#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
TMED8	283578	broad.mit.edu	37	14	77812725	77812725	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr14:77812725C>A	ENST00000216468.7	-	3	349	c.294G>T	c.(292-294)ttG>ttT	p.L98F		NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	98					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		CTGCAGGCAGCAAATCCTGTT	0.537																																						ENST00000216468.7																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15						c.(292-294)ttG>ttT		transmembrane emp24 protein transport domain containing 8							79.0	73.0	75.0					14																	77812725		2203	4300	6503	SO:0001583	missense	283578				transport	integral to membrane		g.chr14:77812725C>A	AK095650	CCDS32125.1	14q24.3	2005-08-26	2005-08-26	2005-01-07		ENSG00000100580			18633	protein-coding gene	gene with protein product			"""family with sequence similarity 15, member B"", ""transmembrane emp24 domain containing 8"""	FAM15B			Standard	NM_213601		Approved		uc001xto.1	Q6PL24		ENST00000216468.7:c.294G>T	14.37:g.77812725C>A	ENSP00000216468:p.Leu98Phe						p.L98F	NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	3	349	-			98					B3KTI6|Q3MJB0|Q9P1V9	Missense_Mutation	SNP	ENST00000216468.7	37	c.294G>T	CCDS32125.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.784617	0.31593	.	.	ENSG00000100580	ENST00000216468	T	0.24151	1.87	5.57	2.3	0.28687	.	1.894180	0.02245	N	0.066120	T	0.18341	0.0440	N	0.14661	0.345	0.09310	N	1	B	0.23735	0.09	B	0.25759	0.063	T	0.21895	-1.0232	10	0.41790	T	0.15	.	6.8403	0.23959	0.0:0.5709:0.1293:0.2998	.	98	Q6PL24	TMED8_HUMAN	F	98	ENSP00000216468:L98F	ENSP00000216468:L98F	L	-	3	2	TMED8	76882478	0.006000	0.16342	0.602000	0.28890	0.902000	0.53008	0.377000	0.20552	0.712000	0.32039	0.655000	0.94253	TTG		0.537	TMED8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414100.1	NM_213601		3	65	1	0	0.004672	0.115264	0.00517708	3	65				
CNTNAP3	79937	broad.mit.edu	37	9	39171422	39171422	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr9:39171422C>T	ENST00000297668.6	-	8	1350	c.1277G>A	c.(1276-1278)gGc>gAc	p.G426D	CNTNAP3_ENST00000377659.1_Missense_Mutation_p.G426D|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.G426D|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.G426D|CNTNAP3_ENST00000377653.2_5'Flank|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.G338D	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	426	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TTTGAGCTTGCCATCCTTAAG	0.468																																						ENST00000297668.6																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24						c.(1276-1278)gGc>gAc		contactin associated protein-like 3							100.0	93.0	95.0					9																	39171422		2203	4300	6503	SO:0001583	missense	79937				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding	g.chr9:39171422C>T	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.1277G>A	9.37:g.39171422C>T	ENSP00000297668:p.Gly426Asp					CNTNAP3_ENST00000377659.1_Missense_Mutation_p.G426D|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.G426D|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.G426D|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.G338D	p.G426D	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	8	1350	-			426			Laminin G-like 2.		B1AMA0|Q9C0E9	Missense_Mutation	SNP	ENST00000297668.6	37	c.1277G>A	CCDS6616.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.326006	0.60743	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144;ENST00000323947;ENST00000377659	D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33	3.28	3.28	0.37604	Concanavalin A-like lectin/glucanase (2);Concanavalin A-like lectin/glucanase, subgroup (2);Laminin G domain (4);Laminin G, subdomain 2 (2);	.	.	.	.	D	0.94192	0.8136	M	0.91561	3.22	0.34595	D	0.715918	D;D;D;D;D	0.89917	1.0;0.998;0.997;1.0;0.996	D;D;D;D;D	0.91635	0.999;0.991;0.965;0.998;0.964	D	0.96812	0.9597	9	0.52906	T	0.07	.	13.6393	0.62241	0.0:1.0:0.0:0.0	.	426;426;426;426;426	E2QRH2;Q96NU0;Q9BZ76-2;A6NC89;Q9BZ76	.;CNT3B_HUMAN;.;.;CNTP3_HUMAN	D	426;426;338;426;426	ENSP00000297668:G426D;ENSP00000366884:G426D;ENSP00000350863:G338D;ENSP00000320728:G426D;ENSP00000366887:G426D	ENSP00000297668:G426D	G	-	2	0	CNTNAP3	39161422	1.000000	0.71417	0.883000	0.34634	0.845000	0.48019	2.813000	0.48002	1.799000	0.52666	0.563000	0.77884	GGC		0.468	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		4	145	0	0	0	0.009096	0	4	145				
BMS1	9790	broad.mit.edu	37	10	43318593	43318593	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr10:43318593G>A	ENST00000374518.5	+	20	3223	c.3160G>A	c.(3160-3162)Gcc>Acc	p.A1054T		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1054					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTTGGAAGTGGCCAAATTTGA	0.423																																						ENST00000374518.4																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(3160-3162)Gcc>Acc		BMS1 ribosome biogenesis factor							77.0	82.0	80.0					10																	43318593		2203	4300	6503	SO:0001583	missense	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43318593G>A	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.3160G>A	10.37:g.43318593G>A	ENSP00000363642:p.Ala1054Thr						p.A1054T	NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN			20	3223	+			1054					Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	c.3160G>A	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	G	34	5.330070	0.95733	.	.	ENSG00000165733	ENST00000374518	T	0.18016	2.24	4.54	4.54	0.55810	Ribosome biogenesis protein BMS1/TSR1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.36386	0.0965	M	0.71296	2.17	0.80722	D	1	P	0.50819	0.939	P	0.56278	0.795	T	0.10567	-1.0624	10	0.37606	T	0.19	.	17.7203	0.88349	0.0:0.0:1.0:0.0	.	1054	Q14692	BMS1_HUMAN	T	1054	ENSP00000363642:A1054T	ENSP00000363642:A1054T	A	+	1	0	BMS1	42638599	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.443000	0.97568	2.250000	0.74265	0.454000	0.30748	GCC		0.423	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		4	146	0	0	0	0.014758	0	4	146				
