#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
FGF5	2250	broad.mit.edu	37	4	81188037	81188037	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A686-01A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fad743-052d-43b4-aac1-853e9800a7a5	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr4:81188037C>T	ENST00000312465.7	+	1	285	c.59C>T	c.(58-60)gCt>gTt	p.A20V	FGF5_ENST00000456523.3_Missense_Mutation_p.A20V	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	20					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell differentiation (GO:0010001)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction involved in regulation of gene expression (GO:0023019)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	fibroblast growth factor receptor binding (GO:0005104)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						AGCGCCTGGGCTCACGGGGAG	0.617																																						ENST00000456523.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(58-60)gCt>gTt		fibroblast growth factor 5							41.0	44.0	43.0					4																	81188037		2202	4300	6502	SO:0001583	missense	2250				cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity	g.chr4:81188037C>T	M23534	CCDS3586.1, CCDS34021.1	4q21	2014-01-30			ENSG00000138675	ENSG00000138675		"""Endogenous ligands"""	3683	protein-coding gene	gene with protein product		165190				3211147, 2577873	Standard	NM_001291812		Approved		uc003hmd.3	P12034	OTTHUMG00000130288	ENST00000312465.7:c.59C>T	4.37:g.81188037C>T	ENSP00000311697:p.Ala20Val					FGF5_ENST00000312465.7_Missense_Mutation_p.A20V	p.A20V	NM_033143.2	NP_149134.1	P12034	FGF5_HUMAN			1	245	+			20					B2R554|O75846|Q3Y8M3|Q8NF90	Missense_Mutation	SNP	ENST00000312465.7	37	c.59C>T	CCDS34021.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.051676	0.75960	.	.	ENSG00000138675	ENST00000312465;ENST00000456523	T;T	0.09073	3.02;3.02	5.51	4.67	0.58626	.	0.361948	0.25408	N	0.030884	T	0.07548	0.0190	L	0.29908	0.895	0.33789	D	0.625237	P;B	0.36010	0.532;0.039	B;B	0.37422	0.249;0.012	T	0.23940	-1.0174	10	0.41790	T	0.15	.	9.8889	0.41279	0.0:0.7873:0.1385:0.0741	.	20;20	P12034-2;P12034	.;FGF5_HUMAN	V	20	ENSP00000311697:A20V;ENSP00000398353:A20V	ENSP00000311697:A20V	A	+	2	0	FGF5	81407061	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	1.292000	0.33342	1.557000	0.49525	0.561000	0.74099	GCT		0.617	FGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252627.2			4	65	0	0	0	1	0	4	65				
CELSR3	1951	broad.mit.edu	37	3	48696931	48696931	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A686-01A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fad743-052d-43b4-aac1-853e9800a7a5	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr3:48696931G>A	ENST00000164024.4	-	1	3417	c.3137C>T	c.(3136-3138)cCa>cTa	p.P1046L	CELSR3_ENST00000544264.1_Missense_Mutation_p.P1046L	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1046	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGTCCGGAGTGGGGGCACACC	0.557																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(3136-3138)cCa>cTa		cadherin, EGF LAG seven-pass G-type receptor 3							130.0	127.0	128.0					3																	48696931		2203	4300	6503	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48696931G>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.3137C>T	3.37:g.48696931G>A	ENSP00000164024:p.Pro1046Leu					CELSR3_ENST00000164024.4_Missense_Mutation_p.P1046L	p.P1046L			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	3417	-			1046			Cadherin 7.		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.3137C>T	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.334896	0.81801	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.56941	0.43;0.43	5.78	5.78	0.91487	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.75295	0.3830	M	0.81682	2.555	0.80722	D	1	D;D	0.71674	0.985;0.998	P;D	0.69654	0.833;0.965	T	0.77595	-0.2529	9	0.87932	D	0	.	19.9981	0.97395	0.0:0.0:1.0:0.0	.	1046;1116	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	L	1046	ENSP00000164024:P1046L;ENSP00000445694:P1046L	ENSP00000164024:P1046L	P	-	2	0	CELSR3	48671935	1.000000	0.71417	0.990000	0.47175	0.946000	0.59487	9.869000	0.99810	2.733000	0.93635	0.561000	0.74099	CCA		0.557	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		76	162	0	0	0	1	0	76	162				
