#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PCSK1	5122	broad.mit.edu	37	5	95735751	95735751	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr5:95735751C>T	ENST00000311106.3	-	10	1573	c.1336G>A	c.(1336-1338)Gcc>Acc	p.A446T	PCSK1_ENST00000513085.1_5'UTR|PCSK1_ENST00000508626.1_Missense_Mutation_p.A399T|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	446	Peptidase S8.				cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AGAGCTTTGGCATTTAGCAAG	0.493																																						uc003kls.2																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36						c.(1336-1338)Gcc>Acc		Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						118.0	111.0	113.0					5																	95735751		2203	4300	6503	SO:0001583	missense	5122				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	g.chr5:95735751C>T		CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"""prohormone convertase 3"", ""prohormone convertase 1"", ""neuroendocrine convertase 1"", ""proprotein convertase 1"""	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.1336G>A	5.37:g.95735751C>T	ENSP00000308024:p.Ala446Thr		Somatic				PCSK1_uc010jbi.2_Missense_Mutation_p.A136T|PCSK1_uc021ybq.1_Missense_Mutation_p.A399T	p.A446T	NM_000439	NP_000430	WXS	Illumina GAIIx	Phase_I	P29120	NEC1_HUMAN		all cancers(79;3.44e-16)	9	1575	-		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)	446					B7Z8T7|E9PHA1|P78478|Q92532	Missense_Mutation	SNP	ENST00000311106.3	37	c.1336G>A	CCDS4081.1	.	.	.	.	.	.	.	.	.	.	C	34	5.312467	0.95655	.	.	ENSG00000175426	ENST00000311106;ENST00000508626	D;D	0.89050	-2.46;-2.46	5.35	5.35	0.76521	Peptidase S8/S53, subtilisin/kexin/sedolisin (2);	0.095078	0.64402	D	0.000001	D	0.95089	0.8409	M	0.84773	2.715	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.74348	0.932;0.983	D	0.95461	0.8543	10	0.87932	D	0	-16.8571	19.0312	0.92957	0.0:1.0:0.0:0.0	.	399;446	E9PHA1;P29120	.;NEC1_HUMAN	T	446;399	ENSP00000308024:A446T;ENSP00000421600:A399T	ENSP00000308024:A446T	A	-	1	0	PCSK1	95761507	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.268000	0.78473	2.661000	0.90470	0.557000	0.71058	GCC		0.493	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		47	49	0	0	0	1	0	47	49				
ITGA6	3655	broad.mit.edu	37	2	173292654	173292654	+	Silent	SNP	C	C	T	rs377085042		TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr2:173292654C>T	ENST00000264106.6	+	1	341	c.138C>T	c.(136-138)ttC>ttT	p.F46F	ITGA6_ENST00000409532.1_Intron|ITGA6_ENST00000343713.4_Silent_p.F46F|ITGA6_ENST00000375221.2_Silent_p.F46F|AC078883.4_ENST00000441212.1_RNA|ITGA6_ENST00000409080.1_Silent_p.F46F|ITGA6_ENST00000264107.7_Silent_p.F46F			P23229	ITA6_HUMAN	integrin, alpha 6	46					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TCTTCGGCTTCTCGCTGGCCA	0.672																																						uc002uhp.1																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44						c.(136-138)ttC>ttT		Homo sapiens integrin, alpha 6 (ITGA6), transcript variant 1, mRNA.							44.0	46.0	46.0					2																	173292654		2203	4299	6502	SO:0001819	synonymous_variant	3655				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity	g.chr2:173292654C>T		CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"""CD molecules"", ""Integrins"""	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.138C>T	2.37:g.173292654C>T			Somatic				ITGA6_uc010fqk.1_Intron|ITGA6_uc010zdy.1_Intron|ITGA6_uc002uho.1_Silent_p.F46F	p.F46F	NM_001079818	NP_001073286	WXS	Illumina GAIIx	Phase_I	P23229	ITA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0979)		0	341	+			46					B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Silent	SNP	ENST00000264106.6	37	c.138C>T																																																																																					0.672	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				19	39	0	0	0	1	0	19	39				
POC1B	282809	broad.mit.edu	37	12	89864264	89864264	+	Silent	SNP	G	G	A	rs185311452	byFrequency	TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr12:89864264G>A	ENST00000313546.3	-	7	812	c.684C>T	c.(682-684)agC>agT	p.S228S	POC1B_ENST00000393179.4_Silent_p.S98S|POC1B_ENST00000549035.1_Silent_p.S186S|POC1B_ENST00000378528.2_Intron|POC1B_ENST00000541909.1_Silent_p.S98S|POC1B_ENST00000549504.1_Intron	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B	228					cell proliferation (GO:0008283)|cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						TAACTCCACCGCTGTGAACTG	0.388													G|||	4	0.000798722	0.0	0.0	5008	,	,		12769	0.004		0.0	False		,,,				2504	0.0					uc001tbc.3																			0				endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(682-684)agC>agT		Homo sapiens POC1 centriolar protein homolog B (Chlamydomonas) (POC1B), transcript variant 1, mRNA.							106.0	105.0	105.0					12																	89864264		2203	4300	6503	SO:0001819	synonymous_variant	8693				carbohydrate metabolic process	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:89864264G>A	AL832918	CCDS31869.1, CCDS55859.1	12q21.33	2014-05-02	2013-08-21	2010-03-26	ENSG00000139323	ENSG00000139323		"""WD repeat domain containing"""	30836	protein-coding gene	gene with protein product		614784	"""WD repeat domain 51B"", ""POC1 centriolar protein homolog B (Chlamydomonas)"""	WDR51B		19109428	Standard	NM_172240		Approved	TUWD12, FLJ14923		Q8TC44	OTTHUMG00000169944	ENST00000313546.3:c.684C>T	12.37:g.89864264G>A			Somatic				GALNT4_uc001tba.3_Silent_p.S186S|GALNT4_uc001tbb.3_Silent_p.S98S|GALNT4_uc010sun.2_Non-coding_Transcript|GALNT4_uc009zsp.3_Non-coding_Transcript|GALNT4_uc009zsq.3_Intron	p.S228S	NM_172240	NP_001186706	WXS	Illumina GAIIx	Phase_I	Q8N4A0	GALT4_HUMAN			6	1051	-			0			Catalytic subdomain A.		G3V1X0	Silent	SNP	ENST00000313546.3	37	c.684C>T	CCDS31869.1																																																																																				0.388	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406637.1	NM_172240		3	68	0	0	0	1	0	3	68				
ITGAL	3683	broad.mit.edu	37	16	30510706	30510706	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr16:30510706C>T	ENST00000356798.6	+	17	2221	c.2041C>T	c.(2041-2043)Cgg>Tgg	p.R681W	ITGAL_ENST00000358164.5_Missense_Mutation_p.R598W|ITGAL_ENST00000433423.2_Missense_Mutation_p.R77W|RP11-297C4.1_ENST00000563751.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	681					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	GGATGGCCACCGGACCAGAAG	0.537																																					NSCLC(110;1462 1641 3311 33990 49495)	uc002dyi.4																			0		p.R681Q(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(2041-2043)Cgg>Tgg		Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	Efalizumab(DB00095)						117.0	113.0	114.0					16																	30510706		2197	4300	6497	SO:0001583	missense	3683				T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30510706C>T		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.2041C>T	16.37:g.30510706C>T	ENSP00000349252:p.Arg681Trp		Somatic				ITGAL_uc002dyj.4_Missense_Mutation_p.R598W|ITGAL_uc010vev.2_Missense_Mutation_p.R77W	p.R681W	NM_002209	NP_002200	WXS	Illumina GAIIx	Phase_I	P20701	ITAL_HUMAN			16	2217	+			681					O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	c.2041C>T	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.011749	0.35511	.	.	ENSG00000005844	ENST00000356798;ENST00000358164;ENST00000433423	T;T;T	0.52295	0.67;0.67;1.34	5.79	5.79	0.91817	Integrin alpha-2 (1);	0.000000	0.51477	D	0.000096	T	0.69160	0.3080	M	0.80847	2.515	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.72530	-0.4265	10	0.87932	D	0	.	12.5499	0.56222	0.1661:0.8339:0.0:0.0	.	77;598;681	B4E021;Q96HB1;P20701	.;.;ITAL_HUMAN	W	681;598;77	ENSP00000349252:R681W;ENSP00000350886:R598W;ENSP00000409377:R77W	ENSP00000349252:R681W	R	+	1	2	ITGAL	30418207	0.275000	0.24201	1.000000	0.80357	0.502000	0.33828	0.223000	0.17719	2.753000	0.94483	0.650000	0.86243	CGG		0.537	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			57	185	0	0	0	1	0	57	185				
GPR135	64582	broad.mit.edu	37	14	59930877	59930877	+	Silent	SNP	G	G	A			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr14:59930877G>A	ENST00000395116.1	-	1	1183	c.1068C>T	c.(1066-1068)gcC>gcT	p.A356A		NM_022571.5	NP_072093.2	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	356						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.134)		GGGCCTGCCGGGCGGCGGCCA	0.667																																						uc010apj.3																			0				breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1066-1068)gcC>gcT		Homo sapiens G protein-coupled receptor 135 (GPR135), mRNA.							15.0	16.0	15.0					14																	59930877		2183	4280	6463	SO:0001819	synonymous_variant	64582					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr14:59930877G>A	AY288418	CCDS9738.1	14q23.1	2012-08-21			ENSG00000181619	ENSG00000181619		"""GPCR / Class A : Orphans"""	19991	protein-coding gene	gene with protein product		607970				14623098	Standard	NM_022571		Approved	HUMNPIIY20, PAFR	uc010apj.3	Q8IZ08	OTTHUMG00000140325	ENST00000395116.1:c.1068C>T	14.37:g.59930877G>A			Somatic				GPR135_uc001xed.2_Non-coding_Transcript	p.A356A	NM_022571	NP_072093	WXS	Illumina GAIIx	Phase_I	Q8IZ08	GP135_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.134)	0	1183	-			356					Q7Z604|Q86SM3|Q8NH39	Silent	SNP	ENST00000395116.1	37	c.1068C>T	CCDS9738.1																																																																																				0.667	GPR135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276941.1	NM_022571		5	16	0	0	0	1	0	5	16				