HCRTR1	3061	broad.mit.edu	37	1	32092570	32092570	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr1:32092570G>T	ENST00000373706.5	+	7	1420	c.1267G>T	c.(1267-1269)Gtg>Ttg	p.V423L	HCRTR1_ENST00000468521.1_Intron|HCRTR1_ENST00000403528.2_Missense_Mutation_p.V423L|HCRTR1_ENST00000373705.1_Intron			O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	423					feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|orexin receptor activity (GO:0016499)|peptide hormone binding (GO:0017046)			breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		CGTCACCACAGTGCTGCCCTG	0.612																																						ENST00000403528.2																			0				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7						c.(1267-1269)Gtg>Ttg		hypocretin (orexin) receptor 1							74.0	73.0	73.0					1																	32092570		2203	4300	6503	SO:0001583	missense	3061				feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane		g.chr1:32092570G>T	AF041243	CCDS344.1	1p33	2012-08-08			ENSG00000121764	ENSG00000121764		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4848	protein-coding gene	gene with protein product		602392				9491897	Standard	NM_001525		Approved	OX1R	uc009vtx.2	O43613	OTTHUMG00000003876	ENST00000373706.5:c.1267G>T	1.37:g.32092570G>T	ENSP00000362810:p.Val423Leu					HCRTR1_ENST00000373705.1_Intron|HCRTR1_ENST00000468521.1_Intron|HCRTR1_ENST00000373706.5_Missense_Mutation_p.V423L	p.V423L	NM_001525.2	NP_001516.2	O43613	OX1R_HUMAN		STAD - Stomach adenocarcinoma(196;0.053)	9	1652	+		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)	423					A8K3A6|Q9HBV6	Missense_Mutation	SNP	ENST00000373706.5	37	c.1267G>T	CCDS344.1	.	.	.	.	.	.	.	.	.	.	G	5.420	0.262678	0.10294	.	.	ENSG00000121764	ENST00000403528;ENST00000373706	T;T	0.57907	0.37;0.37	4.58	4.58	0.56647	.	0.000000	0.46442	D	0.000291	T	0.23054	0.0557	N	0.01874	-0.695	0.36063	D	0.84156	B	0.09022	0.002	B	0.06405	0.002	T	0.24693	-1.0153	10	0.06365	T	0.9	.	13.6145	0.62099	0.0:0.0:1.0:0.0	.	423	O43613	OX1R_HUMAN	L	423	ENSP00000384387:V423L;ENSP00000362810:V423L	ENSP00000362810:V423L	V	+	1	0	HCRTR1	31865157	0.998000	0.40836	0.981000	0.43875	0.989000	0.77384	3.038000	0.49783	2.478000	0.83669	0.655000	0.94253	GTG		0.612	HCRTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011042.1	NM_001525		4	147	1	0	0.000602214	0.014758	0.000685855	4	147				
COL16A1	1307	broad.mit.edu	37	1	32138037	32138037	+	Missense_Mutation	SNP	G	G	A	rs549508461		TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr1:32138037G>A	ENST00000373672.3	-	47	3601	c.3085C>T	c.(3085-3087)Cca>Tca	p.P1029S	COL16A1_ENST00000271069.6_Missense_Mutation_p.P1029S	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1029	Collagen-like 6.|Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CTCTGGCCTGGCAATCCCGGA	0.607																																					Colon(143;498 1786 21362 25193 36625)	ENST00000373672.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48						c.(3085-3087)Cca>Tca		collagen, type XVI, alpha 1							83.0	90.0	88.0					1																	32138037		2002	4160	6162	SO:0001583	missense	1307				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	g.chr1:32138037G>A	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.3085C>T	1.37:g.32138037G>A	ENSP00000362776:p.Pro1029Ser					COL16A1_ENST00000271069.6_Missense_Mutation_p.P1029S	p.P1029S	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)	47	3601	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	1029			Triple-helical region 2 (COL2) with 2 imperfections.		Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	ENST00000373672.3	37	c.3085C>T	CCDS41297.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.200871	0.58234	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000458715	D;D;D	0.96587	-4.06;-4.06;-2.79	4.45	4.45	0.53987	.	0.138602	0.48767	D	0.000169	D	0.94272	0.8160	N	0.25825	0.765	0.40069	D	0.97599	P;P	0.44380	0.834;0.801	P;P	0.49708	0.62;0.485	D	0.94300	0.7536	10	0.51188	T	0.08	.	12.7965	0.57562	0.0:0.0:1.0:0.0	.	1029;1029	Q07092;Q07092-2	COGA1_HUMAN;.	S	1029;1029;234	ENSP00000362776:P1029S;ENSP00000271069:P1029S;ENSP00000411457:P234S	ENSP00000271069:P1029S	P	-	1	0	COL16A1	31910624	0.996000	0.38824	0.781000	0.31783	0.988000	0.76386	5.276000	0.65580	2.480000	0.83734	0.561000	0.74099	CCA		0.607	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		4	167	0	0	0	0.009096	0	4	167				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			6	72	0	0	0	0.021553	0	6	72				
FGR	2268	broad.mit.edu	37	1	27949582	27949582	+	Silent	SNP	C	C	T			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr1:27949582C>T	ENST00000374005.3	-	4	588	c.300G>A	c.(298-300)aaG>aaA	p.K100K	FGR_ENST00000374004.1_Silent_p.K100K|FGR_ENST00000468038.1_5'Flank|FGR_ENST00000545953.1_Silent_p.K100K|FGR_ENST00000399173.1_Silent_p.K100K	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	FGR proto-oncogene, Src family tyrosine kinase	100	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				blood coagulation (GO:0007596)|defense response to Gram-positive bacterium (GO:0050830)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of innate immune response (GO:0045088)|regulation of phagocytosis (GO:0050764)|regulation of protein kinase activity (GO:0045859)|response to virus (GO:0009615)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|Fc-gamma receptor I complex binding (GO:0034988)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphotyrosine binding (GO:0001784)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		ACTTCTCGCCCTTGGTGAAGG	0.552																																						ENST00000374005.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16						c.(298-300)aaG>aaA		feline Gardner-Rasheed sarcoma viral oncogene homolog							216.0	150.0	172.0					1																	27949582		2203	4300	6503	SO:0001819	synonymous_variant	2268				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:27949582C>T	BC064382	CCDS305.1	1p36.2-p36.1	2014-06-25	2014-06-25		ENSG00000000938	ENSG00000000938		"""SH2 domain containing"""	3697	protein-coding gene	gene with protein product		164940	"""Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog"", ""v-fgr feline Gardner-Rasheed sarcoma viral oncogene homolog"", ""feline Gardner-Rasheed sarcoma viral oncogene homolog"""	SRC2		3922831	Standard	NM_001042729		Approved	c-fgr, p55c-fgr	uc001bom.3	P09769	OTTHUMG00000003516	ENST00000374005.3:c.300G>A	1.37:g.27949582C>T						FGR_ENST00000399173.1_Silent_p.K100K|FGR_ENST00000374004.1_Silent_p.K100K|FGR_ENST00000545953.1_Silent_p.K100K	p.K100K	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	4	588	-		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	100			SH3.		D3DPL7|Q9UIQ3	Silent	SNP	ENST00000374005.3	37	c.300G>A	CCDS305.1																																																																																				0.552	FGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009772.1	NM_005248		9	48	0	0	0	0.069234	0	9	48				