BSN	8927	broad.mit.edu	37	3	49702234	49702234	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A686-01A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fad743-052d-43b4-aac1-853e9800a7a5	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr3:49702234G>A	ENST00000296452.4	+	10	11857	c.11743G>A	c.(11743-11745)Gtc>Atc	p.V3915I		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3915					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TGTCACAGCTGTCTCTGCTTT	0.542																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(11743-11745)Gtc>Atc		bassoon presynaptic cytomatrix protein							149.0	146.0	147.0					3																	49702234		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49702234G>A	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.11743G>A	3.37:g.49702234G>A	ENSP00000296452:p.Val3915Ile						p.V3915I	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	10	11857	+			3915					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.11743G>A	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.579003	0.46006	.	.	ENSG00000164061	ENST00000296452	T	0.19105	2.17	5.02	5.02	0.67125	.	0.470589	0.20246	N	0.096196	T	0.17280	0.0415	L	0.38531	1.155	0.47778	D	0.999518	P	0.38020	0.615	B	0.29267	0.1	T	0.04413	-1.0953	10	0.38643	T	0.18	-19.9079	17.4698	0.87642	0.0:0.0:1.0:0.0	.	3915	Q9UPA5	BSN_HUMAN	I	3915	ENSP00000296452:V3915I	ENSP00000296452:V3915I	V	+	1	0	BSN	49677238	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.742000	0.62103	2.481000	0.83766	0.561000	0.74099	GTC		0.542	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		5	208	0	0	0	1	0	5	208				
TUBB8P7	197331	broad.mit.edu	37	16	90161618	90161618	+	RNA	SNP	C	C	T	rs13338202	byFrequency	TCGA-RW-A686-01A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fad743-052d-43b4-aac1-853e9800a7a5	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr16:90161618C>T	ENST00000564451.1	+	0	971				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.D118D(2)									CAGTGATGGACGTTGTCAGAA	0.607													.|||	94	0.01877	0.0469	0.0173	5008	,	,		18765	0.0		0.0169	False		,,,				2504	0.0031					ENST00000567960.1																			2	Substitution - coding silent(2)	p.D118D(2)	kidney(2)																																																197331							g.chr16:90161618C>T			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161618C>T						TUBB8P7_ENST00000564451.1_RNA								0	354	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.607	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		5	45	0	0	0	1	0	5	45				
IGHV4-61	28391	broad.mit.edu	37	14	107095582	107095582	+	RNA	SNP	G	G	T	rs199752067	byFrequency	TCGA-RW-A686-01A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fad743-052d-43b4-aac1-853e9800a7a5	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr14:107095582G>T	ENST00000390630.2	-	0	80				RNA5SP389_ENST00000362610.1_RNA					immunoglobulin heavy variable 4-61																		AGGAGGTCCAGGACTCTCAGA	0.502																																						ENST00000390630.2																			0																				18.0	34.0	29.0					14																	107095582		1656	3889	5545			28391							g.chr14:107095582G>T	M29811		14q32.33	2012-02-08			ENSG00000211970	ENSG00000211970		"""Immunoglobulins / IGH locus"""	5655	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151976		14.37:g.107095582G>T														0	80	-									RNA	SNP	ENST00000390630.2	37																																																																																						0.502	IGHV4-61-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324623.1	NG_001019		4	45	1	0	0.0477658	1	0.0477658	4	45				