SEZ6L	23544	broad.mit.edu	37	22	26695087	26695087	+	Missense_Mutation	SNP	A	A	C			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr22:26695087A>C	ENST00000248933.6	+	5	1395	c.1300A>C	c.(1300-1302)Atc>Ctc	p.I434L	SEZ6L_ENST00000360929.3_Missense_Mutation_p.I434L|SEZ6L_ENST00000404234.3_Missense_Mutation_p.I434L|SEZ6L_ENST00000529632.2_Missense_Mutation_p.I434L|SEZ6L_ENST00000402979.1_Missense_Mutation_p.I207L|SEZ6L_ENST00000403121.1_Missense_Mutation_p.I207L|SEZ6L_ENST00000343706.4_Missense_Mutation_p.I434L			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	434	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GCTGACATGCATCAATGCCTC	0.597																																						uc003acb.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						c.(1300-1302)Atc>Ctc		Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.							32.0	28.0	29.0					22																	26695087		2203	4300	6503	SO:0001583	missense	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26695087A>C	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.1300A>C	22.37:g.26695087A>C	ENSP00000248933:p.Ile434Leu		Somatic				SEZ6L_uc003acd.3_Missense_Mutation_p.I434L|SEZ6L_uc011akd.2_Missense_Mutation_p.I434L|SEZ6L_uc003ace.3_Missense_Mutation_p.I434L|SEZ6L_uc011akc.2_Missense_Mutation_p.I434L|SEZ6L_uc003acc.3_Missense_Mutation_p.I434L|SEZ6L_uc003acf.1_Missense_Mutation_p.I207L|SEZ6L_uc010gvc.1_Missense_Mutation_p.I207L	p.I434L	NM_021115	NP_066938	WXS	Illumina GAIIx	Phase_I	Q9BYH1	SE6L1_HUMAN			4	1496	+			434			Sushi 1.		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	c.1300A>C	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	A	4.132	0.022750	0.08006	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	T;T;T;T;T;T;T	0.62639	0.01;0.01;0.01;0.01;0.01;0.01;0.01	4.55	3.49	0.39957	Complement control module (2);Sushi/SCR/CCP (3);	0.114934	0.37623	N	0.002004	T	0.22704	0.0548	N	0.00446	-1.495	0.80722	D	1	B;B;B;B;B;B;B	0.15719	0.002;0.001;0.014;0.004;0.002;0.001;0.001	B;B;B;B;B;B;B	0.19666	0.007;0.01;0.026;0.009;0.015;0.01;0.01	T	0.34104	-0.9842	10	0.02654	T	1	.	9.7682	0.40574	0.6637:0.3362:0.0:0.0	.	434;434;207;434;434;434;434	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;.;SE6L1_HUMAN	L	434;434;434;434;434;207;207	ENSP00000384772:I434L;ENSP00000437037:I434L;ENSP00000354185:I434L;ENSP00000248933:I434L;ENSP00000342661:I434L;ENSP00000384838:I207L;ENSP00000384733:I207L	ENSP00000248933:I434L	I	+	1	0	SEZ6L	25025087	1.000000	0.71417	0.997000	0.53966	0.922000	0.55478	2.547000	0.45786	0.749000	0.32854	0.459000	0.35465	ATC		0.597	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			7	25	0	0	0	1	0	7	25				
ELFN2	114794	broad.mit.edu	37	22	37769205	37769205	+	Silent	SNP	G	G	A	rs148494870		TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr22:37769205G>A	ENST00000402918.2	-	3	3155	c.2370C>T	c.(2368-2370)caC>caT	p.H790H	RP1-63G5.8_ENST00000609322.1_RNA|RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000435824.1_5'Flank	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	790					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TGCGCAGGGCGTGACCGGCGG	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		14983	0.0		0.001	False		,,,				2504	0.0					uc003asq.4																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35						c.(2368-2370)caC>caT		Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.		G		0,4406		0,0,2203	97.0	89.0	91.0		2370	2.4	1.0	22	dbSNP_134	91	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	ELFN2	NM_052906.3		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		790/821	37769205	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	114794					cell surface|integral to membrane		g.chr22:37769205G>A	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	29396	protein-coding gene	gene with protein product			"""leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29"""	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.2370C>T	22.37:g.37769205G>A			Somatic				ELFN2_uc021wph.1_Silent_p.H790H	p.H790H	NM_052906	NP_443138	WXS	Illumina GAIIx	Phase_I	Q5R3F8	LRFN6_HUMAN			2	3156	-	Melanoma(58;0.0574)		790					Q96PY3	Silent	SNP	ENST00000402918.2	37	c.2370C>T	CCDS33642.1																																																																																				0.627	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906		44	82	0	0	0	1	0	44	82				
SMCO1	255798	broad.mit.edu	37	3	196235046	196235046	+	Silent	SNP	T	T	C			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr3:196235046T>C	ENST00000397537.2	-	3	513	c.357A>G	c.(355-357)agA>agG	p.R119R		NM_001077657.1	NP_001071125.1	Q147U7	SMCO1_HUMAN	single-pass membrane protein with coiled-coil domains 1	119						integral component of membrane (GO:0016021)											CCCATACAACTCTAACGCGCT	0.483																																						uc003fws.3																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	8						c.(355-357)agA>agG		Homo sapiens chromosome 3 open reading frame 43 (C3orf43), mRNA.							137.0	132.0	133.0					3																	196235046		1983	4160	6143	SO:0001819	synonymous_variant	255798					integral to membrane		g.chr3:196235046T>C	AK123917	CCDS43192.1	3q29	2013-03-08	2013-03-08	2013-03-08	ENSG00000214097	ENSG00000214097			27407	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 43"""	C3orf43			Standard	NM_001077657		Approved	FLJ41923, DKFZp313B0440		Q147U7	OTTHUMG00000155581	ENST00000397537.2:c.357A>G	3.37:g.196235046T>C			Somatic				C3orf43_uc003fwr.3_Silent_p.R111R	p.R119R	NM_001077657	NP_001071125	WXS	Illumina GAIIx	Phase_I	Q147U7	CC043_HUMAN	Epithelial(36;2.13e-23)|all cancers(36;2e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00298)	2	514	-	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		119					B3KW20	Silent	SNP	ENST00000397537.2	37	c.357A>G	CCDS43192.1																																																																																				0.483	SMCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340776.1	NM_001006109		25	73	0	0	0	1	0	25	73				
SLC8A1	6546	broad.mit.edu	37	2	40342768	40342768	+	Splice_Site	SNP	G	G	T			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr2:40342768G>T	ENST00000403092.1	-	11	2580	c.2547C>A	c.(2545-2547)gaC>gaA	p.D849E	SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000542756.1_Splice_Site_p.D844E|SLC8A1_ENST00000405901.3_Splice_Site_p.D844E|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000402441.1_Splice_Site_p.D813E|SLC8A1_ENST00000542024.1_Splice_Site_p.D813E|SLC8A1_ENST00000332839.4_Splice_Site_p.D849E|SLC8A1_ENST00000406391.2_Splice_Site_p.D813E|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000406785.2_Splice_Site_p.D813E|SLC8A1_ENST00000408028.2_Splice_Site_p.D841E|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000405269.1_Splice_Site_p.D813E|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	849					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TGGCAAATGTGTCTGCAGAGG	0.507																																						uc002rrx.3																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.e10-1		Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						66.0	68.0	67.0					2																	40342768		2203	4300	6503	SO:0001630	splice_region_variant	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40342768G>T		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.2546-1C>A	2.37:g.40342768G>T			Somatic				LOC100128590_uc002rrw.3_Intron|SLC8A1_uc002rry.3_Splice_Site_p.D844_splice|SLC8A1_uc002rsb.2_Splice_Site_p.D841_splice|SLC8A1_uc002rrz.3_Splice_Site_p.D836_splice|SLC8A1_uc002rsa.3_Splice_Site_p.D813_splice|SLC8A1_uc002rsd.4_Splice_Site_p.D813_splice	p.D849_splice	NM_021097	NP_066920	WXS	Illumina GAIIx	Phase_I	P32418	NAC1_HUMAN			10	2570	-			849					A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Splice_Site	SNP	ENST00000403092.1	37	c.2546_splice	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.999305	0.54147	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49	5.87	3.14	0.36123	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	T	0.59514	0.2199	L	0.39467	1.215	0.58432	D	0.999997	P;D;D;D	0.89917	0.902;1.0;1.0;1.0	P;D;D;D	0.81914	0.893;0.981;0.993;0.995	T	0.58244	-0.7670	10	0.87932	D	0	.	7.9687	0.30115	0.3101:0.0:0.6899:0.0	.	813;836;844;849	P32418-2;P32418-3;F6VPY9;P32418	.;.;.;NAC1_HUMAN	E	813;849;844;849;844;813;813;849;841;836;813;813	ENSP00000383886:D813E;ENSP00000440727:D844E;ENSP00000384763:D849E;ENSP00000385678:D844E;ENSP00000385188:D813E;ENSP00000385535:D813E;ENSP00000332931:D849E;ENSP00000384908:D841E;ENSP00000385811:D813E;ENSP00000443515:D813E	ENSP00000332931:D849E	D	-	3	2	SLC8A1	40196272	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	2.414000	0.44627	0.410000	0.25675	0.655000	0.94253	GAC		0.507	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097	Missense_Mutation	16	49	0	0	0	1	0	16	49				
