOD1L_HUMAN	P	2456	ENSP00000040738:L2456P	ENSP00000040738:L2456P	L	-	2	0	BOD1L	13210255	0.000000	0.05858	0.003000	0.11579	0.018000	0.09664	0.222000	0.17699	-0.013000	0.14199	0.454000	0.30748	CTC		0.468	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		3	78	0	0	0	0.004672	0	3	78				
TACR3	6870	broad.mit.edu	37	4	104640780	104640780	+	Missense_Mutation	SNP	C	C	A			TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr4:104640780C>A	ENST00000304883.2	-	1	193	c.53G>T	c.(52-54)gGt>gTt	p.G18V		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	18					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GGCGTCTGCACCCACGCCTCC	0.687																																						ENST00000304883.2																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(52-54)gGt>gTt		tachykinin receptor 3							37.0	43.0	41.0					4																	104640780		2202	4297	6499	SO:0001583	missense	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104640780C>A	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"""GPCR / Class A : Tachykinin receptors"""	11528	protein-coding gene	gene with protein product	"""neurokinin beta receptor"""	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.53G>T	4.37:g.104640780C>A	ENSP00000303325:p.Gly18Val						p.G18V	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	1	193	-		Hepatocellular(203;0.217)	18					Q0P510	Missense_Mutation	SNP	ENST00000304883.2	37	c.53G>T	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.034992	0.35893	.	.	ENSG00000169836	ENST00000304883	T	0.64803	-0.12	3.79	0.907	0.19321	.	2.348000	0.02229	N	0.064766	T	0.48732	0.1516	L	0.29908	0.895	0.09310	N	0.999993	B	0.24186	0.099	B	0.14023	0.01	T	0.41466	-0.9507	10	0.54805	T	0.06	.	3.8531	0.08963	0.1615:0.5794:0.1583:0.1008	.	18	P29371	NK3R_HUMAN	V	18	ENSP00000303325:G18V	ENSP00000303325:G18V	G	-	2	0	TACR3	104860229	0.000000	0.05858	0.002000	0.10522	0.154000	0.21943	0.418000	0.21230	0.790000	0.33803	0.313000	0.20887	GGT		0.687	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		13	21	1	0	1.05317e-09	0.002450	1.67727e-09	13	21				
SLAMF8	56833	broad.mit.edu	37	1	159799720	159799720	+	Silent	SNP	G	G	T			TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr1:159799720G>T	ENST00000289707.5	+	2	254	c.105G>T	c.(103-105)ctG>ctT	p.L35L	SLAMF8_ENST00000368104.4_Intron	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	35					cellular response to drug (GO:0035690)|defense response to bacterium (GO:0042742)|phagosome acidification (GO:0090383)|regulation of kinase activity (GO:0043549)|regulation of NAD(P)H oxidase activity (GO:0033860)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					CGGTGCTGCTGGTGGCAGCGC	0.612																																						ENST00000289707.5																			0				endometrium(2)|large_intestine(4)|lung(6)	12						c.(103-105)ctG>ctT		SLAM family member 8							102.0	114.0	110.0					1																	159799720		2203	4300	6503	SO:0001819	synonymous_variant	56833					integral to membrane		g.chr1:159799720G>T	AF146761	CCDS1188.1	1q23.1	2013-01-11			ENSG00000158714	ENSG00000158714		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21391	protein-coding gene	gene with protein product		606620				11313408	Standard	NM_020125		Approved	BLAME, SBBI42, CD353	uc001fue.4	Q9P0V8	OTTHUMG00000035433	ENST00000289707.5:c.105G>T	1.37:g.159799720G>T						SLAMF8_ENST00000368104.4_Intron	p.L35L	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN			2	254	+	all_hematologic(112;0.0597)		35					Q32MC6|Q5VU15	Silent	SNP	ENST00000289707.5	37	c.105G>T	CCDS1188.1																																																																																				0.612	SLAMF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085983.1	NM_020125		42	95	1	0	5.48756e-27	0.002852	9.43861e-27	42	95				