APOL2	23780	broad.mit.edu	37	22	36624072	36624072	+	Missense_Mutation	SNP	G	G	C	rs545596762		TCGA-RW-A686-01A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fad743-052d-43b4-aac1-853e9800a7a5	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr22:36624072G>C	ENST00000249066.6	-	6	868	c.392C>G	c.(391-393)aCc>aGc	p.T131S	APOL2_ENST00000451256.2_Missense_Mutation_p.T243S|APOL2_ENST00000358502.5_Missense_Mutation_p.T131S	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2	131					acute-phase response (GO:0006953)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|maternal process involved in female pregnancy (GO:0060135)|multicellular organismal development (GO:0007275)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|membrane (GO:0016020)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						GCCGAGGAGGGTCAGGATGCC	0.582																																						ENST00000249066.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						c.(391-393)aCc>aGc		apolipoprotein L, 2							74.0	83.0	80.0					22																	36624072		2201	4296	6497	SO:0001583	missense	23780				acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding	g.chr22:36624072G>C	AF324224	CCDS43014.1	22q12.3	2013-09-20			ENSG00000128335	ENSG00000128335		"""Apolipoproteins"""	619	protein-coding gene	gene with protein product	"""apolipoprotein L-II"""	607252				10591208, 11374903	Standard	NM_145637		Approved	APOL-II	uc003apa.3	Q9BQE5	OTTHUMG00000150634	ENST00000249066.6:c.392C>G	22.37:g.36624072G>C	ENSP00000249066:p.Thr131Ser					APOL2_ENST00000451256.2_Missense_Mutation_p.T243S|APOL2_ENST00000358502.5_Missense_Mutation_p.T131S	p.T131S	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN			6	868	-			131					B0QYK7|O95915|Q59GW9|Q5TH96|Q969T6|Q9BT28|Q9UGT1|Q9UH10	Missense_Mutation	SNP	ENST00000249066.6	37	c.392C>G	CCDS43014.1	.	.	.	.	.	.	.	.	.	.	G	1.766	-0.485622	0.04352	.	.	ENSG00000128335	ENST00000358502;ENST00000249066;ENST00000451256	T;T;T	0.03801	3.8;3.8;3.8	3.57	-7.15	0.01521	.	0.671823	0.15529	N	0.257588	T	0.02455	0.0075	N	0.11154	0.105	0.09310	N	1	B;B	0.26445	0.149;0.021	B;B	0.25140	0.058;0.019	T	0.24154	-1.0168	10	0.06757	T	0.87	.	20.0245	0.97517	0.0:0.7352:0.2648:0.0	.	243;131	B4E1T5;Q9BQE5	.;APOL2_HUMAN	S	131;131;243	ENSP00000351292:T131S;ENSP00000249066:T131S;ENSP00000403153:T243S	ENSP00000249066:T131S	T	-	2	0	APOL2	34954018	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.615000	0.00882	-1.838000	0.01187	-1.963000	0.00474	ACC		0.582	APOL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319279.1	NM_145637		24	48	0	0	0	1	0	24	48				
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C	rs371810308	byFrequency	TCGA-RW-A686-01A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fad743-052d-43b4-aac1-853e9800a7a5	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr18:14513675T>C	ENST00000358970.5	-	10	1518	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	507								p.K507E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284													.|||	3	0.000599042	0.0	0.0	5008	,	,		16953	0.003		0.0	False		,,,				2504	0.0					ENST00000358970.5																			2	Substitution - Missense(2)	p.K507E(2)	urinary_tract(1)|prostate(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1519-1521)Aaa>Gaa		POTE ankyrin domain family, member C							164.0	115.0	130.0					18																	14513675		692	1590	2282	SO:0001583	missense	388468							g.chr18:14513675T>C	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1519A>G	18.37:g.14513675T>C	ENSP00000351856:p.Lys507Glu						p.K507E	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1518	-			507						Missense_Mutation	SNP	ENST00000358970.5	37	c.1519A>G	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	t	0.001	-3.812128	0.00004	.	.	ENSG00000183206	ENST00000358970	T	0.32753	1.44	1.53	-3.07	0.05363	.	.	.	.	.	T	0.10165	0.0249	N	0.11427	0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31752	-0.9932	9	0.02654	T	1	.	3.0168	0.06063	0.0:0.3604:0.2511:0.3885	.	507	B2RU33	POTEC_HUMAN	E	507	ENSP00000351856:K507E	ENSP00000351856:K507E	K	-	1	0	POTEC	14503675	0.024000	0.19004	0.012000	0.15200	0.024000	0.10985	-0.021000	0.12504	-1.054000	0.03214	-3.018000	0.00074	AAA		0.284	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		4	166	0	0	0	1	0	4	166				