ALB	213	broad.mit.edu	37	4	74274412	74274412	+	Missense_Mutation	SNP	A	A	T			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr4:74274412A>T	ENST00000295897.4	+	4	461	c.372A>T	c.(370-372)gaA>gaT	p.E124D	ALB_ENST00000503124.1_Intron|ALB_ENST00000401494.3_Intron|ALB_ENST00000509063.1_Missense_Mutation_p.E124D|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000415165.2_Intron	NM_000477.5	NP_000468.1	Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGAGAAATGAATGCTTCTTGC	0.433																																						uc003hgs.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48						c.(370-372)gaA>gaT		Homo sapiens albumin (ALB), mRNA.	Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)						96.0	90.0	92.0					4																	74274412		2203	4300	6503	SO:0001583	missense	213				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	g.chr4:74274412A>T	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000295897.4:c.372A>T	4.37:g.74274412A>T	ENSP00000295897:p.Glu124Asp		Somatic				ALB_uc011cbe.2_Intron|ALB_uc003hgw.4_Intron|ALB_uc011cbf.2_Missense_Mutation_p.E14D	p.E124D	NM_000477	NP_000468	WXS	Illumina GAIIx	Phase_I	P02768	ALBU_HUMAN	Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		3	445	+	Breast(15;0.00102)		124			Albumin 1.		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000295897.4	37	c.372A>T	CCDS3555.1	.	.	.	.	.	.	.	.	.	.	A	14.90	2.672162	0.47781	.	.	ENSG00000163631	ENST00000441319;ENST00000295897;ENST00000329326;ENST00000509063;ENST00000430202	T;T;T	0.73681	-0.77;-0.77;-0.77	6.04	-12.1	0.00011	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.745812	0.12785	N	0.439375	T	0.65626	0.2709	M	0.72118	2.19	0.58432	D	0.999998	B;B	0.14805	0.011;0.011	B;B	0.24155	0.019;0.051	T	0.56214	-0.8016	10	0.87932	D	0	-15.4278	11.339	0.49523	0.1662:0.0803:0.5954:0.1581	.	124;124	A6NBZ8;P02768	.;ALBU_HUMAN	D	126;124;124;124;133	ENSP00000392541:E126D;ENSP00000295897:E124D;ENSP00000422784:E124D	ENSP00000295897:E124D	E	+	3	2	ALB	74493276	0.000000	0.05858	0.000000	0.03702	0.408000	0.30992	-3.822000	0.00357	-3.026000	0.00268	-0.468000	0.05107	GAA		0.433	ALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252173.3	NM_000477		14	35	0	0	0	1	0	14	35				
MEF2B	100271849	broad.mit.edu	37	19	19258532	19258532	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr19:19258532G>A	ENST00000602424.2	-	6	1094	c.368C>T	c.(367-369)cCg>cTg	p.P123L	MEF2BNB-MEF2B_ENST00000602276.1_5'UTR|MEF2B_ENST00000424583.2_Missense_Mutation_p.P123L|MEF2B_ENST00000410050.1_Missense_Mutation_p.P123L|MEF2B_ENST00000409447.2_Missense_Mutation_p.P123L|MEF2BNB-MEF2B_ENST00000514819.3_Missense_Mutation_p.P140L|MEF2B_ENST00000162023.5_Missense_Mutation_p.P123L|MEF2BNB-MEF2B_ENST00000444486.3_Missense_Mutation_p.P123L|MEF2B_ENST00000409224.1_Missense_Mutation_p.P126L	NM_005919.3	NP_005910.1	Q02080	MEF2B_HUMAN	myocyte enhancer factor 2B	123					muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			GGGCAAGGCCGGATCACCCCC	0.627																																						uc002nll.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28						c.(367-369)cCg>cTg		Homo sapiens myocyte enhancer factor 2B (MEF2B), mRNA.							67.0	68.0	68.0					19																	19258532		2203	4300	6503	SO:0001583	missense	100271849							g.chr19:19258532G>A	X63380	CCDS12394.1, CCDS46024.1	19p13.11	2010-05-12	2007-04-24					"""Myocyte enhancer factors"""	6995	protein-coding gene	gene with protein product		600661				1516833, 8575763	Standard	NM_001145785		Approved	RSRFR2	uc002nll.2	Q02080		ENST00000602424.2:c.368C>T	19.37:g.19258532G>A	ENSP00000473308:p.Pro123Leu		Somatic				MEF2B_uc010xqo.1_Missense_Mutation_p.P123L|MEF2B_uc002nlp.2_Missense_Mutation_p.P123L|MEF2B_uc010xqp.1_Missense_Mutation_p.P123L|MEF2B_uc002nlo.2_Missense_Mutation_p.P123L|MEF2B_uc002nlk.2_Missense_Mutation_p.P126L	p.P123L	NM_001145785	NP_001139257	WXS	Illumina GAIIx	Phase_I			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)		3	482	-								A0AV80|B4DVH7|B7ZVY1|G5E9M1	Missense_Mutation	SNP	ENST00000602424.2	37	c.368C>T	CCDS12394.1	.	.	.	.	.	.	.	.	.	.	G	5.079	0.200243	0.09652	.	.	ENSG00000213999	ENST00000409224;ENST00000424583;ENST00000410050;ENST00000444486;ENST00000409447;ENST00000162023	D;D;D;D;D	0.85861	-2.04;-2.02;-1.87;-2.01;-2.02	5.15	2.8	0.32819	.	0.629540	0.15163	N	0.277044	T	0.63355	0.2504	N	0.04880	-0.145	0.35343	D	0.786665	B;B;B;B;B	0.15930	0.012;0.015;0.005;0.01;0.006	B;B;B;B;B	0.10450	0.005;0.003;0.002;0.003;0.001	T	0.57751	-0.7757	10	0.07990	T	0.79	-4.8687	5.3856	0.16216	0.2963:0.0:0.7037:0.0	.	123;170;123;123;126	Q02080;B8ZZJ5;C9J4J4;G5E9M1;B3KQ23	MEF2B_HUMAN;.;.;.;.	L	126;123;123;123;170;123	ENSP00000386480:P126L;ENSP00000402154:P123L;ENSP00000386374:P123L;ENSP00000390762:P123L;ENSP00000162023:P123L	ENSP00000162023:P123L	P	-	2	0	MEF2B	19119532	0.995000	0.38212	0.998000	0.56505	0.966000	0.64601	3.177000	0.50871	1.139000	0.42245	0.561000	0.74099	CCG		0.627	MEF2B-202	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_005919		3	114	0	0	0	1	0	3	114				
ETS1	2113	broad.mit.edu	37	11	128332410	128332410	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr11:128332410C>T	ENST00000319397.6	-	8	1481	c.1172G>A	c.(1171-1173)cGt>cAt	p.R391H	ETS1_ENST00000345075.4_Missense_Mutation_p.R304H|ETS1_ENST00000526145.2_Missense_Mutation_p.R304H|ETS1_ENST00000392668.4_Missense_Mutation_p.R435H|ETS1_ENST00000535549.1_Missense_Mutation_p.R175H|ETS1_ENST00000531611.1_3'UTR	NM_005238.3	NP_005229.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	391					angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		GCGTAGGCCACGGCTCAGTTT	0.458																																						uc001qej.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35						c.(1303-1305)cGt>cAt		Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog 1 (avian) (ETS1), transcript variant 1, mRNA.							199.0	157.0	171.0					11																	128332410		2201	4297	6498	SO:0001583	missense	2113				PML body organization|cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr11:128332410C>T		CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"""Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1"", ""ets protein"""	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000319397.6:c.1172G>A	11.37:g.128332410C>T	ENSP00000324578:p.Arg391His		Somatic				ETS1_uc010sbs.1_Missense_Mutation_p.R391H|ETS1_uc009zch.2_Missense_Mutation_p.R175H|ETS1_uc009zcg.2_3'UTR	p.R435H	NM_001143820	NP_001137292	WXS	Illumina GAIIx	Phase_I	P14921	ETS1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)	9	1389	-	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)	391					A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Missense_Mutation	SNP	ENST00000319397.6	37	c.1304G>A	CCDS8475.1	.	.	.	.	.	.	.	.	.	.	C	35	5.416038	0.96092	.	.	ENSG00000134954	ENST00000345075;ENST00000535549;ENST00000392668;ENST00000319397;ENST00000526145	T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42	5.96	5.96	0.96718	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (5);	0.051447	0.85682	D	0.000000	T	0.69646	0.3134	H	0.94462	3.54	0.80722	D	1	D;D;D	0.89917	0.991;1.0;1.0	P;D;D	0.97110	0.842;0.999;1.0	T	0.77427	-0.2592	10	0.87932	D	0	.	20.4043	0.99006	0.0:1.0:0.0:0.0	.	391;175;435	P14921;F5GYX9;Q6N087	ETS1_HUMAN;.;.	H	304;175;435;391;304	ENSP00000340485:R304H;ENSP00000441430:R175H;ENSP00000376436:R435H;ENSP00000324578:R391H;ENSP00000433500:R304H	ENSP00000324578:R391H	R	-	2	0	ETS1	127837620	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.823000	0.97156	0.650000	0.86243	CGT		0.458	ETS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386269.2	NM_005238		21	42	0	0	0	1	0	21	42				