ZNF724P	440519	broad.mit.edu	37	19	23406086	23406086	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr19:23406086G>A	ENST00000418100.1	-	4	1078	c.961C>T	c.(961-963)Caa>Taa	p.Q321*				A8MTY0	ZN724_HUMAN	zinc finger protein 724, pseudogene	321					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						TTCGAGGATTGGTTAAAAGCT	0.378																																						ENST00000418100.1																			0				endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						c.(961-963)Caa>Taa																																						SO:0001587	stop_gained	0							g.chr19:23406086G>A			19p12	2014-02-14	2010-08-03		ENSG00000196081	ENSG00000196081			32460	pseudogene	pseudogene			"""zinc finger protein 724 pseudogene"", ""zinc finger protein 724 (pseudogene)"""				Standard	NR_045525		Approved		uc021uru.1	A8MTY0	OTTHUMG00000183231	ENST00000418100.1:c.961C>T	19.37:g.23406086G>A	ENSP00000413411:p.Gln321*						p.Q321*							4	1078	-									Nonsense_Mutation	SNP	ENST00000418100.1	37	c.961C>T		.	.	.	.	.	.	.	.	.	.	G	13.73	2.324534	0.41197	.	.	ENSG00000196081	ENST00000418100	.	.	.	1.07	-1.64	0.08318	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	6.8088	0.23792	0.0:0.0:0.7228:0.2772	.	.	.	.	X	321	.	ENSP00000413411:Q321X	Q	-	1	0	ZNF724P	23197926	0.000000	0.05858	0.005000	0.12908	0.004000	0.04260	-0.789000	0.04609	-0.521000	0.06426	-0.534000	0.04291	CAA		0.378	ZNF724P-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000465743.1			4	9	0	0	0	0.000248	0	4	9				
F8	2157	broad.mit.edu	37	X	154250785	154250785	+	Nonsense_Mutation	SNP	G	G	A	rs387906432		TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chrX:154250785G>A	ENST00000360256.4	-	1	243	c.43C>T	c.(43-45)Cga>Tga	p.R15*		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	15					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AAGCAGAATCGCAAAAGGCAC	0.443																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	GRCh37	CM900085	F8	M		c.(43-45)Cga>Tga		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						178.0	150.0	160.0					X																	154250785		2203	4300	6503	SO:0001587	stop_gained	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154250785G>A	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.43C>T	X.37:g.154250785G>A	ENSP00000353393:p.Arg15*						p.R15*	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			1	243	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		15					Q14286|Q5HY69	Nonsense_Mutation	SNP	ENST00000360256.4	37	c.43C>T	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768332	0.90020	.	.	ENSG00000185010	ENST00000360256	.	.	.	5.18	-1.39	0.08997	.	3.009880	0.00702	N	0.000789	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	2.6923	13.2078	0.59807	0.0:0.0:0.2232:0.7768	.	.	.	.	X	15	.	ENSP00000353393:R15X	R	-	1	2	F8	153903979	0.001000	0.12720	0.000000	0.03702	0.359000	0.29487	0.445000	0.21677	-0.140000	0.11394	0.529000	0.55759	CGA		0.443	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			4	112	0	0	0	0.000248	0	4	112				
ERICH6	131831	broad.mit.edu	37	3	150398571	150398571	+	Silent	SNP	T	T	C			TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr3:150398571T>C	ENST00000295910.6	-	8	1081	c.1029A>G	c.(1027-1029)aaA>aaG	p.K343K	FAM194A_ENST00000491361.1_Silent_p.K197K	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TTTGCAGGGCTTTTTCTTTTG	0.413																																						ENST00000295910.6																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1027-1029)aaA>aaG		family with sequence similarity 194, member A							149.0	146.0	147.0					3																	150398571		2203	4300	6503	SO:0001819	synonymous_variant	131831							g.chr3:150398571T>C																												ENST00000295910.6:c.1029A>G	3.37:g.150398571T>C						FAM194A_ENST00000491361.1_Silent_p.K197K	p.K343K	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN			8	1081	-			343						Silent	SNP	ENST00000295910.6	37	c.1029A>G	CCDS3151.2																																																																																				0.413	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1			3	87	0	0	0	0.004672	0	3	87				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	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		22	36	0	0	0	0.002299	0	22	36				