ABCA12	26154	broad.mit.edu	37	2	215910616	215910616	+	Missense_Mutation	SNP	A	A	T			TCGA-RW-A686-01A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fad743-052d-43b4-aac1-853e9800a7a5	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr2:215910616A>T	ENST00000272895.7	-	7	1036	c.817T>A	c.(817-819)Ttt>Att	p.F273I		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	273					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCATTCTGAAACACATTTGGA	0.358																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(817-819)Ttt>Att		ATP-binding cassette, sub-family A (ABC1), member 12							89.0	92.0	91.0					2																	215910616		2202	4300	6502	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215910616A>T	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.817T>A	2.37:g.215910616A>T	ENSP00000272895:p.Phe273Ile						p.F273I	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	7	1036	-		Renal(323;0.127)	273					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.817T>A	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	A	16.25	3.069774	0.55539	.	.	ENSG00000144452	ENST00000272895	T	0.23552	1.9	5.62	4.47	0.54385	.	0.088909	0.49305	D	0.000145	T	0.16300	0.0392	L	0.27053	0.805	0.80722	D	1	B	0.24258	0.1	B	0.15484	0.013	T	0.06023	-1.0850	10	0.35671	T	0.21	.	8.4528	0.32882	0.9117:0.0:0.0883:0.0	.	273	Q86UK0	ABCAC_HUMAN	I	273	ENSP00000272895:F273I	ENSP00000272895:F273I	F	-	1	0	ABCA12	215618861	0.997000	0.39634	0.997000	0.53966	0.988000	0.76386	1.043000	0.30316	1.082000	0.41137	0.477000	0.44152	TTT		0.358	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		20	40	0	0	0	1	0	20	40				
ARHGAP29	9411	broad.mit.edu	37	1	94639989	94639989	+	Silent	SNP	C	C	T			TCGA-RW-A686-01A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fad743-052d-43b4-aac1-853e9800a7a5	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr1:94639989C>T	ENST00000260526.6	-	23	3404	c.3222G>A	c.(3220-3222)caG>caA	p.Q1074Q	ARHGAP29_ENST00000482481.1_5'Flank	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	1074					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		GTAGAGTTTGCTGGTCAAAGC	0.388																																						ENST00000260526.6																			0				NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(3220-3222)caG>caA		Rho GTPase activating protein 29							152.0	148.0	149.0					1																	94639989		2203	4300	6503	SO:0001819	synonymous_variant	9411				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	g.chr1:94639989C>T		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.3222G>A	1.37:g.94639989C>T							p.Q1074Q	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN		all cancers(265;0.0187)|Epithelial(280;0.159)	23	3404	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	1074					O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Silent	SNP	ENST00000260526.6	37	c.3222G>A	CCDS748.1																																																																																				0.388	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		4	118	0	0	0	1	0	4	118				
SLC47A1	55244	broad.mit.edu	37	17	19458546	19458546	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A686-01A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fad743-052d-43b4-aac1-853e9800a7a5	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr17:19458546G>A	ENST00000270570.4	+	7	651	c.565G>A	c.(565-567)Gta>Ata	p.V189I	SLC47A1_ENST00000395585.1_Missense_Mutation_p.V189I|SNORA59B_ENST00000458926.1_RNA|SLC47A1_ENST00000542886.1_Intron|SLC47A1_ENST00000571335.1_Intron|SLC47A1_ENST00000584348.1_3'UTR|SLC47A1_ENST00000436810.2_Missense_Mutation_p.V166I|SLC47A1_ENST00000457293.1_Missense_Mutation_p.V189I|SLC47A1_ENST00000575023.1_Intron	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	189					organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	GCCCCAGATCGTAACTGGAGT	0.507																																						ENST00000270570.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(565-567)Gta>Ata		solute carrier family 47 (multidrug and toxin extrusion), member 1							302.0	245.0	265.0					17																	19458546		2203	4300	6503	SO:0001583	missense	55244					integral to membrane|plasma membrane	drug:hydrogen antiporter activity	g.chr17:19458546G>A		CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"""Solute carriers"""	25588	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 1"""	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.565G>A	17.37:g.19458546G>A	ENSP00000270570:p.Val189Ile					SLC47A1_ENST00000571335.1_Intron|SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000584348.1_3'UTR|SLC47A1_ENST00000436810.2_Missense_Mutation_p.V166I|SLC47A1_ENST00000457293.1_Missense_Mutation_p.V189I|SLC47A1_ENST00000395585.1_Missense_Mutation_p.V189I|SLC47A1_ENST00000542886.1_Intron	p.V189I	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN			7	651	+	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)		189					Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Missense_Mutation	SNP	ENST00000270570.4	37	c.565G>A	CCDS11209.1	.	