ELMO3	79767	broad.mit.edu	37	16	67237636	67237636	+	Silent	SNP	G	G	A			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr16:67237636G>A	ENST00000360833.1	+	19	2184	c.2127G>A	c.(2125-2127)ctG>ctA	p.L709L	MIR328_ENST00000385213.1_RNA|ELMO3_ENST00000477898.1_Silent_p.L560L|ELMO3_ENST00000393997.2_Silent_p.L726L			Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	673					apoptotic process (GO:0006915)|phagocytosis (GO:0006909)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		AGACACGGCTGGACCTGGAGC	0.672																																						uc002esa.3																			0				cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18						c.(2176-2178)ctG>ctA		Homo sapiens engulfment and cell motility 3 (ELMO3), mRNA.							39.0	46.0	44.0					16																	67237636		2139	4232	6371	SO:0001819	synonymous_variant	79767				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding	g.chr16:67237636G>A		CCDS10833.2	16q22.1	2010-03-18	2006-01-20		ENSG00000102890	ENSG00000102890		"""Engulfment and cell motility proteins"""	17289	protein-coding gene	gene with protein product		606422	"""engulfment and cell motility 3 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_024712		Approved	FLJ13824, CED12, ELMO-3, CED-12	uc002esa.3	Q96BJ8	OTTHUMG00000133570	ENST00000360833.1:c.2127G>A	16.37:g.67237636G>A			Somatic				ELMO3_uc002esb.3_Silent_p.L709L|ELMO3_uc002esc.3_Silent_p.L560L|MIR328_uc010vjf.1_5'Flank	p.L726L	NM_024712	NP_078988	WXS	Illumina GAIIx	Phase_I	Q96BJ8	ELMO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)	19	2221	+		Ovarian(137;0.0563)	673					B4DV86|Q9H8A5	Silent	SNP	ENST00000360833.1	37	c.2178G>A																																																																																					0.672	ELMO3-001	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000257667.2	NM_024712		4	139	0	0	0	1	0	4	139				
RANBP3	8498	broad.mit.edu	37	19	5915243	5915243	+	IGR	SNP	G	G	A	rs371122890		TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr19:5915243G>A	ENST00000340578.6	-	0	3233				AC104532.4_ENST00000591109.1_RNA|CAPS_ENST00000588776.1_Silent_p.A246A|CAPS_ENST00000452990.2_Silent_p.A133A|CAPS_ENST00000222125.5_Silent_p.A160A	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3						intracellular transport (GO:0046907)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	R-SMAD binding (GO:0070412)|Ran GTPase binding (GO:0008536)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						TCACACTGGCGGAATTCCAGG	0.667																																						uc002mdt.3																			0				cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	4						c.(478-480)gcG>gcA		Homo sapiens calcyphosine (CAPS), transcript variant 1, mRNA.		G	,	0,4406		0,0,2203	73.0	65.0	68.0		480,399	-11.2	0.0	19		68	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CAPS	NM_004058.3,NM_080590.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	160/190,133/163	5915243	1,13005	2203	4300	6503	SO:0001628	intergenic_variant	828				intracellular signal transduction	cytoplasm	calcium ion binding	g.chr19:5915243G>A	Y08698	CCDS42477.1, CCDS42478.1, CCDS45935.1, CCDS74268.1	19p13.3	2008-02-05							9850	protein-coding gene	gene with protein product		603327				9637251	Standard	NM_007322		Approved		uc002mdw.3	Q9H6Z4			19.37:g.5915243G>A			Somatic				CAPS_uc002mdu.3_Silent_p.A133A	p.A160A	NM_004058	NP_004049	WXS	Illumina GAIIx	Phase_I	Q13938	CAYP1_HUMAN			4	630	+			160			EF-hand 4.		B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Silent	SNP	ENST00000340578.6	37	c.480G>A	CCDS42478.1																																																																																				0.667	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452304.1	NM_007322		18	37	0	0	0	1	0	18	37				
STOML2	30968	broad.mit.edu	37	9	35102741	35102741	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr9:35102741G>A	ENST00000356493.5	-	2	187	c.125C>T	c.(124-126)cCg>cTg	p.P42L	STOML2_ENST00000452248.2_Missense_Mutation_p.P42L|STOML2_ENST00000487490.1_5'Flank	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	42					CD4-positive, alpha-beta T cell activation (GO:0035710)|cellular calcium ion homeostasis (GO:0006874)|interleukin-2 production (GO:0032623)|lipid localization (GO:0010876)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|mitochondrial calcium ion transport (GO:0006851)|mitochondrial protein processing (GO:0034982)|mitochondrion organization (GO:0007005)|positive regulation of cardiolipin metabolic process (GO:1900210)|positive regulation of mitochondrial DNA replication (GO:0090297)|positive regulation of mitochondrial membrane potential (GO:0010918)|protein oligomerization (GO:0051259)|stress-induced mitochondrial fusion (GO:1990046)|T cell receptor signaling pathway (GO:0050852)	cytoskeleton (GO:0005856)|extrinsic component of plasma membrane (GO:0019897)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)	cardiolipin binding (GO:1901612)|receptor binding (GO:0005102)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CTCCTGCTGCGGCACGAACAG	0.642																																						uc003zwi.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16						c.(124-126)cCg>cTg		Homo sapiens stomatin (EPB72)-like 2 (STOML2), mRNA.							59.0	66.0	64.0					9																	35102741		2203	4300	6503	SO:0001583	missense	30968					cytoskeleton	receptor binding	g.chr9:35102741G>A	AF190167	CCDS6577.1, CCDS69588.1, CCDS75830.1	9p13.1	2008-02-05			ENSG00000165283	ENSG00000165283			14559	protein-coding gene	gene with protein product		608292				10713127, 17121834	Standard	NM_001287031		Approved	SLP-2, HSPC108	uc003zwi.3	Q9UJZ1	OTTHUMG00000019851	ENST00000356493.5:c.125C>T	9.37:g.35102741G>A	ENSP00000348886:p.Pro42Leu		Somatic				STOML2_uc011lou.2_Missense_Mutation_p.P42L	p.P42L	NM_013442	NP_038470	WXS	Illumina GAIIx	Phase_I	Q9UJZ1	STML2_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		1	188	-			42					B4E1K7|D3DRN3|O60376|Q53G29|Q96FY2|Q9P042	Missense_Mutation	SNP	ENST00000356493.5	37	c.125C>T	CCDS6577.1	.	.	.	.	.	.	.	.	.	.	G	37	5.997984	0.97184	.	.	ENSG00000165283	ENST00000356493;ENST00000452248	D;D	0.95035	-3.59;-3.59	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.98235	0.9416	H	0.95745	3.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.978;1.0	D	0.98971	1.0801	10	0.87932	D	0	-25.8155	19.0059	0.92851	0.0:0.0:1.0:0.0	.	42;42	B4E1K7;Q9UJZ1	.;STML2_HUMAN	L	42	ENSP00000348886:P42L;ENSP00000395743:P42L	ENSP00000348886:P42L	P	-	2	0	STOML2	35092741	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.226000	0.95229	2.826000	0.97356	0.561000	0.74099	CCG		0.642	STOML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052273.1	NM_013442		52	111	0	0	0	1	0	52	111				
TMEM50B	757	broad.mit.edu	37	21	34839360	34839360	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr21:34839360C>A	ENST00000542230.2	-	3	383	c.169G>T	c.(169-171)Gcc>Tcc	p.A57S	AP000301.1_ENST00000581654.1_RNA	NM_006134.6	NP_006125.2	P56557	TM50B_HUMAN	transmembrane protein 50B	57						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|ovary(1)|skin(1)	4						GTGTGAAAGGCATGGTTCAAC	0.368																																						uc002yrs.2																			0				breast(1)|kidney(1)|ovary(1)|skin(1)	4								Homo sapiens transmembrane protein 50B (TMEM50B), transcript variant 1, mRNA.							146.0	132.0	137.0					21																	34839360		2203	4300	6503	SO:0001583	missense	757					endoplasmic reticulum|integral to membrane|plasma membrane		g.chr21:34839360C>A	AF045606	CCDS13625.1	21q22.1	2008-07-29	2005-06-02	2005-06-02	ENSG00000142188	ENSG00000142188			1280	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 4"""	C21orf4			Standard	NR_040016		Approved		uc002yrs.2	P56557	OTTHUMG00000065286	ENST00000542230.2:c.169G>T	21.37:g.34839360C>A	ENSP00000439768:p.Ala57Ser		Somatic				TMEM50B_uc010gmb.2_Non-coding_Transcript		NM_006134		WXS	Illumina GAIIx	Phase_I	P56557	TM50B_HUMAN			2		-								B2R4L4|D3DSF1|O60537|Q5PY47	RNA	SNP	ENST00000542230.2	37	c.382G>T	CCDS13625.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.804956	0.50315	.	.	ENSG00000142188	ENST00000542230;ENST00000440644;ENST00000432504;ENST00000435619	T;T	0.30448	1.53;1.53	5.62	4.74	0.60224	.	0.177614	0.48286	D	0.000194	T	0.24661	0.0598	L	0.35249	1.045	0.58432	D	0.999999	B	0.27700	0.186	B	0.33121	0.158	T	0.03576	-1.1023	10	0.12103	T	0.63	-11.8283	13.255	0.60073	0.0:0.9224:0.0:0.0776	.	57	P56557	TM50B_HUMAN	S	57	ENSP00000439768:A57S;ENSP00000387622:A57S	ENSP00000371390:A57S	A	-	1	0	TMEM50B	33761230	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	4.298000	0.59067	1.379000	0.46325	0.549000	0.68633	GCC		0.368	TMEM50B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140080.5			3	101	0	0	0	1	0	3	101				