ZFAND5	7763	broad.mit.edu	37	9	74975033	74975033	+	Missense_Mutation	SNP	T	T	G			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr9:74975033T>G	ENST00000237937.3	-	3	813	c.256A>C	c.(256-258)Aaa>Caa	p.K86Q	ZFAND5_ENST00000376960.4_Missense_Mutation_p.K86Q|ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000376962.5_Missense_Mutation_p.K86Q|ZFAND5_ENST00000343431.2_Missense_Mutation_p.K86Q	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	O76080	ZFAN5_HUMAN	zinc finger, AN1-type domain 5	86					face development (GO:0060324)|fibroblast migration (GO:0010761)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|respiratory system process (GO:0003016)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|kidney(2)|lung(2)|prostate(1)	6						TACCTTGATTTTTCAGATGTG	0.393																																						ENST00000237937.3																			0				cervix(1)|kidney(2)|lung(2)|prostate(1)	6						c.(256-258)Aaa>Caa		zinc finger, AN1-type domain 5							82.0	81.0	81.0					9																	74975033		2203	4299	6502	SO:0001583	missense	0						DNA binding|zinc ion binding	g.chr9:74975033T>G	AF062072	CCDS6642.1	9q13-q21	2008-05-02	2006-07-07	2006-07-07	ENSG00000107372	ENSG00000107372		"""Zinc fingers, AN1-type domain containing"""	13008	protein-coding gene	gene with protein product		604761	"""zinc finger protein 216"", ""zinc finger, A20 domain containing 2"""	ZNF216, ZA20D2		9758550	Standard	NM_001278243		Approved	ZFAND5A	uc004aiy.2	O76080	OTTHUMG00000020008	ENST00000237937.3:c.256A>C	9.37:g.74975033T>G	ENSP00000237937:p.Lys86Gln					ZFAND5_ENST00000343431.2_Missense_Mutation_p.K86Q|ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000376960.4_Missense_Mutation_p.K86Q|ZFAND5_ENST00000376962.5_Missense_Mutation_p.K86Q	p.K86Q	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	O76080	ZFAN5_HUMAN			3	813	-			86					A8K484	Missense_Mutation	SNP	ENST00000237937.3	37	c.256A>C	CCDS6642.1	.	.	.	.	.	.	.	.	.	.	T	12.16	1.854444	0.32791	.	.	ENSG00000107372	ENST00000237937;ENST00000376960;ENST00000376962;ENST00000343431;ENST00000376956	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	T	0.44603	0.1301	N	0.22421	0.69	0.47778	D	0.999516	B	0.16802	0.019	B	0.09377	0.004	T	0.31806	-0.9930	8	0.20046	T	0.44	-13.4937	16.5885	0.84745	0.0:0.0:0.0:1.0	.	86	O76080	ZFAN5_HUMAN	Q	86;86;86;86;138	.	ENSP00000237937:K86Q	K	-	1	0	ZFAND5	74164853	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.809000	0.75211	2.317000	0.78254	0.460000	0.39030	AAA		0.393	ZFAND5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052644.1			4	95	0	0	0	0.009096	0	4	95				
PFKFB3	5209	broad.mit.edu	37	10	6268161	6268161	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr10:6268161A>G	ENST00000379775.4	+	14	1678	c.1348A>G	c.(1348-1350)Aag>Gag	p.K450E	PFKFB3_ENST00000379782.3_Missense_Mutation_p.K450E|PFKFB3_ENST00000379785.1_Missense_Mutation_p.K450E|PFKFB3_ENST00000360521.2_Missense_Mutation_p.K450E|PFKFB3_ENST00000317350.4_Missense_Mutation_p.K450E|PFKFB3_ENST00000536985.1_3'UTR|PFKFB3_ENST00000540253.1_Missense_Mutation_p.K464E|PFKFB3_ENST00000379789.4_Missense_Mutation_p.K430E	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	450	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						TTAGGATGCAAAGAAGGGACC	0.483																																						ENST00000379775.4																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						c.(1348-1350)Aag>Gag		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3							102.0	115.0	111.0					10																	6268161		2203	4300	6503	SO:0001583	missense	5209				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	g.chr10:6268161A>G		CCDS7078.1, CCDS44353.1, CCDS60479.1	10p15.1	2008-05-14			ENSG00000170525	ENSG00000170525			8874	protein-coding gene	gene with protein product		605319				9146922, 10072580	Standard	NM_004566		Approved		uc001ije.3	Q16875	OTTHUMG00000017621	ENST00000379775.4:c.1348A>G	10.37:g.6268161A>G	ENSP00000369100:p.Lys450Glu					PFKFB3_ENST00000379789.4_Missense_Mutation_p.K430E|PFKFB3_ENST00000317350.4_Missense_Mutation_p.K450E|PFKFB3_ENST00000360521.2_Missense_Mutation_p.K450E|PFKFB3_ENST00000379785.1_Missense_Mutation_p.K450E|PFKFB3_ENST00000536985.1_3'UTR|PFKFB3_ENST00000379782.3_Missense_Mutation_p.K450E|PFKFB3_ENST00000540253.1_Missense_Mutation_p.K464E	p.K450E	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN			14	1678	+			450			Fructose-2,6-bisphosphatase.		B7Z955|O43622|O75902|Q5VX15|Q5VX18|Q5VX19	Missense_Mutation	SNP	ENST00000379775.4	37	c.1348A>G	CCDS7078.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.48|17.48	3.400354|3.400354	0.62177|0.62177	.|.	.|.	ENSG00000170525|ENSG00000170525	ENST00000379789;ENST00000540253;ENST00000379781;ENST00000317350;ENST00000379785;ENST00000379782;ENST00000360521;ENST00000379775;ENST00000358499;ENST00000414237|ENST00000444592	.|.	.|.	.|.	5.23|5.23	5.23|5.23	0.72850|0.72850	.|.	0.053759|0.053759	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.63034|0.63034	0.2477|0.2477	L|L	0.55834|0.55834	1.745|1.745	0.58432|0.58432	D|D	0.999997|0.999997	B;P;B;P|.	0.49559|.	0.006;0.925;0.017;0.799|.	B;P;B;B|.	0.44561|.	0.005;0.453;0.005;0.162|.	T|T	0.58239|0.58239	-0.7671|-0.7671	9|7	0.07644|0.07813	T|T	0.81|0.8	0.2408|0.2408	15.1338|15.1338	0.72545|0.72545	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	464;450;450;430|.	B7Z955;Q16875-2;Q16875;Q5VX15|.	.;.;F263_HUMAN;.|.	E|R	430;464;44;450;450;450;450;450;450;19|83	.|.	ENSP00000369105:K450E|ENSP00000402055:K83R	K|K	+|+	1|2	0|0	PFKFB3|PFKFB3	6308167|6308167	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	8.300000|8.300000	0.89948|0.89948	1.978000|1.978000	0.57642|0.57642	0.528000|0.528000	0.53228|0.53228	AAG|AAA		0.483	PFKFB3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046647.1			4	154	0	0	0	0.021553	0	4	154				
LILRB3	11025	broad.mit.edu	37	19	54722660	54722660	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr19:54722660C>T	ENST00000391750.1	-	10	1610	c.1474G>A	c.(1474-1476)Gag>Aag	p.E492K	LILRB3_ENST00000424807.1_Missense_Mutation_p.E492K|LILRB3_ENST00000245620.9_Missense_Mutation_p.E492K|LILRA6_ENST00000419410.2_Missense_Mutation_p.E492K|LILRB3_ENST00000407860.2_Missense_Mutation_p.E509K|LILRA6_ENST00000440558.2_Missense_Mutation_p.E492K|LILRB3_ENST00000346401.6_Missense_Mutation_p.E504K|LILRA6_ENST00000270464.5_Missense_Mutation_p.E492K|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000469273.1_5'UTR			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	492					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCCTTGGGCTCTGTCTCCGCA	0.577																																						ENST00000391750.1																			0				endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34						c.(1474-1476)Gag>Aag		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3							112.0	114.0	114.0					19																	54722660		2203	4300	6503	SO:0001583	missense	11025				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	g.chr19:54722660C>T	U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.1474G>A	19.37:g.54722660C>T	ENSP00000375630:p.Glu492Lys					LILRA6_ENST00000270464.5_Missense_Mutation_p.E492K|LILRB3_ENST00000346401.6_Missense_Mutation_p.E504K|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000245620.9_Missense_Mutation_p.E492K|LILRB3_ENST00000469273.1_5'UTR|LILRB3_ENST00000407860.2_Missense_Mutation_p.E509K|LILRB3_ENST00000424807.1_Missense_Mutation_p.E492K|LILRA6_ENST00000440558.2_Missense_Mutation_p.E492K|LILRA6_ENST00000419410.2_Missense_Mutation_p.E492K	p.E492K			O75022	LIRB3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	10	1610	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		492					C9J1P3|C9JIP1|O15471|Q86U49	Missense_Mutation	SNP	ENST00000391750.1	37	c.1474G>A	CCDS33105.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.906476	0.33628	.	.	ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000244482;ENSG00000244482;ENSG00000244482	ENST00000391750;ENST00000424807;ENST00000346401;ENST00000245620;ENST00000407860;ENST00000440558;ENST00000270464;ENST00000419410	T;T;T;T;T;T;T;T	0.00493	7.04;7.04;7.0;7.05;7.1;7.04;7.01;7.03	2.95	0.629	0.17687	.	.	.	.	.	T	0.00724	0.0024	M	0.76328	2.33	0.09310	N	1	D;B;B;B;B;B;B	0.56968	0.978;0.39;0.255;0.149;0.34;0.23;0.042	P;B;B;B;B;B;B	0.51999	0.687;0.343;0.075;0.176;0.108;0.032;0.07	T	0.44877	-0.9299	9	0.13470	T	0.59	.	4.652	0.12599	0.0:0.6449:0.2237:0.1313	.	509;492;492;504;509;492;492	B5MCX0;F8WCY4;D3YTC4;F8W6G6;O75022-2;O75022;O75022-3	.;.;.;.;.;LIRB3_HUMAN;.	K	492;492;504;492;509;492;492;492	ENSP00000375630:E492K;ENSP00000412771:E492K;ENSP00000345184:E504K;ENSP00000245620:E492K;ENSP00000384274:E509K;ENSP00000390120:E492K;ENSP00000270464:E492K;ENSP00000411227:E492K	ENSP00000270464:E492K	E	-	1	0	LILRB3;LILRA6	59414472	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.159000	0.03150	0.274000	0.22072	0.447000	0.29281	GAG		0.577	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864		4	113	0	0	0	0.009096	0	4	113				
TSPAN15	23555	broad.mit.edu	37	10	71243586	71243586	+	Missense_Mutation	SNP	T	T	C	rs140708891	byFrequency	TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr10:71243586T>C	ENST00000373290.2	+	2	358	c.236T>C	c.(235-237)aTt>aCt	p.I79T		NM_012339.3	NP_036471.1	O95858	TSN15_HUMAN	tetraspanin 15	79					establishment of protein localization to plasma membrane (GO:0090002)|protein maturation (GO:0051604)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	9						GTCTCCTTCATTGGTGTGCTG	0.587																																						ENST00000373290.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	9						c.(235-237)aTt>aCt		tetraspanin 15		T	THR/ILE	1,4405	2.1+/-5.4	0,1,2202	181.0	132.0	149.0		236	5.8	0.8	10	dbSNP_134	149	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TSPAN15	NM_012339.3	89	0,2,6501	CC,CT,TT		0.0116,0.0227,0.0154	benign	79/295	71243586	2,13004	2203	4300	6503	SO:0001583	missense	23555					integral to plasma membrane|membrane fraction		g.chr10:71243586T>C	AY358934	CCDS7294.1	10q22.1	2013-02-14	2005-03-21	2005-03-21	ENSG00000099282	ENSG00000099282		"""Tetraspanins"""	23298	protein-coding gene	gene with protein product		613140	"""transmembrane 4 superfamily member 15"""	TM4SF15		11739647, 10719184	Standard	NM_012339		Approved	NET-7	uc001jpo.1	O95858	OTTHUMG00000018381	ENST00000373290.2:c.236T>C	10.37:g.71243586T>C	ENSP00000362387:p.Ile79Thr						p.I79T	NM_012339.3	NP_036471.1	O95858	TSN15_HUMAN			2	358	+			79					Q6UW79	Missense_Mutation	SNP	ENST00000373290.2	37	c.236T>C	CCDS7294.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.513579	0.85389	2.27E-4	1.16E-4	ENSG00000099282	ENST00000373290	T	0.79653	-1.29	5.81	5.81	0.92471	.	0.336350	0.31989	N	0.006758	T	0.77505	0.4140	L	0.31752	0.955	0.58432	D	0.999999	P	0.37038	0.579	P	0.45449	0.481	T	0.74293	-0.3712	10	0.23302	T	0.38	-5.1277	16.1403	0.81517	0.0:0.0:0.0:1.0	.	79	O95858	TSN15_HUMAN	T	79	ENSP00000362387:I79T	ENSP00000362387:I79T	I	+	2	0	TSPAN15	70913592	0.997000	0.39634	0.799000	0.32177	0.982000	0.71751	7.938000	0.87678	2.207000	0.71202	0.459000	0.35465	ATT		0.587	TSPAN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048444.1	NM_012339		4	96	0	0	0	0.014758	0	4	96				
CYP26B1	56603	broad.mit.edu	37	2	72362423	72362423	+	Silent	SNP	C	C	T	rs369577250	byFrequency	TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr2:72362423C>T	ENST00000001146.2	-	3	758	c.555G>A	c.(553-555)gcG>gcA	p.A185A	CYP26B1_ENST00000546307.1_Silent_p.A110A|CYP26B1_ENST00000412253.1_5'UTR	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	185			A -> V. {ECO:0000269|Ref.4}.		bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						TCAGCTTCTGCGCCTCCTGGT	0.622													C|||	3	0.000599042	0.0	0.0	5008	,	,		20088	0.0		0.0	False		,,,				2504	0.0031					ENST00000001146.2																			0				breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						c.(553-555)gcG>gcA		cytochrome P450, family 26, subfamily B, polypeptide 1		C		1,4405		0,1,2202	98.0	96.0	97.0		555	-8.7	0.8	2		97	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CYP26B1	NM_019885.2		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		185/513	72362423	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	56603				cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr2:72362423C>T		CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"""Cytochrome P450s"""	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.555G>A	2.37:g.72362423C>T						CYP26B1_ENST00000546307.1_Silent_p.A110A|CYP26B1_ENST00000412253.1_5'UTR	p.A185A	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN			3	758	-			185		A -> V.			B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Silent	SNP	ENST00000001146.2	37	c.555G>A	CCDS1919.1																																																																																				0.622	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251969.1	NM_019885		5	184	0	0	0	0.021553	0	5	184				
TATDN1	83940	broad.mit.edu	37	8	125499517	125499517	+	IGR	SNP	A	A	G			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr8:125499517A>G	ENST00000276692.6	-	0	1018				RNF139_ENST00000303545.3_Missense_Mutation_p.I543V|RP11-158K1.3_ENST00000518639.1_RNA	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1						DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CTTACAAGAAATAAATGATGT	0.378																																						ENST00000303545.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20						c.(1627-1629)Ata>Gta		ring finger protein 139							66.0	65.0	65.0					8																	125499517		2203	4300	6503	SO:0001628	intergenic_variant	11236				negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr8:125499517A>G	AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068		8.37:g.125499517A>G							p.I543V	NM_007218.3	NP_009149.2	Q8WU17	RN139_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		2	1999	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		543					B2R5J0|Q8TD02|Q9BY40	Missense_Mutation	SNP	ENST00000276692.6	37	c.1627A>G	CCDS6351.1	.	.	.	.	.	.	.	.	.	.	A	12.13	1.844868	0.32606	.	.	ENSG00000170881	ENST00000303545	T	0.67345	-0.26	5.5	5.5	0.81552	Zinc finger, RING-H2-type (1);	0.000000	0.85682	D	0.000000	T	0.52141	0.1716	N	0.20986	0.625	0.52501	D	0.999959	P	0.41597	0.756	B	0.38842	0.283	T	0.50915	-0.8771	10	0.17369	T	0.5	-18.2453	15.8921	0.79305	1.0:0.0:0.0:0.0	.	543	Q8WU17	RN139_HUMAN	V	543	ENSP00000304051:I543V	ENSP00000304051:I543V	I	+	1	0	RNF139	125568698	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.553000	0.67287	2.203000	0.70933	0.459000	0.35465	ATA		0.378	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381655.1	NM_032026		31	56	0	0	0	0.134883	0	31	56				