.	.	.	.	.	.	.	.	.	G	1.238	-0.622120	0.03636	.	.	ENSG00000142494	ENST00000436810;ENST00000270570;ENST00000457293;ENST00000395585	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.6	-4.78	0.03209	.	0.538389	0.22101	N	0.064617	T	0.08403	0.0209	N	0.04669	-0.19	0.40720	D	0.982656	B;B;B	0.12013	0.001;0.001;0.005	B;B;B	0.11329	0.002;0.004;0.006	T	0.25222	-1.0138	10	0.12430	T	0.62	-14.0053	3.3813	0.07256	0.309:0.3816:0.2175:0.0919	.	166;189;189	E7EX57;Q96FL8;Q96FL8-3	.;S47A1_HUMAN;.	I	166;189;189;189	ENSP00000407155:V166I;ENSP00000270570:V189I;ENSP00000415586:V189I;ENSP00000378951:V189I	ENSP00000270570:V189I	V	+	1	0	SLC47A1	19399138	0.000000	0.05858	0.000000	0.03702	0.712000	0.41017	-1.974000	0.01499	-0.814000	0.04352	-0.137000	0.14449	GTA		0.507	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132250.1	NM_018242		5	260	0	0	0	1	0	5	260				
MRC2	9902	broad.mit.edu	37	17	60742089	60742089	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A686-01A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fad743-052d-43b4-aac1-853e9800a7a5	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr17:60742089G>A	ENST00000303375.5	+	2	701	c.299G>A	c.(298-300)gGc>gAc	p.G100D		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	100	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GGCTGGCCAGGCACCAACACC	0.607																																						ENST00000303375.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						c.(298-300)gGc>gAc		mannose receptor, C type 2							77.0	70.0	73.0					17																	60742089		2203	4300	6503	SO:0001583	missense	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60742089G>A	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.299G>A	17.37:g.60742089G>A	ENSP00000307513:p.Gly100Asp						p.G100D	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN			2	701	+			100			Ricin B-type lectin.		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	ENST00000303375.5	37	c.299G>A	CCDS11634.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.586310	0.46110	.	.	ENSG00000011028	ENST00000303375	T	0.31769	1.48	5.23	3.21	0.36854	Ricin B-related lectin (1);Ricin B lectin (2);	0.350989	0.33753	N	0.004596	T	0.18215	0.0437	N	0.25647	0.755	0.80722	D	1	B	0.28713	0.22	B	0.24006	0.05	T	0.05716	-1.0868	10	0.45353	T	0.12	-23.7362	6.2578	0.20884	0.0699:0.2445:0.5594:0.1261	.	100	Q9UBG0	MRC2_HUMAN	D	100	ENSP00000307513:G100D	ENSP00000307513:G100D	G	+	2	0	MRC2	58095821	0.985000	0.35326	0.995000	0.50966	0.987000	0.75469	2.306000	0.43673	0.578000	0.29487	0.561000	0.74099	GGC		0.607	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			24	44	0	0	0	1	0	24	44				
FAM86C2P	645332	broad.mit.edu	37	11	67560590	67560590	+	RNA	SNP	C	C	T			TCGA-RW-A686-01A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fad743-052d-43b4-aac1-853e9800a7a5	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr11:67560590C>T	ENST00000528089.1	-	0	1160							A6NEL3	F86C2_HUMAN	family with sequence similarity 86, member C2, pseudogene																		AAGTTTTATCCGCTTTCCCAT	0.413																																						ENST00000528089.1																			0																																																			645332							g.chr11:67560590C>T			11q13.2	2011-07-07			ENSG00000160172	ENSG00000160172			42392	pseudogene	pseudogene							Standard	NR_024249		Approved		uc001omt.4	A6NEL3	OTTHUMG00000167222		11.37:g.67560590C>T														0	1160	-									RNA	SNP	ENST00000528089.1	37																																																																																						0.413	FAM86C2P-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000393796.1			4	14	0	0	0	1	0	4	14				