FLNC	2318	broad.mit.edu	37	7	128494189	128494189	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr7:128494189G>A	ENST00000325888.8	+	40	6907	c.6646G>A	c.(6646-6648)Gac>Aac	p.D2216N	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.D2183N	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2216	Intradomain insert; mediate targeting to Z lines.				cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GGTCGGCGGGGACCCCTTCCC	0.697																																						uc003vnz.4																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(6646-6648)Gac>Aac		Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.							21.0	28.0	26.0					7																	128494189		1987	4140	6127	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128494189G>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.6646G>A	7.37:g.128494189G>A	ENSP00000327145:p.Asp2216Asn		Somatic				FLNC_uc003voa.4_Missense_Mutation_p.D2183N	p.D2216N	NM_001458	NP_001449	WXS	Illumina GAIIx	Phase_I	Q14315	FLNC_HUMAN			39	6855	+			2216			Intradomain insert.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.6646G>A	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.176343	0.78564	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.85556	-2.0;-2.0	5.64	5.64	0.86602	.	0.142156	0.49916	D	0.000131	T	0.73598	0.3607	N	0.08118	0	0.52501	D	0.99995	B;B	0.33238	0.403;0.244	B;B	0.30855	0.121;0.018	T	0.76629	-0.2889	10	0.72032	D	0.01	.	17.1975	0.86897	0.0:0.0:1.0:0.0	.	2183;2216	Q14315-2;Q14315	.;FLNC_HUMAN	N	2216;2183	ENSP00000327145:D2216N;ENSP00000344002:D2183N	ENSP00000327145:D2216N	D	+	1	0	FLNC	128281425	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	6.140000	0.71738	2.655000	0.90218	0.655000	0.94253	GAC		0.697	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			30	38	0	0	0	1	0	30	38				
GPT	2875	broad.mit.edu	37	8	145730778	145730778	+	Silent	SNP	G	G	A			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr8:145730778G>A	ENST00000528431.1	+	6	802	c.645G>A	c.(643-645)gcG>gcA	p.A215A	GPT_ENST00000394955.2_Silent_p.A215A			P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	215					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|Phenelzine(DB00780)	GTGCCTGGGCGCTGGACGTGG	0.672																																						uc003zdh.4																			0				central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5						c.(643-645)gcG>gcA		Homo sapiens glutamic-pyruvate transaminase (alanine aminotransferase) (GPT), mRNA.	L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						31.0	25.0	27.0					8																	145730778		2182	4285	6467	SO:0001819	synonymous_variant	2875				gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr8:145730778G>A		CCDS6430.1	8q24.3	2013-09-19			ENSG00000167701	ENSG00000167701	2.6.1.2		4552	protein-coding gene	gene with protein product		138200					Standard	NM_005309		Approved	ALT1, GPT1	uc003zdh.4	P24298	OTTHUMG00000165176	ENST00000528431.1:c.645G>A	8.37:g.145730778G>A			Somatic				GPT_uc011llj.1_Silent_p.A215A	p.A215A	NM_005309	NP_005300	WXS	Illumina GAIIx	Phase_I	P24298	ALAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		4	868	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		215					B0YJ18|D3DWM7|P78398|Q93076	Silent	SNP	ENST00000528431.1	37	c.645G>A	CCDS6430.1																																																																																				0.672	GPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382471.1			3	39	0	0	0	1	0	3	39				
SLC25A33	84275	broad.mit.edu	37	1	9642501	9642501	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr1:9642501C>T	ENST00000302692.6	+	7	1118	c.908C>T	c.(907-909)gCc>gTc	p.A303V		NM_032315.2	NP_115691.1	Q9BSK2	S2533_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier), member 33	303					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)		CCAAATACTGCCATTGTGTTG	0.453																																						uc001apw.3																			0				endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9						c.(907-909)gCc>gTc		Homo sapiens solute carrier family 25, member 33 (SLC25A33), nuclear gene encoding mitochondrial protein, mRNA.							64.0	58.0	60.0					1																	9642501		2203	4300	6503	SO:0001583	missense	84275				transport	integral to membrane|mitochondrial inner membrane		g.chr1:9642501C>T	AF495714	CCDS103.1	1p36.22	2013-05-22	2012-03-29		ENSG00000171612	ENSG00000171612		"""Solute carriers"""	29681	protein-coding gene	gene with protein product		610816	"""solute carrier family 25, member 33"""			14715278, 16949250	Standard	XM_005263503		Approved	MGC4399, BMSC-MCP, PNC1	uc001apw.3	Q9BSK2	OTTHUMG00000001322	ENST00000302692.6:c.908C>T	1.37:g.9642501C>T	ENSP00000306328:p.Ala303Val		Somatic					p.A303V	NM_032315	NP_115691	WXS	Illumina GAIIx	Phase_I	Q9BSK2	S2533_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)	6	1131	+	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	303						Missense_Mutation	SNP	ENST00000302692.6	37	c.908C>T	CCDS103.1	.	.	.	.	.	.	.	.	.	.	C	33	5.227479	0.95173	.	.	ENSG00000171612	ENST00000302692	D	0.81908	-1.55	5.98	5.98	0.97165	Mitochondrial carrier domain (2);	0.211314	0.49305	D	0.000141	D	0.90397	0.6994	M	0.77313	2.365	0.80722	D	1	D	0.61697	0.99	D	0.63283	0.913	D	0.87709	0.2565	10	0.29301	T	0.29	-12.3981	19.4463	0.94849	0.0:1.0:0.0:0.0	.	303	Q9BSK2	S2533_HUMAN	V	303	ENSP00000306328:A303V	ENSP00000306328:A303V	A	+	2	0	SLC25A33	9565088	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.835000	0.97688	0.650000	0.86243	GCC		0.453	SLC25A33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003851.2	NM_032315		7	20	0	0	0	1	0	7	20				
AP5Z1	9907	broad.mit.edu	37	7	4830986	4830986	+	Silent	SNP	G	G	T			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr7:4830986G>T	ENST00000348624.4	+	17	2488	c.2394G>T	c.(2392-2394)gtG>gtT	p.V798V	MIR4656_ENST00000579503.1_RNA|AP5Z1_ENST00000490487.1_3'UTR	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	798					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)											GCCGGCTGGTGGAGAGGGAGG	0.667																																						uc003sne.3																			0											c.(2392-2394)gtG>gtT		Homo sapiens KIAA0415 (KIAA0415), mRNA.							15.0	19.0	18.0					7																	4830986		2014	4177	6191	SO:0001819	synonymous_variant	9907				cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding	g.chr7:4830986G>T	AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"""KIAA0415"""	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.2394G>T	7.37:g.4830986G>T			Somatic				AP5Z1_uc010ksp.3_Non-coding_Transcript|AP5Z1_uc003snf.3_Silent_p.V275V|MIR4656_uc021zzb.1_5'Flank	p.V798V	NM_014855	NP_055670	WXS	Illumina GAIIx	Phase_I	O43299	K0415_HUMAN			16	2479	+			798					Q8N3X2|Q96H80	Silent	SNP	ENST00000348624.4	37	c.2394G>T	CCDS47528.1																																																																																				0.667	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323771.1			18	28	0	0	0	1	0	18	28				
GJA8	2703	broad.mit.edu	37	1	147380580	147380580	+	Silent	SNP	C	C	A			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr1:147380580C>A	ENST00000369235.1	+	1	498	c.498C>A	c.(496-498)atC>atA	p.I166I	GJA8_ENST00000240986.4_Silent_p.I166I			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	166					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					TGGGCTTCATCGTGGGCCACT	0.607																																					Melanoma(76;1255 1795 8195 52096)	uc001epu.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37						c.(496-498)atC>atA		Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.							117.0	113.0	114.0					1																	147380580		2203	4300	6503	SO:0001819	synonymous_variant	2703				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	g.chr1:147380580C>A	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"""Ion channels / Gap junction proteins (connexins)"""	4281	protein-coding gene	gene with protein product	"""connexin 50"""	600897	"""gap junction protein, alpha 8, 50kD (connexin 50)"", ""gap junction protein, alpha 8, 50kDa (connexin 50)"""	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.498C>A	1.37:g.147380580C>A			Somatic				GJA8_uc021ovm.1_Silent_p.I166I	p.I166I	NM_005267	NP_005258	WXS	Illumina GAIIx	Phase_I	P48165	CXA8_HUMAN			1	551	+	all_hematologic(923;0.0276)		166					A7L5M5|Q5VVN9|Q9NP25	Silent	SNP	ENST00000369235.1	37	c.498C>A	CCDS30834.1																																																																																				0.607	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		101	144	0	0	0	1	0	101	144				