SDAD1	55153	broad.mit.edu	37	4	76881302	76881302	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr4:76881302T>C	ENST00000356260.5	-	17	1518	c.1400A>G	c.(1399-1401)tAt>tGt	p.Y467C	SDAD1_ENST00000513089.1_5'UTR|SDAD1_ENST00000395711.4_Missense_Mutation_p.Y430C	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	467					actin cytoskeleton organization (GO:0030036)|protein transport (GO:0015031)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal large subunit export from nucleus (GO:0000055)	nucleolus (GO:0005730)				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TAATTCTCCATATTCTTGTAC	0.348																																						ENST00000356260.5																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19						c.(1399-1401)tAt>tGt		SDA1 domain containing 1							122.0	110.0	114.0					4																	76881302		2203	4300	6503	SO:0001583	missense	55153				protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding	g.chr4:76881302T>C	AF132198	CCDS3573.2, CCDS75147.1	4q21.21	2010-11-24			ENSG00000198301	ENSG00000198301			25537	protein-coding gene	gene with protein product						11483580	Standard	NM_001288984		Approved	FLJ10498	uc003hje.4	Q9NVU7	OTTHUMG00000130111	ENST00000356260.5:c.1400A>G	4.37:g.76881302T>C	ENSP00000348596:p.Tyr467Cys					SDAD1_ENST00000395711.4_Missense_Mutation_p.Y430C|SDAD1_ENST00000513089.1_5'UTR	p.Y467C	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		17	1518	-			467					Q32Q11|Q68D52|Q7Z5U4|Q9H831|Q9H9P6	Missense_Mutation	SNP	ENST00000356260.5	37	c.1400A>G	CCDS3573.2	.	.	.	.	.	.	.	.	.	.	T	22.6	4.309053	0.81247	.	.	ENSG00000198301	ENST00000356260;ENST00000395711	T;T	0.39406	1.08;1.08	5.68	5.68	0.88126	SDA1 (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71187	0.3310	M	0.91300	3.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.78398	-0.2219	10	0.87932	D	0	-13.5628	13.8874	0.63717	0.0:0.0:0.0:1.0	.	430;467	E7EW05;Q9NVU7	.;SDA1_HUMAN	C	467;430	ENSP00000348596:Y467C;ENSP00000379061:Y430C	ENSP00000348596:Y467C	Y	-	2	0	SDAD1	77100326	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.227000	0.78070	2.182000	0.69389	0.533000	0.62120	TAT		0.348	SDAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252418.3	NM_018115		6	67	0	0	0	0.021553	0	6	67				
OGDHL	55753	broad.mit.edu	37	10	50952733	50952733	+	Missense_Mutation	SNP	A	A	C			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr10:50952733A>C	ENST00000374103.4	-	13	1780	c.1695T>G	c.(1693-1695)atT>atG	p.I565M	OGDHL_ENST00000419399.1_Missense_Mutation_p.I508M|OGDHL_ENST00000432695.1_Missense_Mutation_p.I356M	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	565					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TTATATGCAGAATCTTTTTAT	0.527																																						ENST00000374103.4																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						c.(1693-1695)atT>atG		oxoglutarate dehydrogenase-like							138.0	132.0	134.0					10																	50952733		2203	4300	6503	SO:0001583	missense	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50952733A>C	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.1695T>G	10.37:g.50952733A>C	ENSP00000363216:p.Ile565Met					OGDHL_ENST00000432695.1_Missense_Mutation_p.I356M|OGDHL_ENST00000419399.1_Missense_Mutation_p.I508M	p.I565M	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN			13	1780	-			565					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	c.1695T>G	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.272938	0.59649	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	D;D;D	0.95756	-3.8;-3.8;-3.8	5.6	1.03	0.20045	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.93785	0.8013	L	0.35414	1.06	0.49130	D	0.999757	P;P;P	0.51147	0.82;0.82;0.942	P;P;P	0.56343	0.693;0.62;0.796	D	0.90532	0.4496	10	0.40728	T	0.16	.	9.9538	0.41655	0.5623:0.0:0.4377:0.0	.	508;356;565	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	M	565;508;356	ENSP00000363216:I565M;ENSP00000401356:I508M;ENSP00000390240:I356M	ENSP00000363216:I565M	I	-	3	3	OGDHL	50622739	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	0.728000	0.26013	0.119000	0.18210	-0.128000	0.14901	ATT		0.527	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		5	109	0	0	0	0.021553	0	5	109				
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs376114863		TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478																																						ENST00000418868.1																			0																																																			0							g.chr3:197348674A>G																													3.37:g.197348674A>G								NR_003266.2						0	585	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.478	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			3	95	0	0	0	0.115264	0	3	95				
NCAM2	4685	broad.mit.edu	37	21	22804492	22804492	+	Silent	SNP	C	C	A			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr21:22804492C>A	ENST00000400546.1	+	12	1794	c.1545C>A	c.(1543-1545)tcC>tcA	p.S515S	NCAM2_ENST00000284894.7_Silent_p.S373S	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	515	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CCAAGGTTTCCTTCAACAAAC	0.453																																						ENST00000400546.1																			0				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108						c.(1543-1545)tcC>tcA		neural cell adhesion molecule 2							77.0	74.0	75.0					21																	22804492		1913	4135	6048	SO:0001819	synonymous_variant	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22804492C>A		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.1545C>A	21.37:g.22804492C>A						NCAM2_ENST00000284894.7_Silent_p.S373S	p.S515S	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	12	1794	+		Lung NSC(9;0.195)	515			Fibronectin type-III 1.		A8MQ06|B7Z841|Q7Z7F2	Silent	SNP	ENST00000400546.1	37	c.1545C>A	CCDS42910.1																																																																																				0.453	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		7	79	1	0	1.12685e-05	0.047766	1.32003e-05	7	79				
TCN2	6948	broad.mit.edu	37	22	31008997	31008997	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr22:31008997A>G	ENST00000215838.3	+	3	889	c.395A>G	c.(394-396)aAa>aGa	p.K132R	TCN2_ENST00000407817.3_Intron|TCN2_ENST00000405742.3_Missense_Mutation_p.K128R			P20062	TCO2_HUMAN	transcobalamin II	132					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCACAGCTCAAATGGTTCCTG	0.582																																						ENST00000215838.3																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22						c.(394-396)aAa>aGa		transcobalamin II	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						56.0	51.0	53.0					22																	31008997		2203	4300	6503	SO:0001583	missense	6948				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding	g.chr22:31008997A>G		CCDS13881.1, CCDS54519.1	22q12.2	2014-09-17	2010-05-11		ENSG00000185339	ENSG00000185339			11653	protein-coding gene	gene with protein product	"""macrocytic anemia"""	613441	"""transcobalamin II; macrocytic anemia"""			1708393, 7742531	Standard	NM_000355		Approved	D22S676, D22S750, TC2	uc003aip.2	P20062	OTTHUMG00000151095	ENST00000215838.3:c.395A>G	22.37:g.31008997A>G	ENSP00000215838:p.Lys132Arg					TCN2_ENST00000405742.3_Missense_Mutation_p.K128R|TCN2_ENST00000407817.3_Intron	p.K132R			P20062	TCO2_HUMAN			3	889	+			132					Q96FD4|Q9BVI8|Q9UCI5|Q9UCI6|Q9UDM0	Missense_Mutation	SNP	ENST00000215838.3	37	c.395A>G	CCDS13881.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.273698	0.80580	.	.	ENSG00000185339	ENST00000215838;ENST00000405742	T;T	0.13778	2.56;2.56	5.41	5.41	0.78517	.	0.042833	0.85682	D	0.000000	T	0.32496	0.0831	M	0.62723	1.935	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.02220	-1.1193	10	0.29301	T	0.29	-28.4506	12.9695	0.58505	1.0:0.0:0.0:0.0	.	128;132	B5MBX2;P20062	.;TCO2_HUMAN	R	132;128	ENSP00000215838:K132R;ENSP00000385914:K128R	ENSP00000215838:K132R	K	+	2	0	TCN2	29338997	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.025000	0.64097	2.055000	0.61198	0.533000	0.62120	AAA		0.582	TCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321282.2	NM_000355		35	31	0	0	0	0.050027	0	35	31				