PCK1	5105	broad.mit.edu	37	20	56138155	56138155	+	Missense_Mutation	SNP	A	A	T			TCGA-RW-A686-01A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fad743-052d-43b4-aac1-853e9800a7a5	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr20:56138155A>T	ENST00000319441.4	+	5	846	c.682A>T	c.(682-684)Atc>Ttc	p.I228F	PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Missense_Mutation_p.I96F	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	228					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CCGCAGAGAGATCATCTCCTT	0.612																																						ENST00000319441.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34						c.(682-684)Atc>Ttc		phosphoenolpyruvate carboxykinase 1 (soluble)							76.0	79.0	78.0					20																	56138155		2203	4300	6503	SO:0001583	missense	5105				gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr20:56138155A>T		CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.682A>T	20.37:g.56138155A>T	ENSP00000319814:p.Ile228Phe					PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Missense_Mutation_p.I96F	p.I228F	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)		5	846	+	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		228					A8K437|B4DT64|Q8TCA3|Q9UJD2	Missense_Mutation	SNP	ENST00000319441.4	37	c.682A>T	CCDS13460.1	.	.	.	.	.	.	.	.	.	.	A	29.6	5.018649	0.93404	.	.	ENSG00000124253	ENST00000319441;ENST00000535860	T;T	0.08984	3.03;3.03	5.06	5.06	0.68205	Phosphoenolpyruvate carboxykinase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.45597	0.1350	H	0.98111	4.15	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.67051	-0.5768	10	0.87932	D	0	-41.4685	15.1223	0.72453	1.0:0.0:0.0:0.0	.	228	P35558	PCKGC_HUMAN	F	228;96	ENSP00000319814:I228F;ENSP00000444342:I96F	ENSP00000319814:I228F	I	+	1	0	PCK1	55571561	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	6.983000	0.76180	2.040000	0.60383	0.533000	0.62120	ATC		0.612	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			26	60	0	0	0	1	0	26	60				
IGHV4-61	28391	broad.mit.edu	37	14	107095585	107095585	+	RNA	SNP	C	C	G	rs374786542		TCGA-RW-A686-01A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fad743-052d-43b4-aac1-853e9800a7a5	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr14:107095585C>G	ENST00000390630.2	-	0	77				RNA5SP389_ENST00000362610.1_RNA					immunoglobulin heavy variable 4-61																		AGGTCCAGGACTCTCAGAAAG	0.507																																						ENST00000390630.2																			0															C		23,3269		0,23,1623	16.0	32.0	27.0			0.7	0.0	14		27	9,7755		0,9,3873	no	intergenic				0,32,5496	GG,GC,CC		0.1159,0.6987,0.2894			107095585	32,11024	1646	3882	5528			28391							g.chr14:107095585C>G	M29811		14q32.33	2012-02-08			ENSG00000211970	ENSG00000211970		"""Immunoglobulins / IGH locus"""	5655	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151976		14.37:g.107095585C>G														0	77	-									RNA	SNP	ENST00000390630.2	37																																																																																						0.507	IGHV4-61-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324623.1	NG_001019		4	41	0	0	0	1	0	4	41				
BCR	613	broad.mit.edu	37	22	23523743	23523743	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A686-01A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fad743-052d-43b4-aac1-853e9800a7a5	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr22:23523743G>A	ENST00000305877.8	+	1	1347	c.596G>A	c.(595-597)cGc>cAc	p.R199H	BCR_ENST00000359540.3_Missense_Mutation_p.R199H|BCR_ENST00000398512.5_Missense_Mutation_p.R199H	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	199	Binding to ABL SH2-domain.|Kinase.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	GTGTCGGACCGCATCAGCTCC	0.667			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""																																	ENST00000305877.8				Dom	yes		22	22q11.21	613	T	breakpoint cluster region			L	"""ABL1,  FGFR1, JAK2 """		"""CML, ALL, AML"""	BCR/JAK2(6)	0				central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						c.