VWA2	340706	broad.mit.edu	37	10	116045883	116045883	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr10:116045883G>A	ENST00000392982.3	+	11	1433	c.1183G>A	c.(1183-1185)Gtg>Atg	p.V395M	VWA2_ENST00000603594.1_Missense_Mutation_p.V395M			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	395	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium-independent cell-matrix adhesion (GO:0007161)|protein homooligomerization (GO:0051260)|regulation of insulin receptor signaling pathway (GO:0046626)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		GCTGGTGGCGGTGCCTGTGGG	0.662																																						uc001lbl.1																			0		p.A394V(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26						c.(1183-1185)Gtg>Atg		Homo sapiens von Willebrand factor A domain containing 2 (VWA2), mRNA.							78.0	74.0	75.0					10																	116045883		2203	4300	6503	SO:0001583	missense	340706					extracellular region		g.chr10:116045883G>A	AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816			24709	protein-coding gene	gene with protein product						15580307, 14506275	Standard	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.1183G>A	10.37:g.116045883G>A	ENSP00000376708:p.Val395Met		Somatic				VWA2_uc001lbk.1_Missense_Mutation_p.V395M|VWA2_uc009xyf.1_Missense_Mutation_p.V91M	p.V395M	NM_198496	NP_940898	WXS	Illumina GAIIx	Phase_I	Q5GFL6	VWA2_HUMAN		Epithelial(162;0.036)|all cancers(201;0.0793)	10	1504	+			395			VWFA 2.		A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Missense_Mutation	SNP	ENST00000392982.3	37	c.1183G>A		.	.	.	.	.	.	.	.	.	.	G	14.13	2.444847	0.43429	.	.	ENSG00000165816	ENST00000392982;ENST00000298715	D	0.85013	-1.93	5.6	4.69	0.59074	von Willebrand factor, type A (3);	0.143356	0.46442	D	0.000283	D	0.91078	0.7192	M	0.77616	2.38	0.27933	N	0.937803	D;D;D	0.71674	0.998;0.993;0.997	D;D;D	0.69142	0.962;0.947;0.948	D	0.85517	0.1201	10	0.87932	D	0	.	12.5014	0.55957	0.1328:0.0:0.8672:0.0	.	91;395;395	Q5GFL6-3;Q5GFL6;Q5GFL6-2	.;VWA2_HUMAN;.	M	395	ENSP00000376708:V395M	ENSP00000298715:V395M	V	+	1	0	VWA2	116035873	0.990000	0.36364	0.952000	0.39060	0.036000	0.12997	2.004000	0.40854	2.625000	0.88918	0.563000	0.77884	GTG		0.662	VWA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050456.3	NM_198496		4	177	0	0	0	1	0	4	177				
EFNB1	1947	broad.mit.edu	37	X	68060182	68060182	+	Silent	SNP	G	G	A			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chrX:68060182G>A	ENST00000204961.4	+	5	1506	c.726G>A	c.(724-726)gcG>gcA	p.A242A		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	242					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|embryonic pattern specification (GO:0009880)|ephrin receptor signaling pathway (GO:0048013)|neural crest cell migration (GO:0001755)|positive regulation of T cell proliferation (GO:0042102)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ephrin receptor binding (GO:0046875)			breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						CATTGTTCGCGGCTGTCGGTG	0.587																																						uc004dxe.2																			0		p.A242T(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						c.(724-726)gcG>gcA		Homo sapiens ephrin-B1 (EFNB1), mRNA.							56.0	57.0	56.0					X																	68060182		2203	4300	6503	SO:0001819	synonymous_variant	1947				cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding	g.chrX:68060182G>A	U09303	CCDS14391.1	Xq12	2011-03-09			ENSG00000090776	ENSG00000090776		"""Ephrins"""	3226	protein-coding gene	gene with protein product		300035	"""craniofrontonasal syndrome (craniofrontonasal dysplasia)"""	EPLG2, CFNS		7774950, 16526919	Standard	NM_004429		Approved	LERK2, Elk-L	uc004dxd.4	P98172	OTTHUMG00000021751	ENST00000204961.4:c.726G>A	X.37:g.68060182G>A			Somatic				EFNB1_uc004dxd.4_Silent_p.A242A	p.A242A	NM_004429	NP_004420	WXS	Illumina GAIIx	Phase_I	P98172	EFNB1_HUMAN			4	1506	+			242					D3DVU0	Silent	SNP	ENST00000204961.4	37	c.726G>A	CCDS14391.1																																																																																				0.587	EFNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057029.1	NM_004429		9	36	0	0	0	1	0	9	36				
NTRK3	4916	broad.mit.edu	37	15	88679156	88679156	+	Missense_Mutation	SNP	T	T	G	rs372972530		TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr15:88679156T>G	ENST00000360948.2	-	8	1042	c.881A>C	c.(880-882)aAt>aCt	p.N294T	NTRK3_ENST00000558676.1_Missense_Mutation_p.N294T|NTRK3_ENST00000394480.2_Missense_Mutation_p.N294T|NTRK3_ENST00000542733.2_Missense_Mutation_p.N196T|NTRK3_ENST00000557856.1_Missense_Mutation_p.N294T|NTRK3_ENST00000355254.2_Missense_Mutation_p.N294T|NTRK3_ENST00000357724.2_Missense_Mutation_p.N294T|NTRK3_ENST00000540489.2_Missense_Mutation_p.N294T|NTRK3_ENST00000317501.3_Missense_Mutation_p.N294T	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	294	Ig-like C2-type 1.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			AACACTGGCATTGCTCATGCC	0.542			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																												uc002bme.2				Dom	yes		15	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""			"""E, M"""	ETV6		"""congenital fibrosarcoma, Secretory breast """	ETV6/NTRK3(238)	0				breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119						c.(880-882)aAt>aCt		Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.							208.0	129.0	156.0					15																	88679156		2201	4299	6500	SO:0001583	missense	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88679156T>G	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.881A>C	15.37:g.88679156T>G	ENSP00000354207:p.Asn294Thr	TSP Lung(13;0.10)	Somatic				NTRK3_uc002bmh.2_Missense_Mutation_p.N294T|NTRK3_uc002bmf.2_Missense_Mutation_p.N294T|NTRK3_uc021sua.1_Missense_Mutation_p.N294T|NTRK3_uc010upl.1_Missense_Mutation_p.N196T|NTRK3_uc010bnh.1_Missense_Mutation_p.N294T|NTRK3_uc002bmg.3_Missense_Mutation_p.N294T	p.N294T	NM_001012338	NP_001012338	WXS	Illumina GAIIx	Phase_I	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		8	1187	-			294			Ig-like C2-type 1.		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	c.881A>C	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	T	17.47	3.396473	0.62177	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000540489;ENST00000317501	T;T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	5.51	4.36	0.52297	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.089884	0.85682	N	0.000000	T	0.61388	0.2343	N	0.25144	0.715	0.52099	D	0.999949	P;P;B;D;P;B	0.62365	0.84;0.811;0.142;0.991;0.814;0.071	P;B;B;P;B;B	0.57720	0.474;0.433;0.216;0.826;0.38;0.065	T	0.63462	-0.6632	10	0.59425	D	0.04	.	11.5562	0.50750	0.0:0.0:0.1501:0.8499	.	196;294;294;294;294;294	B7Z7U4;E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;.;NTRK3_HUMAN	T	294;294;294;294;196;294;294	ENSP00000377990:N294T;ENSP00000354207:N294T;ENSP00000350356:N294T;ENSP00000347397:N294T;ENSP00000437773:N196T;ENSP00000444673:N294T;ENSP00000318328:N294T	ENSP00000318328:N294T	N	-	2	0	NTRK3	86480160	1.000000	0.71417	0.990000	0.47175	0.947000	0.59692	7.853000	0.86934	0.895000	0.36342	0.460000	0.39030	AAT		0.542	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				33	63	0	0	0	1	0	33	63				
LRP1	4035	broad.mit.edu	37	12	57553705	57553705	+	Silent	SNP	G	G	A			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr12:57553705G>A	ENST00000243077.3	+	12	2362	c.1896G>A	c.(1894-1896)ctG>ctA	p.L632L		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	632					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGGCCAGGCTGGAGAAAGCTG	0.567																																						uc001snd.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(1894-1896)ctG>ctA		Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						125.0	106.0	112.0					12																	57553705		2203	4300	6503	SO:0001819	synonymous_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57553705G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.1896G>A	12.37:g.57553705G>A			Somatic					p.L632L	NM_002332	NP_002323	WXS	Illumina GAIIx	Phase_I	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	11	2362	+			632					Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.1896G>A	CCDS8932.1																																																																																				0.567	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		3	130	0	0	0	1	0	3	130				
KIAA1109	84162	broad.mit.edu	37	4	123185435	123185435	+	Silent	SNP	C	C	T			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr4:123185435C>T	ENST00000264501.4	+	45	7543	c.7170C>T	c.(7168-7170)ccC>ccT	p.P2390P	KIAA1109_ENST00000455637.1_Silent_p.P2390P|KIAA1109_ENST00000388738.3_Silent_p.P2390P			Q2LD37	K1109_HUMAN	KIAA1109	2390					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CAACAATACCCTCAGCCTCAG	0.398																																						uc003ieh.3																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(7168-7170)ccC>ccT		Homo sapiens KIAA1109 (KIAA1109), mRNA.							103.0	98.0	100.0					4																	123185435		1902	4121	6023	SO:0001819	synonymous_variant	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123185435C>T	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.7170C>T	4.37:g.123185435C>T			Somatic				KIAA1109_uc003iel.1_Silent_p.P325P|KIAA1109_uc003iek.2_Silent_p.P1009P	p.P2390P	NM_015312	NP_056127	WXS	Illumina GAIIx	Phase_I	Q2LD37	K1109_HUMAN			42	7215	+			2390					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Silent	SNP	ENST00000264501.4	37	c.7170C>T	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.955|8.955	0.969145|0.969145	0.18659|0.18659	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000419325|ENST00000446180	.|T	.|0.32023	.|1.47	5.92|5.92	3.26|3.26	0.37387|0.37387	.|.	.|0.000000	.|0.51477	.|U	.|0.000091	T|T	0.35998|0.35998	0.0951|0.0951	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.03717|0.03717	-1.1010|-1.1010	4|7	.|0.36615	.|T	.|0.2	.|.	8.7663|8.7663	0.34704|0.34704	0.0:0.6402:0.2328:0.127|0.0:0.6402:0.2328:0.127	.|.	.|.	.|.	.|.	F|L	348|963	.|ENSP00000394909:P963L	.|ENSP00000394909:P963L	L|P	+|+	1|2	0|0	KIAA1109|KIAA1109	123404885|123404885	0.189000|0.189000	0.23263|0.23263	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	-0.432000|-0.432000	0.06956|0.06956	0.394000|0.394000	0.25230|0.25230	-0.145000|-0.145000	0.13849|0.13849	CTC|CCT		0.398	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		27	64	0	0	0	1	0	27	64				