TRAF4	9618	broad.mit.edu	37	17	27074944	27074944	+	Missense_Mutation	SNP	T	T	A			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr17:27074944T>A	ENST00000262395.5	+	3	408	c.279T>A	c.(277-279)agT>agA	p.S93R	AC010761.9_ENST00000577325.1_RNA|AC010761.10_ENST00000579468.1_RNA|TRAF4_ENST00000444415.3_Missense_Mutation_p.S93R|TRAF4_ENST00000262396.6_Missense_Mutation_p.S93R	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	93					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein kinase activity (GO:0045860)|regulation of apoptotic process (GO:0042981)|respiratory gaseous exchange (GO:0007585)|respiratory tube development (GO:0030323)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	DNA binding (GO:0003677)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|WW domain binding (GO:0050699)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			GCCGCTGGAGTGGGCCACTAC	0.612																																						ENST00000262395.5																			0				endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(277-279)agT>agA		TNF receptor-associated factor 4							85.0	70.0	75.0					17																	27074944		2203	4300	6503	SO:0001583	missense	9618				apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding	g.chr17:27074944T>A	X80200	CCDS11243.1	17q11-q21.3	2013-01-09			ENSG00000076604	ENSG00000076604		"""RING-type (C3HC4) zinc fingers"""	12034	protein-coding gene	gene with protein product		602464				7592751, 7490069	Standard	NM_004295		Approved	CART1, MLN62, RNF83	uc002hcs.3	Q9BUZ4	OTTHUMG00000132677	ENST00000262395.5:c.279T>A	17.37:g.27074944T>A	ENSP00000262395:p.Ser93Arg					TRAF4_ENST00000262396.6_Missense_Mutation_p.S93R|TRAF4_ENST00000444415.3_Missense_Mutation_p.S93R	p.S93R	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)		3	408	+	Lung NSC(42;0.01)		93					O75615|Q14848|Q2KJU4|Q2PJN8	Missense_Mutation	SNP	ENST00000262395.5	37	c.279T>A	CCDS11243.1	.	.	.	.	.	.	.	.	.	.	T	14.49	2.550526	0.45383	.	.	ENSG00000076604	ENST00000262395;ENST00000454852;ENST00000422344;ENST00000444415;ENST00000262396	T;T;T;T	0.32023	1.81;1.81;1.81;1.47	5.28	-4.2	0.03823	TRAF-like (1);Seven In Absentia Homolog-type (1);	0.237917	0.48767	D	0.000175	T	0.19927	0.0479	L	0.43923	1.385	0.30617	N	0.758934	B;B	0.23650	0.089;0.08	B;B	0.20384	0.02;0.029	T	0.07986	-1.0744	10	0.39692	T	0.17	.	9.5234	0.39149	0.0:0.5401:0.1282:0.3317	.	93;93	Q9BUZ4;Q9BUZ4-2	TRAF4_HUMAN;.	R	93;93;100;93;93	ENSP00000262395:S93R;ENSP00000415789:S100R;ENSP00000438154:S93R;ENSP00000262396:S93R	ENSP00000262395:S93R	S	+	3	2	TRAF4	24099071	0.000000	0.05858	0.932000	0.37286	0.841000	0.47740	-2.643000	0.00862	-0.644000	0.05465	0.454000	0.30748	AGT		0.612	TRAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255944.2	NM_145751		25	28	0	0	0	0.091800	0	25	28				
GRIN3A	116443	broad.mit.edu	37	9	104357184	104357184	+	Intron	SNP	T	T	A			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr9:104357184T>A	ENST00000361820.3	-	7	3367				PPP3R2_ENST00000374806.1_Missense_Mutation_p.Y10F	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A						calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	CTCCGCCGGGTAACTGGCCTC	0.587																																						ENST00000374806.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(28-30)tAc>tTc		protein phosphatase 3, regulatory subunit B, beta	Cyclosporine(DB00091)						47.0	52.0	51.0					9																	104357184		2203	4300	6503	SO:0001627	intron_variant	5535						calcium ion binding	g.chr9:104357184T>A		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2767-15542A>T	9.37:g.104357184T>A						GRIN3A_ENST00000361820.3_Intron	p.Y10F	NM_147180.2	NP_671709.1	Q96LZ3	CANB2_HUMAN			1	99	-		Acute lymphoblastic leukemia(62;0.0527)	7					B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.29A>T	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	T	10.13	1.265376	0.23136	.	.	ENSG00000188386	ENST00000374806;ENST00000541976	T	0.68765	-0.35	3.94	2.75	0.32379	.	0.222627	0.23118	N	0.051738	T	0.36276	0.0961	N	0.03948	-0.315	0.33508	D	0.590826	B	0.02656	0.0	B	0.01281	0.0	T	0.34254	-0.9836	10	0.11794	T	0.64	-24.8004	8.0992	0.30846	0.1807:0.0:0.0:0.8193	.	7	Q96LZ3	CANB2_HUMAN	F	10	ENSP00000363939:Y10F	ENSP00000363939:Y10F	Y	-	2	0	PPP3R2	103397005	1.000000	0.71417	0.999000	0.59377	0.926000	0.56050	3.062000	0.49971	0.808000	0.34231	0.460000	0.39030	TAC		0.587	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			42	68	0	0	0	0.104719	0	42	68				
COL27A1	85301	broad.mit.edu	37	9	117071596	117071596	+	Silent	SNP	G	G	A			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr9:117071596G>A	ENST00000356083.3	+	60	5665	c.5274G>A	c.(5272-5274)gaG>gaA	p.E1758E		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1758	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TAAGCTCCGAGGTGACCCAGC	0.617																																						ENST00000356083.3																			0				central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(5272-5274)gaG>gaA		collagen, type XXVII, alpha 1							137.0	139.0	138.0					9																	117071596		2203	4300	6503	SO:0001819	synonymous_variant	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117071596G>A	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.5274G>A	9.37:g.117071596G>A							p.E1758E	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			60	5665	+			1758			Fibrillar collagen NC1.		Q66K43|Q96JF7	Silent	SNP	ENST00000356083.3	37	c.5274G>A	CCDS6802.1																																																																																				0.617	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		109	166	0	0	0	0.139131	0	109	166				