(595-597)cGc>cAc		breakpoint cluster region																																				SO:0001583	missense	613				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr22:23523743G>A		CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.596G>A	22.37:g.23523743G>A	ENSP00000303507:p.Arg199His					BCR_ENST00000359540.3_Missense_Mutation_p.R199H|BCR_ENST00000398512.5_Missense_Mutation_p.R199H	p.R199H	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN			1	1347	+			199			Binding to ABL SH2-domain.|Kinase.		P78501|Q12842|Q4LE80|Q6NZI3	Missense_Mutation	SNP	ENST00000305877.8	37	c.596G>A	CCDS13806.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.832592	0.50845	.	.	ENSG00000186716	ENST00000305877;ENST00000359540;ENST00000398512;ENST00000290956;ENST00000292697;ENST00000420248	T;T;T	0.48836	1.64;1.63;0.8	4.35	3.34	0.38264	.	0.081767	0.48286	D	0.000199	T	0.31358	0.0794	N	0.14661	0.345	0.27192	N	0.960401	P;D	0.53151	0.938;0.958	P;B	0.45610	0.487;0.271	T	0.13899	-1.0492	10	0.72032	D	0.01	.	6.7864	0.23675	0.23:0.0:0.77:0.0	.	199;199	P11274-2;P11274	.;BCR_HUMAN	H	199	ENSP00000303507:R199H;ENSP00000352535:R199H;ENSP00000381524:R199H	ENSP00000290956:R199H	R	+	2	0	BCR	21853743	0.999000	0.42202	0.219000	0.23793	0.295000	0.27426	4.931000	0.63469	0.959000	0.37980	-0.259000	0.10710	CGC		0.667	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075819.1	NM_004327		4	44	0	0	0	1	0	4	44				
AFF3	3899	broad.mit.edu	37	2	100218011	100218013	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-RW-A686-01A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fad743-052d-43b4-aac1-853e9800a7a5	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr2:100218011_100218013delGCT	ENST00000409236.2	-	12	1367_1369	c.1255_1257delAGC	c.(1255-1257)agcdel	p.S419del	AFF3_ENST00000409579.1_In_Frame_Del_p.S444del|AFF3_ENST00000356421.2_In_Frame_Del_p.S444del|AFF3_ENST00000317233.4_In_Frame_Del_p.S419del			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	419	Poly-Ser.				embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						tgctgctgccgctgctgctgctg	0.685																																						ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(1255-1257)del		AF4/FMR2 family, member 3			,	365,3157		33,299,1429					,	-5.4	0.9			10	878,6286		79,720,2783	no	coding,coding	AFF3	NM_002285.2,NM_001025108.1	,	112,1019,4212	A1A1,A1R,RR		12.2557,10.3634,11.632	,	,		1243,9443				SO:0001651	inframe_deletion	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100218011_100218013delGCT	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1255_1257delAGC	2.37:g.100218020_100218022delGCT	ENSP00000387207:p.Ser419del					AFF3_ENST00000409579.1_In_Frame_Del_p.S444del|AFF3_ENST00000356421.2_In_Frame_Del_p.S444del|AFF3_ENST00000409236.1_In_Frame_Del_p.S419del	p.S419del	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			13	1490_1492	-			419			Poly-Ser.		B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	In_Frame_Del	DEL	ENST00000409236.2	37	c.1255_1257delAGC	CCDS42723.1																																																																																				0.685	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		2	4						2	4	---	---	---	---
ITGB1	3688	broad.mit.edu	37	10	33217043	33217045	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-RW-A686-01A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fad743-052d-43b4-aac1-853e9800a7a5	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr10:33217043_33217045delTCC	ENST00000396033.2	-	5	659_661	c.524_526delGGA	c.(523-528)aggatt>att	p.R175del	ITGB1_ENST00000302278.3_In_Frame_Del_p.R175del|ITGB1_ENST00000484088.1_Intron|ITGB1_ENST00000374956.4_In_Frame_Del_p.R175del|ITGB1_ENST00000423113.1_In_Frame_Del_p.R175del	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	175	VWFA.				axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	TCCGAAGTAATCCTCCTCATTTC	0.355																																						ENST00000396033.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(523-528)att>a		integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)																																				SO:0001651	inframe_deletion	3688				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity	g.chr10:33217043_33217045delTCC	BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"""CD molecules"", ""Integrins"""	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.524_526delGGA	10.37:g.33217046_33217048delTCC	ENSP00000379350:p.Arg175del					ITGB1_ENST00000374956.4_In_Frame_Del_p.RI175del|ITGB1_ENST00000302278.3_In_Frame_Del_p.RI175del|ITGB1_ENST00000484088.1_Intron|ITGB1_ENST00000423113.1_In_Frame_Del_p.RI175del	p.RI175del	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN			5	659_661	-		Ovarian(717;1.34e-05)|Breast(68;0.0634)	175			VWFA.		