COL20A1	57642	broad.mit.edu	37	20	61941834	61941834	+	Silent	SNP	C	C	T			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr20:61941834C>T	ENST00000358894.6	+	11	1465	c.1365C>T	c.(1363-1365)ggC>ggT	p.G455G	COL20A1_ENST00000422202.1_Silent_p.G462G|COL20A1_ENST00000326996.6_Silent_p.G455G|COL20A1_ENST00000435874.1_Silent_p.G462G	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	455	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GCGGGGTTGGCGAAGGCCTGC	0.687																																						uc011aau.2																			0				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36						c.(1363-1365)ggC>ggT		Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.							16.0	19.0	18.0					20																	61941834		1989	4150	6139	SO:0001819	synonymous_variant	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61941834C>T	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.1365C>T	20.37:g.61941834C>T			Somatic				COL20A1_uc011aav.2_Silent_p.G276G	p.G455G	NM_020882	NP_065933	WXS	Illumina GAIIx	Phase_I	Q9P218	COKA1_HUMAN			10	1465	+	all_cancers(38;1.39e-10)		455			Fibronectin type-III 2.		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Silent	SNP	ENST00000358894.6	37	c.1365C>T	CCDS46628.1																																																																																				0.687	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		3	12	0	0	0	1	0	3	12				
HSPA1L	3305	broad.mit.edu	37	6	31779208	31779208	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr6:31779208G>A	ENST00000375654.4	-	2	731	c.542C>T	c.(541-543)gCt>gTt	p.A181V	HSPA1L_ENST00000417199.3_Missense_Mutation_p.A181V	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	181					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GGCAATGGCAGCAGCCGTGGG	0.458																																						uc003nxh.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(541-543)gCt>gTt		Homo sapiens heat shock 70kDa protein 1-like (HSPA1L), mRNA.							95.0	84.0	88.0					6																	31779208		2203	4300	6503	SO:0001583	missense	3305				response to unfolded protein		ATP binding	g.chr6:31779208G>A	D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"""Heat shock proteins / HSP70"""	5234	protein-coding gene	gene with protein product		140559	"""heat shock 70kD protein-like 1"""			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.542C>T	6.37:g.31779208G>A	ENSP00000364805:p.Ala181Val		Somatic				HSPA1L_uc010jte.3_Missense_Mutation_p.A181V|HSPA1L_uc021yuz.1_Missense_Mutation_p.A181V	p.A181V	NM_005527	NP_005518	WXS	Illumina GAIIx	Phase_I	P34931	HS71L_HUMAN			1	725	-			181					A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Missense_Mutation	SNP	ENST00000375654.4	37	c.542C>T	CCDS34413.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.125224	0.77436	.	.	ENSG00000204390	ENST00000375654;ENST00000417199;ENST00000375653;ENST00000424494	T;T	0.13657	2.57;2.57	4.66	4.66	0.58398	.	.	.	.	.	T	0.47451	0.1446	H	0.99650	4.68	0.80722	D	1	D	0.55605	0.972	P	0.57776	0.827	T	0.72001	-0.4422	9	0.87932	D	0	.	15.0885	0.72174	0.0:0.0:1.0:0.0	.	181	P34931	HS71L_HUMAN	V	181;181;126;71	ENSP00000364805:A181V;ENSP00000387691:A181V	ENSP00000364804:A126V	A	-	2	0	HSPA1L	31887187	1.000000	0.71417	0.997000	0.53966	0.959000	0.62525	9.652000	0.98499	2.410000	0.81850	0.460000	0.39030	GCT		0.458	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2			3	72	0	0	0	1	0	3	72				
IGLV8-61	28774	broad.mit.edu	37	22	22453352	22453352	+	RNA	SNP	C	C	T	rs542479842		TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr22:22453352C>T	ENST00000390283.2	+	0	144									immunoglobulin lambda variable 8-61																		CAGGAGCCATCGTTCTCAGTG	0.522													c|||	1	0.000199681	0.0008	0.0	5008	,	,		18825	0.0		0.0	False		,,,				2504	0.0					uc021wml.1																			0													Parts of antibodies, mostly variable regions.							75.0	76.0	76.0					22																	22453352		2037	4187	6224			0							g.chr22:22453352C>T	Z73650		22q11.2	2012-02-08			ENSG00000211638	ENSG00000211638		"""Immunoglobulins / IGL locus"""	5931	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000150844		22.37:g.22453352C>T			Somatic								WXS	Illumina GAIIx	Phase_I					6		+									RNA	SNP	ENST00000390283.2	37	c.473C>T																																																																																					0.522	IGLV8-61-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000320321.1	NG_000002		22	46	0	0	0	1	0	22	46				
WDR66	144406	broad.mit.edu	37	12	122359381	122359381	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr12:122359381C>T	ENST00000288912.4	+	2	1024	c.170C>T	c.(169-171)aCg>aTg	p.T57M	WDR66_ENST00000397454.2_Missense_Mutation_p.T57M	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	57	Glu-rich.						calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		gagaggaaaacgggcgaggag	0.468																																					Esophageal Squamous(85;849 1794 49757 52143)	uc009zxk.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(169-171)aCg>aTg		Homo sapiens WD repeat domain 66 (WDR66), transcript variant 1, mRNA.							47.0	48.0	48.0					12																	122359381		1918	4119	6037	SO:0001583	missense	144406						calcium ion binding	g.chr12:122359381C>T	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.170C>T	12.37:g.122359381C>T	ENSP00000288912:p.Thr57Met		Somatic				WDR66_uc021rfh.1_Missense_Mutation_p.T57M	p.T57M	NM_144668	NP_653269	WXS	Illumina GAIIx	Phase_I	Q8TBY9	WDR66_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)	1	329	+	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)		57			Glu-rich.		C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	ENST00000288912.4	37	c.170C>T	CCDS41853.1	.	.	.	.	.	.	.	.	.	.	C	1.651	-0.513897	0.04200	.	.	ENSG00000158023	ENST00000288912;ENST00000397454	T;T	0.05081	3.51;3.5	2.39	-4.79	0.03200	.	12.678200	0.00357	N	0.000032	T	0.03263	0.0095	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36040	-0.9764	10	0.46703	T	0.11	.	2.4313	0.04472	0.1976:0.4478:0.2185:0.1361	.	57	Q8TBY9	WDR66_HUMAN	M	57	ENSP00000288912:T57M;ENSP00000380595:T57M	ENSP00000288912:T57M	T	+	2	0	WDR66	120843764	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-1.092000	0.03366	-2.207000	0.00740	-2.185000	0.00314	ACG		0.468	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668		7	17	0	0	0	1	0	7	17				
COL6A2	1292	broad.mit.edu	37	21	47532397	47532397	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr21:47532397C>T	ENST00000300527.4	+	3	724	c.620C>T	c.(619-621)aCg>aTg	p.T207M	COL6A2_ENST00000409416.1_Missense_Mutation_p.T207M|COL6A2_ENST00000357838.4_Missense_Mutation_p.T207M|COL6A2_ENST00000310645.5_Missense_Mutation_p.T207M|COL6A2_ENST00000397763.1_Missense_Mutation_p.T207M|COL6A2_ENST00000460886.1_3'UTR	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	207	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		ATCGCCAGCACGCCGCACGAG	0.662																																						uc002zia.1																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(619-621)aCg>aTg		Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.							22.0	30.0	27.0					21																	47532397		2200	4291	6491	SO:0001583	missense	1292				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47532397C>T	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.620C>T	21.37:g.47532397C>T	ENSP00000300527:p.Thr207Met		Somatic				COL6A2_uc002zhz.1_Missense_Mutation_p.T207M|COL6A2_uc002zhy.1_Missense_Mutation_p.T207M	p.T207M	NM_001849	NP_001840	WXS	Illumina GAIIx	Phase_I	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	2	702	+	Breast(49;0.245)		207			Nonhelical region.|VWFA 1.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.620C>T	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	C	6.716	0.500827	0.12822	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763	D;D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7;-1.7	4.21	1.91	0.25777	von Willebrand factor, type A (3);	0.659028	0.15915	N	0.238410	T	0.72692	0.3492	L	0.34521	1.04	0.09310	N	1	B;B;B	0.23937	0.045;0.094;0.075	B;B;B	0.21360	0.027;0.034;0.028	T	0.63296	-0.6669	10	0.45353	T	0.12	-2.8059	9.9243	0.41483	0.0:0.7108:0.0:0.2892	.	207;207;207	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	M	207	ENSP00000300527:T207M;ENSP00000350497:T207M;ENSP00000312529:T207M;ENSP00000387115:T207M;ENSP00000380870:T207M	ENSP00000300527:T207M	T	+	2	0	COL6A2	46356825	0.001000	0.12720	0.216000	0.23742	0.831000	0.47069	1.301000	0.33447	0.905000	0.36596	0.313000	0.20887	ACG		0.662	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			13	26	0	0	0	1	0	13	26				