TIGD4	201798	broad.mit.edu	37	4	153691793	153691793	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr4:153691793C>T	ENST00000304337.2	-	2	1184	c.364G>A	c.(364-366)Ggc>Agc	p.G122S		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	122	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					TCATTATGGCCCAGTTTCTGG	0.403																																						ENST00000304337.2																			0				breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26						c.(364-366)Ggc>Agc		tigger transposable element derived 4							88.0	87.0	87.0					4																	153691793		2203	4300	6503	SO:0001583	missense	201798				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding	g.chr4:153691793C>T	AK058054	CCDS34079.1	4q31.23	2008-02-05							18335	protein-coding gene	gene with protein product							Standard	NM_145720		Approved		uc003imy.3	Q8IY51		ENST00000304337.2:c.364G>A	4.37:g.153691793C>T	ENSP00000355162:p.Gly122Ser						p.G122S	NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN			2	1184	-	all_hematologic(180;0.093)		122			HTH CENPB-type.		Q96LP5	Missense_Mutation	SNP	ENST00000304337.2	37	c.364G>A	CCDS34079.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358039	0.82243	.	.	ENSG00000169989	ENST00000304337	T	0.19532	2.14	6.17	6.17	0.99709	Homeodomain-related (1);Pogo transposase / Cenp-B / PDC2, DNA-binding HTH domain (3);Homeodomain-like (1);	0.000000	0.50627	D	0.000113	T	0.44912	0.1316	M	0.72576	2.205	0.53005	D	0.999961	D	0.60160	0.987	P	0.59357	0.856	T	0.03473	-1.1033	10	0.35671	T	0.21	-24.6648	20.4898	0.99202	0.0:1.0:0.0:0.0	.	122	Q8IY51	TIGD4_HUMAN	S	122	ENSP00000355162:G122S	ENSP00000355162:G122S	G	-	1	0	TIGD4	153911243	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.463000	0.66712	2.941000	0.99782	0.655000	0.94253	GGC		0.403	TIGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365028.1	NM_145720		4	150	0	0	0	0.009096	0	4	150				
EPHB6	2051	broad.mit.edu	37	7	142563827	142563827	+	Silent	SNP	C	C	T	rs201397299	byFrequency	TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr7:142563827C>T	ENST00000392957.2	+	9	2002	c.1215C>T	c.(1213-1215)gtC>gtT	p.V405V	EPHB6_ENST00000411471.2_Silent_p.V128V|EPHB6_ENST00000442129.1_Silent_p.V405V	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	405	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TCTTCAATGTCGTGTGCAAGG	0.637																																						ENST00000392957.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87						c.(1213-1215)gtC>gtT		EPH receptor B6		C		0,4404		0,0,2202	35.0	30.0	32.0		1215	-3.2	0.9	7		32	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	EPHB6	NM_004445.3		0,1,6500	TT,TC,CC		0.0116,0.0,0.0077		405/1022	142563827	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	0					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142563827C>T	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.1215C>T	7.37:g.142563827C>T						EPHB6_ENST00000411471.2_Silent_p.V128V|EPHB6_ENST00000442129.1_Silent_p.V405V	p.V405V	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN			9	2002	+	Melanoma(164;0.059)		405			Fibronectin type-III 1.		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Silent	SNP	ENST00000392957.2	37	c.1215C>T	CCDS5873.2																																																																																				0.637	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			13	15	0	0	0	0.093190	0	13	15				
TRIOBP	11078	broad.mit.edu	37	22	38119859	38119859	+	Silent	SNP	C	C	T	rs66505048	byFrequency	TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr22:38119859C>T	ENST00000406386.3	+	7	1551	c.1296C>T	c.(1294-1296)tgC>tgT	p.C432C		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	432					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.C432C(6)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAACATCCTGCGCCCAGCGGG	0.582																																						ENST00000406386.3																			6	Substitution - coding silent(6)	p.C432C(6)	kidney(3)|cervix(1)|lung(1)|endometrium(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1294-1296)tgC>tgT		TRIO and F-actin binding protein																																				SO:0001819	synonymous_variant	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38119859C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1296C>T	22.37:g.38119859C>T						RP1-37E16.12_ENST00000455236.1_RNA	p.C432C	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	1551	+	Melanoma(58;0.0574)		432					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	c.1296C>T	CCDS43015.1																																																																																				0.582	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			4	130	0	0	0	0.014758	0	4	130				
AGA	175	broad.mit.edu	37	4	178359917	178359917	+	Silent	SNP	G	G	A			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr4:178359917G>A	ENST00000264595.2	-	4	616	c.489C>T	c.(487-489)tgC>tgT	p.C163C	AGA_ENST00000506853.1_5'UTR	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	163			C -> S (in AGU; most frequent mutation; abolishes autocatalytic cleavage and enzyme activity; dbSNP:rs121964904). {ECO:0000269|PubMed:1703489, ECO:0000269|PubMed:1904874, ECO:0000269|PubMed:2011603}.		protein deglycosylation (GO:0006517)|protein maturation (GO:0051604)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity (GO:0003948)|peptidase activity (GO:0008233)			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		AATTTGGCTGGCAATTCCGAG	0.393																																						ENST00000264595.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16						c.(487-489)tgC>tgT		aspartylglucosaminidase							52.0	46.0	48.0					4																	178359917		2203	4300	6503	SO:0001819	synonymous_variant	175				asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	g.chr4:178359917G>A	X55330	CCDS3829.1	4q34.3	2014-06-23			ENSG00000038002	ENSG00000038002	3.5.1.26		318	protein-coding gene	gene with protein product	"""glycosylasparaginase"", ""N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase"""	613228					Standard	NM_000027		Approved	ASRG	uc003iuu.2	P20933	OTTHUMG00000160723	ENST00000264595.2:c.489C>T	4.37:g.178359917G>A						AGA_ENST00000506853.1_5'UTR	p.C163C	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)	4	616	-		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)	163		C -> S (in AGU; Finnish. Most frequent mutation; >98% of Finnish AGU alleles).			B2R7H2|D3DP47|Q4W5Q2|Q6FHN6|Q9UCK6|Q9UCK7|Q9UCK8	Silent	SNP	ENST00000264595.2	37	c.489C>T	CCDS3829.1	.	.	.	.	.	.	.	.	.	.	G	8.384	0.838282	0.16891	.	.	ENSG00000038002	ENST00000510635	.	.	.	5.65	2.62	0.31277	.	.	.	.	.	T	0.58921	0.2156	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54029	-0.8354	4	.	.	.	-27.9268	9.5832	0.39501	0.3216:0.0:0.6784:0.0	.	.	.	.	V	62	.	.	A	-	2	0	AGA	178596911	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.169000	0.31871	0.754000	0.32968	-0.794000	0.03295	GCC		0.393	AGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361916.1	NM_000027		3	31	0	0	0	0.115264	0	3	31				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	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		35	53	0	0	0	0.092188	0	35	53				