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C	rs371810308	byFrequency	TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr18:14513675T>C	ENST00000358970.5	-	10	1518	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	507								p.K507E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284													.|||	3	0.000599042	0.0	0.0	5008	,	,		16953	0.003		0.0	False		,,,				2504	0.0					ENST00000358970.5																			2	Substitution - Missense(2)	p.K507E(2)	urinary_tract(1)|prostate(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1519-1521)Aaa>Gaa		POTE ankyrin domain family, member C							164.0	115.0	130.0					18																	14513675		692	1590	2282	SO:0001583	missense	388468							g.chr18:14513675T>C	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1519A>G	18.37:g.14513675T>C	ENSP00000351856:p.Lys507Glu						p.K507E	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1518	-			507						Missense_Mutation	SNP	ENST00000358970.5	37	c.1519A>G	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	t	0.001	-3.812128	0.00004	.	.	ENSG00000183206	ENST00000358970	T	0.32753	1.44	1.53	-3.07	0.05363	.	.	.	.	.	T	0.10165	0.0249	N	0.11427	0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31752	-0.9932	9	0.02654	T	1	.	3.0168	0.06063	0.0:0.3604:0.2511:0.3885	.	507	B2RU33	POTEC_HUMAN	E	507	ENSP00000351856:K507E	ENSP00000351856:K507E	K	-	1	0	POTEC	14503675	0.024000	0.19004	0.012000	0.15200	0.024000	0.10985	-0.021000	0.12504	-1.054000	0.03214	-3.018000	0.00074	AAA		0.284	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		3	78	0	0	0	0.001168	0	3	78				
SREK1IP1	285672	broad.mit.edu	37	5	64023941	64023941	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr5:64023941delT	ENST00000513458.4	-	4	438	c.271delA	c.(271-273)aggfs	p.R91fs		NM_173829.3	NP_776190.1	Q8N9Q2	SR1IP_HUMAN	SREK1-interacting protein 1	91	Lys-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)		nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6						TACCttttccttttttttttc	0.264																																						ENST00000513458.4																			0				breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6						c.(271-273)ggfs		SREK1-interacting protein 1							16.0	20.0	19.0					5																	64023941		2130	4171	6301	SO:0001589	frameshift_variant	285672				mRNA processing|RNA splicing		nucleic acid binding|zinc ion binding	g.chr5:64023941delT	AK094073	CCDS34171.1	5q12.3	2010-09-20	2010-09-20	2010-09-20	ENSG00000153006	ENSG00000153006			26716	protein-coding gene	gene with protein product	"""p18 splicing regulatory protein"""		"""SFRS12-interacting protein 1"""	SFRS12IP1		15456940	Standard	NM_173829		Approved	FLJ36754, P18SRP	uc003jtk.3	Q8N9Q2	OTTHUMG00000162291	ENST00000513458.4:c.271delA	5.37:g.64023941delT	ENSP00000427401:p.Arg91fs						p.R91fs	NM_173829.3	NP_776190.1	Q8N9Q2	SR1IP_HUMAN			4	438	-			91			Lys-rich.		Q32NC8	Frame_Shift_Del	DEL	ENST00000513458.4	37	c.271delA	CCDS34171.1																																																																																				0.264	SREK1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368457.4	NM_173829		3	5						3	5	---	---	---	---
RRP36	88745	broad.mit.edu	37	6	42989414	42989419	+	In_Frame_Del	DEL	GCCGGG	GCCGGG	-	rs200886831|rs551189349|rs199544375		TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr6:42989414_42989419delGCCGGG	ENST00000244496.5	+	1	32_37	c.22_27delGCCGGG	c.(22-27)gccgggdel	p.AG14del		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	14					ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A8_G9delAG(2)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						TAACTAccgcgccggggccggggccg	0.777																																						ENST00000244496.5																			2	Deletion - In frame(2)	p.A8_G9delAG(2)	prostate(1)|central_nervous_system(1)	NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						c.