PALB2	79728	broad.mit.edu	37	16	23646583	23646583	+	Silent	SNP	G	G	T			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr16:23646583G>T	ENST00000261584.4	-	4	1436	c.1284C>A	c.(1282-1284)gtC>gtA	p.V428V		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	428	ChAM (Chromatin-association motif); required for chromatin association, mediates nucleosome association.|DNA-binding (with the preference D loop > dsDNA > ssDNA).				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		GACTCTGAATGACAGCCTCCA	0.393			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks																														uc002dlx.1			yes	Rec		"""Fanconi anaemia N, breast cancer susceptibility """	16	16p12.1	79728	"""F, N, Mis"""	partner and localizer of BRCA2			"""L, O, E"""		"""Wilms tumor, medulloblastoma, AML ,breast"""			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(1282-1284)gtC>gtA	Involved in tolerance or repair of DNA crosslinks	Homo sapiens partner and localizer of BRCA2 (PALB2), mRNA.							71.0	75.0	74.0					16																	23646583		2195	4300	6495	SO:0001819	synonymous_variant	79728				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	g.chr16:23646583G>T		CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"""Fanconi anemia, complementation groups"""	26144	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group N"""	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.1284C>A	16.37:g.23646583G>T			Somatic					p.V428V	NM_024675	NP_078951	WXS	Illumina GAIIx	Phase_I	Q86YC2	PALB2_HUMAN		GBM - Glioblastoma multiforme(48;0.0167)	3	1484	-			428					A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Silent	SNP	ENST00000261584.4	37	c.1284C>A	CCDS32406.1																																																																																				0.393	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	NM_024675		3	85	0	0	0	1	0	3	85				
ZNF414	84330	broad.mit.edu	37	19	8576745	8576745	+	Silent	SNP	G	G	A			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr19:8576745G>A	ENST00000255616.8	-	5	731	c.630C>T	c.(628-630)ccC>ccT	p.P210P	ZNF414_ENST00000393927.4_Silent_p.P210P	NM_032370.2	NP_115746.2	Q96IQ9	ZN414_HUMAN	zinc finger protein 414	210					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			lung(2)	2						CCAGGGCCGGGGGTGGCGGCG	0.726																																						uc002mke.4																			0				lung(2)	2						c.(628-630)ccC>ccT		Homo sapiens zinc finger protein 414 (ZNF414), transcript variant 1, mRNA.							4.0	6.0	5.0					19																	8576745		1631	3504	5135	SO:0001819	synonymous_variant	84330				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:8576745G>A	AK074191	CCDS12205.1, CCDS54211.1	19p13.2	2008-02-05				ENSG00000133250		"""Zinc fingers, C2H2-type"""	20630	protein-coding gene	gene with protein product							Standard	NM_032370		Approved	MGC15716, Zfp414	uc002mke.4	Q96IQ9		ENST00000255616.8:c.630C>T	19.37:g.8576745G>A			Somatic				ZNF414_uc010dwf.3_Silent_p.P199P|ZNF414_uc002mkf.3_Silent_p.P210P	p.P210P	NM_001146175	NP_001139647	WXS	Illumina GAIIx	Phase_I	Q96IQ9	ZN414_HUMAN			4	748	-			210					A8MY94	Silent	SNP	ENST00000255616.8	37	c.630C>T	CCDS12205.1																																																																																				0.726	ZNF414-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460199.2	NM_032370		3	5	0	0	0	1	0	3	5				
ITGA2	3673	broad.mit.edu	37	5	52360756	52360756	+	Silent	SNP	G	G	A			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr5:52360756G>A	ENST00000296585.5	+	14	1760	c.1617G>A	c.(1615-1617)caG>caA	p.Q539Q		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	539					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)	p.Q539Q(2)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TTTTGGGTCAGCACCAATTTC	0.428																																						uc003joy.3																			2	Substitution - coding silent(2)	p.Q539Q(3)|p.G538C(1)	lung(2)	breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(1615-1617)caG>caA		Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA.							111.0	115.0	113.0					5																	52360756		2203	4300	6503	SO:0001819	synonymous_variant	3673				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	g.chr5:52360756G>A		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.1617G>A	5.37:g.52360756G>A			Somatic				ITGA2_uc011cqa.2_Non-coding_Transcript|ITGA2_uc011cqb.2_Non-coding_Transcript|ITGA2_uc011cqc.2_Silent_p.Q463Q|ITGA2_uc011cqd.2_Non-coding_Transcript|ITGA2_uc011cqe.2_Non-coding_Transcript	p.Q539Q	NM_002203	NP_002194	WXS	Illumina GAIIx	Phase_I	P17301	ITA2_HUMAN			13	1760	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	539					Q14595	Silent	SNP	ENST00000296585.5	37	c.1617G>A	CCDS3957.1																																																																																				0.428	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		3	104	0	0	0	1	0	3	104				
KCNK12	56660	broad.mit.edu	37	2	47797086	47797086	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr2:47797086delT	ENST00000327876.4	-	1	992	c.385delA	c.(385-387)accfs	p.T129fs	KCNK12_ENST00000493527.1_5'UTR|AC138655.1_ENST00000601243.1_5'Flank	NM_022055.1	NP_071338.1	Q9HB15	KCNKC_HUMAN	potassium channel, subfamily K, member 12	129						integral component of membrane (GO:0016021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.0?(2)|p.?(1)		NS(1)|endometrium(1)|lung(3)|ovary(1)	6		all_hematologic(82;0.0495)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TCACCTATGGTTGACACCACG	0.721																																						uc002rwb.3																			3	Whole gene deletion(2)|Unknown(1)	p.0?(2)|p.?(1)	haematopoietic_and_lymphoid_tissue(2)|prostate(1)	NS(1)|endometrium(1)|lung(3)|ovary(1)	6						c.(385-387)accfs		Homo sapiens potassium channel, subfamily K, member 12 (KCNK12), mRNA.							3.0	4.0	4.0					2																	47797086		1841	3676	5517	SO:0001589	frameshift_variant	56660					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr2:47797086delT	AF287302	CCDS1835.1	2p16.3	2012-03-07			ENSG00000184261	ENSG00000184261		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6274	protein-coding gene	gene with protein product		607366				11060316	Standard	NM_022055		Approved	THIK-2, THIK2, K2p12.1	uc002rwb.3	Q9HB15	OTTHUMG00000129131	ENST00000327876.4:c.385delA	2.37:g.47797086delT	ENSP00000327611:p.Thr129fs		Somatic				MSH2_uc002rvz.3_Intron	p.T129fs	NM_022055	NP_071338	WXS	Illumina GAIIx	Phase_I	Q9HB15	KCNKC_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		0	385	-		all_hematologic(82;0.0495)|Acute lymphoblastic leukemia(82;0.175)	129						Frame_Shift_Del	DEL	ENST00000327876.4	37	c.385delA	CCDS1835.1																																																																																				0.721	KCNK12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251182.2	NM_022055		2	4						2	4	---	---	---	---
KDM3B	51780	broad.mit.edu	37	5	137727661	137727661	+	Frame_Shift_Del	DEL	G	G	-	rs187275789		TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr5:137727661delG	ENST00000314358.5	+	8	2540	c.2340delG	c.(2338-2340)ccgfs	p.P780fs	KDM3B_ENST00000542866.1_Intron|KDM3B_ENST00000394866.1_Frame_Shift_Del_p.P436fs	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	780					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TGTCCTCCCCGGCAGATTTTT	0.532																																						uc003lcy.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						c.(2338-2340)ccgfs		Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.							177.0	196.0	189.0					5																	137727661		2203	4300	6503	SO:0001589	frameshift_variant	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137727661delG	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.2340delG	5.37:g.137727661delG	ENSP00000326563:p.Pro780fs		Somatic				KDM3B_uc010jew.1_Frame_Shift_Del_p.P436fs|KDM3B_uc011cys.1_Intron	p.P780fs	NM_016604	NP_057688	WXS	Illumina GAIIx	Phase_I	Q7LBC6	KDM3B_HUMAN			7	2540	+			780					A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Frame_Shift_Del	DEL	ENST00000314358.5	37	c.2340delG	CCDS34242.1																																																																																				0.532	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		193	270						193	270	---	---	---	---