A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	In_Frame_Del	DEL	ENST00000396033.2	37	c.524_526delGGA	CCDS7174.1																																																																																				0.355	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211		43	82						43	82	---	---	---	---
LINC00334	114042	broad.mit.edu	37	21	46674141	46674142	+	lincRNA	INS	-	-	C	rs143681595|rs369464524	byFrequency	TCGA-RW-A686-01A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fad743-052d-43b4-aac1-853e9800a7a5	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr21:46674141_46674142insC	ENST00000584169.1	+	0	232									long intergenic non-protein coding RNA 334																		TGCCCACCTGGCCCCCAGGACC	0.639													?|CCCCC|CCCCCC|unsure	1699	0.339257	0.2965	0.2233	5008	,	,		12082	0.4415		0.2972	False		,,,				2504	0.4172					ENST00000584169.1																			0																																																			114042							g.chr21:46674141_46674142insC	AF426268		21q22.3	2012-10-12	2011-08-10	2011-08-10	ENSG00000182586	ENSG00000182586		"""Long non-coding RNAs"""	16425	non-coding RNA	RNA, long non-coding			"""chromosome 21 open reading frame 89"", ""non-protein coding RNA 334"""	C21orf89, NCRNA00334		12036297	Standard			Approved				OTTHUMG00000084875		21.37:g.46674146_46674146dupC														0	232	+									RNA	INS	ENST00000584169.1	37																																																																																						0.639	LINC00334-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000446101.1			2	4						2	4	---	---	---	---
SEC14L3	266629	broad.mit.edu	37	22	30858116	30858116	+	Frame_Shift_Del	DEL	C	C	-			TCGA-RW-A686-01A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fad743-052d-43b4-aac1-853e9800a7a5	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr22:30858116delC	ENST00000215812.4	-	9	818	c.728delG	c.(727-729)ggcfs	p.G243fs	SEC14L3_ENST00000401751.1_Frame_Shift_Del_p.G184fs|SEC14L3_ENST00000415957.2_Frame_Shift_Del_p.G184fs|SEC14L3_ENST00000540910.1_Frame_Shift_Del_p.G166fs|SEC14L3_ENST00000402286.1_Frame_Shift_Del_p.G166fs|SEC14L3_ENST00000403066.1_Frame_Shift_Del_p.G184fs|SEC14L3_ENST00000539629.1_Frame_Shift_Del_p.G184fs	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	243	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	AGTCAGGGTGCCCCCAAACTG	0.507																																					Esophageal Squamous(108;290 1516 3584 23771 37333)	ENST00000403066.1																			0				NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19						c.(550-552)gcfs		SEC14-like 3 (S. cerevisiae)	Vitamin E(DB00163)						95.0	82.0	86.0					22																	30858116		2203	4300	6503	SO:0001589	frameshift_variant	266629					integral to membrane|intracellular	lipid binding|transporter activity	g.chr22:30858116delC	AY158086	CCDS13877.1, CCDS58800.1, CCDS58801.1	22q12.2	2013-09-23			ENSG00000100012	ENSG00000100012			18655	protein-coding gene	gene with protein product		612824					Standard	NM_174975		Approved	TAP2	uc003ahy.3	Q9UDX4	OTTHUMG00000151259	ENST00000215812.4:c.728delG	22.37:g.30858116delC	ENSP00000215812:p.Gly243fs					SEC14L3_ENST00000415957.2_Frame_Shift_Del_p.G184fs|SEC14L3_ENST00000402286.1_Frame_Shift_Del_p.G166fs|SEC14L3_ENST00000401751.1_Frame_Shift_Del_p.G184fs|SEC14L3_ENST00000539629.1_Frame_Shift_Del_p.G184fs|SEC14L3_ENST00000215812.4_Frame_Shift_Del_p.G243fs|SEC14L3_ENST00000540910.1_Frame_Shift_Del_p.G166fs	p.G184fs			Q9UDX4	S14L3_HUMAN			10	834	-			243			CRAL-TRIO.		E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Frame_Shift_Del	DEL	ENST00000215812.4	37	c.551delG	CCDS13877.1																																																																																				0.507	SEC14L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321950.4	NM_174975		7	35						7	35	---	---	---	---