(22-27)del		ribosomal RNA processing 36 homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	88745				ribosomal small subunit biogenesis|rRNA processing	nucleolus		g.chr6:42989414_42989419delGCCGGG	BC011933	CCDS34453.1	6p21.1	2010-07-06	2010-07-06	2010-07-06	ENSG00000124541	ENSG00000124541			21374	protein-coding gene	gene with protein product		613475	"""chromosome 6 open reading frame 153"""	C6orf153		20038530	Standard	NM_033112		Approved	dJ20C7.4	uc003otp.1	Q96EU6	OTTHUMG00000014715	ENST00000244496.5:c.22_27delGCCGGG	6.37:g.42989420_42989425delGCCGGG	ENSP00000244496:p.Ala14_Gly15del						p.AG14del	NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN			1	32_37	+			14					Q9BRF6|Q9P0C8	In_Frame_Del	DEL	ENST00000244496.5	37	c.22_27delGCCGGG	CCDS34453.1																																																																																				0.777	RRP36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040572.1	NM_033112		3	5						3	5	---	---	---	---
SLC22A3	6581	broad.mit.edu	37	6	160868784	160868786	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr6:160868784_160868786delTGC	ENST00000275300.2	+	10	1696_1698	c.1544_1546delTGC	c.(1543-1548)atgctt>att	p.515_516ML>I	SLC22A3_ENST00000392145.1_In_Frame_Del_p.516_517ML>I	NM_021977.3	NP_068812.1	O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	515					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|histamine uptake (GO:0051615)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|regulation of appetite (GO:0032098)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine transmembrane transporter activity (GO:0005329)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|toxin transporter activity (GO:0019534)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	Adefovir Dipivoxil(DB00718)|Amphetamine(DB00182)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Colchicine(DB01394)|Desipramine(DB01151)|Dopamine(DB00988)|Estradiol(DB00783)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imipramine(DB00458)|Irinotecan(DB00762)|Lamivudine(DB00709)|Melphalan(DB01042)|Metformin(DB00331)|Methamphetamine(DB01577)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Phenoxybenzamine(DB00925)|Prazosin(DB00457)|Procainamide(DB01035)|Progesterone(DB00396)|Testosterone(DB00624)|Vincristine(DB00541)	GGCCTTGTGATGCTTTTGCCTGA	0.498																																						ENST00000392145.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(1546-1551)att>a		solute carrier family 22 (organic cation transporter), member 3																																				SO:0001651	inframe_deletion	6581					integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity	g.chr6:160868784_160868786delTGC	AF078749	CCDS5277.1	6q25.3	2013-07-18	2013-07-18		ENSG00000146477	ENSG00000146477		"""Solute carriers"""	10967	protein-coding gene	gene with protein product		604842	"""solute carrier family 22 (extraneuronal monoamine transporter), member 3"""			9632645, 9933568	Standard	NM_021977		Approved	OCT3, EMT	uc003qti.4	O75751	OTTHUMG00000015953	ENST00000275300.2:c.1544_1546delTGC	6.37:g.160868784_160868786delTGC	ENSP00000275300:p.Met515_Leu516delinsIle					SLC22A3_ENST00000275300.2_In_Frame_Del_p.ML515del	p.ML516del			O75751	S22A3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	10	1574_1576	+		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)	515					Q5SYN6|Q9UP02	In_Frame_Del	DEL	ENST00000275300.2	37	c.1547_1549delTGC	CCDS5277.1																																																																																				0.498	SLC22A3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042953.1	NM_021977		28	79						28	79	---	---	---	---
AGAP4	119016	broad.mit.edu	37	10	46342668	46342688	+	In_Frame_Del	DEL	GCTCCTGCCATCCTGTCCCCA	GCTCCTGCCATCCTGTCCCCA	-	rs200468982	byFrequency	TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	ENST00000448048.2	-	1	233_253	c.108_128delTGGGGACAGGATGGCAGGAGC	c.(106-129)gctggggacaggatggcaggagcg>gcg	p.36_43AGDRMAGA>A	AGAP4_ENST00000430779.2_5'UTR	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 4	36					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.G37_A43delGDRMAGA(1)		central_nervous_system(1)|lung(1)|ovary(1)	3						AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT	0.588																																						ENST00000448048.2																			1	Deletion - In frame(1)	p.G37_A43delGDRMAGA(1)	central_nervous_system(1)	central_nervous_system(1)|lung(1)|ovary(1)	3						c.