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T	rs201682072		TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					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.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393																																						ENST00000435989.2																			10	Substitution - Missense(10)	p.D404E(10)	urinary_tract(3)|kidney(3)|prostate(2)|NS(1)|skin(1)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(1210-1212)gaC>gaA		zinc finger protein 814							117.0	93.0	100.0					19																	58385546		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385546G>T		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.1212C>A	19.37:g.58385546G>T	ENSP00000410545:p.Asp404Glu					ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron	p.D404E	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	1446	-			404					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1212C>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.545823	0.27652	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.14640	2.49	2.33	-4.66	0.03329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.03177	-0.4	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.33574	-0.9863	9	0.54805	T	0.06	.	1.2175	0.01917	0.3897:0.3041:0.1331:0.1731	.	404	B7Z6K7	ZN814_HUMAN	E	404;266	ENSP00000410545:D404E	ENSP00000365378:D266E	D	-	3	2	ZNF814	63077358	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.489000	0.02306	-2.531000	0.00491	-1.292000	0.01352	GAC		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		3	11	1	0	0.115264	0.115264	0.124364	3	11				
C16orf72	29035	broad.mit.edu	37	16	9197107	9197107	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr16:9197107G>A	ENST00000327827.7	+	3	971	c.574G>A	c.(574-576)Gct>Act	p.A192T	RP11-473I1.5_ENST00000565648.1_RNA|RP11-473I1.9_ENST00000574285.1_RNA	NM_014117.2	NP_054836.2	Q14CZ0	CP072_HUMAN	chromosome 16 open reading frame 72	192										endometrium(4)|large_intestine(2)|lung(2)	8						GGAAGCCATAGCTCTGCATGG	0.463																																						ENST00000327827.7																			0				endometrium(4)|large_intestine(2)|lung(2)	8						c.(574-576)Gct>Act		chromosome 16 open reading frame 72							49.0	49.0	49.0					16																	9197107		2197	4300	6497	SO:0001583	missense	29035							g.chr16:9197107G>A	AK123266	CCDS10538.1	16p13.2	2012-11-19			ENSG00000182831	ENSG00000182831			30103	protein-coding gene	gene with protein product						8889548	Standard	NM_014117		Approved	FLJ41272, PRO0149	uc002czm.3	Q14CZ0	OTTHUMG00000178147	ENST00000327827.7:c.574G>A	16.37:g.9197107G>A	ENSP00000331720:p.Ala192Thr						p.A192T	NM_014117.2	NP_054836.2	Q14CZ0	CP072_HUMAN			3	971	+			192						Missense_Mutation	SNP	ENST00000327827.7	37	c.574G>A	CCDS10538.1	.	.	.	.	.	.	.	.	.	.	G	35	5.546807	0.96488	.	.	ENSG00000182831	ENST00000327827	T	0.50277	0.75	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.72301	0.3443	M	0.77103	2.36	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	T	0.73091	-0.4092	10	0.87932	D	0	-17.9188	20.6721	0.99693	0.0:0.0:1.0:0.0	.	192	Q14CZ0	CP072_HUMAN	T	192	ENSP00000331720:A192T	ENSP00000331720:A192T	A	+	1	0	C16orf72	9104608	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.751000	0.98889	2.894000	0.99253	0.591000	0.81541	GCT		0.463	C16orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440760.2	NM_014117		5	53	0	0	0	0.021553	0	5	53				
SEC22B	9554	broad.mit.edu	37	1	145109312	145109313	+	RNA	INS	-	-	A	rs9424678|rs11370361|rs142440425		TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr1:145109312_145109313insA	ENST00000453618.1	+	0	512							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											aaaccaaaaacaaaAAAAAAAG	0.416																																						ENST00000453618.1																			0													SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)																																						9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145109312_145109313insA	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145109322_145109322dupA										O75396	SC22B_HUMAN			0	512	+								A8K1G0	RNA	INS	ENST00000453618.1	37																																																																																						0.416	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		4	6						4	6	---	---	---	---
KIAA1217	56243	broad.mit.edu	37	10	24822125	24822127	+	In_Frame_Del	DEL	GAA	GAA	-	rs140819336	byFrequency	TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr10:24822125_24822127delGAA	ENST00000376454.3	+	16	3403_3405	c.3373_3375delGAA	c.(3373-3375)gaadel	p.E1129del	KIAA1217_ENST00000376451.2_In_Frame_Del_p.E812del|KIAA1217_ENST00000396446.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000376462.1_In_Frame_Del_p.E1049del|KIAA1217_ENST00000307544.6_In_Frame_Del_p.E812del|KIAA1217_ENST00000396445.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000458595.1_In_Frame_Del_p.E1094del|KIAA1217_ENST00000376452.3_In_Frame_Del_p.E1093del	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1129					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GGATGAGGAGGAAGAAGAAGAAG	0.552														6	0.00119808	0.0008	0.0014	5008	,	,		21525	0.0		0.004	False		,,,				2504	0.0					ENST00000376451.2																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(2422-2424)del		KIAA1217			,,	28,4236		0,28,2104					,,	3.6	1.0		dbSNP_134	73	85,8169		0,85,4042	no	coding,coding,coding	KIAA1217	NM_019590.3,NM_001098501.1,NM_001098500.1	,,	0,113,6146	A1A1,A1R,RR		1.0298,0.6567,0.9027	,,	,,		113,12405				SO:0001651	inframe_deletion	56243				embryonic skeletal system development	cytoplasm		g.chr10:24822125_24822127delGAA	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.3373_3375delGAA	10.37:g.24822134_24822136delGAA	ENSP00000365637:p.Glu1129del					KIAA1217_ENST00000376454.3_In_Frame_Del_p.E1129del|KIAA1217_ENST00000458595.1_In_Frame_Del_p.E1094del|KIAA1217_ENST00000376452.3_In_Frame_Del_p.E1093del|KIAA1217_ENST00000307544.6_In_Frame_Del_p.E812del|KIAA1217_ENST00000376462.1_In_Frame_Del_p.E1049del|KIAA1217_ENST00000396446.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000396445.1_In_Frame_Del_p.E812del	p.E812del			Q5T5P2	SKT_HUMAN			11	2682_2684	+			1129					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	In_Frame_Del	DEL	ENST00000376454.3	37	c.2422_2424delGAA	CCDS31165.1																																																																																				0.552	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		7	100						7	100	---	---	---	---
RP11-252A24.2	0	broad.mit.edu	37	16	74378976	74378976	+	RNA	DEL	T	T	-	rs35591542		TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr16:74378976delT	ENST00000429810.2	-	0	1086																											ACCTCTTGAAttttttttttt	0.418																																						ENST00000429810.2																			0																																																			0							g.chr16:74378976delT																													16.37:g.74378976delT														0	1086	-									RNA	DEL	ENST00000429810.2	37																																																																																						0.418	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			3	4						3	4	---	---	---	---