(106-129)gcg>gc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 4				0,6		0,0,3						-2.8	0.0			1	28,40		13,2,19	no	coding	AGAP4	NM_133446.2		13,2,22	A1A1,A1R,RR		41.1765,0.0,37.8378				28,46				SO:0001651	inframe_deletion	119016				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	AF411132	CCDS7215.1	10q11.21	2014-06-19	2008-09-22	2008-09-22	ENSG00000188234	ENSG00000188234		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23459	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 1"", ""ArfGAP with GTPase domain, ankyrin repeat and PH domain 8"", ""centaurin, gamma-like family, member 5"""	CTGLF1, AGAP8, CTGLF5		12477932	Standard	XM_005271797		Approved	Em:AC012044.1, MRIP2	uc001jcx.4	Q96P64	OTTHUMG00000018088	ENST00000448048.2:c.108_128delTGGGGACAGGATGGCAGGAGC	10.37:g.46342668_46342688delGCTCCTGCCATCCTGTCCCCA	ENSP00000392513:p.Ala36_Gly42del					AGAP4_ENST00000430779.2_5'UTR	p.AGDRMAGA36del	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN			1	233_253	-			36						In_Frame_Del	DEL	ENST00000448048.2	37	c.108_128delTGGGGACAGGATGGCAGGAGC	CCDS7215.1																																																																																				0.588	AGAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047799.1	NM_133446		3	5						3	5	---	---	---	---
PIK3R5	23533	broad.mit.edu	37	17	8792478	8792479	+	Frame_Shift_Ins	INS	-	-	T			TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr17:8792478_8792479insT	ENST00000447110.1	-	9	996_997	c.872_873insA	c.(871-873)tacfs	p.Y291fs	PIK3R5_ENST00000581552.1_Frame_Shift_Ins_p.Y291fs|PIK3R5_ENST00000584803.1_Frame_Shift_Ins_p.Y291fs	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	291				AKTLAELEDIFTETAEAQELASGIGDAAEARRWLRTKLQAV GEKAGFPGVLDTAKPGKLHTIPIPVARCYTYSWSQDS -> TLQNQGSSIPSPSLSPGATPTAGARTALTSCRKSCSRNRSC SSQGSWEMMKRRKRRRRRWRRTWKLMGTVPREIPCSP (in Ref. 6; AAW63122). {ECO:0000305}.	blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GGCTCCAGCTGTAGGTGTAGCA	0.594																																					NSCLC(18;589 615 7696 20311 50332)	ENST00000447110.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						c.(871-873)tagfs		phosphoinositide-3-kinase, regulatory subunit 5																																				SO:0001589	frameshift_variant	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8792478_8792479insT	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.873dupA	17.37:g.8792479_8792479dupT	ENSP00000392812:p.Tyr291fs					PIK3R5_ENST00000581552.1_Frame_Shift_Ins_p.*291fs|PIK3R5_ENST00000584803.1_Frame_Shift_Ins_p.*291fs	p.*291fs	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN			9	996_997	-			291	AKTLAELEDIFTETAEAQELASGIGDAAEARRWLRTKLQAV GEKAGFPGVLDTAKPGKLHTIPIPVARCYTYSWSQDS -> TLQNQGSSIPSPSLSPGATPTAGARTALTSCRKSCSRNRSC SSQGSWEMMKRRKRRRRRWRRTWKLMGTVPREIPCSP (in Ref. 6; AAW63122).				B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Frame_Shift_Ins	INS	ENST00000447110.1	37	c.872_873insA	CCDS11147.1																																																																																				0.594	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		11	17						11	17	---	---	---	---
LILRA4	23547	broad.mit.edu	37	19	54843564	54843565	+	IGR	INS	-	-	C	rs556721604|rs535654307|rs35566239|rs5828583	byFrequency	TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr19:54843564_54843565insC	ENST00000291759.4	-	0	1944				AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4						immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CGGCTGCTCCTCCCCAGGCTGC	0.723													?|CCCC|CCCCC|unsure	2000	0.399361	0.1437	0.3905	5008	,	,		12788	0.5903		0.4394	False		,,,				2504	0.5133					ENST00000507363.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr19:54843564_54843565insC	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355		19.37:g.54843568_54843568dupC														0	430	-								Q32MC4	RNA	INS	ENST00000291759.4	37		CCDS12890.1																																																																																				0.723	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		3	5						3	5	---	---	---	---
